disease_ontology The Disease Ontology content is available via the Creative Commons Public Domain Dedication CC0 1.0 Universal license (https://creativecommons.org/publicdomain/zero/1.0/). OBO-Edit 2.3.1 elvira 05:05:2017 10:30 1.2 definition DO_AGR_slim DO_FlyBase_slim DO_MGI_slim DO cancer slim DO_rare_slim GOLD NCIt TopNodes_DOcancerslim gram-negative bacterial infectious disease gram-positive bacterial infectious disease sexually transmitted infectious disease tick-borne infectious disease zoonotic infectious disease subset_property has_alternative_id database_cross_reference has_exact_synonym has_narrow_synonym has_obo_format_version has_obo_namespace has_related_synonym in_subset disease_ontology complicated_by complicated_by Component parts of anatomy of tissue made up of certain cells or other body area/system or tissue types. disease_ontology composed_of composed_of Component parts of anatomy of tissue made up of certain cells or other body area/system or tissue types. DO:lh Type of tissue or cell/the source of the material. disease_ontology derives_from derives_from Type of tissue or cell/the source of the material. DO:lh disease_ontology has_material_basis_in has_material_basis_in disease_ontology has_symptom has_symptom disease_ontology inheres_in inheres_in disease_ontology is_a is_a Anatomical location. disease_ontology located_in located_in Anatomical location. DO:lh disease_ontology occurs_with occurs_with disease_ontology part_of part_of disease_ontology realized_by realized_by disease_ontology realized_by_supression_with realized_by_supression_with Development process/cause and effect/disease progress,process. disease_ontology results_in results_in Development process/cause and effect/disease progress,process. DO:lh Formation of structure,cancer,etc./cause and effect. disease_ontology results_in_formation_of results_in_formation_of Formation of structure,cancer,etc./cause and effect. DO:lh Pathogen is transmitted. disease_ontology transmitted_by transmitted_by Pathogen is transmitted. DO:lh A malignant Vascular tumor that results_in rapidly proliferating, extensively infiltrating anaplastic cells derives_from blood vessels and derived_from the lining of irregular blood-filled spaces. DOID:267 DOID:4508 MESH:D006394 NCI:C3088 NCI:C9275 SNOMEDCT_US_2016_03_01:33176006 SNOMEDCT_US_2016_03_01:39000009 SNOMEDCT_US_2016_03_01:403977003 UMLS_CUI:C0018923 UMLS_CUI:C0854893 hemangiosarcoma disease_ontology DOID:0001816 angiosarcoma A malignant Vascular tumor that results_in rapidly proliferating, extensively infiltrating anaplastic cells derives_from blood vessels and derived_from the lining of irregular blood-filled spaces. url:http://emedicine.medscape.com/article/276512-overview url:http://en.wikipedia.org/wiki/Hemangiosarcoma url:http://www.ncbi.nlm.nih.gov/pubmed/23327728 laronhughes 2010-06-30T02:44:30Z ICD10CM:H11.0 ICD10CM:H11.00 ICD10CM:H11.009 ICD9CM:372.4 ICD9CM:372.40 MESH:D011625 SNOMEDCT_US_2016_03_01:155165000 SNOMEDCT_US_2016_03_01:193879003 SNOMEDCT_US_2016_03_01:193884009 SNOMEDCT_US_2016_03_01:77489003 UMLS_CUI:C0033999 surfer's eye disease_ontology DOID:0002116 pterygium A disease that involving errors in metabolic processes of building or degradation of molecules. ICD10CM:E88.9 ICD9CM:277.9 MESH:D008659 NCI:C3235 SNOMEDCT_US_2016_03_01:154733004 SNOMEDCT_US_2016_03_01:190961002 SNOMEDCT_US_2016_03_01:267456000 SNOMEDCT_US_2016_03_01:30390004 SNOMEDCT_US_2016_03_01:75934005 UMLS_CUI:C0025517 metabolic disease disease_ontology DOID:0014667 disease of metabolism A disease that involving errors in metabolic processes of building or degradation of molecules. url:http://www.ncbi.nlm.nih.gov/books/NBK22259/ metabolic disease SNOMEDCT_2005_07_31:75934005 disease_ontology DOID:0050001 Actinomadura madurae infectious disease true disease_ontology DOID:0050002 Actinomadura pelletieri infectious disease true disease_ontology DOID:0050003 Streptomyces somaliensis infectious disease true SNOMEDCT_US_2016_03_01:301990003 UMLS_CUI:C0578661 disease_ontology DOID:0050004 seminal vesicle acute gonorrhea A strongyloidiasis that involves parasitic infection by the filariform larvae of Strongyloides stercoralis, which penetrate the human skin causing urticarial rashes in the buttocks and waist areas. disease_ontology DOID:0050007 cutaneous strongyloidiasis true A strongyloidiasis that involves parasitic infection by the filariform larvae of Strongyloides stercoralis, which penetrate the human skin causing urticarial rashes in the buttocks and waist areas. url:http://www.dpd.cdc.gov/dpdx/HTML/Strongyloidiasis.htm A strongyloidiasis that involves infection of intestine with Strongyloides stercoralis, which results in abdominal pain, diarrhea, ileus, massive gastrointestinal bleeding, severe malabsorption, and peritonitis. disease_ontology DOID:0050009 intestinal strongyloidiasis true A strongyloidiasis that involves infection of intestine with Strongyloides stercoralis, which results in abdominal pain, diarrhea, ileus, massive gastrointestinal bleeding, severe malabsorption, and peritonitis. url:http://www.dpd.cdc.gov/DPDx/HTML/Strongyloidiasis.htm url:http://www.merck.com/mmpe/sec14/ch182/ch182i.html?qt=strongyloidiasis&alt=sh A mansonelliasis that involves parasitic infection by the nematode Mansonella perstans, which resides in body cavities and the surrounding tissues causing angioedema, pruritus, fever, headaches, arthralgias, and neurologic manifestations. Midges transmit the disease. disease_ontology DOID:0050010 Mansonella perstans infectious disease true A mansonelliasis that involves parasitic infection by the nematode Mansonella perstans, which resides in body cavities and the surrounding tissues causing angioedema, pruritus, fever, headaches, arthralgias, and neurologic manifestations. Midges transmit the disease. url:http://www.dpd.cdc.gov/dpdx/HTML/Filariasis.htm A mansonelliasis that involves parasitic infection by the nematode Mansonella streptocerca, which resides in the dermis and subcutaneous tissue causing pruritus, papular eruptions and pigmentation changes. Midges transmit the disease. disease_ontology DOID:0050011 Mansonella streptocerca infectious disease true A mansonelliasis that involves parasitic infection by the nematode Mansonella streptocerca, which resides in the dermis and subcutaneous tissue causing pruritus, papular eruptions and pigmentation changes. Midges transmit the disease. url:http://www.dpd.cdc.gov/dpdx/HTML/Filariasis.htm A viral infectious disease that results_in infection located_in joint, has_material_basis_in Chikungunya virus, which is transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom maculopapular rash. Chikungunya fever disease_ontology DOID:0050012 chikungunya A viral infectious disease that results_in infection located_in joint, has_material_basis_in Chikungunya virus, which is transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom maculopapular rash. url:http://en.wikipedia.org/wiki/Chikungunya_virus An acquired metabolic disease that is characterized by abnormal carbohydrate metabolism. disease_ontology DOID:0050013 carbohydrate metabolism disease An acquired metabolic disease that is characterized by abnormal carbohydrate metabolism. url:http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html A viral infectious disease that results_in infection in deer, has_material_basis_in Epizootic hemorrhagic disease virus, which is transmitted_by Culicoides biting midges. The infection has_symptom hemorrhages in many tissues including the skin, heart, and gastrointestinal tract, and has_symptom ulcers of the tongue, dental pad, palate, rumen, and omasum. disease_ontology EHD DOID:0050014 epizootic hemorrhagic disease true A viral infectious disease that results_in infection in deer, has_material_basis_in Epizootic hemorrhagic disease virus, which is transmitted_by Culicoides biting midges. The infection has_symptom hemorrhages in many tissues including the skin, heart, and gastrointestinal tract, and has_symptom ulcers of the tongue, dental pad, palate, rumen, and omasum. url:http://www.cfsph.iastate.edu/Factsheets/pdfs/epizootic_hemorrhagic_disease.pdf A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Rocio virus, which is transmitted_by Psorophora ferox and transmitted_by Aedes species of mosquitoes. The infection has_symptom abdominal distension, has_symptom confusion, has_symptom motor impairment, has_symptom difficulty in walking and maintaining balance, has_symptom meningeal irritation, and has_symptom cerebellar syndrome. disease_ontology DOID:0050015 Rocio virus encephalitis true A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Rocio virus, which is transmitted_by Psorophora ferox and transmitted_by Aedes species of mosquitoes. The infection has_symptom abdominal distension, has_symptom confusion, has_symptom motor impairment, has_symptom difficulty in walking and maintaining balance, has_symptom meningeal irritation, and has_symptom cerebellar syndrome. url:http://books.google.com/books?id=5O0somr0w18C&pg=RA1-PA1198&lpg=RA1-PA1198&dq#v=onepage&q=&f=false url:http://www.ncbi.nlm.nih.gov/sites/entrez/17622628 url:http://www.scielo.br/pdf/rsp/v20n3/01.pdf disease_ontology DOID:0050024 Ehrlichia ewingii ehrlichiosis true An ehrlichiosis that results_in infection located_in granular leukocyte, has_material_basis_in Anaplasma phagocytophilum, which is transmitted_by lone start tick (Amblyomma americanum ). The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue, has_symptom fever and has_symptom rash. DOID:0050021 DOID:0050022 human granulocytic ehrlichiosis disease_ontology HGE DOID:0050025 human granulocytic anaplasmosis An ehrlichiosis that results_in infection located_in granular leukocyte, has_material_basis_in Anaplasma phagocytophilum, which is transmitted_by lone start tick (Amblyomma americanum ). The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue, has_symptom fever and has_symptom rash. url:http://emedicine.medscape.com/article/235839-overview An ehrlichiosis that results_in infection located_in monocyte or located_in macrophage, has_material_basis_in Ehrlichia chaffeensis, which is transmitted_by black-legged tick (Ixodes scapularis), transmitted_by western black-legged tick (Ixodes pacificus) or transmitted_by castor bean tick (Ixodes ricinus,). The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue, has_symptom fever and has_symptom rash. DOID:14091 disease_ontology Ehrlichiosis chafeensis DOID:0050026 human monocytic ehrlichiosis An ehrlichiosis that results_in infection located_in monocyte or located_in macrophage, has_material_basis_in Ehrlichia chaffeensis, which is transmitted_by black-legged tick (Ixodes scapularis), transmitted_by western black-legged tick (Ixodes pacificus) or transmitted_by castor bean tick (Ixodes ricinus,). The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue, has_symptom fever and has_symptom rash. url:http://emedicine.medscape.com/article/235839-overview An acquired metabolic disease that is characterized by abnormal mineral metabolism. disease_ontology DOID:0050032 mineral metabolism disease An acquired metabolic disease that is characterized by abnormal mineral metabolism. url:http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html A spotted fever that has_material_basis_in Rickettsia africae, which is transmitted_by ticks (Amblyomma hebraeum and Amblyomma variegatum). The infection has_symptom fever, has_symptom eschar and has_symptom maculopapular rash. DOID:0050034 DOID:0050036 Rickettsia africae spotted fever south african tick-bite fever disease_ontology DOID:0050035 African tick-bite fever A spotted fever that has_material_basis_in Rickettsia africae, which is transmitted_by ticks (Amblyomma hebraeum and Amblyomma variegatum). The infection has_symptom fever, has_symptom eschar and has_symptom maculopapular rash. url:http://jcm.asm.org/cgi/reprint/42/2/816 url:http://www.cdc.gov/otherspottedfever/index.html A spotted fever that has_material_basis_in Rickettsia conorii subsp caspia, which is transmitted_by ticks (Rhipicephalus pumilio and Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities. disease_ontology DOID:0050041 Astrakhan spotted fever A spotted fever that has_material_basis_in Rickettsia conorii subsp caspia, which is transmitted_by ticks (Rhipicephalus pumilio and Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities. url:http://books.google.com/books?id=dKlUARLKT9IC&pg=PA306&lpg=PA306&dq#v=onepage&q&f=false url:http://www.cdc.gov/otherspottedfever/index.html A spotted fever that has_material_basis_in Rickettsia conorii subsp indica, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities. disease_ontology DOID:0050042 Indian tick typhus A spotted fever that has_material_basis_in Rickettsia conorii subsp indica, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities. url:http://www.biomedcentral.com/1471-2180/5/11 url:http://www.cdc.gov/otherspottedfever/index.html A spotted fever that has_material_basis_in Rickettsia conorii subsp israelensis, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities. disease_ontology Israeli spotted fever DOID:0050043 Israeli tick typhus A spotted fever that has_material_basis_in Rickettsia conorii subsp israelensis, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities. url:http://www.biomedcentral.com/1471-2180/5/11 url:http://www.cdc.gov/otherspottedfever/index.html A spotted fever that has_material_basis_in Rickettsia heilongjiangensis, which is transmitted_by ticks (Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom maculopapular rash, and has_symptom regional adenopathy. Rickettsia heilongjiangensis spotted fever disease_ontology DOID:0050046 Far Eastern spotted fever A spotted fever that has_material_basis_in Rickettsia heilongjiangensis, which is transmitted_by ticks (Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom maculopapular rash, and has_symptom regional adenopathy. url:http://www.cdc.gov/otherspottedfever/index.html url:www.cdc.gov/eid/content/16/8/pdfs/1306.pdf A spotted fever that has_material_basis_in Rickettsia honei, which is transmitted_by cayenne ticks (Amblyomma cajennense). The infection has_symptom mild spotted fever, has_symptom eschar and has_symptom adenopathy. DOID:0050048 Thai tick typhus disease_ontology FISF DOID:0050047 Flinders Island spotted fever A spotted fever that has_material_basis_in Rickettsia honei, which is transmitted_by cayenne ticks (Amblyomma cajennense). The infection has_symptom mild spotted fever, has_symptom eschar and has_symptom adenopathy. url:http://onlinelibrary.wiley.com/doi/10.1111/j.1749-6632.2003.tb07338.x/pdf url:http://www.cdc.gov/otherspottedfever/index.html A spotted fever that has_material_basis_in Rickettsia japonica, which is transmitted_by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has_symptom fever, has_symptom eschars, has_symptom regional adenopathy, and has_symptom rash on extremities. DOID:0050049 Rickettsia japonica spotted fever oriental spotted fever disease_ontology DOID:0050050 Japanese spotted fever A spotted fever that has_material_basis_in Rickettsia japonica, which is transmitted_by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has_symptom fever, has_symptom eschars, has_symptom regional adenopathy, and has_symptom rash on extremities. url:http://www.cdc.gov/otherspottedfever/index.html url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2627607/pdf/9204291.pdf A spotted fever that has_material_basis_in Rickettsia parkeri, which is transmitted_by Gulf Coast tick (Amblyomma maculatum). The infection has_symptom fever, has_symptom headache, has_symptom eschar, and has_symptom rash. maculatum infection disease_ontology DOID:0050051 Rickettsia parkeri spotted fever A spotted fever that has_material_basis_in Rickettsia parkeri, which is transmitted_by Gulf Coast tick (Amblyomma maculatum). The infection has_symptom fever, has_symptom headache, has_symptom eschar, and has_symptom rash. url:http://cmr.asm.org/cgi/content/full/18/4/719#Rickettsia_parkeri url:http://www.cdc.gov/otherspottedfever/index.html A spotted fever that has_material_basis_in Rickettsia rickettsii, which is transmitted_by ticks (Dermacentor variabilis and Dermacentor andersoni). The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, and has_symptom maculopapular rash progressing into papular or petechial rash. DOID:0050056 DOID:1708 disease_ontology Brazillian spotted Choix Exanthematic typhus of Sao Paulo Fiebre maculosa Fiebre manchada Sao Paulo typhus So Paulo fever Tick typhus Tobia fever DOID:0050052 Rocky Mountain spotted fever A spotted fever that has_material_basis_in Rickettsia rickettsii, which is transmitted_by ticks (Dermacentor variabilis and Dermacentor andersoni). The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, and has_symptom maculopapular rash progressing into papular or petechial rash. url:http://cmr.asm.org/cgi/content/full/18/4/719#Rickettsia_rickettsii_%28Rocky_Mountain_spotted_fever%29 url:http://www.cdc.gov/otherspottedfever/index.html disease_ontology DOID:0050053 Rickettsia honei spotted fever true A gastrointestinal anthrax that results_in infection located_in mucosa of oropharynx, has_material_basis_in Bacillus anthracis, which is transmitted_by ingestion of anthrax-infected meat. The infection has_symptom lesions, has_symptom vomiting of blood, has_symptom severe diarrhea, has_symptom loss of appetite. disease_ontology DOID:0050059 oropharyngeal anthrax A gastrointestinal anthrax that results_in infection located_in mucosa of oropharynx, has_material_basis_in Bacillus anthracis, which is transmitted_by ingestion of anthrax-infected meat. The infection has_symptom lesions, has_symptom vomiting of blood, has_symptom severe diarrhea, has_symptom loss of appetite. url:http://emedicine.medscape.com/article/212127-overview#a0104 A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Erysipelothrix rhusiopathiae, which is transmitted_by contact with infected animals. The infection has_symptom redness of skin, has_symptom tenderness of skin and has_symptom warmth of skin. disease_ontology DOID:0050061 erysipeloid A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Erysipelothrix rhusiopathiae, which is transmitted_by contact with infected animals. The infection has_symptom redness of skin, has_symptom tenderness of skin and has_symptom warmth of skin. url:http://emedicine.medscape.com/article/1054170-overview url:http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001656/ disease_ontology DOID:0050063 abortive plague true disease_ontology DOID:0050065 cutaneous listeriosis true disease_ontology DOID:0050066 Listeria meningoencephalitis true disease_ontology DOID:0050067 Listeria septicaemia true A bubonic plague that results_in a benign form of bubonic plague, has_symptom fever, has_symptom lymphadenitis, has_symptom headache and has_symptom prostration. disease_ontology DOID:0050068 pestis minor A bubonic plague that results_in a benign form of bubonic plague, has_symptom fever, has_symptom lymphadenitis, has_symptom headache and has_symptom prostration. url:www.cfsph.iastate.edu/Factsheets/pdfs/plague.pdf disease_ontology DOID:0050069 Yersinia pestis infectious disease true disease_ontology DOID:0050070 plague meningitis true A primary systemic mycosis that is a fungal infection located_in lungs, or located_in skin, which results_in disseminated granulomatous pulmonary process and cutaneous infection in rodents, small wild mammals and humans, has_material_basis_in Chrysosporium parvum or Emmonsia crescens. disease_ontology DOID:0050072 adiaspiromycosis A primary systemic mycosis that is a fungal infection located_in lungs, or located_in skin, which results_in disseminated granulomatous pulmonary process and cutaneous infection in rodents, small wild mammals and humans, has_material_basis_in Chrysosporium parvum or Emmonsia crescens. url:http://www.chestjournal.org/content/97/5/1171.abstract url:http://www.eblue.org/article/S0190-9622%2804%2901331-3/abstract An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage. disease_ontology DOID:0050073 invasive aspergillosis An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage. url:http://www.accessmedicine.com/resourceTOC.aspx?resourceID=4 url:http://www.merck.com/mmhe/sec17/ch197/ch197b.html?qt=invasive%20pulmonary%20aspergillosis&alt=sh url:http://www.nlm.nih.gov/medlineplus/ency/article/001326.htm An aspergillosis that involves fungal infection of the tonsils by Aspergillus species. disease_ontology DOID:0050074 tonsillar aspergillosis true An aspergillosis that involves fungal infection of the tonsils by Aspergillus species. url:http://www.ncbi.nlm.nih.gov/pubmed/792373 A primary systemic mycosis that results_in fungal infection located_in lungs, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom lung lesions, has_symptom pleural thickening and results_in_formation_of pulmonary nodules. DOID:0050076 DOID:0050077 disease_ontology DOID:0050075 pulmonary blastomycosis true A primary systemic mycosis that results_in fungal infection located_in lungs, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom lung lesions, has_symptom pleural thickening and results_in_formation_of pulmonary nodules. url:http://chestjournal.chestpubs.org/content/121/3/677.full disease_ontology DOID:0050078 cervix tuberculosis true disease_ontology DOID:0050079 niacin deficiency true disease_ontology DOID:0050080 iodine deficiency true A viral infectious disease that results_in infection located_in liver, has_material_basis_in Torque teno virus, which is transmitted_by blood transfusion. DOID:0050081 TT virus liver infection Transfussion-transmitted virus liver infection disease_ontology human circovirus infectious disease DOID:0050082 hepatic Torque teno virus infectious disease true A viral infectious disease that results_in infection located_in liver, has_material_basis_in Torque teno virus, which is transmitted_by blood transfusion. url:https://www.doria.fi/bitstream/handle/10024/36074/humantor.pdf?sequence=1 disease_ontology DOID:0050083 Keshan disease An upper respiratory tract disease involving inflammation of the nasal cavities and trachea caused by feline herpesvirus 1, of the family Herpesviridae in cats and especially young kittens that is characterized by sneezing, conjunctivitis with discharge, and nasal discharges. Feline viral rhinotracheitis feline coryza feline influenza disease_ontology DOID:0050084 Not a human disease. obsolete rhinotracheitis true An upper respiratory tract disease involving inflammation of the nasal cavities and trachea caused by feline herpesvirus 1, of the family Herpesviridae in cats and especially young kittens that is characterized by sneezing, conjunctivitis with discharge, and nasal discharges. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=rhinotracheitis A subcutaneous mycosis that involves fungal infection of the subcutaneous tissue caused by members of the order Entomophthorales. disease_ontology DOID:0050085 entomophthoromycosis true A subcutaneous mycosis that involves fungal infection of the subcutaneous tissue caused by members of the order Entomophthorales. url:http://www.doctorfungus.org/mycoses/human/zygo/zygomycosis.htm An opportunistic mycosis that results_in fungal infection located_in cutaneous tissues or located_in subcutaneous tissues followed by a traumatic implantation of fungal elements through the skin, has_material_basis_in Mucorales molds and has_symptom necrotic lesions which progressively evolve from the epidermis into dermis and even muscle. disease_ontology DOID:0050086 cutaneous mucormycosis true An opportunistic mycosis that results_in fungal infection located_in cutaneous tissues or located_in subcutaneous tissues followed by a traumatic implantation of fungal elements through the skin, has_material_basis_in Mucorales molds and has_symptom necrotic lesions which progressively evolve from the epidermis into dermis and even muscle. url:http://mycology.adelaide.edu.au/Mycoses/Subcutaneous/Zygomycosis/ url:http://www.doctorfungus.org/mycoses/human/zygo/zygomycosis.htm url:http://www.springerlink.com/content/c7286n02m8327567/fulltext.pdf A opportunistic mycosis that results_in fungal infection located_in gastrointestinal tract, has_material_basis_in Mucorales molds in immunocompromised patients, results_in_formation_of intra-abdominal abscess and has_symptom abdominal pain, has_symptom distention, has_symptom nausea, and has_symptom vomiting. disease_ontology DOID:0050088 gastrointestinal mucormycosis true A opportunistic mycosis that results_in fungal infection located_in gastrointestinal tract, has_material_basis_in Mucorales molds in immunocompromised patients, results_in_formation_of intra-abdominal abscess and has_symptom abdominal pain, has_symptom distention, has_symptom nausea, and has_symptom vomiting. url:http://www.ncbi.nlm.nih.gov/pubmed/16020690 An opportunistic mycosis that results_in fungal infection located_in lungs, has_material_basis_in Mucorales molds and has_symptom hemoptysis and has_symptom necrosis. disease_ontology DOID:0050089 pulmonary mucormycosis true An opportunistic mycosis that results_in fungal infection located_in lungs, has_material_basis_in Mucorales molds and has_symptom hemoptysis and has_symptom necrosis. url:http://archinte.ama-assn.org/cgi/reprint/159/12/1301.pdf url:http://www.accessmedicine.com/resourceTOC.aspx?resourceID=4 An opportunistic mycosis that results_in fungal infection located_in nose, located_in sinuses, located_in eyes, and located_in brain of immunocompromised individuals and has_symptom orbital cellulitis, has_symptom proptosis, has_symptom pus discharge from the nose, and has_symptom seizures. disease_ontology DOID:0050090 rhinocerebral mucormycosis true An opportunistic mycosis that results_in fungal infection located_in nose, located_in sinuses, located_in eyes, and located_in brain of immunocompromised individuals and has_symptom orbital cellulitis, has_symptom proptosis, has_symptom pus discharge from the nose, and has_symptom seizures. url:http://www.merck.com/mmhe/sec17/ch197/ch197h.html A primary systemic mycosis that results_in systemic fungal infection through hematogenous spread, has_material_basis_in Paracoccidioides brasiliensis. disease_ontology DOID:0050091 disseminated paracoccidioidomycosis true A primary systemic mycosis that results_in systemic fungal infection through hematogenous spread, has_material_basis_in Paracoccidioides brasiliensis. url:http://www.mycology.adelaide.edu.au/Mycoses/Dimorphic_systemic/Paracoccidioidomycosis/ A primary systemic mycosis that results_in inflammation located_in lungs, has_material_basis_in Paracoccidioides brasiliensis and has_symptom cough, has_symptom fever, has_symptom night sweats, has_symptom malaise, and has_symptom weight loss. disease_ontology DOID:0050092 pulmonary paracoccidioidomycosis true A primary systemic mycosis that results_in inflammation located_in lungs, has_material_basis_in Paracoccidioides brasiliensis and has_symptom cough, has_symptom fever, has_symptom night sweats, has_symptom malaise, and has_symptom weight loss. url:http://www.mycology.adelaide.edu.au/Mycoses/Dimorphic_systemic/Paracoccidioidomycosis/ A primary systemic mycosis that results_in systemic fungal infection through hematogenous spread, has_material_basis_in Sporothrix schenckii, a dimorphic fungus. disease_ontology DOID:0050093 disseminated sporotrichosis true A primary systemic mycosis that results_in systemic fungal infection through hematogenous spread, has_material_basis_in Sporothrix schenckii, a dimorphic fungus. url:http://en.wikipedia.org/wiki/Sporotrichosis A primary systemic mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, and located_in lymphatic vessel through direct inoculation from wood splinters or hay, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which results_in_formation_of erythematous papulonodular lesions at the site of implantation and along the lymphangitic channels which soon become palpable and ulcerate. disease_ontology DOID:0050094 lymphocutaneous sporotrichosis true A primary systemic mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, and located_in lymphatic vessel through direct inoculation from wood splinters or hay, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which results_in_formation_of erythematous papulonodular lesions at the site of implantation and along the lymphangitic channels which soon become palpable and ulcerate. url:http://emedicine.medscape.com/article/228723-overview url:http://www.mycology.adelaide.edu.au/Mycoses/Subcutaneous/Sporotrichosis/ A primary systemic mycosis that results_in fungal infection located_in lung, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which is transmitted_by airborne spores and has_symptom productive cough, has_symptom nodules and cavitations of the lungs, has_symptom fibrosis, and has_symptom swollen hilar lymph nodes. disease_ontology DOID:0050095 pulmonary sporotrichosis true A primary systemic mycosis that results_in fungal infection located_in lung, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which is transmitted_by airborne spores and has_symptom productive cough, has_symptom nodules and cavitations of the lungs, has_symptom fibrosis, and has_symptom swollen hilar lymph nodes. url:http://en.wikipedia.org/wiki/Sporotrichosis A dermatophytosis that results_in fungal infection which effects horny layer of epidermis of the bearded areas located_in face or located_in neck, has_material_basis_in Trichophyton mentagrophytes or has_material_basis_in Trichophyton verrucosum, which also effects hair, and effects nail and has_symptom inflammatory kerion-like plaques, and results_in_formation_of noninflammatory superficial perifollicular pustules. dermatophytosis of beard disease_ontology DOID:0050096 tinea barbae A dermatophytosis that results_in fungal infection which effects horny layer of epidermis of the bearded areas located_in face or located_in neck, has_material_basis_in Trichophyton mentagrophytes or has_material_basis_in Trichophyton verrucosum, which also effects hair, and effects nail and has_symptom inflammatory kerion-like plaques, and results_in_formation_of noninflammatory superficial perifollicular pustules. url:http://emedicine.medscape.com/article/1091252-overview url:http://www.doctorfungus.org/mycoses/human/other/Tinea_barbae.htm A tinea capitis that results_in fungal infection located_in cuticle of hair, has_material_basis_in Microsporum canis, has_material_basis_in Microsporum gypseum, has_material_basis_in Trichophyton equinum, and has_material_basis_in Trichophyton verrucosum, which produce arthroconidia on the exterior of the hair shaft. disease_ontology DOID:0050097 ectothrix infectious disease A tinea capitis that results_in fungal infection located_in cuticle of hair, has_material_basis_in Microsporum canis, has_material_basis_in Microsporum gypseum, has_material_basis_in Trichophyton equinum, and has_material_basis_in Trichophyton verrucosum, which produce arthroconidia on the exterior of the hair shaft. url:http://emedicine.medscape.com/article/1091351-overview url:http://www.doctorfungus.org/mycoses/human/other/Tinea_capitis_favosa.htm An ectothrix infectious disease that results_in non-inflammatory fungal infection located_in scalp and located_in skin, has_material_basis_in Microsporum audouinii. disease_ontology DOID:0050098 Microsporum audouinii tinea capitis true An ectothrix infectious disease that results_in non-inflammatory fungal infection located_in scalp and located_in skin, has_material_basis_in Microsporum audouinii. url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_audouinii.html An ectothrix infectious disease that results_in zoophilic fungal infection located_in hair, located_in skin, and located_in nail, has_material_basis_in Microsporum canis. disease_ontology DOID:0050099 Microsporum canis tinea capitis true An ectothrix infectious disease that results_in zoophilic fungal infection located_in hair, located_in skin, and located_in nail, has_material_basis_in Microsporum canis. url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_canis.html An ectothrix infectious disease that results_in zoophilic fungal infection located_in skin, and located_in hair, has_material_basis_in Microsporum distortum, which causes infections in cats, dogs and other animals. disease_ontology DOID:0050100 Microsporum distortum tinea capitis true An ectothrix infectious disease that results_in zoophilic fungal infection located_in skin, and located_in hair, has_material_basis_in Microsporum distortum, which causes infections in cats, dogs and other animals. url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_distortum.html An ectothrix infectious disease that results_in anthropophilic fungal infection located_in skin and located_in hair, has_material_basis_in Microsporum ferrugineum. disease_ontology DOID:0050101 Microsporum ferrugineum tinea capitis true An ectothrix infectious disease that results_in anthropophilic fungal infection located_in skin and located_in hair, has_material_basis_in Microsporum ferrugineum. url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_ferrugineum.html An ectothrix infectious disease that results_in geophilic fungal infection located_in glabrous skin, located_in scalp and located_in hair, has_material_basis_in Microsporum gypseum, which results_in_formation_of inflammatory lesions. disease_ontology DOID:0050102 Microsporum gypseum tinea capitis true An ectothrix infectious disease that results_in geophilic fungal infection located_in glabrous skin, located_in scalp and located_in hair, has_material_basis_in Microsporum gypseum, which results_in_formation_of inflammatory lesions. url:http://archderm.highwire.org/cgi/reprint/64/3/309.pdf url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_gypseum.html url:http://www.springerlink.com/content/q856g32375864654/fulltext.pdf An ectothrix infectious disease that results_in geophilic and zoophilic fungal infection located_in skin, located_in scalp and located_in hair, has_material_basis_in Microsporum nanum, which results_in_formation_of chronic non-inflammatory lesions in pigs and humans. disease_ontology DOID:0050103 Microsporum nanum tinea capitis true An ectothrix infectious disease that results_in geophilic and zoophilic fungal infection located_in skin, located_in scalp and located_in hair, has_material_basis_in Microsporum nanum, which results_in_formation_of chronic non-inflammatory lesions in pigs and humans. url:http://www.jstor.org/stable/pdfplus/3756652.pdf url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_nanum.html An ectothrix infectious disease that results_in zoophilic inflammatory fungal infection located_in skin, located_in beard, located_in scalp and located_in nail in cattle and humans, has-agent Trichophyton verrucosum. disease_ontology DOID:0050104 Trichophyton verrucosum tinea capitis true An ectothrix infectious disease that results_in zoophilic inflammatory fungal infection located_in skin, located_in beard, located_in scalp and located_in nail in cattle and humans, has-agent Trichophyton verrucosum. url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/verrucosum.html A tinea capitis that results_in fungal infection located_in hair, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which produce arthroconidia within the hair shaft only. disease_ontology DOID:0050105 endothrix infectious disease A tinea capitis that results_in fungal infection located_in hair, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which produce arthroconidia within the hair shaft only. url:http://www.mycology.adelaide.edu.au/Mycoses/Cutaneous/Dermatophytosis/ An endothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton soudanense. disease_ontology DOID:0050106 Trichophyton soudanense tinea capitis true An endothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton soudanense. url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/soudanense.html An endothrix infectious disease that results_in anthropophilic fungal infection located_in skin, located_in nail and located_in scalp, has_material_basis_in Trichophyton tonsurans and results_in_formation_of scaling lesions. disease_ontology DOID:0050107 Trichophyton tonsurans tinea capitis true An endothrix infectious disease that results_in anthropophilic fungal infection located_in skin, located_in nail and located_in scalp, has_material_basis_in Trichophyton tonsurans and results_in_formation_of scaling lesions. url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/tonsurans.html An endothrix infectious disease that results_in anthropophilic fungal infection located_in skin, located_in nail, located_in beard, and located_in scalp, has_material_basis_in Trichophyton violaceum and results_in_formation_of scaling lesions. The hairs become notably fragile and break easily at the level of the scalp. The rest of the infected follicle looks like "black dots". disease_ontology DOID:0050108 Trichophyton violaceum tinea capitis true An endothrix infectious disease that results_in anthropophilic fungal infection located_in skin, located_in nail, located_in beard, and located_in scalp, has_material_basis_in Trichophyton violaceum and results_in_formation_of scaling lesions. The hairs become notably fragile and break easily at the level of the scalp. The rest of the infected follicle looks like "black dots". url:http://www.doctorfungus.org/mycoses/human/other/Tinea_capitis_favosa.htm url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/violaceum.html A tinea favosa that results_in anthropophilic fungal infection located_in scalp, has_material_basis_in Trichophyton schoenleinii. It is a chronic, scarring form of tinea capitis, which results_in_formation_of scutula and has_symptom permanent hair loss. disease_ontology DOID:0050110 Trichophyton schoenleinii tinea capitis true A tinea favosa that results_in anthropophilic fungal infection located_in scalp, has_material_basis_in Trichophyton schoenleinii. It is a chronic, scarring form of tinea capitis, which results_in_formation_of scutula and has_symptom permanent hair loss. url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/schoenlenii.html An ectothrix infectious disease that results_in geophilic fungal infection located_in scalp and located_in hair in humans and animals, has_material_basis_in Microsporum fulvum. disease_ontology DOID:0050111 Microsporum fulvum tinea capitis true An ectothrix infectious disease that results_in geophilic fungal infection located_in scalp and located_in hair in humans and animals, has_material_basis_in Microsporum fulvum. url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_fulvum.html An ectothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton megninii. disease_ontology DOID:0050112 Trichophyton megninii tinea capitis true An ectothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton megninii. url:http://emedicine.medscape.com/article/787217-overview url:http://www.provlab.ab.ca/mycol/tutorials/derm/tmegn.htm An ectothrix infectious disease that results_in zoophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton equinum. disease_ontology DOID:0050113 Trichophyton equinum tinea capitis true An ectothrix infectious disease that results_in zoophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton equinum. url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/equinum.html An endothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton yaoundei, results_in_formation_of lesions. disease_ontology DOID:0050115 Trichophyton yaoundei tinea capitis true An endothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton yaoundei, results_in_formation_of lesions. url:http://en.wikipedia.org/wiki/Trichophyton url:http://www.nature.com/jid/journal/v41/n1/pdf/jid19636a.pdf A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton concentricum, which is characterized by ring-like growth in overlapping circles that may have an autosomal dominant genetic predisposition. disease_ontology DOID:0050116 tinea imbricata A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton concentricum, which is characterized by ring-like growth in overlapping circles that may have an autosomal dominant genetic predisposition. url:http://www.doctorfungus.org/mycoses/human/other/TineaCorporis_Cruris_Pedis.htm#TineaImbricata A disease that is the consequence of the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions. DOID:10115 DOID:11078 DOID:1304 DOID:1321 DOID:2040 DOID:2288 DOID:3099 DOID:4120 DOID:4620 DOID:5256 DOID:945 DOID:95 DOID:9532 DOID:9696 ICD9CM:079.0 UMLS_CUI:C0001485 infectious disease disease_ontology DOID:0050117 disease by infectious agent A disease that is the consequence of the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions. DO:wk url:http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C26726 A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in La Crosse virus, which is transmitted_by treehole mosquito, Ochlerotatus triseriatus. The infection has_symptom seizures, has_symptom headache, has_symptom fever, has_symptom coma, and has_symptom paralysis. DOID:10840 ICD10CM:A83.5 ICD9CM:062.5 MESH:D004670 SNOMEDCT_US_2016_03_01:186588007 SNOMEDCT_US_2016_03_01:266103004 SNOMEDCT_US_2016_03_01:416442006 SNOMEDCT_US_2016_03_01:417075004 SNOMEDCT_US_2016_03_01:418531007 SNOMEDCT_US_2016_03_01:69627004 UMLS_CUI:C0014053 California Encephalitis California virus encephalitis Neuroinvasive California encephalitis virus infection disease_ontology DOID:0050118 La Crosse encephalitis A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in La Crosse virus, which is transmitted_by treehole mosquito, Ochlerotatus triseriatus. The infection has_symptom seizures, has_symptom headache, has_symptom fever, has_symptom coma, and has_symptom paralysis. url:http://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm California Encephalitis MTHICD9_2006:062.5 Neuroinvasive California encephalitis virus infection SNOMEDCT_2005_07_31:417075004 A West Nile virus infectious disease that has_material_basis_in West Nile virus, which can cause meningitis, encephalitis, acute laccid paralysis, Parkingsonian-like conditions or movement disorder. WNND WNNS West nile neuroinvasive disease disease_ontology DOID:0050119 West Nile virus neurological syndrome true A West Nile virus infectious disease that has_material_basis_in West Nile virus, which can cause meningitis, encephalitis, acute laccid paralysis, Parkingsonian-like conditions or movement disorder. URL:http://www.phac-aspc.gc.ca/wnv-vwn/hmncasedef-eng.php A lymphatic system disease that is characterized by an expansion of the monocyte-macrophage population and intense hemophagocytosis. It can occur de novo, but more often occurs in the setting of another disorder, usually an infection or a malignancy. A clinical picture of fever, hepatosplenomegaly, lymphadenopathy and peripheral pancytopenia. The morphologic hallmark of this syndrome is the phagocytosis of hematopoietic elements by morphologically normal macrophages. DOID:6453 ICD10CM:D76.1 MESH:D051359 NCI:C34792 ORDO:540 SNOMEDCT_US_2016_03_01:190958003 SNOMEDCT_US_2016_03_01:234437005 UMLS_CUI:C0024291 HPS Hemophagocytic syndrome haemophagocytic syndrome disease_ontology DOID:0050120 Xref MGI. MESH:C537250 added from NeuroDevNet [WAK]. hemophagocytic lymphohistiocytosis A lymphatic system disease that is characterized by an expansion of the monocyte-macrophage population and intense hemophagocytosis. It can occur de novo, but more often occurs in the setting of another disorder, usually an infection or a malignancy. A clinical picture of fever, hepatosplenomegaly, lymphadenopathy and peripheral pancytopenia. The morphologic hallmark of this syndrome is the phagocytosis of hematopoietic elements by morphologically normal macrophages. url:http://ghr.nlm.nih.gov/condition/familial-hemophagocytic-lymphohistiocytosis url:http://www.mayoclinicproceedings.com/inside.asp?AID=57&UID= url:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31801997000500007&lng=pt&nrm=iso Hemophagocytic syndrome NCI2004_11_17:C35439 disease_ontology DOID:0050123 tuberculous encephalitis true A dengue disease that involves the most severe form of dengue fever, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has_symptom easy bruising, has_symptom blood spots, has_symptom bleeding gums, and has_symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth. OMIM:614371 DSS disease_ontology DOID:0050125 dengue shock syndrome A dengue disease that involves the most severe form of dengue fever, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has_symptom easy bruising, has_symptom blood spots, has_symptom bleeding gums, and has_symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth. url:http://en.wikipedia.org/wiki/Dengue_shock_syndrome url:http://wwwn.cdc.gov/travel/yellowbook/2010/chapter-5/dengue-fever-dengue-hemorrhagic-fever.aspx#1645 A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Tahyna virus, which is transmitted_by Aedes, transmitted_by Culex, and transmitted_by Ochlerotatus mosquitoes. The infection has_symptom headache, has_symptom fever, has_symptom anorexia, and has_symptom seizures. valtice fever disease_ontology Tahyna virus infection DOID:0050126 Tahyna virus encephalitis true A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Tahyna virus, which is transmitted_by Aedes, transmitted_by Culex, and transmitted_by Ochlerotatus mosquitoes. The infection has_symptom headache, has_symptom fever, has_symptom anorexia, and has_symptom seizures. url:http://birdflubook.com/resources/0Kallio-Kokkoxxx.pdf url:http://www.cdc.gov/eid/content/15/2/306.htm url:http://www.springerlink.com/content/u67424r731431362/ A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip. DOID:2052 DOID:9564 ICD10CM:J01 ICD10CM:J01.9 ICD10CM:J01.90 ICD9CM:461 ICD9CM:461.9 SNOMEDCT_US_2016_03_01:155498004 SNOMEDCT_US_2016_03_01:155501004 SNOMEDCT_US_2016_03_01:15805002 SNOMEDCT_US_2016_03_01:195649005 SNOMEDCT_US_2016_03_01:195653007 SNOMEDCT_US_2016_03_01:266378004 UMLS_CUI:C0149512 disease_ontology DOID:0050127 sinusitis A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip. url:http://en.wikipedia.org/wiki/sinusitis url:http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C35024&ns=NCI_Thesaurus&key=1218436475&b=1&n=null Secretory diarrhea is a diarrhea where there is an increase in the active secretion, or there is an inhibition of absorption causing little to no structural damage. The most common cause of this type of diarrhea is a cholera toxin that stimulates the secretion of anions, especially chloride ions. disease_ontology DOID:0050129 secretory diarrhea Secretory diarrhea is a diarrhea where there is an increase in the active secretion, or there is an inhibition of absorption causing little to no structural damage. The most common cause of this type of diarrhea is a cholera toxin that stimulates the secretion of anions, especially chloride ions. url:http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea Osmotic diarrhea is a dirrhea where diarrhea occurs when too much water is drawn into the bowels. This can be the result of maldigestion (e.g., pancreatic disease or Coeliac disease), in which the nutrients are left in the lumen to pull in water. Osmotic diarrhea can also be caused by osmotic laxatives (which work to alleviate constipation by drawing water into the bowels). In healthy individuals, too much magnesium or vitamin C or undigested lactose can produce osmotic diarrhea and distention of the bowel. A person who does not have lactose intolerance can have difficulty absorbing lactose after an extraordinarily high intake of dairy products. disease_ontology DOID:0050130 osmotic diarrhea Osmotic diarrhea is a dirrhea where diarrhea occurs when too much water is drawn into the bowels. This can be the result of maldigestion (e.g., pancreatic disease or Coeliac disease), in which the nutrients are left in the lumen to pull in water. Osmotic diarrhea can also be caused by osmotic laxatives (which work to alleviate constipation by drawing water into the bowels). In healthy individuals, too much magnesium or vitamin C or undigested lactose can produce osmotic diarrhea and distention of the bowel. A person who does not have lactose intolerance can have difficulty absorbing lactose after an extraordinarily high intake of dairy products. url:http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea Motility-related diarrhea is a diarrhea which is caused by the rapid movement of food through the intestines (hypermotility). If the food moves too quickly through the GI tract, there is not enough time for sufficient nutrients and water to be absorbed. disease_ontology DOID:0050131 motility-related diarrhea Motility-related diarrhea is a diarrhea which is caused by the rapid movement of food through the intestines (hypermotility). If the food moves too quickly through the GI tract, there is not enough time for sufficient nutrients and water to be absorbed. url:http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea A gastrointestinal system infectious disease involving diarrhea that occurs when there is damage to the mucosal lining or brush border, which leads to a passive loss of protein-rich fluids, and a decreased ability to absorb these lost fluids. It can be caused by bacterial infections, viral infections, parasitic infections, or autoimmune problems such as inflammatory bowel diseases. It can also be caused by tuberculosis, colon cancer, and enteritis. disease_ontology DOID:0050132 inflammatory diarrhea A gastrointestinal system infectious disease involving diarrhea that occurs when there is damage to the mucosal lining or brush border, which leads to a passive loss of protein-rich fluids, and a decreased ability to absorb these lost fluids. It can be caused by bacterial infections, viral infections, parasitic infections, or autoimmune problems such as inflammatory bowel diseases. It can also be caused by tuberculosis, colon cancer, and enteritis. url:http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea A fungal infectious disease that results_in infection of the outermost layer located_in skin or located_in hair shaft, has_material_basis_in Fungi. No living tissue is invaded and there is no cellular response from the host. DOID:13370 ICD10CM:B36.9 MESH:D010854 SNOMEDCT_US_2016_03_01:154408001 SNOMEDCT_US_2016_03_01:187002008 SNOMEDCT_US_2016_03_01:187476003 SNOMEDCT_US_2016_03_01:266218008 SNOMEDCT_US_2016_03_01:276206000 SNOMEDCT_US_2016_03_01:402135006 SNOMEDCT_US_2016_03_01:47382004 UMLS_CUI:C0031898 UMLS_CUI:C2980104 Steroid-modified tinea infection piedra disease_ontology DOID:0050133 Adding a UMLS CUI for piedra C2980104. superficial mycosis A fungal infectious disease that results_in infection of the outermost layer located_in skin or located_in hair shaft, has_material_basis_in Fungi. No living tissue is invaded and there is no cellular response from the host. url:http://en.wikipedia.org/wiki/Mycoses url:http://www.mycology.adelaide.edu.au/Mycoses/ Steroid-modified tinea infection SNOMEDCT_2005_07_31:238435009 A fungal infectious disease that results_in infection of the keratinized layers located_in skin, located_in hair or located_in nail, which extends deeper into the epidermis, has_material_basis_in Fungi and results_in_formation_of skin lesions. disease_ontology DOID:0050134 cutaneous mycosis A fungal infectious disease that results_in infection of the keratinized layers located_in skin, located_in hair or located_in nail, which extends deeper into the epidermis, has_material_basis_in Fungi and results_in_formation_of skin lesions. url:http://en.wikipedia.org/wiki/Mycoses url:http://jama.ama-assn.org/cgi/reprint/61/6/407 A fungal infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Fungi, which penetrate the dermis or even deeper during or after a skin trauma. disease_ontology DOID:0050135 subcutaneous mycosis A fungal infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Fungi, which penetrate the dermis or even deeper during or after a skin trauma. url:http://www.itg.be/evde/53_Medical_mycologyp3.htm url:http://www.mycology.adelaide.edu.au/Mycoses/ A fungal infectious disease that results_in infection of internal organs and tissues located_in human body, has_material_basis_in Fungi, which enter the body via the respiratory tract, through the gut, paranasal sinuses or skin and spread through the bloodstream to multiple organs. disease_ontology DOID:0050136 systemic mycosis A fungal infectious disease that results_in infection of internal organs and tissues located_in human body, has_material_basis_in Fungi, which enter the body via the respiratory tract, through the gut, paranasal sinuses or skin and spread through the bloodstream to multiple organs. url:http://dermnetnz.org/fungal/systemic-mycoses.html url:http://www.mycology.adelaide.edu.au/Mycoses/ url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4006 disease_ontology DOID:0050138 podoconiosis A opisthorchiasis that involves parasitic infection of the liver, biliary ducts, pancreas and pancreatic ducts by Opisthorchis felineus. The symptoms include fever, general malaise, skin rash, gastrointestinal disturbances, severe anemia and liver damage. disease_ontology DOID:0050139 Opisthorchis felineus infectious disease true A opisthorchiasis that involves parasitic infection of the liver, biliary ducts, pancreas and pancreatic ducts by Opisthorchis felineus. The symptoms include fever, general malaise, skin rash, gastrointestinal disturbances, severe anemia and liver damage. url:http://en.wikipedia.org/wiki/Opisthorchis_felineus A diarrhea that is of rapid onset and course characterized by frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. disease_ontology DOID:0050140 acute diarrhea A diarrhea that is of rapid onset and course characterized by frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. url:http://en.wikipedia.org/wiki/Diarrhea A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) in adults, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted_by ingestion of bacterial spores, which then grow in the intestine and release toxins. disease_ontology DOID:0050141 intestinal botulism A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) in adults, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted_by ingestion of bacterial spores, which then grow in the intestine and release toxins. url:http://jnnp.bmj.com/content/75/suppl_3/iii35.full.pdf+html url:http://www.who.int/mediacentre/factsheets/fs270/en/ A dengue disease that results_in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has no manifestations of symptoms. disease_ontology DOID:0050143 asymptomatic dengue A dengue disease that results_in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has no manifestations of symptoms. url:http://www3.interscience.wiley.com/journal/120121377/abstract?CRETRY=1&SRETRY=0 A primary ciliary dyskinesia that is characterized by sinusitis, bronchiectasis and situs inversus with dextrocardia resulting from dysfunction of the cilia during embryologic development. MESH:D007619 NCI:C84797 ORDO:98861 SNOMEDCT_US_2016_03_01:42402006 SNOMEDCT_US_2016_03_01:86204009 UMLS_CUI:C0022521 Kartagener's syndrome disease_ontology DOID:0050144 Kartagener syndrome A primary ciliary dyskinesia that is characterized by sinusitis, bronchiectasis and situs inversus with dextrocardia resulting from dysfunction of the cilia during embryologic development. url:http://en.wikipedia.org/wiki/Situs_inversus#Kartagener_syndrome url:http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C84797 url:http://rarediseases.info.nih.gov/gard/6815/kartagener-syndrome/resources/1 url:http://www.ncbi.nlm.nih.gov/pubmed/19529061 url:http://www.ncbi.nlm.nih.gov/pubmed/23243352 url:http://www.ncbi.nlm.nih.gov/pubmed/24019633 url:http://www.ncbi.nlm.nih.gov/pubmed/25633235 An upper respiratory tract disease which involves inflammation, pain, and swelling of the adenoid tissue due to the infection by bacteria and viruses. It occurs primarily in children and may be secondary to an allergy, infection of nose or throat and an obstruction of the eustachian tube. The infection has_symptom pain, has_symptom redness, has_symptom swelling, and has_symptom difficulty swallowing. DOID:13750 ICD10CM:J35.02 ICD9CM:474.01 SNOMEDCT_US_2016_03_01:195794009 SNOMEDCT_US_2016_03_01:232420002 UMLS_CUI:C0396023 chronic adenoiditis disease_ontology DOID:0050145 adenoiditis An upper respiratory tract disease which involves inflammation, pain, and swelling of the adenoid tissue due to the infection by bacteria and viruses. It occurs primarily in children and may be secondary to an allergy, infection of nose or throat and an obstruction of the eustachian tube. The infection has_symptom pain, has_symptom redness, has_symptom swelling, and has_symptom difficulty swallowing. url:http://books.google.com/books?id=6_BPQKPlYzcC&pg=PA96&lpg=PA96&dq#v=onepage&q=&f=false url:http://en.wikipedia.org/wiki/Adenoiditis disease_ontology DOID:0050146 autoimmune glomerulonephritis true An otitis externa which is a disease of the ear produced by the growth of fungi in the external auditory canal. It is characterized by inflammation, pruritus, scaling and severe discomfort. The most common fungi are Aspergillus niger and Candida albicans. Singapore ear disease_ontology DOID:0050147 otomycosis An otitis externa which is a disease of the ear produced by the growth of fungi in the external auditory canal. It is characterized by inflammation, pruritus, scaling and severe discomfort. The most common fungi are Aspergillus niger and Candida albicans. url:http://en.wikipedia.org/wiki/Otomycosis url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=otomycosis An upper respiratory tract disease involving inflammation of both larynx and trachea often caused by viral infection. The infection can close off the windpipe. DOID:11795 DOID:9390 ICD10CM:J04 ICD10CM:J04.2 ICD10CM:J37.1 ICD9CM:464 ICD9CM:464.2 ICD9CM:476.1 SNOMEDCT_US_2016_03_01:155505008 SNOMEDCT_US_2016_03_01:155508005 SNOMEDCT_US_2016_03_01:195679003 SNOMEDCT_US_2016_03_01:195694004 SNOMEDCT_US_2016_03_01:195697006 SNOMEDCT_US_2016_03_01:195703007 SNOMEDCT_US_2016_03_01:276443001 SNOMEDCT_US_2016_03_01:64375000 SNOMEDCT_US_2016_03_01:83271005 UMLS_CUI:C0155811 UMLS_CUI:C0155837 disease_ontology DOID:0050148 laryngotracheitis An upper respiratory tract disease involving inflammation of both larynx and trachea often caused by viral infection. The infection can close off the windpipe. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=laryngotracheitis A legionellosis that involves a milder respiratory illness without pneumonia. Symptoms include fever, headache and muscle aches which last for 2 to 5 days. disease_ontology DOID:0050150 Pontiac fever A legionellosis that involves a milder respiratory illness without pneumonia. Symptoms include fever, headache and muscle aches which last for 2 to 5 days. url:http://www.cdc.gov/legionella/patient_facts.htm url:http://www.ncbi.nlm.nih.gov/pubmed/623097 A pulmonary tuberculosis involving inflammation of trachea and bronchi. The symptoms include dry cough followed by dyspnea, localized wheezing, hemoptysis, hoarseness, anorexia, weight loss, chest pain and fever. disease_ontology DOID:0050151 tracheobronchial tuberculosis true A pulmonary tuberculosis involving inflammation of trachea and bronchi. The symptoms include dry cough followed by dyspnea, localized wheezing, hemoptysis, hoarseness, anorexia, weight loss, chest pain and fever. url:http://www.ncbi.nlm.nih.gov/pubmed/9122509 A bacterial pneumonia which is an acute pulmonary inflammatory response that develops after the inhalation of colonized oropharyngeal material containing bacteria. It is seen in individuals with dysphagia and gastric dysmotility. The disease has_symptom tachypnea and has_symptom cough. ICD10CM:J69.0 MESH:D011015 SNOMEDCT_US_2016_03_01:422588002 SNOMEDCT_US_2016_03_01:47839005 UMLS_CUI:C0032290 disease_ontology DOID:0050152 aspiration pneumonia A bacterial pneumonia which is an acute pulmonary inflammatory response that develops after the inhalation of colonized oropharyngeal material containing bacteria. It is seen in individuals with dysphagia and gastric dysmotility. The disease has_symptom tachypnea and has_symptom cough. url:http://scalpel.stanford.edu/articles/aspiration--NEJM.pdf An aspergillosis that presents as a clump of tangled mass of Aspergillus fungus fibres, blood clots, and white blood cells, which exists in the cavities of the lungs that develop in an area of previous lung disease or lung scarring. disease_ontology DOID:0050153 pulmonary aspergilloma An aspergillosis that presents as a clump of tangled mass of Aspergillus fungus fibres, blood clots, and white blood cells, which exists in the cavities of the lungs that develop in an area of previous lung disease or lung scarring. url:http://www.merck.com/mmhe/sec17/ch197/ch197b.html?qt=invasive%20pulmonary%20aspergillosis&alt=sh url:http://www.nlm.nih.gov/medlineplus/ency/article/001326.htm A bacterial pneumonia caused by the genus Mycoplasma. disease_ontology DOID:0050154 mycoplasmal pneumonia true A bacterial pneumonia caused by the genus Mycoplasma. url:http://en.wikipedia.org/wiki/Mycoplasma A nervous system disease which is located in a part of the nervous system responsible for processing sensory information that consists of sensory receptors, neural pathways, and parts of the brain involved in sensory perception. Commonly recognized sensory systems are those for vision, hearing, somatic sensation (touch), taste and olfaction (smell). disease_ontology DOID:0050155 sensory system disease A nervous system disease which is located in a part of the nervous system responsible for processing sensory information that consists of sensory receptors, neural pathways, and parts of the brain involved in sensory perception. Commonly recognized sensory systems are those for vision, hearing, somatic sensation (touch), taste and olfaction (smell). url:http://en.wikipedia.org/wiki/Sensory_system An idiopathic interstitial pneumonia which is a distinctive type of chronic fibrosing interstitial pneumonia with thick scarring in the lung creating a honeycomb appearance. The main symptoms start insidiously as shortness of breath on exertion, cough, and diminished stamina. Other common complaints include weight loss and fatigue. The level of oxygen in the blood decreases, and the skin may take on a bluish tinge (called cyanosis) and the ends of the fingers may become thick or club-shape. In most people, symptoms worsen over a period ranging from about 6 months to several years. EFO:0000768 ICD10CM:J84.112 ICD9CM:516.31 MESH:D054990 NCI:C35715 NCI:C35716 OMIM:178500 SNOMEDCT_US_2016_03_01:196125002 SNOMEDCT_US_2016_03_01:233721005 SNOMEDCT_US_2016_03_01:237121003 SNOMEDCT_US_2016_03_01:28168000 SNOMEDCT_US_2016_03_01:426437004 UMLS_CUI:C1800706 FIBROCYSTIC PULMONARY DYSPLASIA IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL cryptogenic fibrosing alveolitis disease_ontology DOID:0050156 OMIM mapping confirmed by DO. [SN]. idiopathic pulmonary fibrosis An idiopathic interstitial pneumonia which is a distinctive type of chronic fibrosing interstitial pneumonia with thick scarring in the lung creating a honeycomb appearance. The main symptoms start insidiously as shortness of breath on exertion, cough, and diminished stamina. Other common complaints include weight loss and fatigue. The level of oxygen in the blood decreases, and the skin may take on a bluish tinge (called cyanosis) and the ends of the fingers may become thick or club-shape. In most people, symptoms worsen over a period ranging from about 6 months to several years. url:http://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh url:http://www.ncbi.nlm.nih.gov/pubmed/11790668 An idiopathic interstitial pneumonia characterized by lung inflammation and scarring that obstructs the small airways and air sacs of the lungs (alveoli). A flu-like illness, with a cough, fever, a feeling of illness (malaise), fatigue, and weight loss, heralds the onset in about 50% of people. Frequent presence of crackling sounds (called Velcro crackles) when the doctor listens with a stethoscope. DOID:2798 ICD10CM:J84.116 ICD9CM:516.36 MESH:D018549 NCI:C62586 SNOMEDCT_US_2016_03_01:129458007 UMLS_CUI:C0242770 BOOP Cryptogenic organizing pneumonitis bronchiolitis obliterans organizing pneumonia idiopathic bronchiolitis obliterans with organizing pneumonia disease_ontology DOID:0050157 cryptogenic organizing pneumonia An idiopathic interstitial pneumonia characterized by lung inflammation and scarring that obstructs the small airways and air sacs of the lungs (alveoli). A flu-like illness, with a cough, fever, a feeling of illness (malaise), fatigue, and weight loss, heralds the onset in about 50% of people. Frequent presence of crackling sounds (called Velcro crackles) when the doctor listens with a stethoscope. url:http://chestjournal.chestpubs.org/content/102/1_Supplement/2S.long url:http://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh url:http://www.ncbi.nlm.nih.gov/pubmed/11790668 An idiopathic interstitial pneumonia that is characterized by the accumulation of bronchiolocentric alveolar macrophages in alveolar spaces and interstitial inflammation and involves mild bronchiolar fibrosis and chronic inflammation. DOID:2796 ICD10CM:J84.115 ICD10CM:J84.117 ICD9CM:516.34 ICD9CM:516.37 MESH:C562470 NCI:C35288 OMIM:263000 SNOMEDCT_US_2016_03_01:8549006 UMLS_CUI:C0238378 RBILD familial desquamative interstitial pneumonitis respiratory bronchiolitis-associated interstitial lung disease disease_ontology DOID:0050158 OMIM mapping confirmed by DO. [SN]. desquamative interstitial pneumonia An idiopathic interstitial pneumonia that is characterized by the accumulation of bronchiolocentric alveolar macrophages in alveolar spaces and interstitial inflammation and involves mild bronchiolar fibrosis and chronic inflammation. url:http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C35288 url:http://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh url:http://www.ncbi.nlm.nih.gov/pubmed/11790668 url:http://www.ncbi.nlm.nih.gov/pubmed/16142185 url:http://www.ncbi.nlm.nih.gov/pubmed/16456642 url:http://www.ncbi.nlm.nih.gov/pubmed/23001799 An idiopathic interstitial pneumonia which involves diffuse interstitial infiltration of involved areas mostly with T lymphocytes, plasma cells, and macrophages. Lymphoid hyperplasia is frequently seen. Onset is often slow with gradually increasing cough and breathlessness over 3 or more years. Fever, weight loss, chest pain, and arthralgia are occasionally found. Crackles may be detected as the disease progresses. disease_ontology DOID:0050159 lymphoid interstitial pneumonia An idiopathic interstitial pneumonia which involves diffuse interstitial infiltration of involved areas mostly with T lymphocytes, plasma cells, and macrophages. Lymphoid hyperplasia is frequently seen. Onset is often slow with gradually increasing cough and breathlessness over 3 or more years. Fever, weight loss, chest pain, and arthralgia are occasionally found. Crackles may be detected as the disease progresses. url:http://www.ncbi.nlm.nih.gov/pubmed/11790668 An anthrax disease that results_in infection located_in lung lymph nodes brought on by breathing in the spores of the bacteria Bacillus anthracis. The first symptoms of inhalation anthrax are like cold or flu symptoms and can include a sore throat, mild fever and muscle aches. Later symptoms include cough, chest discomfort, shortness of breath, tiredness and muscle aches. pulmonary anthrax respiratory anthrax wool-sorters' disease woolsorters' disease disease_ontology DOID:0050160 inhalation anthrax An anthrax disease that results_in infection located_in lung lymph nodes brought on by breathing in the spores of the bacteria Bacillus anthracis. The first symptoms of inhalation anthrax are like cold or flu symptoms and can include a sore throat, mild fever and muscle aches. Later symptoms include cough, chest discomfort, shortness of breath, tiredness and muscle aches. url:http://chestjournal.chestpubs.org/content/116/5/1369.full url:http://www.bt.cdc.gov/agent/anthrax/needtoknow.asp url:http://www.ncbi.nlm.nih.gov/pubmed/11988441 url:http://www.nlm.nih.gov/medlineplus/ency/article/000641.htm respiratory anthrax MTHICD9_2006:022.1 A respiratory system disease which involves the lower respiratory tract. ICD9CM:478.1 ICD9CM:478.19 SNOMEDCT_US_2016_03_01:195823002 SNOMEDCT_US_2016_03_01:266346007 UMLS_CUI:C0029581 disease_ontology DOID:0050161 lower respiratory tract disease A respiratory system disease which involves the lower respiratory tract. url:http://en.wikipedia.org/wiki/lower_respiratory_tract disease_ontology DOID:0050162 influenza encephalopathy true disease_ontology DOID:0050163 influenza myocarditis true disease_ontology DOID:0050164 influenza myositis true A tuberculosis that involves infection of the mesenteric glands by tuberculosis causing mycobacteria. The symptoms include distended abdomen, persistent intestinal indigestion, diarrhea, flatulence, and abdominal pain. disease_ontology DOID:0050165 tuberculous mesenteric gland true A tuberculosis that involves infection of the mesenteric glands by tuberculosis causing mycobacteria. The symptoms include distended abdomen, persistent intestinal indigestion, diarrhea, flatulence, and abdominal pain. url:http://books.google.com/books?id=130IVak1eCwC&pg=PA694&lpg=PA694&dq#v=onepage&q=&f=false An urogenital tuberculosis that results_in formation of granulomas located_in fallopian tube. ICD10CM:A18.17 ICD9CM:016.6 SNOMEDCT_US_2016_03_01:186242002 SNOMEDCT_US_2016_03_01:186243007 UMLS_CUI:C0152828 disease_ontology DOID:0050166 tuberculous salpingitis An urogenital tuberculosis that results_in formation of granulomas located_in fallopian tube. url:http://books.google.com/books?id=tuKGMxGRKa8C&pg=PA627&lpg=PA627&dq#v=onepage&q&f=false An autoimmune polyendocrine syndrome that is inherited in an autosomal recessive fashion, which is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. OMIM:240300 Autoimmune Polyglandular Syndrome I Whitaker syndrom autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy disease_ontology DOID:0050167 autoimmune polyendocrine syndrome type 1 An autoimmune polyendocrine syndrome that is inherited in an autosomal recessive fashion, which is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. sn:IEDB An autoimmune polyendocrine syndrome that is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. It is more heterogeneous and has not been linked to one gene. Schmidt syndrome disease_ontology DOID:0050168 autoimmune polyendocrine syndrome type 2 An autoimmune polyendocrine syndrome that is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. It is more heterogeneous and has not been linked to one gene. sn:IEDB url:http://en.wikipedia.org/wiki/Autoimmune_polyendocrine_syndrome_type_2 A lupus erythematosus that causes skin lesions on parts of the body that are exposed to sunlight. disease_ontology DOID:0050169 cutaneous lupus erythematosus A lupus erythematosus that causes skin lesions on parts of the body that are exposed to sunlight. sn:IEDB A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Jamestown Canyon virus, which is transmitted_by Culiseta, transmitted_by Aedes, and transmitted_by Anopheles species of mosquitoes. The infection has_symptom headache, has_symptom fever, has_symptom neck stiffness, has_symptom photophobia, has_symptom nausea, has_symptom vomiting, and has_symptom seizures. disease_ontology DOID:0050170 Jamestown Canyon encephalitis true A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Jamestown Canyon virus, which is transmitted_by Culiseta, transmitted_by Aedes, and transmitted_by Anopheles species of mosquitoes. The infection has_symptom headache, has_symptom fever, has_symptom neck stiffness, has_symptom photophobia, has_symptom nausea, has_symptom vomiting, and has_symptom seizures. url:http://www.cdc.gov/ncidod/dvbid/arbor/arboguid.pdf url:http://www.ncbi.nlm.nih.gov/pubmed/10451169 A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Snowshoe hare virus, which is transmitted_by Aedes mosquitoes. The infection has_symptom headache, has_symptom fever, has_symptom anorexia, and has_symptom seizures. disease_ontology DOID:0050171 snowshoe hare encephalitis true A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Snowshoe hare virus, which is transmitted_by Aedes mosquitoes. The infection has_symptom headache, has_symptom fever, has_symptom anorexia, and has_symptom seizures. url:http://www.phac-aspc.gc.ca/publicat/ccdr-rmtc/07vol33/dr3311c-eng.php A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Trivittatus virus, which is transmitted_by Ochlerotatus trivittatus mosquito. The infection has_symptom headache, has_symptom fever, has_symptom disorientation, has_symptom tremors, has_symptom convulsions, has_symptom paralysis, and has_symptom coma. disease_ontology DOID:0050172 trivittatus encephalitis true A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Trivittatus virus, which is transmitted_by Ochlerotatus trivittatus mosquito. The infection has_symptom headache, has_symptom fever, has_symptom disorientation, has_symptom tremors, has_symptom convulsions, has_symptom paralysis, and has_symptom coma. url:http://books.google.com/books?id=GcvRX19C3C8C&pg=PA235&lpg#v=onepage&q=&f=false url:http://www.epi.state.nc.us/epi/gcdc/manual/casedefs/ENCEPHALITIS,ARBOVIRAL_CD.pdf url:http://www.health.state.ny.us/diseases/communicable/arboviral/fact_sheet.htm url:http://www.ncbi.nlm.nih.gov/pubmed/10025535 A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Inkoo virus, which is transmitted_by Ochlerotatus communis mosquito. The infection has_symptom stiff neck, has_symptom lethargy, has_symptom headache, has_symptom fever, and has_symptom seizures. disease_ontology DOID:0050173 inkoo encephalitis true A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Inkoo virus, which is transmitted_by Ochlerotatus communis mosquito. The infection has_symptom stiff neck, has_symptom lethargy, has_symptom headache, has_symptom fever, and has_symptom seizures. url:http://birdflubook.com/resources/0Kallio-Kokkoxxx.pdf url:http://en.wikipedia.org/wiki/California_encephalitis_virus url:http://www.ncbi.nlm.nih.gov/pubmed/10025535 url:http://www.ncbi.nlm.nih.gov/sites/entrez/8760424 A West Nile encephalitis that results_in infection located_in brain, has_material_basis_in Kunjin virus, a subtype of West Nile Virus, which is transmitted_by Culex annulirostris mosquito bite. The infection has_symptom fever, has_symptom rigor, has_symptom headache, has_symptom confusion, and has_symptom lethargy. disease_ontology DOID:0050174 Kunjin encephalitis A West Nile encephalitis that results_in infection located_in brain, has_material_basis_in Kunjin virus, a subtype of West Nile Virus, which is transmitted_by Culex annulirostris mosquito bite. The infection has_symptom fever, has_symptom rigor, has_symptom headache, has_symptom confusion, and has_symptom lethargy. url:http://www.health.gov.au/internet/main/publishing.nsf/Content/health-arbovirus-pdf-fskunjin.htm url:http://www.ncbi.nlm.nih.gov/sites/entrez/2552010 A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Tick-borne encephalitis virus, which is transmitted_by Ixodes ticks. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis. DOID:0050176 DOID:10251 DOID:10252 ICD10CM:A84.1 ICD9CM:063.2 MESH:D004675 SNOMEDCT_US_2016_03_01:16901001 UMLS_CUI:C0014054 Central European encephalitis Far Eastern TBE Russian spring-summer encephalitis Siberian tick-borne encephalitis Taiga encephalitis Western European tick-borne encephalitis west-Siberian encephalitis disease_ontology DOID:0050175 tick-borne encephalitis A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Tick-borne encephalitis virus, which is transmitted_by Ixodes ticks. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis. url:http://www.cdc.gov/ncidod/dvrd/Spb/mnpages/dispages/TBE.htm Taiga encephalitis MTHICD9_2006:063.0 Western European tick-borne encephalitis SNOMEDCT_2005_07_31:16901001 A genetic disease that is the result of one or more abnormal alleles and may be dominant (a single copy of the abnormal allele is sufficient to give rise to the disease), semi-dominant, or recessive (requiring both copies of the gene to have an abnormal allele). disease_ontology DOID:0050177 monogenic disease A genetic disease that is the result of one or more abnormal alleles and may be dominant (a single copy of the abnormal allele is sufficient to give rise to the disease), semi-dominant, or recessive (requiring both copies of the gene to have an abnormal allele). DO:wk,ls A genetic disease that require multiple abnormal alleles to manifest are complex. These diseases are termed multifactorial or polygenic. Expressivity or penetrance of the disease is complex and is associated with multiple genes in combination with lifestyle and environmental factors. Multifactoral genetic diseases include heart disease and diabetes, although a subset of diabetes may be classified as a monogenic disease (due to the presence of a single abnormal allele). disease_ontology DOID:0050178 complex genetic disease true A genetic disease that require multiple abnormal alleles to manifest are complex. These diseases are termed multifactorial or polygenic. Expressivity or penetrance of the disease is complex and is associated with multiple genes in combination with lifestyle and environmental factors. Multifactoral genetic diseases include heart disease and diabetes, although a subset of diabetes may be classified as a monogenic disease (due to the presence of a single abnormal allele). DO:wk A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Powassan virus, which is transmitted_by Ixodes and transmitted_by Dermacentor species of ticks. The infection has_symptom headache, has_symptom fever, has_symptom vomiting, has_symptom stiff neck, has_symptom sleepiness, has_symptom breathing distress, has_symptom tremors, has_symptom confusion, has_symptom seizures, has_symptom paralysis, and has_symptom coma. disease_ontology DOID:0050179 Powassan encephalitis A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Powassan virus, which is transmitted_by Ixodes and transmitted_by Dermacentor species of ticks. The infection has_symptom headache, has_symptom fever, has_symptom vomiting, has_symptom stiff neck, has_symptom sleepiness, has_symptom breathing distress, has_symptom tremors, has_symptom confusion, has_symptom seizures, has_symptom paralysis, and has_symptom coma. url:http://chppm-www.apgea.army.mil/ento/facts/Powassan-JusttheFactsJanuary2004.pdf A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Colorado tick fever virus which is transmitted_by rocky mountain wood tick, Dermacentor andersoni. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom stiff neck, has_symptom chills, has_symptom hallucinations, has_symptom disorientation, and has_symptom memory loss. disease_ontology DOID:0050180 Colorado tick fever encephalitis true A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Colorado tick fever virus which is transmitted_by rocky mountain wood tick, Dermacentor andersoni. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom stiff neck, has_symptom chills, has_symptom hallucinations, has_symptom disorientation, and has_symptom memory loss. url:http://www.ncbi.nlm.nih.gov/pubmed/13894744 url:http://www.ncbi.nlm.nih.gov/sites/entrez/2838146 A Simplexvirus infectious disease that results_in infection located_in brain, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2. The infection has_symptom headache, has_symptom fever, has_symptom personality and behavioral changes, has_symptom seizures, has_symptom partial paralysis, and has_symptom hallucinations. disease_ontology DOID:0050181 Herpes simplex virus encephalitis true A Simplexvirus infectious disease that results_in infection located_in brain, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2. The infection has_symptom headache, has_symptom fever, has_symptom personality and behavioral changes, has_symptom seizures, has_symptom partial paralysis, and has_symptom hallucinations. url:http://www.ninds.nih.gov/disorders/encephalitis_meningitis/detail_encephalitis_meningitis.htm A Varicellovirus infectious disease that results_in infection located_in brain, has_material_basis_in Human herpesvirus 3 and has_symptom lethargy, has_symptom rash, has_symptom confusion, has_symptom hallucinations, has_symptom weakness, has_symptom paralysis, has_symptom numbness, and has_symptom parasthesias. DOID:8698 Herpes zoster encephalitis Postchickenpox encephalitis Varicella Zoster Encephalitis postvaricella encephalitis disease_ontology DOID:0050182 Varicella-zoster virus encephalitis true A Varicellovirus infectious disease that results_in infection located_in brain, has_material_basis_in Human herpesvirus 3 and has_symptom lethargy, has_symptom rash, has_symptom confusion, has_symptom hallucinations, has_symptom weakness, has_symptom paralysis, has_symptom numbness, and has_symptom parasthesias. url:http://journals.lww.com/infectdis/Fulltext/2007/07000/Herpes_Zoster_Encephalitis__2_Case_Reports_and.19.aspx url:http://www.ncbi.nlm.nih.gov/pubmed/6273449 Herpes zoster encephalitis SNOMEDCT_2005_07_31:186521003 SNOMEDCT_2005_07_31:192692005 Postchickenpox encephalitis MTHICD9_2006:052.0 Varicella Zoster Encephalitis MTH:NOCODE An Epstein-Barr virus infectious disease that results_in inflammation, located_in brain, has_material_basis_in Human herpesvirus 4 and has_symptom seizures, has_symptom altered consciousness, and has_symptom cerebellar ataxia. disease_ontology DOID:0050183 Epstein-Barr virus encephalitis true An Epstein-Barr virus infectious disease that results_in inflammation, located_in brain, has_material_basis_in Human herpesvirus 4 and has_symptom seizures, has_symptom altered consciousness, and has_symptom cerebellar ataxia. url:http://www.aafp.org/afp/20000201/letters.html url:http://www.cdc.gov/ncidod/eid/vol9no2/02-0218.htm A Measles virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom headache, has_symptom irritability, has_symptom drowsiness, has_symptom abnormal reflexes, has_symptom involuntary movements, has_symptom hemiplagia, has_symptom ataxia, has_symptom nystagmus, and has_symptom dysphasia. DOID:9127 Post measles encephalitis (disorder) Post-measles encephalitis postmeasles encephalitis disease_ontology DOID:0050184 Measles virus encephalitis true A Measles virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom headache, has_symptom irritability, has_symptom drowsiness, has_symptom abnormal reflexes, has_symptom involuntary movements, has_symptom hemiplagia, has_symptom ataxia, has_symptom nystagmus, and has_symptom dysphasia. url:http://www.nature.com/nrneurol/journal/v5/n3/full/ncpneuro1043.html url:http://www.springerlink.com/content/2020124072032058/ Post measles encephalitis (disorder) SNOMEDCT_2005_07_31:111872008 Post-measles encephalitis SNOMEDCT_2005_07_31:154339003 SNOMEDCT_2005_07_31:186557008 SNOMEDCT_2005_07_31:230178009 A skin disease that is a type of allergic reaction located_in skin, which occurs in response to medications, infections, or illness. disease_ontology DOID:0050185 erythema multiforme A skin disease that is a type of allergic reaction located_in skin, which occurs in response to medications, infections, or illness. url:http://www.nlm.nih.gov/medlineplus/ency/article/000851.htm A Cytomegalovirus infectious disease that results_in inflammation, located_in brain, has_material_basis_in Human herpesvirus 5, has_symptom confusional syndrome, has_symptom seizures, has_symptom coma, has_symptom dysphasia, and has_symptom cranial nerve palsies. disease_ontology DOID:0050186 Cytomegalovirus encephalitis true A Cytomegalovirus infectious disease that results_in inflammation, located_in brain, has_material_basis_in Human herpesvirus 5, has_symptom confusional syndrome, has_symptom seizures, has_symptom coma, has_symptom dysphasia, and has_symptom cranial nerve palsies. url:http://www.ncbi.nlm.nih.gov/pubmed/8815757 A Rubella virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom confusion, has_symptom drowsiness, has_symptom delirium, has_symptom convulsions, has_symptom cranial nerve palsies, and has_symptom coma. DOID:9231 disease_ontology DOID:0050187 Rubella virus encephalitis true A Rubella virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom confusion, has_symptom drowsiness, has_symptom delirium, has_symptom convulsions, has_symptom cranial nerve palsies, and has_symptom coma. url:http://www.ncbi.nlm.nih.gov/sites/entrez/13489263 An Enterovirus infectious disease that involves inflammation located_in brain, has_material_basis_in group A coxsackievirus or has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom reduced level of consciousness, has_symptom confusion, has_symptom irritability, has_symptom seizures, and has_symptom coma. disease_ontology DOID:0050188 coxsackievirus encephalitis true An Enterovirus infectious disease that involves inflammation located_in brain, has_material_basis_in group A coxsackievirus or has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom reduced level of consciousness, has_symptom confusion, has_symptom irritability, has_symptom seizures, and has_symptom coma. url:http://books.google.com/books?id=SRpQyCQuxtUC&pg=PA148&lpg#v=onepage&q=&f=false url:http://www.ncbi.nlm.nih.gov/pubmed/14464001 An Enterovirus infectious disease that results_in inflammation located_in brain, has_material_basis_in polioviruses, which are transmitted_by ingestion of food contaminated with feces. The infection has_symptom tremors, has_symptom nystagmus, has_symptom loss of conjugate eye movements, has_symptom muscle rigidity, has_symptom hemiparesis, and has_symptom coma. disease_ontology DOID:0050189 polioencephalitis true An Enterovirus infectious disease that results_in inflammation located_in brain, has_material_basis_in polioviruses, which are transmitted_by ingestion of food contaminated with feces. The infection has_symptom tremors, has_symptom nystagmus, has_symptom loss of conjugate eye movements, has_symptom muscle rigidity, has_symptom hemiparesis, and has_symptom coma. url:http://www.ncbi.nlm.nih.gov/pubmed/13436875 An adenovirus infectious disease that results_in inflammation located_in brain, has_material_basis_in Human adenovirus 2 or has_material_basis_in Human adenovirus 4. The symptoms include fever, stupor, nuchal rigidity, loss of consciousness and seizures. disease_ontology DOID:0050190 adenovirus encephalitis true An adenovirus infectious disease that results_in inflammation located_in brain, has_material_basis_in Human adenovirus 2 or has_material_basis_in Human adenovirus 4. The symptoms include fever, stupor, nuchal rigidity, loss of consciousness and seizures. url:http://books.google.com/books?id=SRpQyCQuxtUC&pg=PA70&lpg#v=onepage&q=&f=false url:http://cid.oxfordjournals.org/content/31/3/830.full url:http://www.medscape.com/viewarticle/414625 url:http://www.ncbi.nlm.nih.gov/pubmed/15560392 A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Influenza A virus or has_material_basis_in Influenza B virus, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. The infection has_symptom fever, has_symptom reduced consciousness, and has_symptom ocular muscle palsies. disease_ontology DOID:0050191 influenza virus encephalitis true A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Influenza A virus or has_material_basis_in Influenza B virus, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. The infection has_symptom fever, has_symptom reduced consciousness, and has_symptom ocular muscle palsies. url:http://www.ncbi.nlm.nih.gov/sites/entrez/2053792 A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Nipah virus, which is transmitted_by direct contact with sick person or animals, or their contaminated tissues. The infection has_symptom dizziness, has_symptom drowsiness, has_symptom altered consciousness, has_symptom disorientation, and has_symptom coma. disease_ontology DOID:0050192 Nipah virus encephalitis true A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Nipah virus, which is transmitted_by direct contact with sick person or animals, or their contaminated tissues. The infection has_symptom dizziness, has_symptom drowsiness, has_symptom altered consciousness, has_symptom disorientation, and has_symptom coma. url:http://www.ncbi.nlm.nih.gov/pubmed/19141846 url:http://www.searo.who.int/LinkFiles/CDS_Nipah_Virus.pdf url:http://www.who.int/mediacentre/factsheets/fs262/en/ A lymphocytic choriomeningitis that results_in inflammation located_in brain, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis. disease_ontology DOID:0050193 Lymphocytic choriomeningitis virus encephalitis true A lymphocytic choriomeningitis that results_in inflammation located_in brain, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis. url:http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/lcmv/qa.htm A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Junin virus, which is transmitted_by rodent, Calomys musculinus. The infection has_symptom fever, has_symptom fatigue, has_symptom malaise, has_symptom leukopenia, has_symptom thrombocytopenia, and has_symptom hemorrhagic manifestations. disease_ontology DOID:0050194 Argentine hemorrhagic fever A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Junin virus, which is transmitted_by rodent, Calomys musculinus. The infection has_symptom fever, has_symptom fatigue, has_symptom malaise, has_symptom leukopenia, has_symptom thrombocytopenia, and has_symptom hemorrhagic manifestations. url:http://en.wikipedia.org/wiki/Argentine_hemorrhagic_fever url:http://www.jstor.org/stable/30129873?seq=1 A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Machupo virus, which is transmitted_by vesper mouse, Calomys callosus. The infection has_symptom fever, has_symptom headache, has_symptom fatigue, has_symptom myalgia, has_symptom arthralgia, has_symptom bleeding from the oral and nasal mucosa, and has_symptom bleeding from the bronchopulmonary, gastrointestinal and genitourinary tracts. disease_ontology DOID:0050195 Bolivian hemorrhagic fever A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Machupo virus, which is transmitted_by vesper mouse, Calomys callosus. The infection has_symptom fever, has_symptom headache, has_symptom fatigue, has_symptom myalgia, has_symptom arthralgia, has_symptom bleeding from the oral and nasal mucosa, and has_symptom bleeding from the bronchopulmonary, gastrointestinal and genitourinary tracts. url:http://www.cdc.gov/ncidod/eid/vol1no3/kilgore.htm A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Guanarito virus, which is transmitted_by cotton rat, Sigmodon alstoni and transmitted_by cane mouse, Zygodontomys brevicauda. The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom sore throat, has_symptom weakness, has_symptom anorexia, has_symptom nausea, has_symptom vomiting, has_symptom convulsions, has_symptom epistaxis, has_symptom bleeding gums, has_symptom hematemesis, has_symptom melena, and has_symptom menorrhagia. disease_ontology DOID:0050196 Venezuelan hemorrhagic fever A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Guanarito virus, which is transmitted_by cotton rat, Sigmodon alstoni and transmitted_by cane mouse, Zygodontomys brevicauda. The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom sore throat, has_symptom weakness, has_symptom anorexia, has_symptom nausea, has_symptom vomiting, has_symptom convulsions, has_symptom epistaxis, has_symptom bleeding gums, has_symptom hematemesis, has_symptom melena, and has_symptom menorrhagia. url:http://www.paho.org/English/SHA/epibul_95-98/be953vhf.htm A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Sabia virus, which is transmitted_by rodents. The infection has_symptom fever, has_symptom eye redness, has_symptom fatigue, has_symptom dizziness, has_symptom muscle aches, has_symptom loss of strength, and has_symptom bleeding under the skin, internal organs, or from body orifices like the mouth, eyes or ears. disease_ontology DOID:0050197 Brazilian hemorrhagic fever A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Sabia virus, which is transmitted_by rodents. The infection has_symptom fever, has_symptom eye redness, has_symptom fatigue, has_symptom dizziness, has_symptom muscle aches, has_symptom loss of strength, and has_symptom bleeding under the skin, internal organs, or from body orifices like the mouth, eyes or ears. url:http://en.wikipedia.org/wiki/Brazilian_hemorrhagic_fever url:http://www.ncbi.nlm.nih.gov/pubmed/7905555 url:http://www.ncbi.nlm.nih.gov/sites/entrez/18421377 A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Chapare virus. The infection has_symptom headache, has_symptom joint pain, has_symptom muscle pain, has_symptom vomiting, has_symptom shock, and has_symptom bleeding. disease_ontology DOID:0050198 Chapare hemorrhagic fever A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Chapare virus. The infection has_symptom headache, has_symptom joint pain, has_symptom muscle pain, has_symptom vomiting, has_symptom shock, and has_symptom bleeding. url:http://www.ncbi.nlm.nih.gov/sites/entrez/18421377 A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Whitewater Arroyo virus, which is transmitted_by white-throated woodrats (Neotoma albigula). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, and has_symptom hemorrhagic manifestations. disease_ontology DOID:0050199 Whitewater Arroyo hemorrhagic fever A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Whitewater Arroyo virus, which is transmitted_by white-throated woodrats (Neotoma albigula). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, and has_symptom hemorrhagic manifestations. url:http://jama.ama-assn.org/cgi/content/full/284/10/1237 url:http://www.ncbi.nlm.nih.gov/sites/entrez/1799746 A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Hantaan virus, which is transmitted_by the eurasian field mouse, Apodemus agrarius, or has_material_basis_in Seoul virus, which is transmitted_by norwegian rat, Rattus norvegicus. The infection has_symptom headache, has_symptom back pain, has_symptom abdominal pain, has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom blurred vision, has_symptom flushing of the face, has_symptom redness of the eyes, has_symptom rash, has_symptom low blood pressure, has_symptom acute shock, has_symptom vascular leakage, and has_symptom acute kidney failure, which can cause severe fluid overload. disease_ontology DOID:0050200 Korean hemorrhagic fever A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Hantaan virus, which is transmitted_by the eurasian field mouse, Apodemus agrarius, or has_material_basis_in Seoul virus, which is transmitted_by norwegian rat, Rattus norvegicus. The infection has_symptom headache, has_symptom back pain, has_symptom abdominal pain, has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom blurred vision, has_symptom flushing of the face, has_symptom redness of the eyes, has_symptom rash, has_symptom low blood pressure, has_symptom acute shock, has_symptom vascular leakage, and has_symptom acute kidney failure, which can cause severe fluid overload. url:http://books.google.com/books?id=VS5bqBQ9RWoC&pg=PR65&lpg=PR65&dq#v=onepage&q&f=false url:http://www.cdc.gov/mmwr/preview/mmwrhtml/00051521.htm url:http://www.ncbi.nlm.nih.gov/pubmed/1349231 A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Puumala virus, which is transmitted_by bank vole, Myodes glareolus [NCBITaxon:447135]. The infection has_symptom headache, has_symptom nausea, has_symptom back pain, has_symptom vomiting, has_symptom myalgia, has_symptom abdominal pain, has_symptom internal hemorrhage, and has_symptom renal failure. disease_ontology DOID:0050201 nephropathia epidemica A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Puumala virus, which is transmitted_by bank vole, Myodes glareolus [NCBITaxon:447135]. The infection has_symptom headache, has_symptom nausea, has_symptom back pain, has_symptom vomiting, has_symptom myalgia, has_symptom abdominal pain, has_symptom internal hemorrhage, and has_symptom renal failure. url:http://www.ncbi.nlm.nih.gov/pubmed/1349231 url:http://www.ncbi.nlm.nih.gov/pubmed/2574903 url:http://www.ncbi.nlm.nih.gov/pubmed/2902106 A viral infectious disease that results_in infection, has_material_basis_in Lujo virus, which has_symptom bleeding. disease_ontology DOID:0050202 lujo hemorrhagic fever A viral infectious disease that results_in infection, has_material_basis_in Lujo virus, which has_symptom bleeding. url:http://www.ncbi.nlm.nih.gov/sites/entrez/19478873 A Cytomegalovirus infectious disease that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 5, has_symptom nausea, has_symptom vomiting, has_symptom headache, has_symptom abdominal pain, has_symptom dark urine, and has_symptom jaundice. Clinical feature includes atypical lymphocytes in the blood. disease_ontology DOID:0050203 Cytomegalovirus hepatitis true A Cytomegalovirus infectious disease that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 5, has_symptom nausea, has_symptom vomiting, has_symptom headache, has_symptom abdominal pain, has_symptom dark urine, and has_symptom jaundice. Clinical feature includes atypical lymphocytes in the blood. url:http://en.wikipedia.org/wiki/Cytomegalovirus url:http://www.ncbi.nlm.nih.gov/pubmed/4300216 url:http://www.ncbi.nlm.nih.gov/sites/entrez/11380800 A viral hepatitis that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 4 and has_symptom headache, has_symptom fatigue, has_symptom fever, has_symptom abdominal pain, has_symptom nausea, and has_symptom jaundice. disease_ontology DOID:0050204 Epstein-Barr virus hepatitis A viral hepatitis that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 4 and has_symptom headache, has_symptom fatigue, has_symptom fever, has_symptom abdominal pain, has_symptom nausea, and has_symptom jaundice. url:http://www.ncbi.nlm.nih.gov/pubmed/16711324 url:http://www.ncbi.nlm.nih.gov/pubmed/17602362 A Simplexvirus infectious disease that results_in inflammation located_in liver, has-agent Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom fever, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, and has_symptom herpetic lesions. disease_ontology DOID:0050205 Herpes simplex virus hepatitis true A Simplexvirus infectious disease that results_in inflammation located_in liver, has-agent Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom fever, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, and has_symptom herpetic lesions. url:http://jcp.bmj.com/content/46/10/968.full.pdf url:http://www.jstor.org/stable/20396832 url:http://www.ncbi.nlm.nih.gov/pubmed/16597901 url:http://www.ncbi.nlm.nih.gov/pubmed/7006542 An adenovirus infectious disease that involves inflammation of the liver caused by Human adenovirus 1, has_material_basis_in Human adenovirus 2, or has_material_basis_in Human adenovirus 5. The symptoms include fever, coagulopathy and gastrointestinal bleeding. Histopathological examination reveals widespread hepatic necrosis with hemorrhage. disease_ontology DOID:0050206 adenovirus hepatitis true An adenovirus infectious disease that involves inflammation of the liver caused by Human adenovirus 1, has_material_basis_in Human adenovirus 2, or has_material_basis_in Human adenovirus 5. The symptoms include fever, coagulopathy and gastrointestinal bleeding. Histopathological examination reveals widespread hepatic necrosis with hemorrhage. url:http://books.google.com/books?id=739MM_WTJREC&pg=PA273&lpg#v=onepage&q=&f=false url:http://onlinelibrary.wiley.com/doi/10.1111/j.1399-3046.2010.01443.x/abstract A Rubella virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection results in hepatic necrosis. disease_ontology DOID:0050207 Rubella virus hepatitis true A Rubella virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection results in hepatic necrosis. url:http://books.google.com/books?id=739MM_WTJREC&pg=PA274&lpg#v=onepage&q=&f=false url:http://www.ncbi.nlm.nih.gov/pubmed/7550869 A Yellow fever virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Yellow fever virus. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, has_symptom weakness, has_symptom nausea, has_symptom vomiting, has_symptom jaundice, and has_symptom hemorrhagic manifestations. disease_ontology DOID:0050208 yellow fever hepatitis true A Yellow fever virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Yellow fever virus. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, has_symptom weakness, has_symptom nausea, has_symptom vomiting, has_symptom jaundice, and has_symptom hemorrhagic manifestations. url:http://books.google.com/books?id=739MM_WTJREC&pg=PA274&lpg#v=onepage&q=rubulavirus&f=false A Measles virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection causes hepatic dysfunction and has_symptom jaundice. disease_ontology DOID:0050209 Measles virus hepatitis true A Measles virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection causes hepatic dysfunction and has_symptom jaundice. url:http://books.google.com/books?id=739MM_WTJREC&pg=PA275&lpg#v=onepage&q=rubulavirus&f=false url:http://www.ncbi.nlm.nih.gov/pubmed/17068034 url:http://www.ncbi.nlm.nih.gov/pubmed/3417236 A Varicellovirus infectious disease that results_in inflammation located_in liver, has_material_basis_in Human herpesvirus 3, has_symptom skin rash, has_symptom oral lesions, has_symptom severe abdominal and back pain, has_symptom fever, has_symptom chills, has_symptom malaise, and has_symptom fatigue. disease_ontology DOID:0050210 Varicella-zoster virus hepatitis true A Varicellovirus infectious disease that results_in inflammation located_in liver, has_material_basis_in Human herpesvirus 3, has_symptom skin rash, has_symptom oral lesions, has_symptom severe abdominal and back pain, has_symptom fever, has_symptom chills, has_symptom malaise, and has_symptom fatigue. url:http://www.ncbi.nlm.nih.gov/sites/entrez/16944014 url:http://www.ncbi.nlm.nih.gov/sites/entrez/8092915 An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus, or has_material_basis_in Influenza A virus subtypes (H1N1, H1N2, H3N1, H3N2, and H2N3), which are transmitted_by direct contact with infected pigs. The infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea. disease_ontology DOID:0050211 swine influenza An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus, or has_material_basis_in Influenza A virus subtypes (H1N1, H1N2, H3N1, H3N2, and H2N3), which are transmitted_by direct contact with infected pigs. The infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea. url:http://www.cdc.gov/flu/swineflu/key_facts.htm url:http://www.ncbi.nlm.nih.gov/pubmed/9140195 A primary Campylobacter infectious disease that involves inflammation of the stomach and intestines caused by Campylobacter jejuni infection, which is characterized by diarrhea (may be bloody), abdominal pain, fever and vomiting. Campylobacter Gastroenteritis disease_ontology DOID:0050212 Campylobacter jejuni gastroenteritis true A primary Campylobacter infectious disease that involves inflammation of the stomach and intestines caused by Campylobacter jejuni infection, which is characterized by diarrhea (may be bloody), abdominal pain, fever and vomiting. url:http://www.ncbi.nlm.nih.gov/pubmed/17846438 Campylobacter Gastroenteritis NCI2004_11_17:C35162 A Vibrio infectious disease that involves inflammation of the stomach and intestines caused by noncholera Vibrio species like Vibrio parahaemolyticus, Vibrio fluvialis and Vibrio vulnificus. Some species produce enterotoxins, which impair intestinal absorption, resulting in watery diarrhea. The symptoms include abdominal cramps, fever, vomiting, nausea and diarrhea. disease_ontology DOID:0050213 Vibrio gastroenteritis true A Vibrio infectious disease that involves inflammation of the stomach and intestines caused by noncholera Vibrio species like Vibrio parahaemolyticus, Vibrio fluvialis and Vibrio vulnificus. Some species produce enterotoxins, which impair intestinal absorption, resulting in watery diarrhea. The symptoms include abdominal cramps, fever, vomiting, nausea and diarrhea. url:http://www.fda.gov/Food/FoodSafety/FoodborneIllness/FoodborneIllnessFoodbornePathogensNaturalToxins/BadBugBook/ucm070419.htm url:http://www.jstor.org/stable/pdfplus/30113106.pdf url:http://www.merck.com/mmpe/sec02/ch016/ch016a.html A neuromuscular junction disease that is characterized by an abnormality of acetylcholine (ACh) release at the neuromuscular junction which results from an autoimmune attack against voltage-gated calcium channels (VGCC) on the presynaptic motor nerve terminal. ICD10CM:G70.80 ICD9CM:358.3 MESH:D015624 NCI:C3155 SNOMEDCT_US_2016_03_01:230688006 SNOMEDCT_US_2016_03_01:56989000 UMLS_CUI:C0022972 Eaton-Lambert syndrome LEMS Lambert-Eaton syndrome disease_ontology DOID:0050214 Lambert-Eaton myasthenic syndrome A neuromuscular junction disease that is characterized by an abnormality of acetylcholine (ACh) release at the neuromuscular junction which results from an autoimmune attack against voltage-gated calcium channels (VGCC) on the presynaptic motor nerve terminal. url:http://emedicine.medscape.com/article/1170810-overview url:http://en.wikipedia.org/wiki/Lambert%E2%80%93Eaton_myasthenic_syndrome Eaton-Lambert syndrome MESH:D015624 Lambert-Eaton syndrome MESH:D015624 A staphylococcal infectious disease that is caused by ingestion of food containing enterotoxins, which are produced by staphylococcal species. The symptoms include abdominal cramps, diarrhea, headache and fever. Staphylococcus Aureus Gastroenteritis disease_ontology DOID:0050215 Staphylococcus gastroenteritis true A staphylococcal infectious disease that is caused by ingestion of food containing enterotoxins, which are produced by staphylococcal species. The symptoms include abdominal cramps, diarrhea, headache and fever. url:http://www.merck.com/mmhe/sec09/ch122/ch122c.html url:http://www.springerlink.com/content/pg45520138llh128/ Staphylococcus Aureus Gastroenteritis NCI2004_11_17:C35036 A primary Bacillaceae infectious disease that is caused by ingestion of food contaminated with Bacillus cereus, which produces enterotoxins in the intestine. The symptoms include vomiting, abdominal cramps, fever and diarrhea. disease_ontology DOID:0050216 Bacillus cereus gastroenteritis true A primary Bacillaceae infectious disease that is caused by ingestion of food contaminated with Bacillus cereus, which produces enterotoxins in the intestine. The symptoms include vomiting, abdominal cramps, fever and diarrhea. url:http://www.jstor.org/stable/pdfplus/30112755.pdf url:http://www.ncbi.nlm.nih.gov/pubmed/8501338 A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Sapovirus, which is transmitted_by ingestion of contaminated food. The infection has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, and has_symptom diarrhea. disease_ontology DOID:0050217 Sapovirus gastroenteritis true A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Sapovirus, which is transmitted_by ingestion of contaminated food. The infection has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, and has_symptom diarrhea. url:http://www.cdc.gov/ncidod/dvrd/revb/gastro/norovirus-factsheet.htm url:http://www0.nih.go.jp/JJID/61/438.pdf An echinococcosis that is caused by the larvae of Echinococcus vogeli or Echinococcus oligarthrus, which infect the liver. human polycystic hydatid disease neotropical echinococcosis disease_ontology DOID:0050218 polycystic echinococcosis An echinococcosis that is caused by the larvae of Echinococcus vogeli or Echinococcus oligarthrus, which infect the liver. url:http://en.wikipedia.org/wiki/Echinococcosis url:http://www.dpd.cdc.gov/dpdx/HTML/Echinococcosis.htm A (+)ssRNA virus infectious disease that results_in infection in animals and humans, located_in liver, has_material_basis_in Hepeviridae viruses. disease_ontology DOID:0050219 Hepeviridae infectious disease true A (+)ssRNA virus infectious disease that results_in infection in animals and humans, located_in liver, has_material_basis_in Hepeviridae viruses. url:http://en.wikipedia.org/wiki/Hepeviridae url:http://www.expasy.org/viralzone/all_by_species/41.html A Q fever that is a zoonotic infectious disease caused by Coxiella burnetii, a bacterium which affects both humans and animals. The symptoms include fever, headache, cough, pleuritic chest pain, myalgia and arthralgia. Infection of humans usually occurs by inhalation of these organisms from air that contains airborne barnyard dust contaminated by dried placental material, birth fluids, or excreta of infected herd animals, ingestion of contaminated milk, tick bites and human to human transmission. Q fever pneumonia disease_ontology DOID:0050220 Coxiella burnetii pneumonia true A Q fever that is a zoonotic infectious disease caused by Coxiella burnetii, a bacterium which affects both humans and animals. The symptoms include fever, headache, cough, pleuritic chest pain, myalgia and arthralgia. Infection of humans usually occurs by inhalation of these organisms from air that contains airborne barnyard dust contaminated by dried placental material, birth fluids, or excreta of infected herd animals, ingestion of contaminated milk, tick bites and human to human transmission. url:http://en.wikipedia.org/wiki/Q_fever url:http://www.ncbi.nlm.nih.gov/pubmed/15021054 A Q fever that involves inflammation of the liver caused by Coxiella burnetti, which results in the formation of granulomas. The symptoms include fever, malaise, hepatomegaly with right upper abdominal pain, and jaundice. Q fever hepatitis disease_ontology DOID:0050221 Coxiella burnetii hepatitis true A Q fever that involves inflammation of the liver caused by Coxiella burnetti, which results in the formation of granulomas. The symptoms include fever, malaise, hepatomegaly with right upper abdominal pain, and jaundice. url:http://www.merck.com/mmpe/sec14/ch177/ch177i.html A selective immunoglobulin deficiency disease thatis a dysgammaglobulinemia resulting from decreased levels of immunoglobulin M (IgM) production to roduction of other antibodies. disease_ontology DOID:0050222 selective IgM deficiency disease A selective immunoglobulin deficiency disease thatis a dysgammaglobulinemia resulting from decreased levels of immunoglobulin M (IgM) production to roduction of other antibodies. url:http://en.wikipedia.org/wiki/IgM url:http://en.wikipedia.org/wiki/Isolated_primary_immunoglobulin_M_deficiency A candidiasis that involves inflammation of the gastric mucosa caused by Candida albicans infection. The symptoms include dyspepsia, gastric ulcers, gastric perforations, nausea and vomiting. disease_ontology DOID:0050223 candidal gastritis true A candidiasis that involves inflammation of the gastric mucosa caused by Candida albicans infection. The symptoms include dyspepsia, gastric ulcers, gastric perforations, nausea and vomiting. url:http://books.google.com/books?id=I-qKxu5oE2EC&pg=PA166&lpg=PA166&dq#v=onepage&q=&f=false url:http://emedicine.medscape.com/article/213853-overview url:http://www.merck.com/mmpe/sec02/ch013/ch013c.html A primary Helicobacter infectious disease that involves inflammation of the stomach lining caused by Candidatus Helicobacter heilmannii, which is associated with peptic ulceration. disease_ontology DOID:0050224 Helicobacter heilmannii infectious disease true A primary Helicobacter infectious disease that involves inflammation of the stomach lining caused by Candidatus Helicobacter heilmannii, which is associated with peptic ulceration. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1731280/pdf/v054p00774.pdf url:http://www.ncbi.nlm.nih.gov/pubmed/10349993 An American histoplasmosis that results_in inflammation, located_in stomach lining in immunocompromised patients, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of gastric mass with ulceration, and results_in_formation_of hypertrophic gastric folds. disease_ontology DOID:0050225 Histoplasma capsulatum gastritis true An American histoplasmosis that results_in inflammation, located_in stomach lining in immunocompromised patients, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of gastric mass with ulceration, and results_in_formation_of hypertrophic gastric folds. url:http://www.merck.com/mmpe/sec02/ch013/ch013c.html url:http://www.ncbi.nlm.nih.gov/sites/entrez/16377536 An opportunistic bacterial infectious disease that involves infection of the intestine caused by Morganella morganii. disease_ontology DOID:0050226 Morganella morganii intestinal infectious disease true An opportunistic bacterial infectious disease that involves infection of the intestine caused by Morganella morganii. url:http://www.ncbi.nlm.nih.gov/sites/entrez/17180585 A cholera that involves infection of the intestine caused by Vibrio cholerae O139 strain. disease_ontology DOID:0050227 Vibrio cholerae O139 cholera true A cholera that involves infection of the intestine caused by Vibrio cholerae O139 strain. url:http://www.cdc.gov/nczved/divisions/dfbmd/diseases/cholera/technical.html#agent An amebiasis that involves infection of the intestine with Entamoeba histolytica trophozoites, which adhere to and kill colonic epithelial cells causing diarrhea with blood and mucus. The symptoms inlcude abdominal pain and fever. Entamoeba histolytica dysentery amebic dysentery amoebic dysentery disease_ontology DOID:0050228 amebic dysentery true An amebiasis that involves infection of the intestine with Entamoeba histolytica trophozoites, which adhere to and kill colonic epithelial cells causing diarrhea with blood and mucus. The symptoms inlcude abdominal pain and fever. url:http://www.merck.com/mmpe/sec14/ch185/ch185b.html An enteroinvasive Escherichia coli infectious disease that involves infection of the intestine caused by enteroinvasive Escherichia coli. The symptoms include fever, bloody diarrhea, and dehydration. disease_ontology DOID:0050229 Escherichia coli dysentery true An enteroinvasive Escherichia coli infectious disease that involves infection of the intestine caused by enteroinvasive Escherichia coli. The symptoms include fever, bloody diarrhea, and dehydration. url:http://emedicine.medscape.com/article/217485-overview url:http://www.jstor.org/stable/pdfplus/30112505.pdf A capillariasis that involves infection of the intestine with Capillaria causing abdominal pain, weight loss, stomach growling, depressed levels of potassium and albumin in the blood, and diarrhea. disease_ontology DOID:0050230 intestinal capillariasis true A capillariasis that involves infection of the intestine with Capillaria causing abdominal pain, weight loss, stomach growling, depressed levels of potassium and albumin in the blood, and diarrhea. url:http://en.wikipedia.org/wiki/Intestinal_capillariasis url:http://www.dpd.cdc.gov/DPDx/HTML/Capillariasis.htm A capillariasis that involves infection of the liver with Capillaria, which manifests as an acute or subacute hepatitis with eosinophilia. The symptoms include abdominal pain, fever, chills, hepatitis, ascites, hepatolithiasis, and hepatomegaly. disease_ontology DOID:0050231 hepatic capillariasis true A capillariasis that involves infection of the liver with Capillaria, which manifests as an acute or subacute hepatitis with eosinophilia. The symptoms include abdominal pain, fever, chills, hepatitis, ascites, hepatolithiasis, and hepatomegaly. url:http://en.wikipedia.org/wiki/Capillaria_hepatica url:http://www.dpd.cdc.gov/DPDx/HTML/Capillariasis.htm A capillariasis that involves infection of the lungs with Capillaria, resulting in fever, cough, asthma, and pneumonia. disease_ontology DOID:0050232 pulmonary capillariasis true A capillariasis that involves infection of the lungs with Capillaria, resulting in fever, cough, asthma, and pneumonia. url:http://www.dpd.cdc.gov/DPDx/HTML/Capillariasis.htm A parasitic protozoa infectious disease that involves infection caused by a free-living ameba Balamuthia mandrillaris resulting in encephalitis and skin lesions in humans and animals. disease_ontology DOID:0050233 Balamuthia mandrillaris infectious disease true A parasitic protozoa infectious disease that involves infection caused by a free-living ameba Balamuthia mandrillaris resulting in encephalitis and skin lesions in humans and animals. url:http://www.cdc.gov/mmwr/preview/mmwrhtml/mm5728a2.htm A parasitic protozoa infectious disease that involves an infection in humans and animals caused by a parasitic protozoan of genus Acanthamoeba, which is an opportunistic pathogen occuring in patients with weakened immune system. DOID:11334 free-living ameba infectious disease disease_ontology DOID:0050234 Acanthamoeba infectious disease true A parasitic protozoa infectious disease that involves an infection in humans and animals caused by a parasitic protozoan of genus Acanthamoeba, which is an opportunistic pathogen occuring in patients with weakened immune system. url:http://en.wikipedia.org/wiki/Acanthamoeba A parasitic protozoa infectious disease that involves infection caused by alveolates, which are single-celled eukaryotes. disease_ontology DOID:0050235 Alveolata infectious disease true A parasitic protozoa infectious disease that involves infection caused by alveolates, which are single-celled eukaryotes. url:http://en.wikipedia.org/wiki/Alveolata A parasitic protozoa infectious disease that involves infection caused by the members of the class Heterolobosea, which move with eruptive bulges and show transformation to a temporary flagellate stage. disease_ontology DOID:0050236 Heterolobosea infectious disease true A parasitic protozoa infectious disease that involves infection caused by the members of the class Heterolobosea, which move with eruptive bulges and show transformation to a temporary flagellate stage. url:http://tolweb.org/Heterolobosea/96360 A parasitic protozoa infectious disease that involves infection caused by euglenozoans, which are single-celled flagellates. disease_ontology DOID:0050237 Euglenozoa infectious disease true A parasitic protozoa infectious disease that involves infection caused by euglenozoans, which are single-celled flagellates. url:http://en.wikipedia.org/wiki/Euglenozoa A parasitic protozoa infectious disease that involves infection caused by parabasalids, which are anaerobic flagellated protozoans. disease_ontology DOID:0050238 Parabasalia infectious disease true A parasitic protozoa infectious disease that involves infection caused by parabasalids, which are anaerobic flagellated protozoans. url:http://en.wikipedia.org/wiki/Parabasalid A parasitic protozoa infectious disease that involves infection caused by fornicates, which are unicellular flagellates with one or two karyomastigonts per cell. disease_ontology DOID:0050239 Fornicata infectious disease true A parasitic protozoa infectious disease that involves infection caused by fornicates, which are unicellular flagellates with one or two karyomastigonts per cell. url:http://tolweb.org/Fornicata/121182 A Parabasalia infectious disease that involves infection with anaerobic flagellate parasites belonging to the order Trichomonadida. They typically have four to six flagella at the cell's apical pole. disease_ontology DOID:0050240 Trichomonadida infectious disease true A Parabasalia infectious disease that involves infection with anaerobic flagellate parasites belonging to the order Trichomonadida. They typically have four to six flagella at the cell's apical pole. url:http://en.wikipedia.org/wiki/Trichomonad A Parabasalia infectious disease that involves infection with anaerobic flagellate parasites belonging to the order Tritrichomonadida, which are characterized by a single mastigont with four flagella, and both a comb-like structure and an infrakinetosomal body. disease_ontology DOID:0050241 Tritrichomonadida infectious disease true A Parabasalia infectious disease that involves infection with anaerobic flagellate parasites belonging to the order Tritrichomonadida, which are characterized by a single mastigont with four flagella, and both a comb-like structure and an infrakinetosomal body. url:http://www.ncbi.nlm.nih.gov/sites/entrez/20093080 A parasitic protozoa infectious disease that involves infection of the central nervous system caused by Naegleria fowleri. The symptoms include headache, nausea, rigidity of the neck muscles, vomiting, delirium, seizures and coma. Naegleria fowleri infection disease_ontology DOID:0050242 primary amebic meningoencephalitis A parasitic protozoa infectious disease that involves infection of the central nervous system caused by Naegleria fowleri. The symptoms include headache, nausea, rigidity of the neck muscles, vomiting, delirium, seizures and coma. url:http://en.wikipedia.org/wiki/Primary_amoebic_meningoencephalitis url:http://www.dpd.cdc.gov/dpdx/HTML/FreeLivingAmebic.htm An Alveolata infectious disease that involves infection caused by the members of the phylum Apicomplexa, which are unicellular, spore forming parasites of animals and humans. disease_ontology DOID:0050243 Apicomplexa infectious disease true An Alveolata infectious disease that involves infection caused by the members of the phylum Apicomplexa, which are unicellular, spore forming parasites of animals and humans. url:http://en.wikipedia.org/wiki/Apicomplexa An Apicomplexa infectious disease that involves infection caused by the members of the class Coccidia, which are spore-forming, single-celled and obligate intracellular parasites of the intestinal tract of animals and humans. disease_ontology DOID:0050244 Coccidia infectious disease true An Apicomplexa infectious disease that involves infection caused by the members of the class Coccidia, which are spore-forming, single-celled and obligate intracellular parasites of the intestinal tract of animals and humans. url:http://en.wikipedia.org/wiki/Coccidia An Apicomplexa infectious disease that involves infection caused by the members of the class Aconoidasida. disease_ontology DOID:0050245 Aconoidasida infectious disease true An Apicomplexa infectious disease that involves infection caused by the members of the class Aconoidasida. url:http://en.wikipedia.org/wiki/Aconoidasida A parasitic protozoa infectious disease that results in infection of the brain caused by Acanthamoeba or Balamuthia mandrillaris. The symptoms include headaches, altered mental status, and focal neurologic deficit, which progresses over several weeks to death. Acanthamoeba encephalitis Acanthamoeba granulomatous encephalitis Granulomatous Amebic Encephalitis due to Acanthamoeba granulomatous amoebic encephalitis disease_ontology DOID:0050246 granulomatous amebic encephalitis A parasitic protozoa infectious disease that results in infection of the brain caused by Acanthamoeba or Balamuthia mandrillaris. The symptoms include headaches, altered mental status, and focal neurologic deficit, which progresses over several weeks to death. url:http://www.dpd.cdc.gov/dpdx/HTML/FreeLivingAmebic.htm A parasitic infectious disease that involves infection caused by parasitic members of the taxon stramenopiles, in which the flagellate cells possess two different shaped flagella. This taxon contains both unicellular and multicellular organisms. disease_ontology DOID:0050247 parasitic stramenopiles infectious disease true A parasitic infectious disease that involves infection caused by parasitic members of the taxon stramenopiles, in which the flagellate cells possess two different shaped flagella. This taxon contains both unicellular and multicellular organisms. url:http://en.wikipedia.org/wiki/Stramenopiles A filarial elephantiasis that involves parasitic infection by the nematode Brugia timori, which inhabits the lymphatics. The symptoms include fever and chronic lymphedema. disease_ontology DOID:0050249 Brugia timori filariasis true A filarial elephantiasis that involves parasitic infection by the nematode Brugia timori, which inhabits the lymphatics. The symptoms include fever and chronic lymphedema. url:http://en.wikipedia.org/wiki/Brugia_timori A parasitic helminthiasis infectious disease that involves parasitic infection of the eyes by Philophthalmus species. External ocular philophthalmiasis manifests as follicular conjunctivitis and superficial keratitis. Sub-conjunctival ocular philophthalmiasis consists of a mild edema with minimal cellular reaction. disease_ontology DOID:0050250 philophthalmiasis A parasitic helminthiasis infectious disease that involves parasitic infection of the eyes by Philophthalmus species. External ocular philophthalmiasis manifests as follicular conjunctivitis and superficial keratitis. Sub-conjunctival ocular philophthalmiasis consists of a mild edema with minimal cellular reaction. url:http://www.dpd.cdc.gov/dpdx/HTML/Philophthalmiasis.htm A parasitic helminthiasis infectious disease that involves infection by metacestode larval stage (coenurus) of Taenia multiceps or Taenia serialis. Coenuri in the skin or subcutaneous tissue present as painless nodules, which manifest on the trunk, sclera, subconjuctiva, neck, shoulders, head and limbs. Coenuri in the central nervous system may cause headache, fever, vomiting, nerve palsies, jacksonian epilepsy, pachymeningitis, obstructive or communicating hydrocephalus, and intracranial arteritis with transient hemiparesis. Coenuri in the eye cause both intraocular and orbital infections. disease_ontology DOID:0050251 coenurosis A parasitic helminthiasis infectious disease that involves infection by metacestode larval stage (coenurus) of Taenia multiceps or Taenia serialis. Coenuri in the skin or subcutaneous tissue present as painless nodules, which manifest on the trunk, sclera, subconjuctiva, neck, shoulders, head and limbs. Coenuri in the central nervous system may cause headache, fever, vomiting, nerve palsies, jacksonian epilepsy, pachymeningitis, obstructive or communicating hydrocephalus, and intracranial arteritis with transient hemiparesis. Coenuri in the eye cause both intraocular and orbital infections. url:http://www.dpd.cdc.gov/dpdx/HTML/Coenurosis.htm A parasitic helminthiasis infectious disease that involves parasitic infection in dogs, cats and humans caused by cysticercoid larvae of Dipylidium caninum through ingestion of larvae contaminated flea, which results in diarrhea and restlessness. disease_ontology DOID:0050252 Dipylidium caninum infectious disease true A parasitic helminthiasis infectious disease that involves parasitic infection in dogs, cats and humans caused by cysticercoid larvae of Dipylidium caninum through ingestion of larvae contaminated flea, which results in diarrhea and restlessness. url:http://en.wikipedia.org/wiki/Dipylidium_caninum url:http://www.dpd.cdc.gov/dpdx/HTML/Dipylidium.htm A parasitic helminthiasis infectious disease that involves parasitic cestode infection caused by Mesocestoides lineatus resulting in nausea, diarrhea, abdominal discomfort and vomiting. disease_ontology DOID:0050253 mesocestoidiasis A parasitic helminthiasis infectious disease that involves parasitic cestode infection caused by Mesocestoides lineatus resulting in nausea, diarrhea, abdominal discomfort and vomiting. url:http://www.dpd.cdc.gov/dpdx/HTML/Mesocestoidiasis.htm A parasitic helminthiasis infectious disease that involves infection of the intestine caused by thorny-headed worms Macracanthorhynchus or Moniliformis moniliformis. The infection has_symptom abdominal pain, has_symptom distension, has_symptom fever, has_symptom decreased appetite, has_symptom nausea, has_symptom vomiting, has_symptom weight loss, has_symptom diarrhea, and has_symptom constipation or has_symptom bloody stools. disease_ontology DOID:0050254 acanthocephaliasis A parasitic helminthiasis infectious disease that involves infection of the intestine caused by thorny-headed worms Macracanthorhynchus or Moniliformis moniliformis. The infection has_symptom abdominal pain, has_symptom distension, has_symptom fever, has_symptom decreased appetite, has_symptom nausea, has_symptom vomiting, has_symptom weight loss, has_symptom diarrhea, and has_symptom constipation or has_symptom bloody stools. url:http://www.dpd.cdc.gov/dpdx/HTML/Acanthocephaliasis.htm A parasitic helminthiasis infectious disease that involves infection of the small intestine in humans, cats, dogs and foxes by the nematode Uncinaria stenocephala. The symptoms include diarrhea and hypoproteinemia in heavier infections. disease_ontology DOID:0050255 Uncinaria stenocephala infectious disease true A parasitic helminthiasis infectious disease that involves infection of the small intestine in humans, cats, dogs and foxes by the nematode Uncinaria stenocephala. The symptoms include diarrhea and hypoproteinemia in heavier infections. url:http://en.wikipedia.org/wiki/Uncinaria_stenocephala A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine, central nervous system and eyes by Angiostrongylus cantonensis or Angiostrongylus costaricensis. disease_ontology DOID:0050256 angiostrongyliasis A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine, central nervous system and eyes by Angiostrongylus cantonensis or Angiostrongylus costaricensis. url:http://www.dpd.cdc.gov/dpdx/HTML/Angiostrongyliasis.htm An angiostrongyliasis that involves infection of the brain by the larvae of Angiostrongylus cantonensis causing eosinophilic meningitis. The symptoms include severe headache, nausea, vomiting, neck stiffness, seizures, and neurologic abnormalities. Ocular invasion by the larvae can occur. disease_ontology DOID:0050257 Angiostrongylus cantonensis infectious disease true An angiostrongyliasis that involves infection of the brain by the larvae of Angiostrongylus cantonensis causing eosinophilic meningitis. The symptoms include severe headache, nausea, vomiting, neck stiffness, seizures, and neurologic abnormalities. Ocular invasion by the larvae can occur. url:http://www.dpd.cdc.gov/dpdx/HTML/Angiostrongyliasis.htm An angiostrongyliasis that involves infection of the intestine by Angiostrongylus costaricensis, which is characterized by the formation of granulomas with heavy eosinophilic infiltration in the abdominal cavity. disease_ontology DOID:0050258 Angiostrongylus costaricensis infectious disease true An angiostrongyliasis that involves infection of the intestine by Angiostrongylus costaricensis, which is characterized by the formation of granulomas with heavy eosinophilic infiltration in the abdominal cavity. url:http://www.ncbi.nlm.nih.gov/sites/entrez/5527668 A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine caused by the larvae of Baylisascaris procyonis, which can invade the spinal cord, brain, and eye of humans, resulting in permanent neurologic damage, blindness, or death. disease_ontology DOID:0050259 baylisascariasis A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine caused by the larvae of Baylisascaris procyonis, which can invade the spinal cord, brain, and eye of humans, resulting in permanent neurologic damage, blindness, or death. url:http://www.dpd.cdc.gov/dpdx/HTML/Baylisascariasis.htm A parasitic helminthiasis infectious disease that involves parasitic infection by the nematode Dioctophyme renale in humans after eating undercooked food. The larvae are found in the subcutaneous nodules and kidneys. disease_ontology DOID:0050260 dioctophymiasis A parasitic helminthiasis infectious disease that involves parasitic infection by the nematode Dioctophyme renale in humans after eating undercooked food. The larvae are found in the subcutaneous nodules and kidneys. url:http://www.dpd.cdc.gov/dpdx/HTML/Dioctophymiasis.htm A parasitic helminthiasis infectious diseasea that involves infection of the eyes in humans by nematode Thelazia callipaeda causing varying degrees of inflammation and lacrimation. In heavier infections, photophobia, edema, conjunctivitis, and blindness occurs. disease_ontology DOID:0050261 thelaziasis A parasitic helminthiasis infectious diseasea that involves infection of the eyes in humans by nematode Thelazia callipaeda causing varying degrees of inflammation and lacrimation. In heavier infections, photophobia, edema, conjunctivitis, and blindness occurs. url:http://www.dpd.cdc.gov/dpdx/HTML/Thelaziasis.htm A parasitic helminthiasis infectious disease that involves infection caused by parasitic worms, which are bilaterian, unsegmented, soft-bodied invertebrate animals with no body cavity. disease_ontology DOID:0050262 Acoelomata infectious disease true A parasitic helminthiasis infectious disease that involves infection caused by parasitic worms, which are bilaterian, unsegmented, soft-bodied invertebrate animals with no body cavity. url:http://en.wikipedia.org/wiki/Flatworm A parasitic helminthiasis infectious disease that involves infection caused by parasitic invertebrates, which have a pseudocoel. Tissue derived from mesoderm only partly lines the fluid filled body cavity of these animals. disease_ontology DOID:0050263 Pseudocoelomata infectious disease true A parasitic helminthiasis infectious disease that involves infection caused by parasitic invertebrates, which have a pseudocoel. Tissue derived from mesoderm only partly lines the fluid filled body cavity of these animals. url:http://en.wikipedia.org/wiki/Body_cavity A Pseudocoelomata infectious disease that involves infection by parasitic worms known as thorny-headed worms, characterized by the presence of an evertable proboscis, armed with spines, which is used to pierce and hold the gut wall of the host. disease_ontology DOID:0050264 Acanthocephala infectious disease true A Pseudocoelomata infectious disease that involves infection by parasitic worms known as thorny-headed worms, characterized by the presence of an evertable proboscis, armed with spines, which is used to pierce and hold the gut wall of the host. url:http://en.wikipedia.org/wiki/Acanthocephala disease_ontology DOID:0050265 tick paralysis true A parasitic ectoparasitic infectious disease that is an inflammatory skin disease caused by the parasitic infestation of the female chigoe flea, Tunga penetrans in animals and humans. The symptoms include skin inflammation, severe pain, itching, and a lesion at the site of infection that is characterized by a black dot at the center of a swollen red lesion, surrounded a white halo. disease_ontology DOID:0050266 tungiasis A parasitic ectoparasitic infectious disease that is an inflammatory skin disease caused by the parasitic infestation of the female chigoe flea, Tunga penetrans in animals and humans. The symptoms include skin inflammation, severe pain, itching, and a lesion at the site of infection that is characterized by a black dot at the center of a swollen red lesion, surrounded a white halo. url:http://en.wikipedia.org/wiki/Tungiasis url:http://www.dpd.cdc.gov/dpdx/HTML/Tungiasis.htm An ancylostomiasis that involves infection of the intestine in dogs and humans by the nematode Ancylostoma caninum. In humans, the larvae migrate to the intestine causing eosinophilic enteritis. They have also been implicated as a cause of diffuse unilateral subacute neuroretinitis. disease_ontology DOID:0050267 Ancylostoma caninum ancylostomiasis true An ancylostomiasis that involves infection of the intestine in dogs and humans by the nematode Ancylostoma caninum. In humans, the larvae migrate to the intestine causing eosinophilic enteritis. They have also been implicated as a cause of diffuse unilateral subacute neuroretinitis. url:http://www.dpd.cdc.gov/dpdx/HTML/Hookworm.htm A myiasis that involves parasitic infestation of Oestrus ovis larvae in the eye causing severe irritation, edema, and pain. disease_ontology DOID:0050268 ophthalmomyiasis A myiasis that involves parasitic infestation of Oestrus ovis larvae in the eye causing severe irritation, edema, and pain. url:http://en.wikipedia.org/wiki/Myiasis url:http://www.dpd.cdc.gov/dpdx/HTML/Myiasis.htm A trichomoniasis that involves infection of the urogenital tract, has_material_basis_in Trichomonas vaginalis, which is transmitted through sexual contact. Symptoms include inflammation of the cervix, urethra and vagina which produce an itching or burning sensation, and yellow-green, itchy, frothy foul-smelling vaginal discharge. urogenital trichomonas disease_ontology DOID:0050269 Trichomonas vaginalis trichomoniasis true A trichomoniasis that involves infection of the urogenital tract, has_material_basis_in Trichomonas vaginalis, which is transmitted through sexual contact. Symptoms include inflammation of the cervix, urethra and vagina which produce an itching or burning sensation, and yellow-green, itchy, frothy foul-smelling vaginal discharge. url:http://en.wikipedia.org/wiki/Trichomoniasis A trichomoniasis that is caused by a singled-celled protozoan parasite Trichomonas tenax, which is transmitted through oral droplets, by kissing, or on fomites such as eating utensils. Trichomonas tenax causes periodonitis and bronchopulmonary trichomoniasis by aspiration from the oropharynx. disease_ontology DOID:0050270 Trichomonas tenax trichomoniasis true A trichomoniasis that is caused by a singled-celled protozoan parasite Trichomonas tenax, which is transmitted through oral droplets, by kissing, or on fomites such as eating utensils. Trichomonas tenax causes periodonitis and bronchopulmonary trichomoniasis by aspiration from the oropharynx. url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4222 url:http://www.ncbi.nlm.nih.gov/sites/entrez/20427914 A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair and located_in nail, has_material_basis_in Ascomycota phylum members. disease_ontology DOID:0050271 cutaneous ascomycota mycosis true A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair and located_in nail, has_material_basis_in Ascomycota phylum members. url:http://en.wikipedia.org/wiki/Ascomycota A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair and located_in nail, has_material_basis_in Basidiomycota phylum members. disease_ontology DOID:0050272 cutaneous basidiomycota mycosis true A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair and located_in nail, has_material_basis_in Basidiomycota phylum members. url:http://en.wikipedia.org/wiki/Basidiomycota A dermatomycosis that results_in fungal infection located_in nail, has_material_basis_in Neoscytalidium dimidiatum and has_symptom rough nail, and has_symptom crumbly nail which can separate from the nail bed. disease_ontology DOID:0050273 Neoscytalidium dimidiatum infectious disease true A dermatomycosis that results_in fungal infection located_in nail, has_material_basis_in Neoscytalidium dimidiatum and has_symptom rough nail, and has_symptom crumbly nail which can separate from the nail bed. url:http://www.doctorfungus.org/mycoses/human/other/skin_index.htm#Onychomycosis url:http://www.ncbi.nlm.nih.gov/sites/entrez/17641983 An opportunistic mycosis that has_material_basis_in Scopulariopsis, which results_in a systemic infection in immunocompromised individuals. disease_ontology DOID:0050274 Scopulariopsis infectious disease true An opportunistic mycosis that has_material_basis_in Scopulariopsis, which results_in a systemic infection in immunocompromised individuals. url:http://www.doctorfungus.org/thefungi/scopulariopsis.htm A dermatomycosis that results_in fungal infection located_in nail, has_material_basis_in Ascomycota fungi which are not dermatophytes and has_symptom opaque nail, has_symptom yellow-brown nail, has_symptom crumbly nail that can separate from the nail bed. disease_ontology DOID:0050275 onychomycosis true A dermatomycosis that results_in fungal infection located_in nail, has_material_basis_in Ascomycota fungi which are not dermatophytes and has_symptom opaque nail, has_symptom yellow-brown nail, has_symptom crumbly nail that can separate from the nail bed. url:http://en.wikipedia.org/wiki/Onychomycosis url:http://www.doctorfungus.org/mycoses/human/other/skin_index.htm#Onychomycosis A subcutaneous mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, has_material_basis_in Ascomycota phylum members. disease_ontology DOID:0050276 subcutaneous ascomycota mycosis true A subcutaneous mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, has_material_basis_in Ascomycota phylum members. url:http://en.wikipedia.org/wiki/Ascomycota url:http://en.wikipedia.org/wiki/Mycosis A subcutaneous mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, has_material_basis_in Fungi incertae sedis taxon members. disease_ontology DOID:0050277 subcutaneous fungi incertae sedis mycosis true A subcutaneous mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, has_material_basis_in Fungi incertae sedis taxon members. url:http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Tree&id=112252&lvl=3&lin=f&keep=1&srchmode=1&unlock A subcutaneous mycosis that involves a chronic inflammatory or granulomatous fungal infection of the subcutaneous tissue of the limbs, chest, back or buttocks caused by Basidiobolus ranarum. Lesions appear as subcutaneous nodules which develop into massive, firm, indurated, painless swellings which are freely movable over the underlying muscle, but are attached to the skin which may become hyperpigmented but not ulcerated. disease_ontology DOID:0050278 basidiobolomycosis A subcutaneous mycosis that involves a chronic inflammatory or granulomatous fungal infection of the subcutaneous tissue of the limbs, chest, back or buttocks caused by Basidiobolus ranarum. Lesions appear as subcutaneous nodules which develop into massive, firm, indurated, painless swellings which are freely movable over the underlying muscle, but are attached to the skin which may become hyperpigmented but not ulcerated. url:http://mycology.adelaide.edu.au/Mycoses/Subcutaneous/Zygomycosis/ An subcutaneous mycosis that is a chronic inflammatory or granulomatous fungal infection caused by Conidiobolus species, which is restricted to the nasal submucosa and characterized by polyps or palpable restricted subcutaneous masses. Symptoms include nasal obstruction, drainage and sinus pain. Subcutaneous nodules develop in the nasal and perinasal regions. disease_ontology DOID:0050279 conidiobolomycosis An subcutaneous mycosis that is a chronic inflammatory or granulomatous fungal infection caused by Conidiobolus species, which is restricted to the nasal submucosa and characterized by polyps or palpable restricted subcutaneous masses. Symptoms include nasal obstruction, drainage and sinus pain. Subcutaneous nodules develop in the nasal and perinasal regions. url:http://mycology.adelaide.edu.au/Mycoses/Subcutaneous/Zygomycosis/ A superficial mycosis that results_in fungal infection of the outermost layer located_in skin and located_in hair shaft, has_material_basis_in Ascomycota phylum members. disease_ontology DOID:0050280 superficial ascomycota mycosis true A superficial mycosis that results_in fungal infection of the outermost layer located_in skin and located_in hair shaft, has_material_basis_in Ascomycota phylum members. url:http://en.wikipedia.org/wiki/Ascomycota A superficial mycosis that results_in fungal infection of the outermost layer located_in skin and located_in hair shaft, has_material_basis_in Basidiomycota phylum members. disease_ontology DOID:0050281 superficial basidiomycota mycosis true A superficial mycosis that results_in fungal infection of the outermost layer located_in skin and located_in hair shaft, has_material_basis_in Basidiomycota phylum members. url:http://en.wikipedia.org/wiki/Basidiomycota A primary systemic mycosis that results_in fungal infection located_in human body, has_material_basis_in Ascomycota phylum members. disease_ontology DOID:0050282 primary systemic ascomycota mycosis true A primary systemic mycosis that results_in fungal infection located_in human body, has_material_basis_in Ascomycota phylum members. url:http://en.wikipedia.org/wiki/Ascomycota url:http://mycology.adelaide.edu.au/Mycoses/Opportunistic/ A primary systemic mycosis that results_in systemic fungal infection in animals and humans, has_material_basis_in Stachybotrys chartarum, transmitted_by airborne spores and transmitted_by vehicle-borne ingestion and the fungus produces trichothecene mycotoxins including satratoxins causing pulmonary hemorrhage in infants. disease_ontology DOID:0050283 Stachybotrys infectious disease true A primary systemic mycosis that results_in systemic fungal infection in animals and humans, has_material_basis_in Stachybotrys chartarum, transmitted_by airborne spores and transmitted_by vehicle-borne ingestion and the fungus produces trichothecene mycotoxins including satratoxins causing pulmonary hemorrhage in infants. url:http://ntp.niehs.nih.gov/ntp/htdocs/Chem_Background/ExSumPdf/Stachybotrys.pdf url:http://www.doh.wa.gov/ehp/ts/iaq/mold-stachybotrys.pdf An opportunistic mycosis that involves infection of the body by fungi belonging to the phylum Ascomycota. disease_ontology DOID:0050284 opportunistic ascomycota mycosis true An opportunistic mycosis that involves infection of the body by fungi belonging to the phylum Ascomycota. url:http://en.wikipedia.org/wiki/Ascomycota url:http://mycology.adelaide.edu.au/Mycoses/Opportunistic/ An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Basidiomycota phylum members. disease_ontology DOID:0050285 opportunistic basidiomycota mycosis true An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Basidiomycota phylum members. url:http://en.wikipedia.org/wiki/Basidiomycota url:http://mycology.adelaide.edu.au/Mycoses/Opportunistic/ An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Fungi incertae sedis taxon members. disease_ontology DOID:0050286 opportunistic fungi incertae sedis mycosis true An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Fungi incertae sedis taxon members. url:http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Tree&id=112252&lvl=3&lin=f&keep=1&srchmode=1&unlock An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Microsporidia phylum members. disease_ontology DOID:0050287 opportunistic microsporidia mycosis true An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Microsporidia phylum members. url:http://en.wikipedia.org/wiki/Microsporidia url:http://mycology.adelaide.edu.au/Mycoses/Opportunistic/ An opportunistic mycosis that has_material_basis_in Penicillium marneffei, results_in systemic infection and has_symptom fever, has_symptom anemia, has_symptom weight loss, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom respiratory signs, and has_symptom skin lesions. disease_ontology DOID:0050288 penicilliosis An opportunistic mycosis that has_material_basis_in Penicillium marneffei, results_in systemic infection and has_symptom fever, has_symptom anemia, has_symptom weight loss, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom respiratory signs, and has_symptom skin lesions. url:http://www.ncbi.nlm.nih.gov/sites/entrez/16418525 An opportunistic mycosis that involves localized or hematogenously disseminated fungal infection by Fusarium solani or Fusarium oxysporum. Skin lesions are seen in neutropenic patients, and indolent cellulitis or soft-tissue necrosis occur in immunocompromised patients at the site of trauma. disease_ontology DOID:0050289 fusariosis An opportunistic mycosis that involves localized or hematogenously disseminated fungal infection by Fusarium solani or Fusarium oxysporum. Skin lesions are seen in neutropenic patients, and indolent cellulitis or soft-tissue necrosis occur in immunocompromised patients at the site of trauma. url:http://www.accessmedicine.com/resourceTOC.aspx?resourceID=4 url:http://www.ncbi.nlm.nih.gov/pubmed/14748803 An opportunistic mycosis that results_in disseminated infection, has_material_basis_in Trichosporon and results_in_formation_of nontender erythematous nodules anywhere on the body. disease_ontology DOID:0050290 trichosporonosis An opportunistic mycosis that results_in disseminated infection, has_material_basis_in Trichosporon and results_in_formation_of nontender erythematous nodules anywhere on the body. url:http://emedicine.medscape.com/article/230705-overview A parasitic infectious disease that involves parasitic infection by the members of the class Ichthyosporea, which are parasites of fish and other animals. disease_ontology DOID:0050291 parasitic Ichthyosporea infectious disease A parasitic infectious disease that involves parasitic infection by the members of the class Ichthyosporea, which are parasites of fish and other animals. url:http://en.wikipedia.org/wiki/Mesomycetozoea A systemic mycosis that results_in infection located_in human body, has_material_basis_in Fungi, which can overcome the physiological and cellular defences of the normal human host. The primary deep pathogens usually gain access to the host via the respiratory tract. disease_ontology DOID:0050292 primary systemic mycosis A systemic mycosis that results_in infection located_in human body, has_material_basis_in Fungi, which can overcome the physiological and cellular defences of the normal human host. The primary deep pathogens usually gain access to the host via the respiratory tract. url:http://mycology.adelaide.edu.au/Mycoses/Dimorphic_systemic/ An opportunistic mycosis that results_in fungal infection located_in nail, has_material_basis_in Scopulariopsis brevicaulis and has_symptom rough nail, and has_symptom crumbly nail which can separate from the nail bed. disease_ontology DOID:0050293 Scopulariopsis brevicaulis infectious disease true An opportunistic mycosis that results_in fungal infection located_in nail, has_material_basis_in Scopulariopsis brevicaulis and has_symptom rough nail, and has_symptom crumbly nail which can separate from the nail bed. url:http://www.doctorfungus.org/thefungi/Scopulariopsis_brevicaulis.htm A dermatomycosis that results_in fungal infection located_in hand, foot and nail of toe by Scytalidium hyalinum, resulting_in_formation_of lesions and has_symptom keratotic plantar surface. disease_ontology DOID:0050294 Scytalidium hyalinum infectious disease true A dermatomycosis that results_in fungal infection located_in hand, foot and nail of toe by Scytalidium hyalinum, resulting_in_formation_of lesions and has_symptom keratotic plantar surface. url:http://archderm.ama-assn.org/cgi/reprint/127/7/1041.pdf url:http://www.ncbi.nlm.nih.gov/sites/entrez/444431 A primary systemic mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue through direct inoculation from wood splinters or hay, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which results_in_formation_of erythematous papulonodular lesions evolving into either smooth or verrucose painless nodules that may ulcerate and drain. plaque sporotrichosis disease_ontology DOID:0050295 cutaneous sporotrichosis true A primary systemic mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue through direct inoculation from wood splinters or hay, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which results_in_formation_of erythematous papulonodular lesions evolving into either smooth or verrucose painless nodules that may ulcerate and drain. url:http://mycology.adelaide.edu.au/Mycoses/Subcutaneous/Sporotrichosis/ url:http://www.doctorfungus.org/mycoses/human/sporo/sporotrichosis.htm A dsDNA virus infectious disease that results_in infection in pigs, has_material_basis_in Asfarviridae viruses, which are transmitted_by soft tick bite. disease_ontology DOID:0050296 Asfarviridae infectious disease true A dsDNA virus infectious disease that results_in infection in pigs, has_material_basis_in Asfarviridae viruses, which are transmitted_by soft tick bite. url:http://en.wikipedia.org/wiki/Asfarviridae disease_ontology DOID:0050297 primary Francisellaceae infectious disease true A viral infectious disease that results_in infection in cattle, dogs, horses, pigs, and humans, has_material_basis_in Adenoviridae viruses. DOID:3123 DOID:3124 Adenoviridae infectious disease disease_ontology DOID:0050298 adenovirus infectious disease true A viral infectious disease that results_in infection in cattle, dogs, horses, pigs, and humans, has_material_basis_in Adenoviridae viruses. url:http://en.wikipedia.org/wiki/Adenoviridae A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Simplexvirus. disease_ontology DOID:0050299 Simplexvirus infectious disease true A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Simplexvirus. url:http://en.wikipedia.org/wiki/Simplexvirus A (-)ssRNA virus infectious disease that results_in infection located_in liver in humans, has_material_basis_in Deltavirus. disease_ontology DOID:0050300 Deltavirus infectious disease true A (-)ssRNA virus infectious disease that results_in infection located_in liver in humans, has_material_basis_in Deltavirus. url:http://en.wikipedia.org/wiki/Deltavirus A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Polyomaviridae viruses. disease_ontology DOID:0050301 Polyomaviridae infectious disease true A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Polyomaviridae viruses. url:http://en.wikipedia.org/wiki/Papillomaviridae A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Varicellovirus. disease_ontology DOID:0050302 Varicellovirus infectious disease true A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Varicellovirus. url:http://en.wikipedia.org/wiki/Varicellovirus url:http://www.expasy.org/viralzone/all_by_species/179.html A Flaviviridae infectious disease that results_in infection, has_material_basis_in Hepacivirus, which is transmitted_by sexual contact, or transmitted_by blood transfusion. disease_ontology DOID:0050303 Hepacivirus infectious disease true A Flaviviridae infectious disease that results_in infection, has_material_basis_in Hepacivirus, which is transmitted_by sexual contact, or transmitted_by blood transfusion. url:http://www.cdc.gov/hepatitis/hcv/pdfs/hepcgeneralfactsheet.pdf url:http://www.expasy.org/viralzone/all_by_species/37.html disease_ontology DOID:0050304 aniseikonia A Nidovirales infectious disease that results_in infection in animals, has_material_basis_in Arteriviridae viruses. disease_ontology DOID:0050305 Arteriviridae infectious disease true A Nidovirales infectious disease that results_in infection in animals, has_material_basis_in Arteriviridae viruses. url:http://www.expasy.org/viralzone/all_by_species/28.html disease_ontology DOID:0050306 OMIM mapping confirmed by DO. [SN]. familial abdominal aortic aneurysm true A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Bornaviridae viruses. disease_ontology DOID:0050307 Bornaviridae infectious disease true A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Bornaviridae viruses. url:http://en.wikipedia.org/wiki/Bornaviridae A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Alkhurma hemorrhagic fever virus, which is transmitted_by Ornithodoros savignyi tick bite, transmitted_by ingestion of unpasteurized camel milk, or transmitted_by entry via skin wound. The infection has_symptom headache, has_symptom joint pain, has_symptom muscle pain, has_symptom vomiting, has_symptom thrombocytopenia, and has_symptom hemorrhagic fever. disease_ontology DOID:0050308 Alkhurma hemorrhagic fever A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Alkhurma hemorrhagic fever virus, which is transmitted_by Ornithodoros savignyi tick bite, transmitted_by ingestion of unpasteurized camel milk, or transmitted_by entry via skin wound. The infection has_symptom headache, has_symptom joint pain, has_symptom muscle pain, has_symptom vomiting, has_symptom thrombocytopenia, and has_symptom hemorrhagic fever. url:http://en.wikipedia.org/wiki/Alkhurma_virus url:www.episouth.org/download.php?&id=7266 A viral infectious disease that results_in infection, has_material_basis_in Measles virus, which is transmitted_by droplet spread, or trasnmitted_by contact of oronasal secretions from an infected person. disease_ontology DOID:0050309 Measles virus infectious disease true A viral infectious disease that results_in infection, has_material_basis_in Measles virus, which is transmitted_by droplet spread, or trasnmitted_by contact of oronasal secretions from an infected person. url:http://en.wikipedia.org/wiki/Measles disease_ontology DOID:0050310 primary Listeriaceae infectious disease true disease_ontology DOID:0050311 primary Helicobacteraceae infectious disease true disease_ontology DOID:0050312 primary Campylobacteraceae infectious disease true disease_ontology DOID:0050313 primary Brucellaceae infectious disease true disease_ontology DOID:0050314 primary Erysipelotrichaceae infectious disease true disease_ontology DOID:0050315 commensal Clostridiaceae infectious disease true disease_ontology DOID:0050316 commensal Staphylococcaceae infectious disease true disease_ontology DOID:0050317 commensal Streptococcaceae infectious disease true disease_ontology DOID:0050318 primary Burkholderiaceae infectious disease true disease_ontology DOID:0050319 primary Legionellaceae infectious disease true disease_ontology DOID:0050320 commensal Alcaligenaceae infectious disease true disease_ontology DOID:0050321 opportunistic Pseudomonadaceae infectious disease true disease_ontology DOID:0050322 primary Vibrionaceae infectious disease true disease_ontology DOID:0050323 primary Coxiellaceae infectious disease true A disorder that has an available objective mechanical test (such as chemical tests or brain scans), and are diagnosed only by behavioral syndrome (such as those in the Diagnostic and Statistical Manual of Mental Disorders (DSM). disease_ontology DOID:0050324 physical disorder OBSOLETED TERM true A disorder that has an available objective mechanical test (such as chemical tests or brain scans), and are diagnosed only by behavioral syndrome (such as those in the Diagnostic and Statistical Manual of Mental Disorders (DSM). url:http://en.wikipedia.org/wiki/Physical_disorder A medical disorder that is an illness caused by abnormalities in genes or chromosomes. disease_ontology DOID:0050325 genetic disorder true A medical disorder that is an illness caused by abnormalities in genes or chromosomes. url:http://en.wikipedia.org/wiki/Genetic_disorder url:http://www.ornl.gov/sci/techresources/Human_Genome/medicine/assist.shtml Peripheral Dysostosis-Nasal Hypoplasia-Mental Retardation disease_ontology DOID:0050327 OMIM mapping confirmed by DO. [SN]. peripheral dysostosis true A hypothyroidism that is present at birth. DOID:11631 DOID:11632 ICD10CM:E00.1 ICD10CM:E03.1 ICD9CM:243 MESH:D003409 NCI:C26734 NCI:C98921 OMIM:218700 OMIM:225250 OMIM:274400 OMIM:274500 OMIM:274700 OMIM:274900 OMIM:275100 OMIM:275200 OMIM:607200 OMIM:609893 OMIM:614450 SNOMEDCT_US_2016_03_01:154660000 SNOMEDCT_US_2016_03_01:154661001 SNOMEDCT_US_2016_03_01:190268003 SNOMEDCT_US_2016_03_01:190273009 SNOMEDCT_US_2016_03_01:217710005 SNOMEDCT_US_2016_03_01:267376007 SNOMEDCT_US_2016_03_01:267465007 SNOMEDCT_US_2016_03_01:3614006 SNOMEDCT_US_2016_03_01:75065003 UMLS_CUI:C0010308 UMLS_CUI:C0342200 cretinism disease_ontology DOID:0050328 Xref MGI. OMIM mapping confirmed by DO. [SN]. congenital hypothyroidism A hypothyroidism that is present at birth. url:http://en.wikipedia.org/wiki/Congenital_hypothyroidism url:http://ghr.nlm.nih.gov/condition/congenital-hypothyroidism cretinism CSP2005:2928-6883 A disorder that is a psychological or behavioral pattern associated with distress or disability that occurs in an individual and is not a part of normal development or culture. disease_ontology DOID:0050329 mental disorder true A disorder that is a psychological or behavioral pattern associated with distress or disability that occurs in an individual and is not a part of normal development or culture. url:http://en.wikipedia.org/wiki/Classification_of_mental_disorders url:http://en.wikipedia.org/wiki/Mental_disorder An autosomal dominant disease that is characterized by abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes. OMIM:149730 LEVY-HOLLISTER SYNDROME lacrimoauriculodentodigital syndrome disease_ontology DOID:0050331 OMIM mapping confirmed by DO. [SN]. LADD syndrome An autosomal dominant disease that is characterized by abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes. url:http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=LADD%20Syndrome OMIM:600791 disease_ontology DOID:0050332 OMIM mapping confirmed by DO. [SN]. enlarged vestibular aqueduct disease_ontology DOID:0050333 congenital anosmia true PHENYLTHIOCARBAMIDE TASTING, INCLUDED PROPYLTHIOURACIL TASTING, INCLUDED disease_ontology DOID:0050334 thiourea tasting true A retinal disease characterized by the slower than usual adaptation of the eyes to changing light conditions; can have material basis in mutations in the RGS9 or the R9AP genes. MESH:C564243 OMIM:608415 ORDO:75374 SNOMEDCT_US_2016_03_01:711163009 UMLS_CUI:C1842073 prolonged electroretinal response suppression disease_ontology DOID:0050335 bradyopsia A retinal disease characterized by the slower than usual adaptation of the eyes to changing light conditions; can have material basis in mutations in the RGS9 or the R9AP genes. url:http://ghr.nlm.nih.gov/condition/bradyopsia url:http://www.ncbi.nlm.nih.gov/pubmed/?term=17826834 disease_ontology DOID:0050336 hypophosphatemia disease_ontology DOID:0050337 Burkholderia cepacia infectious disease true A bacterial infectious disease that results_in infection by bacteria as a result of their presence or activity within the normal, healthy host, and their intrinsic virulence is, in part, a necessary consequence of their need to reproduce and spread. disease_ontology DOID:0050338 primary bacterial infectious disease A bacterial infectious disease that results_in infection by bacteria as a result of their presence or activity within the normal, healthy host, and their intrinsic virulence is, in part, a necessary consequence of their need to reproduce and spread. url:http://en.wikipedia.org/wiki/Infectious_disease A bacterial infectious disease that results_in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder. disease_ontology DOID:0050339 commensal bacterial infectious disease A bacterial infectious disease that results_in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder. url:http://books.google.com/books?id=mgmataMQjMwC&pg=PA388&lpg#v=onepage&q&f=false A bacterial infectious disease that results_in infection by bacteria in individuals whose host defense mechanisms have been compromised. disease_ontology DOID:0050340 opportunistic bacterial infectious disease A bacterial infectious disease that results_in infection by bacteria in individuals whose host defense mechanisms have been compromised. url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A545 disease_ontology DOID:0050341 opportunistic Actinomycetales infectious disease true A commensal bacterial infectious disease that results_in infection, has_material_basis_in Actinomycetales bacteria, which are part of the normal human flora. disease_ontology DOID:0050342 commensal Actinomycetales infectious disease true A commensal bacterial infectious disease that results_in infection, has_material_basis_in Actinomycetales bacteria, which are part of the normal human flora. url:www.sovegastro.com/pdf/ACTINOMICOSIS%20ABDOMINAL.pdf disease_ontology DOID:0050343 Gardnerella vaginalis vaginosis true disease_ontology DOID:0050344 commensal Bifidobacteriaceae infectious disease true disease_ontology DOID:0050345 primary Thermomonosporaceae infectious disease true disease_ontology DOID:0050346 primary Corynebacteriaceae infectious disease true disease_ontology DOID:0050347 primary Mycobacteriaceae infectious disease true disease_ontology DOID:0050348 primary Streptomycetaceae infectious disease true disease_ontology DOID:0050349 opportunistic Nocardiaceae infectious disease true disease_ontology DOID:0050350 primary Clostridiaceae infectious disease true disease_ontology DOID:0050351 primary Clostridium infectious disease true A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), which are transmitted_by ingestion of food contaminated with preformed toxins, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F. The infection has_symptom blurred vision, has_symptom diplopia, has_symptom dysarthria, has_symptom dysphonia, has_symptom dysphagia and has_symptom descending muscle paralysis. disease_ontology DOID:0050352 foodborne botulism A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), which are transmitted_by ingestion of food contaminated with preformed toxins, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F. The infection has_symptom blurred vision, has_symptom diplopia, has_symptom dysarthria, has_symptom dysphonia, has_symptom dysphagia and has_symptom descending muscle paralysis. url:http://www.health.state.nm.us/erd/HealthData/Foodborne/Botulism.pdf A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted_by contact of spores with the open wounds, which then reproduce in an anaerobic environment to produce toxins. disease_ontology DOID:0050353 wound botulism A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted_by contact of spores with the open wounds, which then reproduce in an anaerobic environment to produce toxins. url:http://www.who.int/mediacentre/factsheets/fs270/en/ A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA or B) in infants, has_material_basis_in Clostridium botulinum A or has_material_basis_in Clostridium botulinum B, which are transmitted_by ingestion of bacterial spores, which then grow in the intestine and release toxins. The infection has_symptom constipation, has_symptom lethargy, has_symptom difficulty feeding, has_symptom swallowing, has_symptom ptosis, has_symptom loss of head control, and has_symptom muscle weakness. disease_ontology DOID:0050354 infant botulism A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA or B) in infants, has_material_basis_in Clostridium botulinum A or has_material_basis_in Clostridium botulinum B, which are transmitted_by ingestion of bacterial spores, which then grow in the intestine and release toxins. The infection has_symptom constipation, has_symptom lethargy, has_symptom difficulty feeding, has_symptom swallowing, has_symptom ptosis, has_symptom loss of head control, and has_symptom muscle weakness. url:http://www.health.state.nm.us/erd/HealthData/Foodborne/Botulism.pdf disease_ontology DOID:0050355 opportunistic Burkholderiaceae infectious disease true disease_ontology DOID:0050357 Burkholderia cenocepacia infectious disease true disease_ontology DOID:0050358 commensal Chlamydiaceae infectious disease true disease_ontology DOID:0050359 Bilophila wadsworthia necrotizing fasciitis true disease_ontology DOID:0050360 commensal Enterobacteriaceae infectious disease true disease_ontology DOID:0050361 opportunistic Enterobacteriaceae infectious disease true disease_ontology DOID:0050362 Elizabethkingia meningoseptica infectious disease true disease_ontology DOID:0050363 Capnocytophaga canimorsus infectious disease true disease_ontology DOID:0050364 opportunistic Flavobacteriaceae infectious disease true disease_ontology DOID:0050365 Chryseobacterium indologenes infectious disease true disease_ontology DOID:0050366 Empedobacter brevis endophthalmitis true disease_ontology DOID:0050367 Myroides odoratus necrotizing fasciitis true disease_ontology DOID:0050368 commensal Fusobacteriaceae infectious disease true disease_ontology DOID:0050369 primary Mycoplasmataceae infectious disease true disease_ontology DOID:0050370 commensal Neisseriaceae infectious disease true disease_ontology DOID:0050371 commensal Pasteurellaceae infectious disease true disease_ontology DOID:0050372 commensal Haemophilus infectious disease true disease_ontology DOID:0050373 Leptospiraceae infectious disease true disease_ontology DOID:0050374 Spirochaetaceae infectious disease true disease_ontology DOID:0050375 primary Spirillaceae infectious disease true disease_ontology DOID:0050376 anaplasmosis true DOID:0050356 disease_ontology DOID:0050377 Burkholderia cepacia complex infectious disease true disease_ontology DOID:0050378 opportunistic Campylobacteraceae infectious disease true disease_ontology DOID:0050379 Campylobacter fetus infectious disease true disease_ontology DOID:0050380 Campylobacter coli infectious disease true disease_ontology DOID:0050381 Chlamydia trachomatis epididymitis true A tularemia that results_in swelling of regional lymph glands. disease_ontology DOID:0050382 glandular tularemia A tularemia that results_in swelling of regional lymph glands. url:http://www.cdc.gov/tularemia/signssymptoms/ A tularemia that results_in bacteremia and has_symptom fever, has_symptom chills, has_symptom myalgia, has_symptom malaise, and has_symptom weight loss. disease_ontology DOID:0050383 typhoidal tularemia A tularemia that results_in bacteremia and has_symptom fever, has_symptom chills, has_symptom myalgia, has_symptom malaise, and has_symptom weight loss. url:http://emedicine.medscape.com/article/230923-clinical disease_ontology DOID:0050384 commensal Helicobacteraceae infectious disease true disease_ontology DOID:0050385 commensal Helicobacter infectious disease true disease_ontology DOID:0050386 Acinetobacter baumannii pneumonia true OMIM:144700 disease_ontology DOID:0050387 OMIM mapping confirmed by DO. [SN]. nonpapillary renal cell carcinoma disease_ontology DOID:0050388 Bacteroides fragilis peritonitis true disease_ontology DOID:0050389 Capnocytophaga canimorsus meningitis true disease_ontology DOID:0050390 Capnocytophaga canimorsus endocarditis true disease_ontology DOID:0050391 Elizabethkingia meningoseptica meningitis true disease_ontology DOID:0050392 streptococcal necrotizing fasciitis true disease_ontology DOID:0050393 Chryseobacterium indologenes pneumonia true disease_ontology DOID:0050394 nocardial pneumonia true disease_ontology DOID:0050395 nocardial cellulitis true disease_ontology DOID:0050396 nocardial keratitis true disease_ontology DOID:0050397 cerebral Bilophila wadsworthia infectious disease true A bartonellosis that results_in infection located_in endothelial cells or located_in red blood cells, has_material_basis_in Bartonella bacilliformis, which is transmitted_by sandflies of genus Lutzomyia. The infection has acute and chronic phases. The acute phase is characterized by severe hemolytic anemia and transient immunosuppression. The chronic phase is characterized by verruga peruana lesions which may ulcerate and bleed. Carrion disease Oroya fever disease_ontology DOID:0050398 Carrion's disease A bartonellosis that results_in infection located_in endothelial cells or located_in red blood cells, has_material_basis_in Bartonella bacilliformis, which is transmitted_by sandflies of genus Lutzomyia. The infection has acute and chronic phases. The acute phase is characterized by severe hemolytic anemia and transient immunosuppression. The chronic phase is characterized by verruga peruana lesions which may ulcerate and bleed. url:http://emedicine.medscape.com/article/213169-clinical#a0217 url:http://en.wikipedia.org/wiki/Carrion%27s_disease disease_ontology DOID:0050399 Bordetella pertussis whooping cough true disease_ontology DOID:0050400 Pseudomonas urinary tract infectious disease true disease_ontology DOID:0050401 Pseudomonas endocarditis true disease_ontology DOID:0050402 Pseudomonas keratitis true disease_ontology DOID:0050403 commensal Mycoplasmatales infectious disease true disease_ontology DOID:0050404 commensal Mycoplasmataceae infectious disease true disease_ontology DOID:0050405 Mycoplasma genitalium urethritis true disease_ontology DOID:0050406 Yersinia pseudotuberculosis mesenteric lymphadenitis true disease_ontology DOID:0050407 commensal Mycoplasma infectious disease true disease_ontology DOID:0050408 Staphylococcus aureus ecthyma true disease_ontology DOID:0050409 Streptococcus pyogenes ecthyma true disease_ontology DOID:0050410 streptococcal erysipelas true disease_ontology DOID:0050411 Staphylococcus aureus erysipelas true disease_ontology DOID:0050412 Streptococcus impetigo true disease_ontology DOID:0050413 Staphylococcus aureus impetigo true disease_ontology DOID:0050414 Streptococcus lymphangitis true disease_ontology DOID:0050415 Staphylococcus aureus lymphangitis true disease_ontology DOID:0050416 Streptococcus agalactiae meningitis true Streptococcus dysgalactiae subsp. equisimilis meningitis disease_ontology DOID:0050417 Streptococcus equisimilis meningitis true Streptococcus equi subsp. zooepidemicus meningitis disease_ontology DOID:0050418 Streptococcus zooepidemicus meningitis true OMIM:610984 C3 INACTIVATOR DEFICIENCY COMPLEMENT COMPONENT 3 INACTIVATOR DEFICIENCY disease_ontology DOID:0050419 OMIM mapping confirmed by DO. [SN]. complement factor I deficiency disease_ontology DOID:0050420 primary Streptococcaceae infectious disease true disease_ontology DOID:0050421 primary streptococcal infectious disease true disease_ontology DOID:0050422 Yersinia pseudotuberculosis gastroenteritis true enteroaggregative E.coli infection disease_ontology DOID:0050423 enteroaggregative Escherichia coli infectious disease true An autosomal dominant disease that is has material basis in mutations in the APC gene and involves formation of numerous polyps in the epithelium of the large intestine which are initially benign and later transform into colon cancer. MESH:D011125 NCI:C3339 OMIM:175100 OMIM:608456 SNOMEDCT_US_2016_03_01:154609001 SNOMEDCT_US_2016_03_01:188828009 SNOMEDCT_US_2016_03_01:269636003 SNOMEDCT_US_2016_03_01:423471004 SNOMEDCT_US_2016_03_01:70921007 SNOMEDCT_US_2016_03_01:72900001 UMLS_CUI:C0032580 UMLS_CUI:C2713442 UMLS_CUI:C2713443 adenomatous polyposis of the colon disease_ontology DOID:0050424 OMIM mapping confirmed by DO. [SN]. familial adenomatous polyposis An autosomal dominant disease that is has material basis in mutations in the APC gene and involves formation of numerous polyps in the epithelium of the large intestine which are initially benign and later transform into colon cancer. DO:ls url:http://en.wikipedia.org/wiki/Familial_adenomatous_polyposis url:http://www.omim.org/entry/175100?search=adenomatous%20polyposis A central nervous system disease characterized by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them. EFO:0004270 ICD10CM:G25.81 ICD9CM:333.94 MESH:D012148 NCI:C84501 OMIM:102300 OMIM:610438 OMIM:610439 OMIM:611185 OMIM:611242 OMIM:612853 OMIM:615197 SNOMEDCT_US_2016_03_01:32914008 SNOMEDCT_US_2016_03_01:393579008 UMLS_CUI:C0035258 WED Willis-Ekbom disease Wittmaack-Ekbom syndrome disease_ontology DOID:0050425 Xref MGI. restless legs syndrome A central nervous system disease characterized by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them. url:http://en.wikipedia.org/wiki/Restless_legs_syndrome url:http://www.ninds.nih.gov/disorders/restless_legs/detail_restless_legs.htm EFO:0004276 ICD10CM:L51.1 ICD10CM:L51.2 ICD9CM:695.13 ICD9CM:695.15 MESH:D013262 NCI:C79484 NCI:C79777 SNOMEDCT_US_2016_03_01:156362004 SNOMEDCT_US_2016_03_01:200919006 SNOMEDCT_US_2016_03_01:23067006 SNOMEDCT_US_2016_03_01:238819008 SNOMEDCT_US_2016_03_01:267848009 SNOMEDCT_US_2016_03_01:403609001 SNOMEDCT_US_2016_03_01:73442001 UMLS_CUI:C0014518 UMLS_CUI:C0038325 UMLS_CUI:C1274933 UMLS_CUI:C3658301 UMLS_CUI:C3658302 disease_ontology DOID:0050426 Stevens-Johnson syndrome An autosomal recessive disease that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair. ICD10CM:Q82.1 MESH:D014983 NCI:C3452 ORDO:910 SNOMEDCT_US_2016_03_01:44600005 UMLS_CUI:C0043346 disease_ontology DOID:0050427 OMIM mapping confirmed by DO. [SN]. xeroderma pigmentosum An autosomal recessive disease that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair. url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/339/viewAbstract A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles. MESH:D015776 NCI:C3147 OMIM:600962 OMIM:613000 OMIM:615735 ORDO:2337 SNOMEDCT_US_2016_03_01:205584004 SNOMEDCT_US_2016_03_01:28596004 SNOMEDCT_US_2016_03_01:400123002 SNOMEDCT_US_2016_03_01:81206005 UMLS_CUI:C0022584 UMLS_CUI:C3489771 Thost-Unna Syndrome Unna-Thost Syndrome diffuse nonepidermolytic palmomplantar keratoderma tylosis disease_ontology DOID:0050428 Xref MGI. OMIM mapping confirmed by DO. [SN]. nonepidermolytic palmoplantar keratoderma A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles. url:http://en.wikipedia.org/wiki/Palmoplantar_keratoderma ICD10CM:Q82.8 MESH:D016506 NCI:C82865 OMIM:169600 SNOMEDCT_US_2016_03_01:79468000 UMLS_CUI:C0085106 BENIGN CHRONIC PEMPHIGUS Pemphigus, Benign Familial disease_ontology DOID:0050429 OMIM mapping confirmed by DO. [SN]. Hailey-Hailey disease An autosomal dominant disease characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis. ICD10CM:E31.22 ICD9CM:258.02 MESH:D018813 NCI:C3226 OMIM:171400 ORDO:247698 SNOMEDCT_US_2016_03_01:61808009 UMLS_CUI:C0025268 MEN2A Sipple syndrome multiple endocrine neoplasia II disease_ontology DOID:0050430 OMIM mapping confirmed by DO. [SN]. multiple endocrine neoplasia type 2A An autosomal dominant disease characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis. url:http://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia url:http://www.merckmanuals.com/professional/endocrine_and_metabolic_disorders/multiple_endocrine_neoplasia_men_syndromes/multiple_endocrine_neoplasia_type_2a_men_2a.html url:http://www.ncbi.nlm.nih.gov/pubmed/15965261 url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1244/viewAbstract An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle. MESH:D019571 NCI:C84571 OMIM:PS107970 ORDO:217656 ORDO:247 SNOMEDCT_US_2016_03_01:253528005 SNOMEDCT_US_2016_03_01:281170005 UMLS_CUI:C0349788 ARVC ARVC cardiomyopathy ARVD arrhythmogenic right ventricular dysplasia arrhythmogenic right ventricular dysplasia/cardiomyopathy disease_ontology DOID:0050431 Xref MGI. OMIM mapping confirmed by DO. [SN]. arrhythmogenic right ventricular cardiomyopathy An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle. url:http://en.wikipedia.org/wiki/Arrhythmogenic_right_ventricular_dysplasia url:http://ghr.nlm.nih.gov/condition/arrhythmogenic-right-ventricular-cardiomyopathy url:http://my.clevelandclinic.org/services/heart/disorders/arvd url:http://www.hopkinsmedicine.org/heart_vascular_institute/clinical_services/centers_excellence/arvd/patient_resources/questions.html An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development. ICD10CM:F84.5 MESH:D020817 NCI:C97159 OMIM:300494 OMIM:300497 OMIM:608631 OMIM:608638 OMIM:608781 OMIM:609954 ORDO:1162 SNOMEDCT_US_2016_03_01:154879004 SNOMEDCT_US_2016_03_01:192586006 SNOMEDCT_US_2016_03_01:23560001 UMLS_CUI:C0236792 disease_ontology DOID:0050432 Xref MGI. OMIM mapping confirmed by DO. [SN]. Asperger syndrome An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development. url:http://en.wikipedia.org/wiki/Asperger_syndrome url:www.neurodevnet.ca ICD10CM:A81.83 ICD9CM:046.72 MESH:D034062 NCI:C84711 OMIM:600072 SNOMEDCT_US_2016_03_01:83157008 UMLS_CUI:C0206042 disease_ontology DOID:0050433 OMIM mapping confirmed by DO. [SN]. fatal familial insomnia A long QT syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly. MESH:D050030 NCI:C84559 OMIM:170390 ORDO:37553 SNOMEDCT_US_2016_03_01:422348008 UMLS_CUI:C1563715 ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS ATS Andersen syndrome LQT7 Long QT syndrome 7 Potassium-Sensitive Cardiodysrhythmic Type disease_ontology DOID:0050434 OMIM mapping confirmed by DO. [SN]. Andersen-Tawil syndrome A long QT syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly. url:http://en.wikipedia.org/wiki/Andersen%E2%80%93Tawil_syndrome url:http://en.wikipedia.org/wiki/Long_QT_syndrome MESH:D050336 NCI:C84906 OMIM:253250 SNOMEDCT_US_2016_03_01:81604003 UMLS_CUI:C0524582 Muscle-Liver-Brain-Eye Nanism PERICARDIAL CONSTRICTION AND GROWTH FAILURE Perheentupa Syndrome disease_ontology DOID:0050436 OMIM mapping confirmed by DO. [SN]. mulibrey nanism MESH:D052120 NCI:C84735 OMIM:300257 SNOMEDCT_US_2016_03_01:419097006 UMLS_CUI:C0878677 ANTOPOL DISEASE PSEUDOGLYCOGENOSIS II disease_ontology DOID:0050437 OMIM mapping confirmed by DO. [SN]. Danon disease MESH:D052159 NCI:C122805 OMIM:136680 SNOMEDCT_US_2016_03_01:445431000 UMLS_CUI:C0950122 disease_ontology DOID:0050438 OMIM mapping confirmed by DO. [SN]. Frasier syndrome A syndrome characterized by a combination of hearing loss and visual impairment. MESH:D052245 NCI:C85217 OMIM:PS276900 ORDO:886 SNOMEDCT_US_2016_03_01:57838006 SNOMEDCT_US_2016_03_01:73119000 UMLS_CUI:C0271097 UMLS_CUI:C1568248 UMLS_CUI:C1568249 UMLS_CUI:C2931205 disease_ontology DOID:0050439 Xref MGI. OMIM mapping confirmed by DO. [LS]. Usher syndrome A syndrome characterized by a combination of hearing loss and visual impairment. url:http://en.wikipedia.org/wiki/Usher_syndrome A lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life. MESH:D052496 NCI:C84708 OMIM:151660 OMIM:604367 OMIM:608600 OMIM:613877 OMIM:615238 SNOMEDCT_US_2016_03_01:49292002 UMLS_CUI:C0271694 UMLS_CUI:C1720859 UMLS_CUI:C1720860 UMLS_CUI:C1720861 Dunnigan Syndrome Koberling-Dunnigan Syndrome disease_ontology DOID:0050440 Xref MGI. OMIM mapping confirmed by DO. [SN]. familial partial lipodystrophy A lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life. url:http://en.wikipedia.org/wiki/Familial_partial_lipodystrophy url:http://omim.org/entry/608600 MESH:D052517 NCI:C84908 OMIM:272200 SNOMEDCT_US_2016_03_01:254076009 SNOMEDCT_US_2016_03_01:54898003 UMLS_CUI:C0268263 UMLS_CUI:C1720864 Sulfatidosis, Juvenile, Austin Type multiple sulfatase deficiency disease disease_ontology DOID:0050441 OMIM mapping confirmed by DO. [SN]. mucosulfatidosis ICD10CM:G60.1 MESH:D052919 NCI:C84789 OMIM:266510 SNOMEDCT_US_2016_03_01:238062008 UMLS_CUI:C0282527 infantile phytanic acid storage disease disease_ontology DOID:0050444 OMIM mapping confirmed by DO. [SN]. infantile Refsum disease A rickets that results has_material_basis in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization. ICD10:E83.31 MESH:D053098 NCI:C85234 OMIM:300554 OMIM:307800 UMLS_CUI:C0733682 UMLS_CUI:C1845168 UMLS_CUI:C3540852 Hypophosphatemia, Vitamin D-Resistant Rickets Rickets, Vitamin D-Resistant Vitamin D-Resistant Rickets, X-Linked X-linked hypophosphatemia hypophosphatemic rickets X-linked dominant disease_ontology DOID:0050445 OMIM mapping confirmed by DO. [SN]. X-linked hypophosphatemic rickets A rickets that results has_material_basis in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization. url:http://emedicine.medscape.com/article/922305-overview url:http://en.wikipedia.org/wiki/X-linked_hypophosphatemia url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=11911&Disease_Disease_Search_diseaseGroup=rickets&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=X-linked-hypophosphatemia--X-linked-hypophosphatemic-rickets-&title=X-linked-hypophosphatemia--X-linked-hypophosphatemic-rickets-&search=Disease_Search_Simple A skin disease characterized by a defect in the normal process of keratinization of the mucosa. MESH:D053529 NCI:C84760 OMIM:193900 OMIM:615785 ORDO:171723 SNOMEDCT_US_2016_03_01:389203001 SNOMEDCT_US_2016_03_01:62953009 SNOMEDCT_US_2016_03_01:85388002 UMLS_CUI:C1721005 white sponge nevus white sponge nevus of Cannon disease_ontology DOID:0050448 Xref MGI. OMIM mapping confirmed by DO. [SN]. hereditary mucosal leukokeratosis A skin disease characterized by a defect in the normal process of keratinization of the mucosa. url:http://en.wikipedia.org/wiki/White_sponge_nevus url:http://omim.org/entry/193900 MESH:D053549 NCI:C84986 OMIM:167200 OMIM:167210 SNOMEDCT_US_2016_03_01:205600001 SNOMEDCT_US_2016_03_01:39427000 UMLS_CUI:C0265334 UMLS_CUI:C1706595 UMLS_CUI:C1721007 Jackson-Lawler Type Pachyonychia Congenita Jadassohn-Lewandowsky Syndrome PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE Pachyonychia Congenita Type 1 disease_ontology DOID:0050449 OMIM mapping confirmed by DO. [SN]. pachyonychia congenita MESH:D053579 NCI:C84730 OMIM:263800 SNOMEDCT_US_2016_03_01:3188003 SNOMEDCT_US_2016_03_01:707756004 UMLS_CUI:C0268450 HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA disease_ontology DOID:0050450 OMIM mapping confirmed by DO. [SN]. Gitelman syndrome A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. ICD10CM:I49.8 MESH:D053840 NCI:C71059 ORDO:130 SNOMEDCT_US_2016_03_01:418818005 UMLS_CUI:C1142166 UMLS_CUI:C1721096 UMLS_CUI:C1955837 Bangungut Brugada type idiopathic ventricular fibrillation Dream disease Pokkuri death syndrome SUNDS sudden unexplained nocturnal death syndrome disease_ontology DOID:0050451 OMIM mapping confirmed by DO. [SN]. Brugada syndrome A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. url:http://en.wikipedia.org/wiki/Brugada_syndrome Bangungut ORDO:130 Brugada type idiopathic ventricular fibrillation ORDO:130 Dream disease ORDO:130 Pokkuri death syndrome ORDO:130 SUNDS ORDO:130 sudden unexplained nocturnal death syndrome ORDO:130 MESH:D054078 NCI:C84890 OMIM:610377 SNOMEDCT_US_2016_03_01:124327008 SNOMEDCT_US_2016_03_01:234538002 UMLS_CUI:C0342731 UMLS_CUI:C0398691 UMLS_CUI:C1959626 Mevalonate Kinase Deficiency disease_ontology DOID:0050452 OMIM mapping confirmed by DO. [SN]. mevalonic aciduria A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation. ICD10CM:Q04.3 ICD10CM:Q04.8 MESH:D054082 NCI:C103921 OMIM:300067 OMIM:300215 OMIM:607432 OMIM:611603 OMIM:614019 OMIM:615191 ORDO:102009 SNOMEDCT_US_2016_03_01:204036008 SNOMEDCT_US_2016_03_01:23024003 UMLS_CUI:C0266463 UMLS_CUI:C0266483 disease_ontology DOID:0050453 Xref MGI. OMIM mapping confirmed by DO. [SN]. lissencephaly A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation. url:http://en.wikipedia.org/wiki/Lissencephaly url:http://www.ninds.nih.gov/disorders/lissencephaly/lissencephaly.htm A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain. MESH:D054091 OMIM:300049 OMIM:608097 OMIM:608098 OMIM:612881 OMIM:615544 ORDO:98892 SNOMEDCT_US_2016_03_01:448227009 UMLS_CUI:C1848213 UMLS_CUI:C1868720 periventricular heterotopia disease_ontology DOID:0050454 Xref MGI. OMIM mapping confirmed by DO. [SN]. periventricular nodular heterotopia A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain. url:http://ghr.nlm.nih.gov/condition/periventricular-heterotopia disease_ontology DOID:0050455 arachnodactyly true A primary bacterial infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Mycobacterium ulcerans, which could be transmitted_by insects. The bacterium produces a toxin, named mycolactone, which causes subcutaneous fat necrosis and inhibits an immune response. The infection has_symptom nodule, which is a painless, mobile swelling in the skin. ICD10CM:A31.1 MESH:D054312 NCI:C84604 SNOMEDCT_US_2016_03_01:15845006 SNOMEDCT_US_2016_03_01:186343005 UMLS_CUI:C0085568 Bairnsdale ulcer Daintree ulcer Mossman ulcer Searl ulcer Searle's ulcer disease_ontology DOID:0050456 Buruli ulcer disease A primary bacterial infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Mycobacterium ulcerans, which could be transmitted_by insects. The bacterium produces a toxin, named mycolactone, which causes subcutaneous fat necrosis and inhibits an immune response. The infection has_symptom nodule, which is a painless, mobile swelling in the skin. url:http://en.wikipedia.org/wiki/Buruli_ulcer url:http://www.who.int/mediacentre/factsheets/fs199/en/ MESH:D054331 OMIM:305700 OMIM:400042 SNOMEDCT_US_2016_03_01:73465006 UMLS_CUI:C1384583 DEL CASTILLO SYNDROME Germinal Cell Aplasia disease_ontology DOID:0050457 OMIM mapping confirmed by DO. [SN]. Sertoli cell-only syndrome ICD10CM:C93.3 ICD10CM:C93.30 MESH:D054429 NCI:C9233 OMIM:607785 SNOMEDCT_US_2016_03_01:128832006 SNOMEDCT_US_2016_03_01:277587001 SNOMEDCT_US_2016_03_01:445227008 UMLS_CUI:C0349639 disease_ontology DOID:0050458 OMIM mapping confirmed by DO. [SN]. juvenile myelomonocytic leukemia MESH:D054559 NCI:C113750 SNOMEDCT_US_2016_03_01:20165001 UMLS_CUI:C0085681 disease_ontology DOID:0050459 hyperphosphatemia DOID:6684 ICD10CM:Q93.3 MESH:D054877 NCI:C35528 OMIM:194190 SNOMEDCT_US_2016_03_01:17122004 UMLS_CUI:C0796117 UMLS_CUI:C1956097 4p deletion syndrome PITT SYNDROME Pitt-Rogers-Danks Syndrome chromosome 4p16.3 deletion syndrome disease_ontology DOID:0050460 OMIM mapping confirmed by DO. [LS]. Wolf-Hirschhorn syndrome ICD10CM:E77.1 MESH:D054880 NCI:C61273 OMIM:208400 SNOMEDCT_US_2016_03_01:54954004 UMLS_CUI:C0268225 ASPARTYLGLUCOSAMINIDASE DEFICIENCY GLYCOSYLASPARAGINASE DEFICIENCY aspartylglycosaminuria disease_ontology DOID:0050461 OMIM mapping confirmed by DO. [SN]. aspartylglucosaminuria An autosomal recessive disease that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene. MESH:D054882 OMIM:201750 OMIM:207410 SNOMEDCT_US_2016_03_01:62964007 UMLS_CUI:C1860042 UMLS_CUI:C2350233 UMLS_CUI:C2936791 trapezoidocephaly-synostosis syndrome disease_ontology DOID:0050462 OMIM mapping confirmed by DO. [SN]. Antley-Bixler syndrome An autosomal recessive disease that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene. url:http://en.wikipedia.org/wiki/Antley-Bixler_syndrome An osteochondrodysplasia that has_material_basis_in a mutation in chromosome 17 which results_in bowing in the located_in tibia or located_in femur. MESH:D055036 NCI:C120205 NCI:C84609 OMIM:114290 SNOMEDCT_US_2016_03_01:74928006 UMLS_CUI:C1861922 UMLS_CUI:C1861923 Acampomelic Campomelic Dysplasia disease_ontology DOID:0050463 OMIM mapping confirmed by DO. [SN]. campomelic dysplasia An osteochondrodysplasia that has_material_basis_in a mutation in chromosome 17 which results_in bowing in the located_in tibia or located_in femur. url:http://en.wikipedia.org/wiki/Campomelic_dysplasia url:http://ghr.nlm.nih.gov/condition/campomelic-dysplasia url:http://www.healthline.com/galecontent/campomelic-dysplasia-1 MESH:D055577 NCI:C84710 OMIM:228000 SNOMEDCT_US_2016_03_01:79935000 UMLS_CUI:C0268255 Acid Ceramidase Deficiency Farber Disease N-LAURYLSPHINGOSINE DEACYLASE DEFICIENCY disease_ontology DOID:0050464 OMIM mapping confirmed by DO. [SN]. Farber lipogranulomatosis MESH:D055653 NCI:C84905 OMIM:158320 SNOMEDCT_US_2016_03_01:403824007 UMLS_CUI:C1321489 disease_ontology DOID:0050465 OMIM mapping confirmed by DO. [SN]. Muir-Torre syndrome MESH:D055947 NCI:C75006 OMIM:609192 OMIM:610168 OMIM:613795 OMIM:614816 ORDO:60030 SNOMEDCT_US_2016_03_01:446263001 UMLS_CUI:C1836635 UMLS_CUI:C2697932 disease_ontology DOID:0050466 Xref MGI. OMIM mapping confirmed by DO. [SN]. Loeys-Dietz syndrome MESH:D056266 NCI:C84696 OMIM:133200 SNOMEDCT_US_2016_03_01:254184006 SNOMEDCT_US_2016_03_01:70041004 UMLS_CUI:C0265961 UMLS_CUI:C1851480 Erythrokeratodermia Figurata Variabilis Greither Disease disease_ontology DOID:0050467 OMIM mapping confirmed by DO. [SN]. erythrokeratodermia variabilis A syndrome that is characterized by an accumulation of protein-rich fluid (lymph) in the soft layers of tissue under the skin resulting in pleural effusions, lymphedema (due to lymphatic hypoplasia) and yellow dystrophic nails hat lack a cuticle, grow slowly, and are loose or detached. ICD10CM:L60.5 MESH:D056684 NCI:C85238 OMIM:153300 SNOMEDCT_US_2016_03_01:400211001 SNOMEDCT_US_2016_03_01:45342007 UMLS_CUI:C0221348 disease_ontology DOID:0050468 OMIM mapping confirmed by DO. [SN]. yellow nail syndrome A syndrome that is characterized by an accumulation of protein-rich fluid (lymph) in the soft layers of tissue under the skin resulting in pleural effusions, lymphedema (due to lymphatic hypoplasia) and yellow dystrophic nails hat lack a cuticle, grow slowly, and are loose or detached. url:http://rarediseases.info.nih.gov/gard/184/yellow-nail-syndrome/resources/1 url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/834/viewAbstract A syndrome characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays. MESH:D056685 NCI:C84652 OMIM:218040 SNOMEDCT_US_2016_03_01:205803001 SNOMEDCT_US_2016_03_01:309776008 UMLS_CUI:C0587248 FCS SYNDROME Faciocutaneoskeletal Syndrome disease_ontology DOID:0050469 OMIM mapping confirmed by DO. [SN]. Costello syndrome A syndrome characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=17250658 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=907573 MESH:D056731 NCI:C84676 OMIM:246200 SNOMEDCT_US_2016_03_01:111307005 SNOMEDCT_US_2016_03_01:33559001 UMLS_CUI:C0265344 UMLS_CUI:C0271695 Leprechaunism disease_ontology DOID:0050470 OMIM mapping confirmed by DO. [SN]. Donohue syndrome An autosomal dominant disease characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity. MESH:D056733 NCI:C4705 OMIM:160980 OMIM:605244 OMIM:608837 ORDO:1359 SNOMEDCT_US_2016_03_01:239132009 UMLS_CUI:C0406810 UMLS_CUI:C1854540 UMLS_CUI:C2607929 Carney Complex, Type 1 Carney Complex, Type 2 Carney Syndrome Carney complex variant LAMB Syndrome NAME Syndrome disease_ontology DOID:0050471 Xref MGI. OMIM mapping confirmed by DO. [SN]. Carney complex An autosomal dominant disease characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity. url:http://en.wikipedia.org/wiki/Carney_complex url:http://ghr.nlm.nih.gov/condition/carney-complex ICD10CM:Q84.1 MESH:D056734 NCI:C84894 OMIM:158000 SNOMEDCT_US_2016_03_01:205596006 SNOMEDCT_US_2016_03_01:276482004 SNOMEDCT_US_2016_03_01:69488000 UMLS_CUI:C0546966 disease_ontology DOID:0050472 OMIM mapping confirmed by DO. [SN]. monilethrix An autosomal recessive disease that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene. MESH:D056769 NCI:C84549 OMIM:203800 SNOMEDCT_US_2016_03_01:63702009 UMLS_CUI:C0268425 disease_ontology DOID:0050473 OMIM mapping confirmed by DO. [SN]. Alstrom syndrome An autosomal recessive disease that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene. url:http://en.wikipedia.org/wiki/Alstrom_syndrome MESH:D056770 NCI:C84922 OMIM:256500 SNOMEDCT_US_2016_03_01:205555008 SNOMEDCT_US_2016_03_01:239058007 SNOMEDCT_US_2016_03_01:254127001 SNOMEDCT_US_2016_03_01:312514006 SNOMEDCT_US_2016_03_01:34638006 SNOMEDCT_US_2016_03_01:54336006 UMLS_CUI:C0265962 disease_ontology DOID:0050474 OMIM mapping confirmed by DO. [SN]. Netherton syndrome An autosomal genetic disease characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities. MESH:D056846 NCI:C85226 OMIM:277600 OMIM:608328 OMIM:613195 OMIM:614819 ORDO:3449 SNOMEDCT_US_2016_03_01:205801004 SNOMEDCT_US_2016_03_01:2884008 UMLS_CUI:C0265313 UMLS_CUI:C1869114 UMLS_CUI:C1869115 GEMSS syndrome Marchesani-Weill Syndrome Mesodermal Dysmorphodystrophy, Congenital Spherophakia Brachymorphia Syndrome congenital mesodermal dystrophy disease_ontology DOID:0050475 Xref MGI. OMIM mapping confirmed by DO. [LS]. Weill-Marchesani syndrome An autosomal genetic disease characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities. url:http://en.wikipedia.org/wiki/Weill-Marchesani_syndrome url:http://ghr.nlm.nih.gov/condition/weill-marchesani-syndrome A lipid metabolism disorder that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin. ICD10CM:E78.71 MESH:D056889 NCI:C84585 OMIM:302060 SNOMEDCT_US_2016_03_01:297231002 UMLS_CUI:C0574083 3-methylglutaconicaciduria type 2 3-methylglutaconicaciduria type II MGA Type 2 MGA type II disease_ontology DOID:0050476 OMIM mapping confirmed by DO. [SN]. Barth syndrome A lipid metabolism disorder that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin. url:http://en.wikipedia.org/wiki/Barth_syndrome url:http://rarediseases.info.nih.gov/gard/5890/barth-syndrome/resources/1 url:http://www.ninds.nih.gov/disorders/barth/barth.htm url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1116/viewAbstract MESH:D056929 NCI:C84827 OMIM:177200 SNOMEDCT_US_2016_03_01:190901004 SNOMEDCT_US_2016_03_01:237493003 SNOMEDCT_US_2016_03_01:707749005 SNOMEDCT_US_2016_03_01:71275003 UMLS_CUI:C0221043 Liddle's syndrome Pseudoaldosteronism disease_ontology DOID:0050477 OMIM mapping confirmed by DO. [SN]. Liddle syndrome disease_ontology DOID:0050478 primary Escherichia coli infectious disease true Klebsiella infection disease_ontology DOID:0050479 commensal Klebsiella infectious disease true Klebsiella infection CSP2005:0368-2705 A typhus that has_material_basis_in Rickettsia prowazekii, which is transmitted_by human body louse (Pediculus humanus corporis). The infection has_symptom high fever, has_symptom cough, has_symptom rash, has_symptom severe muscle pain, has_symptom chills, has_symptom falling blood pressure, has_symptom stupor, has_symptom sensitivity to light, and has_symptom delirium. sylvatic typhus disease_ontology DOID:0050480 epidemic typhus A typhus that has_material_basis_in Rickettsia prowazekii, which is transmitted_by human body louse (Pediculus humanus corporis). The infection has_symptom high fever, has_symptom cough, has_symptom rash, has_symptom severe muscle pain, has_symptom chills, has_symptom falling blood pressure, has_symptom stupor, has_symptom sensitivity to light, and has_symptom delirium. url:http://en.wikipedia.org/wiki/Epidemic_typhus A typhus that has_material_basis_in Rickettsia typhi or has_material_basis_in Rickettsia felis, which are transmitted_by fleas (Xenopsylla cheopis). The infection has_symptom headache, has_symptom fever, has_symptom chills, has_symptom myalgia, has_symptom nausea, has_symptom vomiting, has_symptom cough and has_symptom rash. DOID:0050028 DOID:0050029 DOID:0050030 DOID:0050057 DOID:0050058 Rat-Flea Typhus Rickettsia felis spotted fever Urban Typhus of Malaya cat flea rickettsiosis fleaborne typhus murine typhus toulon typhus urban typhus disease_ontology Shop typhus DOID:0050481 endemic typhus A typhus that has_material_basis_in Rickettsia typhi or has_material_basis_in Rickettsia felis, which are transmitted_by fleas (Xenopsylla cheopis). The infection has_symptom headache, has_symptom fever, has_symptom chills, has_symptom myalgia, has_symptom nausea, has_symptom vomiting, has_symptom cough and has_symptom rash. url:http://en.wikipedia.org/wiki/Murine_typhus disease_ontology DOID:0050482 lymphangitis-associated rickettsiosis true disease_ontology DOID:0050483 Rickettsia aeschlimannii spotted fever true A spotted fever that has_material_basis_in Rickettsia helvetica, which is transmitted_by ticks (Ixodes sp). The infection has_symptom fever, has_symptom headache, has_symptom myalgia. Rickettsia helvetica spotted fever disease_ontology DOID:0050484 aneruptive fever A spotted fever that has_material_basis_in Rickettsia helvetica, which is transmitted_by ticks (Ixodes sp). The infection has_symptom fever, has_symptom headache, has_symptom myalgia. url:http://jcm.asm.org/cgi/reprint/42/2/816 url:http://www.cdc.gov/otherspottedfever/index.html A primary bacterial infectious disease that results_in infection, has_material_basis_in Neorickettsia sennetsu, which is transmitted_by ingestion of raw or under-cooked gray mullet fish infected with the trematodes. The infection has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom fatigue, has_symptom chills, has_symptom headache, has_symptom backache and has_symptom myalgia. Sennetsu ehrlichiosis disease_ontology DOID:0050485 sennetsu fever A primary bacterial infectious disease that results_in infection, has_material_basis_in Neorickettsia sennetsu, which is transmitted_by ingestion of raw or under-cooked gray mullet fish infected with the trematodes. The infection has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom fatigue, has_symptom chills, has_symptom headache, has_symptom backache and has_symptom myalgia. url:http://www.ebi.ac.uk/2can/genomes/bacteria/Neorickettsia_sennetsu.html ICD10CM:R21 ICD9CM:782.1 MESH:D005076 NCI:C111884 NCI:C39594 SNOMEDCT_US_2016_03_01:112625008 SNOMEDCT_US_2016_03_01:139684003 SNOMEDCT_US_2016_03_01:158230006 SNOMEDCT_US_2016_03_01:158231005 SNOMEDCT_US_2016_03_01:158234002 SNOMEDCT_US_2016_03_01:1806006 SNOMEDCT_US_2016_03_01:206860008 SNOMEDCT_US_2016_03_01:206861007 SNOMEDCT_US_2016_03_01:206864004 SNOMEDCT_US_2016_03_01:267183006 SNOMEDCT_US_2016_03_01:271807003 UMLS_CUI:C0015230 Rash exanthema disease_ontology DOID:0050486 exanthem disease_ontology DOID:0050487 bacterial exanthem A congenital syphilis that is manifested during the first 3 months of life. The infection has_symptom skin lesions, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom failure to thrive, has_symptom blood-stained nasal discharge, has_symptom perioral fissures, has_symptom meningitis, has_symptom choroiditis, has_symptom hydrocephalus, has_symptom seizures, has_symptom intellectual disability, has_symptom osteochondritis, and has_symptom pseudoparalysis. disease_ontology DOID:0050488 early congenital syphilis A congenital syphilis that is manifested during the first 3 months of life. The infection has_symptom skin lesions, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom failure to thrive, has_symptom blood-stained nasal discharge, has_symptom perioral fissures, has_symptom meningitis, has_symptom choroiditis, has_symptom hydrocephalus, has_symptom seizures, has_symptom intellectual disability, has_symptom osteochondritis, and has_symptom pseudoparalysis. url:http://www.merckmanuals.com/professional/sec19/ch279/ch279d.html A goiter characterized by a multinodular enlargement of the thyroid gland. OMIM:138800 OMIM:300273 OMIM:606082 ORDO:276399 disease_ontology DOID:0050489 Xref MGI. OMIM mapping confirmed by DO. [SN]. multinodular goiter A goiter characterized by a multinodular enlargement of the thyroid gland. url:http://en.wikipedia.org/wiki/Multinodular_goitre A tertiary neurosyphilis that results when chronic meningoencephalitis causes destruction of cortical parenchyma. The infection has_symptom irritability, has_symptom difficulty concentrating, has_symptom deterioration of memory, has_symptom defective judgment, has_symptom headaches, has_symptom insomnia, has_symptom fatigue, and has_symptom lethargy. disease_ontology DOID:0050490 parenchymatous neurosyphilis A tertiary neurosyphilis that results when chronic meningoencephalitis causes destruction of cortical parenchyma. The infection has_symptom irritability, has_symptom difficulty concentrating, has_symptom deterioration of memory, has_symptom defective judgment, has_symptom headaches, has_symptom insomnia, has_symptom fatigue, and has_symptom lethargy. url:http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh A tertiary neurosyphilis that results_in inflammation located_in arteries of the brain or located_in arteries of spinal cord. The infection has_symptom headache, has_symptom neck stiffness, has_symptom dizziness, has_symptom behavioral abnormalities, has_symptom poor concentration, has_symptom memory loss, has_symptom lassitude, has_symptom insomnia, has_symptom blurred vision, has_symptom weakness and wasting of shoulder-girdle and arm muscles, has_symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has_symptom paralysis of the legs due to thrombosis of spinal arteries. disease_ontology DOID:0050491 meningovascular neurosyphilis A tertiary neurosyphilis that results_in inflammation located_in arteries of the brain or located_in arteries of spinal cord. The infection has_symptom headache, has_symptom neck stiffness, has_symptom dizziness, has_symptom behavioral abnormalities, has_symptom poor concentration, has_symptom memory loss, has_symptom lassitude, has_symptom insomnia, has_symptom blurred vision, has_symptom weakness and wasting of shoulder-girdle and arm muscles, has_symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has_symptom paralysis of the legs due to thrombosis of spinal arteries. url:http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh disease_ontology DOID:0050492 tertiary syphilitic encephalitis true disease_ontology DOID:0050493 tertiary syphilitic meningitis true A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Papillomaviridae viruses. disease_ontology DOID:0050494 Papillomaviridae infectious disease true A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Papillomaviridae viruses. url:http://en.wikipedia.org/wiki/Papillomaviridae A viral infectious disease that results_in infection in infants and children, located_in skin, has_material_basis_in Human herpesvirus 6 or has_material_basis_in Human herpesvirus 7 and has_symptom sudden high fever, and has_symptom red rash that occurs first on the trunk then spreading to legs and neck. ICD10CM:B08.2 ICD10CM:B08.20 ICD9CM:058.1 ICD9CM:058.10 MESH:D005077 SNOMEDCT_US_2016_03_01:154343004 SNOMEDCT_US_2016_03_01:154344005 SNOMEDCT_US_2016_03_01:240559001 SNOMEDCT_US_2016_03_01:266192003 SNOMEDCT_US_2016_03_01:266193008 SNOMEDCT_US_2016_03_01:402902002 SNOMEDCT_US_2016_03_01:54385001 UMLS_CUI:C0015231 Roseola Infantum Sixth Disease disease_ontology DOID:0050495 exanthema subitum A viral infectious disease that results_in infection in infants and children, located_in skin, has_material_basis_in Human herpesvirus 6 or has_material_basis_in Human herpesvirus 7 and has_symptom sudden high fever, and has_symptom red rash that occurs first on the trunk then spreading to legs and neck. url:http://en.wikipedia.org/wiki/Exanthema_subitum A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Banna virus, which is transmitted_by Culex, and transmitted_by Anopheles mosquitoes. The infection has_symptom fever, and has_symptom headache. disease_ontology DOID:0050496 Banna virus encephalitis true A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Banna virus, which is transmitted_by Culex, and transmitted_by Anopheles mosquitoes. The infection has_symptom fever, and has_symptom headache. url:http://vir.sgmjournals.org/cgi/reprint/86/4/1147 url:http://www.cdc.gov/EID/content/14/8/1276.htm A ssDNA virus infectious disease that results_in infection in humans, has_material_basis_in Anelloviridae viruses. disease_ontology DOID:0050497 Anelloviridae infectious disease true A ssDNA virus infectious disease that results_in infection in humans, has_material_basis_in Anelloviridae viruses. url:http://en.wikipedia.org/wiki/Anelloviridae A DNA virus infectious disease that results_in infection, has_material_basis_in dsDNA viruses, which possess double-stranded DNA. double stranded DNA virus infectious disease dsDNA virus infection disease_ontology DOID:0050498 dsDNA virus infectious disease true A DNA virus infectious disease that results_in infection, has_material_basis_in dsDNA viruses, which possess double-stranded DNA. url:http://en.wikipedia.org/wiki/Viral_classification A DNA virus infectious disease that results_in infection, has_material_basis_in ssDNA viruses, which possess single-stranded DNA. single stranded DNA virus infectious disease ssDNA virus infection disease_ontology DOID:0050499 ssDNA virus infectious disease true A DNA virus infectious disease that results_in infection, has_material_basis_in ssDNA viruses, which possess single-stranded DNA. url:http://en.wikipedia.org/wiki/Viral_classification A DNA virus infectious disease that results_in infection, has_material_basis_in dsDNA retro-transcribing viruses, which possess double-stranded DNA genomes and replicate using reverse transcriptase. double stranded DNA reverse transcribing virus infectious disease double stranded DNA-reverse transcribing virus infection dsDNA-RT virus infection disease_ontology DOID:0050500 dsDNA-RT virus infectious disease true A DNA virus infectious disease that results_in infection, has_material_basis_in dsDNA retro-transcribing viruses, which possess double-stranded DNA genomes and replicate using reverse transcriptase. url:http://en.wikipedia.org/wiki/Viral_classification A RNA virus infectious disease that results_in infection, has_material_basis_in dsRNA viruses, which possess double-stranded RNA genomes. double stranded RNA virus infectious disease dsRNA virus infection disease_ontology DOID:0050501 dsRNA virus infectious disease true A RNA virus infectious disease that results_in infection, has_material_basis_in dsRNA viruses, which possess double-stranded RNA genomes. url:http://en.wikipedia.org/wiki/Viral_classification A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA positive-strand viruses, no DNA stage, which possess positive-sense single-stranded RNA genomes. (+)ssRNA virus infection Positive Stranded ssRNA Virus infectious disease positive-sense single stranded RNA virus infectious disease positive-sense ssRNA virus infection positive-sense ssRNA virus infectious disease disease_ontology DOID:0050502 (+)ssRNA virus infectious disease true A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA positive-strand viruses, no DNA stage, which possess positive-sense single-stranded RNA genomes. url:http://en.wikipedia.org/wiki/Viral_classification A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA negative-strand viruses, which have negative-sense single-stranded RNA genomes. (-)ssRNA virus infection Negative Stranded ssRNA Virus infectious disease negative-sense single stranded RNA virus infectious disease negative-sense ssRNA virus infection negative-sense ssRNA virus infectious disease disease_ontology DOID:0050503 (-)ssRNA virus infectious disease true A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA negative-strand viruses, which have negative-sense single-stranded RNA genomes. url:http://en.wikipedia.org/wiki/Viral_classification A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA retro-transcribing viruses, which possess single-stranded RNA genomes and replicate using reverse transcriptase. single stranded RNA reverse transcribing virus infectious disease ssRNA-RT virus infection disease_ontology DOID:0050504 ssRNA-RT virus infectious disease true A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA retro-transcribing viruses, which possess single-stranded RNA genomes and replicate using reverse transcriptase. url:http://en.wikipedia.org/wiki/Viral_classification A human papillomavirus related squamous cell carcinoma that results_in infection located_in anus, has_material_basis_in human papillomavirus (types 16 or 18), which cause malignant tumors in squamous epithelium of anus. disease_ontology DOID:0050505 human papilloma virus related anal squamous cell carcinoma true A human papillomavirus related squamous cell carcinoma that results_in infection located_in anus, has_material_basis_in human papillomavirus (types 16 or 18), which cause malignant tumors in squamous epithelium of anus. url:http://www.infectagentscancer.com/content/5/1/17 A human papillomavirus related squamous cell carcinoma that results_in infection located_in vagina, has_material_basis_in human papillomavirus (type16), which cause malignant tumors in squamous epithelium of the vagina. disease_ontology DOID:0050506 human papilloma virus related vaginal squamous cell carcinoma true A human papillomavirus related squamous cell carcinoma that results_in infection located_in vagina, has_material_basis_in human papillomavirus (type16), which cause malignant tumors in squamous epithelium of the vagina. url:http://emedicine.medscape.com/article/219110-overview url:http://emedicine.medscape.com/article/269188-overview disease_ontology DOID:0050507 AIDS-related cryptosporidiosis true A smallpox that results_in severe infection, located_in skin, has_material_basis_in Variola virus. The infection results_in_formation_of lesions. ICD9CM:050.0 SNOMEDCT_US_2016_03_01:154344005 SNOMEDCT_US_2016_03_01:266193008 SNOMEDCT_US_2016_03_01:47452006 UMLS_CUI:C1812609 disease_ontology DOID:0050508 variola major A smallpox that results_in severe infection, located_in skin, has_material_basis_in Variola virus. The infection results_in_formation_of lesions. url:http://www.who.int/mediacentre/factsheets/smallpox/en/ disease_ontology DOID:0050509 AIDS-related toxoplasmosis true AIDS-related isosporiasis disease_ontology DOID:0050510 AIDS-related cystoisosporiasis true A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Human torovirus, which is transmitted_by ingestion of food contaminated with feces. The infection has_symptom bloody diarrhea. disease_ontology DOID:0050511 Human torovirus gastroenteritis true A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Human torovirus, which is transmitted_by ingestion of food contaminated with feces. The infection has_symptom bloody diarrhea. url:http://www.jstor.org/stable/30117350 A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Saffold virus, which is transmitted_by ingestion of food contaminated with feces. The infection has_symptom watery diarrhea, has_symptom fever, has_symptom nausea, and has_symptom vomiting. disease_ontology DOID:0050512 Saffold virus gastroenteritis true A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Saffold virus, which is transmitted_by ingestion of food contaminated with feces. The infection has_symptom watery diarrhea, has_symptom fever, has_symptom nausea, and has_symptom vomiting. url:http://jvi.asm.org/cgi/content/full/83/9/4631 url:http://www.cdc.gov/EID/content/15/9/1509.htm A paralytic poliomyelitis that results_in destruction located_in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom difficulty breathing, and has_symptom paralysis of arms and legs. disease_ontology DOID:0050513 spinal polio A paralytic poliomyelitis that results_in destruction located_in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom difficulty breathing, and has_symptom paralysis of arms and legs. url:http://en.wikipedia.org/wiki/Poliomyelitis A paralytic poliomyelitis that results_in destruction located_in motor neurons of brainstem or located_in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom difficulty breathing, has_symptom difficulty swallowing, and has_symptom paralysis of arms and legs. disease_ontology DOID:0050514 bulbospinal polio A paralytic poliomyelitis that results_in destruction located_in motor neurons of brainstem or located_in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom difficulty breathing, has_symptom difficulty swallowing, and has_symptom paralysis of arms and legs. url:http://www.mayoclinic.com/health/polio/DS00572/DSECTION=symptoms A poliomyelitis that results_in destruction located_in motor neurons of central nervous system, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom loss of reflexes, has_symptom muscle spasms, and has_symptom acute flaccid paralysis. disease_ontology DOID:0050515 paralytic poliomyelitis A poliomyelitis that results_in destruction located_in motor neurons of central nervous system, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom loss of reflexes, has_symptom muscle spasms, and has_symptom acute flaccid paralysis. url:http://www.brown.edu/Courses/Bio_160/Projects2000/Polio/Neuropathology.html url:http://www.mayoclinic.com/health/polio/DS00572/DSECTION=symptoms A viral infectious disease that results_in infection located_in joint, has_material_basis_in O'nyong-nyong virus, which is transmitted_by Anopheles gambiae, and transmitted_by Anopheles funestus mosquitoes. The infection has_symptom fever, has_symptom arthralgia, has_symptom rash, and has_symptom lymphadenitis. disease_ontology DOID:0050516 O'nyong'nyong fever A viral infectious disease that results_in infection located_in joint, has_material_basis_in O'nyong-nyong virus, which is transmitted_by Anopheles gambiae, and transmitted_by Anopheles funestus mosquitoes. The infection has_symptom fever, has_symptom arthralgia, has_symptom rash, and has_symptom lymphadenitis. url:http://books.google.com/books?id=VS5bqBQ9RWoC&pg=PA21&lpg#v=onepage&q&f=false A viral infectious disease that results_in infection located_in joint, has_material_basis_in Barmah Forest virus, which is transmitted_by mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash. disease_ontology DOID:0050517 Barmah Forest virus disease A viral infectious disease that results_in infection located_in joint, has_material_basis_in Barmah Forest virus, which is transmitted_by mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash. url:http://health.vic.gov.au/ideas/bluebook/barmah_forest A viral infectious disease that results_in infection located_in joint, has_material_basis_in Ross River virus, which is transmitted_by Culex, and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash. Ross River virus disease disease_ontology DOID:0050518 Ross River fever A viral infectious disease that results_in infection located_in joint, has_material_basis_in Ross River virus, which is transmitted_by Culex, and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash. url:http://en.wikipedia.org/wiki/Ross_River_fever A lymphocytic choriomeningitis that results_in inflammation located_in meninges, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom fever, has_symptom headache, and has_symptom stiff neck. disease_ontology DOID:0050519 Lymphocytic choriomeningitis virus meningitis true A lymphocytic choriomeningitis that results_in inflammation located_in meninges, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom fever, has_symptom headache, and has_symptom stiff neck. url:http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/lcmv/qa.htm A lymphocytic choriomeningitis that results_in inflammation located_in meninges and located_in brain, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom fever, has_symptom headache, has_symptom stiff neck, has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis. disease_ontology DOID:0050520 Lymphocytic choriomeningitis virus meningoencephalitis true A lymphocytic choriomeningitis that results_in inflammation located_in meninges and located_in brain, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom fever, has_symptom headache, has_symptom stiff neck, has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis. url:http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/lcmv/qa.htm A viral infectious disease that results_in infection, has_material_basis_in Oropouche virus, which is transmitted_by biting midge, Culicoides paraensis. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom anorexia, has_symptom muscle pain, has_symptom joint pain, and has_symptom vomiting. disease_ontology DOID:0050521 Oropouche fever A viral infectious disease that results_in infection, has_material_basis_in Oropouche virus, which is transmitted_by biting midge, Culicoides paraensis. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom anorexia, has_symptom muscle pain, has_symptom joint pain, and has_symptom vomiting. url:http://en.wikipedia.org/wiki/Oropouche_fever url:http://www.cdc.gov/EID/content/13/6/912.htm A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Dobrava-Belgrade virus , which is transmitted_by yellow-necked field mouse, Apodemus flavicollis. The infection has_symptom headache, has_symptom fever, has_symptom muscle pains, has_symptom facial flush, has_symptom petechiae, has_symptom hemorrhagic features, has_symptom proteinuria, and has_symptom renal failure. disease_ontology DOID:0050522 Balkan hemorrhagic fever A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Dobrava-Belgrade virus , which is transmitted_by yellow-necked field mouse, Apodemus flavicollis. The infection has_symptom headache, has_symptom fever, has_symptom muscle pains, has_symptom facial flush, has_symptom petechiae, has_symptom hemorrhagic features, has_symptom proteinuria, and has_symptom renal failure. url:http://emedicine.medscape.com/article/982142-overview A T-cell leukemia that results_in abnormal increase of lymphocytes, derives_from T-cells, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The infection results_in_formation_of skin lesions. ICD10CM:C91.5 ICD10CM:C91.50 MESH:D015459 NCI:C3184 SNOMEDCT_US_2016_03_01:110007008 SNOMEDCT_US_2016_03_01:188729005 SNOMEDCT_US_2016_03_01:77430005 UMLS_CUI:C0023493 Adult T-cell leukemia/lymphoma disease_ontology DOID:0050523 adult T-cell leukemia A T-cell leukemia that results_in abnormal increase of lymphocytes, derives_from T-cells, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The infection results_in_formation_of skin lesions. url:http://en.wikipedia.org/wiki/Adult_T-cell_leukemia/lymphoma url:http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C3184 A genetic disease that has_material_basis_in mutations in the MODY genes disrupting insulin production. ICD10CM:E11.8 KEGG:04950 OMIM:606391 ORDO:552 MODY Mason-type diabetes disease_ontology DOID:0050524 Xref MGI. OMIM mapping confirmed by DO. [SN]. maturity-onset diabetes of the young A genetic disease that has_material_basis_in mutations in the MODY genes disrupting insulin production. url:http://en.wikipedia.org/wiki/Maturity_onset_diabetes_of_the_young acro-osteolysis disease_ontology Acroosteolysis syndrome DOID:0050525 OMIM mapping confirmed by DO. [SN]. acroosteolysis true Acroosteolysis syndrome SNOMEDCT_2005_07_31:27201004 A syndrome characterized by progressive weakness and atrophy of muscles in feet, legs and hands. In some patients the syndrome also causes decreased sensitivity to touch, heat or cold, particularly in the lower arms or legs. OMIM:137200 autosomal recessive neuromyotonia and axonal neuropathy myokymia, myotonia and muscle wasting disease_ontology DOID:0050526 OMIM mapping confirmed by DO. [SN]. Gamstorp-Wohlfart syndrome A syndrome characterized by progressive weakness and atrophy of muscles in feet, legs and hands. In some patients the syndrome also causes decreased sensitivity to touch, heat or cold, particularly in the lower arms or legs. url:http://ghr.nlm.nih.gov/condition/autosomal-recessive-axonal-neuropathy-with-neuromyotonia familial hypertriglyceridemia true OMIM:234050 AMISH BRITTLE HAIR BRAIN SYNDROME BIDS SYNDROME HAIR-BRAIN SYNDROME disease_ontology DOID:0050528 OMIM mapping confirmed by DO. [SN]. nonphotosensitive trichothiodystrophy OMIM:271150 SPINAL MUSCULAR ATROPHY, ADULT FORM SPINAL MUSCULAR ATROPHY, TYPE IV disease_ontology DOID:0050529 OMIM mapping confirmed by DO. [SN]. adult spinal muscular atrophy OMIM:253550 MUSCULAR ATROPHY, SPINAL, INFANTILE CHRONIC FORM MUSCULAR ATROPHY, SPINAL, INTERMEDIATE TYPE disease_ontology DOID:0050530 OMIM mapping confirmed by DO. [SN]. intermediate spinal muscular atrophy LENTIGINOSIS, DIFFUSE LENTIGINOSIS, GENERALIZED LENTIGINOSIS, INHERITED PATTERNED disease_ontology DOID:0050531 OMIM mapping confirmed by DO. [SN]. lentiginosis profusa true NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC PIGMENTED MOLES disease_ontology DOID:0050532 OMIM mapping confirmed by DO. [SN]. epidermal nevus true IRRITABLE HEART MITRAL VALVE PROLAPSE SYNDROME NEUROCIRCULATORY ASTHENIA ORTHOSTATIC INTOLERANCE disease_ontology DOID:0050533 OMIM mapping confirmed by DO. [SN]. soldiers heart true A night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves. ICD10CM:H53.63 ICD9CM:368.61 MESH:C537743 OMIM:PS310500 ORDO:215 SNOMEDCT_US_2016_03_01:193687000 SNOMEDCT_US_2016_03_01:193688005 SNOMEDCT_US_2016_03_01:193689002 SNOMEDCT_US_2016_03_01:89208008 UMLS_CUI:C1306122 congenital essential nyctalopia disease_ontology DOID:0050534 Xref MGI. OMIM mapping confirmed by DO. [SN]. congenital stationary night blindness A night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves. url:http://disorders.eyes.arizona.edu/disorders/night-blindness-congenital-stationary-csnbad3 url:http://www.ncbi.nlm.nih.gov/books/NBK1245/ url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1772254/ url:http://www.omim.org/entry/610444 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=215 A retinal vascular disease characterized by the prevention of blood vessel formation at the edges of the retina and the hemorrhage of the blood vessels in the retina. ICD10CM:H35.00 ICD9CM:362.10 OMIM:133780 OMIM:305390 OMIM:601813 OMIM:605750 OMIM:613310 ORDO:891 SNOMEDCT_US_2016_03_01:193355009 SNOMEDCT_US_2016_03_01:31411005 SNOMEDCT_US_2016_03_01:42873008 UMLS_CUI:C0004608 FEVR familial exudative vitreoretinopathy disease_ontology DOID:0050535 Xref MGI. OMIM mapping confirmed by DO. [SN]. exudative vitreoretinopathy A retinal vascular disease characterized by the prevention of blood vessel formation at the edges of the retina and the hemorrhage of the blood vessels in the retina. url:http://en.wikipedia.org/wiki/Familial_exudative_vitreoretinopathy url:http://ghr.nlm.nih.gov/condition/familial-exudative-vitreoretinopathy OMIM:269000 Hypomelia Hypotrichosis Facial hemangioma syndrome SC PSEUDOTHALIDOMIDE SYNDROME disease_ontology DOID:0050536 OMIM mapping confirmed by DO. [SN]. SC phocomelia syndrome CATARACT, POSTERIOR POLAR disease_ontology DOID:0050537 OMIM mapping confirmed by DO. [SN]. posterior polar cataract A Charcot-Marie-Tooth disease characterized by demyelination of the peripheral nerve axons. hereditary motor and sensory neuropathy type 1 disease_ontology DOID:0050538 OMIM mapping confirmed by DO. [SN]. Charcot-Marie-Tooth disease type 1 A Charcot-Marie-Tooth disease characterized by demyelination of the peripheral nerve axons. url:http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell. ICD9CM:356.0 OMIM:118230 OMIM:604484 ORDO:64746 SNOMEDCT_US_2016_03_01:128202008 SNOMEDCT_US_2016_03_01:193158000 SNOMEDCT_US_2016_03_01:193159008 SNOMEDCT_US_2016_03_01:65017003 UMLS_CUI:C0392553 hereditary motor and sensory neuropathy Guadalajara neuronal type hereditary motor and sensory neuropathy Okinawa type hereditary motor and sensory neuropathy type 2 disease_ontology DOID:0050539 Xref MGI. OMIM mapping confirmed by DO. [SN]. Charcot-Marie-Tooth disease type 2 A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell. url:http://www.ncbi.nlm.nih.gov/pubmed/25098539 url:http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm OMIM:145900 DEJERINE-SOTTAS NEUROPATHY DEJERINE-SOTTAS SYNDROME disease_ontology DOID:0050540 OMIM mapping confirmed by DO. [SN]. Charcot-Marie-Tooth disease type 3 A Charcot-Marie-Tooth disease characterized by demyelinating or axonal abnormalities that has_material_basis_in autosomal recessive inheritance. DOID:0050582 ORDO:64749 hereditary motor and sensory neuropathy disease_ontology DOID:0050541 Xref MGI. OMIM mapping confirmed by DO. [SN]. Charcot-Marie-Tooth disease type 4 A Charcot-Marie-Tooth disease characterized by demyelinating or axonal abnormalities that has_material_basis_in autosomal recessive inheritance. url:http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm A Charcot-Marie-Tooth disease that has_material_basis_in X-linked inheritance of a point mutation in the connexin-32 gene. ORDO:64747 COWCK Cowchock syndrome disease_ontology DOID:0050542 Xref MGI. OMIM mapping confirmed by DO. [SN]. Charcot-Marie-Tooth disease type X A Charcot-Marie-Tooth disease that has_material_basis_in X-linked inheritance of a point mutation in the connexin-32 gene. url:http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm A Charcot-Marie-Tooth disease characterized by motor conduction velocities above and below 38 m/s. Charcot-Marie-Tooth disease dominant intermediate Charcot-Marie-Tooth disease recessive intermediate disease_ontology DOID:0050543 Xref MGI. OMIM mapping confirmed by DO. [SN]. Charcot-Marie-Tooth disease intermediate type A Charcot-Marie-Tooth disease characterized by motor conduction velocities above and below 38 m/s. url:http://www.ncbi.nlm.nih.gov/pubmed/16775371 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93114 An amino acid metabolic disorder that involves an excess of the amino acid methionine, in the blood. This condition can occur when methionine is not broken down properly in the body. disease_ontology DOID:0050544 Xref MGI. OMIM mapping confirmed by DO. [SN]. hypermethioninemia An amino acid metabolic disorder that involves an excess of the amino acid methionine, in the blood. This condition can occur when methionine is not broken down properly in the body. url:http://en.wikipedia.org/wiki/Hypermethioninemia A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen. OMIM:306955 OMIM:605376 OMIM:606325 OMIM:613751 OMIM:614779 ORDO:450 heterotaxia situs ambiguus disease_ontology DOID:0050545 Xref MGI. OMIM mapping confirmed by DO. [SN]. visceral heterotaxy A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen. url:http://en.wikipedia.org/wiki/Situs_ambiguus OMIM:613743 ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE P450scc DEFICIENCY disease_ontology DOID:0050546 OMIM mapping confirmed by DO. [SN]. congenital adrenal insufficiency A thyroid medullary carcinoma that has_material_basis_in autosomal dominant inheritance. OMIM:155240 THYROID CARCINOMA, FAMILIAL MEDULLARY disease_ontology DOID:0050547 OMIM mapping confirmed by DO. [SN]. familial medullary thyroid carcinoma A neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages. OMIM:162400 OMIM:201300 OMIM:256800 OMIM:256860 OMIM:310470 OMIM:608088 OMIM:608654 OMIM:613115 OMIM:613640 OMIM:613708 OMIM:614116 OMIM:614213 OMIM:614653 OMIM:615548 OMIM:615632 OMIM:616488 congenital insensitivity to pain familial dysautonomia, type II hereditary sensory and autonomic neuropathy disease_ontology DOID:0050548 Xref MGI. OMIM mapping confirmed by DO. [SN]. hereditary sensory neuropathy A neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages. url:http://omim.org/entry/616488?search=616488&highlight=616488 type I short rib polydactyly syndrome disease_ontology DOID:0050549 Saldino-Noonan syndrome type II short rib-polydactyly syndrome disease_ontology DOID:0050550 OMIM mapping confirmed by DO. [SN]. Majewski syndrome true type III short rib-polydactyly syndrome disease_ontology DOID:0050551 OMIM mapping confirmed by DO. [SN]. Verma-Naumoff syndrome true An autosomal recessive disease that is characterized by childhood onset of joint stiffness and severe contractures of the hands and feet, erythematous skin lesions with subsequent development of severe lipodystrophy. JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCED LIPODYSTROPHY disease_ontology DOID:0050553 JMP syndrome An autosomal recessive disease that is characterized by childhood onset of joint stiffness and severe contractures of the hands and feet, erythematous skin lesions with subsequent development of severe lipodystrophy. url:http://jcem.endojournals.org/cgi/reprint/95/9/E58.pdf url:http://www.eurekalert.org/pub_releases/2010-12/usmc-rig120110.php OMIM:301310 Anemia sideroblastic and spinocerebellar ataxia X-linked sideroblastic anemia and ataxia disease_ontology DOID:0050554 OMIM mapping confirmed by DO. [SN]. X-linked sideroblastic anemia with ataxia OMIM:271245 OHAHA SYNDROME disease_ontology DOID:0050556 infantile onset spinocerebellar ataxia A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted. ICD9CM:359.0 OMIM:254100 ORDO:97242 SNOMEDCT_US_2016_03_01:111501005 SNOMEDCT_US_2016_03_01:193221009 SNOMEDCT_US_2016_03_01:193224001 UMLS_CUI:C2937300 disease_ontology DOID:0050557 Xref MGI. OMIM mapping confirmed by DO. [SN]. congenital muscular dystrophy A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted. url:http://rarediseases.org/rare-diseases/congenital-muscular-dystrophy/ url:http://www.ninds.nih.gov/disorders/md/detail_md.htm OMIM:254090 ULLRICH DISEASE Ullrich scleroatonic muscular dystrophy disease_ontology DOID:0050558 OMIM mapping confirmed by DO. [SN]. Ullrich congenital muscular dystrophy OMIM:253800 ORDO:272 disease_ontology DOID:0050559 OMIM mapping confirmed by DO. [SN]. Fukuyama congenital muscular dystrophy OMIM:236670 OMIM:253280 HARD syndrome cerebroocular dysplasia-muscular dystrophy syndrome disease_ontology DOID:0050560 OMIM mapping confirmed by DO. [SN]. Walker-Warburg syndrome OMIM:606369 Lennox syndrome disease_ontology DOID:0050561 Lennox-Gastaut syndrome disease_ontology DOID:0050562 West syndrome An auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms. nonsyndromic hearing loss nonsyndromic hereditary hearing loss disease_ontology DOID:0050563 nonsyndromic deafness An auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms. url:http://en.wikipedia.org/wiki/Nonsyndromic_hearing_loss_and_deafness url:http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness url:http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0012742 A nonsyndromic deafness characterized by an autosomal dominant inheritance mode. ICD10CM:H90.3 OMIM:PS124900 ORDO:90635 autosomal dominant deafness disease_ontology DOID:0050564 OMIM mapping confirmed by DO. [SN]. autosomal dominant nonsyndromic deafness A nonsyndromic deafness characterized by an autosomal dominant inheritance mode. url:http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness A nonsyndromic deafness characterized by an autosomal recessive inheritance mode. ICD10CM:H90.3 OMIM:607197 OMIM:PS220290 ORDO:90636 disease_ontology DOID:0050565 OMIM mapping confirmed by DO. [SN]. autosomal recessive nonsyndromic deafness A nonsyndromic deafness characterized by an autosomal recessive inheritance mode. url:http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness A nonsyndromic deafness characterized by an X-linked inheritance mode. ICD10CM:H90.3 OMIM:300030 OMIM:300066 OMIM:300614 OMIM:300914 OMIM:304400 OMIM:304500 ORDO:90625 X-linked deafness disease_ontology DOID:0050566 OMIM mapping confirmed by DO. [SN]. X-linked nonsyndromic deafness A nonsyndromic deafness characterized by an X-linked inheritance mode. url:http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness OMIM:119530 OMIM:600625 OMIM:600757 OMIM:602966 OMIM:608371 OMIM:608864 OMIM:608874 OMIM:610361 OMIM:612858 OMIM:613705 OMIM:613857 OMIM:615892 disease_ontology DOID:0050567 Xref MGI. OMIM mapping confirmed by DO. [SN]. orofacial cleft A dysostosis that results_in abnormal development located_in vertebrae or located_in ribs. The bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together. OMIM:122600 OMIM:277300 OMIM:608681 OMIM:609813 OMIM:613686 ORDO:1797 ORDO:2311 Jarcho-Levin syndrome spondylocostal dysostosis, autosomal recessive 3 spondylothoracic dysostosis spondylothoracic dysplasia disease_ontology DOID:0050568 Xref MGI. OMIM mapping confirmed by DO. [SN]. spondylocostal dysostosis A dysostosis that results_in abnormal development located_in vertebrae or located_in ribs. The bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together. url:http://en.wikipedia.org/wiki/Spondylocostal_dysostosis url:http://ghr.nlm.nih.gov/condition/spondylocostal-dysostosis An autosomal recessive disease characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability. ICD10CM:Q87.1 OMIM:210600 OMIM:606744 OMIM:613676 OMIM:613823 OMIM:614728 OMIM:614851 OMIM:615807 ORDO:808 Harper's syndrome Virchow-Seckel dwarfism bird-headed dwarfism microcephalic primordial dwarfism disease_ontology DOID:0050569 Xref MGI. OMIM mapping confirmed by DO. [SN]. Seckel syndrome An autosomal recessive disease characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability. url:http://en.wikipedia.org/wiki/Seckel_syndrome A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor. OMIM:212065 OMIM:300884 OMIM:300934 OMIM:601110 OMIM:602579 OMIM:603147 OMIM:607143 OMIM:607906 OMIM:608093 OMIM:608104 OMIM:608540 OMIM:608776 OMIM:608799 OMIM:609180 OMIM:610768 OMIM:612015 OMIM:612379 OMIM:612937 OMIM:613661 OMIM:614507 OMIM:614921 OMIM:615042 OMIM:615596 OMIM:615597 OMIM:616457 ALG1-CDG (CDG-1k) ALG11-CDG (CDG-1p) ALG12-CDG (CDG-1g) ALG2-CDG (CDG-1i) ALG3-CDG (CDG-1d) ALG6-CDG (CDG-1c) ALG8-CDG (CDG-1h) ALG9-CDG (CDG-1l) DOLK-CDG (CDG-1m) DPAGT1-CDG (CDG-1j) DPM1-CDG (CDG-1e) DPM2-CDG (CDG-1u) DPM3-CDG (CDG-1o) MPDU1-CDG (CDG-1f) MPI-CDG (CDG-1b) PMM2-CDG (CDG-1a) RFT1-CDG (CDG-1n) SRD5A3-CDG (CDG-1q) disease_ontology DOID:0050570 OMIM mapping confirmed by DO. [SN]. congenital disorder of glycosylation type I A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor. url:http://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation#Classification A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain. OMIM:212066 OMIM:266265 OMIM:300896 OMIM:603585 OMIM:606056 OMIM:607091 OMIM:608779 OMIM:611182 OMIM:611209 OMIM:613489 OMIM:613612 OMIM:614576 OMIM:614727 B4GALT1-CDG (CDG-2d) MGAT2-CDG (CDG-2a) MOGS-CDG (CDG-2b) disease_ontology DOID:0050571 OMIM mapping confirmed by DO. [SN]. congenital disorder of glycosylation type II A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain. url:http://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation#Classification A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells. ICD10CM:H35.5 ORDO:1872 cone-rod retinal dystrophy disease_ontology DOID:0050572 Xref MGI. OMIM mapping confirmed by DO. [SN]. cone-rod dystrophy A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells. url:http://lowvision.preventblindness.org/eye-conditions/cone-rod-dystrophy An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage. disease_ontology DOID:0050573 2-hydroxyglutaric aciduria An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage. url:http://en.wikipedia.org/wiki/2-Hydroxyglutaric_aciduria url:http://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia). OMIM:236792 L-2-HYDROXYGLUTARIC ACIDEMIA disease_ontology DOID:0050574 L-2-hydroxyglutaric aciduria An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia). url:http://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. OMIM:600721 OMIM:613657 disease_ontology DOID:0050575 D-2-hydroxyglutaric aciduria An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. url:http://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria An autosomal recessive genetic disease characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. ICD10CM:Q61.5 OMIM:266900 OMIM:606995 OMIM:606996 OMIM:609254 OMIM:610189 OMIM:613615 ORDO:3156 Loken Senior syndrome renal-retinal syndrome disease_ontology DOID:0050576 Xref MGI. OMIM mapping confirmed by DO. [SN]. Senior-Loken syndrome An autosomal recessive genetic disease characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. url:http://www.cigna.com/healthinfo/nord958.html OMIM:218330 OMIM:613610 Levin syndrome cranioectodermal dysplasia disease_ontology DOID:0050577 OMIM mapping confirmed by DO. [SN]. Sensenbrenner syndrome A macular degeneration that is characterized by a central cone dysfunction leading to a loss of vision with a normal fundus and normal fluorescein angiography findings. OMIM:613587 disease_ontology DOID:0050578 OMIM mapping confirmed by DO. [SN]. occult macular dystrophy A macular degeneration that is characterized by a central cone dysfunction leading to a loss of vision with a normal fundus and normal fluorescein angiography findings. url:www.iovs.org/content/41/2/513.full.pdf OMIM:613507 glycogen storage disease type XV disease_ontology DOID:0050579 glycogen storage disease XV A lymphedema commonly located_in legs, caused_by congenital abnormalities in the lymphatic system. ICD9CM:757.0 OMIM:153100 OMIM:153200 OMIM:247440 OMIM:611944 OMIM:613480 OMIM:615907 ORDO:79452 SNOMEDCT_US_2016_03_01:205542007 SNOMEDCT_US_2016_03_01:205543002 SNOMEDCT_US_2016_03_01:205546005 SNOMEDCT_US_2016_03_01:75127007 UMLS_CUI:C1313885 Milroy's disease Nonne-Milroy lymphedema disease_ontology DOID:0050580 Xref MGI. OMIM mapping confirmed by DO. [SN]. hereditary lymphedema A lymphedema commonly located_in legs, caused_by congenital abnormalities in the lymphatic system. url:http://en.wikipedia.org/wiki/Milroy%27s_disease A dysostosis characterized by short fingers and toes. ORDO:294937 disease_ontology DOID:0050581 Xref MGI. OMIM mapping confirmed by DO. [SN]. brachydactyly A dysostosis characterized by short fingers and toes. url:http://en.wikipedia.org/wiki/Brachydactyly disease_ontology DOID:0050583 Chlamydophila pneumoniae infectious disease true A tertiary syphilis that is characterized by granulomatous lesions, called gummas, which are characterized by a center of necrotic tissue with a rubbery texture. They form in the liver, bones, and testes but may affect any organ. disease_ontology DOID:0050584 gummatous syphilis A tertiary syphilis that is characterized by granulomatous lesions, called gummas, which are characterized by a center of necrotic tissue with a rubbery texture. They form in the liver, bones, and testes but may affect any organ. url:http://emedicine.medscape.com/article/229461-overview#a0104 OMIM:PS608594 Beradinelli-Seip syndrome disease_ontology DOID:0050585 OMIM mapping confirmed by DO. [SN]. congenital generalized lipodystrophy An impulse control disorder that involves the uncontrollable plucking of ones hair. OMIM:613229 disease_ontology DOID:0050587 OMIM mapping confirmed by DO. [SN]. trichotillomania An impulse control disorder that involves the uncontrollable plucking of ones hair. url:http://www.forensicpsychiatry.ca/impulse/trich.htm ICD10CM:G71.2 OMIM:613150 OMIM:613151 OMIM:613152 OMIM:613153 OMIM:613154 OMIM:613155 OMIM:613156 OMIM:614643 OMIM:614830 OMIM:615041 OMIM:615181 OMIM:615249 OMIM:615287 OMIM:615350 OMIM:615351 OMIM:616052 OMIM:616094 ORDO:370953 CMD due to dystroglycanopathy disease_ontology DOID:0050588 Xref MGI. muscular dystrophy-dystroglycanopathy CMD due to dystroglycanopathy ORDO:370953 An intestinal disease characterized by inflammation located_in all parts of digestive tract. EFO:0003767 KEGG:05321 MESH:D015212 NCI:C3138 OMIM:PS266600 SNOMEDCT_US_2016_03_01:155759008 SNOMEDCT_US_2016_03_01:196974002 SNOMEDCT_US_2016_03_01:24526004 SNOMEDCT_US_2016_03_01:266516008 UMLS_CUI:C0021390 disease_ontology DOID:0050589 Xref MGI. OMIM mapping confirmed by DO. [SN]. inflammatory bowel disease An intestinal disease characterized by inflammation located_in all parts of digestive tract. url:http://en.wikipedia.org/wiki/Inflammatory_bowel_disease url:http://www.mayoclinic.org/diseases-conditions/inflammatory-bowel-disease/basics/definition/con-20034908 A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections. ICD10CM:D70 OMIM:202700 OMIM:300299 OMIM:610738 OMIM:612541 OMIM:613107 OMIM:615285 OMIM:616022 ORDO:486 ORDO:86788 disease_ontology DOID:0050590 Xref MGI. OMIM mapping confirmed by DO. [SN]. severe congenital neutropenia A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections. url:http://www.ncbi.nlm.nih.gov/pubmed/17133096 A tooth disease characterized by failure to develop on or more missing teeth. ICD10CM:K00.0 ICD9CM:520.0 MESH:D000848 OMIM:106600 OMIM:150400 OMIM:313500 OMIM:602639 OMIM:604625 OMIM:610926 ORDO:2227 ORDO:99798 SNOMEDCT_US_2016_03_01:16958000 SNOMEDCT_US_2016_03_01:196265005 SNOMEDCT_US_2016_03_01:196266006 SNOMEDCT_US_2016_03_01:196269004 SNOMEDCT_US_2016_03_01:234951001 SNOMEDCT_US_2016_03_01:26624006 UMLS_CUI:C0399352 familial tooth agenesis hypodontia oligodontia selective tooth agenesis disease_ontology DOID:0050591 Xref MGI. tooth agenesis A tooth disease characterized by failure to develop on or more missing teeth. url:http://en.wikipedia.org/wiki/Hypodontia ICD10CM:Q77.2 OMIM:PS208500 ORDO:474 Jeune syndrome short-rib thoracic dysplasia with or without polydactyly thoracic pelvic phalangeal dystrophy disease_ontology DOID:0050592 OMIM mapping confirmed by DO. [SN]. asphyxiating thoracic dystrophy thoracic pelvic phalangeal dystrophy url:http://www.ncbi.nlm.nih.gov/pubmed/?term=6636109 OMIM:613085 OMIM:613086 disease_ontology DOID:0050593 Xref MGI. primary congenital glaucoma A glycogen storage disease characterized by deficiency of hepatic phosphorylase kinase activity. disease_ontology DOID:0050594 glycogen storage disease IX A glycogen storage disease characterized by deficiency of hepatic phosphorylase kinase activity. url:https://www.ncbi.nlm.nih.gov/pubmed/17689125 disease_ontology DOID:0050595 mucormycosis true A parasitic helminthiasis infectious disease that has_material_basis_in Taenia solium or has_material_basis_in Taenia saginata, which are transmitted_by ingestion of undercooked contaminated meat. DOID:10076 ICD10CM:B68.1 ICD9CM:123.2 SNOMEDCT_US_2016_03_01:69163003 UMLS_CUI:C0152073 disease_ontology Beef tapeworm infection Infection by Taeniarhynchus saginatus Taenia saginata infectious disease DOID:0050596 taeniasis A parasitic helminthiasis infectious disease that has_material_basis_in Taenia solium or has_material_basis_in Taenia saginata, which are transmitted_by ingestion of undercooked contaminated meat. url:http://en.wikipedia.org/wiki/Taeniasis Infection by Taeniarhynchus saginatus MTHICD9_2006:123.2 A schistosomiasis that involves parasitic infection of the intestine caused by Schistosoma mansoni, Schistosoma intercalatum or Schistosomiasis japonicum. The symptoms include fever, cough, abdominal pain, diarrhea, hepatosplenomegaly, colonic polyposis with bloody diarrhea and eosinophilia. DOID:13692 DOID:13721 DOID:3468 ICD10CM:B65.1 ICD10CM:B65.2 ICD9CM:120.1 ICD9CM:120.2 MESH:D012554 MESH:D012555 NCI:C35001 NCI:C35002 NCI:C35364 OMIM:181460 ORDO:1247 SNOMEDCT_US_2016_03_01:187114003 SNOMEDCT_US_2016_03_01:268058007 SNOMEDCT_US_2016_03_01:52179003 SNOMEDCT_US_2016_03_01:6421008 SNOMEDCT_US_2016_03_01:750009 UMLS_CUI:C0036329 UMLS_CUI:C0036330 UMLS_CUI:C0276932 Katayama fever Schistosoma japonicum infection Schistosoma mansoni infectious disease schistosomiasis japonica disease_ontology DOID:0050597 Xref MGI. intestinal schistosomiasis A schistosomiasis that involves parasitic infection of the intestine caused by Schistosoma mansoni, Schistosoma intercalatum or Schistosomiasis japonicum. The symptoms include fever, cough, abdominal pain, diarrhea, hepatosplenomegaly, colonic polyposis with bloody diarrhea and eosinophilia. url:http://en.wikipedia.org/wiki/Schistosomiasis Katayama fever SNOMEDCT_2005_07_31:268981007 Schistosoma japonicum infection NCI2004_11_17:C35001 A tuberculosis that occurs at body sites other than the lung. disease_ontology DOID:0050598 extrapulmonary tuberculosis A tuberculosis that occurs at body sites other than the lung. url:http://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf An extrapulmonary tuberculosis that is located_in gastrointestinal tract, located_in peritoneum, located_in omentum, located_in mesentery, located_in liver, located_in spleen or located_in pancreas. disease_ontology DOID:0050599 abdominal tuberculosis An extrapulmonary tuberculosis that is located_in gastrointestinal tract, located_in peritoneum, located_in omentum, located_in mesentery, located_in liver, located_in spleen or located_in pancreas. url:http://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has_material_basis_in a mutation in the endothelin B receptor gene (EDNRB). OMIM:600501 albinism, block lock, cell migration disorder of the neurocytes of the gut, and deafness disease_ontology DOID:0050600 OMIM mapping confirmed by DO. [SN]. ABCD syndrome An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has_material_basis_in a mutation in the endothelin B receptor gene (EDNRB). url:http://en.wikipedia.org/wiki/ABCD_syndrome url:http://omim.org/entry/600501 An autosomal dominant disease that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has_material_basis_in a mutation in TP63. OMIM:103285 acro-dermato-ungual-lacrimal-tooth syndrome disease_ontology DOID:0050601 OMIM mapping confirmed by DO. [SN]. ADULT syndrome An autosomal dominant disease that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has_material_basis_in a mutation in TP63. url:http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.30900/pdf OMIM:231550 Achalasia-Addisonianism-Alacrimia syndrome Allgrove Syndrome disease_ontology DOID:0050602 OMIM mapping confirmed by DO. [SN]. triple-A syndrome OMIM:200500 Acheiropodia Horn-Kolb Syndrome disease_ontology DOID:0050603 OMIM mapping confirmed by DO. [SN]. acheiropody OMIM:607778 disease_ontology DOID:0050604 OMIM mapping confirmed by DO. [SN]. acrocapitofemoral dysplasia OMIM:201100 disease_ontology DOID:0050605 acrodermatitis enteropathica OMIM:101900 Acrokeratosis verruciformis of Hopf Hopf disease disease_ontology DOID:0050606 OMIM mapping confirmed by DO. [SN]. acrokeratosis verruciformis Askin tumor disease_ontology DOID:0050608 Askin's tumor disease_ontology DOID:0050610 oral cavity carcinoma in situ disease_ontology DOID:0050611 pharynx carcinoma in situ disease_ontology DOID:0050612 gall bladder carcinoma in situ disease_ontology DOID:0050613 bile duct carcinoma in situ disease_ontology DOID:0050614 bronchus carcinoma in situ An organ system cancer located_in the respiratory system that is characterized by uncontrolled cellular proliferation in the respiratory tract. disease_ontology DOID:0050615 respiratory system cancer An organ system cancer located_in the respiratory system that is characterized by uncontrolled cellular proliferation in the respiratory tract. url:http://en.wikipedia.org/wiki/Respiratory_tract_neoplasm DOID:4755 NCI:C4213 SNOMEDCT_US_2016_03_01:77870005 UMLS_CUI:C0334410 Leydig cell tumor, malignant (morphologic abnormality) malignant Leydig cell neoplasm malignant interstitial cell tumor disease_ontology DOID:0050616 malignant Leydig cell tumor Leydig cell tumor, malignant (morphologic abnormality) SNOMEDCT_2005_07_31:77870005 malignant Leydig cell neoplasm NCI2004_11_17:C4213 disease_ontology DOID:0050617 malignant Sertoli cell tumor disease_ontology DOID:0050618 malignant Sertoli-Leydig cell tumor A respiratory system cancer that is located_in the paranasal sinuses. DOID:1354 DOID:2442 DOID:2765 DOID:2767 DOID:4689 MESH:D010255 NCI:C6014 NCI:C6017 NCI:C6018 NCI:C6019 NCI:C8193 UMLS_CUI:C0280334 UMLS_CUI:C0854995 UMLS_CUI:C1335336 UMLS_CUI:C1335337 UMLS_CUI:C1335340 Epidermoid carcinoma of the paranasal sinus Mucoepidermoid carcinoma of Accessory sinus adenoid cystic carcinoma of Accessory sinus paranasal sinus adenocarcinoma paranasal sinus adenoid cystic carcinoma paranasal sinus mucoepidermoid carcinoma paranasal sinus squamous cell carcinoma disease_ontology adenoid cystic carcinoma of paranasal sinus squamous cell carcinoma of paranasal sinus DOID:0050619 paranasal sinus cancer A respiratory system cancer that is located_in the paranasal sinuses. url:http://www.cancer.gov/cancertopics/pdq/treatment/paranasalsinus/Patient/page1 Epidermoid carcinoma of the paranasal sinus NCI2004_11_17:C8193 Mucoepidermoid carcinoma of Accessory sinus NCI2004_11_17:C6018 adenoid cystic carcinoma of Accessory sinus NCI2004_11_17:C6019 disease_ontology DOID:0050620 infiltrating renal pelvis transitional cell carcinoma An organ system benign neoplasm that is located_in the respiratory system which extends from the nasal sinuses to the diaphragm. disease_ontology DOID:0050621 respiratory system benign neoplasm An organ system benign neoplasm that is located_in the respiratory system which extends from the nasal sinuses to the diaphragm. url:http://en.wikipedia.org/wiki/Respiratory_system An organ system benign neoplasm that is located_in reproductive system organs. disease_ontology DOID:0050622 reproductive organ benign neoplasm An organ system benign neoplasm that is located_in reproductive system organs. url:http://en.wikipedia.org/wiki/Reproductive_system disease_ontology DOID:0050623 bladder benign neoplasm An organ system benign neoplasm located_in gastrointestinal tract organs. disease_ontology DOID:0050624 gastrointestinal system benign neoplasm An organ system benign neoplasm located_in gastrointestinal tract organs. url:http://en.wikipedia.org/wiki/Human_gastrointestinal_tract A hepatobiliary benign neoplasm located_in the biliary tract. DOID:4609 NCI:C4441 SNOMEDCT_US_2016_03_01:126855001 UMLS_CUI:C0345913 extrahepatic bile duct neoplasm neoplasm of extrahepatic bile ducts (disorder) tumor of the extrahepatic bile duct disease_ontology DOID:0050625 biliary tract neoplasm A hepatobiliary benign neoplasm located_in the biliary tract. url:http://en.wikipedia.org/wiki/Hepatobiliary_system#Biliary_tract neoplasm of extrahepatic bile ducts (disorder) SNOMEDCT_2005_07_31:126855001 tumor of the extrahepatic bile duct NCI2004_11_17:C4441 A gastrointestinal system cancer that has_material_basis_in neuroendocrine cells. malignant gastrointestinal neuroendocrine tumor disease_ontology DOID:0050626 gastrointestinal neuroendocrine tumor A gastrointestinal system cancer that has_material_basis_in neuroendocrine cells. url:http://en.wikipedia.org/wiki/Neuroendocrine_tumor url:http://www.cancer.gov/dictionary?CdrID=44904 A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning. OMIM:PS604348 ORDO:164736 familial advanced sleep-phase syndrome disease_ontology DOID:0050628 Xref MGI. advanced sleep phase syndrome A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning. url:http://en.wikipedia.org/wiki/Advanced_sleep_phase_syndrome An autosomal recessive disease that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections. ICD10CM:G31.8 OMIM:225750 OMIM:610181 OMIM:610329 OMIM:610333 OMIM:612952 OMIM:615010 OMIM:615846 ORDO:51 Cree encephalitis disease_ontology DOID:0050629 Xref MGI. OMIM mapping confirmed by DO. [SN]. Aicardi-Goutieres syndrome An autosomal recessive disease that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections. url:http://omim.org/entry/225750 url:http://www.ncbi.nlm.nih.gov/books/NBK1475/ OMIM:300600 FORSIUS-ERIKSSON TYPE OCULAR ALBINISM Forsius-Eriksson syndrome disease_ontology DOID:0050630 Aland Island eye disease An X-linked disease that has material basis in mutation at is in the gene encoding the monocarboxylate transporter-8 which alters the structure and function of the SLC16A2 protein which is then unable to transport the thyroid triiodothyronine (T3) hormone into nerve cells of the developing brain affecting normal brain development resulting in intellectual disability and problems with movement. OMIM:300523 ALLAN-HERNDON SYNDROME disease_ontology DOID:0050631 OMIM mapping confirmed by DO. [SN]. Allan-Herndon-Dudley syndrome An X-linked disease that has material basis in mutation at is in the gene encoding the monocarboxylate transporter-8 which alters the structure and function of the SLC16A2 protein which is then unable to transport the thyroid triiodothyronine (T3) hormone into nerve cells of the developing brain affecting normal brain development resulting in intellectual disability and problems with movement. url:http://ghr.nlm.nih.gov/condition/allan-herndon-dudley-syndrome url:http://omim.org/entry/300523 An autosomal recessive disease characterized by abnormal pigmentation of the skin, hair and eyes. ICD10CM:E70.3 OMIM:203100 OMIM:203200 OMIM:203290 OMIM:606574 OMIM:606952 OMIM:614473 OMIM:615312 ORDO:55 disease_ontology DOID:0050632 Xref MGI. OMIM mapping confirmed by DO. [SN]. oculocutaneous albinism An autosomal recessive disease characterized by abnormal pigmentation of the skin, hair and eyes. url:en.wikipedia.org/wiki/Oculocutaneous_albinism url:http://ghr.nlm.nih.gov/condition/oculocutaneous-albinism OMIM:300500 disease_ontology DOID:0050633 ocular albinism OMIM:203655 ALOPECIA UNIVERSALIS CONGENITA disease_ontology DOID:0050634 alopecia universalis A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body. ICD10CM:G98 OMIM:104290 OMIM:614820 ORDO:2131 AHC disease_ontology DOID:0050635 Xref MGI. OMIM mapping confirmed by DO. [SN]. alternating hemiplegia of childhood A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body. url:http://en.wikipedia.org/wiki/Alternating_hemiplegia_of_childhood url:http://ghr.nlm.nih.gov/condition/alternating-hemiplegia-of-childhood OMIM:105200 AMYLOIDOSIS, FAMILIAL RENAL German type amyloidosis OSTERTAG TYPE AMYLOIDOSIS systemic nonneuropathic amyloidosis disease_ontology DOID:0050636 OMIM mapping confirmed by DO. [SN]. familial visceral amyloidosis OMIM:105120 AMYLOIDOSIS, MERETOJA TYPE disease_ontology DOID:0050637 OMIM mapping confirmed by DO. [SN]. Finnish type amyloidosis An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene. OMIM:105210 Amyloidosis, hereditary, transthyretin-related Corino de Andrade's disease Familial transthyretin amyloidosis TTR amyloidosis familial amyloid polyneuropathy transthyretin-related hereditary amyloidosis disease_ontology DOID:0050638 OMIM mapping confirmed by DO. [SN]. transthyretin amyloidosis An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene. url:http://en.wikipedia.org/wiki/Transthyretin-related_hereditary_amyloidosis url:http://ghr.nlm.nih.gov/condition/transthyretin-amyloidosis url:http://www.ncbi.nlm.nih.gov/books/NBK1194/ url:http://www.ncbi.nlm.nih.gov/pubmed/?term=19372706 url:http://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=85451 An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis. OMIM:105250 OMIM:613955 ORDO:137807 PCA familial primary localized cutaneous amyloidosis disease_ontology DOID:0050639 Xref MGI. OMIM mapping confirmed by DO. [SN]. primary cutaneous amyloidosis An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis. url:http://www.ncbi.nlm.nih.gov/pubmed/19663869 A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation. OMIM:607095 spondylometaepiphyseal dysplasia, Menger type disease_ontology DOID:0050640 OMIM mapping confirmed by DO. [SN]. anauxetic dysplasia 1 A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation. url:https://www.ncbi.nlm.nih.gov/books/NBK84550/ OMIM:268150 disease_ontology DOID:0050641 OMIM mapping confirmed by DO. [SN]. Rh deficiency syndrome A microcytic anemia characterized by paler than normal blood cells. OMIM:206100 OMIM:615234 disease_ontology DOID:0050642 Xref MGI. OMIM mapping confirmed by DO. [SN]. hypochromic microcytic anemia A microcytic anemia characterized by paler than normal blood cells. url:http://en.wikipedia.org/wiki/Hypochromic_anemia OMIM:206800 HYPONYCHIA CONGENITA disease_ontology DOID:0050643 OMIM mapping confirmed by DO. [SN]. anonychia congenita A vascular disease that is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall. OMIM:208000 OMIM:614473 ORDO:51608 generalized arterial calcification of infancy idiopathic infantile arterial calcification infantile arteriosclerosis disease_ontology DOID:0050644 Xref MGI. OMIM mapping confirmed by DO. [SN]. arterial calcification of infancy A vascular disease that is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall. url:http://en.wikipedia.org/wiki/Idiopathic_infantile_arterial_calcification url:http://www.omim.org/entry/208000 A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta. OMIM:208050 disease_ontology DOID:0050645 OMIM mapping confirmed by DO. [SN]. arterial tortuosity syndrome A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta. url:http://en.wikipedia.org/wiki/Arterial_tortuosity_syndrome url:http://ghr.nlm.nih.gov/condition/arterial-tortuosity-syndrome A muscle tissue disease characterized by congenital joint contractures of hand and feet. OMIM:108120 OMIM:108145 OMIM:108200 OMIM:114300 OMIM:121050 OMIM:121070 OMIM:158300 OMIM:178110 OMIM:187370 OMIM:193700 OMIM:601680 OMIM:609128 OMIM:614335 OMIM:615065 ORDO:1147 ORDO:97120 Arthrogryposis Multiplex Congenita Freeman-Sheldon syndrome Freeman-Sheldon syndrome variant Sheldon-Hall syndrome disease_ontology DOID:0050646 Xref MGI. OMIM mapping confirmed by DO. [SN]. distal arthrogryposis A muscle tissue disease characterized by congenital joint contractures of hand and feet. url:http://en.wikipedia.org/wiki/Arthrogryposis An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene. ICD10CM:E79.8 MESH:C535388 OMIM:301835 ORDO:1187 UMLS_CUI:C0796028 ARTS Lethal ataxia with deafness and optic atrophy MRXS18 MRXSARTS fatal X-linked ataxia with deafness and loss of vision syndromic X-linked mental retardation 18 syndromic X-linked mental retardation Arts type disease_ontology DOID:0050647 OMIM mapping confirmed by DO. [SN]. Arts syndrome An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene. url:http://ghr.nlm.nih.gov/condition/arts-syndrome url:http://www.ncbi.nlm.nih.gov/books/NBK2591/ url:http://www.ncbi.nlm.nih.gov/pubmed/20301738 url:http://www.omim.org/entry/301835 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=1187&lng=EN OMIM:108720 OMIM:108721 OMIM:256050 disease_ontology DOID:0050648 OMIM mapping confirmed by DO. [SN]. atelosteogenesis OMIM:209300 familial hypotransferrinemia disease_ontology DOID:0050649 OMIM mapping confirmed by DO. [SN]. atransferrinemia An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes. OMIM:607554 OMIM:608583 OMIM:608988 OMIM:611493 OMIM:611494 OMIM:612201 OMIM:612240 OMIM:613055 OMIM:613980 OMIM:614022 OMIM:614049 OMIM:614050 OMIM:615377 OMIM:615378 OMIM:615770 ORDO:334 ATFB disease_ontology DOID:0050650 Xref MGI. familial atrial fibrillation An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes. url:http://en.wikipedia.org/wiki/Familial_atrial_fibrillation A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs. ICD10CM:Q21.2 ICD9CM:745.6 ICD9CM:745.60 MESH:D004694 OMIM:600309 OMIM:606215 OMIM:606217 OMIM:614430 OMIM:614474 ORDO:98722 SNOMEDCT_US_2016_03_01:15459006 SNOMEDCT_US_2016_03_01:204322008 SNOMEDCT_US_2016_03_01:204323003 SNOMEDCT_US_2016_03_01:204326006 SNOMEDCT_US_2016_03_01:204331008 UMLS_CUI:C0014116 AVCD AVSD ECD atrioventricular canal defect endocardial cushion defect disease_ontology DOID:0050651 Xref MGI. OMIM mapping confirmed by DO. [SN]. atrioventricular septal defect A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs. url:http://en.wikipedia.org/wiki/Atrioventricular_septal_defect url:http://www.cdc.gov/ncbddd/heartdefects/avsd.html disease_ontology DOID:0050652 soft tissue cancer true nevus of Clark disease_ontology DOID:0050653 dysplastic nevus true A synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone. MESH:C536788 OMIM:218600 ORDO:1223 SNOMEDCT_US_2016_03_01:77608001 UMLS_CUI:C0265308 disease_ontology DOID:0050654 OMIM mapping confirmed by DO. [SN]. Baller-Gerold syndrome A synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone. url:http://en.wikipedia.org/wiki/Baller%E2%80%93Gerold_syndrome url:http://ghr.nlm.nih.gov/condition/baller-gerold-syndrome url:http://www.ncbi.nlm.nih.gov/books/NBK1204/ OMIM:241850 HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE disease_ontology DOID:0050655 OMIM mapping confirmed by DO. [SN]. Bamforth-Lazarus syndrome An autosomal recessive disease that is characterized by congenital microcephaly, intracranial calcifications, severe developmental delay, simplified gyration and polymicrogyria, and severe developmental delay. OMIM:251290 band-like calcification with simplified gyration and polymicrogyria disease_ontology DOID:0050656 pseudo-TORCH syndrome 1 An autosomal recessive disease that is characterized by congenital microcephaly, intracranial calcifications, severe developmental delay, simplified gyration and polymicrogyria, and severe developmental delay. url:https://www.ncbi.nlm.nih.gov/pubmed/20727516 OMIM:153480 BANNAYAN-ZONANA SYNDROME RILEY-SMITH SYNDROME RUVALCABA-MYHRE-SMITH SYNDROME disease_ontology DOID:0050657 OMIM mapping confirmed by DO. [SN]. Bannayan-Riley-Ruvalcaba syndrome OMIM:149200 KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS disease_ontology DOID:0050658 OMIM mapping confirmed by DO. [SN]. Bart-Pumphrey syndrome OMIM:607483 disease_ontology DOID:0050659 OMIM mapping confirmed by DO. [SN]. biotin-responsive basal ganglia disease OMIM:123790 disease_ontology DOID:0050660 OMIM mapping confirmed by DO. [SN]. Beare-Stevenson cutis gyrata syndrome A macular degeneration that it is characterized by the disruption of cells in a small area near the center of the retina, the macula and may cause progressive vision loss. ICD10CM:H35.5 OMIM:153700 OMIM:153840 OMIM:608161 OMIM:616151 OMIM:616152 ORDO:1243 ORDO:99000 Best disease Best macular dystrophy juvenile-onset vitelliform macular dystrophy disease_ontology DOID:0050661 Xref MGI. OMIM mapping confirmed by DO. [SN]. vitelliform macular dystrophy A macular degeneration that it is characterized by the disruption of cells in a small area near the center of the retina, the macula and may cause progressive vision loss. url:http://en.wikipedia.org/wiki/Vitelliform_macular_dystrophy url:http://ghr.nlm.nih.gov/condition/vitelliform-macular-dystrophy OMIM:611809 autosomal recessive bestrophinopathy disease_ontology DOID:0050662 OMIM mapping confirmed by DO. [SN]. bestrophinopathy OMIM:158810 benign congenital muscular dystrophy disease_ontology DOID:0050663 OMIM mapping confirmed by DO. [SN]. Bethlem myopathy OMIM:210370 Bietti's crystalline dystrophy disease_ontology DOID:0050664 OMIM mapping confirmed by DO. [SN]. Bietti crystalline corneoretinal dystrophy A fetal alcohol spectrum disorder that results in severe mental and physical defects which can develop in a child when the mother drinks alcohol during pregnancy. The presenting features include craniofacial dysmorphology (microcephaly, smooth philtrum, thin upper lip, small eye openings), pre- and postnatal growth deficiency, and central nervous system dysfunction. disease_ontology DOID:0050665 fetal alcohol syndrome A fetal alcohol spectrum disorder that results in severe mental and physical defects which can develop in a child when the mother drinks alcohol during pregnancy. The presenting features include craniofacial dysmorphology (microcephaly, smooth philtrum, thin upper lip, small eye openings), pre- and postnatal growth deficiency, and central nervous system dysfunction. url:http://en.wikipedia.org/wiki/Fetal_alcohol_syndrome url:http://fasdcenter.samhsa.gov/documents/WYNKDiagnosis_5_colorJA_new.pdf url:http://www.cdc.gov/ncbddd/fasd/facts.html A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure. disease_ontology DOID:0050666 partial fetal alcohol syndrome A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure. url:http://depts.washington.edu/fasdpn/htmls/fasd-fas.htm url:http://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder url:http://fasdcenter.samhsa.gov/documents/WYNKDiagnosis_5_colorJA_new.pdf A fetal alcohol spectrum disorder that results in central nervous system dysfunction and behavioral and/or cognitive deficits due to prenatal alcohol exposure. ARND static encephalopathy disease_ontology DOID:0050667 alcohol-related neurodevelopmental disorder A fetal alcohol spectrum disorder that results in central nervous system dysfunction and behavioral and/or cognitive deficits due to prenatal alcohol exposure. url:http://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder url:http://fasdcenter.samhsa.gov/documents/WYNKDiagnosis_5_colorJA_new.pdf A fetal alcohol spectrum disorder that results in damage to organs, bones, or muscles due to prenatal alcohol exposure. ARBD disease_ontology DOID:0050668 alcohol-related birth defect A fetal alcohol spectrum disorder that results in damage to organs, bones, or muscles due to prenatal alcohol exposure. url:http://fasdcenter.samhsa.gov/documents/WYNKDiagnosis_5_colorJA_new.pdf url:http://www.cdc.gov/ncbddd/fasd/facts.html A cerebral palsy that is caused by damage in the outer layer of the brain, the cerebral cortex, which results in increased tone, or tension, in a muscle causing abnormal movements. disease_ontology DOID:0050669 spastic cerebral palsy A cerebral palsy that is caused by damage in the outer layer of the brain, the cerebral cortex, which results in increased tone, or tension, in a muscle causing abnormal movements. url:http://www.cerebralpalsylawdoctor.com/cerebral-palsy/spastic.html url:http://www.cerebralpalsysource.com/Types_of_CP/spastic_cp/index.html A cerebral palsy that is caused by damage to the cerebellum, which affects muscle coordination, particularly in the limb. Some individuals suffer from hypotonia, tremors, difficulty with visual and/or auditory processing. hypotonic cerebral palsy disease_ontology DOID:0050670 ataxic cerebral palsy A cerebral palsy that is caused by damage to the cerebellum, which affects muscle coordination, particularly in the limb. Some individuals suffer from hypotonia, tremors, difficulty with visual and/or auditory processing. url:http://en.wikipedia.org/wiki/Cerebral_palsy#Ataxic url:http://www.brainandspinalcord.org/cerebral-palsy/types/ataxic-cerebral-palsy.html snadendla 2011-06-15T02:48:20Z disease_ontology DOID:0050671 female breast cancer A cerebral palsy that is caused by damage to the extrapyramidal motor system and/or pyramidal tract and to the basal ganglia, which results in mixed muscle tone (hypertonia and hypotonia). The individuals have trouble holding themselves in an upright, steady position for sitting or walking, and often show involuntary motions. Athetoid Dyskinetic Cerebral Palsy disease_ontology DOID:0050672 dyskinetic cerebral palsy A cerebral palsy that is caused by damage to the extrapyramidal motor system and/or pyramidal tract and to the basal ganglia, which results in mixed muscle tone (hypertonia and hypotonia). The individuals have trouble holding themselves in an upright, steady position for sitting or walking, and often show involuntary motions. url:http://en.wikipedia.org/wiki/Cerebral_palsy#Ataxic A cerebral palsy that is caused by injury to both the pyramidal and extra pyramidal areas of the brain, which results in both the tight muscle tone and the involuntary movements. The individual have difficulty with speaking and swallowing. disease_ontology DOID:0050673 mixed cerebral palsy A cerebral palsy that is caused by injury to both the pyramidal and extra pyramidal areas of the brain, which results in both the tight muscle tone and the involuntary movements. The individual have difficulty with speaking and swallowing. url:http://www.brainandspinalcord.org/cerebral-palsy/types/mixed-cerebral-palsy url:http://www.cerebralpalsysource.com/Types_of_CP/mixed_cp/index.html A steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver. ICD10CM:K76.8 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency CBA cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency disease_ontology DOID:0050674 Xref MGI. OMIM mapping confirmed by DO. [SN]. congenital bile acid synthesis defect A steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver. url:https://rarediseases.org/rare-diseases/bile-acid-synthesis-disorders/ url:https://www.ncbi.nlm.nih.gov/pubmed/12543708 OMIM:612292 BIRK-BAREL MENTAL RETARDATION DYSMORPHISM SYNDROME disease_ontology DOID:0050675 OMIM mapping confirmed by DO. [SN]. Birk-Barel syndrome OMIM:135150 disease_ontology DOID:0050676 OMIM mapping confirmed by DO. [SN]. Birt-Hogg-Dube syndrome OMIM:262000 disease_ontology DOID:0050677 OMIM mapping confirmed by DO. [SN]. Bjornstad syndrome An autosomal dominant disease characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has material basis in mutations in the NOD2/CARD15 genes. NCI:C116794 OMIM:186580 SNOMEDCT:699861000 ARTHROCUTANEOUVEAL GRANULOMATOSIS Jabs syndrome disease_ontology DOID:0050678 OMIM mapping confirmed by DO. [SN]. Blau syndrome An autosomal dominant disease characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has material basis in mutations in the NOD2/CARD15 genes. url:http://en.wikipedia.org/wiki/Blau_syndrome url:http://www.omim.org/entry/186580?search=186580&highlight=186580 An achromatopsia that is characterized by severely impaired color discrimination, low visual acuity, nystagmus, photophobia due to the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina and has_material_basis_in recessive X-linked inheritance. OMIM:303700 disease_ontology DOID:0050679 OMIM mapping confirmed by DO. [SN]. blue cone monochromacy An achromatopsia that is characterized by severely impaired color discrimination, low visual acuity, nystagmus, photophobia due to the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina and has_material_basis_in recessive X-linked inheritance. url:http://omim.org/entry/303700 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=16 OMIM:112310 disease_ontology DOID:0050680 OMIM mapping confirmed by DO. [SN]. Boomerang dysplasia An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene. ICD10CM:Q87.8 MESH:C536575 OMIM:301900 ORDO:127 SNOMEDCT_US_2016_03_01:21634003 UMLS_CUI:C0265339 BFLS BORJ Borjeson syndrome MRXSBFL intellectual deficiency-epilepsy-endocrine disorders syndrome mental retardation, epilepsy, and endocrine disorder syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type disease_ontology DOID:0050681 OMIM mapping confirmed by DO. [SN]. Borjeson-Forssman-Lehmann syndrome An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene. url:http://rarediseases.info.nih.gov/gard/936/borjeson-forssman-lehmann-syndrome/resources/1 url:http://www.nature.com/ejhg/journal/v14/n12/full/5201639a.html OMIM:601536 NAVAJO BRAINSTEM SYNDROME disease_ontology DOID:0050682 OMIM mapping confirmed by DO. [SN]. Athabaskan brainstem dysgenesis syndrome OMIM:607475 Vasterbotten dystrophy disease_ontology DOID:0050683 OMIM mapping confirmed by DO. [SN]. Bothnia retinal dystrophy OMIM:211180 disease_ontology DOID:0050684 OMIM mapping confirmed by DO. [SN]. Bowen-Conradi syndrome A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells. snadendla 2011-06-13T01:25:14Z DOID:7137 NCI:C4099 SNOMEDCT_US_2016_03_01:189557009 SNOMEDCT_US_2016_03_01:5958006 UMLS_CUI:C0334239 Small cell carcinoma - intermediate cell Small cell carcinoma, intermediate cell (morphologic abnormality) intermediate cell small cell carcinoma disease_ontology DOID:0050685 small cell carcinoma A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells. url:http://en.wikipedia.org/wiki/Small_cell_carcinoma Small cell carcinoma - intermediate cell SNOMEDCT_2005_07_31:189557009 Small cell carcinoma, intermediate cell (morphologic abnormality) SNOMEDCT_2005_07_31:5958006 A cancer that is classified based on the organ it starts in. snadendla 2011-06-13T03:28:33Z MESH:D009371 disease_ontology DOID:0050686 organ system cancer A cancer that is classified based on the organ it starts in. url:http://cancerguide.org/basic.html A cancer that is classified by the type of cell from which it is derived. snadendla 2011-06-13T03:28:50Z disease_ontology DOID:0050687 cell type cancer A cancer that is classified by the type of cell from which it is derived. url:http://cancerguide.org/basic.html url:http://en.wikipedia.org/wiki/Cancer A large intestine cancer that is located_in the terminal part of the large intestine. snadendla 2011-06-14T01:34:36Z disease_ontology DOID:0050688 anal canal cancer A large intestine cancer that is located_in the terminal part of the large intestine. url:http://en.wikipedia.org/wiki/Anal_canal snadendla 2011-06-17T03:55:47Z OMIM:610713 disease_ontology DOID:0050689 OMIM mapping confirmed by DO. [SN]. brachydactyly-syndactyly syndrome An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature. snadendla 2011-06-17T04:00:27Z OMIM:113500 OMIM:271530 OMIM:271630 OMIM:613678 ORDO:1293 brachyrachia disease_ontology DOID:0050690 Xref MGI. OMIM mapping confirmed by DO. [SN]. brachyolmia An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature. url:http://www.ncbi.nlm.nih.gov/pubmed/10968486 An autosomal dominant disease that is characterized by low birth weight and growth retardation, bilateral branchial clefts. snadendla 2011-06-17T04:10:18Z OMIM:113620 disease_ontology DOID:0050691 OMIM mapping confirmed by DO. [SN]. branchiooculofacial syndrome An autosomal dominant disease that is characterized by low birth weight and growth retardation, bilateral branchial clefts. url:http://ghr.nlm.nih.gov/condition/branchio-oculo-facial-syndrome url:http://www.ncbi.nlm.nih.gov/books/NBK55063/ url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1297 url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/714/viewAbstract A neuromuscular disease is characterized by difficulty relaxing muscles and muscle stiffness following exercise or other strenuous activity and is located_in skeletal muscles. snadendla 2011-06-17T04:30:49Z OMIM:601003 disease_ontology DOID:0050692 OMIM mapping confirmed by DO. [SN]. Brody myopathy A neuromuscular disease is characterized by difficulty relaxing muscles and muscle stiffness following exercise or other strenuous activity and is located_in skeletal muscles. url:https://ghr.nlm.nih.gov/condition/brody-myopathy url:https://rarediseases.info.nih.gov/gard/9158/brody-myopathy/case/23360/case-questions snadendla 2011-06-17T04:34:10Z OMIM:605041 disease_ontology DOID:0050693 OMIM mapping confirmed by DO. [SN]. Brooke-Spiegler syndrome snadendla 2011-06-17T04:38:07Z OMIM:211530 disease_ontology DOID:0050694 OMIM mapping confirmed by DO. [SN]. Brown-Vialetto-Van Laere syndrome snadendla 2011-06-27T09:57:44Z disease_ontology DOID:0050695 malignant pleural solitary fibrous tumor A specific developmental disorder and physical disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of alcohol during pregnancy. lschriml 2011-12-01T01:01:25Z disease_ontology DOID:0050696 fetal alcohol spectrum disorder A specific developmental disorder and physical disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of alcohol during pregnancy. url:http://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder url:http://www.cdc.gov/ncbddd/fasd/facts.html A placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection. lschriml 2012-01-03T01:13:08Z disease_ontology DOID:0050697 chorioamnionitis A placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection. url:http://en.wikipedia.org/wiki/Chorioamnionitis url:http://www.merriam-webster.com/medlineplus/Chorioamnionitis A connective tissue disease that is an inflammation of the connective tissue of the umbilical cord. lschriml 2012-01-03T01:18:35Z disease_ontology DOID:0050698 funisitis A connective tissue disease that is an inflammation of the connective tissue of the umbilical cord. url:http://en.wikipedia.org/wiki/Funisitis A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure and has_material_basis_in X-linked recessive inheritance of mutations in the CLCN5 gene or OCRL1 gene. lschriml 2015-03-12T14:32:47Z MESH:C538212 MESH:C564487 MESH:D057973 NCI:C123260 OMIM:300009 OMIM:300555 ORDO:1652 SNOMEDCT_US_2016_03_01:444645005 UMLS_CUI:C0878681 UMLS_CUI:C1845167 UMLS_CUI:C1848336 Dent disease 1 Dent disease 2 Dent's disease disease_ontology DOID:0050699 Dent disease A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure and has_material_basis_in X-linked recessive inheritance of mutations in the CLCN5 gene or OCRL1 gene. url:http://en.wikipedia.org/wiki/Dent%27s_disease url:http://ghr.nlm.nih.gov/condition/dent-disease url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1652 A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle. lschriml 2012-01-03T02:54:11Z ICD10CM:I42 ICD10CM:I42.9 ICD10CM:I51.5 ICD9CM:425 ICD9CM:425.9 MESH:D009202 NCI:C34830 NCI:C53654 SNOMEDCT_US_2016_03_01:155351008 SNOMEDCT_US_2016_03_01:155353006 SNOMEDCT_US_2016_03_01:195035002 SNOMEDCT_US_2016_03_01:195037005 SNOMEDCT_US_2016_03_01:20072003 SNOMEDCT_US_2016_03_01:266244008 SNOMEDCT_US_2016_03_01:266301006 SNOMEDCT_US_2016_03_01:57809008 SNOMEDCT_US_2016_03_01:85898001 SNOMEDCT_US_2016_03_01:89461002 SNOMEDCT_US_2016_03_01:89600009 UMLS_CUI:C0033141 UMLS_CUI:C0036529 UMLS_CUI:C0878544 Cardiomyopathies disease_ontology DOID:0050700 MESH:D009202 added from NeuroDevNet [WAK]. cardiomyopathy A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle. url:http://en.wikipedia.org/wiki/Cardiomyopathy url:http://www.nhlbi.nih.gov/health/health-topics/topics/cm/ Cardiomyopathies MESH:D009202 An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep. lschriml 2012-04-11T11:42:46Z electro-clinical syndrome disease_ontology DOID:0050701 electroclinical syndrome An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep. url:http://www.ice-epilepsy.org/new-ice-terminology-from-ilae.html url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3267655/table/T1/ url:http://www.ncbi.nlm.nih.gov/pubmed/20196795 An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age. lschriml 2012-04-11T11:48:18Z disease_ontology DOID:0050702 neonatal period electroclinical syndrome An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age. JA:Epilepsy Genetics Kiel url:http://www.ncbi.nlm.nih.gov/pubmed/20196795 url:http://www.ncbi.nlm.nih.gov/pubmed/22182677 An electroclinical syndrome with onset in infancy occurring between birth and one year of age. lschriml 2012-04-11T11:48:18Z disease_ontology DOID:0050703 infancy electroclinical syndrome An electroclinical syndrome with onset in infancy occurring between birth and one year of age. JA:Epilepsy Genetics Kiel url:http://www.ncbi.nlm.nih.gov/pubmed/20196795 An electroclinical syndrome with onset in childhood between one and 12 years of age. lschriml 2012-04-11T11:48:18Z disease_ontology DOID:0050704 childhood electroclinical syndrome An electroclinical syndrome with onset in childhood between one and 12 years of age. JA:Epilepsy Genetics Kiel url:http://www.ncbi.nlm.nih.gov/pubmed/20196795 An electroclinical syndrome with onset in adolescence and adulthood. lschriml 2012-04-11T11:48:18Z disease_ontology DOID:0050705 adolescence-adult electroclinical syndrome An electroclinical syndrome with onset in adolescence and adulthood. JA:Epilepsy_Genetics_Kiel url:http://www.ncbi.nlm.nih.gov/pubmed/20196795 lschriml 2012-04-11T11:48:18Z disease_ontology DOID:0050706 variable age at onset electroclinical syndrome lschriml 2012-04-11T01:42:13Z disease_ontology DOID:0050707 nonsyndromic epilepsy true A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years. lschriml 2012-04-11T02:29:04Z disease_ontology DOID:0050708 early onset absence epilepsy A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years. JA:Epilepsy Genetics Kiel url:http://www.ilae-epilepsy.org A neonatoal period electroclinical syndrome that is characterized by tonic spasms and partial seizures. lschriml 2012-05-10T10:02:58Z OMIM:300088 OMIM:300607 OMIM:300672 OMIM:308350 OMIM:609304 OMIM:612164 OMIM:613402 OMIM:613477 OMIM:613720 OMIM:613721 OMIM:613722 OMIM:614558 OMIM:614959 OMIM:615006 OMIM:615338 OMIM:615473 OMIM:615476 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15 Early Infantile Epileptic Encephalopathy Early Infantile Epileptic Encephalopathy with Burst-Suppression disease_ontology DOID:0050709 Ohtahara syndrome A neonatoal period electroclinical syndrome that is characterized by tonic spasms and partial seizures. url:http://en.wikipedia.org/wiki/Ohtahara_syndrome url:http://www.ninds.nih.gov/disorders/ohtahara/ohtahara.htm An amino acid metabolic disorder that has_material_basis_in mutations in the MCCC1 and MCCC2 genes causing inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy. lschriml 2012-05-22T10:32:44Z OMIM:210200 OMIM:210210 3-Methylcrotonylglycinuria 3MCC deficiency BMCC deficiency disease_ontology DOID:0050710 3-Methylcrotonyl-CoA carboxylase deficiency An amino acid metabolic disorder that has_material_basis_in mutations in the MCCC1 and MCCC2 genes causing inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy. url:http://en.wikipedia.org/wiki/3-Methylcrotonyl-CoA_carboxylase_deficiency url:http://omim.org/entry/210200 An iron metabolism disease that has_material_basis_in a mutation in the ceruloplasmin gene characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus. lschriml 2012-05-22T11:47:25Z OMIM:604290 disease_ontology DOID:0050711 aceruloplasminemia An iron metabolism disease that has_material_basis_in a mutation in the ceruloplasmin gene characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus. url:http://en.wikipedia.org/wiki/Aceruloplasminemia url:http://omim.org/entry/604290?search=604290&highlight=604290 An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis. lschriml 2012-05-22T11:53:57Z OMIM:612718 CEREBRAL CREATINE DEFICIENCY SYNDROME 3 arginine:glycine amidinotransferase deficiency disease_ontology DOID:0050712 AGAT deficiency An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis. url:http://en.wikipedia.org/wiki/Arginine:glycine_amidinotransferase#Deficiency url:http://omim.org/entry/612718?search=AGAT%20deficiency&highlight=deficiency%20agat A mitochondrial metabolism disease that has_material_basis_in a mutation in the SCO2 gene which encodes a COX assembly factor and results in deficiency of cytochrome c oxidase. lschriml 2012-05-22T01:03:41Z OMIM:604377 OMIM:615119 ORDO:1561 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency fatal infantile COX deficiency fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency disease_ontology DOID:0050713 Xref MGI. fatal infantile encephalocardiomyopathy A mitochondrial metabolism disease that has_material_basis_in a mutation in the SCO2 gene which encodes a COX assembly factor and results in deficiency of cytochrome c oxidase. url:http://omim.org/entry/604377 A methylmalonic acidemia that has_material_basis_in deficiency in synthesis of both AdoCbl and MeCbl (cblC) and is characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase. lschriml 2012-05-23T03:26:25Z OMIM:277400 Cobalamin C deficiency disease_ontology DOID:0050715 methylmalonic aciduria and homocystinuria type cblC A methylmalonic acidemia that has_material_basis_in deficiency in synthesis of both AdoCbl and MeCbl (cblC) and is characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase. url:http://omim.org/entry/277400?search=METHYLMALONIC%20ACIDURIA&highlight=methylmalonic%20aciduria%20%22methylmalonic%20aciduria%22 A methylmalonic aciduria that is characterized by combined homocystinuria and methylmalonic aciduria and deficiency of MCM and MS activities. lschriml 2012-05-23T03:26:25Z OMIM:277410 Cobalamin D deficiency disease_ontology DOID:0050716 methylmalonic aciduria and homocystinuria type cblD A methylmalonic aciduria that is characterized by combined homocystinuria and methylmalonic aciduria and deficiency of MCM and MS activities. url:http://omim.org/entry/277410?search=METHYLMALONIC%20ACIDURIA&highlight=methylmalonic%20aciduria%20%22methylmalonic%20aciduria%22 url:http://www.ncbi.nlm.nih.gov/pubmed/18385497 A methylmalonic acidemia that is characterized by the accumulation of cobalamin in lysosomes which is then unable to synthesize the cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). lschriml 2012-05-23T03:26:25Z OMIM:277380 Cobalamin F deficiency disease_ontology DOID:0050717 methylmalonic aciduria and homocystinuria type cblF A methylmalonic acidemia that is characterized by the accumulation of cobalamin in lysosomes which is then unable to synthesize the cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). url:http://www.google.com/url?sa=t&rct=j&q=&esrc=s&source=web&cd=2&ved=0CFMQFjAB&url=http%3A%2F%2Fpreventiongenetics.com%2FClinicalTesting%2FTestDescriptions%2FLMBRD1.pdf&ei=hzv3T__xH4qk6wGIlqn2Bg&usg=AFQjCNEq6PEmU_PvWZSYQVIf2Uhf7Qxp7w&sig2=Ed-CTWsLgGVSkht-OW43gA An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism. lschriml 2012-06-11T02:44:53Z disease_ontology DOID:0050718 vitamin metabolic disorder An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism. url:http://en.wikipedia.org/wiki/Inborn_error_of_metabolism A vitamin metabolic disorder that has_material_basis_in mutations in the folate receptor 1 (FOLR1) gene coding for folate receptor alpha (FRalpha), is located_in the brain and is characterized by progressive movement disturbance, psychomotor decline, and epilepsy. lschriml 2012-06-11T02:58:59Z disease_ontology DOID:0050719 cerebral folate receptor alpha deficiency A vitamin metabolic disorder that has_material_basis_in mutations in the folate receptor 1 (FOLR1) gene coding for folate receptor alpha (FRalpha), is located_in the brain and is characterized by progressive movement disturbance, psychomotor decline, and epilepsy. url:http://en.wikipedia.org/wiki/B_vitamins url:http://www.ncbi.nlm.nih.gov/pubmed/19732866 An amino acid metabolic disorder that has_material_basis in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood. lschriml 2012-06-13T03:09:31Z OMIM:238970 HHH syndrome Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome disease_ontology DOID:0050720 ornithine translocase deficiency An amino acid metabolic disorder that has_material_basis in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood. url:http://en.wikipedia.org/wiki/Ornithine_translocase_deficiency url:http://rarediseases.info.nih.gov/GARD/Condition/2830/Ornithine_translocase_deficiency_syndrome.aspx An amino acid metabolic disorder that has_material_basis_in defects in the biosynthesis of the amino acid L-serine. lschriml 2012-06-13T03:09:31Z disease_ontology DOID:0050721 serine deficiency An amino acid metabolic disorder that has_material_basis_in defects in the biosynthesis of the amino acid L-serine. url:http://www.ncbi.nlm.nih.gov/pubmed/15021249 A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis. lschriml 2012-06-13T03:09:31Z OMIM:601815 PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY disease_ontology DOID:0050722 PHGDH deficiency A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis. url:http://en.wikipedia.org/wiki/Phosphoglycerate_dehydrogenase url:http://www.ncbi.nlm.nih.gov/pubmed?term=18296366 url:http://www.omim.org/entry/601815 A serine deficiency that has_material_basis_in deficiency of phosphoserine aminotransferase and is characterized by low concentartions of serine and flycine in plasma and cerebrospinal fluid. lschriml 2012-06-13T03:09:31Z OMIM:610992 Phosphoserine aminotransferase deficiency disease_ontology DOID:0050723 PSAT deficiency A serine deficiency that has_material_basis_in deficiency of phosphoserine aminotransferase and is characterized by low concentartions of serine and flycine in plasma and cerebrospinal fluid. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1852735/ url:http://www.omim.org/entry/610992?search=610992&highlight=610992 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284417 A serine deficiency that has_material_basis_in deficiency of phosphoserine phosphatase impeding the synthesis of L-serine. lschriml 2012-06-13T03:09:31Z OMIM:614023 PSPHD Phosphoserine phosphatase deficiency disease_ontology DOID:0050724 PSPH deficiency A serine deficiency that has_material_basis_in deficiency of phosphoserine phosphatase impeding the synthesis of L-serine. url:http://en.wikipedia.org/wiki/PSPH url:http://www.omim.org/entry/614023 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79350 A tyrosinemia that has_material_basis_in deficiency of hepatic tyrosine aminotransferase located_in the liver and is characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels. lschriml 2012-06-13T03:09:31Z OMIM:276600 Oculocutaneous tyrosinemia Richner-Hanhart syndrome disease_ontology DOID:0050725 tyrosinemia type II A tyrosinemia that has_material_basis_in deficiency of hepatic tyrosine aminotransferase located_in the liver and is characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels. url:http://en.wikipedia.org/wiki/Tyrosinemia_type_II url:http://www.omim.org/entry/276600?search=276600&highlight=276600 A tyrosinemia that has_material_basis_in deficiency of the enzyme fumarylacetoacetate hydrolase resulting in an increase in fumarylacetoacetate which inhibits previous steps in tyrosine degradation leading to an accumulation of tyrosine in the body. lschriml 2012-07-06T02:55:45Z OMIM:276700 hepatorenal tyrosinemia disease_ontology DOID:0050726 tyrosinemia type I A tyrosinemia that has_material_basis_in deficiency of the enzyme fumarylacetoacetate hydrolase resulting in an increase in fumarylacetoacetate which inhibits previous steps in tyrosine degradation leading to an accumulation of tyrosine in the body. url:http://en.wikipedia.org/wiki/Type_I_tyrosinemia A tyrosinemia that has_material_basis_in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine. lschriml 2012-07-06T02:55:45Z OMIM:276710 disease_ontology DOID:0050727 tyrosinemia type III A tyrosinemia that has_material_basis_in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine. url:http://en.wikipedia.org/wiki/Type_III_tyrosinemia url:http://www.omim.org/entry/276710?search=tyrosinemia&highlight=tyrosinemia A carbohydrate metabolism disorder that is characterized by abnormal accumulation or depletion of liver glycogen. lschriml 2012-07-13T10:42:54Z disease_ontology DOID:0050728 glycogen metabolism disorder A carbohydrate metabolism disorder that is characterized by abnormal accumulation or depletion of liver glycogen. url:http://en.wikipedia.org/wiki/Glycogen#Disorders_of_glycogen_metabolism A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues. lschriml 2012-07-17T12:31:48Z OMIM:275630 Chanarin-Dorfman syndrome disease_ontology DOID:0050729 neutral lipid storage disease A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues. url:http://en.wikipedia.org/wiki/Chanarin-Dorfman_syndrome A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis. lschriml 2012-07-17T12:58:37Z OMIM:607426 OMIM:612016 OMIM:614650 OMIM:614651 OMIM:614652 OMIM:614654 COENZYME Q10 DEFICIENCY, PRIMARY disease_ontology DOID:0050730 coenzyme Q10 deficiency disease A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis. url:http://en.wikipedia.org/wiki/Coenzyme_Q10#CoQ10_deficiency_and_toxicity A vitamin metabolic disorder that results from low blood levels of vitamin B12. lschriml 2012-07-17T01:01:29Z cobalamin deficiency hypocobalaminemia disease_ontology DOID:0050731 vitamin B12 deficiency A vitamin metabolic disorder that results from low blood levels of vitamin B12. url:http://en.wikipedia.org/wiki/B12_deficiency lschriml 2012-07-17T01:42:35Z disease_ontology DOID:0050732 methylmalonic aciduria and homocystinuria type cblE lschriml 2012-07-17T01:42:35Z disease_ontology DOID:0050733 methylmalonic aciduria and homocystinuria type cblG A vitamin B12 deficiency that is characterized by megaloblastic anemia due to the absence of gastric intrinsic factor which results in abnormal vitamin B12 absorption. lschriml 2012-07-17T01:52:57Z OMIM:261000 hereditary intrinsic factor deficiency disease_ontology DOID:0050734 congenital intrinsic factor deficiency A vitamin B12 deficiency that is characterized by megaloblastic anemia due to the absence of gastric intrinsic factor which results in abnormal vitamin B12 absorption. url:http://omim.org/entry/261000?search=261000&highlight=261000 url:http://www.ncbi.nlm.nih.gov/pubmed/14695536 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=332 A monogenic disease that has_material_basis_in muations in genes on the X chromosome. lschriml 2012-07-24T12:47:31Z disease_ontology DOID:0050735 X-linked disease A monogenic disease that has_material_basis_in muations in genes on the X chromosome. url:http://en.wikipedia.org/wiki/Genetic_disorder#X-linked_dominant url:http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease. lschriml 2012-07-24T12:51:47Z disease_ontology DOID:0050736 autosomal dominant disease An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease. url:http://ghr.nlm.nih.gov/glossary=autosomaldominant url:http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns url:http://www.nlm.nih.gov/medlineplus/ency/article/002049.htm An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. lschriml 2012-07-24T12:51:47Z disease_ontology DOID:0050737 autosomal recessive disease An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. url:http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns url:http://www.nlm.nih.gov/medlineplus/ency/article/002052.htm A monogenic disease that has_material_basis_in muations on the Y chromosome. lschriml 2012-07-24T12:51:47Z disease_ontology DOID:0050738 Y-linked disease A monogenic disease that has_material_basis_in muations on the Y chromosome. url:http://en.wikipedia.org/wiki/Genetic_disorder#Y-linked A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes. lschriml 2012-07-24T04:45:53Z disease_ontology DOID:0050739 autosomal genetic disease A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes. url:http://ghr.nlm.nih.gov/glossary=autosomaldominant url:http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns A syndrome that is characterized by hypotonia, congenital fiber type disproportion and dysharmonic skeletal maturation. lschriml 2012-08-10T01:08:47Z OMIM:600096 Dysharmonic skeletal maturation - muscular fibre disproportion Qazi-Markouizos syndrome disease_ontology DOID:0050740 Qazi Markouizos syndrome A syndrome that is characterized by hypotonia, congenital fiber type disproportion and dysharmonic skeletal maturation. url:http://omim.org/entry/600096 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3010 lschriml 2012-09-05T11:48:42Z EFO:0003829 KEGG:05034 MESH:D010610 NCI:C3325 OMIM:103780 SNOMEDCT_US_2016_03_01:126685009 SNOMEDCT_US_2016_03_01:95001001 UMLS_CUI:C0031347 alcoholism disease_ontology DOID:0050741 alcohol dependence lschriml 2012-09-05T11:48:42Z EFO:0003768 ICD10CM:F17 ICD10CM:F17.2 ICD10CM:F17.20 MESH:D014029 NCI:C54203 OMIM:188890 SNOMEDCT_US_2016_03_01:56294008 UMLS_CUI:C0028043 tobacco use disorder disease_ontology DOID:0050742 nicotine dependence tobacco use disorder NSH:D014029 A non-Hodgkin lymphoma that has_material_basis_in mature T lymphocytes and natural killer cells. lschriml 2012-09-18T01:56:52Z NK-T cell lymphoma mature T-cell and natural killer cell lymphoma disease_ontology DOID:0050743 mature T-cell and NK-cell lymphoma A non-Hodgkin lymphoma that has_material_basis_in mature T lymphocytes and natural killer cells. url:http://www.cancer.gov/dictionary?CdrID=393800 url:http://www.cancer.gov/dictionary?CdrID=44062 url:http://www.ncbi.nlm.nih.gov/pubmed/21919697 A non-Hodgkin lymphoma involving aberrant T-cells. lschriml 2012-09-18T01:57:40Z disease_ontology DOID:0050744 anaplastic large cell lymphoma A non-Hodgkin lymphoma involving aberrant T-cells. url:http://en.wikipedia.org/wiki/Anaplastic_large-cell_lymphoma#Epidemiology A B-cell lymphoma that is a cancer of B cells presenting as an aggressive tumour which can arise in virtually any part of the body. lschriml 2012-09-18T01:58:25Z disease_ontology DOID:0050745 diffuse large B-cell lymphoma A B-cell lymphoma that is a cancer of B cells presenting as an aggressive tumour which can arise in virtually any part of the body. url:http://en.wikipedia.org/wiki/Diffuse_large_B-cell_lymphoma A B-cell lymphocytic neoplasm due to CD5 positive antigen-naive pregerminal center B-cell within the mantle zone that surrounds normal germinal center follicles. lschriml 2012-09-18T02:00:45Z MESH:D020522 disease_ontology DOID:0050746 mantle cell lymphoma A B-cell lymphocytic neoplasm due to CD5 positive antigen-naive pregerminal center B-cell within the mantle zone that surrounds normal germinal center follicles. url:http://en.wikipedia.org/wiki/Mantle_cell_lymphoma A B-cell lymphocytic neoplasm characterized by an uncontrolled increase of B-cells. lschriml 2012-09-18T02:00:45Z ICD10CM:C88.0 ICD9CM:273.3 MESH:D008258 NCI:C115212 NCI:C80307 OMIM:153600 OMIM:610430 ORDO:33226 SNOMEDCT_US_2016_03_01:109981009 SNOMEDCT_US_2016_03_01:154750002 SNOMEDCT_US_2016_03_01:190014001 SNOMEDCT_US_2016_03_01:190817009 SNOMEDCT_US_2016_03_01:190818004 SNOMEDCT_US_2016_03_01:190821002 SNOMEDCT_US_2016_03_01:267503004 SNOMEDCT_US_2016_03_01:35562000 UMLS_CUI:C0024419 UMLS_CUI:C2936755 disease_ontology DOID:0050747 Xref MGI. lymphoplasmacytic lymphoma A B-cell lymphocytic neoplasm characterized by an uncontrolled increase of B-cells. url:http://en.wikipedia.org/wiki/Lymphoplasmacytic_lymphoma A B-cell lymphoma that is characterized by initial formation in the marginal zones of lymph tissue. lschriml 2012-09-18T02:00:45Z marginal zone lymphoma disease_ontology DOID:0050748 marginal zone B-cell lymphoma A B-cell lymphoma that is characterized by initial formation in the marginal zones of lymph tissue. url:http://en.wikipedia.org/wiki/Marginal_zone_B-cell_lymphoma url:http://www.cancer.gov/dictionary?CdrID=562554 A mature T-cell and NK-cell lymphoma includes a group of T-cell lymphomas that develop away from the thymus. lschriml 2012-09-18T02:01:49Z disease_ontology DOID:0050749 peripheral T-cell lymphoma A mature T-cell and NK-cell lymphoma includes a group of T-cell lymphomas that develop away from the thymus. url:http://en.wikipedia.org/wiki/Peripheral_T-cell_lymphoma A marginal zone B-cell lymphocyte located_in the spleen comprised of B-cells in place of white pulp. lschriml 2012-09-18T02:03:06Z disease_ontology DOID:0050750 splenic marginal zone lymphoma A marginal zone B-cell lymphocyte located_in the spleen comprised of B-cells in place of white pulp. url:http://en.wikipedia.org/wiki/Splenic_marginal_zone_lymphoma A chronic lymphocytic leukemia that exhibits an unexplained, chronic (> 6 months) elevation in large granular lymphocytes (LGLs) in the peripheral blood. lschriml 2012-09-18T02:05:41Z Large granular lymphocytic leukemia disease_ontology DOID:0050751 T-cell large granular lymphocyte leukemia A chronic lymphocytic leukemia that exhibits an unexplained, chronic (> 6 months) elevation in large granular lymphocytes (LGLs) in the peripheral blood. url:http://en.wikipedia.org/wiki/T-cell_large_granular_lymphocyte_leukemia An amyotrophic lateral sclerosis that has material basis in mutation in the VAPB gene on chromosome 20. OMIM:608627 ALS8 amyotrophic lateral sclerosis 8 disease_ontology DOID:0050752 amyotrophic lateral sclerosis type 8 An amyotrophic lateral sclerosis that has material basis in mutation in the VAPB gene on chromosome 20. url:http://omim.org/entry/608627 utl:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis ALS8 OMIM:608627 amyotrophic lateral sclerosis 8 OMIM:608627 A cerebellar disease characterized by ataxia originating in the cerebellum. lschriml 2013-01-16T01:07:02Z disease_ontology DOID:0050753 cerebellar ataxia A cerebellar disease characterized by ataxia originating in the cerebellum. url:http://en.wikipedia.org/wiki/Cerebellar_ataxia lschriml 2013-01-16T01:07:02Z OMIM:208920 disease_ontology DOID:0050754 ataxia with oculomotor apraxia type 1 lschriml 2013-01-16T01:07:02Z disease_ontology DOID:0050755 ataxia with oculomotor apraxia type 2 lschriml 2013-01-16T01:15:03Z juvenile neuronal ceroid lipofuscinosis disease_ontology DOID:0050756 Batten disease A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems. lschriml 2013-01-16T01:20:50Z OMIM:304700 Deafness Dystonia Optic Atrophy Syndrome Deafness Dystonia Optic Neuronopathy Syndrome (DDON) Dystonia Deafness Syndrome Mohr-Tranebjaerg Syndrome disease_ontology DOID:0050757 deafness dystonia syndrome A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems. url:http://en.wikipedia.org/wiki/Mohr%E2%80%93Tranebj%C3%A6rg_syndrome url:http://ghr.nlm.nih.gov/condition/deafness-dystonia-optic-neuronopathy-syndrome url:http://omim.org/entry/304700 url:http://www.ncbi.nlm.nih.gov/books/NBK1216/ A lactic acidosis that has_material_basis_in high levels of acid. lschriml 2013-01-16T01:23:37Z disease_ontology DOID:0050758 metabolic acidosis A lactic acidosis that has_material_basis_in high levels of acid. url:http://en.wikipedia.org/wiki/Metabolic_acidosis A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_physical_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one. lschriml 2013-01-16T01:27:31Z ICD10CM:G71.1 ICD10CM:G71.19 ICD9CM:359.2 MESH:D020967 NCI:C122789 NCI:C122790 NCI:C84913 OMIM:602668 SNOMEDCT_US_2016_03_01:155096007 SNOMEDCT_US_2016_03_01:193237003 SNOMEDCT_US_2016_03_01:193240003 SNOMEDCT_US_2016_03_01:267713009 SNOMEDCT_US_2016_03_01:41574007 UMLS_CUI:C0221055 UMLS_CUI:C0553604 UMLS_CUI:C0752355 proximal myotonic myopathy disease_ontology DOID:0050759 myotonic dystrophy type 2 A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_physical_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one. url:http://ghr.nlm.nih.gov/condition/myotonic-dystrophy url:http://omim.org/entry/602668 url:http://www.ncbi.nlm.nih.gov/books/NBK1466/ url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=545&Disease_Disease_Search_diseaseGroup=606&Disease_Disease_Search_diseaseType=ORPHA&Disease(s)/group%20of%20diseases=Myotonic-dystrophy-type-2&title=Myotonic-dystrophy-type-2&search=Disease_Search_Simple lschriml 2013-01-16T01:29:01Z XMEA disease_ontology DOID:0050760 X-linked myopathy with excessive autophagy lschriml 2013-01-16T01:30:21Z disease_ontology DOID:0050761 paramyloidosis lschriml 2013-01-17T12:42:58Z disease_ontology DOID:0050762 adenylosuccinase lyase deficiency A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis, and a defect in platelet alpha-granule biogenesis. It has material basis in homozygous or compound heterozygous mutation in the VPS33B gene or has masterial basis in homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3. lschriml 2013-01-17T12:46:38Z OMIM:208085 OMIM:613404 ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome Arthrogryposis-renal dysfunction-cholestasis disease_ontology DOID:0050763 ARC syndrome A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis, and a defect in platelet alpha-granule biogenesis. It has material basis in homozygous or compound heterozygous mutation in the VPS33B gene or has masterial basis in homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3. url:http://en.wikipedia.org/wiki/Arthrogryposis%E2%80%93renal_dysfunction%E2%80%93cholestasis_syndrome url:http://omim.org/entry/208085 url:http://omim.org/entry/613404 url:http://www.ncbi.nlm.nih.gov/pubmed/16896922 url:http://www.ncbi.nlm.nih.gov/pubmed/22753090 url:http://www.ncbi.nlm.nih.gov/pubmed/24415890 url:http://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=2697 A syndromic X-linked intellectual disability characterized by intellectual disability, short stature, seizures, and small hands and feet and in some cases cleft palate or cataracts/glaucoma that has_material_basis_in variation in the chromosomal region Xq28. lschriml 2013-01-17T12:48:15Z ICD10CM:Q87.8 OMIM:300261 ORDO:85276 Armfield X-linked mental retardation syndrome MRXSA X-linked intellectual disability, Armfield type mental retardation syndrome, X-linked, Armfield type syndromic X-linked mental retardation Armfield type disease_ontology DOID:0050764 Armfield syndrome A syndromic X-linked intellectual disability characterized by intellectual disability, short stature, seizures, and small hands and feet and in some cases cleft palate or cataracts/glaucoma that has_material_basis_in variation in the chromosomal region Xq28. url:https://www.ncbi.nlm.nih.gov/pubmed/10398235 Armfield X-linked mental retardation syndrome OMIM:300261 lschriml 2013-01-17T12:54:19Z disease_ontology DOID:0050765 neuroacanthocytosis A neuroacanthocytosis that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13A gene, which encodes chorein, on chromosome 9q21; it is characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life. lschriml 2013-01-17T12:54:19Z ICD10CM:E78.6 OMIM:200150 ORDO:2388 UMLS_CUI:C0393576 Levine-Critchley syndrome choreoacanthocytosis disease_ontology DOID:0050766 chorea-acanthocytosis A neuroacanthocytosis that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13A gene, which encodes chorein, on chromosome 9q21; it is characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life. url:https://en.wikipedia.org/wiki/Chorea_acanthocytosis url:https://www.ncbi.nlm.nih.gov/pubmed/9382101 lschriml 2013-02-21T11:19:14Z disease_ontology DOID:0050767 midface dysplasia A mitochondrial metabolism disease that has material basis in mutation in the ATPAF2 gene on chromosome 17p11. lschriml 2013-02-21T11:26:46Z ICD10CM:E88.8 OMIM:604273 ORDO:254913 MC5DN1 disease_ontology DOID:0050768 mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 A mitochondrial metabolism disease that has material basis in mutation in the ATPAF2 gene on chromosome 17p11. url:http://omim.org/entry/604273 lschriml 2013-02-21T11:32:26Z OMIM:310465 ORDO:2608 NSX disease_ontology DOID:0050769 N syndrome NSX OMIM:310465 lschriml 2013-02-21T11:36:13Z OMIM:174050 disease_ontology DOID:0050770 polycystic liver disease lschriml 2013-02-21T11:40:58Z OMIM:171300 disease_ontology DOID:0050771 phaeochromocytoma lschriml 2015-09-17T14:42:06Z OMIM:108600 disease_ontology DOID:0050772 spastic ataxia 1 lschriml 2013-02-21T11:51:57Z MESH:D010235 NCI:C3308 OMIM:115310 OMIM:168000 OMIM:601650 OMIM:605373 OMIM:614165 SNOMEDCT_US_2016_03_01:127027008 SNOMEDCT_US_2016_03_01:189743009 SNOMEDCT_US_2016_03_01:253029009 SNOMEDCT_US_2016_03_01:302833002 SNOMEDCT_US_2016_03_01:72787006 SNOMEDCT_US_2016_03_01:803009 UMLS_CUI:C0030421 chemodectoma disease_ontology DOID:0050773 Xref MGI. paraganglioma lschriml 2013-02-21T11:56:15Z OMIM:266280 disease_ontology DOID:0050774 rapadilino syndrome lschriml 2013-02-21T12:00:39Z OMIM:269250 disease_ontology DOID:0050775 schneckenbecken dysplasia A non-syndromic intellectual disability characterized by a X-linked inheritance pattern. lschriml 2013-02-21T12:06:40Z OMIM:300046 OMIM:300047 OMIM:300062 OMIM:300114 OMIM:300115 OMIM:300143 OMIM:300210 OMIM:300271 OMIM:300324 OMIM:300355 OMIM:300372 OMIM:300387 OMIM:300428 OMIM:300433 OMIM:300436 OMIM:300454 OMIM:300498 OMIM:300504 OMIM:300505 OMIM:300518 OMIM:300558 OMIM:300577 OMIM:300659 OMIM:300716 OMIM:300802 OMIM:300803 OMIM:300844 OMIM:300848 OMIM:300849 OMIM:300850 OMIM:300851 OMIM:300852 OMIM:300912 OMIM:300919 OMIM:300923 OMIM:309530 OMIM:309549 ORDO:777 non-specific X-linked mental retardation disease_ontology DOID:0050776 Xref MGI. non-syndromic X-linked intellectual disability A non-syndromic intellectual disability characterized by a X-linked inheritance pattern. url:http://www.ncbi.nlm.nih.gov/pubmed/7011032 A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. lschriml 2013-04-04T11:25:32Z ICD10CM:Q04.3 OMIM:PS213300 ORDO:475 JBTS disease_ontology DOID:0050777 Xref MGI. Joubert syndrome A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. url:http://en.wikipedia.org/wiki/Joubert_syndrome url:http://omim.org/entry/213300?search=joubert&highlight=joubert url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=1022&Disease_Disease_Search_diseaseGroup=Joubert-syndrome&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Joubert-syndrome--Joubert-Boltshauser-syndrome-&title=Joubert-syndrome--Joubert-Boltshauser-syndrome-&search=Disease_Search_Simple A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia. lschriml 2013-04-04T11:28:16Z ICD9CM:753.1 ICD9CM:753.10 OMIM:249000 OMIM:267010 OMIM:603194 OMIM:607361 OMIM:611134 OMIM:611561 OMIM:612284 OMIM:613885 OMIM:614175 OMIM:614209 OMIM:615397 ORDO:564 SNOMEDCT_US_2016_03_01:204954005 SNOMEDCT_US_2016_03_01:204966004 SNOMEDCT_US_2016_03_01:236440007 SNOMEDCT_US_2016_03_01:82525005 UMLS_CUI:C0311245 Meckel-Gruber syndrome disease_ontology DOID:0050778 Xref MGI. Meckel syndrome A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia. url:http://en.wikipedia.org/wiki/Meckel_syndrome url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/661/viewAbstract An autosomal recessive disease characterized by mulitple fetal developmental defects including polydactyly and central nervous system malformations that results from a single amino acid mutation of D211G of the HYLS1 gene which plays a central role in cilia formation. lschriml 2013-06-24T12:50:06Z ICD10CM:Q87.8 OMIM:236680 OMIM:614120 ORDO:2189 Salonen-Herva-Norio syndrome disease_ontology DOID:0050779 Xref MGI. hydrolethalus syndrome An autosomal recessive disease characterized by mulitple fetal developmental defects including polydactyly and central nervous system malformations that results from a single amino acid mutation of D211G of the HYLS1 gene which plays a central role in cilia formation. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1017280/?page=1 url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2751977/#B33 url:http://www.ncbi.nlm.nih.gov/pubmed/15843405 A monogenic disease that is characterized by hypertelorism, hypospadias, and additional midline defects resulting from mutations to the MID1 gene in the X-linked form or from a deletion on chromosome 22q11.2 in the autosomal dominant form. lschriml 2013-06-24T01:18:03Z KEGG:H00583 OMIM:145410 OMIM:300000 Opitz G/BBB Syndrome disease_ontology DOID:0050780 Opitz-GBBB syndrome A monogenic disease that is characterized by hypertelorism, hypospadias, and additional midline defects resulting from mutations to the MID1 gene in the X-linked form or from a deletion on chromosome 22q11.2 in the autosomal dominant form. url:http://www.genome.jp/dbget-bin/www_bget?ds:H00583 url:http://www.ncbi.nlm.nih.gov/books/NBK1327/ url:http://www.ncbi.nlm.nih.gov/books/NBK1523/ url:http://www.omim.org/entry/145410?search=Opitz-GBBB%20syndrome&highlight=syndromic%20syndrome%20opitzgbbb An X-linked disease resulting from a deficiency in N-terminal acetyltransferase, characterized by postnatal growth failure with severe delays and dysmorphic features in boys. lschriml 2013-07-17T10:18:00Z OMIM:300855 N-alpha-acetyltransferase N-terminal acetyltransferase deficiency OGDNS X-linked Malformation and Infantile Lethality Syndrome disease_ontology DOID:0050781 Ogden syndrome An X-linked disease resulting from a deficiency in N-terminal acetyltransferase, characterized by postnatal growth failure with severe delays and dysmorphic features in boys. url:http://en.wikipedia.org/wiki/N-acetyltransferase url:http://en.wikipedia.org/wiki/NatA_Acetyltransferase url:http://rarediseases.info.nih.gov/gard/188/n-acetyltransferase-deficiency/resources/1 url:http://repository.cshl.edu/id/eprint/27483 url:http://www.nature.com/news/2011/110623/full/news.2011.382.html url:http://www.ncbi.nlm.nih.gov/gene/8260 url:http://www.ncbi.nlm.nih.gov/pubmed/21700266 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=276432 url:www.omim.org/entry/300855?search=300855 A syndrome that is haracterized by the development of a one or more tumors (gastrinoma) in the pancreas, duodenum, or both that secrete excessive levels of gastrin, a hormone that stimulates production of acid by the stomach. lschriml 2013-10-23T12:51:49Z ICD10CM:E16.4 MESH:D015043 NCI:C3453 SNOMEDCT_US_2016_03_01:154694003 SNOMEDCT_US_2016_03_01:190443003 SNOMEDCT_US_2016_03_01:267477002 SNOMEDCT_US_2016_03_01:53132006 UMLS_CUI:C0043515 disease_ontology DOID:0050782 Zollinger-Ellison syndrome A syndrome that is haracterized by the development of a one or more tumors (gastrinoma) in the pancreas, duodenum, or both that secrete excessive levels of gastrin, a hormone that stimulates production of acid by the stomach. url:http://digestive.niddk.nih.gov/ddiseases/pubs/zollinger/ url:http://en.wikipedia.org/wiki/Zollinger-Ellison_Syndrome url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/360/viewAbstract A multiple sclerosis that is characterised by a worsening of disability, rather than by relapses followed by recovery, which progressively worsens until a steady progression of disability replaces the cycles of attacks. lschriml 2013-11-07T11:22:49Z MESH:D020528 SNOMEDCT_US_2016_03_01:425500002 UMLS_CUI:C0751965 SPMS Secondary-progressive MS disease_ontology DOID:0050783 secondary progressive multiple sclerosis A multiple sclerosis that is characterised by a worsening of disability, rather than by relapses followed by recovery, which progressively worsens until a steady progression of disability replaces the cycles of attacks. url:http://www.mayoclinic.org/multiple-sclerosis/types.html url:http://www.mssociety.org.uk/what-is-ms/types-of-ms/secondary-progressive-spms A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous. lschriml 2013-11-07T11:26:58Z MESH:D020528 SNOMEDCT_US_2016_03_01:428700003 UMLS_CUI:C0751964 PPMS Primary-progressive MS disease_ontology DOID:0050784 primary progressive multiple sclerosis A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous. url:http://www.mayoclinic.org/multiple-sclerosis/types.html url:http://www.nationalmssociety.org/about-multiple-sclerosis/progressive-ms/primary-progressive-ms/index.aspx A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset. lschriml 2013-11-07T11:32:37Z MESH:D020528 SNOMEDCT_US_2016_03_01:230374002 UMLS_CUI:C0393666 PRMS Progressive-relapsing MS disease_ontology DOID:0050785 progressive relapsing multiple sclerosis A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset. url:http://www.mayoclinic.org/multiple-sclerosis/types.html url:http://www.nationalmssociety.org/about-multiple-sclerosis/progressive-ms/progressive-relapsing-ms/index.aspx An autosomal dominant disease that is characterized by the iris stroma being hypoplastic resulting from abnormalities in the differentiation of the anterior segment structures and increased values of intraocular pressure and has_material_basis_in autosomal dominant inheritance of mutations in the PITX2 gene. lschriml 2013-11-12T10:28:51Z OMIM:137600 OMIM:601631 ORDO:98634 IGDS IRID 1 IRID 2 iridogoniodysgenesis type 1 iridogoniodysgenesis type 2 disease_ontology DOID:0050786 Xref MGI. iridogoniodysgenesis syndrome An autosomal dominant disease that is characterized by the iris stroma being hypoplastic resulting from abnormalities in the differentiation of the anterior segment structures and increased values of intraocular pressure and has_material_basis_in autosomal dominant inheritance of mutations in the PITX2 gene. url:http://disorders.eyes.arizona.edu/category/alternate-names/iridogoniodysgenesis-syndrome url:http://rarediseases.info.nih.gov/gard/3026/disease/resources/1 url:http://www.ncbi.nlm.nih.gov/pubmed/19175065 An autosomal dominant disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum. lschriml 2013-11-12T11:25:28Z OMIM:174900 disease_ontology DOID:0050787 juvenile polyposis syndrome An autosomal dominant disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum. url:http://ghr.nlm.nih.gov/condition/juvenile-polyposis-syndrome url:http://www.cancer.net/cancer-types/juvenile-polyposis-syndrome url:http://www.ncbi.nlm.nih.gov/books/NBK1469/ An autosomal dominant disease that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness. lschriml 2013-11-12T11:43:22Z KEGG:H00484 OMIM:185800 Cushing's symphalangism disease_ontology DOID:0050788 proximal symphalangism An autosomal dominant disease that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness. url:http://omim.org/entry/185800?search=185800&highlight=185800 url:http://rarediseases.info.nih.gov/gard/8182/cushings-symphalangism/resources/1 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3250 An autosomal dominant disease that is characterized by fusion of the carpals, tarsals, and phalanges, short first metacarpals causing brachydactyly; and humeroradial fusion. lschriml 2013-11-12T11:50:00Z OMIM:186570 disease_ontology DOID:0050789 tarsal-carpal coalition syndrome An autosomal dominant disease that is characterized by fusion of the carpals, tarsals, and phalanges, short first metacarpals causing brachydactyly; and humeroradial fusion. url:http://ghr.nlm.nih.gov/condition/tarsal-carpal-coalition-syndrome url:http://omim.org/entry/186570?search=186570&highlight=186570 url:http://rarediseases.info.nih.gov/gard/9225/tarsal-carpal-coalition-syndrome/resources/1 url:http://www.ncbi.nlm.nih.gov/pubmed/22326510 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1412 An autosomal recessive disease that is characterised by severe reduction or absence of the fibula and complex brachydactyly. lschriml 2013-11-12T12:21:56Z KEGG:H00467 OMIM:228900 Du Pan syndrome disease_ontology DOID:0050790 fibular hypoplasia and complex brachydactyly An autosomal recessive disease that is characterised by severe reduction or absence of the fibula and complex brachydactyly. url:http://omim.org/entry/228900?search=228900&highlight=228900 url:http://www.ncbi.nlm.nih.gov/pubmed/16222676 url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2413&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=2639&Disease%28s%29/group%20of%20diseases=Du-Pan-syndrome&title=Du-Pan-syndrome&search=Disease_Search_Simple A pseudohermaphroditism that is characterized by the persistence of Mullerian duct derivatives (i.e. uterus, cervix, fallopian tubes and upper two thirds of vagina) in a phenotypically and karyotypically male. lschriml 2013-11-12T12:26:49Z MESH:C536665 NCI:C120188 OMIM:261550 SNOMEDCT_US_2016_03_01:702358005 UMLS_CUI:C1849930 persistent Muellerian duct syndrome disease_ontology DOID:0050791 persistent Mullerian duct syndrome A pseudohermaphroditism that is characterized by the persistence of Mullerian duct derivatives (i.e. uterus, cervix, fallopian tubes and upper two thirds of vagina) in a phenotypically and karyotypically male. url:http://ghr.nlm.nih.gov/condition/persistent-mullerian-duct-syndrome url:http://omim.org/entry/261550?search=261550&highlight=261550 url:http://www.ncbi.nlm.nih.gov/pubmed/20352001 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2856 An autosomal dominant disease that is characterized by multiple bluish cutaneous or mucosal venous lesions. lschriml 2013-11-12T12:38:33Z OMIM:600195 disease_ontology DOID:0050792 multiple cutaneous and mucosal venous malformations An autosomal dominant disease that is characterized by multiple bluish cutaneous or mucosal venous lesions. url:http://ghr.nlm.nih.gov/condition/multiple-cutaneous-and-mucosal-venous-malformations url:http://omim.org/entry/600195?search=600195&highlight=600195 url:http://www.ncbi.nlm.nih.gov/pubmed/20301733 A heart conduction disease that is characterized by heart arrhythmia defined as a short QT interval on an EKG (less than 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart. lschriml 2013-11-12T12:59:42Z OMIM:609620 OMIM:609621 OMIM:609622 disease_ontology DOID:0050793 short QT syndrome A heart conduction disease that is characterized by heart arrhythmia defined as a short QT interval on an EKG (less than 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart. url:http://en.wikipedia.org/wiki/Short_QT_syndrome url:http://ghr.nlm.nih.gov/condition/short-qt-syndrome url:http://omim.org/entry/609620?search=SHORT%20QT%20SYNDROME&highlight=syndromic%20short%20qt%20syndrome url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=51083 A dysostosis that is characterized by premature joint ankylosis and has_material_basis_in autosomal dominant inhertitance. lschriml 2013-11-12T01:08:42Z OMIM:186500 OMIM:610017 OMIM:612961 disease_ontology DOID:0050794 multiple synostoses syndrome A dysostosis that is characterized by premature joint ankylosis and has_material_basis_in autosomal dominant inhertitance. url:http://rarediseases.info.nih.gov/gard/3836/disease/resources/1 url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2706969/ url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=3237 A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision. lschriml 2013-11-12T01:19:22Z OMIM:180020 OMIM:610024 OMIM:610356 OMIM:610478 OMIM:613093 retinal cone dystrophy disease_ontology DOID:0050795 cone dystrophy A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision. url:http://en.wikipedia.org/wiki/Cone_dystrophy url:http://rarediseases.org/rare-disease-information/rare-diseases/byID/847/viewAbstract url:http://www.ncbi.nlm.nih.gov/books/NBK1418/ An autosomal recessive disease that is characterized by microcephaly, intellectual deficit and early onset symptoms of achalasia (abnormal enlargement of the esophagus, impaired peristalsis, cardiospasm, recurrent vomiting and respiratory infections). lschriml 2013-11-20T03:01:06Z MESH:C536010 OMIM:200450 UMLS_CUI:C1860212 ACHALASIA-MICROCEPHALY SYNDROME Achalasia microcephaly disease_ontology DOID:0050796 achalasia microcephaly syndrome An autosomal recessive disease that is characterized by microcephaly, intellectual deficit and early onset symptoms of achalasia (abnormal enlargement of the esophagus, impaired peristalsis, cardiospasm, recurrent vomiting and respiratory infections). url:http://omim.org/entry/200450 url:http://rarediseases.info.nih.gov/gard/456/disease/resources/1 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=929&lng=EN A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy. lschriml 2013-11-21T10:47:41Z MESH:C536662 OMIM:264470 UMLS_CUI:C1849678 Peroxisomal acyl-coenzyme A oxidase disease_ontology DOID:0050797 peroxisomal acyl-CoA oxidase deficiency A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy. url:http://www.ncbi.nlm.nih.gov/pubmed/11815777 url:http://www.ncbi.nlm.nih.gov/pubmed/17458872 url:http://www.ncbi.nlm.nih.gov/pubmed/18536048 url:http://www.omim.org/entry/264470 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2971 lschriml 2013-11-21T12:10:58Z disease_ontology DOID:0050798 cerebral creatine deficiency syndrome lschriml 2013-11-21T12:10:58Z OMIM:612736 CEREBRAL CREATINE DEFICIENCY SYNDROME 2 GAMT deficiency disease_ontology DOID:0050799 guanidinoacetate methyltransferase deficiency lschriml 2013-11-21T12:10:58Z OMIM:300352 CEREBRAL CREATINE DEFICIENCY SYNDROME 1 SLC6A8 deficiency disease_ontology DOID:0050800 creatine transporter deficiency lschriml 2013-11-21T12:48:07Z OMIM:109200 OMIM:300710 OMIM:612421 alopecia androgenetica, male pattern baldness androgenetic alopecia disease_ontology DOID:0050801 androgenic alopecia An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene. lschriml 2013-12-02T11:55:24Z MESH:C536201 OMIM:130070 OMIM:615349 ORDO:75496 UMLS_CUI:C1869122 EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 disease_ontology XGPT deficiency defective biosynthesis of proteodermatan sulfate xylosylprotein 4-beta-galactosyltransferase deficiency DOID:0050802 Ehlers-Danlos syndrome progeroid type An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene. url:http://www.nlm.nih.gov/medlineplus/ency/article/001468.htm url:http://www.omim.org/entry/615349?search=130070&highlight=130070 url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=11083&MISSING%20CONTENT=Ehlers-Danlos-syndrome--progeroid-type&search=Disease_Search_Simple&title=Ehlers-Danlos-syndrome--progeroid-type A glioblastoma multiforme that is characterized by abnormally high levels of epidermal growth factor receptor and the absence of p53 mutations. lschriml 2013-12-02T12:40:57Z disease_ontology DOID:0050803 glioblastoma classical subtype A glioblastoma multiforme that is characterized by abnormally high levels of epidermal growth factor receptor and the absence of p53 mutations. url:http://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes url:http://www.ncbi.nlm.nih.gov/pubmed/20129251 url:http://www.ncbi.nlm.nih.gov/pubmed/23029035 url:http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0045475 A glioblastoma multiforme that is characterized by IDH1 and p53 mutations and Platelet Derived Growth Factor A amplification. lschriml 2013-12-02T12:40:57Z disease_ontology DOID:0050804 glioblastoma proneural subtype A glioblastoma multiforme that is characterized by IDH1 and p53 mutations and Platelet Derived Growth Factor A amplification. url:http://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes url:http://www.ncbi.nlm.nih.gov/pubmed/20129251 url:http://www.ncbi.nlm.nih.gov/pubmed/23029035 A glioblastoma multiforme that is characterized by the most frequent number of mutation of the Neurofibromin 1 gene. lschriml 2013-12-02T12:40:57Z disease_ontology DOID:0050805 glioblastoma mesenchymal subtype A glioblastoma multiforme that is characterized by the most frequent number of mutation of the Neurofibromin 1 gene. url:http://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes url:http://www.ncbi.nlm.nih.gov/pubmed/20129251 url:http://www.ncbi.nlm.nih.gov/pubmed/23029035 A glioblastoma multiforme that is characterized by the expression of several gene types that are also typical of the brain's normal, noncancerous nerve cells, or neurons. lschriml 2013-12-02T12:40:57Z disease_ontology DOID:0050806 glioblastoma neural subtype A glioblastoma multiforme that is characterized by the expression of several gene types that are also typical of the brain's normal, noncancerous nerve cells, or neurons. url:http://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes url:http://www.ncbi.nlm.nih.gov/pubmed/20129251 url:http://www.ncbi.nlm.nih.gov/pubmed/23029035 An autosomal recessive disease that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has_material_basis_in mutation in the SRD5A3 gene. lschriml 2013-12-02T02:28:58Z OMIM:612713 disease_ontology DOID:0050807 Kahrizi syndrome An autosomal recessive disease that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has_material_basis_in mutation in the SRD5A3 gene. url:http://omim.org/entry/612713?search=Kahrizi%20syndrome&highlight=syndromic%20kahrizi%20syndrome url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=168972 lschriml 2013-12-02T02:56:58Z disease_ontology DOID:0050808 mucopolysaccharidosis IV true A mucopolysaccharidosis characterized by a deficiency in hyaluronidase. lschriml 2013-12-02T02:56:58Z OMIM:601492 disease_ontology DOID:0050809 mucopolysaccharidosis IX A mucopolysaccharidosis characterized by a deficiency in hyaluronidase. url:http://en.wikipedia.org/wiki/Mucopolysaccharidosis#MPS_VII A nutritional deficiency disease that is characterized by thinning of the hair (often with loss of hair color), and red scaly rash around the eyes, nose, and mouth. lschriml 2013-12-02T03:46:44Z B7 deficiency disease_ontology DOID:0050810 biotin deficiency A nutritional deficiency disease that is characterized by thinning of the hair (often with loss of hair color), and red scaly rash around the eyes, nose, and mouth. url:http://en.wikipedia.org/wiki/Biotin_deficiency url:http://www.nlm.nih.gov/medlineplus/druginfo/natural/313.html A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations resulting from steroidogenic enzyme deficiency. lschriml 2013-12-04T12:52:02Z ICD10CM:E25 ICD10CM:E25.9 ICD9CM:255.2 OMIM:201710 OMIM:201810 OMIM:201910 OMIM:202010 OMIM:202110 ORDO:418 SNOMEDCT_US_2016_03_01:154706003 SNOMEDCT_US_2016_03_01:190510000 SNOMEDCT_US_2016_03_01:190519004 SNOMEDCT_US_2016_03_01:267395000 UMLS_CUI:C0701163 adrenal hyperplasia 1 congenital lipoid adrenal hyperplasia lipoid CAH disease_ontology DOID:0050811 Xref MGI. congenital adrenal hyperplasia A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations resulting from steroidogenic enzyme deficiency. url:http://gallus.reactome.org/cgi-bin/instancebrowser?DB=test_gallus_reactome_release_1_myisam&ID=65160& url:http://omim.org/entry/201710 url:http://www.genome.jp/dbget-bin/www_bget?ds:H00216 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=418.0 A spondyloepimetaphyseal dysplasia that is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence. lschriml 2013-12-04T01:24:55Z OMIM:612847 spondyloepimetaphyseal dysplasia Pakistani type disease_ontology DOID:0050812 spondyloepimetaphyseal dysplasia, Pakistani type A spondyloepimetaphyseal dysplasia that is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence. url:http://omim.org/entry/612847 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93282 A spondyloepimetaphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints. lschriml 2013-12-04T01:30:01Z OMIM:143095 CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS CHST3-Related Skeletal Dysplasia Humero-spinal dysostosis with congenital heart disease Humerospinal Dysostosis Humerospinal dysostosis Kozlowski Celermajer Tink syndrome Omani Type Spondyloepiphyseal Dysplasia disease_ontology DOID:0050813 spondyloepiphyseal dysplasia with congenital joint dislocations A spondyloepimetaphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints. url:http://omim.org/entry/143095?search=143095&highlight=143095 url:http://www.informatics.jax.org/disease/143095 url:http://www.ncbi.nlm.nih.gov/gtr/conditions/C1840471/ url:http://www.uniprot.org/diseases/DI-01753 An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has_material_basis_in homozygous mutation in the CHSY1 gene. lschriml 2013-12-05T12:12:10Z OMIM:605282 PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE disease_ontology DOID:0050814 temtamy preaxial brachydactyly syndrome An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has_material_basis_in homozygous mutation in the CHSY1 gene. url:http://www.ncbi.nlm.nih.gov/pubmed/21129728 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=363417 url:http://www.sciencedirect.com/science/article/pii/S1769721213002449 An eye and adnexa disease that is located_in the adnexa of the eye. lschriml 2013-12-05T12:55:42Z disease_ontology DOID:0050815 eye adnexa disease An eye and adnexa disease that is located_in the adnexa of the eye. url:http://en.wikipedia.org/wiki/Accessory_visual_structures An autosomal recessive disease that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding. lschriml 2013-12-05T01:10:52Z OMIM:236730 OMIM:615112 Ochoa syndrome hydronephrosis with peculiar facial expression disease_ontology DOID:0050816 urofacial syndrome An autosomal recessive disease that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding. url:http://en.wikipedia.org/wiki/Urofacial_syndrome url:http://omim.org/entry/236730 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2704 An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness. lschriml 2013-12-11T01:49:54Z OMIM:248200 OMIM:600110 OMIM:603786 STARGARDT DISEASE 1 disease_ontology DOID:0050817 Stargardt disease An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness. url:http://en.wikipedia.org/wiki/Stargardt_disease A vitamin B12 deficiency that is characterized by a lack of vitamin B12 intestinal absorption resulting from a deficiency in the B12 transport protein TCII. lschriml 2013-12-11T02:48:06Z OMIM:275350 TCN2 deficiency disease_ontology DOID:0050818 transcobalamin II deficiency A vitamin B12 deficiency that is characterized by a lack of vitamin B12 intestinal absorption resulting from a deficiency in the B12 transport protein TCII. url:http://omim.org/entry/275350 url:https://www.orpha.net/data/patho/GB/uk-TCII.pdf An autosomal genetic disease that is characterized by microphthalmia or anophthalmia, pulmonary agenesis, and diaphragmatic defect. lschriml 2013-12-11T03:11:49Z OMIM:601186 MCOPS9 microphthalmia syndromic type 9 disease_ontology DOID:0050819 Matthew-Wood syndrome An autosomal genetic disease that is characterized by microphthalmia or anophthalmia, pulmonary agenesis, and diaphragmatic defect. url:http://omim.org/entry/601186?search=%22syndromic%20MICROPHTHALMIa%22&highlight=%22%28syndrome|syndromic%29%20microphthalmia%22 url:http://www.ncbi.nlm.nih.gov/pubmed/17236193 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2470 A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart. lschriml 2014-02-12T01:35:05Z ICD10CM:I44.3 ICD10CM:I44.30 ICD9CM:426.10 MESH:D054537 NCI:C26703 SNOMEDCT_US_2016_03_01:195040005 SNOMEDCT_US_2016_03_01:195043007 SNOMEDCT_US_2016_03_01:233917008 SNOMEDCT_US_2016_03_01:58547007 UMLS_CUI:C0004245 AV block disease_ontology DOID:0050820 atrioventricular block A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart. url:http://en.wikipedia.org/wiki/Atrioventricular_block lschriml 2014-02-12T01:39:42Z disease_ontology DOID:0050821 first-degree atrioventricular block lschriml 2014-02-12T01:39:42Z second-degree heart block disease_ontology DOID:0050822 second-degree atrioventricular block lschriml 2014-02-12T01:39:42Z complete AV block disease_ontology DOID:0050823 third-degree atrioventricular block A heart conduction disease that is characterized by dysfunction of the impulse-generating (pacemaker) tissue located in the right atrium of the heart which generates normal sinus rhythm. lschriml 2014-02-12T01:47:54Z SA node sinuatrial node disease_ontology DOID:0050824 sinoatrial node disease A heart conduction disease that is characterized by dysfunction of the impulse-generating (pacemaker) tissue located in the right atrium of the heart which generates normal sinus rhythm. url:http://en.wikipedia.org/wiki/Sinoatrial_node A heart disease that is located_in the innermost layer of tissue that lines the chambers of the heart. lschriml 2014-02-12T01:53:42Z disease_ontology DOID:0050825 endocardium disease A heart disease that is located_in the innermost layer of tissue that lines the chambers of the heart. url:http://en.wikipedia.org/wiki/Endocardium url:http://www.google.com/url?sa=t&rct=j&q=&esrc=s&source=web&cd=1&ved=0CCkQFjAA&url=http%3A%2F%2Fpeople.upei.ca%2Flmiller%2F2009_CV_Endocardial_Pathology%2FENDOCARDIUM-2009.pdf&ei=SsP7UsjSH8Tx0gGbgYHQAw&usg=AFQjCNH2MScGQBlPP4MG_tL5dAiBiQY_YA&sig2=nbNfx77zxOxnTA9O875QeQ&bvm=bv.61190604,d.dmQ&cad=rja lschriml 2014-02-12T02:55:24Z DOID:13834 ICD10CM:I07 ICD10CM:I07.9 ICD9CM:397.0 SNOMEDCT_US_2016_03_01:155289000 SNOMEDCT_US_2016_03_01:194745002 SNOMEDCT_US_2016_03_01:266282000 SNOMEDCT_US_2016_03_01:49699002 UMLS_CUI:C0264776 RH. tricuspid valve disease Rheumatic disease of tricuspid valve (disorder) Rheumatic tricuspid valve disease NOS (disorder) Tricuspid disease disease of tricuspid valve rheumatic tricuspid valve disease disease_ontology DOID:0050826 tricuspid valve disease RH. tricuspid valve disease SNOMEDCT_2005_07_31:155289000 SNOMEDCT_2005_07_31:266282000 Rheumatic disease of tricuspid valve (disorder) SNOMEDCT_2005_07_31:49699002 Rheumatic tricuspid valve disease NOS (disorder) SNOMEDCT_2005_07_31:194745002 Tricuspid disease MTHICD9_2006:397.0 disease of tricuspid valve ICD9CM_2006:397.0 A heart valve disease that is characterized by repeated inflammation with fibrinous repair. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords.It is caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage. lschriml 2014-02-12T03:03:38Z disease_ontology DOID:0050827 rheumatic heart disease A heart valve disease that is characterized by repeated inflammation with fibrinous repair. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords.It is caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage. url:http://en.wikipedia.org/wiki/Rheumatic_heart_disease A vascular disease that is located_in an artery. lschriml 2014-02-12T03:08:35Z disease_ontology DOID:0050828 artery disease A vascular disease that is located_in an artery. url:http://en.wikipedia.org/wiki/Artery#Pathology A cardiovascular system disease that is located_in the fibrous sac surrounding the heart. lschriml 2014-02-18T12:20:15Z disease_ontology DOID:0050829 pericardium disease A cardiovascular system disease that is located_in the fibrous sac surrounding the heart. url:http://en.wikipedia.org/wiki/Pericardium An artery disease that is characterized by build up of plaque in the arteries that carry blood to your head, organs, and limbs. lschriml 2014-02-18T12:41:09Z disease_ontology DOID:0050830 peripheral artery disease An artery disease that is characterized by build up of plaque in the arteries that carry blood to your head, organs, and limbs. url:http://www.nlm.nih.gov/medlineplus/ency/article/000170.htm url:https://www.nhlbi.nih.gov/health/health-topics/topics/pad/ A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern. lschriml 2014-02-24T10:14:57Z OMIM:604218 FENIB disease_ontology DOID:0050831 familial encephalopathy with neuroserpin inclusion bodies A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern. url:http://ghr.nlm.nih.gov/condition/familial-encephalopathy-with-neuroserpin-inclusion-bodies url:http://www.jbc.org/content/277/19/17367 url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1238/viewFullReport An inherited metabolic disorder involving dysfunction of pyrimidine metabolism. lschriml 2014-02-24T10:29:22Z disease_ontology DOID:0050832 pyrimidine metabolic disorder An inherited metabolic disorder involving dysfunction of pyrimidine metabolism. url:http://en.wikipedia.org/wiki/Pyrimidine_metabolism url:http://www.expertconsultbook.com/expertconsult/op/book.do?method=display&type=bookPage&decorator=none&eid=4-u1.0-B978-1-4160-4478-9..50227-6--cesec50&isbn=978-1-4160-4478-9 A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine. lschriml 2014-02-24T10:29:22Z OMIM:258900 disease_ontology DOID:0050833 orotic aciduria A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine. url:http://en.wikipedia.org/wiki/Orotic_aciduria url:http://www.expertconsultbook.com/expertconsult/op/book.do?method=display&type=bookPage&decorator=none&eid=4-u1.0-B978-1-4160-4478-9..50227-6--cesec50&isbn=978-1-4160-4478-9 url:http://www.omim.org/entry/258900 A syndrome that is acterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina. lschriml 2014-03-18T11:58:38Z ICD10:Q89.8 MESH:D058747 NCI:C75100 OMIM:214800 ORDO:138 SNOMEDCT_US_2016_03_01:394529000 SNOMEDCT_US_2016_03_01:47535005 UMLS_CUI:C0265354 UMLS_CUI:C2936502 CHARGE association disease_ontology DOID:0050834 CHARGE syndrome A syndrome that is acterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina. url:http://en.wikipedia.org/wiki/CHARGE_syndrome url:http://ghr.nlm.nih.gov/condition/charge-syndrome url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=138 url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/550/viewAbstract A dystonia that affects most or all of the body. lschriml 2014-03-18T01:13:36Z DOID:11910 DOID:11911 DOID:11912 DOID:14164 DOID:5159 DOID:531 ICD10CM:G24.1 ICD10CM:G24.2 ICD9CM:333.6 ICD9CM:333.8 MESH:D004422 MESH:D020821 NCI:C34564 NCI:C35437 NCI:C35438 NCI:C35527 SNOMEDCT_US_2016_03_01:155008004 SNOMEDCT_US_2016_03_01:192852006 SNOMEDCT_US_2016_03_01:192853001 SNOMEDCT_US_2016_03_01:192858005 SNOMEDCT_US_2016_03_01:192859002 SNOMEDCT_US_2016_03_01:192862004 SNOMEDCT_US_2016_03_01:22451001 SNOMEDCT_US_2016_03_01:230318005 SNOMEDCT_US_2016_03_01:230321007 SNOMEDCT_US_2016_03_01:267584007 SNOMEDCT_US_2016_03_01:431034009 SNOMEDCT_US_2016_03_01:55776008 SNOMEDCT_US_2016_03_01:57937000 UMLS_CUI:C0013423 UMLS_CUI:C0154674 UMLS_CUI:C0154675 UMLS_CUI:C0393598 UMLS_CUI:C0393601 UMLS_CUI:C0752207 Idiopathic torsion dystonia dystonia deformans progressiva dystonia musculorum deformans familial dystonia fragments of torsion dystonia idiopathic familial dystonia idiopathic non-familial dystonia symptomatic torsion dystonia disease_ontology Dystonia 12 DOID:0050835 MESH:C538001 added from NeuroDevNet [WAK]. generalized dystonia A dystonia that affects most or all of the body. url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm Idiopathic torsion dystonia ICD9CM_2006:333.6 SNOMEDCT_2005_07_31:155008004 dystonia deformans progressiva CSP2005:2057-3370 Dystonia 12 MESH:C538001 A dystonia that is localized to a specific part of the body. lschriml 2014-03-18T01:13:36Z disease_ontology DOID:0050836 focal dystonia A dystonia that is localized to a specific part of the body. url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm A dystonia that involves two or more unrelated body parts. lschriml 2014-03-18T01:13:36Z disease_ontology DOID:0050837 multifocal dystonia A dystonia that involves two or more unrelated body parts. url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm A dystonia that affects two or more adjacent parts of the body. lschriml 2014-03-18T01:13:36Z disease_ontology DOID:0050838 segmental dystonia A dystonia that affects two or more adjacent parts of the body. url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm lschriml 2014-03-18T01:30:33Z disease_ontology DOID:0050839 anismus A focal dystonia that is characterized by simultaneous contraction of the agonist and antagonist muscles that control the position of the head contracting during dystonic movement which causes the neck to involuntarily turn to the left, right, upwards, and/or downwards. lschriml 2014-03-18T01:30:33Z spasmodic torticollis disease_ontology DOID:0050840 cervical dystonia A focal dystonia that is characterized by simultaneous contraction of the agonist and antagonist muscles that control the position of the head contracting during dystonic movement which causes the neck to involuntarily turn to the left, right, upwards, and/or downwards. url:http://en.wikipedia.org/wiki/Spasmodic_torticollis url:http://www.ncbi.nlm.nih.gov/books/NBK1155/ A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions. lschriml 2014-03-18T01:30:33Z DOID:13467 ICD9CM:333.84 MESH:D020821 SNOMEDCT_US_2016_03_01:155009007 SNOMEDCT_US_2016_03_01:267690000 SNOMEDCT_US_2016_03_01:52008007 SNOMEDCT_US_2016_03_01:79994003 UMLS_CUI:C0154676 organic writer's cramp disease_ontology DOID:0050841 focal hand dystonia A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions. url:http://en.wikipedia.org/wiki/Dystonia A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes. lschriml 2014-03-18T01:30:33Z disease_ontology DOID:0050842 oculogyric crisis A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes. url:http://en.wikipedia.org/wiki/Oculogyric_crisis A focal dystonia that is characterized by distortions of the mouth and tongue. lschriml 2014-03-18T01:30:33Z disease_ontology DOID:0050843 oromandibular dystonia A focal dystonia that is characterized by distortions of the mouth and tongue. url:http://en.wikipedia.org/wiki/Oromandibular_dystonia A focal dystonia that involves the muscles that control the vocal cords, resulting in strained or breathy speech. lschriml 2014-03-18T01:30:33Z laryngeal dystonia disease_ontology DOID:0050844 spasmodic dystonia A focal dystonia that involves the muscles that control the vocal cords, resulting in strained or breathy speech. url:http://www.nidcd.nih.gov/health/voice/pages/spasdysp.aspx A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck. lschriml 2014-03-18T01:33:33Z disease_ontology DOID:0050845 cranio-facial dystonia A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck. url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm A multifocal dystonia that involves the arm and leg on the same side of the body. lschriml 2014-03-18T01:39:30Z disease_ontology DOID:0050846 hemidystonia A multifocal dystonia that involves the arm and leg on the same side of the body. url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep. lschriml 2014-03-20T03:57:22Z disease_ontology DOID:0050847 sleep apnea A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep. url:http://www.mayoclinic.org/diseases-conditions/sleep-apnea/basics/definition/con-20020286 url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2765300/ url:http://www.nhlbi.nih.gov/health/health-topics/topics/sleepapnea/ A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep. lschriml 2014-03-20T03:57:22Z ICD10CM:G47.3 ICD10CM:G47.30 ICD9CM:780.57 MESH:D012891 NCI:C26884 OMIM:107650 SNOMEDCT_US_2016_03_01:155614007 SNOMEDCT_US_2016_03_01:194441007 SNOMEDCT_US_2016_03_01:196166002 SNOMEDCT_US_2016_03_01:206750008 SNOMEDCT_US_2016_03_01:230493001 SNOMEDCT_US_2016_03_01:313246000 SNOMEDCT_US_2016_03_01:73430006 UMLS_CUI:C0020529 UMLS_CUI:C0037315 UMLS_CUI:C0338495 obstructive sleep apnea syndrome disease_ontology DOID:0050848 Xref MGI. obstructive sleep apnea A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep. url:http://en.wikipedia.org/wiki/Obstructive_sleep_apnea url:http://www.mayoclinic.org/diseases-conditions/sleep-apnea/basics/definition/con-20020286 url:http://www.nlm.nih.gov/medlineplus/ency/article/000811.htm url:https://www.ncbi.nlm.nih.gov/books/NBK63555/#executivesummary.s1 lschriml 2014-04-15T03:26:13Z disease_ontology DOID:0050849 periampullary adenoma A brain disease that is characterized by functional impairment of cognition, cerebral signal conduction, neurotransmission and synaptic plasticity, and underlying structural pathology associated with diabetes. lschriml 2014-04-15T03:33:49Z disease_ontology DOID:0050850 diabetic encephalopathy A brain disease that is characterized by functional impairment of cognition, cerebral signal conduction, neurotransmission and synaptic plasticity, and underlying structural pathology associated with diabetes. url:http://link.springer.com/chapter/10.1007%2F978-1-59745-311-0_11#page-1 url:http://www.ncbi.nlm.nih.gov/pubmed/20798963 A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney. lschriml 2014-04-15T03:40:31Z disease_ontology DOID:0050851 glomerulosclerosis A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney. url:http://en.wikipedia.org/wiki/Glomerulosclerosis lschriml 2014-04-15T03:46:27Z disease_ontology DOID:0050852 limb ischemia lschriml 2014-04-15T03:50:26Z disease_ontology DOID:0050853 chronic venous insufficiency lschriml 2014-04-15T03:53:41Z disease_ontology DOID:0050854 Muckle-Wells syndrome lschriml 2014-04-15T03:56:58Z disease_ontology DOID:0050855 renal fibrosis lschriml 2014-04-15T04:03:08Z disease_ontology DOID:0050856 oppositional defiant disorder An autosomal recessive disesase that is characterized by sensorineural hearing loss and ovarian failure. lschriml 2014-04-24T01:56:35Z OMIM:233400 OMIM:614129 OMIM:614926 OMIM:615300 ORDO:2855 disease_ontology DOID:0050857 Perrault syndrome An autosomal recessive disesase that is characterized by sensorineural hearing loss and ovarian failure. url:http://ghr.nlm.nih.gov/gene/LARS2 url:http://www.ncbi.nlm.nih.gov/pubmed/23541340 A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation. lschriml 2014-04-24T02:06:30Z OMIM:602535 ORDO:561 disease_ontology DOID:0050858 Marshall-Smith syndrome A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation. url:http://en.wikipedia.org/wiki/Marshall%E2%80%93Smith_syndrome url:http://rarediseases.info.nih.gov/gard/6985/marshall-smith-syndrome/resources/1 lschriml 2014-04-29T01:31:08Z disease_ontology DOID:0050859 hemorrhagic cystitis lschriml 2014-05-05T03:14:49Z disease_ontology DOID:0050860 colorectal adenoma A colorectal cancer that derives_from epithelial cells of glandular origin. lschriml 2014-05-05T03:16:55Z disease_ontology DOID:0050861 colorectal adenocarcinoma A colorectal cancer that derives_from epithelial cells of glandular origin. url:http://cancergenome.nih.gov/cancersselected/colorectaladenocarcinoma url:http://en.wikipedia.org/wiki/Adenocarcinoma lschriml 2014-05-05T03:25:57Z disease_ontology DOID:0050862 pyometritis lschriml 2014-05-09T02:38:13Z disease_ontology DOID:0050863 arteritic anterior ischemic optic neuropathy lschriml 2014-05-09T02:38:13Z nonarteritic anterior ischemic optic neuropathy disease_ontology DOID:0050864 non-arteritic anterior ischemic optic neuropathy A head and neck squamous cell carcinoma that is located_in the tongue. lschriml 2014-05-12T02:38:44Z MESH:D002294 NCI:C2929 SNOMEDCT_US_2016_03_01:154605007 SNOMEDCT_US_2016_03_01:189566008 SNOMEDCT_US_2016_03_01:28899001 SNOMEDCT_US_2016_03_01:402815007 UMLS_CUI:C0007137 disease_ontology DOID:0050865 tongue squamous cell carcinoma A head and neck squamous cell carcinoma that is located_in the tongue. url:http://en.wikipedia.org/wiki/Squamous_cell_carcinoma An oral cavity cancer that has_material_basis_in squamous cells. lschriml 2014-05-12T02:45:04Z mouth squamous cell carcinoma disease_ontology DOID:0050866 oral squamous cell carcinoma An oral cavity cancer that has_material_basis_in squamous cells. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma A syndrome that is characterized by sensorineural hearing loss with onset in infancy, followed in adolescence by progressive optic nerve atrophy with loss of vision and in adulthood by progressive dementia. lschriml 2014-06-03T01:18:20Z ORDO:3213 opticoacoustic nerve atrophy with dementia disease_ontology DOID:0050867 Jensen syndrome A syndrome that is characterized by sensorineural hearing loss with onset in infancy, followed in adolescence by progressive optic nerve atrophy with loss of vision and in adulthood by progressive dementia. url:http://omim.org/entry/311150 url:http://www.ncbi.nlm.nih.gov/pubmed/3425626 url:http://www.ncbi.nlm.nih.gov/pubmed/7195649 url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2868&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=3213&Disease(s)/group%20of%20diseases=Jensen-syndrome&title=Jensen-syndrome&search=Disease_Search_Simple lschriml 2014-06-25T05:07:35Z disease_ontology DOID:0050868 hepatocellular adenoma lschriml 2014-06-25T05:08:30Z disease_ontology DOID:0050869 villous adenoma A lung cancer that derives_from the distal bronchioles or alveoli that initially exhibit a specific non-invasive growth pattern. lschriml 2014-06-25T05:10:52Z bronchioalveolar carcinoma disease_ontology DOID:0050870 in situ pulmonary adenocarcinoma A lung cancer that derives_from the distal bronchioles or alveoli that initially exhibit a specific non-invasive growth pattern. url:http://en.wikipedia.org/wiki/Bronchioalveolar_carcinoma lschriml 2014-06-25T05:14:03Z disease_ontology DOID:0050871 fibroma lschriml 2014-06-25T05:17:11Z disease_ontology DOID:0050872 large cell neuroendocrine carcinoma A non-Hodgkin lymphoma that is characterized as an indolent non-Hodgkin's lymphoma and has_material_basis_in follicle center B-cells (centrocytes and centroblasts). lschriml 2014-06-25T05:24:10Z MESH:D008224 disease_ontology DOID:0050873 follicular lymphoma A non-Hodgkin lymphoma that is characterized as an indolent non-Hodgkin's lymphoma and has_material_basis_in follicle center B-cells (centrocytes and centroblasts). url:http://en.wikipedia.org/wiki/Follicular_lymphoma url:http://www.cancer.gov/dictionary?CdrID=428287 lschriml 2014-06-25T05:31:24Z disease_ontology DOID:0050875 small cell neuroendocrine carcinoma A bile duct disease that is characterized by abnormal dilatation of the intrahepatic bile ducts. lschriml 2014-07-09T01:28:09Z MESH:D016767 NCI:C84619 SNOMEDCT_US_2016_03_01:111331000 UMLS_CUI:C0162510 disease_ontology DOID:0050876 Caroli disease A bile duct disease that is characterized by abnormal dilatation of the intrahepatic bile ducts. url:http://en.wikipedia.org/wiki/Caroli_disease url:http://www.medindex.am/glossary/mesh/defini.php?action=search&type=cui&word=C0162510 url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/606/viewAbstract A pancreas disease that is characterized by the failure of the pancreas to develop prior to birth. lschriml 2014-07-09T03:35:41Z OMIM:260370 partial pancreatic agenesis disease_ontology DOID:0050877 pancreatic agenesis A pancreas disease that is characterized by the failure of the pancreas to develop prior to birth. url:http://rarediseases.info.nih.gov/gard/10874/pancreatic-agenesis/resources/1 url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4062962/pdf/emss-58937.pdf url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2805 lschriml 2014-07-29T01:17:13Z Factor I deficiency Fibrinogen deficiency disease_ontology DOID:0050878 OMIM mapping confirmed by DO. [SN]. CLONE OF congenital afibrinogenemia true Factor I deficiency NCI2004_11_17:C26692 Fibrinogen deficiency SNOMEDCT_2005_07_31:29718007 A X-linked hereditary ataxia that is characterized by adult-onset progressive intention tremor and gait ataxia, has_material_basis_in expanded trinucleotide repeat of the FMR1 gene that results_in a toxic gain of function of FMR1 RNA. lschriml 2014-08-04T01:52:12Z OMIM:300623 FXTAS syndrome disease_ontology DOID:0050879 fragile X-associated tremor/ataxia syndrome A X-linked hereditary ataxia that is characterized by adult-onset progressive intention tremor and gait ataxia, has_material_basis_in expanded trinucleotide repeat of the FMR1 gene that results_in a toxic gain of function of FMR1 RNA. url:http://en.wikipedia.org/wiki/Fragile_X-associated_tremor/ataxia_syndrome url:http://omim.org/entry/300623 url:http://www.ncbi.nlm.nih.gov/pubmed/18195136 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=93256 A syndrome that is characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system, and has_physical_basis_in either a chromosome 17 (17q21.31) microdeletion or a mutation in the KANSL1-gene. lschriml 2014-08-06T12:57:12Z OMIM:610443 ORDO:96169 17q21.31 microdeletion syndrome KANSL1-related intellectual disability syndrome KdVS Koolen-De Vries syndrome disease_ontology DOID:0050880 Koolen de Vries syndrome A syndrome that is characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system, and has_physical_basis_in either a chromosome 17 (17q21.31) microdeletion or a mutation in the KANSL1-gene. url:http://en.wikipedia.org/wiki/Koolen_De_Vries_syndrome url:http://ghr.nlm.nih.gov/condition/koolen-de-vries-syndrome url:http://omim.org/entry/610443 url:http://www.17q21.com/en/ url:http://www.ncbi.nlm.nih.gov/books/NBK24676/ url:http://www.ncbi.nlm.nih.gov/pubmed/22544363 url:http://www.ncbi.nlm.nih.gov/pubmed/22544367 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=96169 A syndrome that is characterized by progressive proximal muscle weakness, steolytic bone lesions consistent with Paget disease, and frontotemporal dementia and has_physical_basis_in mutation in the valosin containing protein (VCP). lschriml 2014-08-06T02:30:16Z OMIM:167320 OMIM:615422 OMIM:615424 IBMPFD inclusion body myopathy with Paget's disease of bone and frontotemporal dementia disease_ontology DOID:0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia A syndrome that is characterized by progressive proximal muscle weakness, steolytic bone lesions consistent with Paget disease, and frontotemporal dementia and has_physical_basis_in mutation in the valosin containing protein (VCP). url:http://omim.org/entry/167320 url:http://www.ncbi.nlm.nih.gov/pubmed/19380227 url:http://www.ncbi.nlm.nih.gov/pubmed/21892620 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=21304887 url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=10698&Disease_Disease_Search_diseaseGroup=inclusion-body-myopathy-with-Paget&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Inclusion-body-myopathy-with-Paget-disease-of-bone-and-frontotemporal-dementia&title=Inclusion-body-myopathy-with-Paget-disease-of-bone-and-frontotemporal-dementia&search=Disease_Search_Simple An autosomal dominant cerebellar ataxia that is characterized by the early-onset of cerebellar signs and eye movement abnormalities with a very slow disease progression, and has material basis in mutation in the SPTBN2 gene. lschriml 2014-08-06T03:51:03Z OMIM:600224 disease_ontology DOID:0050882 spinocerebellar ataxia type 5 An autosomal dominant cerebellar ataxia that is characterized by the early-onset of cerebellar signs and eye movement abnormalities with a very slow disease progression, and has material basis in mutation in the SPTBN2 gene. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=20368622 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98766 A neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration. lschriml 2014-08-06T04:09:42Z OMIM:614559 disease_ontology DOID:0050883 infantile cerebellar-retinal degeneration A neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration. url:http://omim.org/entry/614559 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=22405087 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=23438437 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313850 url:http://www.uniprot.org/diseases/DI-03409 A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_physical_basis_in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait. lschriml 2014-08-07T11:44:31Z OMIM:615512 Triose phosphate-isomerase deficiency disease_ontology DOID:0050884 triosephosphate isomerase deficiency A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_physical_basis_in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait. url:http://en.wikipedia.org/wiki/Triosephosphate_isomerase_deficiency url:http://omim.org/entry/615512 url:http://www.ncbi.nlm.nih.gov/pubmed/16980388 url:http://www.ncbi.nlm.nih.gov/pubmed/17424909 url:http://www.ncbi.nlm.nih.gov/pubmed/23318931 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=868 url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1183/printFullReport A syndrome that is characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities and has_physical_basis_in heterozygous mutation in the CDKN1C gene. lschriml 2014-08-07T12:04:30Z OMIM:614732 intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities disease_ontology DOID:0050885 IMAGe syndrome A syndrome that is characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities and has_physical_basis_in heterozygous mutation in the CDKN1C gene. url:http://omim.org/entry/614732 url:http://www.ncbi.nlm.nih.gov/pubmed/14760276 url:http://www.ncbi.nlm.nih.gov/pubmed/22634751 url:http://www.ncbi.nlm.nih.gov/pubmed/23719190 url:http://www.ncbi.nlm.nih.gov/pubmed/24065356 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=85173 A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene. lschriml 2014-08-07T12:18:56Z ICD10CM:G11.4 OMIM:275900 ORDO:101000 SPG20 autosomal recessive spastic paraplegia 20 autosomal recessive spastic paraplegia Troyer type autosomal recessive spastic paraplegia type 20 childhood-onset spastic paraparesis with distal muscle wasting hereditary spastic paraplegia 20 spastic paraplegia 20 (Troyer syndrome) spastic paraplegia type 20 disease_ontology DOID:0050886 Troyer syndrome A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene. url:http://en.wikipedia.org/wiki/SPG20 url:http://ghr.nlm.nih.gov/condition/troyer-syndrome url:http://ghr.nlm.nih.gov/gene/SPG20 url:http://omim.org/entry/275900 url:http://www.ncbi.nlm.nih.gov/pubmed/20301556 url:http://www.orpha.net/consor/cgi-bin//Disease_Search.php?lng=EN&data_id=14711&Disease_Disease_Search_diseaseGroup=spastic-paraplegia&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Autosomal-recessive-spastic-paraplegia-type-20&title=Autosomal-recessive-spastic-paraplegia-type-20&search=Disease_Search_Simple An autosomal dominant disease that is characterized by imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. lschriml 2014-08-11T03:58:35Z OMIM:107480 disease_ontology DOID:0050887 Townes-Brocks syndrome An autosomal dominant disease that is characterized by imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. url:http://en.wikipedia.org/wiki/Townes%E2%80%93Brocks_syndrome url:http://ghr.nlm.nih.gov/condition/townes-brocks-syndrome url:http://www.ncbi.nlm.nih.gov/pubmed/?term=12925729 url:http://www.omim.org/entry/107480 url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=218&Disease(s)/group%20of%20diseases=Townes-Brocks-syndrome&title=Townes-Brocks-syndrome&search=Disease_Search_Simple An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms. lschriml 2014-08-14T10:55:32Z OMIM:300486 OMIM:300860 OMIM:309583 disease_ontology DOID:0050888 syndromic intellectual disability An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms. url:http://en.wikipedia.org/wiki/Intellectual_disability An intellectual disability that is characterized by the absence of associated medical and behavioral signs and symptoms. lschriml 2014-08-14T10:57:36Z OMIM:613192 OMIM:614202 disease_ontology DOID:0050889 non-syndromic intellectual disability An intellectual disability that is characterized by the absence of associated medical and behavioral signs and symptoms. url:http://en.wikipedia.org/wiki/Intellectual_disability url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2974911/ A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. lschriml 2014-08-14T03:29:17Z alpha Synucleinopathies disease_ontology Synucleinopathies DOID:0050890 synucleinopathy A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. url:http://en.wikipedia.org/wiki/Synucleinopathies An adrenal adenoma that is a benign tumor of the adrenal cortex. lschriml 2014-09-04T01:54:59Z adrenocortical adenoma disease_ontology DOID:0050891 adrenal cortical adenoma An adrenal adenoma that is a benign tumor of the adrenal cortex. url:http://en.wikipedia.org/wiki/Adrenocortical_adenoma An adrenal medulla cancer that is characterized by overproduction of adrenaline. lschriml 2014-09-11T01:01:57Z disease_ontology DOID:0050892 adrenal gland pheochromocytoma An adrenal medulla cancer that is characterized by overproduction of adrenaline. url:http://en.wikipedia.org/wiki/Adrenal_tumor#Pheochromocytoma url:http://en.wikipedia.org/wiki/Pheochromocytoma url:http://www.cancer.gov/cancertopics/types/pheochromocytoma A biliary tract neoplasm that has_material_basis_in epithelial tissue of glandular origin located_in the gallbladder. lschriml 2014-09-11T01:53:07Z disease_ontology DOID:0050893 gallbladder adenoma A biliary tract neoplasm that has_material_basis_in epithelial tissue of glandular origin located_in the gallbladder. url:http://en.wikipedia.org/wiki/Adenoma A cell type benign neoplasm that has_material_basis_in odontogenic epithelium. lschriml 2014-09-11T02:44:50Z disease_ontology DOID:0050894 ameloblastoma A cell type benign neoplasm that has_material_basis_in odontogenic epithelium. url:http://en.wikipedia.org/wiki/Ameloblastoma A bone benign neoplasm that has_material_basis_in odontogenic epithelium and is located_in bone. lschriml 2014-09-11T02:46:51Z disease_ontology DOID:0050895 bone ameloblastoma A bone benign neoplasm that has_material_basis_in odontogenic epithelium and is located_in bone. url:http://en.wikipedia.org/wiki/Ameloblastoma A bone carcinoma that derives_from squamous epithelial cells. lschriml 2014-09-11T02:50:46Z disease_ontology DOID:0050896 bone squamous cell carcinoma A bone carcinoma that derives_from squamous epithelial cells. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma A chondrosarcoma that is located_in bone. lschriml 2014-09-11T02:55:07Z disease_ontology DOID:0050897 bone chondrosarcoma A chondrosarcoma that is located_in bone. url:http://en.wikipedia.org/wiki/Chondrosarcoma A bone benign neoplasm that is located_in the phalanx that has_material_basis_in cartilaginous cells. lschriml 2014-09-11T03:42:42Z disease_ontology DOID:0050898 phalanx chondroma A bone benign neoplasm that is located_in the phalanx that has_material_basis_in cartilaginous cells. url:http://en.wikipedia.org/wiki/Chondroma A brain stem cancer that begins in the lower part of the brain on the floor of the skull. lschriml 2014-10-06T14:23:29Z disease_ontology DOID:0050899 brain stem medulloblastoma A brain stem cancer that begins in the lower part of the brain on the floor of the skull. url:http://en.wikipedia.org/wiki/Medulloblastoma A spinal chordoma that is located_in the sacrum. lschriml 2014-10-06T14:25:16Z disease_ontology DOID:0050900 sacrum chordoma A spinal chordoma that is located_in the sacrum. url:http://en.wikipedia.org/wiki/Sacrum url:http://www.cancer.gov/dictionary?CdrID=45297 A brain oligodendroglioma located_in the corpus callosum. lschriml 2014-10-06T14:26:18Z disease_ontology DOID:0050901 corpus callosum oligodendroglioma A brain oligodendroglioma located_in the corpus callosum. url:http://en.wikipedia.org/wiki/Corpus_callosum url:http://en.wikipedia.org/wiki/Oligodendroglioma url:http://www.cancer.gov/dictionary?CdrID=46257 An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor. lschriml 2014-10-06T14:36:37Z DOID:0060105 DOID:168 DOID:3858 DOID:4981 MESH:D008527 MESH:D018242 NCI:C27294 NCI:C3222 NCI:C3716 OMIM:155255 SNOMEDCT_US_2016_03_01:189921005 SNOMEDCT_US_2016_03_01:189925001 SNOMEDCT_US_2016_03_01:189933000 SNOMEDCT_US_2016_03_01:39781001 SNOMEDCT_US_2016_03_01:443333004 SNOMEDCT_US_2016_03_01:55045006 SNOMEDCT_US_2016_03_01:699028006 SNOMEDCT_US_2016_03_01:83217000 UMLS_CUI:C0025149 UMLS_CUI:C0206663 UMLS_CUI:C1334410 CNS PNET CPNET brain medulloblastoma infratentorial primitive neuroectodermal tumor localized primitive neuroectodermal tumor disease_ontology DOID:0050902 OMIM mapping confirmed by DO. [SN]. medulloblastoma An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor. url:http://en.wikipedia.org/wiki/Medulloblastoma url:http://www.cancer.gov/dictionary?CdrID=45780 CNS PNET NCI2004_11_17:C5398 CPNET SNOMEDCT_2005_07_31:39781001 A parietal lobe neoplasm that has_material_basis_in cells lining the ventricles of the brain. lschriml 2014-10-08T16:00:54Z disease_ontology DOID:0050903 parietal lobe ependymoma A parietal lobe neoplasm that has_material_basis_in cells lining the ventricles of the brain. url:http://www.cancer.gov/dictionary?CdrID=46432 A salivary gland cancer that has_material_basis_in epithelial cells. lschriml 2014-10-08T16:52:58Z disease_ontology DOID:0050904 salivary gland carcinoma A salivary gland cancer that has_material_basis_in epithelial cells. url:http://en.wikipedia.org/wiki/Salivary_gland_neoplasm url:http://www.cancer.gov/dictionary?CdrID=45963 A mesenchymal cell neoplasm that has_material_basis_in myofibroblastic cells admixed with inflammatory cells. lschriml 2014-10-09T14:18:08Z disease_ontology DOID:0050905 inflammatory myofibroblastic tumor A mesenchymal cell neoplasm that has_material_basis_in myofibroblastic cells admixed with inflammatory cells. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2689747/ url:http://www.ncbi.nlm.nih.gov/pubmed/?term=23091756 A sensory organ benign neoplasm that is located in the eye conjunctiva. lschriml 2014-10-13T11:47:25Z disease_ontology DOID:0050906 conjunctival nevus A sensory organ benign neoplasm that is located in the eye conjunctiva. url:http://en.wikipedia.org/wiki/Conjunctiva url:http://en.wikipedia.org/wiki/Eye_neoplasm#Conjunctival_tumors A mixed germ cell cancer that is located_in areas of the body other than the ovary or testicle. lschriml 2014-10-13T12:37:37Z disease_ontology DOID:0050907 mixed extragonadal germ cell cancer A mixed germ cell cancer that is located_in areas of the body other than the ovary or testicle. url:http://en.wikipedia.org/wiki/Germ_cell_tumor#Mixed url:http://www.cancer.gov/dictionary?CdrID=444993 A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets. lschriml 2014-10-13T12:51:33Z ICD9:238.7 MESH:D009190 OMIM:614286 UMLS_CUI:C2713368 disease_ontology DOID:0050908 myelodysplastic syndrome A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets. url:http://en.wikipedia.org/wiki/Myelodysplastic_syndrome url:http://www.cancer.gov/dictionary?CdrID=45266 A non-Hodgkin lymphoma that has_material_basis_in mucosal tissue involved in antibody production. lschriml 2014-10-13T14:17:40Z mucosa-associated lymphoid tissue lymphoma disease_ontology DOID:0050909 MALT lymphoma A non-Hodgkin lymphoma that has_material_basis_in mucosal tissue involved in antibody production. url:http://www.cancer.gov/dictionary?CdrID=45774 A cecal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. lschriml 2014-10-13T14:41:01Z caecum adenoma disease_ontology DOID:0050910 cecum adenoma A cecal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. url:http://en.wikipedia.org/wiki/Adenoma An appendix cancer that has_material_basis_in neurodendocrine cells. lschriml 2014-10-13T14:45:41Z appendix carcinoid endocrine tumour disease_ontology DOID:0050911 appendix carcinoid tumor An appendix cancer that has_material_basis_in neurodendocrine cells. url:http://en.wikipedia.org/wiki/Carcinoid url:http://www.cancer.gov/dictionary?CdrID=44233 A colonic benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. lschriml 2014-10-13T14:56:27Z disease_ontology DOID:0050912 colon adenoma A colonic benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. url:http://en.wikipedia.org/wiki/Colorectal_adenoma url:http://www.cancer.gov/dictionary?CdrID=46217 A large intestine cancer that has_material_basis_in epithelial cells of glandular origin. lschriml 2014-10-13T15:00:10Z disease_ontology DOID:0050913 large intestine adenocarcinoma A large intestine cancer that has_material_basis_in epithelial cells of glandular origin. url:http://www.cancer.gov/dictionary?CdrID=46216 An intestinal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin and is located_in the large intestine. lschriml 2014-10-13T15:07:10Z disease_ontology DOID:0050914 large intestine adenoma An intestinal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin and is located_in the large intestine. url:http://en.wikipedia.org/wiki/Adenoma An intestinal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin and is located_in the rectum. lschriml 2014-10-13T15:09:51Z disease_ontology DOID:0050915 rectum adenoma An intestinal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin and is located_in the rectum. url:http://en.wikipedia.org/wiki/Adenoma A bronchus cancer that has_material_basis_in squamous cells, mucus-secreting cells, and intermediate cells. lschriml 2014-10-13T15:13:54Z disease_ontology DOID:0050916 bronchus mucoepidermoid carcinoma A bronchus cancer that has_material_basis_in squamous cells, mucus-secreting cells, and intermediate cells. url:http://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma url:http://oralcancerfoundation.org/facts/rare/mc/ A lung combined type small cell carcinoma that has_material_basis_in epithelial tissue of glandular origin. lschriml 2014-10-13T15:36:11Z disease_ontology DOID:0050917 lung combined type small cell adenocarcinoma A lung combined type small cell carcinoma that has_material_basis_in epithelial tissue of glandular origin. url:http://en.wikipedia.org/wiki/Combined_small-cell_lung_carcinoma url:http://www.cancer.gov/dictionary?CdrID=45327 url:http://www.cancer.gov/dictionary?CdrID=46216 A vaginal cancer that has_material_basis_in epithelial cells. lschriml 2014-10-21T11:37:19Z disease_ontology DOID:0050918 vaginal carcinoma A vaginal cancer that has_material_basis_in epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma A trachea carcinoma that is characterized by the presence of squamous cells, mucus-secreting cells, and intermediate cells. lschriml 2014-10-21T11:42:42Z disease_ontology DOID:0050919 trachea mucoepidermoid carcinoma A trachea carcinoma that is characterized by the presence of squamous cells, mucus-secreting cells, and intermediate cells. url:http://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma A tonsil cancer that has_material_basis_in squamous cells. lschriml 2014-10-21T11:48:00Z disease_ontology DOID:0050920 tonsil squamous cell carcinoma A tonsil cancer that has_material_basis_in squamous cells. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma A pharynx cancer that has_material_basis_in squamous cells. lschriml 2014-10-21T11:54:00Z disease_ontology DOID:0050921 pharynx squamous cell carcinoma A pharynx cancer that has_material_basis_in squamous cells. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma A gastrointestinal system cancer that has_material_basis_in epithelial cells. lschriml 2014-10-21T11:56:36Z disease_ontology DOID:0050922 gastrointestinal carcinoma A gastrointestinal system cancer that has_material_basis_in epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma A thyroid carcinoma that has_material_basis_in compact bundles of long spindle epithelial cells that merge with tubulopapillary structures and/or mucinous glands. lschriml 2014-10-21T12:26:31Z SETTLE tumor disease_ontology DOID:0050923 spindle epithelial tumor with thymus-like differentiation tumor A thyroid carcinoma that has_material_basis_in compact bundles of long spindle epithelial cells that merge with tubulopapillary structures and/or mucinous glands. url:http://www.ncbi.nlm.nih.gov/pubmed/19417583 url:http://www.ncbi.nlm.nih.gov/pubmed/2050369 url:http://www.pathologyoutlines.com/topic/thyroidsettle.html url:http://www.scielo.br/scielo.php?pid=S0004-27302010000700011&script=sci_arttext A muscle cancer that is located_in striated muscle and has_material_basis_in rhabdoid cells which are large cells with eccentrically located nuclei and abundant, eosinophilic cytoplasm. lschriml 2014-10-21T12:38:23Z disease_ontology DOID:0050924 striated muscle rhabdoid tumor A muscle cancer that is located_in striated muscle and has_material_basis_in rhabdoid cells which are large cells with eccentrically located nuclei and abundant, eosinophilic cytoplasm. url:http://en.wikipedia.org/wiki/Malignant_rhabdoid_tumour url:http://www.cancer.gov/dictionary?CdrID=46139 A small intestine cancer that has_material_basis_in cells of the neuroendocrine system. lschriml 2014-10-21T12:58:08Z disease_ontology DOID:0050925 small intestine carcinoid neuroendocrine tumor A small intestine cancer that has_material_basis_in cells of the neuroendocrine system. url:http://en.wikipedia.org/wiki/Carcinoid A jejunal cancer that is located_in the jejunum and has_material_basis_in epithelial tissue that has glandular origin. lschriml 2014-10-21T13:00:15Z disease_ontology DOID:0050926 jejunal adenocarcinoma A jejunal cancer that is located_in the jejunum and has_material_basis_in epithelial tissue that has glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma A duodenal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. lschriml 2014-10-21T13:02:15Z disease_ontology DOID:0050927 duodenum adenoma A duodenal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. url:http://en.wikipedia.org/wiki/Adenoma An ovarian cancer that has_material_basis_in melanoctyes. lschriml 2014-10-21T13:27:44Z disease_ontology DOID:0050928 ovarian melanoma An ovarian cancer that has_material_basis_in melanoctyes. url:http://en.wikipedia.org/wiki/Melanoma url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3157440/ url:http://www.ncbi.nlm.nih.gov/pubmed/15166669 A melanoma that has_material_basis_in melanocytes located_in mucosal membranes lining the respiratory, gastrointestinal and urogenital tract. lschriml 2014-10-21T13:51:49Z disease_ontology DOID:0050929 mucosal melanoma A melanoma that has_material_basis_in melanocytes located_in mucosal membranes lining the respiratory, gastrointestinal and urogenital tract. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3466987/?report=classic A sublingual gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. lschriml 2014-10-21T14:04:40Z disease_ontology DOID:0050930 sublingual gland adenoid cystic carcinoma A sublingual gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. url:http://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma A parotid gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. lschriml 2014-10-21T14:09:29Z disease_ontology DOID:0050931 parotid gland adenoid cystic carcinoma A parotid gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. url:http://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma url:http://en.wikipedia.org/wiki/Parotid_gland A lung carcinoma that has_material_basis in a combination of squamous cells, mucus secreting cells and intermediate cells. lschriml 2014-10-21T15:13:36Z disease_ontology DOID:0050932 lung mucoepidermoid carcinoma A lung carcinoma that has_material_basis in a combination of squamous cells, mucus secreting cells and intermediate cells. url:http://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma An ovarian carcinoma that has_material_basis_in the lining of the ovary and produces a serum-like fluid. lschriml 2014-10-21T15:51:41Z disease_ontology DOID:0050933 ovarian serous carcinoma An ovarian carcinoma that has_material_basis_in the lining of the ovary and produces a serum-like fluid. url:http://en.wikipedia.org/wiki/Serous_carcinoma An ovarian carcinoma that has_material_basis_in cells with clear cytoplasm and glycogen secreting hob nail cells. lschriml 2014-10-21T15:54:52Z clear-cell ovarian carcinoma disease_ontology DOID:0050934 ovarian clear cell carcinoma An ovarian carcinoma that has_material_basis_in cells with clear cytoplasm and glycogen secreting hob nail cells. url:http://en.wikipedia.org/wiki/Clear-cell_ovarian_carcinoma An extracranial neuroblastoma that has_material_basis_in immature nerve cells. lschriml 2014-10-21T16:02:01Z disease_ontology DOID:0050935 cervical neuroblastoma An extracranial neuroblastoma that has_material_basis_in immature nerve cells. url:http://en.wikipedia.org/wiki/Neuroblastoma url:http://link.springer.com/article/10.1007%2Fs12070-007-0083-5 url:http://www.mayoclinic.org/diseases-conditions/neuroblastoma/basics/definition/con-20027487 url:http://www.ncbi.nlm.nih.gov/pubmed/15390353 url:http://www.ncbi.nlm.nih.gov/pubmed/9262064 An adrenal medulla cancer that originate in the ganglia of the sympathetic nervous system and are named based upon the primary anatomical site of origin. lschriml 2014-10-22T10:25:45Z disease_ontology DOID:0050936 extra-adrenal pheochromocytoma An adrenal medulla cancer that originate in the ganglia of the sympathetic nervous system and are named based upon the primary anatomical site of origin. url:http://en.wikipedia.org/wiki/Pheochromocytoma A retroperitoneal cancer that has_material_basis_in immature nerve cells. lschriml 2014-10-22T11:18:01Z disease_ontology DOID:0050937 retroperitoneal neuroblastoma A retroperitoneal cancer that has_material_basis_in immature nerve cells. url:http://en.wikipedia.org/wiki/Neuroblastoma url:http://en.wiktionary.org/wiki/retroperitoneal A breast carcinoma that derives_from breast lobules (milk glands). lschriml 2014-10-22T13:05:34Z disease_ontology DOID:0050938 breast lobular carcinoma A breast carcinoma that derives_from breast lobules (milk glands). url:http://cancergenome.nih.gov/cancersselected/breastlobular url:http://www.cancer.gov/dictionary?CdrID=426416 A uterine corpus cancer that is derives_from the inner lining of the uterus. lschriml 2014-10-22T14:26:22Z disease_ontology DOID:0050939 uterine corpus endometrial carcinoma A uterine corpus cancer that is derives_from the inner lining of the uterus. url:http://cancergenome.nih.gov/cancersselected/endometrial An endocervical carcinoma that derives_from epithelial cells of glandular origin. lschriml 2014-10-24T15:51:48Z disease_ontology DOID:0050940 endocervical adenocarcinoma An endocervical carcinoma that derives_from epithelial cells of glandular origin. url:http://www.ncbi.nlm.nih.gov/pubmed/12207781 lschriml 2015-09-18T14:13:49Z OMIM:611302 disease_ontology DOID:0050941 spastic ataxia 2 lschriml 2015-09-18T14:13:49Z OMIM:611390 disease_ontology DOID:0050942 spastic ataxia 3 lschriml 2015-09-18T14:13:49Z OMIM:613672 disease_ontology DOID:0050943 spastic ataxia 4 lschriml 2015-09-18T14:13:49Z OMIM:614487 disease_ontology DOID:0050944 spastic ataxia 5 lschriml 2015-09-18T14:13:49Z OMIM:108650 disease_ontology DOID:0050945 spastic ataxia 7 lschriml 2015-09-18T14:13:49Z OMIM:270550 disease_ontology DOID:0050946 Charlevoix-Saguenay spastic ataxia A rickets that has_material_basis_in increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption and is characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain. lschriml 2015-10-01T12:10:26Z OMIM:241530 disease_ontology DOID:0050947 hereditary hypophosphatemic rickets with hypercalciuria A rickets that has_material_basis_in increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption and is characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain. url:http://www.omim.org/entry/241530?search=241530&highlight=241530 url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=17137&Disease_Disease_Search_diseaseGroup=rickets&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Hereditary-hypophosphatemic-rickets-with-hypercalciuria&title=Hereditary-hypophosphatemic-rickets-with-hypercalciuria&search=Disease_Search_Simple A rickets characterized by low levels of serum phosphate and elevated levels of ALP and phosphaturia and that has_material_basis_in autosomal dominant inheritance. lschriml 2015-10-01T12:10:30Z OMIM:193100 disease_ontology DOID:0050948 autosomal dominant hypophosphatemic rickets A rickets characterized by low levels of serum phosphate and elevated levels of ALP and phosphaturia and that has_material_basis_in autosomal dominant inheritance. url:http://www.ncbi.nlm.nih.gov/pubmed/26365554 url:http://www.omim.org/entry/193100?search=193100&highlight=193100 A rickets that has_material_basis_in autosomal recessive inheritance mutation in the DMP1 gene and is haracterized by hypophosphatemia, rickets and/or osteomalacia and slow growth. lschriml 2015-10-01T12:10:33Z OMIM:241520 OMIM:613312 disease_ontology DOID:0050949 autosomal recessive hypophosphatemic rickets A rickets that has_material_basis_in autosomal recessive inheritance mutation in the DMP1 gene and is haracterized by hypophosphatemia, rickets and/or osteomalacia and slow growth. url:http://www.omim.org/entry/241520?search=241520&highlight=241520 url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=20703&Disease_Disease_Search_diseaseGroup=rickets&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Autosomal-recessive-hypophosphatemic-rickets&title=Autosomal-recessive-hypophosphatemic-rickets&search=Disease_Search_Simple A hereditary ataxia that has_material_basis_in autosomal recessive inheritance. lschriml 2015-10-05T14:21:08Z disease_ontology DOID:0050950 autosomal recessive cerebellar ataxia A hereditary ataxia that has_material_basis_in autosomal recessive inheritance. url:http://www.ncbi.nlm.nih.gov/books/NBK1138/ A neurodegenerative disease that is characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. lschriml 2015-10-05T14:38:17Z disease_ontology DOID:0050951 hereditary ataxia A neurodegenerative disease that is characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. url:http://www.ncbi.nlm.nih.gov/books/NBK1138 lschriml 2015-10-05T14:39:34Z disease_ontology DOID:0050952 spastic ataxia lschriml 2015-10-05T15:41:09Z disease_ontology DOID:0050953 X-linked hereditary ataxia lschriml 2015-10-05T16:07:27Z OMIM:164400 disease_ontology DOID:0050954 spinocerebellar ataxia type 1 lschriml 2015-10-05T16:07:27Z OMIM:183090 disease_ontology DOID:0050955 spinocerebellar ataxia type 2 lschriml 2015-10-05T16:07:27Z OMIM:183086 disease_ontology DOID:0050956 spinocerebellar ataxia type 6 lschriml 2015-10-05T16:07:27Z disease_ontology DOID:0050957 spinocerebellar ataxia type 4 lschriml 2015-10-05T16:07:27Z OMIM:164500 disease_ontology DOID:0050958 spinocerebellar ataxia type 7 lschriml 2015-10-05T16:12:39Z OMIM:608768 disease_ontology DOID:0050959 spinocerebellar ataxia type 8 lschriml 2015-10-05T16:12:39Z OMIM:603516 disease_ontology DOID:0050960 spinocerebellar ataxia type 10 lschriml 2015-10-05T16:12:39Z OMIM:604432 disease_ontology DOID:0050961 spinocerebellar ataxia type 11 lschriml 2015-10-05T16:12:39Z OMIM:604326 disease_ontology DOID:0050962 spinocerebellar ataxia type 12 lschriml 2015-10-05T16:12:39Z OMIM:605259 disease_ontology DOID:0050963 spinocerebellar ataxia type 13 lschriml 2015-10-05T16:12:39Z OMIM:605361 disease_ontology DOID:0050964 spinocerebellar ataxia type 14 lschriml 2015-10-05T16:12:39Z OMIM:606658 disease_ontology DOID:0050965 spinocerebellar ataxia type 15 lschriml 2015-10-05T16:12:39Z disease_ontology DOID:0050966 spinocerebellar ataxia type 16 lschriml 2015-10-05T16:12:39Z OMIM:607136 disease_ontology DOID:0050967 spinocerebellar ataxia type 17 lschriml 2015-10-05T16:12:39Z OMIM:604121 disease_ontology DOID:0050968 autosomal dominant cerebellar ataxia, deafness and narcolepsy lschriml 2015-10-06T16:11:07Z OMIM:607458 disease_ontology DOID:0050969 spinocerebellar ataxia type 18 lschriml 2015-10-06T16:11:07Z OMIM:607346 disease_ontology DOID:0050970 spinocerebellar ataxia type 19/22 lschriml 2015-10-06T16:11:07Z OMIM:608687 disease_ontology DOID:0050971 spinocerebellar ataxia type 20 lschriml 2015-10-06T16:11:07Z OMIM:607454 disease_ontology DOID:0050972 spinocerebellar ataxia type 21 lschriml 2015-10-06T16:11:07Z OMIM:610245 disease_ontology DOID:0050973 spinocerebellar ataxia type 23 lschriml 2015-10-06T16:11:07Z OMIM:608703 disease_ontology DOID:0050974 spinocerebellar ataxia type 25 lschriml 2015-10-06T16:11:07Z OMIM:609306 disease_ontology DOID:0050975 spinocerebellar ataxia type 26 lschriml 2015-10-06T16:11:07Z OMIM:609307 disease_ontology DOID:0050976 spinocerebellar ataxia type 27 lschriml 2015-10-06T16:11:07Z OMIM:610246 disease_ontology DOID:0050977 spinocerebellar ataxia type 28 lschriml 2015-10-06T16:11:07Z OMIM:117360 disease_ontology DOID:0050978 spinocerebellar ataxia type 29 lschriml 2015-10-06T16:11:07Z OMIM:613371 disease_ontology DOID:0050979 spinocerebellar ataxia type 30 lschriml 2015-10-06T16:11:07Z OMIM:117210 disease_ontology DOID:0050980 spinocerebellar ataxia type 31 lschriml 2015-10-06T16:11:07Z OMIM:133190 disease_ontology DOID:0050981 spinocerebellar ataxia type 34 lschriml 2015-10-06T16:11:07Z OMIM:613908 disease_ontology DOID:0050982 spinocerebellar ataxia type 35 lschriml 2015-10-06T16:11:07Z OMIM:614153 disease_ontology DOID:0050983 spinocerebellar ataxia type 36 lschriml 2015-10-06T16:11:07Z OMIM:615945 disease_ontology DOID:0050984 spinocerebellar ataxia type 37 lschriml 2015-10-06T16:11:07Z OMIM:615957 disease_ontology DOID:0050985 spinocerebellar ataxia type 38 lschriml 2015-10-06T16:11:07Z OMIM:616053 disease_ontology DOID:0050986 spinocerebellar ataxia type 40 lschriml 2015-10-06T16:24:06Z disease_ontology DOID:0050987 hypomyelinating leukoencephalopathy lschriml 2015-10-06T16:24:06Z disease_ontology DOID:0050988 GRID2-related spinocerebellar ataxia lschriml 2015-10-06T16:26:26Z OMIM:160120 disease_ontology DOID:0050989 episodic ataxia type 1 lschriml 2015-10-06T16:26:26Z OMIM:108500 disease_ontology DOID:0050990 episodic ataxia type 2 lschriml 2015-10-06T16:26:26Z OMIM:606554 disease_ontology DOID:0050991 episodic ataxia type 3 lschriml 2015-10-06T16:26:26Z OMIM:606552 disease_ontology DOID:0050992 episodic ataxia type 4 lschriml 2015-10-06T16:26:26Z OMIM:613855 disease_ontology DOID:0050993 episodic ataxia type 5 lschriml 2015-10-06T16:26:26Z OMIM:612656 disease_ontology DOID:0050994 episodic ataxia type 6 lschriml 2015-10-06T16:26:26Z OMIM:611907 disease_ontology DOID:0050995 episodic ataxia type 7 lschriml 2015-10-07T13:38:56Z OMIM:616055 disease_ontology DOID:0050996 episodic ataxia type 8 An autosomal recessive cerebellar ataxia that is characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia. lschriml 2015-10-07T13:48:09Z OMIM:224050 OMIM:610185 OMIM:613227 OMIM:615268 CAMRQ disease_ontology DOID:0050997 cerebellar ataxia, mental retardation and dysequlibrium syndrome An autosomal recessive cerebellar ataxia that is characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia. url:http://www.ncbi.nlm.nih.gov/books/NBK1138/ url:http://www.omim.org/entry/224050?search=224050&highlight=224050 url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=1777&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=1766&Disease(s)/group%20of%20diseases=CAMRQ-syndrome&title=CAMRQ-syndrome&search=Disease_Search_Simple lschriml 2015-10-07T14:08:24Z OMIM:614756 disease_ontology DOID:0050998 nonprogressive cerebellar atxia with mental retardation lschriml 2015-10-07T14:43:23Z OMIM:613728 SCAR10 disease_ontology DOID:0050999 autosomal recessive spinocerebellar ataxia 10 An endocarditis that is characterized by inflammation of the endocardium caused by infectious agents. disease_ontology DOID:0060000 infective endocarditis An endocarditis that is characterized by inflammation of the endocardium caused by infectious agents. url:http://en.wikipedia.org/wiki/Infective_endocarditis url:http://wn.wikipedia.org/wiki/Endocarditis A substance-related disorder that occurs upon the abrupt discontinuation/separation or a decrease in dosage of the intake of medications, recreational drugs, and alcohol. disease_ontology DOID:0060001 withdrawal disorder A substance-related disorder that occurs upon the abrupt discontinuation/separation or a decrease in dosage of the intake of medications, recreational drugs, and alcohol. url:http://en.wikipedia.org/wiki/Withdrawal A complement deficiency that is a functional deficiency in the complement component C1 inhibitor leading to hereditary angioedema (HAE) involving swelling due to leakage of fluid from blood vessels into connective tissue. Quincke edema disease_ontology DOID:0060002 C1 inhibitor deficiency A complement deficiency that is a functional deficiency in the complement component C1 inhibitor leading to hereditary angioedema (HAE) involving swelling due to leakage of fluid from blood vessels into connective tissue. ls:IEDB url:http://en.wikipedia.org/wiki/C1-inhibitor#Role_in_disease An autoimmune disease of the central nervous system. disease_ontology DOID:0060004 autoimmune disease of central nervous system An autoimmune disease of the central nervous system. ls:IEDB A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system resulting in production of antibodies or T cells against cells and/or tissues in the endocrine system. disease_ontology DOID:0060005 autoimmune disease of endocrine system A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system resulting in production of antibodies or T cells against cells and/or tissues in the endocrine system. ls:IEDB A severe combined immunodeficiency that is caused when the DCLREI1, DNA cross-link repair 1C gene contains mutations resulting in the inability to repair DNA. disease_ontology DOID:0060006 artemis deficiency A severe combined immunodeficiency that is caused when the DCLREI1, DNA cross-link repair 1C gene contains mutations resulting in the inability to repair DNA. url:http://en.wikipedia.org/wiki/DCLRE1C A severe combined immunodeficiency that affects the development and function of T cells. disease_ontology DOID:0060007 CD3zeta deficiency A severe combined immunodeficiency that affects the development and function of T cells. url:http://bioinf.uta.fi/CD247base/ disease_ontology DOID:0060008 janus kinase-3 deficiency OMIM:604571 BLS, TYPE I BLSI HLA CLASS I DEFICIENCY bare lymphocyte syndrome type I disease_ontology DOID:0060009 OMIM mapping confirmed by DO. [SN]. MHC class I deficiency A severe combined immunodeficiency that has_material_basis in the RAG1 and RAG2 genes on chromosome 11p and the Artemis gene on chromosome 10p. It is characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly. ICD10CM:D81.8 OMIM:603554 combined immunodeficiency with hypereosinophilia DOID:0060010 Omenn syndrome A severe combined immunodeficiency that has_material_basis in the RAG1 and RAG2 genes on chromosome 11p and the Artemis gene on chromosome 10p. It is characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly. url:https://en.wikipedia.org/wiki/Omenn_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/11213808 url:https://www.ncbi.nlm.nih.gov/pubmed/14328107 A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes. disease_ontology DOID:0060011 recombinase activating gene 1 deficiency A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes. url:http://bioinf.uta.fi/RAG1base/ url:http://medicine.jrank.org/pages/2840/Severe-Combined-Immune-Deficiency.html A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes. disease_ontology DOID:0060012 recombinase activating gene 2 deficiency A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes. url:http://bioinf.uta.fi/RAG2base/ url:http://medicine.jrank.org/pages/2840/Severe-Combined-Immune-Deficiency.html A severe combined immunodeficiency that is a X-linked SCID that has material basis in mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells. DOID:5811 MESH:D053632 NCI:C4682 OMIM:300400 SNOMEDCT_US_2016_03_01:203592006 SNOMEDCT_US_2016_03_01:234569003 UMLS_CUI:C1279481 SCID-X1 X-Linked Severe Combined Immunodeficiency XSCID thymic epithelial hypoplasia disease_ontology DOID:0060013 OMIM mapping confirmed by DO. [LS]. gamma chain deficiency A severe combined immunodeficiency that is a X-linked SCID that has material basis in mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells. url:http://en.wikipedia.org/wiki/Severe_combined_immunodeficiency X-Linked Severe Combined Immunodeficiency NCI2004_11_17:C4682 A severe combined immunodeficiency that is an autosomal recessive disease with T and B lymphocyte dysfunction, due to a large deletion at one allelle and a point mutation at the other. The point mutation resulted in the alteration of intervening sequence 13 donor splice site. The population of T lymphocytes is diminished and unresponsive to mitogen stimulation. The level of B lymphocyte numbers, serum immunoglobulin decreased with age. disease_ontology DOID:0060014 CD45 deficiency A severe combined immunodeficiency that is an autosomal recessive disease with T and B lymphocyte dysfunction, due to a large deletion at one allelle and a point mutation at the other. The point mutation resulted in the alteration of intervening sequence 13 donor splice site. The population of T lymphocytes is diminished and unresponsive to mitogen stimulation. The level of B lymphocyte numbers, serum immunoglobulin decreased with age. url:http://bioinf.uta.fi/xml/idr/ff/FF6.xml A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus. IL-7R disease_ontology DOID:0060015 interleukin-7 receptor alpha deficiency A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus. url:http://bioinf.uta.fi/IL7Rbase/ A severe combined immunodeficiency that is characterized by the absence of T cells but normal numbers of B cells. CD3D is essential for T cell development. CD3D disease_ontology DOID:0060016 CD3delta deficiency A severe combined immunodeficiency that is characterized by the absence of T cells but normal numbers of B cells. CD3D is essential for T cell development. url:http://bioinf.uta.fi/CD3Dbase/ A severe combined immunodeficiency that is an autosomal recessive immunodeficiency that has material basis in mutations in the gene coding for T-cell surface glycoprotein CD3epsilon chain precursors. Patients with CD3epsilon deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. disease_ontology DOID:0060017 CD3epsilon deficiency A severe combined immunodeficiency that is an autosomal recessive immunodeficiency that has material basis in mutations in the gene coding for T-cell surface glycoprotein CD3epsilon chain precursors. Patients with CD3epsilon deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. url:http://bioinf.uta.fi/CD3Ebase/ A severe combined immunodeficiency an autosomal recessive immunodeficiency that has material basis in mutations in the gene coding for T-cell surface glycoprotein CD3gamma chain precursors. Patients with CD3gamma deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. Affected patients have decreased T-cell numbers and function; B cells are variably affected. disease_ontology DOID:0060018 CD3gamma deficiency A severe combined immunodeficiency an autosomal recessive immunodeficiency that has material basis in mutations in the gene coding for T-cell surface glycoprotein CD3gamma chain precursors. Patients with CD3gamma deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. Affected patients have decreased T-cell numbers and function; B cells are variably affected. url:http://bioinf.uta.fi/CD3Gbase/ A severe combined immunodeficiency that is an actin regulator when mutated results in SCID through inhibition of thymic egress of mature thymocytes into peripheral lymphoid organs. disease_ontology DOID:0060019 coronin-1A deficiency A severe combined immunodeficiency that is an actin regulator when mutated results in SCID through inhibition of thymic egress of mature thymocytes into peripheral lymphoid organs. url:http://www.ncbi.nlm.nih.gov/gene/11151?ordinalpos=2&itool=EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVDocSum url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2672406/?tool=pubmed A severe combined immunodeficiency that is the most severe form of SCID and has material basis in mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions. DOID:1226 MESH:C538361 NCI:C27070 OMIM:267500 SNOMEDCT_US_2016_03_01:111584000 UMLS_CUI:C0272167 De Vaal disease disease_ontology aleukocytosis DOID:0060020 OMIM mapping confirmed by DO. [SN]. reticular dysgenesis A severe combined immunodeficiency that is the most severe form of SCID and has material basis in mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions. url:http://www.ncbi.nlm.nih.gov/gene/11151?ordinalpos=2&itool=EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVDocSum url:http://www.ncbi.nlm.nih.gov/gene/204? A combined T cell and B cell immunodeficiency that has material basis in a mutation in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay. OMIM:606593 LIG4 Syndrome disease_ontology DOID:0060021 OMIM mapping confirmed by DO. [SN]. DNA ligase IV deficiency A combined T cell and B cell immunodeficiency that has material basis in a mutation in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay. url:http://omim.org/entry/606593 url:http://www.ncbi.nlm.nih.gov/gene/3981 A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE. HIGMX-1 X-linked hyper-IgM syndrome disease_ontology DOID:0060022 CD40 ligand deficiency A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE. url:http://bioinf.uta.fi/CD40Lbase/ url:http://content.karger.com/ProdukteDB/produkte.asp?Doi=236923 A combined T cell and B cell immunodeficiency that has material basis in mutation in the TNFRSF5 gene, resulting in type 3 hyper-IgM immunodeficiency characterized by an inability of B cells to undergo isotype switching, an inability to mount an antibody-specific immune response, and a lack of germinal center formation. OMIM:606843 ORDO:101090 hyper-IgM syndrome due to CD40 deficiency immunodeficiency with hyper-IgM type 3 type 3 hyper-IgM immunodeficiency disease_ontology DOID:0060023 CD40 deficiency A combined T cell and B cell immunodeficiency that has material basis in mutation in the TNFRSF5 gene, resulting in type 3 hyper-IgM immunodeficiency characterized by an inability of B cells to undergo isotype switching, an inability to mount an antibody-specific immune response, and a lack of germinal center formation. url:http://bioinf.uta.fi/CD40base/ A B cell deficiency that has material basis in mutations in the IGLL1 gene. Lambda 5 mutations an cause a block in B cell development at the transition between the pro-B cell and the pre-B cell stage. disease_ontology DOID:0060024 lambda 5 deficiency A B cell deficiency that has material basis in mutations in the IGLL1 gene. Lambda 5 mutations an cause a block in B cell development at the transition between the pro-B cell and the pre-B cell stage. url:http://bioinf.uta.fi/IGLL1base/ url:http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146770 url:http://www.ncbi.nlm.nih.gov/gene/3543? A B cell deficiency that is an autosomal recessive disorder that has material basis in mutation in the IgA (CD79 alpha) antigen receptor. MESH:D017098 OMIM:137100 OMIM:269650 OMIM:609529 ORDO:69127 SNOMEDCT_US_2016_03_01:29260007 UMLS_CUI:C0162538 IgA deficiency gamma-A-globulin deficiency disease_ontology DOID:0060025 Xref MGI. immunoglobulin alpha deficiency A B cell deficiency that is an autosomal recessive disorder that has material basis in mutation in the IgA (CD79 alpha) antigen receptor. url:http://bioinf.uta.fi/CD79Abase/ url:http://en.wikipedia.org/wiki/Selective_immunoglobulin_A_deficiency url:http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=112205 url:http://www.ncbi.nlm.nih.gov/gene/973? disease_ontology IgB deficiency DOID:0060026 immunoglobulin beta deficiency A hypobammaglobulinemia that is a B cell deficiency that has material basis in a mutation in a cytoplasmic linker or adaptor protein that plays a critical role in B cell development, the B cell linker protein (BLNK) gene. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. The BLNK gene is associated with intracellular calcium mobilization, essential for cell activation. B-cell linker protein deficiency BLNK deficiency disease_ontology DOID:0060027 B cell linker protein deficiency A hypobammaglobulinemia that is a B cell deficiency that has material basis in a mutation in a cytoplasmic linker or adaptor protein that plays a critical role in B cell development, the B cell linker protein (BLNK) gene. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. The BLNK gene is associated with intracellular calcium mobilization, essential for cell activation. url:http://bioinf.uta.fi/BLNKbase/ url:http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604515 url:http://www.ncbi.nlm.nih.gov/gene/2 An agammaglobulinemia that is a condition where there is co-occurrence of deficient cell-mediated immunity and benign thymoma. thymoma with hypogammaglobulinemia disease_ontology DOID:0060028 Good syndrome An agammaglobulinemia that is a condition where there is co-occurrence of deficient cell-mediated immunity and benign thymoma. url:http://en.wikipedia.org/wiki/Good_syndrome url:http://icvts.ctsnetjournals.org/cgi/reprint/9/4/750 An immune system disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the exocrine system. disease_ontology DOID:0060029 autoimmune disease of exocrine system An immune system disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the exocrine system. ls:IEDB A hypersensitivity reaction type II disease of the eyes, ears, nose and throat. disease_ontology DOID:0060030 autoimmune disease of eyes, ear, nose and throat A hypersensitivity reaction type II disease of the eyes, ears, nose and throat. ls:IEDB A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the gastrointestinal tract. disease_ontology DOID:0060031 autoimmune disease of gastrointestinal tract A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the gastrointestinal tract. ls:IEDB An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the musculoskeletal system. disease_ontology DOID:0060032 autoimmune disease of musculoskeletal system An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the musculoskeletal system. ls:IEDB An autoimmune disease of the nervous system that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the peripheral nervous system. disease_ontology DOID:0060033 autoimmune disease of peripheral nervous system An autoimmune disease of the nervous system that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the peripheral nervous system. ls:IEDB A disease that is present at birth due to a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. disease_ontology DOID:0060035 medical disorder true A disease that is present at birth due to a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. url:http://en.wikipedia.org/wiki/Diseases#Disorder url:http://www.medilexicon.com/medicaldictionary.php?t=25959 A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause. disease_ontology DOID:0060036 intrinsic cardiomyopathy A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause. url:http://www.princeton.edu/~achaney/tmve/wiki100k/docs/Cardiomyopathy.html A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development. disease_ontology DOID:0060037 developmental disorder of mental health A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development. url:http://en.wikipedia.org/wiki/Developmental_disorders A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination. disease_ontology DOID:0060038 specific developmental disorder A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination. url:http://en.wikipedia.org/wiki/Specific_developmental_disorder A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the skin and connective tissue. disease_ontology DOID:0060039 autoimmune disease of skin and connective tissue A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the skin and connective tissue. ls:IEDB A developmental disorder of mental health that refers to a group of five disorders characterized by impairments in socialization and communication, as well as restricted interests and repetitive behaviors. DOID:1208 ICD9CM:299.80 UMLS_CUI:C0154451 pervasive development disorder disease_ontology DOID:0060040 pervasive developmental disorder A developmental disorder of mental health that refers to a group of five disorders characterized by impairments in socialization and communication, as well as restricted interests and repetitive behaviors. url:http://www.ninds.nih.gov/disorders/pdd/pdd.htm A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior. disease_ontology DOID:0060041 autism spectrum disorder A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior. url:http://en.wikipedia.org/wiki/Autism_spectrum_disorder url:www.neurodevnet.ca An autism spectrum disorder that involves some autistic symptoms occuring after age 3 with an abscence of all the traits necessary for a diagnosis of autism. PDD NOS disease_ontology DOID:0060042 atypical autism An autism spectrum disorder that involves some autistic symptoms occuring after age 3 with an abscence of all the traits necessary for a diagnosis of autism. url:http://counsellingresource.com/distress/autistic/autism-atypical.html url:http://www.wisegeek.com/what-is-atypical-autism.htm url:www.neurodevnet.ca A disease of mental health that involves the impairment in normal sexual functioning. disease_ontology DOID:0060043 sexual disorder A disease of mental health that involves the impairment in normal sexual functioning. url:http://allpsych.com/disorders/sexual/index.html disease_ontology DOID:0060044 paraphilia disorder A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others. disease_ontology DOID:0060045 Munchausen by proxy A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others. url:http://en.wikipedia.org/wiki/Munchausen_by_proxy A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language. disease_ontology DOID:0060046 aphasia A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language. url:http://en.wikipedia.org/wiki/Aphasia A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition. disease_ontology DOID:0060047 writing disorder A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition. url:http://en.wikipedia.org/wiki/Learning_disability#Types_of_learning_disabilities A specific phobia that involves an irrational fear of contracting a disease. disease_ontology DOID:0060048 nosophobia A specific phobia that involves an irrational fear of contracting a disease. url:http://en.wikipedia.org/wiki/Nosophobia A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the urogenital tract. disease_ontology DOID:0060049 autoimmune disease of urogenital tract A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the urogenital tract. ls:IEDB A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the blood. disease_ontology DOID:0060050 autoimmune disease of blood A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the blood. ls:IEDB A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the cardiovascular system. disease_ontology DOID:0060051 autoimmune disease of cardiovascular system A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the cardiovascular system. ls:IEDB A physical disorder that is the result of structural, biochemical or electrical abnormalities in the brain or spinal cord, or in the nerves leading to or from them, can result in symptoms such as paralysis, muscle weakness, poor coordination, loss of sensation, seizures, confusion, pain and altered levels of consciousness. disease_ontology DOID:0060052 neurological disorder true A physical disorder that is the result of structural, biochemical or electrical abnormalities in the brain or spinal cord, or in the nerves leading to or from them, can result in symptoms such as paralysis, muscle weakness, poor coordination, loss of sensation, seizures, confusion, pain and altered levels of consciousness. ls:IEDB A neuropathy that is located_in nerves of the peripheral nervous system. disease_ontology DOID:0060053 obsolete peripheral neuropathy true A neuropathy that is located_in nerves of the peripheral nervous system. url:http://en.wikipedia.org/wiki/Sensory_neuropathy disease_ontology DOID:0060054 autonomic peripheral neuropathy An autosomal dominant disease characterized by abnormal development of the face, skin and genitals. Clinical expressions of the disease include cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. It has material basis in mutations in the IRF6 gene on chromosome 1. emitraka 2015-02-04T14:16:39Z MESH:C562509 NCI:C118786 OMIM:119500 OMIM:263650 ORDO:1300 ORDO:294963 SNOMEDCT_US_2016_03_01:205820002 SNOMEDCT_US_2016_03_01:66783006 UMLS_CUI:C0265259 facio-genito-popliteal syndrome popliteal web syndrome disease_ontology DOID:0060055 NT MGI. popliteal pterygium syndrome An autosomal dominant disease characterized by abnormal development of the face, skin and genitals. Clinical expressions of the disease include cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. It has material basis in mutations in the IRF6 gene on chromosome 1. ISBN:0-7216-2921-0 url:http://ghr.nlm.nih.gov/condition/popliteal-pterygium-syndrome url:http://www.ncbi.nlm.nih.gov/pubmed/?term=2352260 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=4384166 url:https://en.wikipedia.org/wiki/Popliteal_pterygium_syndrome An immune system disease that has material basis in abnormal immune responses. disease_ontology DOID:0060056 hypersensitivity reaction disease An immune system disease that has material basis in abnormal immune responses. url:http://en.wikipedia.org/wiki/Hypersensitivity url:http://physio.ucsf.edu/GEMS/courses/Immunology/materials/fa13_essential_immunology/090313_hypersensitivity_defranco.pdf url:http://www.ncbi.nlm.nih.gov/books/NBK27136/ allergy to gluten gluten allergic reaction disease_ontology DOID:0060057 gluten allergy A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs. DOID:1033 DOID:353 ICD10CM:C85.9 MESH:D008223 NCI:C3208 NCI:C7065 SNOMEDCT_US_2016_03_01:115244002 SNOMEDCT_US_2016_03_01:118600007 SNOMEDCT_US_2016_03_01:134218000 SNOMEDCT_US_2016_03_01:188676008 SNOMEDCT_US_2016_03_01:188694002 SNOMEDCT_US_2016_03_01:188695001 SNOMEDCT_US_2016_03_01:188704004 SNOMEDCT_US_2016_03_01:189959002 SNOMEDCT_US_2016_03_01:189965002 SNOMEDCT_US_2016_03_01:21964009 SNOMEDCT_US_2016_03_01:269627002 SNOMEDCT_US_2016_03_01:414628006 UMLS_CUI:C0024299 UMLS_CUI:C0598798 lymphoid cancer disease_ontology DOID:0060058 lymphoma A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs. url:http://en.wikipedia.org/wiki/Lymphoma url:http://www.lymphoma.org/site/pp.asp?c=bkLTKaOQLmK8E&b=6300161 url:http://www.nlm.nih.gov/medlineplus/lymphoma.html A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma. OMIM:605027 disease_ontology DOID:0060060 OMIM mapping confirmed by DO. [LS]. non-Hodgkin lymphoma A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma. url:http://en.wikipedia.org/wiki/Non-Hodgkin_lymphoma url:http://www.cancer.gov/dictionary?CdrID=45148 A non-Hodgkin's lymphoma that has material basis in a mutation of T cells. MESH:D016410 cutaneous T-cell lymphoma disease_ontology DOID:0060061 cutaneous T cell lymphoma A non-Hodgkin's lymphoma that has material basis in a mutation of T cells. url:http://en.wikipedia.org/wiki/Cutaneous_T-cell_lymphoma A kidney disease that is characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease. OMIM:162000 OMIM:613092 OMIM:614227 ORDO:209886 ORDO:217330 disease_ontology DOID:0060062 Xref MGI. OMIM mapping confirmed by DO. [LS]. familial juvenile hyperuricemic nephropathy A kidney disease that is characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease. url:http://www.ncbi.nlm.nih.gov/pubmed/21060763 OMIM:300751 XLSA disease_ontology DOID:0060063 OMIM mapping confirmed by DO. [LS]. X-linked sideroblastic anemia ASAT disease_ontology DOID:0060064 OMIM mapping confirmed by DO. [LS]. sideroblastic anemia with spinocerebellar ataxia OMIM:205950 disease_ontology DOID:0060065 OMIM mapping confirmed by DO. [LS]. pyridoxine-refractory autosomal recessive sideroblastic anemia OMIM:206000 disease_ontology DOID:0060066 OMIM mapping confirmed by DO. [LS]. pyridoxine-responsive sideroblastic anemia A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction. OMIM:557000 Pearson Marrow-Pancreas Syndrome disease_ontology DOID:0060067 OMIM mapping confirmed by DO. [LS]. Pearson syndrome A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction. url:http://en.wikipedia.org/wiki/Pearson_syndrome An endocarditis that results from the deposition of small sterile vegetations on valve leaflets. lschriml 2011-04-13T03:14:26Z non-bacterial thrombotic endocarditis disease_ontology DOID:0060068 marantic endocarditis An endocarditis that results from the deposition of small sterile vegetations on valve leaflets. url:http://en.wikipedia.org/wiki/Marantic_endocarditis lschriml 2011-04-15T11:41:26Z disease_ontology DOID:0060069 Bacillus cereus pneumonia true A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer. lschriml 2011-05-11T12:18:41Z disease_ontology DOID:0060071 pre-malignant neoplasm A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer. url:http://en.wikipedia.org/wiki/Neoplasm A disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize. lschriml 2011-05-11T12:18:41Z disease_ontology DOID:0060072 benign neoplasm A disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize. url:http://en.wikipedia.org/wiki/Benign_neoplasm url:http://www.nlm.nih.gov/medlineplus/benigntumors.html An immune system cancer that is located_in the lymphatic system and is characterized by uncontrolled cellular proliferation of lymphoid tissue. lschriml 2011-05-11T01:05:14Z disease_ontology DOID:0060073 lymphatic system cancer An immune system cancer that is located_in the lymphatic system and is characterized by uncontrolled cellular proliferation of lymphoid tissue. url:http://en.wikipedia.org/wiki/Lymphatic_system lschriml 2011-06-08T12:19:28Z disease_ontology DOID:0060074 ductal carcinoma in situ lschriml 2011-06-08T12:23:02Z disease_ontology DOID:0060075 estrogen-receptor positive breast cancer lschriml 2011-06-08T12:23:02Z disease_ontology DOID:0060076 estrogen-receptor negative breast cancer lschriml 2011-06-08T12:23:02Z disease_ontology DOID:0060077 progesterone-receptor positive breast cancer lschriml 2011-06-08T12:23:02Z disease_ontology DOID:0060078 progesterone-receptor negative breast cancer lschriml 2011-06-08T12:23:02Z disease_ontology DOID:0060079 Her2-receptor positive breast cancer lschriml 2011-06-08T12:23:02Z disease_ontology DOID:0060080 Her2-receptor negative breast cancer lschriml 2011-06-08T12:23:02Z disease_ontology DOID:0060081 triple-receptor negative breast cancer lschriml 2011-06-08T01:02:29Z disease_ontology DOID:0060082 breast benign neoplasm An organ system cancer located_in the immune system that is characterized by uncontrolled cellular proliferation in organs of the immune system. lschriml 2011-06-08T01:11:18Z disease_ontology DOID:0060083 immune system cancer An organ system cancer located_in the immune system that is characterized by uncontrolled cellular proliferation in organs of the immune system. url:http://en.wikipedia.org/wiki/Immune_system A benign neoplasm that is classified by the type of cell or tissue from which it is derived. lschriml 2011-07-14T11:59:48Z disease_ontology DOID:0060084 cell type benign neoplasm A benign neoplasm that is classified by the type of cell or tissue from which it is derived. url:http://en.wikipedia.org/wiki/Benign_tumor A benign neoplasm that is classified by the organ system from which it is arising from. lschriml 2011-07-14T12:12:23Z disease_ontology DOID:0060085 organ system benign neoplasm A benign neoplasm that is classified by the organ system from which it is arising from. url:http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.07d&code=C367 lschriml 2011-07-14T12:20:52Z disease_ontology DOID:0060086 female reproductive organ benign neoplasm lschriml 2011-07-14T12:20:52Z disease_ontology DOID:0060087 male reproductive organ benign neoplasm lschriml 2011-07-14T12:36:54Z disease_ontology DOID:0060088 vestibular gland benign neoplasm An organ system benign neoplasm that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body. lschriml 2011-07-14T01:45:15Z disease_ontology DOID:0060089 endocrine organ benign neoplasm An organ system benign neoplasm that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body. url:http://en.wikipedia.org/wiki/Endocrine_system lschriml 2011-07-14T01:45:15Z disease_ontology DOID:0060090 central nervous system organ benign neoplasm An organ system benign neoplasm disease located_in the blood, heart, blood vessels or the lymphatic system. lschriml 2011-07-14T01:45:15Z disease_ontology DOID:0060091 cardiovascular organ benign neoplasm An organ system benign neoplasm disease located_in the blood, heart, blood vessels or the lymphatic system. url:http://en.wikipedia.org/wiki/Cardiovascular_system#Human_cardiovascular_system An organ system benign neoplasm located_in the immune system organs. lschriml 2011-07-14T01:58:49Z disease_ontology DOID:0060092 immune system organ benign neoplasm An organ system benign neoplasm located_in the immune system organs. url:http://en.wikipedia.org/wiki/Immune_system A connective tissue benign neoplasm that is located_in bone. lschriml 2011-07-15T01:34:59Z disease_ontology DOID:0060094 bone benign neoplasm A connective tissue benign neoplasm that is located_in bone. url:http://en.wikipedia.org/wiki/Bone_tumor lschriml 2011-07-15T01:42:11Z DOID:0060113 disease_ontology DOID:0060095 uterine benign neoplasm A nervous system benign neoplasm that is located_in a sensory organ. lschriml 2011-07-15T01:45:26Z disease_ontology DOID:0060096 sensory organ benign neoplasm A nervous system benign neoplasm that is located_in a sensory organ. url:http://en.wikipedia.org/wiki/Sensory_system An organ system benign neoplam that is located_in the thoracic cavity. lschriml 2011-07-15T01:55:57Z disease_ontology DOID:0060097 thoracic benign neoplasm An organ system benign neoplam that is located_in the thoracic cavity. url:http://en.wikipedia.org/wiki/Thoracic_cavity lschriml 2011-07-15T02:14:40Z disease_ontology DOID:0060098 osteoblastoma An organ system benign neoplasm that is located_in the muscular and skeletal organs. lschriml 2011-07-15T02:28:52Z disease_ontology DOID:0060099 musculoskeletal system benign neoplasm An organ system benign neoplasm that is located_in the muscular and skeletal organs. url:http://en.wikipedia.org/wiki/Musculoskeletal_system An organ system cancer located_in the muscular and skeletal organs and characterized by uncontrolled cellular proliferation of the musculoskeletal organs. lschriml 2011-07-15T02:30:51Z DOID:0060124 skeletal system cancer disease_ontology DOID:0060100 musculoskeletal system cancer An organ system cancer located_in the muscular and skeletal organs and characterized by uncontrolled cellular proliferation of the musculoskeletal organs. url:http://en.wikipedia.org/wiki/Musculoskeletal_system#Diseases_and_disorders A cell type benign neoplasm that has_material_basis_in glial cells. lschriml 2011-07-19T01:27:04Z disease_ontology DOID:0060101 benign glioma A cell type benign neoplasm that has_material_basis_in glial cells. url:http://www.cancer.gov/dictionary?CdrID=45700 lschriml 2011-07-20T01:40:49Z disease_ontology DOID:0060102 cartilage cancer lschriml 2011-07-21T02:24:10Z disease_ontology DOID:0060103 central nervous system primitive neuroectodermal neoplasm A cerebellum cancer that begins in the lower part of the brain on the floor of the skull. lschriml 2011-07-21T02:28:01Z disease_ontology DOID:0060104 cerebellar medulloblastoma A cerebellum cancer that begins in the lower part of the brain on the floor of the skull. url:http://en.wikipedia.org/wiki/Medulloblastoma lschriml 2011-07-21T05:39:28Z disease_ontology DOID:0060106 brain meningioma A brain cancer that has_material_basis_in glial cells. lschriml 2011-07-22T12:42:50Z lower grade glioma disease_ontology DOID:0060108 brain glioma A brain cancer that has_material_basis_in glial cells. url:http://cancergenome.nih.gov/cancersselected/lowergradeglioma url:http://www.cancer.gov/dictionary?CdrID=45700 lschriml 2011-07-25T11:50:50Z disease_ontology DOID:0060109 vulvar benign neoplasm lschriml 2011-07-25T11:50:50Z disease_ontology DOID:0060110 cervical benign neoplasm lschriml 2011-07-25T11:50:50Z disease_ontology DOID:0060111 fallopian tube benign neoplasm lschriml 2011-07-25T11:50:50Z disease_ontology DOID:0060112 ovarian benign neoplasm lschriml 2011-07-25T11:50:50Z disease_ontology DOID:0060114 vaginal benign neoplasm An organ system benign neoplasm that is located_in the central nervous system or located_in the peripheral nervous system. lschriml 2011-07-25T12:47:43Z disease_ontology DOID:0060115 nervous system benign neoplasm An organ system benign neoplasm that is located_in the central nervous system or located_in the peripheral nervous system. url:http://en.wikipedia.org/wiki/Nervous_system A nervous system cancer that is located_in the sensory system. lschriml 2011-07-25T01:51:56Z disease_ontology DOID:0060116 sensory system cancer A nervous system cancer that is located_in the sensory system. url:http://en.wikipedia.org/wiki/Sensory_system An organ system benign neoplasm that is located_in the serous membrane lining the abdominal cavity or coelom. lschriml 2011-07-25T02:20:33Z disease_ontology DOID:0060117 peritoneal benign neoplasm An organ system benign neoplasm that is located_in the serous membrane lining the abdominal cavity or coelom. url:http://en.wikipedia.org/wiki/Peritoneal A disease of anatomical entity that is located_in the thoracic cavity. lschriml 2011-07-25T02:23:47Z disease_ontology DOID:0060118 thoracic disease A disease of anatomical entity that is located_in the thoracic cavity. url:http://en.wikipedia.org/wiki/Thoracic_cavity A gastrointestinal system cancer that is located_in the pharynx. lschriml 2011-07-27T01:26:34Z MESH:D010610 NCI:C3325 SNOMEDCT_US_2016_03_01:126685009 SNOMEDCT_US_2016_03_01:95001001 UMLS_CUI:C0031347 pharyngeal neoplasm pharynx neoplasm disease_ontology pharyngeal cancer DOID:0060119 pharynx cancer A gastrointestinal system cancer that is located_in the pharynx. url:http://en.wikipedia.org/wiki/Pharynx lschriml 2011-07-27T01:46:00Z disease_ontology DOID:0060120 skeletal system benign neoplasm true An organ system benign neoplasm located_in the integumentary system organs. lschriml 2011-07-27T01:49:44Z disease_ontology DOID:0060121 integumentary system benign neoplasm An organ system benign neoplasm located_in the integumentary system organs. url:http://en.wikipedia.org/wiki/Integumentary_system An organ system cancer that is located_in the skin, hair and nails. lschriml 2011-07-27T02:31:34Z disease_ontology DOID:0060122 integumentary system cancer An organ system cancer that is located_in the skin, hair and nails. url:http://en.wikipedia.org/wiki/Integumentary_system A musculoskeletal system benign neoplasm that is located_in connective tissue. lschriml 2011-07-27T02:35:57Z DOID:177 MESH:D012983 NCI:C3377 SNOMEDCT_US_2016_03_01:126600002 SNOMEDCT_US_2016_03_01:387837005 UMLS_CUI:C0037579 neoplasm of soft tissue neoplasm of soft tissues soft tissue benign neoplasm tumor of the soft tissue disease_ontology DOID:0060123 connective tissue benign neoplasm A musculoskeletal system benign neoplasm that is located_in connective tissue. url:http://en.wikipedia.org/wiki/Connective_tissue_neoplasm neoplasm of soft tissue SNOMEDCT_2005_07_31:387837005 neoplasm of soft tissues SNOMEDCT_2005_07_31:126600002 tumor of the soft tissue NCI2004_11_17:C3377 A hypersensitivity reaction type IV disease that results from a proliferation of cells producing immunoglobulin heavy chains. lschriml 2011-08-22T11:23:09Z ICD10CM:C88.2 MESH:D006362 NCI:C3082 NCI:C3083 NCI:C3892 SNOMEDCT_US_2016_03_01:109984001 SNOMEDCT_US_2016_03_01:123062004 SNOMEDCT_US_2016_03_01:190011009 SNOMEDCT_US_2016_03_01:190820001 SNOMEDCT_US_2016_03_01:5440009 SNOMEDCT_US_2016_03_01:61493004 SNOMEDCT_US_2016_03_01:6381009 SNOMEDCT_US_2016_03_01:68979007 UMLS_CUI:C0018852 UMLS_CUI:C0018854 UMLS_CUI:C0242310 disease_ontology DOID:0060125 heavy chain disease A hypersensitivity reaction type IV disease that results from a proliferation of cells producing immunoglobulin heavy chains. url:http://en.wikipedia.org/wiki/Heavy_chain_disease A heavy chain disease that results from an overproduction of alpha antibodies (IgA). lschriml 2011-08-22T11:23:09Z Seligmann's disease disease_ontology DOID:0060126 alpha chain disease A heavy chain disease that results from an overproduction of alpha antibodies (IgA). url:http://en.wikipedia.org/wiki/Heavy_chain_disease A heavy chain disease that results from an overproduction of gamma antibody (IgG). lschriml 2011-08-22T11:23:09Z Franklin's disease disease_ontology DOID:0060127 gamma heavy chain disease A heavy chain disease that results from an overproduction of gamma antibody (IgG). url:http://rarediseases.info.nih.gov/GARD/Condition/10346/Gamma_heavy_chain_disease.aspx A heavy chain disease that results from an overproduction of mu antibody (IgM). lschriml 2011-08-22T11:23:09Z disease_ontology DOID:0060128 mu chain disease A heavy chain disease that results from an overproduction of mu antibody (IgM). url:http://en.wikipedia.org/wiki/Heavy_chain_disease A heavy chain disease that results from an overproduction of delta antibody (IgD). lschriml 2011-08-22T11:23:09Z disease_ontology DOID:0060129 delta chain disease A heavy chain disease that results from an overproduction of delta antibody (IgD). url:http://en.wikipedia.org/wiki/Heavy_chain_disease An agnosia that is a loss of motion perception. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060130 akinetopsia An agnosia that is a loss of motion perception. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a deficiency in understanding, processing, or describing emotions. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060131 alexithymia An agnosia that is a deficiency in understanding, processing, or describing emotions. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals. lschriml 2011-08-22T12:04:56Z receptive amusia disease_ontology DOID:0060132 amusia An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060133 anosognosia An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to distinguish visual shapes. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060134 apperceptive agnosia An agnosia that is a loss of the ability to distinguish visual shapes. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060135 apraxia An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the abilty to describe them. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060136 associative agnosia An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the abilty to describe them. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to distinguishing environmental and non-verbal auditory cues including difficulty distinguishing speech from non-speech sounds even though hearing is usually normal. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060137 auditory agnosia An agnosia that is a loss of the ability to distinguishing environmental and non-verbal auditory cues including difficulty distinguishing speech from non-speech sounds even though hearing is usually normal. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to orient parts of the body. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060138 autotopagnosia An agnosia that is a loss of the ability to orient parts of the body. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060139 color agnosia An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060140 cortical deafness An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to distinguish the fingers on the hand. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060141 finger agnosia An agnosia that is a loss of the ability to distinguish the fingers on the hand. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060142 form agnosia An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to integrate these elements together into comprehensible perceptual wholes while recognizing elements of the whole. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060143 integrative agnosia An agnosia that is a loss of the ability to integrate these elements together into comprehensible perceptual wholes while recognizing elements of the whole. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060144 mirror agnosia An agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to perceive and process pain. lschriml 2011-08-22T12:04:56Z analgesia disease_ontology DOID:0060145 pain agnosia An agnosia that is a loss of the ability to perceive and process pain. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to recognize familiar voices. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060146 phonagnosia An agnosia that is a loss of the ability to recognize familiar voices. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to visually recognise an object while maintaining the use of non-visual sensory systems such as feeling, tapping, smelling, rocking or flicking the object to recognise the object. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060147 semantic agnosia An agnosia that is a loss of the ability to visually recognise an object while maintaining the use of non-visual sensory systems such as feeling, tapping, smelling, rocking or flicking the object to recognise the object. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to recgonize a whole image or scene while retianing the ability to recognize objects or details in their visual field one at a time. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060148 simultanagnosia An agnosia that is a loss of the ability to recgonize a whole image or scene while retianing the ability to recognize objects or details in their visual field one at a time. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to perceive facial expression, body language and intonation, rendering them unable to non-verbally perceive people's emotions and limiting that aspect of social interaction. lschriml 2011-08-22T12:04:56Z expressive agnosia disease_ontology DOID:0060149 social emotional agnosia An agnosia that is a loss of the ability to perceive facial expression, body language and intonation, rendering them unable to non-verbally perceive people's emotions and limiting that aspect of social interaction. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight. lschriml 2011-08-22T12:04:56Z somatosensory agnosia disease_ontology DOID:0060150 astereognosia An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to recognize or identify objects by touch alone. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060151 tactile agnosia An agnosia that is a loss of the ability to recognize or identify objects by touch alone. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to comprehend the succession and duration of events. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060152 time agnosia An agnosia that is a loss of the ability to comprehend the succession and duration of events. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to rely on visual cues to guide them directionally due to the inability to recognise objects. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060153 topographical agnosia An agnosia that is a loss of the ability to rely on visual cues to guide them directionally due to the inability to recognise objects. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to recognising spoken words as semantically meaningful. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060154 verbal auditory agnosia An agnosia that is a loss of the ability to recognising spoken words as semantically meaningful. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to visually recognize objects. lschriml 2011-08-22T12:04:56Z MESH:C531604 UMLS_CUI:C2930796 disease_ontology DOID:0060155 visual agnosia An agnosia that is a loss of the ability to visually recognize objects. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to comprehending the meaning of written words. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060156 visual verbal agnosia An agnosia that is a loss of the ability to comprehending the meaning of written words. url:http://en.wikipedia.org/wiki/Agnosia An alopecia areata that involves diffuse loss of hair over the whole scalp. lschriml 2011-08-22T03:45:02Z MESH:C531609 SNOMEDCT_US_2016_03_01:201138007 SNOMEDCT_US_2016_03_01:403331000 UMLS_CUI:C0406458 UMLS_CUI:C1274706 UMLS_CUI:C1862862 UMLS_CUI:C2936778 UMLS_CUI:C3179487 UMLS_CUI:C3179488 UMLS_CUI:C3179489 disease_ontology DOID:0060157 diffuse alopecia areata An alopecia areata that involves diffuse loss of hair over the whole scalp. url:http://en.wikipedia.org/wiki/Alopecia_areata A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption. lschriml 2011-08-24T02:53:03Z disease_ontology DOID:0060158 acquired metabolic disease A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption. url:http://en.wikipedia.org/wiki/Inborn_error_of_metabolism url:http://www.ncbi.nlm.nih.gov/mesh/68008659 An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids. lschriml 2011-08-26T11:17:14Z organic acid metabolism disorder organic aciduria disease_ontology DOID:0060159 organic acidemia An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids. url:http://en.wikipedia.org/wiki/Aciduria A spinal muscular atrophy that is associated with the survival of motor neuron protein. lschriml 2011-08-29T01:15:14Z ICD10CM:G12.0 ICD9CM:335.0 ICD9CM:335.11 MESH:D014897 NCI:C118847 NCI:C85076 NCI:C98670 SNOMEDCT_US_2016_03_01:128212001 SNOMEDCT_US_2016_03_01:155016008 SNOMEDCT_US_2016_03_01:267694009 SNOMEDCT_US_2016_03_01:54280009 SNOMEDCT_US_2016_03_01:64383006 UMLS_CUI:C0043116 UMLS_CUI:C0152109 UMLS_CUI:C0393538 UMLS_CUI:C0700595 spinal muscular atrophies of childhood disease_ontology DOID:0060160 survival motor neuron spinal muscular atrophy A spinal muscular atrophy that is associated with the survival of motor neuron protein. url:http://en.wikipedia.org/wiki/Survival_motor_neuron_spinal_muscular_atrophy A spinal muscular dystrophy that has_material_basis_in an X-linked recessive expansion of CAG triplet repeats (glutamine) in exon 1 of AR gene encoding the androgen receptor. lschriml 2011-08-29T01:31:03Z MESH:D055534 NCI:C85233 OMIM:313200 SNOMEDCT_US_2016_03_01:230253001 UMLS_CUI:C1839259 Kennedy disease SBMA Spinobulbar Muscular Atrophy X-Linked Bulbo-Spinal Atrophy X-linked Spinal and Bulbar Muscular Atrophy spinal bulbar muscular atrophy disease_ontology DOID:0060161 Kennedy's disease A spinal muscular dystrophy that has_material_basis_in an X-linked recessive expansion of CAG triplet repeats (glutamine) in exon 1 of AR gene encoding the androgen receptor. url:http://en.wikipedia.org/wiki/Kennedy_disease An autosomal dominant cerebellar ataxia that has_material_basis_in expansion of CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein. lschriml 2011-08-29T01:41:48Z MESH:D020191 NCI:C122653 NCI:C7636 OMIM:125370 SNOMEDCT_US_2016_03_01:192844008 SNOMEDCT_US_2016_03_01:267581004 SNOMEDCT_US_2016_03_01:68116008 SNOMEDCT_US_2016_03_01:702422004 SNOMEDCT_US_2016_03_01:89480000 UMLS_CUI:C0751776 UMLS_CUI:C0751777 UMLS_CUI:C0751778 UMLS_CUI:C0751779 UMLS_CUI:C0751780 UMLS_CUI:C0751781 UMLS_CUI:C0751782 DRPLA Haw River Syndrome Naito-Oyanagi disease disease_ontology DOID:0060162 dentatorubral-pallidoluysian atrophy An autosomal dominant cerebellar ataxia that has_material_basis_in expansion of CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein. url:http://en.wikipedia.org/wiki/Dentatorubral-pallidoluysian_atrophy A somatoform disorder that involves an excessive concern about and preoccupation with a perceived defect in his or her physical features (body image). lschriml 2011-09-07T01:38:34Z body dysmorphia dysmorphic syndrome dysmorphophobia disease_ontology DOID:0060163 body dysmorphic disorder A somatoform disorder that involves an excessive concern about and preoccupation with a perceived defect in his or her physical features (body image). url:http://en.wikipedia.org/wiki/Body_dysmorphic_disorder A somatoform disorder that involves chronic pain in one or more areas, and is thought to be caused by psychological stress. lschriml 2011-09-07T01:42:46Z disease_ontology DOID:0060164 pain disorder A somatoform disorder that involves chronic pain in one or more areas, and is thought to be caused by psychological stress. url:http://en.wikipedia.org/wiki/Pain_disorder A recurrent hypersomnia that is characterized by recurring periods of excessive amounts of sleep and altered behavior. lschriml 2011-09-07T02:46:02Z disease_ontology DOID:0060165 Kleine-Levin syndrome A recurrent hypersomnia that is characterized by recurring periods of excessive amounts of sleep and altered behavior. url:http://en.wikipedia.org/wiki/Kleine-Levin_syndrome A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes. lschriml 2011-09-09T02:27:46Z disease_ontology DOID:0060166 bipolar ll disorder A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes. url:http://en.wikipedia.org/wiki/Bipolar_II A mental depression that involves presentation of depressive symptoms only during a specific season of the year. lschriml 2011-09-09T02:53:18Z winter depression disease_ontology DOID:0060167 seasonal affective disorder A mental depression that involves presentation of depressive symptoms only during a specific season of the year. url:http://en.wikipedia.org/wiki/Seasonal_affective_disorder A histidine metabolism disease that involves a deficiency of the enzyme histidase. lschriml 2011-09-20T12:47:05Z histidinuria disease_ontology DOID:0060168 histidinemia A histidine metabolism disease that involves a deficiency of the enzyme histidase. url:http://en.wikipedia.org/wiki/Histidinemia An infancy electroclinical syndrome that is characterized by convulsions, with onset at age 3 to 12 months. lschriml 2011-10-28T02:55:02Z OMIM:601764 OMIM:605751 OMIM:607745 OMIM:612627 ORDO:306 BFIC BFIE benign familial infantile convulsion benign familial infantile seizures disease_ontology DOID:0060169 Xref MGI. benign familial infantile epilepsy An infancy electroclinical syndrome that is characterized by convulsions, with onset at age 3 to 12 months. url:http://www.ncbi.nlm.nih.gov/pubmed/12503648 An idiopathic generalized epilepsy that is characterized by febrile seizures often with accessory afebrile generalized tonic-clonic seizures with childhood onset. lschriml 2011-10-28T02:57:50Z ICD10CM:G40.3 OMIM:604233 OMIM:604403 OMIM:609800 OMIM:611277 OMIM:612279 OMIM:613828 OMIM:613863 ORDO:36387 GEFS+ disease_ontology DOID:0060170 Xref MGI. generalized epilepsy with febrile seizures plus An idiopathic generalized epilepsy that is characterized by febrile seizures often with accessory afebrile generalized tonic-clonic seizures with childhood onset. url:http://www.ncbi.nlm.nih.gov/pubmed/22011963 An epilepsy that is characterized by frequent febrile seizures with onset before 1 year. lschriml 2011-10-28T03:14:46Z OMIM:607208 SMEI severe myoclonic epilepsy in infancy disease_ontology DOID:0060171 Dravet syndrome An epilepsy that is characterized by frequent febrile seizures with onset before 1 year. url:http://dravet.org/about-dravet/smei url:http://www.ninds.nih.gov/disorders/dravet_syndrome/dravet_syndrome.htm An adolescence-adult electroclinical syndrome statring between the age of ten to 17 years characterized by the occurrence of typical absence seizures. lschriml 2011-11-08T10:42:18Z disease_ontology DOID:0060172 juvenile absence epilepsy An adolescence-adult electroclinical syndrome statring between the age of ten to 17 years characterized by the occurrence of typical absence seizures. JA:Epilepsy Genetics Kiel url:http://www.ilae-epilepsy.org An autosomal dominant disease that is characterized by cardiac, hand/foot, facial, and neurodevelopmental features. The two forms are type 1 (classic) and type 2, a rare form that has_material_basis_in mutations in a transcript variant of CACNA1C on chromosome 12p13.33. lschriml 2011-11-08T12:52:33Z DOID:0110649 ICD10CM:G72.3 OMIM:601005 ORDO:65283 ORDO:768 disease_ontology DOID:0060173 Timothy syndrome An autosomal dominant disease that is characterized by cardiac, hand/foot, facial, and neurodevelopmental features. The two forms are type 1 (classic) and type 2, a rare form that has_material_basis_in mutations in a transcript variant of CACNA1C on chromosome 12p13.33. url:http://www.ncbi.nlm.nih.gov/books/NBK1403/ url:https://www.ncbi.nlm.nih.gov/pubmed/15863612 url:https://ghr.nlm.nih.gov/condition/timothy-syndrome A gamma-amino butyric acid metabolism disorder that is characterized by a defect in the gene coding for gamma-aminobutyrate transaminase, which is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. lschriml 2011-11-08T01:52:22Z OMIM:613163 Gamma-amino butyric acid transaminase deficiency gamma-aminobutyric acid transaminase deficiency disease_ontology DOID:0060174 GABA aminotransferase deficiency A gamma-amino butyric acid metabolism disorder that is characterized by a defect in the gene coding for gamma-aminobutyrate transaminase, which is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. url:http://pathman.smpdb.ca/pathways/SMP00351/pathway url:http://www.pndassoc.org/atf/cf/%7BC3CD1AA0-3DB0-43D2-ADA5-F1509D3000DE%7D/Pearl.pdf A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid. lschriml 2011-11-08T02:02:12Z 4-hydroxybutyric aciduria SSADH gamma-hydroxybutyric aciduria disease_ontology DOID:0060175 succinic semialdehyde dehydrogenase deficiency A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid. url:http://en.wikipedia.org/wiki/Succinic_semialdehyde_dehydrogenase_deficiency#Mechanism An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway. lschriml 2011-11-08T02:02:12Z disease_ontology DOID:0060176 gamma-amino butyric acid metabolism disorder An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway. url:http://www.ncbi.nlm.nih.gov/pubmed/12891648 A gamma-amino butyric acid metabolism disorder that is characterized by an excess of homocarnosine in the brain and has_material_basis_in a deficiency of serum carnosinase in its ability to hydrolyze homocarnosine. lschriml 2011-11-08T02:02:12Z disease_ontology DOID:0060177 homocarnosinosis A gamma-amino butyric acid metabolism disorder that is characterized by an excess of homocarnosine in the brain and has_material_basis_in a deficiency of serum carnosinase in its ability to hydrolyze homocarnosine. url:http://en.wikipedia.org/wiki/Carnosinemia url:http://www.pndassoc.org/atf/cf/%7BC3CD1AA0-3DB0-43D2-ADA5-F1509D3000DE%7D/Pearl.pdf A migraine with aura that is characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). Additional features of an aura can include difficulty with speech, confusion, and drowsiness. lschriml 2011-11-08T02:54:32Z ICD10CM:G43.8 ICD9CM:346.8 OMIM:141500 OMIM:300125 OMIM:602481 OMIM:607516 OMIM:609634 ORDO:569 SNOMEDCT_US_2016_03_01:193037008 SNOMEDCT_US_2016_03_01:193040008 SNOMEDCT_US_2016_03_01:194493009 UMLS_CUI:C0477373 disease_ontology DOID:0060178 Xref MGI. familial hemiplegic migraine A migraine with aura that is characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). Additional features of an aura can include difficulty with speech, confusion, and drowsiness. url:http://ghr.nlm.nih.gov/condition/familial-hemiplegic-migraine An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males. lschriml 2011-11-08T03:21:30Z ICD10CM:Q87.5 OMIM:309500 ORDO:3242 Golabi-Ito-Hall syndrome Sutherland-Haan X-linked mental retardation syndrome X-linked intellectual disability due to PQBP1 mutations X-linked intellectual disability, Renpenning type X-linked mental retardation Renpenning type X-linked mental retardation with spastic diplegia syndromic X-linked mental retardation 8 disease_ontology DOID:0060179 Renpenning syndrome An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males. url:http://en.wikipedia.org/wiki/Renpenning%27s_syndrome An inflammatory bowel disease that involves inflammation located_in colon. emitraka 2014-09-12T14:31:45Z EFO:0003872 ICD10CM:K52.9 MESH:D003092 NCI:C26723 OMIM:191390 SNOMEDCT:64226004 SNOMEDCT_US_2016_03_01:64226004 UMLS_CUI:C0009319 disease_ontology DOID:0060180 colitis An inflammatory bowel disease that involves inflammation located_in colon. url:http://en.wikipedia.org/wiki/Colitis A colitis caused_by inadequate blood supply to the colon. emitraka 2014-09-12T14:36:51Z ICD10CM:K55.9 MESH:D017091 SNOMEDCT:30588004 SNOMEDCT_US_2016_03_01:30588004 UMLS_CUI:C0162529 disease_ontology DOID:0060181 ischemic colitis A colitis caused_by inadequate blood supply to the colon. url:http://en.wikipedia.org/wiki/Ischemic_colitis url:http://www.mayoclinic.org/diseases-conditions/ischemic-colitis/basics/definition/con-20026677 A colitis that can only be diagnosed_by the examination of colon tissue under a microscope. emitraka 2014-09-12T14:49:18Z MESH:D046728 NCI:C38504 ORDO:58220 SNOMEDCT:235753003 SNOMEDCT_US_2016_03_01:235753003 UMLS_CUI:C0400821 disease_ontology DOID:0060182 microscopic colitis A colitis that can only be diagnosed_by the examination of colon tissue under a microscope. url:http://digestive.niddk.nih.gov/ddiseases/pubs/microcolitis/index.aspx url:http://en.wikipedia.org/wiki/Microscopic_colitis url:http://www.mayoclinic.org/diseases-conditions/microscopic-colitis/basics/definition/con-20026232 A colitis characterized by a distinctive thickening of the subepithelial collagen table. emitraka 2014-09-12T14:56:28Z ICD10CM:K52.89 MESH:D046729 MedDRA:10048928 NCI:C27021 SNOMEDCT:19311003 SNOMEDCT_US_2016_03_01:19311003 UMLS_CUI:C0238067 disease_ontology DOID:0060183 Has peak incidence in the 5th decade of life, affecting women more than men and a normal colonoscopy but abnormal histopathology on biopsy. collagenous colitis A colitis characterized by a distinctive thickening of the subepithelial collagen table. url:http://digestive.niddk.nih.gov/ddiseases/pubs/microcolitis/index.aspx url:http://en.wikipedia.org/wiki/Collagenous_colitis A colitis characterized by an accumulation of lymphocytes in the colonic epithelium and connective tissue (lamina propria). emitraka 2014-09-12T14:58:50Z ICD10CM:K52.89 MESH:D046730 MedDRA:10025268 NCI:C27147 ORDO:65279 SNOMEDCT_US_2016_03_01:31437008 UMLS_CUI:C0400822 disease_ontology DOID:0060184 The peak incidence of lymphocytic colitis is in persons over age 50; the disease affects women and men equally. lymphocytic colitis A colitis characterized by an accumulation of lymphocytes in the colonic epithelium and connective tissue (lamina propria). url:http://digestive.niddk.nih.gov/ddiseases/pubs/microcolitis/index.aspx url:http://en.wikipedia.org/wiki/Lymphocytic_colitis A colitis characterized by an overgrowth of Clostridium difficile bacteria. emitraka 2014-09-12T15:01:17Z ICD10CM:A04.7 MESH:D004761 MedDRA:10009657 SNOMEDCT:423590009 SNOMEDCT_US_2016_03_01:155783000 SNOMEDCT_US_2016_03_01:197019008 SNOMEDCT_US_2016_03_01:197033008 SNOMEDCT_US_2016_03_01:197124009 SNOMEDCT_US_2016_03_01:235752008 SNOMEDCT_US_2016_03_01:266525002 SNOMEDCT_US_2016_03_01:397683000 SNOMEDCT_US_2016_03_01:397696004 SNOMEDCT_US_2016_03_01:51180003 UMLS_CUI:C0014358 UMLS_CUI:C0085819 UMLS_CUI:C1257843 UMLS_CUI:C1257844 UMLS_CUI:C1257845 Pseudomembranous colitis disease_ontology DOID:0060185 Clostridium difficile colitis A colitis characterized by an overgrowth of Clostridium difficile bacteria. url:http://en.wikipedia.org/wiki/Clostridium_difficile_colitis url:http://www.nlm.nih.gov/medlineplus/ency/article/000259.htm Pseudomembranous colitis MESH:D004761 A colitis caused_by introduction of various chemicals. emitraka 2014-09-12T15:08:50Z ICD10CM:K52 ICD9CM:558 ICD9CM:558.9 SNOMEDCT:72965009 UMLS_CUI:C0029512 disease_ontology DOID:0060186 chemical colitis A colitis caused_by introduction of various chemicals. url:http://en.wikipedia.org/wiki/Chemical_colitis url:http://www.ncbi.nlm.nih.gov/pubmed/18209577 A colitis caused_by diversion of the fecal stream due to complication of ileostomy or colostomy. emitraka 2014-09-12T15:14:29Z ICD10CM:K52 ICD9CM:558 ICD9CM:558.9 SNOMEDCT:51290000 UMLS_CUI:C0029512 disease_ontology DOID:0060187 diversion colitis A colitis caused_by diversion of the fecal stream due to complication of ileostomy or colostomy. url:http://en.wikipedia.org/wiki/Diversion_colitis url:http://www.ncbi.nlm.nih.gov/pubmed/1916483 An inflammatory bowel disease that is characterized by patchy areas of inflammation located_in jejunum, has_symptom abdominal pain, has_symptom diarrhea, has_symptom cramps and has_symptom formation of fistulas. emitraka 2014-09-15T10:51:02Z ICD10CM:K50.0 disease_ontology DOID:0060188 jejunoileitis An inflammatory bowel disease that is characterized by patchy areas of inflammation located_in jejunum, has_symptom abdominal pain, has_symptom diarrhea, has_symptom cramps and has_symptom formation of fistulas. url:http://en.wikipedia.org/wiki/Crohn%27s_disease url:http://www.ccfa.org/what-are-crohns-and-colitis/what-is-crohns-disease/types-of-crohns-disease.html url:http://www.ncbi.nlm.nih.gov/pubmed/15973125 An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss. emitraka 2014-09-15T11:40:07Z CSP:1248-5305 ICD10CM:K52.9 MESH:D007079 MedDRA:10021312 NCI:C84782 NDFRT:N0000001662 SNOMEDCT:52457000 SNOMEDCT_US_2016_03_01:52457000 UMLS_CUI:C0020877 Crohn's ileitis disease_ontology DOID:0060189 ileitis An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss. url:http://en.wikipedia.org/wiki/Ileitis url:http://www.ccfa.org/what-are-crohns-and-colitis/what-is-crohns-disease/types-of-crohns-disease.html An inflammatory bowel disease characterized by inflammation located_in colon and located_in ileum, has_symptom diarrhea, has_symptom weight loss, has_symptom abdominal pain in middle or lower right part. emitraka 2014-09-15T12:22:19Z ICD10CM:K52.9 MedDRA:10062647 disease_ontology DOID:0060190 OWL classification. ileocolitis An inflammatory bowel disease characterized by inflammation located_in colon and located_in ileum, has_symptom diarrhea, has_symptom weight loss, has_symptom abdominal pain in middle or lower right part. url:http://www.ccfa.org/what-are-crohns-and-colitis/what-is-crohns-disease/types-of-crohns-disease.html An inflammatory bowel disease characterized by inflammation located_in stomach and located_in duodenum, has_symptom nausea, has_symptom vomiting, has_symptom weight loss and has_symptom loss of appetite. emitraka 2014-09-15T12:35:28Z ICD10CM:K50.0 upper GI Crohn's disease disease_ontology DOID:0060191 gastroduodenal Crohn's disease An inflammatory bowel disease characterized by inflammation located_in stomach and located_in duodenum, has_symptom nausea, has_symptom vomiting, has_symptom weight loss and has_symptom loss of appetite. url:http://en.wikipedia.org/wiki/Crohn%27s_disease url:http://www.bidmc.org/Centers-and-Departments/Departments/Digestive-Disease-Center/Inflammatory-Bowel-Disease-Program/Crohns-Disease/What-are-the-types-of-Crohns-disease.aspx url:http://www.ccfa.org/what-are-crohns-and-colitis/what-is-crohns-disease/types-of-crohns-disease.html url:http://www.ncbi.nlm.nih.gov/pubmed/12769447 An inflammatory bowel disease characterized by inflammation located_in colon only, has_symptom diarrhea, has_symptom rectal bleeding, has_symptom skin lesions and has_symptom formation of ulcers, fistulas and abscesses around the anus. emitraka 2014-09-15T12:50:24Z ICD10CM:K50.1 ICD9CM:555.1 MESH:D003424 NCI:C35211 NCI:C37262 SNOMEDCT_US_2016_03_01:155762006 SNOMEDCT_US_2016_03_01:196981009 SNOMEDCT_US_2016_03_01:196982002 SNOMEDCT_US_2016_03_01:266446008 SNOMEDCT_US_2016_03_01:50440006 SNOMEDCT_US_2016_03_01:7620006 UMLS_CUI:C0156147 disease_ontology DOID:0060192 OWL classification. Crohn's colitis An inflammatory bowel disease characterized by inflammation located_in colon only, has_symptom diarrhea, has_symptom rectal bleeding, has_symptom skin lesions and has_symptom formation of ulcers, fistulas and abscesses around the anus. url:http://en.wikipedia.org/wiki/Crohn%27s_disease url:http://www.ccfa.org/what-are-crohns-and-colitis/what-is-crohns-disease/types-of-crohns-disease.html The most common type of familial ALS that has material basis in mutation in the SOD1 gene on chromosome 21. emitraka 2014-09-16T13:04:32Z ICD10CM:G12.2 OMIM:105400 ALS1 amyotrophic lateral sclerosis 1 disease_ontology DOID:0060193 amyotrophic lateral sclerosis type 1 The most common type of familial ALS that has material basis in mutation in the SOD1 gene on chromosome 21. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis ALS1 OMIM:105400 amyotrophic lateral sclerosis 1 OMIM:105400 An amyotrophic lateral sclerosis that has material basis in mutation in the alsin gene on chromosome 2. emitraka 2014-09-16T13:12:14Z ICD10CM:G12.2 OMIM:205100 ALS2 amyotrophic lateral sclerosis 2 amyotrophic lateral sclerosis 2, juvenile disease_ontology DOID:0060194 amyotrophic lateral sclerosis type 2 An amyotrophic lateral sclerosis that has material basis in mutation in the alsin gene on chromosome 2. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://omim.org/entry/205100 ALS2 OMIM:205100 amyotrophic lateral sclerosis 2 OMIMl:205100 amyotrophic lateral sclerosis 2, juvenile OMIM:205100 An amyotrophic lateral sclerosis that has material basis in mutation in loci on chromosome 18. emitraka 2014-09-16T13:18:38Z OMIM:606640 amyotrophic lateral sclerosis 3 disease_ontology ALS3 DOID:0060195 amyotrophic lateral sclerosis type 3 An amyotrophic lateral sclerosis that has material basis in mutation in loci on chromosome 18. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://omim.org/entry/606640 amyotrophic lateral sclerosis 3 OMIM:606640 ALS3 OMIM:606640 An amyotrophic lateral sclerosis with juvenile onset that has material basis in mutation in the SETX gene on chromosome 9. emitraka 2014-09-16T13:49:59Z ICD10CM:G12.2 OMIM:602433 ORDO:357043 ALS 4 amyotrophic lateral sclerosis 4 amyotrophic lateral sclerosis 4, juvenile dHMN with upper motor neuron signs distal hereditary motor neuropathy with pyramidal features distal hereditary motor neuropathy with upper motor neuron signs disease_ontology DOID:0060196 amyotrophic lateral sclerosis type 4 An amyotrophic lateral sclerosis with juvenile onset that has material basis in mutation in the SETX gene on chromosome 9. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://omim.org/entry/602433 ALS 4 OMIM:602433 amyotrophic lateral sclerosis 4 OMIM:602433 amyotrophic lateral sclerosis 4, juvenile OMIM:602433 dHMN with upper motor neuron signs ORDO:357043 distal hereditary motor neuropathy with pyramidal features OMIM:602433 distal hereditary motor neuropathy with upper motor neuron signs ORDO:357043 An amyotrophic lateral sclerosis that has material basis in mutation in the SPG11 gene on chromosome 15q21. emitraka 2014-09-16T14:17:01Z OMIM:602099 ALS5 amyotrophic lateral sclerosis 5 disease_ontology DOID:0060197 amyotrophic lateral sclerosis type 5 An amyotrophic lateral sclerosis that has material basis in mutation in the SPG11 gene on chromosome 15q21. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://omim.org/entry/602099 ALS5 OMIM:602099 amyotrophic lateral sclerosis 5 OMIM:602099 An amyotrophic lateral sclerosis that has material basis in mutation in the FUS gene on chromosome 16. emitraka 2014-09-16T14:21:07Z OMIM:608030 ALS6 amyotrophic lateral sclerosis 6, with or without frontotemporal dementia autosomal recessive amyotrophic lateral sclerosis 6 disease_ontology DOID:0060198 amyotrophic lateral sclerosis type 6 An amyotrophic lateral sclerosis that has material basis in mutation in the FUS gene on chromosome 16. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://omim.org/entry/608030 ALS6 OMIM:608030 amyotrophic lateral sclerosis 6, with or without frontotemporal dementia OMIM:608030 autosomal recessive amyotrophic lateral sclerosis 6 OMIM:608030 An amyotrophic lateral sclerosis that has material basis in mutation in loci on chromosome 20. emitraka 2014-09-16T14:28:41Z OMIM:608031 ALS7 amyotrophic lateral sclerosis 7 disease_ontology DOID:0060199 amyotrophic lateral sclerosis type 7 An amyotrophic lateral sclerosis that has material basis in mutation in loci on chromosome 20. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://omim.org/entry/608031 ALS7 OMIM:608031 amyotrophic lateral sclerosis 7 OMIM:608031 An amyotrophic lateral sclerosis that has material basis in mutation in the ANG gene on chromosome 14. emitraka 2014-09-16T14:33:09Z OMIM:611895 ALS9 amyotrophic lateral sclerosis 9 disease_ontology DOID:0060200 amyotrophic lateral sclerosis type 9 An amyotrophic lateral sclerosis that has material basis in mutation in the ANG gene on chromosome 14. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://omim.org/entry/611895 ALS9 OMIM:611895 amyotrophic lateral sclerosis 9 OMIM:611895 An amyotrophic lateral sclerosis that has material basis in mutation in the TARDBP gene on chromosome 1. emitraka 2014-09-16T14:36:54Z OMIM:612069 ALS10 TARDBP-related frontotemporal lobar degeneration with TDP43 inclusions amyotrophic lateral sclerosis 10 amyotrophic lateral sclerosis 10, with or without frontotemporal dementia disease_ontology DOID:0060201 amyotrophic lateral sclerosis type 10 An amyotrophic lateral sclerosis that has material basis in mutation in the TARDBP gene on chromosome 1. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://omim.org/entry/612069 ALS10 OMIM:612069 TARDBP-related frontotemporal lobar degeneration with TDP43 inclusions OMIM:612069 amyotrophic lateral sclerosis 10 OMIM:612069 amyotrophic lateral sclerosis 10, with or without frontotemporal dementia OMIM:612069 An amyotrophic lateral sclerosis that has material basis in mutation in the FIG4 gene on chromosome 6. emitraka 2014-09-16T14:49:07Z OMIM:612577 ALS11 amyotrophic lateral sclerosis 11 disease_ontology DOID:0060202 amyotrophic lateral sclerosis type 11 An amyotrophic lateral sclerosis that has material basis in mutation in the FIG4 gene on chromosome 6. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://omim.org/entry/612577 ALS11 OMIM:612577 amyotrophic lateral sclerosis 11 OMIM:612577 An amyotrophic lateral sclerosis that has material basis in mutation in the OPTN gene on chromosome 10. emitraka 2014-09-16T14:53:12Z OMIM:613435 ALS12 amyotrophic lateral sclerosis 12 disease_ontology DOID:0060203 amyotrophic lateral sclerosis type 12 An amyotrophic lateral sclerosis that has material basis in mutation in the OPTN gene on chromosome 10. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://omim.org/entry/613435 ALS12 OMIM:613435 amyotrophic lateral sclerosis 12 OMIM:613435 An amyotrophic lateral sclerosis where a mutation that has material basis in the ATXN2 gene on chromosome 12 contributes to suscepitbility. emitraka 2014-09-16T14:56:08Z ALS13 amyotrophic lateral sclerosis 13 disease_ontology DOID:0060204 An association between 29 or more CAG repeats and the development of ALS13 exists. amyotrophic lateral sclerosis type 13 An amyotrophic lateral sclerosis where a mutation that has material basis in the ATXN2 gene on chromosome 12 contributes to suscepitbility. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://omim.org/entry/183090 ALS13 OMIM:183090 amyotrophic lateral sclerosis 13 OMIM:183090 An amyotrophic lateral sclerosis that has material basis in mutation in the VCP gene on chromosome 9. emitraka 2014-09-16T15:02:22Z OMIM:613954 ALS14 amyotrophic lateral sclerosis 14 amyotrophic lateral sclerosis, with or without frontotemporal dementia disease_ontology DOID:0060205 amyotrophic lateral sclerosis type 14 An amyotrophic lateral sclerosis that has material basis in mutation in the VCP gene on chromosome 9. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://omim.org/entry/613954 ALS14 OMIM:613954 amyotrophic lateral sclerosis 14 OMIM:613954 amyotrophic lateral sclerosis, with or without frontotemporal dementia OMIM:613954 An amyotrophic lateral sclerosis that has material basis in mutation in the UBQLN2 gene on chromosome X. emitraka 2014-09-16T15:12:48Z OMIM:300857 ALS15 amyotrophic lateral sclerosis 15 amyotrophic lateral sclerosis 15, with or without frontotemporal dementia disease_ontology DOID:0060206 Described in one family only. amyotrophic lateral sclerosis type 15 An amyotrophic lateral sclerosis that has material basis in mutation in the UBQLN2 gene on chromosome X. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://omim.org/entry/300857 ALS15 OMIM:300857 amyotrophic lateral sclerosis 15 OMIM:300857 amyotrophic lateral sclerosis 15, with or without frontotemporal dementia OMIM:300857 An amyotrophic lateral sclerosis that has material basis in mutation in the SIGMAR1 gene (SETX) on chromosome 9. emitraka 2014-09-16T15:17:01Z OMIM:614373 ALS16 amyotrophic lateral sclerosis 16 disease_ontology amyotrophic lateral sclerosis 16, juvenile DOID:0060207 amyotrophic lateral sclerosis type 16 An amyotrophic lateral sclerosis that has material basis in mutation in the SIGMAR1 gene (SETX) on chromosome 9. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://omim.org/entry/614373 ALS16 OMIM:614373 amyotrophic lateral sclerosis 16 OMIM:614373 amyotrophic lateral sclerosis 16, juvenile OMIM:614373 An amyotrophic lateral sclerosis that has material basis in mutation in the CHMP2B gene on chromosome 3. emitraka 2014-09-16T15:20:50Z OMIM:614696 ALS17 CHMP2B-related amyotrophic lateral sclerosis amyotrophic lateral sclerosis 17 disease_ontology DOID:0060208 amyotrophic lateral sclerosis type 17 An amyotrophic lateral sclerosis that has material basis in mutation in the CHMP2B gene on chromosome 3. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://omim.org/entry/614696 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=24514863 ALS17 OMIM:614696 CHMP2B-related amyotrophic lateral sclerosis OMIM:614696 amyotrophic lateral sclerosis 17 OMIM:614696 An amyotrophic lateral sclerosis that has material basis in mutation in the PFN1 gene on chromosome 17. emitraka 2014-09-16T15:24:08Z OMIM:614808 ALS18 amyotrophic lateral sclerosis 18 disease_ontology DOID:0060209 amyotrophic lateral sclerosis type 18 An amyotrophic lateral sclerosis that has material basis in mutation in the PFN1 gene on chromosome 17. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://omim.org/entry/614808 ALS18 OMIM:614808 amyotrophic lateral sclerosis 18 OMIM:614808 An amyotrophic lateral sclerosis that has material basis in mutation in the ERBB4 gene on chromosome 2. emitraka 2014-09-16T15:30:22Z OMIM:615515 ALS19 amyotrophic lateral sclerosis 19 disease_ontology DOID:0060210 amyotrophic lateral sclerosis type 19 An amyotrophic lateral sclerosis that has material basis in mutation in the ERBB4 gene on chromosome 2. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://omim.org/entry/615515 ALS19 OMIM:615515 amyotrophic lateral sclerosis 19 OMIM:615515 An amyotrophic lateral sclerosis with juvenile onset that has material basis in mutation in the HNRNPA1 gene on chromosome 12. emitraka 2014-09-16T15:34:12Z OMIM:615426 ALS20 amyotrophic lateral sclerosis 20 disease_ontology DOID:0060211 amyotrophic lateral sclerosis type 20 An amyotrophic lateral sclerosis with juvenile onset that has material basis in mutation in the HNRNPA1 gene on chromosome 12. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://omim.org/entry/615426 ALS20 OMIM:615426 amyotrophic lateral sclerosis 20 OMIM:615426 An amyotrophic lateral sclerosis that has material basis in mutation in the MATR3 gene on chromosome 5. emitraka 2014-09-16T16:06:31Z OMIM:606070 ALS21 disease_ontology DOID:0060212 amyotrophic lateral sclerosis type 21 An amyotrophic lateral sclerosis that has material basis in mutation in the MATR3 gene on chromosome 5. url:http://omim.org/entry/606070 ALS21 OMIM:606070 An amyotrophic lateral sclerosis that has material basis in mutation in the C9ORF72 gene on chromosome 9. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis. emitraka 2014-09-16T16:36:24Z OMIM:105550 ALSFTD FTDMND amyotrophic lateral sclerosis and/or frontotemporal dementia frontotemporal dementia and/or amyotrophic lateral sclerosis 1 frontotemporal dementia and/or motor neuron disease disease_ontology DOID:0060213 FTDALS1 An amyotrophic lateral sclerosis that has material basis in mutation in the C9ORF72 gene on chromosome 9. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis. url:http://omim.org/entry/105550 ALSFTD OMIM:105550 FTDMND OMIM:105550 amyotrophic lateral sclerosis and/or frontotemporal dementia OMIM:105550 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 OMIM:105550 frontotemporal dementia and/or motor neuron disease OMIM:105550 An amyotrophic lateral sclerosis that has material basis in mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis. emitraka 2014-09-16T16:44:08Z OMIM:615911 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 disease_ontology DOID:0060214 FTDALS2 An amyotrophic lateral sclerosis that has material basis in mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis. url:http://omim.org/entry/615911 url:http://www.ncbi.nlm.nih.gov/pubmed/24934289 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 OMIM:615911 A demyelinating disease characterized by the fact that the demyelinated tissues form concentric layers. emitraka 2014-09-18T15:02:17Z ICD10CM:G31.81 ICD10CM:G37.0 ICD9CM:341.1 MESH:D002549 NCI:C35257 NCI:C84670 SNOMEDCT:230380005 SNOMEDCT_US_2016_03_01:155059003 SNOMEDCT_US_2016_03_01:192932009 SNOMEDCT_US_2016_03_01:192938008 SNOMEDCT_US_2016_03_01:20415001 SNOMEDCT_US_2016_03_01:230380005 SNOMEDCT_US_2016_03_01:267702006 SNOMEDCT_US_2016_03_01:44875002 SNOMEDCT_US_2016_03_01:49692006 UMLS_CUI:C0004712 UMLS_CUI:C0007795 UMLS_CUI:C0205710 Balo's concentric sclerosis disease_ontology DOID:0060215 Similar to standard multiple sclerosis. Balo concentric sclerosis A demyelinating disease characterized by the fact that the demyelinated tissues form concentric layers. url:http://en.wikipedia.org/wiki/Balo_concentric_sclerosis An eye disease characterized by nonsyphilitic interstitial keratitis located_in cornea, has_symptom fever, has_symptom fatigue. emitraka 2014-09-22T16:29:20Z ICD10CM:H16.32 MESH:D055952 ORDO:1467 SNOMEDCT_US_2016_03_01:193785001 SNOMEDCT_US_2016_03_01:231906002 SNOMEDCT_US_2016_03_01:26018001 SNOMEDCT_US_2016_03_01:405810005 UMLS_CUI:C0271270 Cogan's syndrome diffuse interstitual keratitis disease_ontology DOID:0060216 OWL also bilateral audiovestibular deficits. Cogan syndrome An eye disease characterized by nonsyphilitic interstitial keratitis located_in cornea, has_symptom fever, has_symptom fatigue. url:http://en.wikipedia.org/wiki/Cogan_syndrome Cogan's syndrome ICD10CM:H16.32 diffuse interstitual keratitis ICD10CM:H16.32 An eye disease characterized by variable iris atrophy, pigmented and pedunculated nodules located_in iris and attachment of the iris to the cornea (peripheral anterior synechiae) and characterized_by glaucoma. emitraka 2014-09-23T12:31:25Z MedDRA:10059200 NCI:C84644 ORDO:98980 SNOMEDCT_US_2016_03_01:129624009 SNOMEDCT_US_2016_03_01:404633004 UMLS_CUI:C1168173 disease_ontology DOID:0060217 Cogan-Reese syndrome An eye disease characterized by variable iris atrophy, pigmented and pedunculated nodules located_in iris and attachment of the iris to the cornea (peripheral anterior synechiae) and characterized_by glaucoma. url:http://en.wikipedia.org/wiki/Iridocorneal_endothelial_syndrome url:http://rarediseases.info.nih.gov/gard/6125/cogan-reese-syndrome/resources/1 A syndrome characterized by calcinosis, Raynaud's phenomeno, esophageal dysmotility, sclerodactyly and telangiectasia. emitraka 2014-09-24T16:30:36Z ICD10CM:M34.1 MESH:D017675 NCI:C70646 SNOMEDCT_US_2016_03_01:156453002 SNOMEDCT_US_2016_03_01:201442004 SNOMEDCT_US_2016_03_01:31848007 SNOMEDCT_US_2016_03_01:62382002 UMLS_CUI:C0206138 UMLS_CUI:C1527226 disease_ontology DOID:0060218 CREST syndrome A syndrome characterized by calcinosis, Raynaud's phenomeno, esophageal dysmotility, sclerodactyly and telangiectasia. url:http://en.wikipedia.org/wiki/CREST_syndrome A lymph node cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures of the lymph nodes. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes. emitraka 2014-11-05T09:11:16Z lymph node adenoid cystic cancer disease_ontology DOID:0060219 lymph node adenoid cystic carcinoma A lymph node cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures of the lymph nodes. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes. url:http://www.cigna.com/healthwellness/hw/medical-topics/adenoid-cystic-carcinoma-nord1109 url:http://www.oralcancerfoundation.org/facts/rare/ac/ An urticaria induced by external physical influences. emitraka 2014-11-21T15:51:38Z disease_ontology DOID:0060220 WD correction. physical urticaria An urticaria induced by external physical influences. ISBN:1416029990 url:http://en.wikipedia.org/wiki/Physical_urticaria url:http://www.dermnetnz.org/reactions/urticaria.html A syndrome characterized by the presence of multiple enchondromas (benign growths of cartilage) associated with multiple hemangiomas. emitraka 2014-11-26T11:16:24Z ICD10CM:Q78.4 OMIM:614569 ORDO:163634 disease_ontology DOID:0060221 WD former synonym. Maffucci syndrome A syndrome characterized by the presence of multiple enchondromas (benign growths of cartilage) associated with multiple hemangiomas. url:http://en.wikipedia.org/wiki/Maffucci_syndrome url:http://ghr.nlm.nih.gov/condition/maffucci-syndrome A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan. emitraka 2014-11-26T11:32:20Z ICD10CM:E76.0 OMIM:607016 ORDO:93474 mucopolysaccharidosis type 1S mucopolysaccharidosis type IS mucopolysaccharidosis type V disease_ontology DOID:0060222 WD former synonym. Scheie syndrome A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan. url:http://en.wikipedia.org/wiki/Scheie_syndrome An acquired writing disorder causing a loss in the ability to communicate through writing, either due to some motor dysfunction or the inability to spell. emitraka 2014-11-26T11:44:01Z ICD10CM:R48.8 disease_ontology DOID:0060223 agraphia An acquired writing disorder causing a loss in the ability to communicate through writing, either due to some motor dysfunction or the inability to spell. url:http://en.wikipedia.org/wiki/Agraphia url:http://www.ncbi.nlm.nih.gov/pubmed/21507544 A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain. emitraka 2015-01-16T14:55:21Z HP:0005110 ICD10CM:I48 ICD9CM:427.31 MESH:D001281 NCI:C50466 SNOMEDCT_US_2016_03_01:155364009 SNOMEDCT_US_2016_03_01:266306001 SNOMEDCT_US_2016_03_01:49436004 UMLS_CUI:C0004238 A-fib disease_ontology DOID:0060224 atrial fibrillation A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain. url:http://en.wikipedia.org/wiki/Atrial_fibrillation url:http://www.mayoclinic.org/diseases-conditions/atrial-fibrillation/basics/definition/con-20027014 url:http://www.nhlbi.nih.gov/health/health-topics/topics/af A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes. emitraka 2015-01-16T15:08:40Z ICD10CM:Q87.8 OMIM:248340 OMIM:265050 OMIM:PS257920 ORDO:293843 craniofacial-ulnar-renal syndrome oculopalatoskeletal syndrome disease_ontology DOID:0060225 Xref MGI. 3MC syndrome A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes. url:http://www.ncbi.nlm.nih.gov/pubmed/16096999 A dysostosis characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia and anomalies of foot structure. emitraka 2015-01-16T15:39:56Z MESH:C538186 OMIM:201180 OMIM:239710 ORDO:1784 UMLS_CUI:C1860118 AFFN dysostosis Richieri-Costa-Colletto syndrome disease_ontology DOID:0060226 Xref MGI. acrofrontofacionasal dysostosis A dysostosis characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia and anomalies of foot structure. url:http://en.wikipedia.org/wiki/Acrofrontofacionasal_dysostosis url:http://www.ncbi.nlm.nih.gov/pubmed/2986457 A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs. emitraka 2015-01-16T15:48:40Z MESH:C538225 OMIM:100300 OMIM:614219 OMIM:614814 OMIM:615297 OMIM:616028 SNOMEDCT_US_2016_03_01:34748004 UMLS_CUI:C0265268 Adams Oliver syndrome disease_ontology DOID:0060227 Xref MGI. Adams-Oliver syndrome A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs. url:http://en.wikipedia.org/wiki/Adams%E2%80%93Oliver_syndrome url:http://ghr.nlm.nih.gov/condition/adams-oliver-syndrome url:http://www.ncbi.nlm.nih.gov/pubmed/?term=18000904 url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/584/viewAbstract An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm. emitraka 2015-01-16T16:24:39Z HP:0007029 ICD10CM:I60.7 OMIM:105800 OMIM:300870 OMIM:608542 OMIM:609122 OMIM:610213 OMIM:611892 OMIM:612161 OMIM:612162 OMIM:612586 OMIM:612587 OMIM:614252 ORDO:231160 familial aneurysmal subarachnoid hemorrhage familial berry aneurysm familial intracranial saccular aneurysm saccular cerebral aneurysm disease_ontology DOID:0060228 Xref MGI. intracranial berry aneurysm An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm. url:http://en.wikipedia.org/wiki/Intracranial_aneurysm#Saccular_aneurysms url:http://radiopaedia.org/articles/saccular-cerebral-aneurysm url:http://www.hopkinsmedicine.org/healthlibrary/conditions/cardiovascular_diseases/cerebral_aneurysm_85,P08772/ A syndrome characterized by distinctive facial features including hypertelorism, large eyelid openings, ptosis, high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and the upper lip, full cheeks and a pointed chin; structural abnormalities of the brain might also be present. emitraka 2015-01-16T16:52:25Z ICD10CM:Q87.0 OMIM:243310 OMIM:614583 disease_ontology DOID:0060229 Xref MGI. Baraitser-Winter syndrome A syndrome characterized by distinctive facial features including hypertelorism, large eyelid openings, ptosis, high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and the upper lip, full cheeks and a pointed chin; structural abnormalities of the brain might also be present. url:http://ghr.nlm.nih.gov/condition/baraitser-winter-syndrome A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills. emitraka 2015-01-22T13:09:08Z HP:0002135 MESH:C536275 OMIM:114100 OMIM:213600 OMIM:606656 OMIM:615007 OMIM:615483 SNOMEDCT_US_2016_03_01:110997000 UMLS_CUI:C0393590 Fahr disease disease_ontology DOID:0060230 NT MGI. basal ganglia calcification A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills. url:http://en.wikipedia.org/wiki/Fahr%27s_syndrome url:http://ghr.nlm.nih.gov/condition/familial-idiopathic-basal-ganglia-calcification url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/597/viewAbstract A syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta. emitraka 2015-01-23T15:12:40Z ICD10CM:M21.8 OMIM:259450 OMIM:609220 ORDO:2771 osteogenesis imperfecta with congenital joint contractures disease_ontology DOID:0060231 NT MGI. Bruck syndrome A syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta. url:http://en.wikipedia.org/wiki/Bruck_syndrome url:http://www.ncbi.nlm.nih.gov/pubmed/9129737 A syndrome characterized by malformations of the outer, middle and inner ear and branchial and renal malformations. Mutations of the EYA1, SIX1 and SIX5 genes are associated with the syndrome. emitraka 2015-01-23T15:24:02Z ICD10CM:Q87.0 OMIM:120502 OMIM:602588 OMIM:608389 ORDO:52429 BO syndrome BOR branchiootic dysplasia disease_ontology DOID:0060232 NT MGI. branchiootic syndrome A syndrome characterized by malformations of the outer, middle and inner ear and branchial and renal malformations. Mutations of the EYA1, SIX1 and SIX5 genes are associated with the syndrome. url:http://www.ncbi.nlm.nih.gov/pubmed/22901925 url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/881/viewAbstract A syndrome characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities; it is that has material basis in mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes. emitraka 2015-01-23T15:37:07Z ICD10CM:Q87.8 OMIM:115150 OMIM:615278 OMIM:615279 OMIM:615280 ORDO:1340 CFC syndrome cardio-facial-cutaneous syndrome disease_ontology DOID:0060233 NT MGI. cardiofaciocutaneous syndrome A syndrome characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities; it is that has material basis in mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes. url:http://en.wikipedia.org/wiki/Cardiofaciocutaneous_syndrome url:http://ghr.nlm.nih.gov/condition/cardiofaciocutaneous-syndrome url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/877/viewAbstract An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly. emitraka 2015-01-23T16:06:03Z MESH:C563187 NCI:C98873 OMIM:201000 OMIM:614976 ORDO:65759 SNOMEDCT_US_2016_03_01:205813009 SNOMEDCT_US_2016_03_01:403767009 SNOMEDCT_US_2016_03_01:74263009 SNOMEDCT_US_2016_03_01:83728000 UMLS_CUI:C1275078 acrocephalopolysyndactyly type II disease_ontology DOID:0060234 NT MGI. Carpenter syndrome An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly. url:http://en.wikipedia.org/wiki/Carpenter_syndrome url:http://ghr.nlm.nih.gov/condition/carpenter-syndrome url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/612/viewAbstract A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria. emitraka 2015-01-23T16:35:22Z MESH:C535589 NCI:C114766 OMIM:255110 OMIM:600649 OMIM:608836 ORDO:157 SNOMEDCT_US_2016_03_01:238002005 UMLS_CUI:C0342790 CPT-II infantile carnitine palmitoyltransferase II deficiency late-onset carnitine palmitoyltransferase II deficiency lethal neonatal carnitine palmitoyltransferase II deficiency disease_ontology DOID:0060235 NT MGI. carnitine palmitoyltransferase II deficiency A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria. url:http://en.wikipedia.org/wiki/Carnitine_palmitoyltransferase_II_deficiency url:http://ghr.nlm.nih.gov/condition/carnitine-palmitoyltransferase-ii-deficiency A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones. emitraka 2015-01-27T14:10:42Z HP:0010934 MESH:C562584 MESH:C566358 OMIM:278300 OMIM:603592 ORDO:3467 SNOMEDCT_US_2016_03_01:124147007 SNOMEDCT_US_2016_03_01:72682008 UMLS_CUI:C0268118 UMLS_CUI:C1863688 xanthine dehydrogenase deficiency xanthine oxidase deficiency disease_ontology DOID:0060236 NT MGI. xanthinuria A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones. url:http://en.wikipedia.org/wiki/Xanthinuria url:http://www.ncbi.nlm.nih.gov/pubmed/4369449 An autosomal recessive disease characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis or hypoplasia of the corpus callosum and hypogenitalism. emitraka 2015-01-27T14:32:30Z MESH:C536681 OMIM:PS600118 ORDO:2510 UMLS_CUI:C1838625 WARBM Warburg-Sjo-Fledelius syndrome micro syndrome disease_ontology DOID:0060237 NT MGI. Warburg micro syndrome An autosomal recessive disease characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis or hypoplasia of the corpus callosum and hypogenitalism. url:http://en.wikipedia.org/wiki/Micro_syndrome url:http://www.ncbi.nlm.nih.gov/pubmed/22768674 A syndrome characterized by facial abnormalities such as telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears, malformed extremities such as camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity and mental retardation. emitraka 2015-01-27T15:42:05Z MESH:C536530 OMIM:601390 OMIM:615546 ORDO:314679 UMLS_CUI:C1832390 cerebro-facio-articular syndrome disease_ontology DOID:0060238 NT MGI. Van Maldergem syndrome A syndrome characterized by facial abnormalities such as telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears, malformed extremities such as camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity and mental retardation. url:http://www.ncbi.nlm.nih.gov/pubmed/1633641 A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone. emitraka 2015-01-27T15:51:56Z ICD10CM:Q38.0 MESH:C536528 MESH:C563529 NCI:C74986 OMIM:119300 OMIM:606713 ORDO:888 SNOMEDCT_US_2016_03_01:79261008 UMLS_CUI:C0175697 UMLS_CUI:C1834339 disease_ontology lip-pit syndrome DOID:0060239 NT MGI. Van der Woude syndrome A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone. url:http://en.wikipedia.org/wiki/Van_der_Woude_syndrome url:http://ghr.nlm.nih.gov/condition/van-der-woude-syndrome An autosomal recessive disease characterized by photosensitivity and liver spots (solar lentigines). emitraka 2015-01-27T16:00:50Z MESH:563466 OMIM:600630 OMIM:614621 OMIM:614640 ORDO:178338 disease_ontology DOID:0060240 NT MGI. UV-sensitive syndrome An autosomal recessive disease characterized by photosensitivity and liver spots (solar lentigines). url:http://en.wikipedia.org/wiki/UV-sensitive_syndrome url:http://ghr.nlm.nih.gov/condition/uv-sensitive-syndrome An autosomal recessive disease characterized by dwarfism, facial dysmorphia and skeletal abnormalities. emitraka 2015-01-27T16:10:58Z MESH:C535314 MESH:C535725 OMIM:273750 OMIM:612921 OMIM:614205 ORDO:2616 SNOMEDCT_US_2016_03_01:702342007 UMLS_CUI:C1848862 UMLS_CUI:C1851996 Le Merrer syndrome Miller-McKusick-Malvaux syndrome Yakut short stature syndrome dolichospondylic dysplasia gloomy face syndrome three M syndrome disease_ontology DOID:0060241 NT MGI. 3-M syndrome An autosomal recessive disease characterized by dwarfism, facial dysmorphia and skeletal abnormalities. url:http://en.wikipedia.org/wiki/3-M_syndrome url:http://ghr.nlm.nih.gov/condition/3-m-syndrome A syndactyly characterized by an increased number of digits; often a result of a mutation in the HOX D13 gene. emitraka 2015-01-27T16:57:56Z MESH:C538153 NCI:C75003 OMIM:186000 OMIM:608180 OMIM:610234 ORDO:295195 UMLS_CUI:C2699746 syndactyly type 2 disease_ontology DOID:0060242 NT MGI. synpolydactyly A syndactyly characterized by an increased number of digits; often a result of a mutation in the HOX D13 gene. url:http://en.wikipedia.org/wiki/Synpolydactyly url:http://www.ncbi.nlm.nih.gov/pubmed/18177473 url:http://www.ncbi.nlm.nih.gov/pubmed/8817328 An articulation disorder characterized by involuntary sound repetition and disruption or blocking of speech. emitraka 2015-01-28T16:04:54Z ICD10CM:F80.81 MESH:D013342 NCI:C35043 OMIM:184450 OMIM:609261 OMIM:614655 OMIM:614668 SNOMEDCT_US_2016_03_01:154935003 SNOMEDCT_US_2016_03_01:191987007 SNOMEDCT_US_2016_03_01:192632007 SNOMEDCT_US_2016_03_01:229631007 SNOMEDCT_US_2016_03_01:231512003 SNOMEDCT_US_2016_03_01:231513008 SNOMEDCT_US_2016_03_01:29916003 SNOMEDCT_US_2016_03_01:39423001 SNOMEDCT_US_2016_03_01:416163003 UMLS_CUI:C0038131 UMLS_CUI:C0038506 UMLS_CUI:C0454542 UMLS_CUI:C0751527 UMLS_CUI:C0751528 UMLS_CUI:C0751529 UMLS_CUI:C3489627 familial persistent stuttering stammering disease_ontology DOID:0060243 NT MGI. stuttering An articulation disorder characterized by involuntary sound repetition and disruption or blocking of speech. url:http://en.wikipedia.org/wiki/Stuttering url:http://www.asha.org/public/speech/disorders/stuttering.htm url:http://www.merriam-webster.com/dictionary/stutter A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors. emitraka 2015-01-28T16:29:51Z OMIM:606711 OMIM:606712 OMIM:607134 OMIM:612514 OMIM:615432 disease_ontology DOID:0060244 NT MGI. specific language impairment A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors. url:http://en.wikipedia.org/wiki/Specific_language_impairment url:http://www.ncbi.nlm.nih.gov/pubmed/19646677 A hereditary spastic paraplegia associated with dementia. emitraka 2015-01-28T16:42:37Z ICD10CM:G11.4 OMIM:248900 ORDO:101001 SPG21 autosomal recessive spastic paraplegia 21 autosomal recessive spastic paraplegia type 21 hereditary spastic paraplegia 21 disease_ontology DOID:0060245 NT MGI. Mast syndrome A hereditary spastic paraplegia associated with dementia. url:http://ghr.nlm.nih.gov/gene/SPG21 url:http://www.ncbi.nlm.nih.gov/pubmed/6024251 A hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range. emitraka 2015-01-28T16:49:53Z ICD10CM:G11.4 MESH:C536029 OMIM:303350 ORDO:2466 UMLS_CUI:C0795953 CRASH syndrome Gareis-Mason syndrome L1 syndrome SPG1 X-linked complicated hereditary spastic paraplegia type 1 X-linked corpus callosum agenesis X-linked spastic paraplegia 1 hereditary spastic paraplegia 1 disease_ontology DOID:0060246 NT MGI. MASA syndrome A hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range. url:http://en.wikipedia.org/wiki/MASA_syndrome url:http://ghr.nlm.nih.gov/condition/l1-syndrome url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1097/viewAbstract An osteochondrodysplasia characterized by short limbs and a short trunk with a barrel-shaped chest and has material basis in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q. emitraka 2015-01-29T15:06:25Z MESH:C564589 OMIM:607326 OMIM:615222 ORDO:178355 UMLS_CUI:C1846431 disease_ontology DOID:0060247 NT MGI. Smith-McCort dysplasia An osteochondrodysplasia characterized by short limbs and a short trunk with a barrel-shaped chest and has material basis in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q. url:http://www.ncbi.nlm.nih.gov/pubmed/1216821 An X-linked disease characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities. emitraka 2015-01-29T15:15:46Z MESH:C537340 NCI:C118787 OMIM:300209 OMIM:312870 ORDO:373 SNOMEDCT_US_2016_03_01:439143004 UMLS_CUI:C0796154 DGSX Golabi-Rosen syndrome Golabi-Rosen syndrome SGB syndrome Sara Angers syndrome Simpson dysmorphia syndrome X-linked dysplasia gigantism syndrome bulldog syndrome disease_ontology DOID:0060248 NT MGI. Simpson-Golabi-Behmel syndrome An X-linked disease characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities. url:http://en.wikipedia.org/wiki/Simpson%E2%80%93Golabi%E2%80%93Behmel_syndrome url:http://ghr.nlm.nih.gov/condition/simpson-golabi-behmel-syndrome url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/982/viewAbstract A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine. emitraka 2015-01-29T15:44:16Z HP:0002650 ICD10CM:M41 ICD10CM:M41.9 MESH:D012600 NCI:C78603 SNOMEDCT:20944008 SNOMEDCT:298382003 SNOMEDCT_US_2016_03_01:298382003 SNOMEDCT_US_2016_03_01:36773001 UMLS_CUI:C0036439 disease_ontology DOID:0060249 NT MGI add. scoliosis A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine. url:http://en.wikipedia.org/wiki/Scoliosis url:http://ghr.nlm.nih.gov/glossary=scoliosis url:http://www.mayoclinic.org/diseases-conditions/scoliosis/basics/definition/con-20030140 A scoliosis with no known cause. emitraka 2015-01-29T15:52:18Z OMIM:181800 OMIM:607354 OMIM:608765 OMIM:612238 OMIM:612239 disease_ontology DOID:0060250 NT MGI. idiopathic scoliosis A scoliosis with no known cause. url:http://en.wikipedia.org/wiki/Scoliosis A hyperostosis characterized by excessive bone formation most prominent in the skull, mandible, clavicle, ribs and diaphyses of long bones; bone formation occurs throughout life. emitraka 2015-01-29T16:02:45Z MESH:C537525 ORDO:3152 SNOMEDCT_US_2016_03_01:17568006 UMLS_CUI:C0265301 disease_ontology DOID:0060251 sclerosteosis A hyperostosis characterized by excessive bone formation most prominent in the skull, mandible, clavicle, ribs and diaphyses of long bones; bone formation occurs throughout life. url:http://en.wikipedia.org/wiki/Sclerostin#Clinical_significance url:http://www.ncbi.nlm.nih.gov/pubmed/11836356 A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea. emitraka 2015-01-29T16:16:57Z HP:0000647 MESH:C565209 OMIM:181700 ORDO:91490 UMLS_CUI:C1853235 isolated congenital sclerocornea disease_ontology DOID:0060252 sclerocornea A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea. url:http://en.wikipedia.org/wiki/Sclerocornea url:http://www.ncbi.nlm.nih.gov/pubmed/3994576 A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm. emitraka 2015-01-29T16:35:26Z OMIM:181430 OMIM:300695 disease_ontology DOID:0060253 NT MGI. scapuloperoneal myopathy A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm. url:http://www.ncbi.nlm.nih.gov/pubmed/28179901 A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities. emitraka 2015-01-29T16:42:52Z ICD10CM:Q87.1 MESH:C562492 NCI:C85048 ORDO:97360 SNOMEDCT_US_2016_03_01:76520005 UMLS_CUI:C0265205 Robinow dwarfism acral dysostosis with facial and genital abnormalities fetal face syndrome disease_ontology DOID:0060254 NT MGI. Robinow syndrome A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities. url:http://en.wikipedia.org/wiki/Robinow_syndrome url:http://ghr.nlm.nih.gov/condition/robinow-syndrome url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/696/viewAbstract A muscle tissue disease characterized by muscles unusually sensitive to movement or pressure; the proximal muscles are most affected, especially the thighs. emitraka 2015-01-29T16:51:43Z OMIM:600332 OMIM:606072 ORDO:97238 UMLS_CUI:C1853698 disease_ontology DOID:0060255 NT MGI. rippling muscle disease 2 A muscle tissue disease characterized by muscles unusually sensitive to movement or pressure; the proximal muscles are most affected, especially the thighs. url:http://ghr.nlm.nih.gov/condition/rippling-muscle-disease A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases. emitraka 2015-01-30T11:04:57Z MESH:C562924 OMIM:179850 OMIM:615327 OMIM:615674 OMIM:615696 ORDO:79145 SNOMEDCT_US_2016_03_01:239133004 UMLS_CUI:C0406811 UMLS_CUI:C3714534 dark dot disease reticular pigment anomaly of flexures disease_ontology DOID:0060256 NT MGI. Dowling-Degos disease A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases. url:http://en.wikipedia.org/wiki/Reticular_pigmented_anomaly_of_the_flexures url:http://ghr.nlm.nih.gov/condition/dowling-degos-disease A pigmentation disease characterized by progressively pigmented and depigmented macules, often mixed in a reticulate pattern, concentrated on the dorsal extremities. emitraka 2015-01-30T16:08:47Z MESH:C535729 NCI:C118435 OMIM:127400 ORDO:41 SNOMEDCT_US_2016_03_01:239085000 UMLS_CUI:C0406775 reticulate acropigmentation of Dohi disease_ontology DOID:0060257 NT MGI. dyschromatosis symmetrica hereditaria A pigmentation disease characterized by progressively pigmented and depigmented macules, often mixed in a reticulate pattern, concentrated on the dorsal extremities. url:http://en.wikipedia.org/wiki/Dyschromatosis_symmetrica_hereditaria url:http://www.alibris.com/Andrews-Diseases-of-the-Skin-Clinical-Dermatology-Expert-Consult-Online-and-Print-William-D-James-Col/book/28312193?qsort=c&matches=15 url:http://www.ncbi.nlm.nih.gov/pubmed/22974014 A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present. emitraka 2015-01-30T16:19:57Z MESH:C562924 OMIM:615537 ORDO:178307 SNOMEDCT_US_2016_03_01:239133004 UMLS_CUI:C0406811 RAPK disease_ontology DOID:0060258 NT MGI. reticulate acropigmentation of Kitamura A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present. url:http://www.ncbi.nlm.nih.gov/pubmed/22808308 A physical disorder characterized by pancreatic fibrosis, renal dysplasia and hepatic dysgenesis; it is usual fatal soon after birth. emitraka 2015-01-30T16:33:37Z OMIM:208540 OMIM:615415 ORDO:294415 Ivemark's syndrome disease_ontology DOID:0060259 renal-hepatic-pancreatic dysplasia A physical disorder characterized by pancreatic fibrosis, renal dysplasia and hepatic dysgenesis; it is usual fatal soon after birth. url:http://en.wikipedia.org/wiki/Renal-hepatic-pancreatic_dysplasia url:http://www.ncbi.nlm.nih.gov/pubmed/17605805 An eye disease characterized by the drooping or falling of the upper or lower eyelid. emitraka 2015-01-30T16:46:53Z HP:0000508 ICD10CM:H02.4 ICD10CM:H02.40 ICD10CM:H02.409 ICD9CM:374.3 ICD9CM:374.30 MESH:D001763 NCI:C27298 SNOMEDCT_US_2016_03_01:11934000 SNOMEDCT_US_2016_03_01:155179008 SNOMEDCT_US_2016_03_01:193942002 SNOMEDCT_US_2016_03_01:193943007 SNOMEDCT_US_2016_03_01:193945000 SNOMEDCT_US_2016_03_01:204197004 UMLS_CUI:C0005745 blepharoptosis drooping eyelid disease_ontology DOID:0060260 NT MGI add. ptosis An eye disease characterized by the drooping or falling of the upper or lower eyelid. url:http://en.wikipedia.org/wiki/Ptosis_%28eyelid%29 A ptosis characterized by eyelid drop present at birth. emitraka 2015-01-30T16:53:38Z HP:0007970 ICD10CM:Q10.0 ICD9CM:743.61 NCI:C27049 OMIM:178300 OMIM:300245 SNOMEDCT_US_2016_03_01:156901004 SNOMEDCT_US_2016_03_01:204197004 SNOMEDCT_US_2016_03_01:268163008 SNOMEDCT_US_2016_03_01:60938005 SNOMEDCT_US_2016_03_01:61989004 UMLS_CUI:C0266573 disease_ontology DOID:0060261 NT MGI. congenital ptosis A ptosis characterized by eyelid drop present at birth. url:http://en.wikipedia.org/wiki/Ptosis_%28eyelid%29 url:http://eyewiki.aao.org/Ptosis,_Congenital A gastrointestinal system disease that is located_in the gallbladder. emitraka 2015-02-02T15:48:08Z DOID:0000000 ICD10CM:K82.9 ICD9CM:575.9 MESH:D005705 NCI:C34631 OMIM:609918 OMIM:609919 OMIM:611465 SNOMEDCT_US_2016_03_01:155807008 SNOMEDCT_US_2016_03_01:155826000 SNOMEDCT_US_2016_03_01:155829007 SNOMEDCT_US_2016_03_01:266535008 SNOMEDCT_US_2016_03_01:266542008 SNOMEDCT_US_2016_03_01:266543003 SNOMEDCT_US_2016_03_01:39621005 UMLS_CUI:C0016977 disease_ontology DOID:0060262 Xref MGI. gallbladder disease A gastrointestinal system disease that is located_in the gallbladder. url:http://en.wikipedia.org/wiki/Gallbladder_disease url:http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C34631&ns=NCI_Thesaurus&key=n1027527578&b=1&n=null emitraka 2015-02-04T14:12:00Z HP:0002132 ICD10CM:Q04.6 MESH:D065708 OMIM:175780 OMIM:614483 ORDO:2940 SNOMEDCT_US_2016_03_01:204071008 SNOMEDCT_US_2016_03_01:38353004 SNOMEDCT_US_2016_03_01:698837003 UMLS_CUI:C0302892 UMLS_CUI:C1867983 UMLS_CUI:C3698507 disease_ontology DOID:0060263 NT MGI. porencephaly emitraka 2015-02-04T14:23:25Z MESH:C580383 SNOMEDCT_US_2016_03_01:45163000 UMLS_CUI:C0266468 PCH disease_ontology DOID:0060264 NT MGI add. pontocerebellar hypoplasia emitraka 2015-02-04T14:28:28Z OMIM:607596 ORDO:2254 disease_ontology DOID:0060265 NT MGI. pontocerebellar hypoplasia type 1A emitraka 2015-02-04T14:28:28Z OMIM:614678 ORDO:2254 disease_ontology DOID:0060266 NT MGI. pontocerebellar hypoplasia type 1B emitraka 2015-02-04T14:28:28Z MESH:C564738 OMIM:277470 ORDO:2524 UMLS_CUI:C1848526 disease_ontology DOID:0060267 NT MGI. pontocerebellar hypoplasia type 2A emitraka 2015-02-04T14:28:28Z MESH:C567325 OMIM:612389 ORDO:2524 UMLS_CUI:C2676466 disease_ontology DOID:0060268 NT MGI. pontocerebellar hypoplasia type 2B emitraka 2015-02-04T14:28:28Z MESH:C567324 OMIM:612390 ORDO:2524 UMLS_CUI:C2676465 disease_ontology DOID:0060269 NT MGI. pontocerebellar hypoplasia type 2C emitraka 2015-02-04T14:28:28Z ICD10CM:Q04.3 OMIM:613811 ORDO:2524 disease_ontology DOID:0060270 NT MGI. pontocerebellar hypoplasia type 2D emitraka 2015-02-04T14:28:28Z OMIM:615851 disease_ontology DOID:0060271 NT MGI. pontocerebellar hypoplasia type 2E emitraka 2015-02-04T14:28:28Z MESH:C548072 OMIM:608027 ORDO:97249 UMLS_CUI:C1842687 disease_ontology DOID:0060272 NT MGI. pontocerebellar hypoplasia type 3 emitraka 2015-02-04T14:28:28Z MESH:C536716 OMIM:225753 ORDO:166063 UMLS_CUI:C1856974 disease_ontology DOID:0060273 NT MGI. pontocerebellar hypoplasia type 4 emitraka 2015-02-04T14:28:28Z MESH:C537745 OMIM:610204 ORDO:166068 UMLS_CUI:C1857762 disease_ontology DOID:0060274 NT MGI. pontocerebellar hypoplasia type 5 emitraka 2015-02-04T14:28:28Z MESH:C548074 OMIM:611523 ORDO:166073 UMLS_CUI:C1969084 disease_ontology DOID:0060275 NT MGI. pontocerebellar hypoplasia type 6 emitraka 2015-02-04T14:28:28Z ICD10CM:Q04.3 OMIM:614969 ORDO:284339 disease_ontology DOID:0060276 NT MGI. pontocerebellar hypoplasia type 7 emitraka 2015-02-04T14:28:28Z ICD10CM:Q04.3 OMIM:614961 ORDO:324569 disease_ontology DOID:0060277 NT MGI. pontocerebellar hypoplasia type 8 emitraka 2015-02-04T14:28:28Z ICD10CM:Q04.3 OMIM:615809 ORDO:369920 disease_ontology DOID:0060278 NT MGI. pontocerebellar hypoplasia type 9 emitraka 2015-02-04T14:28:28Z OMIM:615803 ORDO:411493 disease_ontology DOID:0060279 NT MGI. pontocerebellar hypoplasia type 10 An adrenal cortex disease characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules. emitraka 2015-02-04T16:01:02Z MESH:C566469 MESH:C566472 OMIM:610475 OMIM:610489 OMIM:614190 OMIM:615830 ORDO:189439 UMLS_CUI:C1864846 UMLS_CUI:C1864851 disease_ontology DOID:0060280 NT MGI. primary pigmented nodular adrenocortical disease An adrenal cortex disease characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules. url:http://www.ncbi.nlm.nih.gov/pubmed/2212318 An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights. emitraka 2015-02-04T16:15:55Z ICD10CM:G40.8 OMIM:132100 OMIM:609572 OMIM:609573 ORDO:166409 photogenic epilepsy photoparoxysmal response disease_ontology DOID:0060281 NT MGI. photosensitive epilepsy An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights. url:http://en.wikipedia.org/wiki/Photosensitive_epilepsy emitraka 2015-02-04T16:21:06Z MESH:D054514 OMIM:221900 OMIM:611308 ORDO:91495 SNOMEDCT_US_2016_03_01:314270008 SNOMEDCT_US_2016_03_01:44647001 SNOMEDCT_US_2016_03_01:69927002 UMLS_CUI:C0266568 disease_ontology DOID:0060282 NT MGI. persistent hyperplastic primary vitreous emitraka 2015-02-04T16:28:52Z ICD10CM:Q80.8 OMIM:270300 OMIM:613088 ORDO:263543 disease_ontology DOID:0060283 NT MGI. peeling skin syndrome emitraka 2015-02-04T16:30:50Z HP:0004818 ICD10CM:D59.1 ICD10CM:D59.5 ICD10CM:D59.6 MESH:D006457 NCI:C61233 OMIM:300818 OMIM:615399 ORDO:447 SNOMEDCT_US_2016_03_01:127057004 SNOMEDCT_US_2016_03_01:1468004 SNOMEDCT_US_2016_03_01:154805009 SNOMEDCT_US_2016_03_01:191223003 SNOMEDCT_US_2016_03_01:191224009 SNOMEDCT_US_2016_03_01:191226006 SNOMEDCT_US_2016_03_01:1963002 SNOMEDCT_US_2016_03_01:234377003 SNOMEDCT_US_2016_03_01:267559009 UMLS_CUI:C0019050 UMLS_CUI:C0024790 UMLS_CUI:C0086774 disease_ontology DOID:0060284 NT MGI. paroxysmal nocturnal hemoglobinuria emitraka 2015-02-04T16:36:15Z HP:0002697 MESH:C566826 OMIM:168500 OMIM:609566 OMIM:609597 ORDO:60015 UMLS_CUI:C1868598 Caitlin marks enlarged parietal foramina hereditary cranium bifidum disease_ontology DOID:0060285 NT MGI. parietal foramina emitraka 2015-02-04T16:56:52Z OMIM:300816 OMIM:609060 OMIM:610498 OMIM:610505 OMIM:610678 OMIM:611719 OMIM:613559 OMIM:614096 OMIM:614582 OMIM:614702 OMIM:614922 OMIM:614924 OMIM:614932 OMIM:614946 OMIM:614947 OMIM:615395 OMIM:615440 OMIM:615578 OMIM:615595 OMIM:615917 OMIM:615918 OMIM:616045 OMIM:616198 OMIM:616239 disease_ontology DOID:0060286 NT MGI. combined oxidative phosphorylation deficiency emitraka 2015-02-04T17:04:28Z HP:0007720 ICD10CM:Q13.4 OMIM:121400 OMIM:217300 ORDO:53691 flat cornea disease_ontology DOID:0060287 NT MGI. cornea plana emitraka 2015-02-05T09:58:47Z MESH:C537746 MESH:C567664 OMIM:164745 OMIM:258315 ORDO:2733 UMLS_CUI:C1850318 UMLS_CUI:C2750355 disease_ontology DOID:0060288 NT MGI. omodysplasia A syndrome that is characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. emitraka 2015-02-05T10:03:42Z MESH:C536232 OMIM:249620 OMIM:300895 ORDO:2728 SNOMEDCT_US_2016_03_01:412787009 UMLS_CUI:C0796094 Ohdo blepharophimosis syndrome disease_ontology DOID:0060289 NT MGI. Ohdo syndrome A syndrome that is characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2489&Disease_Disease_Search_diseaseGroup=Ohdo-syndrome&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Blepharophimosis-intellectual-disability-syndrome--Ohdo-type--Ohdo-syndrome-&title=Blepharophimosis-intellectual-disability-syndrome--Ohdo-type--Ohdo-syndrome-&search=Disease_Search_Simple emitraka 2015-02-05T10:07:12Z MESH:C536717 OMIM:603736 ORDO:3047 SNOMEDCT_US_2016_03_01:699298009 UMLS_CUI:C1863557 Ohdo syndrome, SBBYS Variant Say-Barber-Biesecker-Young-Simpson syndrome disease_ontology SBBYSS DOID:0060290 NT MGI. blepharophimosis-intellectual disability syndrome, SBBYS type A syndrome characterized by craniofacial, neurologic, limb and ocular abnormalities. emitraka 2015-02-05T10:12:23Z MESH:C563160 OMIM:164200 OMIM:257850 ORDO:2710 SNOMEDCT_US_2016_03_01:31291009 SNOMEDCT_US_2016_03_01:38215007 UMLS_CUI:C0812437 ODD syndrome disease_ontology DOID:0060291 NT MGI. oculodentodigital dysplasia A syndrome characterized by craniofacial, neurologic, limb and ocular abnormalities. url:http://ghr.nlm.nih.gov/condition/oculodentodigital-dysplasia url:http://www.ncbi.nlm.nih.gov/pubmed/?term=12021949 url:https://en.wikipedia.org/wiki/Oculodentodigital_dysplasia emitraka 2015-02-05T16:35:34Z ICD10CM:Q77.3 MESH:C002806 OMIM:302950 OMIM:302960 ORDO:35173 chondrodystrophia calcificans congenita disease_ontology DOID:0060292 NT MGI. X-linked chondrodysplasia punctata emitraka 2015-02-05T16:49:46Z ICD10CM:Q77.3 OMIM:118650 OMIM:118651 OMIM:602497 ORDO:79344 disease_ontology DOID:0060293 NT MGI. autosomal dominant chondrodysplasia punctata An autosomal dominant disease characterized by problems with regulating body temperature and other abnormalities affecting many parts of the body. It has material basis in mutations in the CRLF1 gene. emitraka 2015-02-06T16:10:07Z MESH:C536214 OMIM:272430 OMIM:610313 ORDO:157820 SNOMEDCT_US_2016_03_01:702363009 UMLS_CUI:C1832409 Crisponi syndrome Sohar-Crisponi syndrome disease_ontology DOID:0060294 NT MGI. cold-induced sweating syndrome An autosomal dominant disease characterized by problems with regulating body temperature and other abnormalities affecting many parts of the body. It has material basis in mutations in the CRLF1 gene. url:http://ghr.nlm.nih.gov/condition/cold-induced-sweating-syndrome url:http://www.ncbi.nlm.nih.gov/pubmed/ emitraka 2015-02-09T15:32:25Z ICD10CM:D84.1 OMIM:217000 ORDO:169147 disease_ontology DOID:0060295 NT MGI. complement component 2 deficiency A secretory diarrhea that has material basis in mutation in the SLC26A3 gene. emitraka 2015-02-09T16:42:50Z MESH:C536210 OMIM:214700 ORDO:53689 SNOMEDCT_US_2016_03_01:24412005 UMLS_CUI:C0267662 congenital chloride diarrhea finnish type congenital chloridorrhea disease_ontology DOID:0060296 NT MGI. congenital secretory chloride diarrhea 1 A secretory diarrhea that has material basis in mutation in the SLC26A3 gene. OMIM:214700 emitraka 2015-02-09T15:32:25Z ICD10CM:D84.1 OMIM:614380 ORDO:169147 disease_ontology DOID:0060297 NT MGI. complement component 4a deficiency emitraka 2015-02-09T15:32:25Z ICD10CM:D84.1 OMIM:614379 ORDO:169147 disease_ontology DOID:0060298 NT MGI. complement component 4b deficiency emitraka 2015-02-09T15:32:25Z ICD10CM:D84.1 OMIM:612446 ORDO:169150 disease_ontology DOID:0060299 NT MGI. complement component 6 deficiency emitraka 2015-02-09T15:32:25Z ICD10CM:D84.1 OMIM:610102 ORDO:1695150 disease_ontology DOID:0060300 NT MGI. complement component 7 deficiency emitraka 2015-02-09T15:32:25Z ICD10CM:D84.1 OMIM:613790 ORDO:169150 disease_ontology DOID:0060301 NT MGI. type I complement component 8 deficiency emitraka 2015-02-09T15:32:25Z ICD10CM:D84.1 OMIM:613789 ORDO:169150 disease_ontology DOID:0060302 NT MGI. type II complement component 8 deficiency emitraka 2015-02-09T15:32:25Z ICD10CM:D84.1 OMIM:613825 ORDO:169150 disease_ontology DOID:0060303 NT MGI. complement component 9 deficiency A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution. emitraka 2015-02-09T16:53:42Z MESH:C535730 OMIM:127500 OMIM:612715 OMIM:615402 ORDO:241 UMLS_CUI:C2930995 disease_ontology DOID:0060304 NT MGI. dyschromatosis universalis hereditaria A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution. url:http://en.wikipedia.org/wiki/Dyschromatosis_universalis_hereditaria url:http://www.ncbi.nlm.nih.gov/pubmed/12372090 A corneal disease characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure. It has material basis in mutation in the CHRDL1 gene. emitraka 2015-02-10T12:29:54Z HP:0007660 MESH:C562829 OMIM:249300 OMIM:309300 ORDO:91489 SNOMEDCT_US_2016_03_01:204118005 SNOMEDCT_US_2016_03_01:204119002 SNOMEDCT_US_2016_03_01:268158009 SNOMEDCT_US_2016_03_01:388840007 SNOMEDCT_US_2016_03_01:39978004 UMLS_CUI:C0344530 anterior megalophthalmos congenital anterior megalophthalmia disease_ontology DOID:0060305 NT MGI. megalocornea A corneal disease characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure. It has material basis in mutation in the CHRDL1 gene. url:http://en.wikipedia.org/wiki/Megalocornea url:http://ghr.nlm.nih.gov/gene/CHRDL1 url:http://www.ncbi.nlm.nih.gov/pubmed/6849653 An autosomal recessive disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia and hypoplastic patellae. emitraka 2015-02-10T12:40:39Z MESH:C538012 OMIM:224690 OMIM:613800 OMIM:613803 OMIM:613804 OMIM:613805 ORDO:2554 SNOMEDCT_US_2016_03_01:703508009 UMLS_CUI:C1868684 ear-patella-short stature syndrome disease_ontology DOID:0060306 NT MGI. Meier-Gorlin syndrome An autosomal recessive disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia and hypoplastic patellae. url:http://en.wikipedia.org/wiki/Pre-replication_complex#Meier-Gorlin_syndrome url:http://ghr.nlm.nih.gov/condition/meier-gorlin-syndrome url:http://www.ncbi.nlm.nih.gov/pubmed/14564153 A non-syndromic intellectual disability characterized by an autosomal dominant inheritance pattern. emitraka 2015-02-10T16:47:55Z OMIM:156200 OMIM:612337 OMIM:612580 OMIM:612581 OMIM:612621 OMIM:613443 OMIM:613970 OMIM:614104 OMIM:614113 OMIM:614254 OMIM:614255 OMIM:614256 OMIM:614257 OMIM:614563 OMIM:614607 OMIM:614608 OMIM:614609 OMIM:615009 OMIM:615074 OMIM:615075 OMIM:615502 OMIM:615761 OMIM:615828 OMIM:615834 OMIM:615873 ORDO:178469 autosomal dominant mental retardation autosomal dominant non-syndromic mental retardation disease_ontology DOID:0060307 NT MGI. autosomal dominant non-syndromic intellectual disability A non-syndromic intellectual disability characterized by an autosomal dominant inheritance pattern. url:http://www.ncbi.nlm.nih.gov/pubmed/21124998 A non-syndromic intellectual disability characterized by an autosomal recessive inheritance pattern. emitraka 2015-02-11T10:32:11Z OMIM:249500 OMIM:607417 OMIM:608443 OMIM:611090 OMIM:611091 OMIM:611092 OMIM:611093 OMIM:611095 OMIM:611096 OMIM:611097 OMIM:611107 OMIM:614020 OMIM:614208 OMIM:614249 OMIM:614329 OMIM:614333 OMIM:614340 OMIM:614341 OMIM:614342 OMIM:614343 OMIM:614344 OMIM:614345 OMIM:614346 OMIM:614347 OMIM:614499 OMIM:615493 OMIM:615516 OMIM:615541 OMIM:615599 OMIM:615637 OMIM:615802 OMIM:615817 OMIM:615942 ORDO:88616 autosomal recessive mental retardation autosomal recessive non-syndromic mental retardation disease_ontology DOID:0060308 NT MGI. autosomal recessive non-syndromic intellectual disability A non-syndromic intellectual disability characterized by an autosomal recessive inheritance pattern. url:http://www.ncbi.nlm.nih.gov/pubmed/21124998 A syndromic intellectual characterized by an X-linked inheritance pattern. emitraka 2015-02-11T16:14:46Z OMIM:PS309510 syndromic X-linked mental retardation disease_ontology DOID:0060309 NT MGI. syndromic X-linked intellectual disability A syndromic intellectual characterized by an X-linked inheritance pattern. url:http://en.wikipedia.org/wiki/X-linked_intellectual_disability An upper respiratory tract disease characterized by the swelling of the uvula to 3-5 times its normal size. emitraka 2015-02-16T13:26:27Z ICD10CM:K12.2 MedDRA:10051962 acute uvulitis disease_ontology DOID:0060310 PRISM. uvulitis An upper respiratory tract disease characterized by the swelling of the uvula to 3-5 times its normal size. url:http://en.wikipedia.org/wiki/Palatine_uvula#Inflammation url:http://www.ncbi.nlm.nih.gov/pubmed/8285973 An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has_symptom snoring, has_symptom hyponasality, has_symptom otitis media with effusion, has symptom mouth breathing. emitraka 2015-02-16T13:35:56Z ICD10CM:J35.2 ICD9CM:474.12 MedDRA:10001229 SNOMEDCT_US_2016_03_01:111591002 SNOMEDCT_US_2016_03_01:195795005 UMLS_CUI:C0149825 adenoidal hypertrophy enlarged adenoids disease_ontology DOID:0060311 PRISM. adenoid hypertrophy An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has_symptom snoring, has_symptom hyponasality, has_symptom otitis media with effusion, has symptom mouth breathing. url:http://en.wikipedia.org/wiki/Adenoid_hypertrophy url:http://www.merckmanuals.com/professional/ear_nose_and_throat_disorders/oral_and_pharyngeal_disorders/adenoid_disorders.html url:http://www.ncbi.nlm.nih.gov/pubmed/21126775 url:http://www.nlm.nih.gov/medlineplus/ency/article/001649.htm A cheilitis characterized by inflammation of one or both of the corners of the mouth. emitraka 2015-02-19T15:57:00Z ICD10CM:K13.0 MESH:D002613 NCI:C79545 SNOMEDCT_US_2016_03_01:155664000 SNOMEDCT_US_2016_03_01:196557006 SNOMEDCT_US_2016_03_01:266495008 SNOMEDCT_US_2016_03_01:7847004 UMLS_CUI:C0007971 angular cheilosis angular stomatitis cheilosis commissural cheilitis disease_ontology DOID:0060312 PRISM. angular cheilitis A cheilitis characterized by inflammation of one or both of the corners of the mouth. url:http://en.wikipedia.org/wiki/Angular_cheilitis A tracheal disease characterized by flaccidity of the tracheal support cartilage. emitraka 2015-02-20T16:02:03Z HP:0002779 ICD10CM:Q32.0 MESH:C557675 ORDO:95430 SNOMEDCT_US_2016_03_01:95467005 UMLS_CUI:C0392109 congenital tracheomalacia disease_ontology DOID:0060313 PRISM. tracheomalacia A tracheal disease characterized by flaccidity of the tracheal support cartilage. url:http://en.wikipedia.org/wiki/Tracheomalacia A lymph node disease characterized by enlarged, non-painful lymph nodes occurring for more than three to six months for which no other reason can be found. emitraka 2015-02-23T14:33:26Z HP:0008940 PGL disease_ontology DOID:0060314 PRISM. persistent generalized lymphadenopathy A lymph node disease characterized by enlarged, non-painful lymph nodes occurring for more than three to six months for which no other reason can be found. ISBN:978-0-443-06839-3 url:http://en.wikipedia.org/wiki/Persistent_generalized_lymphadenopathy A mouth disease characterized by a white patch on the side of the tongue with a corrugated or hairy appearance; caused by Epstein-Barr virus. emitraka 2015-02-23T15:55:53Z ICD10CM:K13.3 MESH:D017733 NCI:C3722 SNOMEDCT_US_2016_03_01:196569003 SNOMEDCT_US_2016_03_01:414952002 SNOMEDCT_US_2016_03_01:58918007 UMLS_CUI:C0206186 hairy leukoplakia disease_ontology DOID:0060315 oral hairy leukoplakia A mouth disease characterized by a white patch on the side of the tongue with a corrugated or hairy appearance; caused by Epstein-Barr virus. url:http://en.wikipedia.org/wiki/Hairy_leukoplakia An orofaciodigital syndrome characterized by polycystic kidney disease and variable involvement of the central nervous system and has_material_basis_in X-linked inheritance of the OFD1 gene. emitraka 2015-03-09T17:15:07Z ICD10CM:Q87.0 MESH:D009958 OMIM:311200 ORDO:2750 SNOMEDCT_US_2016_03_01:1779005 SNOMEDCT_US_2016_03_01:239029009 SNOMEDCT_US_2016_03_01:403773005 SNOMEDCT_US_2016_03_01:52868006 UMLS_CUI:C0026363 UMLS_CUI:C0029294 UMLS_CUI:C1510460 Papillon-Leage-Psaume syndrome orofaciodigital syndrome 1 orofaciodigital syndrome type I disease_ontology DOID:0060316 orofaciodigital syndrome I An orofaciodigital syndrome characterized by polycystic kidney disease and variable involvement of the central nervous system and has_material_basis_in X-linked inheritance of the OFD1 gene. url:http://en.wikipedia.org/wiki/Orofaciodigital_syndrome_1 A lung disease characterized by microbial infection which causes a type of liquefactive necrosis of the pulmonary tissue and formation of cavities containing necrotic debris or fluid. emitraka 2015-02-23T16:58:49Z ICD10CM:J85.2 ICD9CM:513.0 MESH:D008169 NCI:C99090 SNOMEDCT_US_2016_03_01:155618005 SNOMEDCT_US_2016_03_01:196113000 SNOMEDCT_US_2016_03_01:73452002 UMLS_CUI:C0024110 disease_ontology DOID:0060317 lung abscess A lung disease characterized by microbial infection which causes a type of liquefactive necrosis of the pulmonary tissue and formation of cavities containing necrotic debris or fluid. url:http://en.wikipedia.org/wiki/Lung_abscess An acute myeloid leukemia characterized by accumulation of promyelocytes in the bone marrow and by a translocation between chromosomes 15 and 17. emitraka 2015-02-24T16:50:50Z ICD10CM:C92.4 ICD10CM:C92.40 MESH:D015473 NCI:C3182 OMIM:612376 ORDO:520 SNOMEDCT_US_2016_03_01:110004001 SNOMEDCT_US_2016_03_01:28950004 UMLS_CUI:C0023487 APL acute myeloblastic leukemia type 3 acute myeloid leukemia M3 disease_ontology DOID:0060318 acute promyelocytic leukemia An acute myeloid leukemia characterized by accumulation of promyelocytes in the bone marrow and by a translocation between chromosomes 15 and 17. url:http://en.wikipedia.org/wiki/Acute_promyelocytic_leukemia url:http://ghr.nlm.nih.gov/condition/acute-promyelocytic-leukemia A congestive heart failure characterized by a sudden stop in effective blood circulation due to the failure of the heart to contract effectively or at all. emitraka 2015-02-25T15:12:30Z ICD10CM:I46 ICD9CM:427.5 MESH:D006323 NCI:C50479 NCI:C50483 SNOMEDCT_US_2016_03_01:155372006 SNOMEDCT_US_2016_03_01:195085006 SNOMEDCT_US_2016_03_01:195090009 SNOMEDCT_US_2016_03_01:233926006 SNOMEDCT_US_2016_03_01:251189000 SNOMEDCT_US_2016_03_01:30298009 SNOMEDCT_US_2016_03_01:309810002 SNOMEDCT_US_2016_03_01:397829000 SNOMEDCT_US_2016_03_01:397912004 SNOMEDCT_US_2016_03_01:410429000 SNOMEDCT_US_2016_03_01:410430005 UMLS_CUI:C0018790 UMLS_CUI:C0600228 cardiopulmonary arrest circulatory arrest disease_ontology DOID:0060319 cardiac arrest A congestive heart failure characterized by a sudden stop in effective blood circulation due to the failure of the heart to contract effectively or at all. ISBN:0-07-140235-7 url:http://en.wikipedia.org/wiki/Cardiac_arrest url:http://www.nlm.nih.gov/medlineplus/cardiacarrest.html An intestinal disease characterized by a protrusion of abdominal cavity contests through the inguinal canal. emitraka 2015-02-25T15:54:50Z HP:0000023 ICD10CM:K40 ICD10CM:K40.90 ICD9CM:550 MESH:D006552 NCI:C34690 NCI:C34691 NCI:C34692 SNOMEDCT_US_2016_03_01:155738001 SNOMEDCT_US_2016_03_01:155741005 SNOMEDCT_US_2016_03_01:155744002 SNOMEDCT_US_2016_03_01:196800008 SNOMEDCT_US_2016_03_01:196822001 SNOMEDCT_US_2016_03_01:196827007 SNOMEDCT_US_2016_03_01:196828002 SNOMEDCT_US_2016_03_01:261478001 SNOMEDCT_US_2016_03_01:261480007 SNOMEDCT_US_2016_03_01:266440002 SNOMEDCT_US_2016_03_01:266508004 SNOMEDCT_US_2016_03_01:266509007 SNOMEDCT_US_2016_03_01:266510002 SNOMEDCT_US_2016_03_01:286968003 SNOMEDCT_US_2016_03_01:286969006 SNOMEDCT_US_2016_03_01:396232000 SNOMEDCT_US_2016_03_01:44297005 SNOMEDCT_US_2016_03_01:65626001 SNOMEDCT_US_2016_03_01:73147001 UMLS_CUI:C0019294 UMLS_CUI:C0019295 UMLS_CUI:C0019296 disease_ontology DOID:0060320 inguinal hernia An intestinal disease characterized by a protrusion of abdominal cavity contests through the inguinal canal. url:http://en.wikipedia.org/wiki/Inguinal_hernia A intestinal disease characterized by the protrusion by part of the intestine though an opening in the abdominal muscles. emitraka 2015-02-25T15:58:35Z HP:0001537 ICD10CM:Q79.2 ICD9CM:756.72 MESH:D006554 NCI:C98997 SNOMEDCT_US_2016_03_01:157007005 SNOMEDCT_US_2016_03_01:18735004 SNOMEDCT_US_2016_03_01:196854005 SNOMEDCT_US_2016_03_01:196872004 SNOMEDCT_US_2016_03_01:205516007 SNOMEDCT_US_2016_03_01:271017007 SNOMEDCT_US_2016_03_01:396347007 SNOMEDCT_US_2016_03_01:49324006 SNOMEDCT_US_2016_03_01:5867007 UMLS_CUI:C0795690 UMLS_CUI:C1306503 disease_ontology DOID:0060321 umbilical hernia A intestinal disease characterized by the protrusion by part of the intestine though an opening in the abdominal muscles. url:en.wikipedia.org/wiki/Umbilical_hernia url:http://www.mayoclinic.org/diseases-conditions/umbilical-hernia/basics/definition/con-20025630 A middle ear disease characterized by an inflammation of the mucosal lining of the mastoid antrum and the mastoid air cell system inside the mastoid process. emitraka 2015-02-25T16:29:09Z HP:0000265 ICD10CM:H70.9 ICD10CM:H70.90 ICD9CM:383.9 MESH:D008417 SNOMEDCT_US_2016_03_01:155230007 SNOMEDCT_US_2016_03_01:194309002 SNOMEDCT_US_2016_03_01:52404001 UMLS_CUI:C0024904 disease_ontology DOID:0060322 mastoiditis A middle ear disease characterized by an inflammation of the mucosal lining of the mastoid antrum and the mastoid air cell system inside the mastoid process. url:http://en.wikipedia.org/wiki/Mastoiditis url:http://www.nlm.nih.gov/medlineplus/ency/article/001034.htm A breast disease characterized by a collection of pus in the breast. emitraka 2015-02-25T17:21:01Z disease_ontology DOID:0060323 breast abscess A breast disease characterized by a collection of pus in the breast. url:http://en.wikipedia.org/wiki/Mastitis#Breast_abscess A tooth disease characterized by a localized collection of pus associated with a tooth. emitraka 2015-02-25T17:25:03Z ICD10CM:K04.6 disease_ontology DOID:0060324 dental abscess A tooth disease characterized by a localized collection of pus associated with a tooth. url:http://en.wikipedia.org/wiki/Dental_abscess A cervix disease characterized by a benign polyp on the surface of the cervical canal. emitraka 2015-02-25T17:33:54Z HP:0030159 ICD10CM:D26 ICD10CM:D26.9 ICD9CM:219 SNOMEDCT_US_2016_03_01:154628008 SNOMEDCT_US_2016_03_01:189107007 UMLS_CUI:C0153996 disease_ontology DOID:0060325 cervical polyp A cervix disease characterized by a benign polyp on the surface of the cervical canal. ISBN:3-7186-5857-7 url:http://en.wikipedia.org/wiki/Cervical_polyp A spina bifida characterized by protrusion of the spinal cord through an opening, covered by meningeal membranes. emitraka 2015-02-25T17:47:25Z HP:0002475 ICD10CM:Q05 MESH:D008591 NCI:C101201 NCI:C98874 SNOMEDCT_US_2016_03_01:156890007 SNOMEDCT_US_2016_03_01:203984008 SNOMEDCT_US_2016_03_01:203988006 SNOMEDCT_US_2016_03_01:203989003 SNOMEDCT_US_2016_03_01:203993009 SNOMEDCT_US_2016_03_01:203994003 SNOMEDCT_US_2016_03_01:203995002 SNOMEDCT_US_2016_03_01:203999008 SNOMEDCT_US_2016_03_01:268308005 SNOMEDCT_US_2016_03_01:414667000 SNOMEDCT_US_2016_03_01:7096005 SNOMEDCT_US_2016_03_01:82058009 UMLS_CUI:C0025312 UMLS_CUI:C0086664 UMLS_CUI:C0751316 disease_ontology DOID:0060326 myelomeningocele A spina bifida characterized by protrusion of the spinal cord through an opening, covered by meningeal membranes. url:http://en.wikipedia.org/wiki/Spina_bifida#Myelomeningocele url:http://www.nlm.nih.gov/medlineplus/ency/article/001558.htm A physical disorder characterized by a defect in the development of the abdominal wall muscles, resulting in the intestines, liver and other organs to remain outside of the abdomen in a sac. emitraka 2015-02-25T17:54:05Z HP:0001539 ICD10CM:Q79.2 ICD9CM:756.72 MESH:D006554 NCI:C98997 OMIM:164750 SNOMEDCT_US_2016_03_01:157007005 SNOMEDCT_US_2016_03_01:18735004 SNOMEDCT_US_2016_03_01:196854005 SNOMEDCT_US_2016_03_01:196872004 SNOMEDCT_US_2016_03_01:205516007 SNOMEDCT_US_2016_03_01:271017007 SNOMEDCT_US_2016_03_01:396347007 SNOMEDCT_US_2016_03_01:49324006 SNOMEDCT_US_2016_03_01:5867007 UMLS_CUI:C0795690 UMLS_CUI:C1306503 omphalocoele disease_ontology DOID:0060327 omphalocele A physical disorder characterized by a defect in the development of the abdominal wall muscles, resulting in the intestines, liver and other organs to remain outside of the abdomen in a sac. url:http://en.wikipedia.org/wiki/Omphalocele url:http://www.nlm.nih.gov/medlineplus/ency/article/000994.htm An anus disease characterized by is an abnormal connection between the epithelialised surface of the anal canal and the perianal skin. elvira 2015-02-25T19:05:13Z HP:0010447 ICD10CM:K60.3 disease_ontology DOID:0060328 anal fistula An anus disease characterized by is an abnormal connection between the epithelialised surface of the anal canal and the perianal skin. url:http://en.wikipedia.org/wiki/Anal_fistula A female reproductive system disease characterized by the implantation of the embryo outside the uterine cavity. elvira 2015-02-25T19:27:50Z ICD10CM:O00 ICD10CM:O00.9 ICD9CM:633 ICD9CM:633.9 MESH:D011271 NCI:C34945 SNOMEDCT_US_2016_03_01:156080003 SNOMEDCT_US_2016_03_01:156083001 SNOMEDCT_US_2016_03_01:198630007 SNOMEDCT_US_2016_03_01:34801009 UMLS_CUI:C0032987 eccyesis disease_ontology DOID:0060329 ectopic pregnancy A female reproductive system disease characterized by the implantation of the embryo outside the uterine cavity. url:http://en.wikipedia.org/wiki/Ectopic_pregnancy url:http://www.nlm.nih.gov/medlineplus/ency/article/000895.htm An autosomal dominant disease characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth and sweat glands and anhidrotic ectodermal dysplasia with cleft lip/palate. emitraka 2015-03-12T13:47:30Z OMIM:129400 ORDO:3022 anhidrotic ectodermal dysplasia with cleft lip/palate disease_ontology DOID:0060330 Part of AEC spectrum. Research more. Rapp-Hodgkin syndrome An autosomal dominant disease characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth and sweat glands and anhidrotic ectodermal dysplasia with cleft lip/palate. url:http://rarediseases.info.nih.gov/gard/5690/rapp-hodgkin-syndrome/resources/1 A mitochondrial metabolism disease that has material basis in mutation in the TMEM70 gene on chromosome 8q21. emitraka 2015-03-12T16:04:59Z ICD10CM:G71.3 OMIM:614052 ORDO:1194 MC5DN2 neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency disease_ontology DOID:0060331 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 A mitochondrial metabolism disease that has material basis in mutation in the TMEM70 gene on chromosome 8q21. url:http://omim.org/entry/614052 A mitochondrial metabolism disease that has material basis in mutation in the ATP5E gene on chromosome 20q13. emitraka 2015-03-12T16:04:59Z ICD10CM:E88.8 OMIM:614053 ORDO:254913 MC5DN3 disease_ontology DOID:0060332 mitochondrial complex V (ATP synthase) deficiency nuclear type 3 A mitochondrial metabolism disease that has material basis in mutation in the ATP5E gene on chromosome 20q13. url:http://omim.org/entry/614053 A mitochondrial metabolism disease that has material basis in mutation in the ATP5A1 gene on chromosome 18q. emitraka 2015-03-12T16:04:59Z ICD10CM:E88.8 OMIM:615228 ORDO:254913 MC5DN4 disease_ontology DOID:0060333 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 A mitochondrial metabolism disease that has material basis in mutation in the ATP5A1 gene on chromosome 18q. url:http://omim.org/entry/615228 A neonatal diabetes mellitus characterized by hyperglycemia during the neonatal period that remits during infancy but recurs in later life in most patients. emitraka 2015-03-12T16:59:58Z ICD10CM:P70.2 OMIM:601410 OMIM:610374 OMIM:610582 ORDO:99886 disease_ontology DOID:0060334 transient neonatal diabetes mellitus A neonatal diabetes mellitus characterized by hyperglycemia during the neonatal period that remits during infancy but recurs in later life in most patients. url:http://en.wikipedia.org/wiki/Transient_neonatal_diabetes_mellitus url:http://www.ncbi.nlm.nih.gov/pubmed/?term=17349054 A sideroblastic anemia characterized by an autosomal dominant inheritance pattern. emitraka 2015-04-16T10:44:34Z OMIM:182170 disease_ontology DOID:0060335 autosomal dominant sideroblastic anemia A sideroblastic anemia characterized by an autosomal dominant inheritance pattern. url:http://en.wikipedia.org/wiki/Sideroblastic_anemia An organic acidemia that is characterized by elevated levels of 3-methylglutaconic acid and 3-methylglutaric acid in the urine. emitraka 2015-04-16T10:50:48Z ICD10CM:E71.1 MESH:C579867 ORDO:289902 disease_ontology DOID:0060336 3-methylglutaconic aciduria An organic acidemia that is characterized by elevated levels of 3-methylglutaconic acid and 3-methylglutaric acid in the urine. url:https://en.wikipedia.org/wiki/3-Methylglutaconic_aciduria An autosomal recessive disease that has material basis in homozygous mutation in the SNAP29 gene and characterized by a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, facial dysmoprhism, palmoplantar keratoderma and late-onset ichthyosis. emitraka 2015-05-11T10:31:37Z MESH:C537943 OMIM:609528 ORDO:66631 UMLS_CUI:C1836033 cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome disease_ontology DOID:0060337 Flybase. CEDNIK syndrome cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome OMIM:609528 An autosomal recessive disease that has material basis in homozygous mutation in the SNAP29 gene and characterized by a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, facial dysmoprhism, palmoplantar keratoderma and late-onset ichthyosis. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=21073448 An embryonal rhabdomyosarcoma located in the parameningeal region. emitraka 2015-05-14T14:32:27Z disease_ontology DOID:0060338 parameningeal embryonal rhabdomyosarcoma An embryonal rhabdomyosarcoma located in the parameningeal region. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=10717216 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=23021437 A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has material basis in the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO). emitraka 2015-05-18T15:37:53Z OMIM:616201 CAID syndrome disease_ontology DOID:0060339 chronic atrial and intestinal dysrhythmia A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has material basis in the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO). url:http://www.ncbi.nlm.nih.gov/pubmed/?term=25282101 CAID syndrome url:http://www.ncbi.nlm.nih.gov/pubmed/?term=25282101 A genetic disease associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia. emitraka 2015-05-21T10:41:29Z disease_ontology DOID:0060340 ciliopathy A genetic disease associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia. url:http://en.wikipedia.org/wiki/Ciliopathy url:http://www.ncbi.nlm.nih.gov/pubmed/?term=18178628 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=21210154 A physical disorder characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary and cardiovascular anomalies and situs inversus have been reported. emitraka 2015-05-26T16:14:08Z ICD10CM:Q18.2 OMIM:202650 ORDO:990 agnathia-holoprosencephaly-situs inversus syndrome dysgnathia complex agnathia-holoprosencephaly holoprosencephaly-agnathia otocephaly disease_ontology DOID:0060341 agnathia-otocephaly complex A physical disorder characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary and cardiovascular anomalies and situs inversus have been reported. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=17438667 agnathia-holoprosencephaly-situs inversus syndrome ORDO:990 dysgnathia complex agnathia-holoprosencephaly OMIM:202650 holoprosencephaly-agnathia OMIM:202650 otocephaly OMIM:202650 A dysostosis characterized by cranium bifidum, severe hypertelorism, median cleft lip and palate, nasal bifurcation, brachycephaly, large fontanelle, tibial hemimelia, preaxial polydactyly of the feet and brain malformations. emitraka 2015-05-26T16:44:46Z OMIM:603671 disease_ontology DOID:0060342 acromelic frontonasal dysostosis A dysostosis characterized by cranium bifidum, severe hypertelorism, median cleft lip and palate, nasal bifurcation, brachycephaly, large fontanelle, tibial hemimelia, preaxial polydactyly of the feet and brain malformations. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=15264282 An osteoporosis caused by chronic glucocorticoid use. Glucocorticoids impair the replication, differentiation and function of osteoblasts and induce the apoptosis of mature osteoblasts and osteocytes; the also favor osteoclastogenesis leading to an increase in bone resorption. emitraka 2015-05-27T17:07:43Z steroid-induced osteoporosis disease_ontology DOID:0060343 glucocorticoid-induced osteoporosis An osteoporosis caused by chronic glucocorticoid use. Glucocorticoids impair the replication, differentiation and function of osteoblasts and induce the apoptosis of mature osteoblasts and osteocytes; the also favor osteoclastogenesis leading to an increase in bone resorption. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=17566815 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=22870429 An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis. emitraka 2015-05-28T14:45:56Z DERMO:0002165 ICD9CM:701.8 SNOMEDCT_US_2016_03_01:201079006 SNOMEDCT_US_2016_03_01:201088002 UMLS_CUI:C0029805 Herxheimer disease primary diffuse atrophy disease_ontology DOID:0060344 acrodermatitis chronica atrophicans An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis. url:http://en.wikipedia.org/wiki/Acrodermatitis_chronica_atrophicans url:www.dermis.net/dermisroot/en/35111/diagnose.htm A bartonellosis that has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella quintana. The disease is characterized by the proliferation of blood vessels, resulting in them forming tumour-like masses in the skin and other organs. emitraka 2015-05-28T16:26:12Z MESH:D016917 NCI:C3477 SNOMEDCT_US_2016_03_01:58213005 UMLS_CUI:C0085434 disease_ontology DOID:0060345 bacillary angiomatosis A bartonellosis that has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella quintana. The disease is characterized by the proliferation of blood vessels, resulting in them forming tumour-like masses in the skin and other organs. url:http://en.wikipedia.org/wiki/Bacillary_angiomatosis url:http://www.ncbi.nlm.nih.gov/pubmed/?term=9407154 A neuromuscular disease characterized by congenital weakness, arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kykphoscoliosis, talipes deformities and susceptibility to malignant hyperthermia provoked by anesthesia; that has material basis in homozygous mutation in the STAC3 gene on chromosome 12q13. emitraka 2015-06-01T17:47:31Z MESH:C538343 OMIM:255995 ORDO:168572 UMLS_CUI:C1850625 disease_ontology DOID:0060346 Native American myopathy A neuromuscular disease characterized by congenital weakness, arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kykphoscoliosis, talipes deformities and susceptibility to malignant hyperthermia provoked by anesthesia; that has material basis in homozygous mutation in the STAC3 gene on chromosome 12q13. OMIM:255995 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=18553514 A syndrome characterized by limb defects, usually bilateral, like cleft hands or feet and longitudinal defects involving radius or ulna, tibia or fibula and renal anomalies which include agenesis, hypoplasia and rarely polycystic kidneys. Additional malformations may involve the oro-mandibular region, the trachea and lungs, skin derivatives including sweat glands, mammary glands, the uterus, vas deferens, the nasal placodes and the eyes. emitraka 2015-06-04T14:51:42Z MESH:C563159 OMIM:102520 OMIM:201310 UMLS_CUI:C3495490 disease_ontology DOID:0060347 acrorenal syndrome A syndrome characterized by limb defects, usually bilateral, like cleft hands or feet and longitudinal defects involving radius or ulna, tibia or fibula and renal anomalies which include agenesis, hypoplasia and rarely polycystic kidneys. Additional malformations may involve the oro-mandibular region, the trachea and lungs, skin derivatives including sweat glands, mammary glands, the uterus, vas deferens, the nasal placodes and the eyes. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=26019842 An autosomal recessive disease characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation; it is seen among children born to consanguineous couple of Arab ethnicity. elvira 2015-06-19T20:05:16Z MESH:C537157 OMIM:241410 ORDO:2323 UMLS_CUI:C1855840 HRD syndrome Sanjad-Sakati syndrome hypoparathyroidism with short stature, mental retardation and seizures disease_ontology DOID:0060348 hypoparathyroidism-retardation-dysmorphism syndrome An autosomal recessive disease characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation; it is seen among children born to consanguineous couple of Arab ethnicity. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=15645691 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=24339556 A syndrome characterized byvariable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability. elvira 2015-06-24T22:12:55Z MESH:C537711 OMIM:152950 ORDO:2526 UMLS_CUI:C1835265 chorioretinal dysplasia-microcephaly-mental retardation syndrome lymphedema and retinal folds with ficrocephaly and microphthalmos lymphedema, microcephaly and chorioretinopathy syndrome microcephaly lymphedema chorioretinal dysplasia microcephaly, lymphedema, chorioretinal dysplasia syndrome disease_ontology DOID:0060349 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation A syndrome characterized byvariable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability. url:http://www.ncbi.nlm.nih.gov/pubmed/25124931 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=10482868 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=11302131 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=5936364 An amino acid metabolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation. It has an autosomal recessive inheritance pattern. elvira 2015-07-02T16:06:22Z MESH:C538228 NCI:C121564 OMIM:614723 SNOMEDCT_US_2016_03_01:11852004 SNOMEDCT_US_2016_03_01:124274002 UMLS_CUI:C0268120 UMLS_CUI:C3665382 2,8-dihydroxyadenine urolithiasis APRT deficiency disease_ontology DOID:0060350 adenine phosphoribosyltransferase deficiency An amino acid metabolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation. It has an autosomal recessive inheritance pattern. url:http://ghr.nlm.nih.gov/condition/adenine-phosphoribosyltransferase-deficiency url:http://www.ncbi.nlm.nih.gov/pubmed/?term=20150536 url:https://en.wikipedia.org/wiki/Adenine_phosphoribosyltransferase_deficiency A mitochondrial metabolism disease characterized by motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain and has material basis in mutation in the TTC19 gene on chromosome 17. It has an autosomal recessive inheritance pattern. elvira 2015-07-14T16:24:56Z OMIM:615157 MC3DN2 disease_ontology DOID:0060351 mitochondrial complex III deficiency nuclear type 2 A mitochondrial metabolism disease characterized by motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain and has material basis in mutation in the TTC19 gene on chromosome 17. It has an autosomal recessive inheritance pattern. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=21278747 url:http://www.omim.org/entry/615157 A syndrome characterized by childhood hypotonia, a distinctive facial appearance, speech impediments and developmental disability, as well as epilepsy, congenital and urogenetic defects, microcephaly, corpulence, and psychiatric disorders. It is caused either by a microdeletion in the chromosome region 9q34.3 or by a point mutation in the EHMT1 gene located in that region. elvira 2015-07-14T16:49:09Z MESH:C563043 OMIM:610253 ORDO:261494 UMLS_CUI:C0795833 9q subtelomeric deletion syndrome 9q-syndrome 9q34 deletion syndrome disease_ontology DOID:0060352 Kleefstra syndrome A syndrome characterized by childhood hypotonia, a distinctive facial appearance, speech impediments and developmental disability, as well as epilepsy, congenital and urogenetic defects, microcephaly, corpulence, and psychiatric disorders. It is caused either by a microdeletion in the chromosome region 9q34.3 or by a point mutation in the EHMT1 gene located in that region. url:http://ghr.nlm.nih.gov/condition/kleefstra-syndrome url:http://www.ncbi.nlm.nih.gov/pubmed/?term=15264279 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=21245904 url:https://en.wikipedia.org/wiki/9q34_deletion_syndrome An acrofacial dysostosis characterized by a spectrum of mandibulofacial dysostosis phenotypes, such as cleft palate, micrognathia, malar flattening, microcephaly and, in some cases, extrafacial skeletal defects. It is that has material basis in heterozygous mutation in the POLR1A gene on chromosome 2p11. elvira 2015-07-15T16:37:59Z OMIM:616462 disease_ontology DOID:0060353 acrofacial dysostosis Cincinnati type An acrofacial dysostosis characterized by a spectrum of mandibulofacial dysostosis phenotypes, such as cleft palate, micrognathia, malar flattening, microcephaly and, in some cases, extrafacial skeletal defects. It is that has material basis in heterozygous mutation in the POLR1A gene on chromosome 2p11. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=25913037 A blood platelet disease characterized by thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. It has material basis in heterozygous mutation in the STM1 gene on chromosome 11p15. It has an autosomal dominant inheritance pattern. elvira 2015-07-16T16:30:32Z MESH:C566108 OMIM:185070 ORDO:3204 SNOMEDCT_US_2016_03_01:711407000 UMLS_CUI:C1861451 thrombocytopathy, asplenia and miosis disease_ontology DOID:0060354 Stormorken syndrome A blood platelet disease characterized by thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. It has material basis in heterozygous mutation in the STM1 gene on chromosome 11p15. It has an autosomal dominant inheritance pattern. url:http://ghr.nlm.nih.gov/condition/stormorken-syndrome url:http://www.ncbi.nlm.nih.gov/pubmed/?term=24619930 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=25577287 An amyotrophic lateral sclerosis that has material basis in mutation in the TUBA4A gene on chromosome 2q35. elvira 2015-07-22T11:37:41Z OMIM:616208 ALS 22 amyotrohpic lateral sclerosis 22 with or without frontotemporal dementia amyotrophic lateral sclerosis 22 disease_ontology DOID:0060355 amyotrohpic lateral sclerosis type 22 An amyotrophic lateral sclerosis that has material basis in mutation in the TUBA4A gene on chromosome 2q35. url:http://omim.org/entry/616208 An autosomal recessive disease characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. It has material basis in mutation in the EPG5 gene on chromosome 18q12.3. elvira 2015-08-19T16:22:27Z MESH:C535566 OMIM:242840 ORDO:1493 UMLS_CUI:C1855772 immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum disease_ontology DOID:0060356 Vici syndrome An autosomal recessive disease characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. It has material basis in mutation in the EPG5 gene on chromosome 18q12.3. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=21965116 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=23222957 url:https://en.wikipedia.org/wiki/Vici_syndrome A lipid metabolism disorder characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and the absence of chylomicrons and apolipoprotein B48 post-prandially. It has an autosomal recessive inheritance pattern and has material basis in mutations in the SAR1B gene on chromosome 5q31.1. elvira 2015-08-20T12:44:44Z ICD10CM:E78.3 MESH:C535460 OMIM:246700 ORDO:71 SNOMEDCT_US_2016_03_01:190792005 SNOMEDCT_US_2016_03_01:702364003 UMLS_CUI:C0795956 Anderson disease CMRD disease_ontology DOID:0060357 chylomicron retention disease A lipid metabolism disorder characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and the absence of chylomicrons and apolipoprotein B48 post-prandially. It has an autosomal recessive inheritance pattern and has material basis in mutations in the SAR1B gene on chromosome 5q31.1. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=10521380 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=20920215 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=3430059 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=3792776 url:https://en.wikipedia.org/wiki/Chylomicron_retention_disease An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid, amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It has material basis in mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal. elvira 2015-08-20T16:23:47Z ICD10CM:E71.313 MESH:D054069 NCI:C84907 NCI:C99102 OMIM:231680 ORDO:26791 SNOMEDCT_US_2016_03_01:22886006 UMLS_CUI:C0268596 UMLS_CUI:C1856401 UMLS_CUI:C1856403 UMLS_CUI:C1856405 MAD deficiency MADD electron transfer flavoprotein deficiency electron transfer flavoprotein ubiquinone oxidoreductase deficiency glutaric acidemia type 2 glutaric aciduria type 2 disease_ontology DOID:0060358 multiple acyl-CoA dehydrogenase deficiency An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid, amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It has material basis in mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal. url:http://ghr.nlm.nih.gov/condition/glutaric-acidemia-type-ii url:http://www.ncbi.nlm.nih.gov/pubmed/?term=12815589 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=22580358 url:https://en.wikipedia.org/wiki/Glutaric_acidemia_type_2 An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections. elvira 2015-09-03T14:23:46Z ICD10CM:Q87.0 MESH:C537227 OMIM:101120 ORDO:3128 ACPS with leg hypoplasia Sakati-Nyhan-Tisdale syndrome acrocephalopolysyndactyly Type III acrocephalopolysyndactyly type 3 disease_ontology DOID:0060359 Sakati-Nyhan syndrome An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections. url:https://en.wikipedia.org/wiki/Sakati%E2%80%93Nyhan%E2%80%93Tisdale_syndrome A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis. elvira 2015-09-03T14:36:52Z MESH:C566323 OMIM:101840 disease_ontology DOID:0060360 hereditary papulotranslucent acrokeratoderma A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=16409913 A palmoplantar keratosis characterized by keratoses with a "raindrop" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution. elvira 2015-09-03T14:50:46Z ORDO:307967 SNOMEDCT_US_2016_03_01:402773000 UMLS_CUI:C1274216 punctate palmoplantar hyperkeratosis disease_ontology punctate keratosis palmoplantaris DOID:0060361 punctate palmoplantar keratoderma A palmoplantar keratosis characterized by keratoses with a "raindrop" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution. url:https://en.wikipedia.org/wiki/Palmoplantar_keratoderma#Punctate elvira 2015-09-03T15:31:19Z MESH:C535653 OMIM:101850 ORDO:38 SNOMEDCT_US_2016_03_01:111029001 UMLS_CUI:C0545044 acrokeratoelastoidosis of Costa punctate palmoplantar hyperkeratosis type 3 punctate palmoplantar keratoderma type 3 disease_ontology DOID:0060362 punctate palmoplantar keratoderma type III An inherited metabolic disorder characterized_by wide range of phenotypic variability; patients can have severe metabolic and CNS abnormalities, while others possess hyperglycerolemia and glyceroluria with no other apparent phenotype. It has material basis in mutation in the GK gene on chromosome Xp21. elvira 2015-09-17T15:45:20Z OMIM:307030 ORDO:408 SNOMEDCT_US_2016_03_01:297256008 UMLS_CUI:C0574108 disease_ontology DOID:0060363 glycerol kinase deficiency An inherited metabolic disorder characterized_by wide range of phenotypic variability; patients can have severe metabolic and CNS abnormalities, while others possess hyperglycerolemia and glyceroluria with no other apparent phenotype. It has material basis in mutation in the GK gene on chromosome Xp21. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=22427807 url:https://en.wikipedia.org/wiki/Glycerol_kinase_deficiency An autosomal recessive disease characterized_by is a rare autosomal recessive disease, characterized by microcephaly with brain anomalies including CA in some cases, intellectual disability, and early-infantile-onset nephrotic syndrome. elvira 2015-09-17T16:00:31Z MESH:C537548 OMIM:251300 ORDO:2065 UMLS_CUI:C0795949 Galloway syndrome microcephaly, hiatal hernia and nephrotic syndrome nephrosis-microcephaly syndrome nephrosis-neuronal dysmigration syndrome disease_ontology DOID:0060364 Galloway-Mowat syndrome An autosomal recessive disease characterized_by is a rare autosomal recessive disease, characterized by microcephaly with brain anomalies including CA in some cases, intellectual disability, and early-infantile-onset nephrotic syndrome. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=20083416 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=26123727 url:https://en.wikipedia.org/wiki/Galloway_Mowat_syndrome A syndrome characterized_by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia. elvira 2015-09-17T16:20:00Z OMIM:616367 MFDA disease_ontology DOID:0060365 mandibulofacial dysostosis with alopecia A syndrome characterized_by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=25772936 A lymphatic system disease characterized by he presence of intestinal lymphangiectasia, mental retardation, and characteristic facial anomalies. It is inherited in an autosomal recessive pattern. Most individuals with Hennekam syndrome have characteristic facial abnormalities, such as a flat face with accompanying puffy eyelids and hypertelorism; the nasal bridge is typically flat and the ears are typically small. Congenital extremity and genital lymphedema is present in most patients. elvira 2015-09-17T16:36:59Z MESH:C537255 OMIM:235510 OMIM:616006 ORDO:2136 SNOMEDCT_US_2016_03_01:234146006 UMLS_CUI:C0340834 Hennekam lymphangiectasia-lymphedema syndrome lymphedem-lymphangiectasia-intellectual disability syndrome disease_ontology DOID:0060366 Hennekam syndrome A lymphatic system disease characterized by he presence of intestinal lymphangiectasia, mental retardation, and characteristic facial anomalies. It is inherited in an autosomal recessive pattern. Most individuals with Hennekam syndrome have characteristic facial abnormalities, such as a flat face with accompanying puffy eyelids and hypertelorism; the nasal bridge is typically flat and the ears are typically small. Congenital extremity and genital lymphedema is present in most patients. url:http://ghr.nlm.nih.gov/condition/hennekam-syndrome url:http://www.ncbi.nlm.nih.gov/pubmed/?term=14564208 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=24870712 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=2624276 url:https://en.wikipedia.org/wiki/Hennekam_syndrome A Parkinson's disease that has_material_basis_in mutation in the alpha-synuclein (SNCA) gene on chromosome 4q22.1. elvira 2015-09-17T16:48:14Z OMIM:168601 disease_ontology DOID:0060367 autosomal dominant Parkinson disease 1 A Parkinson's disease that has_material_basis_in mutation in the alpha-synuclein (SNCA) gene on chromosome 4q22.1. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=22315721 url:http://www.omim.org/entry/168601 A Parkinson's disease that has_material_basis_in mutation in the parkin gene (PARK2) on chromosome 6q25.2-q27. elvira 2015-09-17T16:56:33Z OMIM:600116 disease_ontology DOID:0060368 autosomal recessive juvenile Parkinson disease 2 A Parkinson's disease that has_material_basis_in mutation in the parkin gene (PARK2) on chromosome 6q25.2-q27. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=22315721 A Parkinson's disease that has_material_basis_in mutations in the PINK1 gene on chromosome 1p36.12. elvira 2015-09-17T17:00:11Z OMIM:605909 early-onset Parkinson disease 6 disease_ontology DOID:0060369 autosomal recessive early-onset Parkinson disease 6 A Parkinson's disease that has_material_basis_in mutations in the PINK1 gene on chromosome 1p36.12. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=22315721 A Parkinson's disease that has_material_basis_in homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36. elvira 2015-09-17T17:04:57Z OMIM:606324 disease_ontology DOID:0060370 autosomal recessive early-onset Parkinson disease 7 A Parkinson's disease that has_material_basis_in homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=22315721 A Parkinson's disease that has_material_basis_in heterozygous mutation in the dardarin encoding gene (LRRK2) on chromosome 12q12. elvira 2015-09-17T17:07:35Z OMIM:607060 disease_ontology DOID:0060371 autosomal dominant Parkinson disease 8 A Parkinson's disease that has_material_basis_in heterozygous mutation in the dardarin encoding gene (LRRK2) on chromosome 12q12. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=22315721 A Parkinson's disease that has_material_basis_in mutation in the FBXO7 gene on chromosome 22q12.3. elvira 2015-09-17T17:13:37Z OMIM:260300 Parkinsonian-pyramidal syndrome pallidopyramidal syndrome disease_ontology DOID:0060372 autosomal recessive early-onset Parkinson disease 15 A Parkinson's disease that has_material_basis_in mutation in the FBXO7 gene on chromosome 22q12.3. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=22315721 elvira 2015-09-18T14:58:32Z MESH:C557817 OMIM:258850 ORDO:2752 SNOMEDCT_US_2016_03_01:239030004 UMLS_CUI:C0406726 Sugarman syndrome disease_ontology DOID:0060373 orofaciodigital syndrome III elvira 2015-09-18T15:00:19Z MESH:C537133 OMIM:258860 ORDO:2753 SNOMEDCT_US_2016_03_01:239031000 UMLS_CUI:C0406727 Baraitser-Burn syndrome OFD4 disease_ontology DOID:0060374 orofaciodigital syndrome IV elvira 2015-09-18T15:00:19Z MESH:C557819 OMIM:174300 ORDO:2919 UMLS_CUI:C1868118 OFD5 orofaciodigital syndrome Thurston type polydactyly, postaxial, with median cleft of upper lip disease_ontology DOID:0060375 orofaciodigital syndrome V A Joubert syndrome subtype with orofaciodigital defect. elvira 2015-09-18T15:00:19Z MESH:C536531 OMIM:277170 ORDO:2754 UMLS_CUI:C2745997 OFD6 Varadi syndrome Varadi-Papp syndrome orofaciodigital syndrome VI disease_ontology DOID:0060376 Joubert syndrome with orofaciodigital defect A Joubert syndrome subtype with orofaciodigital defect. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=23716954 elvira 2015-09-18T15:00:19Z MESH:C563104 OMIM:608518 ORDO:90649 OFD7 Whelan syndrome disease_ontology DOID:0060377 orofaciodigital syndrome VII elvira 2015-09-18T15:00:19Z MESH:C557820 OMIM:300484 ORDO:2755 UMLS_CUI:C0796101 Edwards syndrome OFD8 disease_ontology DOID:0060378 orofaciodigital syndrome VIII elvira 2015-09-21T15:24:28Z disease_ontology DOID:0060379 acrofacial dysostosis elvira 2015-09-18T15:00:20Z ICD10CM:Q87.0 MESH:C563491 OMIM:165590 ORDO:2756 OFD10 orofaciodigital syndrome with fibular aplasia disease_ontology DOID:0060380 orofaciodigital syndrome X elvira 2015-09-18T15:00:20Z MESH:C557821 OMIM:612913 ORDO:141000 UMLS_CUI:C2752048 disease_ontology DOID:0060381 orofaciodigital syndrome XI elvira 2015-09-18T15:24:17Z MESH:C557818 OMIM:258865 ORDO:141007 UMLS_CUI:C0796102 OFD9 orofaciodigital syndrome with retinal abnormalities disease_ontology DOID:0060382 orofaciodigital syndrome IX elvira 2015-09-21T15:30:41Z MESH:C538183 OMIM:201170 ORDO:1788 UMLS_CUI:C1860119 acrofacial dysostosis, syndrome of Rodriguez disease_ontology DOID:0060383 acrofacial dysostosis Rodriguez type elvira 2015-09-21T15:34:09Z MESH:C538182 OMIM:101805 ORDO:1786 UMLS_CUI:C2931762 Opitz Mollica Sorge syndrome Opitz-Caltabiano syndrome disease_ontology DOID:0060384 acrofacial dysostosis, Catania type elvira 2015-09-21T15:38:31Z MESH:C538185 OMIM:601829 ORDO:1787 UMLS_CUI:C1866168 disease_ontology DOID:0060385 acrofacial dysostosis, Patagonia type elvira 2015-09-22T17:10:37Z MESH:C535924 OMIM:610448 OMIM:614415 ORDO:90280 SNOMEDCT_US_2016_03_01:11361009 SNOMEDCT_US_2016_03_01:238928005 SNOMEDCT_US_2016_03_01:72470008 UMLS_CUI:C0024145 disease_ontology DOID:0060386 Chilblain lupus elvira 2015-09-24T16:23:12Z MESH:C537914 OMIM:215045 ORDO:50945 UMLS_CUI:C1859148 Blomstrand lethal chondrodysplasia disease_ontology DOID:0060387 chondrodysplasia Blomstrand type elvira 2015-09-28T15:48:41Z disease_ontology DOID:0060388 chromosomal deletion syndrome elvira 2015-09-28T15:50:18Z MESH:C567385 OMIM:612242 disease_ontology DOID:0060389 chromosome 10q23 deletion syndrome elvira 2015-09-28T16:08:42Z ICD10CM:Q93.5 MESH:C567182 OMIM:609625 ORDO:96148 chromosome 10q26 deletion syndrome distal monosomy 10q monosomy 10qter telomeric deletion 10q terminal chromosome 10q26 deletion syndrome disease_ontology DOID:0060390 distal 10q deletion syndrome elvira 2015-09-28T16:14:46Z ICD10CM:Q93.5 OMIM:613884 ORDO:1587 deletion 13q14 disease_ontology DOID:0060391 chromosome 13q14 deletion syndrome elvira 2015-09-28T16:18:44Z OMIM:613457 ORDO:261120 14q11.2 microdeletion syndrome disease_ontology DOID:0060392 chromosome 14q11-q22 deletion syndrome elvira 2015-09-28T16:21:07Z MESH:C557830 OMIM:615656 ORDO:261183 UMLS_CUI:C3180937 15q11.2 microdeletion syndrome disease_ontology DOID:0060393 chromosome 15q11.2 deletion syndrome elvira 2015-09-28T16:23:21Z ICD10CM:Q93.5 MESH:C567439 OMIM:612001 ORDO:199318 15q13.3 microdeletion syndrome disease_ontology DOID:0060394 chromosome 15q13.3 microdeletion syndrome elvira 2015-09-28T16:25:55Z ICD10CM:Q93.5 MESH:C579849 OMIM:613406 ORDO:94065 15q24 microdeletion syndrome disease_ontology DOID:0060395 chromosome 15q24 deletion syndrome elvira 2015-09-28T16:28:12Z OMIM:614294 disease_ontology DOID:0060396 chromosome 15q25 deletion syndrome elvira 2015-09-28T16:30:51Z ICD10CM:Q93.5 MESH:C567232 OMIM:612626 ORDO:1596 15q26 deletion syndrome Drayer syndrome distal 15q deletion syndrome distal monosomy 15q telomeric 15q deletion syndrome disease_ontology DOID:0060397 chromosome 15q26-qter deletion syndrome elvira 2015-09-28T16:35:34Z ICD10CM:Q93.5 OMIM:613444 ORDO:261222 distal 16p11.2 microdeletion syndrome disease_ontology DOID:0060398 chromosome 16p11.2 deletion syndrome, 220kb elvira 2015-09-28T16:36:57Z OMIM:136570 disease_ontology DOID:0060399 chromosome 16p12.1 deletion syndrome, 520kb elvira 2015-09-28T16:42:38Z ICD10CM:Q93.5 OMIM:613604 ORDO:261211 16p11.2-p12.2 microdeletion syndrome 16p11.2p12.2 microdeletion syndrome disease_ontology DOID:0060400 chromosome 16p12.2-p11.2 deletion syndrome elvira 2015-09-28T16:46:03Z OMIM:614541 disease_ontology DOID:0060401 chromosome 16q22 deletion syndrome elvira 2015-09-28T16:49:53Z MESH:D054221 OMIM:613776 disease_ontology DOID:0060402 chromosome 17p13.1 deletion syndrome elvira 2015-09-28T16:52:05Z ICD10CM:Q85.0 OMIM:613675 ORDO:97685 17q11 microdeletion syndrome NF1 microdeletion syndrome Van Asperen syndrome neurofibromatosis type 1 microdeletion syndrome disease_ontology DOID:0060403 chromosome 17q11.2 deletion syndrome, 1.4Mb elvira 2015-09-28T16:55:38Z ICD10CM:Q93.5 OMIM:614527 ORDO:261265 17q12 microdeletion syndrome disease_ontology DOID:0060404 chromosome 17q12 deletion syndrome elvira 2015-09-28T16:58:27Z ICD10CM:Q93.5 OMIM:613355 ORDO:261279 17q23.1-q23.2 microdeletion syndrome 17q23.1q23.2 microdeletion syndrome disease_ontology DOID:0060405 chromosome 17q23.1-q23.2 deletion syndrome elvira 2015-09-28T17:01:47Z MESH:C538309 NCI:C84521 OMIM:146390 ORDO:1598 SNOMEDCT_US_2016_03_01:205631008 SNOMEDCT_US_2016_03_01:205632001 SNOMEDCT_US_2016_03_01:270890001 UMLS_CUI:C0432442 18p- syndrome De Grouchy syndrome monosomy 18p disease_ontology DOID:0060406 chromosome 18p deletion syndrome elvira 2015-09-28T17:05:53Z ICD10CM:Q93.5 MESH:C536580 OMIM:601808 ORDO:1600 18q- syndrome deletion 18q monosomy 18q disease_ontology DOID:0060407 chromosome 18q deletion syndrome elvira 2015-09-28T17:09:44Z MESH:C567810 OMIM:613026 ORDO:217346 UMLS_CUI:C2751651 19q13.11 microdeletion syndrome monosomy 19q13.11 disease_ontology DOID:0060408 chromosome 19q13.11 deletion syndrome elvira 2015-09-28T17:12:14Z ICD10CM:Q93.5 OMIM:613735 ORDO:401986 1p31p32 microdeletion syndrome disease_ontology DOID:0060409 chromosome 1p32-p31 deletion syndrome elvira 2015-09-28T17:14:10Z MESH:C535362 NCI:C74983 OMIM:607872 ORDO:1606 SNOMEDCT_US_2016_03_01:699306003 UMLS_CUI:C1842870 1p36 deletion syndrome deletion 1p36 monosomy 1p36 disease_ontology subtelomeric 1p36 deletion DOID:0060410 chromosome 1p36 deletion syndrome elvira 2015-09-28T17:17:38Z ICD10CM:Q93.5 OMIM:612474 ORDO:250989 1q21.1 microdeletion syndrome disease_ontology monosomy 1q21.1 DOID:0060411 chromosome 1q21.1 deletion syndrome elvira 2015-09-28T17:24:43Z ICD10CM:Q93.5 OMIM:612530 ORDO:250999 1q41-q42 microdeletion syndrome 1q41q42 microdeletion syndrome disease_ontology DOID:0060412 chromosome 1q41-q42 deletion syndrome elvira 2015-09-28T17:28:28Z OMIM:611867 ORDO:261330 distal 22q11.2 microdeletion syndrome disease_ontology DOID:0060413 chromosome 22q11.2 deletion syndrome, distal elvira 2015-09-28T17:31:12Z OMIM:613564 disease_ontology DOID:0060414 chromosome 2p12-p11.2 deletion syndrome elvira 2015-09-28T17:32:44Z ICD10CM:Q93.5 OMIM:612513 ORDO:261349 2p15p16.1 microdeletion syndrome disease_ontology 2p15-p16.1 microdeletion syndrome DOID:0060415 chromosome 2p16.1-p15 deletion syndrome elvira 2015-09-28T17:36:55Z OMIM:612345 disease_ontology DOID:0060416 chromosome 2q31.2 deletion syndrome elvira 2015-09-28T17:38:32Z ICD10CM:Q93.5 OMIM:613792 ORDO:1620 chromosome 3pter-P25 deletion syndrome distal monosomy 3p disease_ontology DOID:0060417 3p- syndrome elvira 2015-09-28T17:42:28Z MESH:C536808 OMIM:615433 ORDO:1621 UMLS_CUI:C2931338 3q13 microdeletion syndrome monosomy 3q13 disease_ontology DOID:0060418 chromosome 3q13.31 deletion syndrome elvira 2015-09-28T17:45:50Z MESH:C567184 OMIM:609425 ORDO:65286 3q subtelomere deletion syndrome 3q29 microdeletion syndrome 3qter deletion disease_ontology DOID:0060419 chromosome 3q29 microdeletion syndrome elvira 2015-09-28T17:49:18Z OMIM:613509 ORDO:238750 4q21 microdeletion syndrome monosomy 4q21 disease_ontology DOID:0060420 chromosome 4q21 deletion syndrome elvira 2015-09-28T17:52:47Z OMIM:615668 disease_ontology DOID:0060421 chromosome 5q12 deletion syndrome elvira 2015-09-28T17:55:16Z ICD10CM:Q93.5 OMIM:612582 ORDO:96125 6p subtelomeric deletion syndrome 6p25 microdeletion syndrome distal monosomy 6p disease_ontology DOID:0060422 chromosome 6pter-p24 deletion syndrome elvira 2015-09-28T17:58:28Z OMIM:613544 disease_ontology DOID:0060423 chromosome 6q11-q14 deletion syndrome elvira 2015-09-28T17:59:36Z OMIM:612863 ORDO:251056 6q25 microdeletion syndrome monosomy 6q25 disease_ontology DOID:0060424 chromosome 6q24-q25 deletion syndrome elvira 2015-09-28T18:06:23Z ICD10CM:Q93.5 OMIM:614230 ORDO:284160 8q21.11 microdeletion syndrome disease_ontology DOID:0060425 chromosome 8q21.11 deletion syndrome elvira 2015-09-29T15:26:36Z OMIM:613638 disease_ontology DOID:0060426 chromosome 19p13.13 deletion syndrome elvira 2015-09-29T16:13:28Z ICD10CM:Q99.8 OMIM:300679 ORDO:261476 Xp21 microdeletion syndrome complex glycerol kinase deficiency monosomy Xp21 disease_ontology DOID:0060427 chromosome Xp21 deletion syndrome elvira 2015-10-01T15:37:11Z ICD10CM:Q93.5 OMIM:612313 ORDO:251019 2q32-q33 microdeletion syndrome 2q32q33 microdeletion syndrome Glass syndrome monosomy 2q32 monosomy 2q32-q33 monosomy 2q32q33 disease_ontology DOID:0060428 chromosome 2q32-q33 deletion syndrome elvira 2015-10-02T15:19:23Z disease_ontology DOID:0060429 chromosomal duplication syndrome elvira 2015-10-02T15:19:40Z ICD10CM:Q92.3 OMIM:614671 ORDO:370079 proximal 16p11.2 microduplication syndrome proximal dup(16)(p11.2) proximal trisomy 16p11.2 disease_ontology DOID:0060430 chromosome 16p11.2 duplication syndrome elvira 2015-10-02T15:43:05Z ICD10CM:Q92.3 OMIM:613458 ORDO:96078 16p13.3 microduplication syndrome distal duplication 16p distal trisomy 16p telomeric duplication 16p disease_ontology DOID:0060431 chromosome 16p13.3 duplication syndrome elvira 2015-10-02T15:45:43Z ICD10CM:Q92.3 OMIM:613215 ORDO:217385 17p13.3 duplication syndrome 17p13.3 microduplication syndrome chromosome 17p13.3 centromeric duplication syndrome trisomy 17p13.3 disease_ontology DOID:0060432 chromosome 17p13.3 duplication syndrome elvira 2015-10-02T15:49:05Z ICD10CM:Q92.3 OMIM:614526 ORDO:261272 17q12 microduplication syndrome trisomy 17q12 disease_ontology DOID:0060433 chromosome 17q12 duplication syndrome elvira 2015-10-02T15:50:26Z ICD10CM:Q92.3 OMIM:613533 ORDO:217340 17q21.31 microduplication syndrome trisomy 17q21.31 disease_ontology DOID:0060434 chromosome 17q21.31 duplication syndrome elvira 2015-10-02T16:58:42Z ICD10CM:Q92.3 OMIM:612475 ORDO:250994 1q21.1 microduplication syndrome trisomy 1q21.1 disease_ontology DOID:0060435 chromosome 1q21.1 duplication syndrome elvira 2015-10-02T17:02:03Z ICD10CM:Q92.3 OMIM:608363 ORDO:1727 22q11.2 microduplication syndrome duplication 22q11.2 trisomy 22q11.2 disease_ontology DOID:0060436 chromosome 22q11.2 microduplication syndrome elvira 2015-10-02T17:11:03Z OMIM:615538 disease_ontology DOID:0060437 chromosome 22q13 duplication syndrome An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance. elvira 2015-10-06T16:24:18Z MESH:C535963 OMIM:112240 OMIM:616294 ORDO:2050 UMLS_CUI:C1862178 disease_ontology DOID:0060438 Cole-Carpenter syndrome An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=10842295 An amino acid metabolic disorder characterized by the body's inability to effectively break down lysine, arginine and ornithine and by renal hyperdiaminoaciduria, especially lysinuria, and by impaired formation of urea with hyperammonemia after protein ingestion. It has material basis in homozygous or compound heterozygous mutation in the amino acid transporter gene SLC7A7 on chromosome 14q11. elvira 2015-10-13T15:04:00Z MESH:C562687 NCI:C121563 OMIM:222700 ORDO:470 SNOMEDCT_US_2016_03_01:13138006 SNOMEDCT_US_2016_03_01:236476008 SNOMEDCT_US_2016_03_01:237943005 SNOMEDCT_US_2016_03_01:303852004 SNOMEDCT_US_2016_03_01:367410007 UMLS_CUI:C0268647 LPI dibasic amino aciduria II hyperdibasic aminoaciduria disease_ontology DOID:0060439 lysinuric protein intolerance An amino acid metabolic disorder characterized by the body's inability to effectively break down lysine, arginine and ornithine and by renal hyperdiaminoaciduria, especially lysinuria, and by impaired formation of urea with hyperammonemia after protein ingestion. It has material basis in homozygous or compound heterozygous mutation in the amino acid transporter gene SLC7A7 on chromosome 14q11. url:http://ghr.nlm.nih.gov/condition/lysinuric-protein-intolerance url:http://www.ncbi.nlm.nih.gov/books/NBK1361/ url:http://www.ncbi.nlm.nih.gov/pubmed/?term=1155480 url:https://en.wikipedia.org/wiki/Lysinuric_protein_intolerance elvira 2015-10-16T16:37:13Z disease_ontology DOID:0060440 epithelial and subepithelial dystrophy elvira 2015-10-16T16:39:25Z disease_ontology DOID:0060441 epithelial-stromal TGFBI dystrophy elvira 2015-10-16T16:39:25Z disease_ontology DOID:0060442 stromal dystrophy elvira 2015-10-16T16:39:25Z endothelial dystrophy disease_ontology DOID:0060443 corneal endothelial dystrophy elvira 2015-10-16T16:44:27Z MESH:C535474 OMIM:607541 ORDO:98963 SNOMEDCT_US_2016_03_01:397568004 UMLS_CUI:C1275685 CGD2 avellino corneal dystrophy combined granular-lattice corneal dystrophy granular corneal dystrophy type 2 disease_ontology DOID:0060444 granular corneal dystrophy type II elvira 2015-10-16T17:09:23Z ICD10CM:H18.5 MESH:C566452 OMIM:610048 ORDO:101068 CSCD congenital hereditary stromal dystrophy disease_ontology DOID:0060445 congenital stromal corneal dystrophy elvira 2015-10-16T17:13:34Z ICD10CM:H18.5 MESH:C567587 OMIM:300779 ORDO:293621 XECD disease_ontology DOID:0060446 X-linked endothelial corneal dystrophy elvira 2015-10-16T17:17:01Z ICD10CM:H18.5 MESH:C535477 OMIM:121820 ORDO:98956 Cogan corneal dystrophy EBMD microcystic corneal dystrophy disease_ontology DOID:0060447 epithelial basement membrane dystrophy elvira 2015-10-16T17:20:34Z MESH:C563256 OMIM:121850 ORDO:98970 SNOMEDCT_US_2016_03_01:417183007 UMLS_CUI:C1562113 FCD Francois-Neetens speckled corneal dystrophy disease_ontology DOID:0060448 Fleck corneal dystrophy elvira 2015-10-16T17:26:37Z MESH:C535480 OMIM:204870 ORDO:98957 SNOMEDCT_US_2016_03_01:418946006 UMLS_CUI:C0339273 GDCD corneal amyloidosis primary familial amyloidosis of the cornea subepithelial amyloidosis of the cornea disease_ontology DOID:0060449 gelatinous drop-like corneal dystrophy elvira 2015-10-16T17:42:58Z ICD10CM:H18.5 MESH:C567588 OMIM:300778 ORDO:98955 LECD band-shaped and whorled microcystic disease_ontology DOID:0060450 Lisch epithelial corneal dystrophy elvira 2015-10-16T17:45:27Z ICD10CM:H18.52 ICD9CM:371.51 MESH:D053559 NCI:C84795 OMIM:122100 ORDO:98954 SNOMEDCT_US_2016_03_01:1674008 SNOMEDCT_US_2016_03_01:193833008 UMLS_CUI:C0339277 MECD Stocker-Holt dystrophy juvenile hereditary epithelial dystrophy disease_ontology DOID:0060451 Meesmann corneal dystrophy elvira 2015-10-16T17:48:04Z ICD10CM:H18.5 MESH:C567546 OMIM:612868 ORDO:98971 PACD disease_ontology DOID:0060452 posterior amorphous corneal dystrophy elvira 2015-10-16T17:51:03Z MESH:C535476 OMIM:608470 ORDO:98961 SNOMEDCT_US_2016_03_01:231930000 UMLS_CUI:C0339278 RBCD anterior limiting membrane dystrophy type I corneal dystrophy of Bowman layer type I geographic corneal dystrophy granular corneal dystrophy type III disease_ontology DOID:0060453 Reis-Bucklers corneal dystrophy elvira 2015-10-16T17:55:14Z ICD10CM:H18.5 MESH:C567547 OMIM:612867 ORDO:98959 SMCD disease_ontology DOID:0060454 subepithelial mucinous corneal dystrophy elvira 2015-10-16T17:57:16Z MESH:C535942 OMIM:602082 ORDO:98960 SNOMEDCT_US_2016_03_01:417065002 UMLS_CUI:C1562894 TBCD Waardenburg-Jonker corneal dystrophy anterior limiting membrane dystrophy type II corneal dystrophy honeycomb-shaped corneal dystrophy of Bowman layer type II disease_ontology DOID:0060455 Thiel-Behnke corneal dystrophy elvira 2015-10-16T18:01:14Z MESH:C535475 OMIM:121800 ORDO:98967 SNOMEDCT_US_2016_03_01:39662004 SNOMEDCT_US_2016_03_01:419395007 SNOMEDCT_US_2016_03_01:420212002 UMLS_CUI:C0271287 SCCD Schnyder crystalline corneal dystrophy corneal dystrophy crystalline of Schnyder crystalline stromal dystrophy hereditary crystalline stromal dystrophy of Schnyder disease_ontology DOID:0060456 Schnyder corneal dystrophy elvira 2015-10-16T18:05:26Z ICD10CM:H18.5 MESH:C562745 OMIM:122000 OMIM:609140 OMIM:609141 ORDO:98973 PPCD Schlichting dystrophy hereditary polymorphus posterior corneal dystrophy disease_ontology DOID:0060457 posterior polymorphous corneal dystrophy elvira 2015-10-19T14:42:34Z OMIM:613681 disease_ontology DOID:0060458 chromosome 2q31.1 duplication syndrome elvira 2015-10-19T14:45:49Z ICD10CM:Q92.3 MESH:C567626 OMIM:611936 ORDO:251038 3q29 microduplication trisomy 3q29 disease_ontology DOID:0060459 chromosome 3q29 microduplication syndrome elvira 2015-10-19T15:25:26Z ICD10CM:Q92.3 OMIM:613174 ORDO:329802 5p13 microduplication syndrome trisomy 5p13 disease_ontology DOID:0060460 chromosome 5p13 duplication syndrome elvira 2015-10-19T15:29:51Z ICD10CM:Q99.8 OMIM:300801 ORDO:217377 microduplication Xp11.22-p11.23 syndrome trisomy Xp11.22-p11.23 disease_ontology DOID:0060461 chromosome Xp11.23-p11.22 duplication syndrome An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx. elvira 2015-11-02T16:22:42Z MESH:C535943 OMIM:251450 OMIM:615777 ORDO:1425 SNOMEDCT_US_2016_03_01:254099008 UMLS_CUI:C0432242 Desbuquois syndrome micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification disease_ontology DOID:0060462 Desbuquois dysplasia An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=19853239 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=21037275 A carcinoma that is characterized by a BRD4-NUT translocation involving the rearrangement of the bromodomain-containing protein 4 (BRD4) and the gene encoding nuclear protein of the testis (NUT) at 15q14, BRD4-NUT t(15;19)(q14;q13.1) and arises from midline epithelial structures, most commonly the head, neck, and mediastinum. elvira 2015-11-04T14:54:36Z NCI:C45716 UMLS_CUI:C1707291 nuclear protein in testis midline carcinoma disease_ontology DOID:0060463 NUT midline carcinoma A carcinoma that is characterized by a BRD4-NUT translocation involving the rearrangement of the bromodomain-containing protein 4 (BRD4) and the gene encoding nuclear protein of the testis (NUT) at 15q14, BRD4-NUT t(15;19)(q14;q13.1) and arises from midline epithelial structures, most commonly the head, neck, and mediastinum. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=21221870 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=25685583 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=26378054 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=26402248 url:https://en.wikipedia.org/wiki/NUT_midline_carcinoma url:https://omim.org/entry/608749 url:https://omim.org/entry/608963 An autosomal dominant disease characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation. elvira 2015-11-04T16:11:58Z ICD10CM:Q87.8 MESH:C537734 OMIM:164280 OMIM:614326 ORDO:1305 FGLDS MODED syndrome ODED syndrome digital anomalies with short palpebral fissures and atresia of esophagus or duodenum microcephaly-digital anomalies-normal intelligence syndrome microcephaly-oculo-digito-esophageal-duodenal syndrome oculo-digito-esophageal-duodenal syndrome disease_ontology DOID:0060464 Feingold syndrome An autosomal dominant disease characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation. url:http://ghr.nlm.nih.gov/condition/feingold-syndrome url:http://www.ncbi.nlm.nih.gov/pubmed/?term=14518066 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=16906565 url:https://en.wikipedia.org/wiki/Feingold_syndrome elvira 2015-11-04T16:24:41Z MESH:C562524 OMIM:228520 OMIM:614524 ORDO:2021 SNOMEDCT_US_2016_03_01:17144009 UMLS_CUI:C0265282 disease_ontology DOID:0060465 fibrochondrogenesis A gingival overgrowth characterized by benign, slowly progressive, nonhemorrhagic, fibrous enlargement of the oral masticatory mucosa. elvira 2015-11-04T16:47:21Z MESH:C562884 OMIM:135300 OMIM:605544 OMIM:609955 OMIM:611010 ORDO:2024 SNOMEDCT_US_2016_03_01:109620006 UMLS_CUI:C0399440 hereditary gingival fibromatosis hereditary gingival hyperplasia disease_ontology DOID:0060466 gingival fibromatosis A gingival overgrowth characterized by benign, slowly progressive, nonhemorrhagic, fibrous enlargement of the oral masticatory mucosa. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=11868160 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=17385395 elvira 2015-11-11T21:29:39Z ICD10CM:Q74.0 OMIM:143050 OMIM:236400 ORDO:3265 UMLS_CUI:C0431800 disease_ontology humero-radial fusion DOID:0060467 humeroradial synostosis An autosomal dominant disease characterized by congenital anomalies located_in heart and located_in upper limb. elvira 2015-11-17T16:06:23Z ICD10CM:Q87.2 MESH:C535326 OMIM:142900 ORDO:392 SNOMEDCT_US_2016_03_01:19092004 SNOMEDCT_US_2016_03_01:205814003 UMLS_CUI:C0265264 atrio-digital syndrome atriodigital dysplasia heart-hand syndrome disease_ontology DOID:0060468 Holt-Oram syndrome An autosomal dominant disease characterized by congenital anomalies located_in heart and located_in upper limb. url:http://ghr.nlm.nih.gov/condition/holt-oram-syndrome url:http://www.ncbi.nlm.nih.gov/pubmed/?term=12223419 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=12436037 url:https://en.wikipedia.org/wiki/Holt-Oram_syndrome A syndrome characterized by classical lissencephaly and distinct facial features. Visible and submicroscopic deletions of 17p13.3, including the LIS1 gene, are found in almost 100% of patients. elvira 2015-11-17T16:22:00Z ICD10CM:Q04.3 OMIM:247200 ORDO:531 UMLS_CUI:C0265219 MDS Miller-Dieker syndrome disease_ontology DOID:0060469 Miller-Dieker lissencephaly syndrome A syndrome characterized by classical lissencephaly and distinct facial features. Visible and submicroscopic deletions of 17p13.3, including the LIS1 gene, are found in almost 100% of patients. url:http://ghr.nlm.nih.gov/condition/miller-dieker-syndrome url:http://www.ncbi.nlm.nih.gov/pubmed/?term=21239872 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=9473821 url:https://en.wikipedia.org/wiki/Miller-Dieker_syndrome An autosomal recessive disease characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation. elvira 2015-11-17T16:40:23Z ORDO:370938 salt & pepper syndrome salt-and-pepper syndrome disease_ontology DOID:0060470 salt and pepper syndrome An autosomal recessive disease characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=24026681 A syndrome characterized by distinctive facial appearance, a cluster of minor and major anomalies and central nervous system dysfunction. elvira 2015-11-17T16:47:50Z MESH:C536525 NCI:C98930 OMIM:609442 ORDO:1906 SNOMEDCT_US_2016_03_01:17231009 SNOMEDCT_US_2016_03_01:205792006 UMLS_CUI:C0236026 fetal valproic acid syndrome disease_ontology DOID:0060471 fetal valproate syndrome A syndrome characterized by distinctive facial appearance, a cluster of minor and major anomalies and central nervous system dysfunction. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=17090909 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=25400349 A skin disease characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling. elvira 2015-11-17T16:54:49Z MESH:C536321 OMIM:173650 ORDO:306539 hereditary acrokeratotic poikiloderma of Kindler-Weary poikiloderma of Kindler disease_ontology DOID:0060472 Kindler syndrome A skin disease characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=12668616 url:https://en.wikipedia.org/wiki/Kindler_syndrome A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects. elvira 2015-11-18T16:21:35Z MESH:C537705 OMIM:147920 OMIM:300867 ORDO:2322 SNOMEDCT_US_2016_03_01:205805008 SNOMEDCT_US_2016_03_01:313426007 UMLS_CUI:C0796004 KMS Kabuki make up syndrome Niikawa-Kuroki syndrome disease_ontology DOID:0060473 Kabuki syndrome A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects. url:http://ghr.nlm.nih.gov/condition/kabuki-syndrome url:http://www.ncbi.nlm.nih.gov/pubmed/?term=25281733 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=25972376 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=26512256 url:https://en.wikipedia.org/wiki/Kabuki_syndrome elvira 2015-11-18T16:42:50Z ICD10CM:D75.1 OMIM:263400 ORDO:238557 Chuvash erythromatosis Chuvash type polycythemia autosomal recessive benign erythrocytosis familial erythrocytosis 2 disease_ontology DOID:0060474 Chuvash polycythemia An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability. elvira 2015-11-19T16:30:12Z OMIM:615369 EEOC disease_ontology DOID:0060475 childhood onset epileptic encephalopathy An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability. url:http://omim.org/entry/615369 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=23708187 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=24207121 A syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome. elvira 2015-11-20T16:04:30Z ICD10CM:Q87.3 MESH:C536399 OMIM:267000 ORDO:2849 nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor renal hamartomas, nephroblastomatosis and fetal gigantism disease_ontology DOID:0060476 Perlman syndrome A syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=18780370 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=22306653 url:https://en.wikipedia.org/wiki/Perlman_syndrome A viral infectious disease that has_material_basis in Zika virus, which is transmitted_by Aedes aegypti mosquitoes and targets neural progenitor cells and neuronal cells in all stages of maturity and has_symptom fever, has_symptom rash, has_symptom headaches and has_symptom joint pain. ICD10:U06 ICD10CM:A92.8 MESH:D000071243 Zika virus disease Zika fever A viral infectious disease that has_material_basis in Zika virus, which is transmitted_by Aedes aegypti mosquitoes and targets neural progenitor cells and neuronal cells in all stages of maturity and has_symptom fever, has_symptom rash, has_symptom headaches and has_symptom joint pain. url: http://ecdc.europa.eu/en/healthtopics/zika_virus_infection/factsheet-health-professionals/Pages/factsheet_health_professionals.aspx url: https://en.wikipedia.org/wiki/Zika_fever url:http://www.who.int/mediacentre/factsheets/zika/en/ url:https://www.cdc.gov/zika/about/ A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities. ICD10CM:D61.0 MESH:C537330 OMIM:260400 Shwachman syndrome Shwachman-Bodian-Diamond syndrome pancreatic insufficiency and bone marrow dysfunction Shwachman-Diamond syndrome A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities. url:http://ghr.nlm.nih.gov/condition/shwachman-diamond-syndrome url:http://www.ncbi.nlm.nih.gov/pubmed/?term=18356737 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=22201042 url:https://en.wikipedia.org/wiki/Shwachman-Diamond_syndrome An intrinsic cardiomyopathy characterized by distinctive (spongy) morphological appearance of the LV myocardium. OMIM:604169 ORDO:54260 left ventricular hypertrabeculation left ventricular noncompaction An intrinsic cardiomyopathy characterized by distinctive (spongy) morphological appearance of the LV myocardium. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=16567565 A syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease (HSCR). It has material basis in homozygous mutation in the KIAA1279 gene on chromosome 10q21.1. MESH:C537279 OMIM:609460 ORDO:66629 UMLS_CUI:C1836123 Goldberg-Shprintzen megacolon syndrome Goldberg-Shprintzen syndrome A syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease (HSCR). It has material basis in homozygous mutation in the KIAA1279 gene on chromosome 10q21.1. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=15883926 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=23427148 url:https://en.wikipedia.org/wiki/Goldberg-Shprintzen_syndrome A syndrome characterized by microcornea, microphthalmia, anterior-segment dysgenesis, cataract, coloboma of various parts of the eye, abnormalities of the retinal pigment epithelium, and rod-cone dystrophy and a particular cleft ear lobule. ICD10CM:Q87.8 MESH:C567416 OMIM:612109 ORDO:157962 oculoauricular syndrome A syndrome characterized by microcornea, microphthalmia, anterior-segment dysgenesis, cataract, coloboma of various parts of the eye, abnormalities of the retinal pigment epithelium, and rod-cone dystrophy and a particular cleft ear lobule. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=18423520 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=25574057 A syndrome characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It is cause by homozygous mutation in the AP1S1 gene on chromosome 7q22. OMIM:609313 ORDO:171851 erythrokeratodermia variabilis 3 erythrokeratodermia variabilis, Kamouraska type mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia DOID:0060483 MEDNIK syndrome A syndrome characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It is cause by homozygous mutation in the AP1S1 gene on chromosome 7q22. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=23423674 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=24754424 A syndrome characterize by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance. It has material basis in homozygous or compound heterozygous mutation in the KCNJ10 gene on chromosome 1q23. MESH:C557674 OMIM:612780 ORDO:199343 UMLS_CUI:C2748572 SeSAME syndrome epilepsy, ataxia, sensorineural deafness and tubulopathy seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance EAST syndrome A syndrome characterize by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance. It has material basis in homozygous or compound heterozygous mutation in the KCNJ10 gene on chromosome 1q23. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=19289823 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=19420365 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=23471908 A syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin), moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease, genitourinary anomalies (in particular hypospadias in males), congenital heart defects, agenesis of the corpus callosum and eye anomalies. It has material basis in de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22. MESH:C536990 NCI:C74999 OMIM:235730 ORDO:2152 SNOMEDCT_US_2016_03_01:703535000 UMLS_CUI:C1856113 Hirschsprung disease mental retardation syndrome microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease Mowat-Wilson syndrome A syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin), moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease, genitourinary anomalies (in particular hypospadias in males), congenital heart defects, agenesis of the corpus callosum and eye anomalies. It has material basis in de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=17958891 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=23466526 A syndrome characterized by parkinsonism, hypoventilation, depression, and weight loss; that has material basis in heterozygous mutation in the DCTN1 gene on chromosome 2p13.. The mean age at onset is 48 years; the mean disease duration is five years. Parkinsonism and psychiatric changes (depression, apathy, character changes, and withdrawal) tend to occur early; severe weight loss and hypoventilation manifest later. MESH:C566822 OMIM:168605 ORDO:178509 parkinsonism with alveolar hypoventilation and mental depression Perry syndrome A syndrome characterized by parkinsonism, hypoventilation, depression, and weight loss; that has material basis in heterozygous mutation in the DCTN1 gene on chromosome 2p13.. The mean age at onset is 48 years; the mean disease duration is five years. Parkinsonism and psychiatric changes (depression, apathy, character changes, and withdrawal) tend to occur early; severe weight loss and hypoventilation manifest later. url:http://www.ncbi.nlm.nih.gov/books/NBK47027/ A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures (epilepsy), and distinctive facial features. It has material basis in heterozygous de novo mutations in the TCF4 gene in chromosome 18q21. MESH:C537403 OMIM:610954 ORDO:2896 SNOMEDCT_US_2016_03_01:702344008 UMLS_CUI:C1970431 Pitt-Hopkins syndrome A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures (epilepsy), and distinctive facial features. It has material basis in heterozygous de novo mutations in the TCF4 gene in chromosome 18q21. url:http://ghr.nlm.nih.gov/condition/pitt-hopkins-syndrome url:http://www.ncbi.nlm.nih.gov/pubmed/?term=17436255 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=26621827 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=728011 url:https://en.wikipedia.org/wiki/Pitt-Hopkins_syndrome A spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules, unusual facies, proteinuria with progressive renal failure, lymphopenia with recurrent infections, and cerebral ischaemia. It has material basis in mutations in the SMARCAL1 gene. MESH:C536629 OMIM:242900 ORDO:1830 UMLS_CUI:C0877024 Schimke immunoosseous dysplasia Schimke syndrome immunoosseous dysplasia Schimke type spondyloepiphyseal dysplasia - nephrotic syndrome Schimke immuno-osseous dysplasia A spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules, unusual facies, proteinuria with progressive renal failure, lymphopenia with recurrent infections, and cerebral ischaemia. It has material basis in mutations in the SMARCAL1 gene. ISBN:0124058604 url:http://ghr.nlm.nih.gov/condition/schimke-immuno-osseous-dysplasia url:http://www.ncbi.nlm.nih.gov/books/NBK1376/ url:http://www.ncbi.nlm.nih.gov/pubmed/?term=10653321 A neurodegenerative disease characterized by spastic paraplegia, axonal neuropathy, dysarthria, acoustic startle, and congenital optical atrophy. It has material basis in homozygous mutation in the KLC2 gene on chromosome 11q13.2. ICD10CM:G11.4 MESH:C563702 OMIM:609541 ORDO:320406 spastic paraplegia, optic atropy, and neuropathy spastic paraplegia, optic atropy, and neuropathy syndrome SPOAN syndrome A neurodegenerative disease characterized by spastic paraplegia, axonal neuropathy, dysarthria, acoustic startle, and congenital optical atrophy. It has material basis in homozygous mutation in the KLC2 gene on chromosome 11q13.2. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=15852396 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=26385635 An egg allergy triggered by Gallus gallus eggs. Gallus gallus egg allergy DOID:0060492 chicken egg allergy A food allergy triggered by Crustacea or Mollusca. DOID:0060495 shellfish allergy A hypersensitivity reaction type I disease located in the respiratory tract. airway allergy DOID:0060496 respiratory allergy A respiratory allergy triggered by pollen. DOID:0060497 pollen allergy A pollen allergy triggered by Phleum pratense pollen. DOID:0060498 Timothy grass allergy An autoimmune disease of centreal nervous system caused by an autoimmune response. DOID:0060499 autoimmune neuropathy A hypersensitivity reaction type I disease triggered by a drug. DOID:0060500 drug allergy A hypersensitivity reaction type I disease triggered by a metal. DOID:0060501 metal allergy A hypersensitivity reaction type I disease located in the gastrointestinal tract. DOID:0060502 gastrointestinal allergy A food allergy triggered by a plant fruit product. DOID:0060503 fruit allergy A fruit allergy triggered by Malus domestica plant fruit food product. Malus domestica fruit allergy DOID:0060504 apple allergy A fruit allergy triggered by Prunus armeniaca plant fruit food product. Prunus armeniaca fruit allergy DOID:0060505 apricot allergy A fruit allergy triggered by Prunus avium plant fruit food product. Prunus avium fruit allergy DOID:0060506 cherry allergy A fruit allergy triggered by Ziziphus mauritiana plant fruit food product. Ziziphus mauritiana fruit allergy DOID:0060507 Indian plum allergy A fruit allergy triggered by Citrus sinensis plant fruit food product. Citrus sinensis fruit allergy DOID:0060508 orange allery A fruit allergy triggered by Cucumis melo plant fruit food product. Cucumis melo fruit allergy DOID:0060509 melon allergy A fruit allergy triggered by Prunus persica plant fruit food product. Prunus persica fruit allergy DOID:0060510 peach allergy A fruit allergy triggered by Prunus domestica plant fruit food product. Prunus domestica fruit allergy DOID:0060511 plum allergy A fruit allergy triggered by Solanum lycopersicum plant fruit food product. Solanum lycopersicum fruit allergy DOID:0060512 tomato allergy A food allergy triggered by fish. DOID:0060513 fish allergy A fish allergy triggered by Gadus morhua. Gadus morhua fish allergy DOID:0060514 Atlantic cod allergy A fish allergy triggered by Salmo salar. Salmo salar fish allergy DOID:0060515 Atlantic salmon allergy A fish allergy triggered by Cyprinus carpio. Cyprinus carpio fish allergy DOID:0060516 carp allergy A fish allergy triggered by Danio rerio. Danio rerio allergy DOID:0060517 zebrafish allergy A fish allergy triggered by Oncorhynchus mykiss. Oncorhynchus mykiss allergy DOID:0060518 rainbow trout allergy A drug allergy triggered by a beta-lactam. beta-lactam allergy A beta-lactam allergy triggered by penicillin. DOID:0060520 penicillin allergy A milk allergy triggered by Bos taurus milk. Bos taurus milk allergy DOID:0060521 cow milk allergy A milk allergy triggered by Capra hircus milk. Capra hircus milk allergy DOID:0060522 goat milk allergy A shellfish allergy triggered by Mollusca. DOID:0060523 mollusc allergy A shellfish allergy triggered by Crustacea. DOID:0060524 crustacean allergy A crustacean allergy triggered by Farfantepenaeus aztecus. Farfantepenaeus aztecus allergy DOID:0060525 brown shrimp allergy A crustacean allergy triggered by Scylla paramamosain. Scylla paramamosain allergy DOID:0060526 green mud crab allergy A crustacean allergy triggered by Fenneropenaeus indicus. Fenneropenaeus indicus allergy DOID:0060527 Indian prawn allergy A crustacean allergy triggered by Penaeus monodon. Penaeus monodon allergy DOID:0060528 tiger prawn allergy A crustacean allergy triggered by Litopenaeus vannamei. Litopenaeus vannamei allergy DOID:0060529 white shrimp allergy A mollusc allergy triggered by snails. DOID:0060530 snail allergy A snail allergy triggered by Turbo cornutus. Turbo cornutus allergy DOID:0060531 horned turban snail allergy A hypersensitivity reaction type I disease triggered by latex. DOID:0060532 latex allergy An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver. NCI:C66950 hepatoid adenocarcinoma An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver. ISBN:9789283224327 A syndrome mainly characterized by severe growth retardation and microcephaly. It is a new form of cohesinopathy showing defects in sister chromatid cohesion and hypersensitivity to chemicals that induce replication stress, thus combining distinct cytogenetic features seen in Roberts syndrome and Fanconi anemia, respectively. It has material basis in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11. OMIM:613398 ORDO:280558 WABS Warsaw breakage syndrome A syndrome mainly characterized by severe growth retardation and microcephaly. It is a new form of cohesinopathy showing defects in sister chromatid cohesion and hypersensitivity to chemicals that induce replication stress, thus combining distinct cytogenetic features seen in Roberts syndrome and Fanconi anemia, respectively. It has material basis in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=20137776 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=21490908 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=23033317 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=26089203 A mitochondrial metabolism disease characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome. It can have material basis in mutations in multiple different genes, both nuclear-encoded and mitochondrial-encoded. MESH:C537475 OMIM:252010 ORDO:2609 UMLS_CUI:C2936907 isolated NADH-CoQ reductase deficiency isolated NADH-coenzyme Q reductase deficiency isolated NADH-ubiquinone reductase deficiency isolated mitochondrial respiratory chain complex I deficiency DOID:0060536 mitochondrial complex I deficiency A mitochondrial metabolism disease characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome. It can have material basis in mutations in multiple different genes, both nuclear-encoded and mitochondrial-encoded. url:http://www.omim.org/entry/252010 A mitochondrial metabolism disease characerized by a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. It has material basis in homozygous or compound heterozygous mutation in the nuclear-encoded SDHA gene on chromosome 5p, the nuclear-encoded SDHAF1 gene on chromosome 19q, or the nuclear-encoded SDHD gene on chromosome 11q23. ICD10CM:G71.3 MESH:C565375 OMIM:252011 ORDO:3208 isolated mitochondrial respiratory chain complex II deficiency isolated succinate-CoQ reductase deficiency isolated succinate-coenzyme Q reductase deficiency isolated succinate-ubiquinone reductase deficiency mitochondrial complex II deficiency A mitochondrial metabolism disease characerized by a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. It has material basis in homozygous or compound heterozygous mutation in the nuclear-encoded SDHA gene on chromosome 5p, the nuclear-encoded SDHAF1 gene on chromosome 19q, or the nuclear-encoded SDHD gene on chromosome 11q23. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=23322652 A purpura characterized blood spots, bruising and discolouration of the skin resulting from coagulation in small blood vessels within the skin and rapidly leads to skin necrosis and disseminated intravascular coagulation. It is often fatal. ICD10CM:D65 MESH:D055665 purpura gangrenosa purpura fulminans A purpura characterized blood spots, bruising and discolouration of the skin resulting from coagulation in small blood vessels within the skin and rapidly leads to skin necrosis and disseminated intravascular coagulation. It is often fatal. ORDO:49566 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=26955583 url:https://en.wikipedia.org/wiki/Purpura_fulminans A type of Hermansky-Pudlak syndrome that has material basis in homozygous or compound heterozygous mutation in the HPS1 gene on chromosome 10q24. OMIM:203300 Hermansky-Pudlak syndrome 1 A type of Hermansky-Pudlak syndrome that has material basis in homozygous or compound heterozygous mutation in the HPS1 gene on chromosome 10q24. url:http://omim.org/entry/203300 A type of Hermansky-Pudlak syndrome that has material basis in homozygous or compound heterozygous mutation in the gene encoding the beta-3A subunit of the AP3 complex (AP3B1) on chromosome 5q14.1. OMIM:608233 Hermansky-Pudlak syndrome 2 A type of Hermansky-Pudlak syndrome that has material basis in homozygous or compound heterozygous mutation in the gene encoding the beta-3A subunit of the AP3 complex (AP3B1) on chromosome 5q14.1. url:http://omim.org/entry/608233 A type of Hermasky-Pudlak syndrome caused by homozygous or compound heterozygous mutation in the HPS3 gene on chromosome 3q24. OMIM:614072 Hermansky-Pudlak syndrome 3 A type of Hermasky-Pudlak syndrome caused by homozygous or compound heterozygous mutation in the HPS3 gene on chromosome 3q24. url:http://omim.org/entry/614072 A type of Hermansky-Pudlak syndrome that has material basis in homozygous or compound heterozygous mutation in the HPS4 gene on chromosome 22q12.1. OMIM:614073 Hermansky-Pudlak syndrome 4 A type of Hermansky-Pudlak syndrome that has material basis in homozygous or compound heterozygous mutation in the HPS4 gene on chromosome 22q12.1. url:http://omim.org/entry/614073 A type of Hermansky-Pudlak syndrome that has material basis in homozygous mutation in the HPS5 gene on chromosome 11p14. OMIM:614074 Hermansky-Pudlak syndrome 5 A type of Hermansky-Pudlak syndrome that has material basis in homozygous mutation in the HPS5 gene on chromosome 11p14. url:http://omim.org/entry/614074 A type of Hermansky-Pudlak syndrome that has material basis in homozygous or compound heterozygous mutation in the HPS6 gene on chromosome 10q24. OMIM:614075 Hermansky-Pudlak syndrome 6 A type of Hermansky-Pudlak syndrome that has material basis in homozygous or compound heterozygous mutation in the HPS6 gene on chromosome 10q24. url:http://omim.org/entry/614075 A type of Hermansky-Pudlak syndrome that has material basis in homozygous mutation in the DTNBP1 gene on chromosome 6p22.3. OMIM:614076 Hermansky-Pudlak syndrome 7 A type of Hermansky-Pudlak syndrome that has material basis in homozygous mutation in the DTNBP1 gene on chromosome 6p22.3. url:http://omim.org/entry/614076 A type of Hermansky-Pudlak syndrome that has material basis in homozygous mutation in the BLOC1S3 gene on chromosome 19q13. OMIM:614077 Hermansky-Pudlak syndrome 8 A type of Hermansky-Pudlak syndrome that has material basis in homozygous mutation in the BLOC1S3 gene on chromosome 19q13. url:http://omim.org/entry/614077 A type of Hermansky-Pudlak syndrome that has material basis in homozygous mutation in the gene encoding palladin (BLOC1S6) on chromosome 15q21. OMIM:614171 Hermansky-Pudlak syndrome 9 A type of Hermansky-Pudlak syndrome that has material basis in homozygous mutation in the gene encoding palladin (BLOC1S6) on chromosome 15q21. url:http://omim.org/entry/614171 EFO:0000306 breast tumor luminal luminal breast cancer Split to subtype A and B. luminal breast carcinoma A syndrome characterized by d by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). It is that has material basis in heterozygous mutation in the TWIST2 gene on chromosome 2q37. MESH:C537908 OMIM:209885 ORDO:1231 SNOMEDCT_US_2016_03_01:408537003 UMLS_CUI:C1319466 Barber-Say syndrome A syndrome characterized by d by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). It is that has material basis in heterozygous mutation in the TWIST2 gene on chromosome 2q37. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=27196381 url:https://rarediseases.info.nih.gov/gard/819/barber-say-syndrome/resources/1 A syndrome characterized by by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay. Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is that has material basis in heterozygous mutation in the TWIST2 gene on chromosome 2q37. MESH:C535557 OMIM:200110 ORDO:920 UMLS_CUI:C1860224 poikiloderma with neutropenia, Clericuzio type ablepharon macrostomia syndrome A syndrome characterized by by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay. Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is that has material basis in heterozygous mutation in the TWIST2 gene on chromosome 2q37. url:http://rarediseases.org/rare-diseases/ablepharon-macrostomia-syndrome/ url:http://www.ncbi.nlm.nih.gov/pubmed/?term=27196381 url:https://en.wikipedia.org/wiki/Ablepharon_macrostomia_syndrome A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections. It has material basis in mutation in the C16ORF57 gene on chromosome 16q13. ICD10CM:D82.8 OMIM:604173 ORDO:221046 poikiloderma with neutropenia A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections. It has material basis in mutation in the C16ORF57 gene on chromosome 16q13. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=20734427 A disease that is characterized by supranuclear gaze palsy, spasticity, and dementia and has_material_basis_in homozygous or compound heterozygous mutation in a lysosomal type 5 ATPase encoding gene (ATP13A2) on chromosome 1p36. MESH:C537177 OMIM:606693 ORDO:306674 UMLS_CUI:C1847640 autosomal recessive Parkinson disease 9 autosomal recessive juvenile onset Parkinson disease 9 DOID:0060556 Kufor-Rakeb syndrome A disease that is characterized by supranuclear gaze palsy, spasticity, and dementia and has_material_basis_in homozygous or compound heterozygous mutation in a lysosomal type 5 ATPase encoding gene (ATP13A2) on chromosome 1p36. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=15986421 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=23791710 OMIM:615217 ataxia-oculomotor apraxia 3 ataxia with oculomotor apraxia type 3 A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. ICD10CM:Q68.8 OMIM:PS253310 ORDO:294965 lethal congenital contracture syndrome A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=22610851 A lethal congenital contracture syndrome that has material basis in homozygous or compound heterozygous mutation in the mRNA export mediator GLE1 on chromosome 9q34. MESH:C537194 OMIM:253310 ORDO:1486 UMLS_CUI:C1854664 LCCS1 multiple contracture syndrome, Finnish type DOID:0060559 lethal congenital contracture syndrome 1 A lethal congenital contracture syndrome that has material basis in homozygous or compound heterozygous mutation in the mRNA export mediator GLE1 on chromosome 9q34. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=9683599 A lethal congenital contracture syndrome that can be that has material basis in homozygous mutation in the ERBB3 gene on chromosome 12q13. ICD10CM:Q68.8 MESH:C564369 OMIM:607598 ORDO:137783 LCCS2 multiple contracture syndrome, Israeli-Bedouin type DOID:0060560 lethal congenital contracture syndrome 2 A lethal congenital contracture syndrome that can be that has material basis in homozygous mutation in the ERBB3 gene on chromosome 12q13. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=15378541 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=17701904 A dilated cardiomyopathy that has_material_basis_in mutations in the DMD gene. MESH:C580047 DOID:0060561 DMD-related dilated cardiomyopathy A dilated cardiomyopathy that has_material_basis_in mutations in the DMD gene. https://ghr.nlm.nih.gov/condition/dmd-associated-dilated-cardiomyopathy A coronary artery anomaly in which the left coronary artery (LCA) branches off the pulmonary artery instead of the aortic sinus. MESH:D063748 ALCAPA Bland-White-Garland syndrome White-Garland syndrome anomalous left coronary artery from the pulmonary artery A coronary artery anomaly in which the left coronary artery (LCA) branches off the pulmonary artery instead of the aortic sinus. https://en.wikipedia.org/wiki/Anomalous_left_coronary_artery_from_the_pulmonary_artery A patent ductus arteriosus with facial dysmorphism and abnormal fifth digits. MESH:C566815 OMIM:169100 Char syndrome A patent ductus arteriosus with facial dysmorphism and abnormal fifth digits. OMIM:169100 spinal disease A syndrome by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies. ICD10CM:Q87.8 MESH:C535313 OMIM:PS220210 ORDO:7 UMLS_CUI:C0796137 3C syndrome CCC dysplasia craniocerebellocardiac dysplasia DOID:0060565 Ritscher-Schinzel syndrome A syndrome by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies. ORDO:7 https://en.wikipedia.org/wiki/3C_syndrome A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects. ICD10CM:Q87.8 MESH:C535327 OMIM:236110 UMLS_CUI:C1856095 Holzgreve Wagner Rehder Syndrome Holzgreve syndrome Holzgreve-Wagner-Rehder Syndrome ORDO:2167 A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=3232694 A vasculitis characterised by red, purple, brown or yellow papules (raised spot), plaques, or nodules, found on the backs of the hands, other extensor surfaces overlying joints, and on the buttocks. ICD10CM:L95.1 MESH:C535509 ORDO:90000 UMLS_CUI:C0263398 erythema elevatum diutinum A vasculitis characterised by red, purple, brown or yellow papules (raised spot), plaques, or nodules, found on the backs of the hands, other extensor surfaces overlying joints, and on the buttocks. http://www.dermnetnz.org/vascular/erythema-elevatum-diutinum.html An osteochondrodysplasia characterized by congenital hypertrichosis, neonatal macrosomia, and cardiomegaly. MESH:C535572 OMIM:239850 Cantu syndrome hypertrichotic osteochondrodysplasia Cantu type MESH:D014381 cardiovascular tuberculosis cardiac tuberculosis A Ritscher-Schinzel syndrome that has_material_basis_in homozygous mutation in the KIAA0196 gene on chromosome 8q24. OMIM:220210 ORDO:7 DOID:0060571 Ritscher-Schinzel syndrome 1 A Ritscher-Schinzel syndrome that has_material_basis_in homozygous mutation in the KIAA0196 gene on chromosome 8q24. url:https://www.ncbi.nlm.nih.gov/pubmed/24065355 A Ritscher-Schinzel syndrome that has_material_basis_in mutation in the CCDC22 gene on chromosome Xp11. OMIM:300963 ORDO:7 DOID:0060572 Ritscher-Schinzel syndrome 2 A Ritscher-Schinzel syndrome that has_material_basis_in mutation in the CCDC22 gene on chromosome Xp11. url:https://www.ncbi.nlm.nih.gov/pubmed/24916641 A von Willebrand's disease characterized by quantitative partial deficiency of circulating VWF that has material_basis_in heterozygous mutation in the VWF gene on chromosome 12p13. ICD10CM:D68.0 MESH:D056725 OMIM:193400 UMLS_CUI: C1264039 VWD type 1 VWD1 von Willebrand disease type 1 von Willebrand disease type I DOID:0060573 von Willebrand's disease 1 A von Willebrand's disease characterized by quantitative partial deficiency of circulating VWF that has material_basis_in heterozygous mutation in the VWF gene on chromosome 12p13. url:https://www.ncbi.nlm.nih.gov/pubmed/16889557 url:https://www.ncbi.nlm.nih.gov/pubmed/8456432 A von Willebrand's disease characterized by qualitative but not quantitative abnormalities of the VWF protein that has material_basis_in mutation in the VWF gene which maps to chromosome 12p13. MESH:D056728 OMIM:613554 ORDO:166081 UMLS_CUI:C1264040 VWD type 2 VWD2 von Willebrand disease type 2 von Willebrand disease type II DOID:0060574 von Willebrand's disease 2 A von Willebrand's disease characterized by qualitative but not quantitative abnormalities of the VWF protein that has material_basis_in mutation in the VWF gene which maps to chromosome 12p13. url:https://www.ncbi.nlm.nih.gov/pubmed/20409624 A type of 3MC syndrome which is that has material basis in homozygous mutation in the MASP1 gene on chromosome 3q27. OMIM:257920 3MC syndrome 1 A type of 3MC syndrome which is that has material basis in homozygous mutation in the COLEC11 gene on chromosome 2p25. OMIM:265050 3MC syndrome 2 OMIM:248340 3MC syndrome 3 A Noonan syndrome disease type 1 that has material basis in the PTPN11 gene on chromosome 12q24. OMIM:163950 NS1 Noonan syndrome 1 A Noonan syndrome disease type 1 that has material basis in the PTPN11 gene on chromosome 12q24. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=18203203 A Noonan syndrome that has_material_basis_in an autosomal recessive mutation. OMIM:605275 NS2 DOID:0060580 Noonan syndrome 2 A Noonan syndrome that has_material_basis_in an autosomal recessive mutation. url:https://www.ncbi.nlm.nih.gov/pubmed/5782826 A Noonan syndrome that has_material_basis_in heterozygous mutation in the KRAS gene. OMIM:609942 NS3 DOID:0060581 Noonan syndrome 3 A Noonan syndrome that has_material_basis_in heterozygous mutation in the KRAS gene. url:https://www.ncbi.nlm.nih.gov/pubmed/16474405 A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS1 gene on chromosome 2p22. OMIM:610733 NS4 DOID:0060582 Noonan syndrome 4 A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS1 gene on chromosome 2p22. url:https://www.ncbi.nlm.nih.gov/pubmed/19438935 A Noonan syndrome that has_material_basis_in mutation in the RAF1 gene. OMIM:611553 NS5 DOID:0060583 Noonan syndrome 5 A Noonan syndrome that has_material_basis_in mutation in the RAF1 gene. url:https://www.ncbi.nlm.nih.gov/pubmed/17603483 A Noonan syndrome that has_material_basis in heterozygous mutation in the NRAS gene on chromosome 1p13. OMIM:613224 NS6 DOID:0060584 Noonan syndrome 6 A Noonan syndrome that has_material_basis in heterozygous mutation in the NRAS gene on chromosome 1p13. url:https://www.ncbi.nlm.nih.gov/pubmed/19966803 A Noonan syndrome that has_material_basis in heterozygous mutation in the BRAF gene. OMIM:613706 NS7 DOID:0060585 Noonan syndrome 7 A Noonan syndrome that has_material_basis in heterozygous mutation in the BRAF gene. url:https://www.ncbi.nlm.nih.gov/pubmed/19206169 A Noonan syndrome that has_material_basis_in aused by heterozygous mutation in the RIT1 gene on chromosome 1q22. OMIM:615355 NS8 DOID:0060586 Noonan syndrome 8 A Noonan syndrome that has_material_basis_in aused by heterozygous mutation in the RIT1 gene on chromosome 1q22. url:https://www.ncbi.nlm.nih.gov/pubmed/24939608 url:https://www.ncbi.nlm.nih.gov/pubmed/25124994 A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS2 gene on chromosome 14q21. OMIM:616559 NS9 DOID:0060587 Noonan syndrome 9 A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS2 gene on chromosome 14q21. url:https://www.ncbi.nlm.nih.gov/pubmed/25795793 A Noonan syndrome that has_material_basis_in heterozygous mutation in the LZTR1 gene on chromosome 22q11. OMIM:616564 NS10 DOID:0060588 Noonan syndrome 10 A Noonan syndrome that has_material_basis_in heterozygous mutation in the LZTR1 gene on chromosome 22q11. url:https://www.ncbi.nlm.nih.gov/pubmed/25795793 A syndrome characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. It is usually lethal in infancy and has material basis in homozygous or compound heterozygous mutation in the FIG4 gene on chromosome 6q21. ICD10CM:Q87.8 MESH:C536719 OMIM:216340 UMLS_CUI:C1857663 cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia cleidocranial dysplasia-micrognathia-absent thumbs syndrome Yunis-Varon syndrome A syndrome characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. It is usually lethal in infancy and has material basis in homozygous or compound heterozygous mutation in the FIG4 gene on chromosome 6q21. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=23623387 A syndrome characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly. Additional features include sun-sensitivity from birth, learning disabilities, hearing loss, and visual impairment. It has material basis in homozygous mutation in the ERCC4 gene on chromosome 16p13. MESH:C567043 OMIM:610965 XFEPS XPF-ERCC1 progeroid syndrome XFE progeroid syndrome A syndrome characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly. Additional features include sun-sensitivity from birth, learning disabilities, hearing loss, and visual impairment. It has material basis in homozygous mutation in the ERCC4 gene on chromosome 16p13. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=17183314 An immunodeficiency disease characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus (HPV) infection. It has material basis in heterozygous mutation in the CXCR4 gene on chromosome 2q22. ICD10CM:D81.8 MESH:C536697 OMIM:193670 UMLS_CUI:C0472817 WHIMS warts, hypogammaglobulinemia, infections, and myelokathexis warts-hypogammaglobulinemia-infections-myelokathexis syndrome WHIM syndrome An immunodeficiency disease characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus (HPV) infection. It has material basis in heterozygous mutation in the CXCR4 gene on chromosome 2q22. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=10767001 url:https://en.wikipedia.org/wiki/WHIM_syndrome NCI:C9143 adult B acute lymphoblastic leukemia adult B-lymphoblastic leukemia adult b-cell acute lymphoblastic leukemia adult b-cell lymphocytic leukemia B-cell adult acute lymphocytic leukemia A myelodysplastic myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene. ICD10CM:C92.2 MESH:D054438 NCI:C3519 ORDO:98824 UMLS_CUI:C0349640 aCML atypical CML atypical chronic myeloid leukemia BCR-ABL1 negative subacute granulocytic leukemia subacute myelogenous leukemia subacute myeloid leukemia DOID:0060597 atypical chronic myeloid leukemia A myelodysplastic myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=127069254 url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.08e&ns=NCI_Thesaurus&code=C3519 An X-linked disease that has_material_basis_in mutation in the NHS gene on chromosome Xp22. It is characterized by congenital cataract leading to profound vision loss, characteristic dysmorphic features and dental anomalies. ICD10CM:Q87.0 MESH:C538336 OMIM:302350 ORDO:627 UMLS_CUI:C0796085 DOID:0060599 Nance-Horan syndrome An X-linked disease that has_material_basis_in mutation in the NHS gene on chromosome Xp22. It is characterized by congenital cataract leading to profound vision loss, characteristic dysmorphic features and dental anomalies. url:https://en.wikipedia.org/wiki/Nance-Horan_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/2246772 url:https://www.ncbi.nlm.nih.gov/pubmed/6467651 A neuropathy that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A6 gene on chromosome 15q14. It is an autosomal recessive disease of early onset characterized by a delay in developmental milestones, a severe sensory-motor polyneuropathy with areflexia, a variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment. ICD10CM:G60.0 MESH:C536446 OMIM:218000 ORDO:1496 UMLS_CUI:C0795950 Andermann syndrome Charlevoix disease agenesis of the corpus callosum with peripheral neuropathy corpus callosum agenesis-neuronopathy syndrome peripheral neuropathy associated with agenesis of the corpus callosum DOID:0060600 hereditary motor and sensory neuropathy with agenesis of the corpus callosum A neuropathy that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A6 gene on chromosome 15q14. It is an autosomal recessive disease of early onset characterized by a delay in developmental milestones, a severe sensory-motor polyneuropathy with areflexia, a variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment. url:https://www.ncbi.nlm.nih.gov/books/NBK1372/ url:https://www.ncbi.nlm.nih.gov/pubmed/12838516 A hemorrhagic disease that has_material_basis_in mutation in the PLI gene. It is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes. ICD10CM:D68.8 OMIM:262850 ORDO:79 antiplasmin defiency plasmin inhibitor deficiency DOID:0060601 alpha-2-plasmin inhibitor deficiency A hemorrhagic disease that has_material_basis_in mutation in the PLI gene. It is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes. url:https://www.ncbi.nlm.nih.gov/pubmed/11472338 url:https://www.ncbi.nlm.nih.gov/pubmed/156196 A peroxisomal disease that has_material_basis in homozygous mutation in the AMACR gene on chromosome 5p13.2-q11.1. It is characterized by retinitis pigmentosa resulting in progressive visual failure, learning difficulties, a peripheral neuropathy, and hypogonadism. OMIM:614307 AMACR deficiency DOID:0060602 alpha-methylacyl-CoA racemase deficiency A peroxisomal disease that has_material_basis in homozygous mutation in the AMACR gene on chromosome 5p13.2-q11.1. It is characterized by retinitis pigmentosa resulting in progressive visual failure, learning difficulties, a peripheral neuropathy, and hypogonadism. url:https://www.ncbi.nlm.nih.gov/pubmed/11861706 An anhidrosis that has_material_basis in homozygous mutation in the ITPR2 gene on chromosome 12p11. OMIM:106190 Dann-Epstein-Sohar syndrome DOID:0060603 isolated anhidrosis with normal sweat glands An anhidrosis that has_material_basis in homozygous mutation in the ITPR2 gene on chromosome 12p11. url:https://www.ncbi.nlm.nih.gov/pubmed/2401610 A tongue disease characterized by an unusually short, thick lingual frenulum, a membrane connecting the underside of the tongue to the floor of the mouth. ICD10CM:Q38.1 MESH:C562396 OMIM:106280 tongue-tie DOID:0060604 ankyloglossia A tongue disease characterized by an unusually short, thick lingual frenulum, a membrane connecting the underside of the tongue to the floor of the mouth. url:https://en.wikipedia.org/wiki/Ankyloglossia url:https://www.ncbi.nlm.nih.gov/pubmed/18983637 url:https://www.ncbi.nlm.nih.gov/pubmed/5251442 ICD10CM:Q13.8 OMIM:107250 ORDO:88632 DOID:0060605 anterior segment mesenchymal dysgenesis A specific developmental disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of nicotine during pregnancy. DOID:0060606 fetal nicotine spectrum disorder A specific developmental disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of nicotine during pregnancy. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2905398/ url:http://www.ncbi.nlm.nih.gov/pubmed/20363831 A microcephalic osteodysplastic primordial dwarfism that has_material_basis_in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA (snRNA) component of the U12-dependent (minor) spliceosome, on chromosome 2q14.2. It is characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular, auditory sensory deficits. ICD10CM:Q87.1 OMIM:210710 ORDO:2636 Taybi-Linder syndrome brachymelic primordial dwarfism cephaloskeletal dysplasia low-birth-weight dwarfism with skeletal dysplasia osteodysplastic primordial dwarfism type I DOID:0060608 microcephalic osteodysplastic primordial dwarfism type I A microcephalic osteodysplastic primordial dwarfism that has_material_basis_in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA (snRNA) component of the U12-dependent (minor) spliceosome, on chromosome 2q14.2. It is characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular, auditory sensory deficits. url:http://omim.org/entry/210710 url:https://www.ncbi.nlm.nih.gov/pubmed/22302400 A microcephalic osteodysplastic primordial dwarfism that has_material_basis_in homozygous or compound heterozygous mutation in the PCNT gene, encoding pericentrin, on chromosome 21q22. It is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly. ICD10CM:Q87.1 OMIM:210720 ORDO:2637 Majewski osteodysplastic primordial dwarfism type II osteodysplastic primordial dwarfism type II DOID:0060609 microcephalic osteodysplastic primordial dwarfism type II A microcephalic osteodysplastic primordial dwarfism that has_material_basis_in homozygous or compound heterozygous mutation in the PCNT gene, encoding pericentrin, on chromosome 21q22. It is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly. url:http://omim.org/entry/210720 url:https://www.ncbi.nlm.nih.gov/pubmed/7551160 A syndrome that is characterized by marked dilatation of the bladder and microcolon and decreased intestinal peristalsis. ICD10CM:Q43.8 MESH:C536138 OMIM:155310 ORDO:2241 UMLS_CUI:C1608393 Berdon syndrome visceral myopathy DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome A syndrome that is characterized by marked dilatation of the bladder and microcolon and decreased intestinal peristalsis. url:http://www.ncbi.nlm.nih.gov/pubmed/21792650 url:http://www.ncbi.nlm.nih.gov/pubmed/25407000 url:https://en.wikipedia.org/wiki/Berdon_syndrome url:https://rarediseases.info.nih.gov/diseases/3442/megacystis-microcolon-intestinal-hypoperistalsis-syndrome OMIM:PS605552 DOID:0060611 abdominal obesity-metabolic syndrome An abdominal obesity-metabolic syndrome that has_material_basis_in heterozygous mutation in the DYRK1B gene on chromosome 19q13. OMIM:615812 DOID:0060612 abdominal obesity-metabolic syndrome 3 An abdominal obesity-metabolic syndrome that has_material_basis_in heterozygous mutation in the DYRK1B gene on chromosome 19q13. url:http://omim.org/entry/615812 url:https://www.ncbi.nlm.nih.gov/pubmed/24827035 A cleft palate that has_material_basis in mutation in the TBX22 gene on chromosome Xq21. OMIM:303400 ORDO:324601 X-linked cleft palate and ankyloglossia DOID:0060613 X-linked cleft palate with or without ankyloglossia A cleft palate that has_material_basis in mutation in the TBX22 gene on chromosome Xq21. url:https://www.ncbi.nlm.nih.gov/pubmed/14729838 X-linked cleft palate and ankyloglossia ORDO:324601 A syndrome that has_material_basis_in heterozygous mutation in the TBX3 gene. It is characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and, or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies. ICD10CM:Q71.8 MESH:C536937 OMIM:181450 ORDO:3138 UMLS_CUI:C1866994 Pallister ulnar-mammary syndrome Schinzel syndrome DOID:0060614 ulnar-mammary syndrome A syndrome that has_material_basis_in heterozygous mutation in the TBX3 gene. It is characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and, or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies. url:https://www.ncbi.nlm.nih.gov/pubmed/8595424 url:https://www.ncbi.nlm.nih.gov/pubmed/8923944 A neonatal diabetes mellitus characterized by intrauterine growth retardation, hypothyroidism and onset of nonimmune diabetes mellitus within the first few weeks of life; it has_material_basis_in homozygous or compound heterozygous mutations in the GLIS3 gene on chromosome 9p24. OMIM:610199 ORDO:79118 NDH syndrome DOID:0060638 neonatal diabetes mellitus with congenital hypothyroidism A neonatal diabetes mellitus characterized by intrauterine growth retardation, hypothyroidism and onset of nonimmune diabetes mellitus within the first few weeks of life; it has_material_basis_in homozygous or compound heterozygous mutations in the GLIS3 gene on chromosome 9p24. url:https://www.ncbi.nlm.nih.gov/pubmed/16715098 A neonatal diabetes mellitus that has_material_basis_in homozygous mutation in the glucokinase gene (GCK), heterozygous mutation in the KCNJ11 and INS genes, or by heterozygous or homozygous mutation in the ABCC8 gene. OMIM:606176 PDMI PNDM permanent diabetes mellitus of infancy DOID:0060639 permanent neonatal diabetes mellitus A neonatal diabetes mellitus that has_material_basis_in homozygous mutation in the glucokinase gene (GCK), heterozygous mutation in the KCNJ11 and INS genes, or by heterozygous or homozygous mutation in the ABCC8 gene. url:https://www.ncbi.nlm.nih.gov/pubmed/17213273 A mitochondrial metabolism disease that is characterized by neurodevelopmental delay and regression, prominent pyramidal and extrapyramidal signs, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea; it has_material_basis_in homozygous or compound heterozygous mutation in the ETHE1 gene, which encodes a mitochondrial matrix protein, on chromosome 19q13. ICD10CM:G31.8 MESH:C535737 OMIM:602473 ORDO:51188 UMLS_CUI:C1865349 DOID:0060640 ethylmalonic encephalopathy A mitochondrial metabolism disease that is characterized by neurodevelopmental delay and regression, prominent pyramidal and extrapyramidal signs, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea; it has_material_basis_in homozygous or compound heterozygous mutation in the ETHE1 gene, which encodes a mitochondrial matrix protein, on chromosome 19q13. url:https://en.wikipedia.org/wiki/Ethylmalonic_encephalopathy url:https://ghr.nlm.nih.gov/condition/ethylmalonic-encephalopathy url:https://www.ncbi.nlm.nih.gov/pubmed/20528888 A syndrome that is characterized by multiple congenital defects in endocrine, cerebral, and skeletal systems leading to neonatal mortality; it has_material_basis_in mutation in the gene encoding intestinal cell kinase (ICK). ICD10CM:Q87.8 OMIM:612651 ORDO:199332 ECO syndrome DOID:0060641 endocrine-cerebro-osteodysplasia syndrome A syndrome that is characterized by multiple congenital defects in endocrine, cerebral, and skeletal systems leading to neonatal mortality; it has_material_basis_in mutation in the gene encoding intestinal cell kinase (ICK). url:https://www.ncbi.nlm.nih.gov/pubmed/19185282 url:https://www.ncbi.nlm.nih.gov/pubmed/24853502 An epidermolysis bullosa dystrophica characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane; it has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding type VII collagen (COL7A1) on chromosome 3p21. ICD10CM:Q81.2 OMIM:226600 ORDO:79408 RDEB, Hallopeau-Siemens type autosomal recessive dystrophic epidermolysis bullosa generalisata gravis autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type severe generalized RDEB severe generalized recessive dystrophic epidermolysis bullosa DOID:0060642 recessive dystrophic epidermolysis bullosa An epidermolysis bullosa dystrophica characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane; it has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding type VII collagen (COL7A1) on chromosome 3p21. url:https://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa url:https://www.ncbi.nlm.nih.gov/pubmed/3307723 url:https://www.ncbi.nlm.nih.gov/pubmed/8513326 A sclerosing cholangitis characterized by fibroobliterative inflammation of the biliary tract, leading to cirrhosis and portal hypertension. ICD10CM:K83.0 OMIM:613806 ORDO:171 UMLS_CUI:C0566602 DOID:0060643 primary sclerosing cholangitis A sclerosing cholangitis characterized by fibroobliterative inflammation of the biliary tract, leading to cirrhosis and portal hypertension. url:https://www.ncbi.nlm.nih.gov/pubmed/7877651 A syndrome characterized by the clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalized chondrodysplasia. ICD10CM:Q87.1 OMIM:600092 ORDO:1422 UMLS_CUI:C1838654 Nivelon-Nivelon-Mabille syndrome chondrodysplasia-disorder of sex development syndrome DOID:0060644 chondrodysplasia-pseudohermaphroditism syndrome A syndrome characterized by the clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalized chondrodysplasia. url:https://www.ncbi.nlm.nih.gov/pubmed/1342874 An osteomyelitis characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine. ICD10CM:M86.3 ORDO:324964 CRMO chronic multifocal osteomyelitis DOID:0060645 chronic recurrent multifocal osteomyelitis An osteomyelitis characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine. url:https://en.wikipedia.org/wiki/Chronic_recurrent_multifocal_osteomyelitis url:https://www.ncbi.nlm.nih.gov/pubmed/11973628 url:https://www.ncbi.nlm.nih.gov/pubmed/4403064 A pleural disease characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. OMIM:603523 ORDO:264688 DOID:0060646 congenital chylothorax A pleural disease characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. url:https://en.wikipedia.org/wiki/Chylothorax url:https://www.ncbi.nlm.nih.gov/pubmed/416049 A syndrome that has_material_basis_in homozygous mutation in the CHUK gene on chromosome 10q24 and is characterized by multiple fetal malformations including defective face and seemingly absent limbs, which are bound to the trunk and encased under the skin. OMIM:613630 fetal encasement syndrome DOID:0060647 cocoon syndrome A syndrome that has_material_basis_in homozygous mutation in the CHUK gene on chromosome 10q24 and is characterized by multiple fetal malformations including defective face and seemingly absent limbs, which are bound to the trunk and encased under the skin. url:https://www.ncbi.nlm.nih.gov/pubmed/20961246 A sclerocornea that has_material_basis_in homozygous or compound heterozygous mutation in the PXDN gene on chromosome 2p25 and is characterized by corneal opacifiaction, cataract, microcornea, microphthalmia, and anterior segment dysgenesis. sclerocornea with other ocular anomalies DOID:0060648 corneal opacification and other ocular anomalies A sclerocornea that has_material_basis_in homozygous or compound heterozygous mutation in the PXDN gene on chromosome 2p25 and is characterized by corneal opacifiaction, cataract, microcornea, microphthalmia, and anterior segment dysgenesis. url:https://www.ncbi.nlm.nih.gov/pubmed/17914436 A corneal endothelial dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the SLC4A11 gene, which encodes a sodium borate cotransporter, on chromosome 20p13 and is characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane. OMIM:217700 CHED DOID:0060649 congenital hereditary endothelial dystrophy of cornea A corneal endothelial dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the SLC4A11 gene, which encodes a sodium borate cotransporter, on chromosome 20p13 and is characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane. url:https://www.ncbi.nlm.nih.gov/pubmed/16767101 ICD10CM:E72.0 MESH:C536171 OMIM:222730 ORDO:2195 UMLS_CUI:C1857253 glutamate-aspartate transport defect DOID:0060650 dicarboxylic aminoaciduria A blood platelet disease that has_material_basis_in mutations in the MYH9 gene. It is characterized by thrombocytopenia, enlarged platelets, sensorineural hearing loss and presenile cataract. ICD10CM:D69.4 OMIM:153640 OMIM:153650 OMIM:155100 OMIM:605249 ORDO:182050 DOID:0060651 MYH-9 related disease A blood platelet disease that has_material_basis_in mutations in the MYH9 gene. It is characterized by thrombocytopenia, enlarged platelets, sensorineural hearing loss and presenile cataract. url:https://ghr.nlm.nih.gov/condition/myh9-related-disorder url:https://www.ncbi.nlm.nih.gov/pubmed/21567368 A primary polycythemia that has_material_basis_in mutation in the gene encoding the erythropoietin receptor. It is characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low serum levels of EPO. ICD10CM:D75.0 OMIM:133100 ORDO:90042 autosomal dominant benign erythrocytosis primary familial and congenital polycythemia DOID:0060652 familial erythrocytosis 1 A primary polycythemia that has_material_basis_in mutation in the gene encoding the erythropoietin receptor. It is characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low serum levels of EPO. url:https://www.ncbi.nlm.nih.gov/pubmed/9292543 A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the PIP5K1C gene on chromosome 19p13. ICD10CM:Q68.8 ORDO:137783 Israeli Bedouin type B multiple contracture syndrome DOID:0060653 lethal congenital contracture syndrome 3 A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the PIP5K1C gene on chromosome 19p13. url:https://www.ncbi.nlm.nih.gov/pubmed/17701898 A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the MYBPC1 gene on chromosome 12q23. DOID:0060654 lethal congenital contracture syndrome 4 A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the MYBPC1 gene on chromosome 12q23. url:https://www.ncbi.nlm.nih.gov/pubmed/22610851 A skin disease that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization. OMIM:PS242300 ORDO:281097 ARCI DOID:0060655 autosomal recessive congenital ichthyosis A skin disease that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization. url:https://www.ncbi.nlm.nih.gov/books/NBK1420/ url:https://www.ncbi.nlm.nih.gov/pubmed/20643494 An autosomal recessive congenital ichthyosis characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the TGM1 gene on chromosome 14q11.2. ICD10CM:Q80.2 OMIM:242300 ORDO:100976 ORDO:281122 ORDO:313 ARCI1 bathing suit ichthyosis DOID:0060656 autosomal recessive congenital ichthyosis 1 An autosomal recessive congenital ichthyosis characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the TGM1 gene on chromosome 14q11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/7824952 A congenital nervous system abnormality characterized by failure of the anterior neuropore to close resulting in partial or complete absence of the cranial vault accompanied by absence of overlying tissues, including the brain and cerebral hemispheres, skull and scalp. ICD10CM:00.0 OMIM:206500 ORDO:1048 DOID:0060668 anencephaly A congenital nervous system abnormality characterized by failure of the anterior neuropore to close resulting in partial or complete absence of the cranial vault accompanied by absence of overlying tissues, including the brain and cerebral hemispheres, skull and scalp. url:https://en.wikipedia.org/wiki/Anencephaly url:https://ghr.nlm.nih.gov/condition/anencephaly A vascular anomaly of the central nervous system characterized by dilated blood-filled capillaries lacking structural support. CCM cavernous angiomatous malformations cerebral capillary malformations familial cavernous angioma DOID:0060669 cerebral cavernous malformation A vascular anomaly of the central nervous system characterized by dilated blood-filled capillaries lacking structural support. url:http://hmg.oxfordjournals.org/content/18/5/919.long url:https://ghr.nlm.nih.gov/condition/cerebral-cavernous-malformation A cerebral cavernous malformation that_has_material_basis in mutation in the CCM2 gene on chromosome 7p13. ICD10CM:Q28.3 OMIM:603284 ORDO:221061 CCM2 DOID:0060670 cerebral cavernous malformation 2 A cerebral cavernous malformation that_has_material_basis in mutation in the CCM2 gene on chromosome 7p13. url:https://www.ncbi.nlm.nih.gov/pubmed/14624391 A cerebral cavernous malformation that_has_material_basis in mutation in the PDCD10 gene on chromosome 3q26.1. ICD10CM:Q28.3 ORDO:221061 CCM3 DOID:0060671 cerebral cavernous malformation 3 A cerebral cavernous malformation that_has_material_basis in mutation in the PDCD10 gene on chromosome 3q26.1. url:https://www.ncbi.nlm.nih.gov/pubmed/15543491 A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has_material_basis_in mutation in the GRN gene on chromosome 17q21.31. ICD10CM:G31.0 OMIM:607485 ORDO:282 DOID:0060672 Grn-related frontotemporal lobar degeneration with Tdp43 inclusions A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has_material_basis_in mutation in the GRN gene on chromosome 17q21.31. url:https://www.ncbi.nlm.nih.gov/pubmed/16862116 url:https://www.ncbi.nlm.nih.gov/pubmed/16983677 A corneal disease characterized by a central corneal leukoma and absence of the posterior corneal stroma and Descemet membrane that has_material_basis_in mutation in the PAX6 gene on chromosome 11p13, the PITX2 gene on chromosome 4q25, the CYP1B1 gene on chromosome 2p22.2, or the FOXC1 gene on chromosome 6p25.3. ICD10CM:Q13.4 MESH:C537884 OMIM:604229 ORDO:708 DOID:0060673 Peters anomaly A corneal disease characterized by a central corneal leukoma and absence of the posterior corneal stroma and Descemet membrane that has_material_basis_in mutation in the PAX6 gene on chromosome 11p13, the PITX2 gene on chromosome 4q25, the CYP1B1 gene on chromosome 2p22.2, or the FOXC1 gene on chromosome 6p25.3. url:https://www.ncbi.nlm.nih.gov/pubmed/11403040 url:https://www.ncbi.nlm.nih.gov/pubmed/12614756 url:https://www.ncbi.nlm.nih.gov/pubmed/8162071 A heart conduction disease characterized by adrenergically induced ventricular tachycardia manifesting as syncope and sudden death during exercise, stress or catecholamine infusion without the presence of structural cardiac abnormalities. ICD10CM:I47.2 OMIM:PS604772 ORDO:3286 DOID:0060674 catecholaminergic polymorphic ventricular tachycardia A heart conduction disease characterized by adrenergically induced ventricular tachycardia manifesting as syncope and sudden death during exercise, stress or catecholamine infusion without the presence of structural cardiac abnormalities. url:https://www.ncbi.nlm.nih.gov/books/NBK1289 url:https://www.ncbi.nlm.nih.gov/pubmed/17875969 A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the RYR2 gene on chromosome 1q43. ICD10CM:I47.2 OMIM:604772 CVPT1 DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the RYR2 gene on chromosome 1q43. url:https://www.ncbi.nlm.nih.gov/pubmed/12093772 url:https://www.ncbi.nlm.nih.gov/pubmed/17875969 A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal recessive inheritance and has_material_basis_in homozygous or compound heterozygous mutation in the CASQ2 gene on chromosome 1p13 ICD10CM:I47.2 OMIM:611938 CVPT2 DOID:0060676 catecholaminergic polymorphic ventricular tachycardia 2 A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal recessive inheritance and has_material_basis_in homozygous or compound heterozygous mutation in the CASQ2 gene on chromosome 1p13 url:https://www.ncbi.nlm.nih.gov/pubmed/11401939 A catecholaminergic polymorphic ventricular tachycardia that is characterized by early onset mortality and has_material_basis_in variation in the chromosomal region 7p22-p14. ICD10CM:I47.2 OMIM:614021 CVPT3 DOID:0060677 catecholaminergic polymorphic ventricular tachycardia 3 A catecholaminergic polymorphic ventricular tachycardia that is characterized by early onset mortality and has_material_basis_in variation in the chromosomal region 7p22-p14. url:https://www.ncbi.nlm.nih.gov/pubmed/17666061 A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the CALM1 gene on chromosome 14q32. ICD10CM:I47.2 OMIM:614916 CVPT4 DOID:0060678 catecholaminergic polymorphic ventricular tachycardia 4 A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the CALM1 gene on chromosome 14q32. url:https://www.ncbi.nlm.nih.gov/pubmed/23040497 A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal recessive inheritance and has_material_basis_in homozygous or compound heterozygous mutation in the TRDN gene on chromosome 6q22. ICD10CM:I47.2 OMIM:615441 CVPT5 DOID:0060679 catecholaminergic polymorphic ventricular tachycardia 5 A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal recessive inheritance and has_material_basis_in homozygous or compound heterozygous mutation in the TRDN gene on chromosome 6q22. url:https://www.ncbi.nlm.nih.gov/pubmed/22422768 An eye disease characterized by slit-like depigmented areas of the iris with up to 50% of patients going on to develop gluacoma. MESH:C563184 OMIM:600510 glaucoma-related pigment dispersion syndrome pigment-dispersion type glaucoma DOID:0060680 pigment dispersion syndrome An eye disease characterized by slit-like depigmented areas of the iris with up to 50% of patients going on to develop gluacoma. url:https://www.ncbi.nlm.nih.gov/pubmed/10192392 url:https://www.ncbi.nlm.nih.gov/pubmed/3947295 A frontal lobe epilepsy that is characterized by autosomal dominant inheritance with childhood onset of clusters of brief nocturnal motor seizures with hyperkinetic or tonic manifestations. OMIM:PS600513 ORDO:98784 ENFL DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy A frontal lobe epilepsy that is characterized by autosomal dominant inheritance with childhood onset of clusters of brief nocturnal motor seizures with hyperkinetic or tonic manifestations. url:https://www.ncbi.nlm.nih.gov/pubmed/7895015 An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA4 gene on chromosome 20q13. OMIM:600513 ENFL1 nocturnal frontal lobe epilepsy 1 DOID:0060682 autosomal dominant nocturnal frontal lobe epilepsy 1 An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA4 gene on chromosome 20q13. url:https://www.ncbi.nlm.nih.gov/pubmed/7550350 An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in variation in the chromosome region 15q24. OMIM:603204 ENFL2 nocturnal frontal lobe epilepsy 2 DOID:0060683 autosomal dominant nocturnal frontal lobe epilepsy 2 An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in variation in the chromosome region 15q24. url:https://www.ncbi.nlm.nih.gov/pubmed/9758605 An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNB2 gene on chromosome 1q21. OMIM:605375 ENFL3 nocturnal frontal lobe epilepsy 3 DOID:0060684 autosomal dominant nocturnal frontal lobe epilepsy 3 An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNB2 gene on chromosome 1q21. url:https://www.ncbi.nlm.nih.gov/pubmed/11062464 An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA2 gene on chromosome 8p21. OMIM:610353 ENFL4 nocturnal frontal lobe epilepsy 4 DOID:0060685 autosomal dominant nocturnal frontal lobe epilepsy 4 An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA2 gene on chromosome 8p21. url:https://www.ncbi.nlm.nih.gov/pubmed/16826524 An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34. OMIM:615005 ENFL5 nocturnal frontal lobe epilepsy 5 DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34. url:https://www.ncbi.nlm.nih.gov/pubmed/23086396 An arteriovenous malformation that is located_in the brain. ICD10CM:Q28.2 MESH:D002538 OMIM:108010 ORDO:46724 UMLS_CUI:C0007772 cerebral arteriovenous malformation intracranial arteriovenous malformation DOID:0060688 arteriovenous malformations of the brain An arteriovenous malformation that is located_in the brain. url:https://www.ncbi.nlm.nih.gov/pubmed/7193302 An alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body followed by development of papular lesions all over the body that has_material_basis_in mutations in the HR gene on chromosome 8p21.3. ICD10CM:L65.8 OMIM:209500 ORDO:86819 APL papular atrichia DOID:0060689 atrichia with papular lesions An alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body followed by development of papular lesions all over the body that has_material_basis_in mutations in the HR gene on chromosome 8p21.3. url:https://www.ncbi.nlm.nih.gov/pubmed/10205263 An autosomal dominant nonsyndromic deafness characterized by preservation of outer hair cell function and abnormal or absent auditory brainstem responses that has_material_basis_in heterozygous mutation in the DIAPH3 gene on chromosome 13q. ICD10CM:H90.3 OMIM:609129 AUNA1 NSDAN nonsyndromic dominant auditory neuropathy DOID:0060690 autosomal dominant auditory neuropathy 1 An autosomal dominant nonsyndromic deafness characterized by preservation of outer hair cell function and abnormal or absent auditory brainstem responses that has_material_basis_in heterozygous mutation in the DIAPH3 gene on chromosome 13q. url:https://www.ncbi.nlm.nih.gov/pubmed/15520414 url:https://www.ncbi.nlm.nih.gov/pubmed/20624953 An inherited blood coagulation disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has_material_basis_in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32. ICD10CM:D69.4 OMIM:187800 ORDO:140957 autosomal dominant Glanzmann thrombasthenia autosomal dominant thrombasthenia of Glanzmann and Naegeli DOID:0060691 platelet-type bleeding disorder 16 An inherited blood coagulation disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has_material_basis_in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32. url:https://www.ncbi.nlm.nih.gov/pubmed/18065693 url:https://www.ncbi.nlm.nih.gov/pubmed/21454453 url:https://www.ncbi.nlm.nih.gov/pubmed/9834222 An inherited blood coagulation disease characterized by mild to moderate mucocutaneous bleeding and absence of adenosine phosphate induced platelet aggregation that has_material_basis_in homozygous or compound heterozygous mutation in the P2RY12 gene on chromosome 3q. ICD10CM:D69.8 OMIM:609821 ORDO:36355 ADP platelet receptor P2Y12 defect P2Y12 defect DOID:0060692 platelet-type bleeding disorder 8 An inherited blood coagulation disease characterized by mild to moderate mucocutaneous bleeding and absence of adenosine phosphate induced platelet aggregation that has_material_basis_in homozygous or compound heterozygous mutation in the P2RY12 gene on chromosome 3q. url:https://www.ncbi.nlm.nih.gov/pubmed/11196645 url:https://www.ncbi.nlm.nih.gov/pubmed/20966167 An amino acid metabolic disorder characterized by recessive X-linked inhetiance, impaired monoamine metabolism, impulsive aggressiveness and mild mental retardation that has_material_basis_in mutation in the MAOA gene on chromosome Xp11. ICD10CM:E70.8 MESH:C563156 OMIM:300615 ORDO:3057 monoamine oxidase A deficiency DOID:0060693 Brunner Syndrome An amino acid metabolic disorder characterized by recessive X-linked inhetiance, impaired monoamine metabolism, impulsive aggressiveness and mild mental retardation that has_material_basis_in mutation in the MAOA gene on chromosome Xp11. url:https://www.ncbi.nlm.nih.gov/pubmed/8211186 url:https://www.ncbi.nlm.nih.gov/pubmed/8503438 A cerebellar ataxia characterized by marked autosomal recessie inheritance, psychomotor retardation, cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic gait, hypotonia and the absence of retinal abnormalities that has_material_basis_in mutation in the ATCAY gene on chromosome 19p13.3. ICD10CM:G11.0 MESH:C563363 OMIM:601238 ORDO:94122 Cayman cerebellar ataxia DOID:0060694 Cayman type cerebellar ataxia A cerebellar ataxia characterized by marked autosomal recessie inheritance, psychomotor retardation, cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic gait, hypotonia and the absence of retinal abnormalities that has_material_basis_in mutation in the ATCAY gene on chromosome 19p13.3. url:https://www.ncbi.nlm.nih.gov/pubmed/14556008 url:https://www.ncbi.nlm.nih.gov/pubmed/8845847 A nervous system disease characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli and hypertonia. ICD10CM:G25.8 ORDO:3197 Kok disease congenital stiff man syndrome familial startle disease hereditary hyperekplexia startle disease DOID:0060695 hyperekplexia A nervous system disease characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli and hypertonia. url:https://www.ncbi.nlm.nih.gov/pubmed/12427512 url:https://www.ncbi.nlm.nih.gov/pubmed/1334371 A hyperekplexia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32. ICD10CM:G25.8 MESH:D000071017 OMIM:149400 ORDO:3197 HKPX1 DOID:0060696 hyperekplexia 1 A hyperekplexia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32. url:https://www.ncbi.nlm.nih.gov/pubmed/7881416 url:https://www.ncbi.nlm.nih.gov/pubmed/8298642 A hyperekplexia that has_material_basis_in compound heterozygous or homozygous mutation in the GLRB gene on chromosome 4q32. ICD10CM:G25.8 OMIM:614619 ORDO:3197 HKPX2 DOID:0060697 hyperekplexia 2 A hyperekplexia that has_material_basis_in compound heterozygous or homozygous mutation in the GLRB gene on chromosome 4q32. https://www.ncbi.nlm.nih.gov/pubmed/11929858 url:https://www.ncbi.nlm.nih.gov/pubmed/21391991 A hyperekplexia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A5 gene on chromosome 11p15. ICD10CM:G25.8 OMIM:614618 ORDO:3197 HKPX3 DOID:0060698 hyperekplexia 3 A hyperekplexia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A5 gene on chromosome 11p15. url:https://www.ncbi.nlm.nih.gov/pubmed/16751771 url:https://www.ncbi.nlm.nih.gov/pubmed/22700964 A hypercalcemia characterized byautosomal dominant inheritance with elevation of serum calcium levels and decreased urinary calcium excretion. ICD10CM:E83.5 OMIM:PS145980 ORDO:405 FBH FBHH FHH familial benign hypercalcemia familial benign hypocalciuric hypercalcemia DOID:0060699 familial hypocalciuric hypercalcemia A hypercalcemia characterized byautosomal dominant inheritance with elevation of serum calcium levels and decreased urinary calcium excretion. url:https://www.ncbi.nlm.nih.gov/pubmed/19809483 A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous loss-of-function mutations in the CASR gene on chromosome 3q21. ICD10CM:E83.5 OMIM:145980 ORDO:93372 FHH type 1 HHC1 familial benign hypercalcemia 1 familial hypocalciuric hypercalcemia type I hypocalciuric hypercalcemia type I DOID:0060700 familial hypocalciuric hypercalcemia 1 A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous loss-of-function mutations in the CASR gene on chromosome 3q21. url:https://www.ncbi.nlm.nih.gov/pubmed/7916660 A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the GNA11 gene on chromosome 19p13. ICD10CM:E83.5 OMIM:145981 ORDO:101049 FHH type 2 HHC2 familial hypocalciuric hypercalcemia type 2 hypocalciuric hypercalcemia type II DOID:0060701 familial hypocalciuric hypercalcemia 2 A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the GNA11 gene on chromosome 19p13. url:https://www.ncbi.nlm.nih.gov/pubmed/23802516 A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the AP2S1 gene on chromosome 19q13. ICD10CM:E83.5 OMIM:600740 ORDO:101050 FHH type 3 HHC3 familial hypocalciuric hypercalcemia type 3 hypocalciuric hypercalcemia type III DOID:0060702 familial hypocalciuric hypercalcemia 3 A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the AP2S1 gene on chromosome 19q13. url:https://www.ncbi.nlm.nih.gov/pubmed/23222959 A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3. ICD10CM:Q87.0 MESH:C537369 OMIM:602849 ORDO:53271 UMLS_CUI:C1864436 FGFR3-related craniosynostosis DOID:0060703 Muenke Syndrome A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3. url:https://www.ncbi.nlm.nih.gov/pubmed/18000976 url:https://www.ncbi.nlm.nih.gov/pubmed/9042914 A primary immunodeficiency disease characterized by immune dysregulation typically after viral infection, usually associated with Epstein-Barr viral infection. OMIM:PS308240 DOID:0060704 lymphoproliferative syndrome A primary immunodeficiency disease characterized by immune dysregulation typically after viral infection, usually associated with Epstein-Barr viral infection. url:https://www.ncbi.nlm.nih.gov/pubmed/198660 url:https://www.ncbi.nlm.nih.gov/pubmed/22197273 A lymphoproliferative syndrome characterized by X-linked inheritance, severe immune dysregulation after viral infect that may manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis, and/or malignant lymphoma and that has_material_basis_in mutation in the SH2D1A gene on chromosome Xq25. ICD10CM:D82.3 OMIM:308240 XLP1 DOID:0060705 X-linked lymphoproliferative syndrome 1 A lymphoproliferative syndrome characterized by X-linked inheritance, severe immune dysregulation after viral infect that may manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis, and/or malignant lymphoma and that has_material_basis_in mutation in the SH2D1A gene on chromosome Xq25. url:https://www.ncbi.nlm.nih.gov/pubmed/6283885 url:https://www.ncbi.nlm.nih.gov/pubmed/9771704 A lymphoproliferative syndrome characterized by X-linked inheritance, immune dysregulation after viral infect that may include lymphohystiocytosis, hypogammaglobulinemia and/or splenomegaly and that has_material_basis_in mutation in the XIAP gene on chromosome Xq25. ICD10CM:D82.3 OMIM:300635 XIAP deficiency XLP2 DOID:0060706 X-linked lymphoproliferative syndrome 2 A lymphoproliferative syndrome characterized by X-linked inheritance, immune dysregulation after viral infect that may include lymphohystiocytosis, hypogammaglobulinemia and/or splenomegaly and that has_material_basis_in mutation in the XIAP gene on chromosome Xq25. url:https://www.ncbi.nlm.nih.gov/pubmed/17080092 A lymphoproliferative syndrome characterized by autosomal recessive inheritance, early childhood onset of Epstein-Barr virus-associated immune dysregulation typically manifesting as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and-or hypogammaglobulinemia and that has_material_basis_in homozygous mutation in the ITK gene on chromosome 5q32. ICD10CM:D47.9 OMIM:613011 LPFS1 DOID:0060707 lymphoproliferative syndrome 1 A lymphoproliferative syndrome characterized by autosomal recessive inheritance, early childhood onset of Epstein-Barr virus-associated immune dysregulation typically manifesting as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and-or hypogammaglobulinemia and that has_material_basis_in homozygous mutation in the ITK gene on chromosome 5q32. url:https://www.ncbi.nlm.nih.gov/pubmed/19425169 url:https://www.ncbi.nlm.nih.gov/pubmed/21109689 A lymphoproliferative syndrome characterized by autosomal recessive inheritance, persistent symptomatic Epstein-Barr virus-associated viremia, hypogammaglobulinemia, and impairment in specific antibody function and that has_material_basis_in homozygous mutation in the CD27 gene on chromosome 12p13. ICD10CM:D47.9 OMIM:615122 CD27 deficiency LPFS2 DOID:0060708 lymphoproliferative syndrome 2 A lymphoproliferative syndrome characterized by autosomal recessive inheritance, persistent symptomatic Epstein-Barr virus-associated viremia, hypogammaglobulinemia, and impairment in specific antibody function and that has_material_basis_in homozygous mutation in the CD27 gene on chromosome 12p13. url:https://www.ncbi.nlm.nih.gov/pubmed/22197273 url:https://www.ncbi.nlm.nih.gov/pubmed/22801960 An autosomal recessive congenital ichthyosis characterized by fine scales on the scalp, face, trunk and limbs, marked palmoplantar hyperlinearity, hyperkeratosis, acanthosis, mild hypergranulosis and thickened stratum corneum that has_material_basis_in homozygous or compound heterozygous mutation in the ALOX12B gene on chromosome 17p13. ICD10CM:Q80.2 OMIM:242100 ARCI2 BROCQ congenital ichthyosiform erythroderma nonbullous form NCIE1 nonbullous congenital ichthyosiform erythroderma 1 DOID:0060710 autosomal recessive congenital ichthyosis 2 An autosomal recessive congenital ichthyosis characterized by fine scales on the scalp, face, trunk and limbs, marked palmoplantar hyperlinearity, hyperkeratosis, acanthosis, mild hypergranulosis and thickened stratum corneum that has_material_basis_in homozygous or compound heterozygous mutation in the ALOX12B gene on chromosome 17p13. url:https://www.ncbi.nlm.nih.gov/pubmed/11773004 url:https://www.ncbi.nlm.nih.gov/pubmed/16116617 An autosomal recessive congenital ichthyosis characterized by mild ichthyosis, fine scales on the scalp, face, trunk and limbs, dark brown adherent scales on the neck, elbow and knees, and hypohydrosis that has_material_basis_in homozygous or compound heterozygous mutation in the ALOXE3 gene on chromosome 17p13. ICD10CM:Q80.2 OMIM:606545 ARCI3 lamellar ichthyosis 5 DOID:0060711 autosomal recessive congenital ichthyosis 3 An autosomal recessive congenital ichthyosis characterized by mild ichthyosis, fine scales on the scalp, face, trunk and limbs, dark brown adherent scales on the neck, elbow and knees, and hypohydrosis that has_material_basis_in homozygous or compound heterozygous mutation in the ALOXE3 gene on chromosome 17p13. url:https://www.ncbi.nlm.nih.gov/pubmed/11398099 url:https://www.ncbi.nlm.nih.gov/pubmed/11773004 An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis and ectropion that has_material_basis_in homozygous or compound hetrezogyous mutation in the ABCA12 gene on chromosome 2q35. ICD10CM:Q80.2 OMIM:601277 ARCI4A ICR2B ichthyosis congenita IIB lamellar ichthyosis 2 DOID:0060712 autosomal recessive congenital ichthyosis 4A An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis and ectropion that has_material_basis_in homozygous or compound hetrezogyous mutation in the ABCA12 gene on chromosome 2q35. url:https://www.ncbi.nlm.nih.gov/pubmed/10094194 url:https://www.ncbi.nlm.nih.gov/pubmed/20672373 An autosomal recessive congenital ichthyosis characterized by severe neonatal ichthyosis with bilateral ectropion and eclabium, flattened and rudimentary nose and ears, constricting bands around the extremities and frequently lethality during infancy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35. ICD10CM:Q80.4 OMIM:242500 ORDO:457 ARCI4B harlequin ichthyosis harlequin type ichthyosis congenita harlequin type ichthyosis fetalis DOID:0060713 autosomal recessive congenital ichthyosis 4B An autosomal recessive congenital ichthyosis characterized by severe neonatal ichthyosis with bilateral ectropion and eclabium, flattened and rudimentary nose and ears, constricting bands around the extremities and frequently lethality during infancy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35. https://ghr.nlm.nih.gov/condition/harlequin-ichthyosis url:https://www.ncbi.nlm.nih.gov/pubmed/21339420 An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has_material_basis_in homozygous mutation in the CYP4F22 gene on chromosome 19p13. ICD10CM:Q80.2 OMIM:604777 ARCI5 autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosis DOID:0060714 autosomal recessive congenital ichthyosis 5 An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has_material_basis_in homozygous mutation in the CYP4F22 gene on chromosome 19p13. url:https://www.ncbi.nlm.nih.gov/pubmed/10712223 url:https://www.ncbi.nlm.nih.gov/pubmed/16436457 An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, hyperkeratosis, parakeratosis and moderate acanthosis that has_material_basis_in homozygous or compound heterozygous mutation in the NIPAL4 gene on chromosome 5q33. ICD10CM:Q80.2 OMIM:612281 ARCI6 DOID:0060715 autosomal recessive congenital ichthyosis 6 An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, hyperkeratosis, parakeratosis and moderate acanthosis that has_material_basis_in homozygous or compound heterozygous mutation in the NIPAL4 gene on chromosome 5q33. url:https://www.ncbi.nlm.nih.gov/pubmed/16436457 url:https://www.ncbi.nlm.nih.gov/pubmed/17557927 An autosomal recessive congenital ichthyosis characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis, hypergranulosis, acanthosis, and papillomatosis that has_material_basis_in variation in the chromosome region 12p11.2-q13.1. ICD10CM:Q80.2 OMIM:615022 ARCI7 DOID:0060716 autosomal recessive congenital ichthyosis 7 An autosomal recessive congenital ichthyosis characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis, hypergranulosis, acanthosis, and papillomatosis that has_material_basis_in variation in the chromosome region 12p11.2-q13.1. url:https://www.ncbi.nlm.nih.gov/pubmed/16117785 An autosomal recessive congenital ichthyosis characterized by diffuse lamellar ichthyosis, slight facial erythema, hyperkeratosis, orthokeratosis, hypergranulosis, and acanthosis that has_material_basis_in homozygous mutation in the LIPN gene on chromosome 10q23. ICD10CM:Q80.2 OMIM:613943 ARCI8 lamellar ichthyosis 4 late-onset lamellar ichthyosis DOID:0060717 autosomal recessive congenital ichthyosis 8 An autosomal recessive congenital ichthyosis characterized by diffuse lamellar ichthyosis, slight facial erythema, hyperkeratosis, orthokeratosis, hypergranulosis, and acanthosis that has_material_basis_in homozygous mutation in the LIPN gene on chromosome 10q23. url:https://www.ncbi.nlm.nih.gov/pubmed/21439540 An autosomal recessive congenital ichthyosis characterized by fine erythrodermic scales, palmoplantar hyperlinearity, thick orthohyperkeratosis, hypergranulosis, moderate acanthosis and mild alopecia that has_material_basis_in homozygous mutation in the CERS3 gene on chromosome 15q26. ICD10CM:Q80.2 OMIM:615023 ARCI9 DOID:0060718 autosomal recessive congenital ichthyosis 9 An autosomal recessive congenital ichthyosis characterized by fine erythrodermic scales, palmoplantar hyperlinearity, thick orthohyperkeratosis, hypergranulosis, moderate acanthosis and mild alopecia that has_material_basis_in homozygous mutation in the CERS3 gene on chromosome 15q26. url:https://www.ncbi.nlm.nih.gov/pubmed/21093221 url:https://www.ncbi.nlm.nih.gov/pubmed/23754960 An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, moderade erythroderma, palmoplantar keratoderma and hypergranulosis that has_material_basis_in homozygous mutation in the PNPLA1 gene on chromosome 6p21. ICD10CM:Q80.2 OMIM:615024 ARCI10 DOID:0060719 autosomal recessive congenital ichthyosis 10 An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, moderade erythroderma, palmoplantar keratoderma and hypergranulosis that has_material_basis_in homozygous mutation in the PNPLA1 gene on chromosome 6p21. url:https://www.ncbi.nlm.nih.gov/pubmed/22246504 An autosomal recessive congenital ichthyosis characterized by ichthyosis, hypotrichosis, photophobia, corneal opacity, pingueculum, blepharitis, marked acanthosis, otrhohyperkeratosis and hyperkeratosis that has_material_basis_in homozygous mutation in the ST14 gene on chromosome 11q24. ICD10CM:Q80.8 OMIM:602400 IFAH syndrome IHS autosomal recessive ichthyosis with hypotrichosis hypotrichosis-congenital ichthyosis syndrome ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis ichthyosis-follicular atrophoderma-hypotrichosis syndrome ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome ichthyosis-hypotrichosis syndrome DOID:0060720 autosomal recessive congenital ichthyosis 11 An autosomal recessive congenital ichthyosis characterized by ichthyosis, hypotrichosis, photophobia, corneal opacity, pingueculum, blepharitis, marked acanthosis, otrhohyperkeratosis and hyperkeratosis that has_material_basis_in homozygous mutation in the ST14 gene on chromosome 11q24. url:https://www.ncbi.nlm.nih.gov/pubmed/17273967 url:https://www.ncbi.nlm.nih.gov/pubmed/18843291 url:https://www.ncbi.nlm.nih.gov/pubmed/9450882 A carbohydrate metabolic disorder that has_material_basis_in homozygous or compound heterozygous mutation in the NGLY1 gene on chromosome 1p24. It is characterized by global developmental delay, hypotonia, abnormal involuntary movements, and alacrima or poor tear production. ICD10CM:E77.8 OMIM:615273 ORDO:404454 NGLY1-CDDG congenital disorder of deglycosylation congenital disorder of glycosylation type Iv deficiency of N-glycanase 1 DOID:0060728 NGLY1-deficiency A carbohydrate metabolic disorder that has_material_basis_in homozygous or compound heterozygous mutation in the NGLY1 gene on chromosome 1p24. It is characterized by global developmental delay, hypotonia, abnormal involuntary movements, and alacrima or poor tear production. url:https://www.ncbi.nlm.nih.gov/pubmed/24651605 url:https://www.ncbi.nlm.nih.gov/pubmed/27388694 A generalized dystomia characterized by autosomal dominant inheritance of dystonia usually presenting initially as focal, typically in the limbs, but often generalizes with age that has_material_basis_in heterozygous mutation in the TOR1A gene on chromosome 9q34. ICD10CM:G24.1 OMIM:128100 ORDO:256 dystonia musculorum deformans DOID:0060730 torsion dystonia 1 A generalized dystomia characterized by autosomal dominant inheritance of dystonia usually presenting initially as focal, typically in the limbs, but often generalizes with age that has_material_basis_in heterozygous mutation in the TOR1A gene on chromosome 9q34. https://www.ncbi.nlm.nih.gov/pubmed/11912106 https://www.ncbi.nlm.nih.gov/pubmed/9288096 An autonomic nervous system disease characterized by reduced responsiveness of the respiratory center to carbon dioxide, diminished pupillary light responses, and other symptoms related to defects in the autonomic nervous system and that has_material_basis_in most commonly heterozygous mutation in the PHOX2B gene on chromosome 4p13 and less frequently mutations in the RET, GDNF, EDN3, BDNF, or ASCL1 genes. ICD10CM:G47.3 OMIM:209880 ORDO:661 CCHS Ondine curse Ondine syndrome central congenital hypoventilation syndrome congenital central alveolar hypoventilation syndrome DOID:0060731 congenital central hypoventilation syndrome An autonomic nervous system disease characterized by reduced responsiveness of the respiratory center to carbon dioxide, diminished pupillary light responses, and other symptoms related to defects in the autonomic nervous system and that has_material_basis_in most commonly heterozygous mutation in the PHOX2B gene on chromosome 4p13 and less frequently mutations in the RET, GDNF, EDN3, BDNF, or ASCL1 genes. https://www.ncbi.nlm.nih.gov/pubmed/11840487 https://www.ncbi.nlm.nih.gov/pubmed/12640453 https://www.ncbi.nlm.nih.gov/pubmed/8135282 https://www.ncbi.nlm.nih.gov/pubmed/8696331 A chromosome deletion syndrome characterized by trigonocephaly, flattened occiput, midface hypoplasia, long philtrum, prominent forehead, broad flat nasal bridge, anteverted nares, malformed external ears, hypertelorism, hypertonia, delayed psychomotor development and that has_material_basis_in a contiguous gene deletion on the short arm of chromosome 9. ICD10CM:Q93.5 OMIM:158170 ORDO:261112 9p syndrome Alfi syndrome monosomy 9p syndrome DOID:0060732 chromosome 9p deletion syndrome A chromosome deletion syndrome characterized by trigonocephaly, flattened occiput, midface hypoplasia, long philtrum, prominent forehead, broad flat nasal bridge, anteverted nares, malformed external ears, hypertelorism, hypertonia, delayed psychomotor development and that has_material_basis_in a contiguous gene deletion on the short arm of chromosome 9. https://www.ncbi.nlm.nih.gov/pubmed/18452192 https://www.ncbi.nlm.nih.gov/pubmed/4541805 https://www.ncbi.nlm.nih.gov/pubmed/6985017 A junctional epidermolysis bullosa characterized by generalized blistering at birth with congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract and that has_material_basis_in mutations in the ITGB4 or ITGA6 genes. ICD10CM:Q81.8 OMIM:226730 ORDO:79403 Carmi syndrome JEB-PA epidermolysis bullosa junctionalis with pyloric atresia junctional epidermolysis bullosa-pyloric atresia syndrome DOID:0060733 junctional epidermolysis bullosa with pyloric atresia A junctional epidermolysis bullosa characterized by generalized blistering at birth with congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract and that has_material_basis_in mutations in the ITGB4 or ITGA6 genes. https://www.ncbi.nlm.nih.gov/pubmed/16473856 https://www.ncbi.nlm.nih.gov/pubmed/7545057 https://www.ncbi.nlm.nih.gov/pubmed/9185503 An epidermolysis bullosa simplex characterized by generalized non-scarring skin blistering that often occurs in clusters, progressive hyperkeratosis of the palms and soles, clumping of keratin filaments in basal epidermal cells and that has_material_basis_in mutation in either the KRT5 or KRT14 genes. This is the most severe of the epidermolysis bullosa simplex types and may result in neonatal or infant lethality in some cases. ICD10CM:Q81.0 OMIM:131760 ORDO:79396 EBS-gen sev EBSDM epidermolysis bullosa herpetiformis Dowling-Meara type epidermolysis bullosa simplex, herpetiformis generalized severe epidermolysis bullosa simplex DOID:0060735 epidermolysis bullosa simplex Dowling-Meara type An epidermolysis bullosa simplex characterized by generalized non-scarring skin blistering that often occurs in clusters, progressive hyperkeratosis of the palms and soles, clumping of keratin filaments in basal epidermal cells and that has_material_basis_in mutation in either the KRT5 or KRT14 genes. This is the most severe of the epidermolysis bullosa simplex types and may result in neonatal or infant lethality in some cases. url:https://www.ncbi.nlm.nih.gov/books/NBK1369/ url:https://www.ncbi.nlm.nih.gov/pubmed/1372711 url:https://www.ncbi.nlm.nih.gov/pubmed/1717157 url:https://www.ncbi.nlm.nih.gov/pubmed/18374450 An epidermolysis bullosa simplex characterized by skin blisters originating in the deepest areas of the basal cell cytoplasm just above the hemidesmosomes, skin bruising and that has_material_basis_in heterozygous mutation in the PLEC1 gene on chromosome 8q24. ICD10CM:Q81.0 OMIM:131950 ORDO:79401 EBS-O EBS-Og EBSOG DOID:0060736 epidermolysis bullosa simplex Ogna type An epidermolysis bullosa simplex characterized by skin blisters originating in the deepest areas of the basal cell cytoplasm just above the hemidesmosomes, skin bruising and that has_material_basis_in heterozygous mutation in the PLEC1 gene on chromosome 8q24. url:https://www.ncbi.nlm.nih.gov/pubmed/11851880 A junctional epidermolysis bullosa characterized by autosomal recessive inheritance of severe blisters and extensive erosions, localized to the skin and mucous membranes, resulting in a failure to thrive and that has_material_basis_in mutations in any 1 of the 3 genes encoding the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The Herlitz type is more severe than the related non-Herlitz type of junctional epidermolysis bullosa. ICD10CM:Q81.1 OMIM:226700 ORDO:79404 Herlitz type epidermolysis bullosa junctionalis Herlitz-Pearson-type epidermolysis bullosa JEB-H JEB-Herlitz type epidermolysis bullosa letalis junctional epidermolysis bullosa generalisata gravis junctional epidermolysis bullosa, Herlitz-Pearson type DOID:0060737 junctional epidermolysis bullosa Herlitz type A junctional epidermolysis bullosa characterized by autosomal recessive inheritance of severe blisters and extensive erosions, localized to the skin and mucous membranes, resulting in a failure to thrive and that has_material_basis_in mutations in any 1 of the 3 genes encoding the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The Herlitz type is more severe than the related non-Herlitz type of junctional epidermolysis bullosa. https://www.ncbi.nlm.nih.gov/pubmed/18374450 url:https://www.ncbi.nlm.nih.gov/pubmed/8012393 url:https://www.ncbi.nlm.nih.gov/pubmed/8586427 A junctional epidermolysis bullosa characterized by skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in several genes including COL17A1, ITGB4 and the 3 genes that encode the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The non-Herlitz type is less severe than the related Herlitz type of junctional epidermolysis bullosa. ICD10CM:Q81.8 OMIM:226650 ORDO:79402 ORDO:89840 GABEB JEB-nH gen JEN-nH generalized atrophic benign epidermolysis bullosa generalized junctional epidermolysis bullosa, non-Herlitz type junctional epidermolysis bullosa generalisata mitis junctional epidermolysis bullosa, Disentis type DOID:0060738 junctional epidermolysis bullosa non-Herlitz type A junctional epidermolysis bullosa characterized by skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in several genes including COL17A1, ITGB4 and the 3 genes that encode the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The non-Herlitz type is less severe than the related Herlitz type of junctional epidermolysis bullosa. url:https://www.ncbi.nlm.nih.gov/pubmed/10792571 url:https://www.ncbi.nlm.nih.gov/pubmed/11810295 url:https://www.ncbi.nlm.nih.gov/pubmed/18374450 url:https://www.ncbi.nlm.nih.gov/pubmed/7550320 url:https://www.ncbi.nlm.nih.gov/pubmed/7706760 A autosomal dominant disease characterized by distal limb defects (short thumbs and first toes, clinodactyly of the fifth fingers, delayed ossification of the wrist and ankle bones), urogenital defects and that has_material_basis_in heterozygous mutation in the HOXA13 gene on chromosome 7p15. ICD10CM:Q51.2 OMIM:140000 ORDO:2438 HFGS hand-foot-uterus syndrome DOID:0060739 hand-foot-genital syndrome A autosomal dominant disease characterized by distal limb defects (short thumbs and first toes, clinodactyly of the fifth fingers, delayed ossification of the wrist and ankle bones), urogenital defects and that has_material_basis_in heterozygous mutation in the HOXA13 gene on chromosome 7p15. url:https://www.ncbi.nlm.nih.gov/pubmed/5450271 url:https://www.ncbi.nlm.nih.gov/pubmed/9020844 A methylmalonic acidemia characterized by accumulation of methylmalonic acid in the blood that is unresponsive to vitamn B12 therapy and that has_material_basis_in mutation in the MUT gene on chromosome 6p12.3. ICD10CM:E71.1 OMIM:251000 ORDO:27 methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency methylmalonic aciduria mut type vitamin B12-unresponsive methylmalonic aciduria DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency A methylmalonic acidemia characterized by accumulation of methylmalonic acid in the blood that is unresponsive to vitamn B12 therapy and that has_material_basis_in mutation in the MUT gene on chromosome 6p12.3. url:https://www.ncbi.nlm.nih.gov/pubmed/1975493 url:https://www.ncbi.nlm.nih.gov/pubmed/1977311 A methylmalonic acidemia characterized by autosomal recessive inheritance of low uptake of transcobalamin-bound cobalamin, but normal conversion to adenosylcobalamin and methylcobalamin and that has_material_basis_in mutation in the CD320 gene. ICD10CM:E71.1 OMIM:613646 ORDO:280183 methylmalonic acidemia, TCb1R type methylmalonic acidemia, TCbIR type methylmalonic aciduria due to transcobalamin receptor defect DOID:0060741 methylmalonic acidemia due to transcobalamin receptor defect A methylmalonic acidemia characterized by autosomal recessive inheritance of low uptake of transcobalamin-bound cobalamin, but normal conversion to adenosylcobalamin and methylcobalamin and that has_material_basis_in mutation in the CD320 gene. url:https://www.ncbi.nlm.nih.gov/pubmed/20524213 A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAA gene on chromosome 4q31. ICD10CM:E71.1 OMIM:251100 ORDO:79310 methylmalonic aciduria cb1A type methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type DOID:0060742 methylmalonic acidemia cb1A type A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAA gene on chromosome 4q31. url:https://www.ncbi.nlm.nih.gov/pubmed/12438653 url:https://www.ncbi.nlm.nih.gov/pubmed/5686220 A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAB gene on chromosome 12q24. ICD10CM:E71.1 OMIM:251110 ORDO:79311 methylmalonic aciduria cb1B type methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type DOID:0060743 methylmalonic acidemia cb1B type A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAB gene on chromosome 12q24. https://www.ncbi.nlm.nih.gov/pubmed/12471062 url:https://www.ncbi.nlm.nih.gov/pubmed/7213387 An autosomal recessive disease characterized by bilateral prelingual sensorineural hearing loss and euthyroid goiter and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC26A4 gene on chromosome 7q. ICD10CM:E07.1 MESH:C536648 OMIM:274600 ORDO:705 UMLS_CUI:C0271829 TDH2B congenital hypothyroidism due to dyshormonogenesis 2B deafness with goiter genetic defect in thyroid hormonogenesis 2B goiter-deafness syndrome thyroid dyshormonogenesis 2B DOID:0060744 Pendred Syndrome An autosomal recessive disease characterized by bilateral prelingual sensorineural hearing loss and euthyroid goiter and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC26A4 gene on chromosome 7q. url:https://www.ncbi.nlm.nih.gov/pubmed/9398842 A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium in the posterior pole of the eye in a honeycomb pattern and that has_material_basis_in mutations in the EFEMP1 gene on chromosome 2p16. ICD10CM:H35.5 OMIM:126600 ORDO:75376 DHRD Doyne honeycomb degeneration of retina DOID:0060745 Doyne honeycomb retinal dystrophy A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium in the posterior pole of the eye in a honeycomb pattern and that has_material_basis_in mutations in the EFEMP1 gene on chromosome 2p16. url:https://www.ncbi.nlm.nih.gov/pubmed/10369267 url:https://www.ncbi.nlm.nih.gov/pubmed/11384588 A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has_material_basis_in mutations in the CFH gene on chromosome 1q31.3. ICD10CM:H35.5 OMIM:126700 ORDO:75376 cuticular drusen drusen of bruch membrane early adult-onset grouped drusen DOID:0060746 basal laminar drusen A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has_material_basis_in mutations in the CFH gene on chromosome 1q31.3. url:https://www.ncbi.nlm.nih.gov/pubmed/18252232 url:https://www.ncbi.nlm.nih.gov/pubmed/5448127 An autosomal dominant disease characterized by upper limb anomalies, ocular anomalies, and, in some cases, renal anomalies and that has_material_basis_in heterozygous mutation in the SALL4 gene on chromosome 20q13. ICD10CM:Q87.8 OMIM:607323 ORDO:93293 DR syndrome Duane anomaly with radial ray abnormalities and deafness Okihiro syndrome acrorenocular syndrome DOID:0060747 Duane-radial ray syndrome An autosomal dominant disease characterized by upper limb anomalies, ocular anomalies, and, in some cases, renal anomalies and that has_material_basis_in heterozygous mutation in the SALL4 gene on chromosome 20q13. url:https://www.ncbi.nlm.nih.gov/pubmed/12393809 url:https://www.ncbi.nlm.nih.gov/pubmed/12843316 url:https://www.ncbi.nlm.nih.gov/pubmed/8882787 A temporal lobe epilepsy characterized by autosomal dominant inheritance of partial seizures originating from the temporal lobe that are often accompanied by auditory symptoms and that has_material_basis_in heterozygous mutation in the LGI1 gene on chromosome 10q24. OMIM:600512 ORDO:101046 ETL1 partial epilepsy with auditory features DOID:0060748 familial temporal lobe epilepsy 1 A temporal lobe epilepsy characterized by autosomal dominant inheritance of partial seizures originating from the temporal lobe that are often accompanied by auditory symptoms and that has_material_basis_in heterozygous mutation in the LGI1 gene on chromosome 10q24. url:https://www.ncbi.nlm.nih.gov/pubmed/10851389 url:https://www.ncbi.nlm.nih.gov/pubmed/12205652 url:https://www.ncbi.nlm.nih.gov/pubmed/15079010 A temporal lobe epilepsy that has_material_basis_in variation in the chromosome region 3q25-q26. OMIM:615697 ORDO:163717 ETL6 DOID:0060749 familial temporal lobe epilepsy 6 A temporal lobe epilepsy that has_material_basis_in variation in the chromosome region 3q25-q26. url:https://www.ncbi.nlm.nih.gov/pubmed/24021842 A temporal lobe epilepsy characterized by simple or complex partial seizures often accompanied by intense feelings of deja or altered awareness and that has_material_basis_in variation in the chromosome region 4q13.2-q21.3. OMIM:611630 ORDO:163717 FMTLE familial mesial temporal lobe epilepsy DOID:0060750 familial temporal lobe epilepsy 3 A temporal lobe epilepsy characterized by simple or complex partial seizures often accompanied by intense feelings of deja or altered awareness and that has_material_basis_in variation in the chromosome region 4q13.2-q21.3. url:https://www.ncbi.nlm.nih.gov/pubmed/17377072 A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has_material_basis_in heterozygous mutation in the RELN gene on chromosome 7q22. OMIM:616436 ORDO:101046 ETL7 DOID:0060751 familial temporal lobe epilepsy 7 A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has_material_basis_in heterozygous mutation in the RELN gene on chromosome 7q22. url:https://www.ncbi.nlm.nih.gov/pubmed/26046367 A temporal lobe epilepsy that has_material_basis_in heterozygous mutation in the CPA6 gene on chromosome 8q13. OMIM:614417 ORDO:163717 ETL5 DOID:0060752 familial temporal lobe epilepsy 5 A temporal lobe epilepsy that has_material_basis_in heterozygous mutation in the CPA6 gene on chromosome 8q13. url:https://www.ncbi.nlm.nih.gov/pubmed/21922598 A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has_material_basis_in variation in the chromosome region 9q21-q22. OMIM:611631 ORDO:98819 EPOLM ETL4 occipitotemporal lobe epilepsy and migraine with aura DOID:0060753 familial temporal lobe epilepsy 4 A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has_material_basis_in variation in the chromosome region 9q21-q22. url:https://www.ncbi.nlm.nih.gov/pubmed/17460155 url:https://www.ncbi.nlm.nih.gov/pubmed/18332351 A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has_material_basis_in heterozygous mutation in the GAL gene on chromosome 11q13. OMIM:616461 ORDO:101046 ETL8 DOID:0060754 familial temporal lobe epilepsy 8 A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has_material_basis_in heterozygous mutation in the GAL gene on chromosome 11q13. url:https://www.ncbi.nlm.nih.gov/pubmed/25691535 A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has_material_basis_in variation in the chromosome region 12q22-q23.3. OMIM:608096 ORDO:98819 ETL2 DOID:0060755 familial temporal lobe epilepsy 2 A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has_material_basis_in variation in the chromosome region 12q22-q23.3. url:https://www.ncbi.nlm.nih.gov/pubmed/12011300 url:https://www.ncbi.nlm.nih.gov/pubmed/15342703 A sclerosteosis that has_material_basis_in homozygous mutation in the SOST gene on chromosome 17q21. ICD10CM:M85.2 OMIM:269500 ORDO:3152 SOST1 DOID:0060756 sclerosteosis 1 A sclerosteosis that has_material_basis_in homozygous mutation in the SOST gene on chromosome 17q21. url:https://www.ncbi.nlm.nih.gov/pubmed/11179006 A sclerosteosis that has_material_basis_in heterozygous or homozygous mutation in the LRP4 gene on chromosome 11p11. ICD10CM:M85.2 OMIM:614305 ORDO:3152 SOST2 DOID:0060757 sclerosteosis 2 A sclerosteosis that has_material_basis_in heterozygous or homozygous mutation in the LRP4 gene on chromosome 11p11. url:https://www.ncbi.nlm.nih.gov/pubmed/21471202 A hyperimmunoglobulin syndrome characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the AICDA gene on chromosome 12p13. ICD10CM:D80.5 OMIM:605258 ORDO:101089 ORDO:183666 AID deficiency HIGM2 activation-induced cytidine deaminase deficiency hyper-IgM syndrome type 2 DOID:0060758 immunodeficiency with hyper-IgM type 2 A hyperimmunoglobulin syndrome characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the AICDA gene on chromosome 12p13. url:https://www.ncbi.nlm.nih.gov/pubmed/11007475 A hyperimmunoglobulin syndrome characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process that has_material_basis_in homozygous or compound heterozygous mutation in the UNG gene on chromosome 12q23-q24.1. ICD10CM:D80.5 OMIM:608106 ORDO:101092 ORDO:183666 HIGM5 hyper-IgM syndrome 5 hyper-IgM syndrome due to UNG deficiency hyper-IgM syndrome due to uracil N-glycosylase DOID:0060759 immunodeficiency with hyper IgM type 5 A hyperimmunoglobulin syndrome characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process that has_material_basis_in homozygous or compound heterozygous mutation in the UNG gene on chromosome 12q23-q24.1. url:https://www.ncbi.nlm.nih.gov/pubmed/12958596 A hyperimmunoglobulin syndrome characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process. ICD10CM:D80.5 OMIM:608184 ORDO:101091 ORDO:183666 HIGM4 hyper-IgM syndrome type 4 DOID:0060760 immunodeficiency with hyper-IgM type 4 A hyperimmunoglobulin syndrome characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process. url:https://www.ncbi.nlm.nih.gov/pubmed/12840068 A chronic myeloid leukemia characterized by chronic myelocytic leukemia in early infancy and absence of the BCR/ABL fusion gene (Philadelphia chromosome). OMIM:600080 familial CML-like syndrome DOID:0060761 familial chronic myelocytic leukemia-like syndrome A chronic myeloid leukemia characterized by chronic myelocytic leukemia in early infancy and absence of the BCR/ABL fusion gene (Philadelphia chromosome). url:https://www.ncbi.nlm.nih.gov/pubmed/8086739 A skin disease characterized by thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22 or by homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34. ICD10CM:Q82.8 OMIM:275210 ORDO:1662 UMLS_CUI:C0406585 hyperkeratosis-contracture syndrome lethal restrictive dermopathy tight skin contracture syndrome DOID:0060762 lethal restrictive dermopathy A skin disease characterized by thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22 or by homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34. url:https://www.ncbi.nlm.nih.gov/pubmed/15317753 url:https://www.ncbi.nlm.nih.gov/pubmed/20101687 A retinoschisis characterized by schisis (splitting) of the neural retina leading to reduced visual acuity in males due that has_material_basis_in the RS1 gene on chromosome Xp22. ICD10CM:Q14.1 OMIM:312700 ORDO:792 X-linked juvenile retinoschisis X-linked retinoschisis XLRS DOID:0060763 X-linked juvenile retinoschisis 1 A retinoschisis characterized by schisis (splitting) of the neural retina leading to reduced visual acuity in males due that has_material_basis_in the RS1 gene on chromosome Xp22. url:https://www.ncbi.nlm.nih.gov/pubmed/17172462 url:https://www.ncbi.nlm.nih.gov/pubmed/9326935 A Robinow syndrome characterized by autosomal recessive inheritance of severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia that has_material_basis_in homozygous or compound heterozygous mutations in the ROR2 gene on chromosome 9q22. ICD10CM:Q87.1 OMIM:268310 ORDO:1507 ORDO:97360 COVESDEM syndrome RRS costovertebral segmentation defect-mesomelia syndrome DOID:0060764 autosomal recessive Robinow syndrome A Robinow syndrome characterized by autosomal recessive inheritance of severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia that has_material_basis_in homozygous or compound heterozygous mutations in the ROR2 gene on chromosome 9q22. url:https://www.ncbi.nlm.nih.gov/pubmed/10932186 url:https://www.ncbi.nlm.nih.gov/pubmed/10932187 A Robinow syndrome characterized by autosomal dominant inheritance of mesomelic limb shortening, genital hypoplasia, and distinctive facial features that has_material_basis_in heterozygous mutation in the DVL1 gene on chromosome 1p36. ICD10CM:Q87.1 OMIM:616331 ORDO:3107 ORDO:97360 DRS2 DOID:0060765 autosomal dominant Robinow syndrome 2 A Robinow syndrome characterized by autosomal dominant inheritance of mesomelic limb shortening, genital hypoplasia, and distinctive facial features that has_material_basis_in heterozygous mutation in the DVL1 gene on chromosome 1p36. url:https://www.ncbi.nlm.nih.gov/pubmed/25817014 url:https://www.ncbi.nlm.nih.gov/pubmed/26924530 A Robinow syndrome characterized by autosomal dominant inheritance of dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies that has_material_basis_in heterozygous mutation in the WNT5A gene on chromosome 3p. ICD10CM:Q87.1 OMIM:180700 ORDO:3107 ORDO:97360 DRS1 DOID:0060766 autosomal dominant Robinow syndrome 1 A Robinow syndrome characterized by autosomal dominant inheritance of dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies that has_material_basis_in heterozygous mutation in the WNT5A gene on chromosome 3p. url:https://www.ncbi.nlm.nih.gov/pubmed/19918918 url:https://www.ncbi.nlm.nih.gov/pubmed/24716670 A Robinow syndrome characterized by autosomal dominant inheritance of mesomelia, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge that has_material_basis_in heterozygous mutation in the DVL3 gene on chromosome 3q27. ICD10CM:Q87.1 OMIM:616894 ORDO:3107 ORDO:97360 DRS3 DOID:0060767 autosomal dominant Robinow syndrome 3 A Robinow syndrome characterized by autosomal dominant inheritance of mesomelia, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge that has_material_basis_in heterozygous mutation in the DVL3 gene on chromosome 3q27. url:https://www.ncbi.nlm.nih.gov/pubmed/26924530 A chromosome deletion syndrome characterized by mild-to-moderate infantile hypotonia, minor skeletal anomalies, prepubertal short stature, brachydactyly, ophthalmologic and otolaryngologic abnormalities, peripheral neuropathy, developmental delay, cognitive impairment, and behavioral abnormalities that has_material basis_in a 3.7-Mb interstitial deletion in chromosome 17p11.2 or sometimes by mutations in the RAI1 gene in the same region. ICD10CM:Q93.5 OMIM:182290 ORDO:819 17p11.2 microdeletion syndrome chromosome 17p11.2 deletion syndrome DOID:0060768 Smith-Magenis syndrome A chromosome deletion syndrome characterized by mild-to-moderate infantile hypotonia, minor skeletal anomalies, prepubertal short stature, brachydactyly, ophthalmologic and otolaryngologic abnormalities, peripheral neuropathy, developmental delay, cognitive impairment, and behavioral abnormalities that has_material basis_in a 3.7-Mb interstitial deletion in chromosome 17p11.2 or sometimes by mutations in the RAI1 gene in the same region. url:https://www.ncbi.nlm.nih.gov/books/NBK1310/ url:https://www.ncbi.nlm.nih.gov/pubmed/16845274 url:https://www.ncbi.nlm.nih.gov/pubmed/21844811 url:https://www.ncbi.nlm.nih.gov/pubmed/6745947 A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has_material_basis_in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12. ICD10CM:D82.8 OMIM:601705 ORDO:169095 alymphoid cystic thymic dysgenesis severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome winged helix deficiency DOID:0060769 T-cell immunodeficiency, congenital alopecia, and nail dystrophy A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has_material_basis_in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12. url:https://ghr.nlm.nih.gov/condition/t-cell-immunodeficiency-congenital-alopecia-and-nail-dystrophy url:https://www.ncbi.nlm.nih.gov/pubmed/10206641 url:https://www.ncbi.nlm.nih.gov/pubmed/8911612 A congenital heart disease characterized by complete inversion of the great vessels where the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. ICD10CM:Q20.3 OMIM:PS608808 ORDO:860 D-TGA congenitally uncorrected transposition of the great arteries congenitally uncorrected transposition of the great vessels isolated ventriculoarterial discordance ventriculoarterial discordance with atrioventricular concordance DOID:0060770 dextro-looped transposition of the great arteries A congenital heart disease characterized by complete inversion of the great vessels where the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. url:https://www.ncbi.nlm.nih.gov/pubmed/11799476 A dextro-looped transposition of the great arteries that has_material_basis_in heterozygous missense mutation in the MED13L gene on chromosome 12q24. ICD10CM:Q20.3 OMIM:608808 DTGA1 DOID:0060771 dextro-looped transposition of the great arteries 1 A dextro-looped transposition of the great arteries that has_material_basis_in heterozygous missense mutation in the MED13L gene on chromosome 12q24. url:https://www.ncbi.nlm.nih.gov/pubmed/14638541 A dextro-looped transposition of the great arteries that has_material_basis_in heterozygous mutation in the GDF1 gene on chromosome 19p13. ICD10CM:Q20.3 OMIM:613854 DTGA3 DOID:0060772 dextro-looped transposition of the great arteries 3 A dextro-looped transposition of the great arteries that has_material_basis_in heterozygous mutation in the GDF1 gene on chromosome 19p13. url:https://www.ncbi.nlm.nih.gov/pubmed/17924340 An autosomal recessive disease characterized by cleft lip, cleft palate, hypodontia, anodontia, microdontia, syndactyly, palmoplantar hyperkeratosis, onychodysplasia, and sparse hair that has_material_basis_in homozygous mutation in the NECTIN1 gene on chromosome 11q23. OMIM:225060 ORDO:3253 CLPED1 Margarita type of ectodermal dysplasia Zlotogora-Zilberman-Tenenbaum syndrome cleft lip/palate-syndactyly-pili torti syndrome syndactyly-ectodermal dysplasia-cleft/lip palate DOID:0060773 cleft lip-palate-ectodermal dysplasia syndrome An autosomal recessive disease characterized by cleft lip, cleft palate, hypodontia, anodontia, microdontia, syndactyly, palmoplantar hyperkeratosis, onychodysplasia, and sparse hair that has_material_basis_in homozygous mutation in the NECTIN1 gene on chromosome 11q23. url:https://www.ncbi.nlm.nih.gov/pubmed/3035184 url:https://www.ncbi.nlm.nih.gov/pubmed/9758630 A diarrhea characterized by frequent loose or liquid bowel movements where the disease is present from birth. OMIM:PS214700 DOID:0060774 congenital diarrhea A congenital diarrhea characterized by onset of intractable life-threatening watery diarrhea during infancy, lack of microvilli on the surface of enterocytes and occurrence of intracellular vacuolar structures containing microvilli that has_material_basis_in homozygous or compound heterozygous mutation in the MYO5B gene on chromosome 18q21. ICD10CM:P78.3 OMIM:251850 ORDO:2290 Davidson disease MVD congenital familial protracted diarrhea with enterocyte brush-border abnormalities congenital microvillus atrophy diarrhea 2 with microvillus atrophy intractable diarrhea of infancy DOID:0060775 microvillus inclusion disease A congenital diarrhea characterized by onset of intractable life-threatening watery diarrhea during infancy, lack of microvilli on the surface of enterocytes and occurrence of intracellular vacuolar structures containing microvilli that has_material_basis_in homozygous or compound heterozygous mutation in the MYO5B gene on chromosome 18q21. url:https://www.ncbi.nlm.nih.gov/pubmed/18724368 A congenital diarrhea characterized by intractable diarrhea of infancy with villous atrophy, absence of inflammation, and intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum that has_material_basis_in homozygous or compound heterozygous mutation in the EPCAM gene on chromosome 2p21. ICD10CM:P78.3 OMIM:613217 ORDO:92050 DIAR5 congenital familial intractable diarrhea with epithelial or epithelium abnormalities congenital tufting enteropathy tufting enteropathy DOID:0060776 congenital diarrhea 5 with tufting enteropathy A congenital diarrhea characterized by intractable diarrhea of infancy with villous atrophy, absence of inflammation, and intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum that has_material_basis_in homozygous or compound heterozygous mutation in the EPCAM gene on chromosome 2p21. url:https://www.ncbi.nlm.nih.gov/pubmed/18572020 url:https://www.ncbi.nlm.nih.gov/pubmed/23462293 A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC9A3 gene on chromosome 5p15. ICD10CM:P78.3 OMIM:616868 ORDO:103908 DIAR8 DOID:0060777 congenital secretory sodium diarrhea 8 A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC9A3 gene on chromosome 5p15. url:https://www.ncbi.nlm.nih.gov/pubmed/26358773 A congenital diarrhea characterized by watery diarrhea, protein-losing enteropathy, patchy areas of dystrophic microvilli in the duodenum and patchy areas of villous atrophy that has_material_basis_in homozygous mutation in the DGAT1 gene on chromosome 8q24.3. ICD10CM:P78.3 OMIM:615863 ORDO:329242 congenital chronic diarrhea with exudative enteropathy congenital chronic diarrhea with protein-losing enteropathy DOID:0060778 congenital diarrhea 7 with exudative enteropathy A congenital diarrhea characterized by watery diarrhea, protein-losing enteropathy, patchy areas of dystrophic microvilli in the duodenum and patchy areas of villous atrophy that has_material_basis_in homozygous mutation in the DGAT1 gene on chromosome 8q24.3. url:https://www.ncbi.nlm.nih.gov/pubmed/23114594 A congenital diarrhea characterized by chronic unremitting malabsorptive diarrhea and a profound dysgenesis of the enteroendocrine cells that has_material_basis_in mutation in the gene encoding neurogenin-3 (NEUROG3) on chromosome 10q21.3. ICD10CM:P78.3 OMIM:610370 ORDO:83620 congenital malabsorptive diarrhea due to paucity of enteroendocrine cells enteric anendocrinosis DOID:0060779 congenital malabsorptive diarrhea 4 A congenital diarrhea characterized by chronic unremitting malabsorptive diarrhea and a profound dysgenesis of the enteroendocrine cells that has_material_basis_in mutation in the gene encoding neurogenin-3 (NEUROG3) on chromosome 10q21.3. url:https://www.ncbi.nlm.nih.gov/pubmed/16855267 A congenital diarrhea characterized by mild, early-onset chronic diarrhea that has_material_basis_in heterozygous mutation in the GUCY2C gene on chromosome 12p12. ICD10CM:P78.3 OMIM:614616 ORDO:314373 chronic diarrhea due to guanylate cyclase 2C overactivity DOID:0060780 congenital diarrhea 6 A congenital diarrhea characterized by mild, early-onset chronic diarrhea that has_material_basis_in heterozygous mutation in the GUCY2C gene on chromosome 12p12. urL:https://www.ncbi.nlm.nih.gov/pubmed/22436048 A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SPINT2 gene on chromosome 19q13. ICD10CM:P78.3 OMIM:270420 ORDO:103908 congenital secretory sodium diarrhea 3 syndromic congenital secretory sodium diarrhea 3 with or without other congenital anomalies DOID:0060781 congenital secretory sodium diarrhea 3 A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SPINT2 gene on chromosome 19q13. url:https://www.ncbi.nlm.nih.gov/pubmed/19185281 An autosomal dominant disease characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate). ICD10CM:Q82.4 ORDO:1896 UMLS_CUI:C0406704 Rudiger syndrome 1 Walker-Clodius syndrome ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome ectrodactyly-ectodermal dysplasia-clefting syndrome DOID:0060782 EEC syndrome An autosomal dominant disease characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate). url:https://rarediseases.info.nih.gov/diseases/2076/eec-syndrome An EEC syndrome characterized by autosomal dominant inheritance of absence of the central parts of the hands and feet, resulting in split-hand/foot malformation, ectodermal dysplasia, and cleft lip with or without cleft palate that has_material basis in heterozygous mutation in the TP63 gene on chromosome 3q28. ICD10CM:Q82.4 OMIM:604292 ORDO:1896 UMLS_CUI:C0406704 EEC syndrome 3 EEC3 DOID:0060783 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 An EEC syndrome characterized by autosomal dominant inheritance of absence of the central parts of the hands and feet, resulting in split-hand/foot malformation, ectodermal dysplasia, and cleft lip with or without cleft palate that has_material basis in heterozygous mutation in the TP63 gene on chromosome 3q28. url:https://www.ncbi.nlm.nih.gov/pubmed/10535733 url:https://www.ncbi.nlm.nih.gov/pubmed/8737655 An EEC syndrome characterized by autosomal dominant inheritance that has_material basis in variation in the chromosome region 7q11.2-q21.3. ICD10CM:Q82.4 OMIM:129900 ORDO:1896 UMLS_CUI:C0406704 EEC syndrome 1 EEC1 DOID:0060784 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 An EEC syndrome characterized by autosomal dominant inheritance that has_material basis in variation in the chromosome region 7q11.2-q21.3. url:https://www.ncbi.nlm.nih.gov/pubmed/1424230 url:https://www.ncbi.nlm.nih.gov/pubmed/5454938 A leukodystrophy characterized by onset in the 4th or 5th decade of life of autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS that has_material_basis_in heterozygous tandem genomic duplication resulting in an extra copy of the LMNB1 gene on chromosome 5q. ICD10CM:E75.2 OMIM:169500 ORDO:99027 UMLS_CUI:C3164344 ADLD adult-onset autosomal dominant leukodystrophy autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease DOID:0060785 adult-onset autosomal dominant demyelinating leukodystrophy A leukodystrophy characterized by onset in the 4th or 5th decade of life of autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS that has_material_basis_in heterozygous tandem genomic duplication resulting in an extra copy of the LMNB1 gene on chromosome 5q. url:https://www.ncbi.nlm.nih.gov/pubmed/16951681 url:https://www.ncbi.nlm.nih.gov/pubmed/19151023 A leukodystrophy characterized by T2 hyperintensity and T1 iso- or hyperintensity of affected white matter in the central nervous system. OMIM:PS312080 HLD DOID:0060786 hypomyelinating leukodystrophy A leukodystrophy characterized by T2 hyperintensity and T1 iso- or hyperintensity of affected white matter in the central nervous system. url:https://en.wikipedia.org/wiki/Leukodystrophy url:https://www.ncbi.nlm.nih.gov/books/NBK184570/ A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the GJC2 gene on chromosome 1q42. ICD10CM:E75.2 OMIM:608804 ORDO:280282 HLD2 PMLD1 Pelizaeus-Merzbacher-like disease 1 Pelizaeus-Merzbacher-like disease due to GJC2 mutation DOID:0060787 hypomyelinating leukodystrophy 2 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the GJC2 gene on chromosome 1q42. url:https://www.ncbi.nlm.nih.gov/pubmed/15192806 url:https://www.ncbi.nlm.nih.gov/pubmed/18094336 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of progressive postnatal microcephaly, severely delayed psychomotor development and hypomyelination that has_material_basis_in homozygous mutation in the PYCR2 gene on chromosome 1q42. OMIM:616420 HLD10 DOID:0060788 hypomyelinating leukodystrophy 10 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of progressive postnatal microcephaly, severely delayed psychomotor development and hypomyelination that has_material_basis_in homozygous mutation in the PYCR2 gene on chromosome 1q42. url:https://www.ncbi.nlm.nih.gov/pubmed/25865492 url:https://www.ncbi.nlm.nih.gov/pubmed/27130255 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hypotonia, nystagmus, psychomotor developmental delay, and severe hypomyelinating leukoencephalopathy that has_material_basis_in homozygous mutation in the HSPD1 gene on chromosome 2q33. ICD10CM:E75.2 OMIM:612233 ORDO:280288 HLD4 MitCHAP60 disease Pelizaeus-Merzbacher-like disease due to HSPD1 mutation mitochondrial HSP60 chaperonopathy DOID:0060789 hypomyelinating leukodystrophy 4 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hypotonia, nystagmus, psychomotor developmental delay, and severe hypomyelinating leukoencephalopathy that has_material_basis_in homozygous mutation in the HSPD1 gene on chromosome 2q33. url:https://www.ncbi.nlm.nih.gov/pubmed/18571143 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system that has_material_basis_in homozygous mutation in the AIMP1 gene on chromosome 4q24. ICD10CM:E75.2 OMIM:260600 ORDO:280293 HLD3 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation DOID:0060790 hypomyelinating leukodystrophy 3 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system that has_material_basis_in homozygous mutation in the AIMP1 gene on chromosome 4q24. url:https://www.ncbi.nlm.nih.gov/pubmed/21092922 url:https://www.ncbi.nlm.nih.gov/pubmed/24958424 A hypomyelinating leukodystrophy characterized by delayed psychomotor development, spasticity, and nystagmus starting in the first year of life that has_material_basis_in compound heterozygous mutation in the RARS gene on chromosome 5q34. ICD10CM:E75.2 OMIM:616140 ORDO:438114 HLD9 RARS-related autosomal recessive hypomyelinating leukodystrophy DOID:0060791 hypomyelinating leukodystrophy 9 A hypomyelinating leukodystrophy characterized by delayed psychomotor development, spasticity, and nystagmus starting in the first year of life that has_material_basis_in compound heterozygous mutation in the RARS gene on chromosome 5q34. url:https://www.ncbi.nlm.nih.gov/pubmed/24777941 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of delayed psychomotor development and other neurologic features associated with hypomyelination that has_material_basis_in homozygous or compound heterozygous mutation in the POLR1C gene on chromosome 6p21. ICD10CM:G11.1 OMIM:616494 HLD11 DOID:0060792 hypomyelinating leukodystrophy 11 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of delayed psychomotor development and other neurologic features associated with hypomyelination that has_material_basis_in homozygous or compound heterozygous mutation in the POLR1C gene on chromosome 6p21. url:https://www.ncbi.nlm.nih.gov/pubmed/26151409 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency that has_material_basis_in homozygous mutation in the FAM126A gene on chromosome 7p15. ICD10CM:G37.8 OMIM:610532 ORDO:85163 HLD5 hypomyelination-congenital cataract syndrome DOID:0060793 hypomyelinating leukodystrophy 5 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency that has_material_basis_in homozygous mutation in the FAM126A gene on chromosome 7p15. url:https://www.ncbi.nlm.nih.gov/pubmed/16951682 url:https://www.ncbi.nlm.nih.gov/pubmed/17683097 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hildhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression that has_material_basis_in homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22. ICD10CM:G11.1 OMIM:607694 ORDO:137639 ORDO:447893 ORDO:447896 ORDO:77295 HLD7 TACH syndrome ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy dentoleukoencephalopathy hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome leukodystrophy with oligodontia leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome tremor-ataxia-central hypomyelination syndrome DOID:0060794 hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hildhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression that has_material_basis_in homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22. url:https://www.ncbi.nlm.nih.gov/pubmed/12605447 url:https://www.ncbi.nlm.nih.gov/pubmed/21855841 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities that has_material_basis_in homozygous mutation in the C11ORF73 gene on chromosome 11q14. OMIM:616881 HLD13 DOID:0060795 hypomyelinating leukodystrophy 13 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities that has_material_basis_in homozygous mutation in the C11ORF73 gene on chromosome 11q14. url:https://www.ncbi.nlm.nih.gov/pubmed/26545878 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of severely delayed or even lack of psychomotor development that becomes apparent in the first months of life, acquired microcephaly and delayed myelination that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23. OMIM:616683 HLD12 DOID:0060796 hypomyelinating leukodystrophy 12 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of severely delayed or even lack of psychomotor development that becomes apparent in the first months of life, acquired microcephaly and delayed myelination that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23. url:https://www.ncbi.nlm.nih.gov/pubmed/26307567 url:https://www.ncbi.nlm.nih.gov/pubmed/27120463 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early childhood onset of cerebellar ataxia, mild intellectual disabilities associated with diffuse hypomyelination and variable development of oligodontia and/or hypogonadotropic hypogonadism that has_material_basis_in compound heterozygous mutation in the POLR3B gene on chromosome 12q23. ICD10CM:G11.1 OMIM:614381 HLD8 DOID:0060797 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early childhood onset of cerebellar ataxia, mild intellectual disabilities associated with diffuse hypomyelination and variable development of oligodontia and/or hypogonadotropic hypogonadism that has_material_basis_in compound heterozygous mutation in the POLR3B gene on chromosome 12q23. url:https://www.ncbi.nlm.nih.gov/pubmed/22036171 url:https://www.ncbi.nlm.nih.gov/pubmed/22036172 A hypomyelinating leukodystrophy characterized by infant or early childhood onset of delayed motor development and gait instability, followed by extrapyramidal movement disorders, progressive spastic tetraplegia, ataxia, hypomyelination, cerebellar atrophy, and atrophy or disappearance of the putamen that has_material_basis_in heterozygous mutation in the TUBB4A gene on chromosome 19p13. ICD10CM:E75.2 OMIM:612438 ORDO:139441 H-ABC HABC HLD6 hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum hypomyelination with atrophy of basal ganglia and cerebellum DOID:0060798 hypomyelinating leukodystrophy 6 A hypomyelinating leukodystrophy characterized by infant or early childhood onset of delayed motor development and gait instability, followed by extrapyramidal movement disorders, progressive spastic tetraplegia, ataxia, hypomyelination, cerebellar atrophy, and atrophy or disappearance of the putamen that has_material_basis_in heterozygous mutation in the TUBB4A gene on chromosome 19p13. url:https://www.ncbi.nlm.nih.gov/pubmed/23582646 A syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections in males that has_material_basis_in duplication or triplication of the MECP2 gene on chromosome Xq28. ICD10CM:Q87.8 MESH:C537723 OMIM:300260 ORDO:85281 UMLS_CUI:C1846058 Lubs X-linked mental retardation syndrome MECP2 duplication syndrome MRXSL X-linked intellectual disability-hypotonia-recurrent Infections syndrome mental retardation, X-linked, syndromic, Lubs type mental retardation, X-linked, with recurrent respiratory infections DOID:0060799 syndromic X-linked intellectual disability Lubs type A syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections in males that has_material_basis_in duplication or triplication of the MECP2 gene on chromosome Xq28. url:https://www.ncbi.nlm.nih.gov/pubmed/15689435 url:https://www.ncbi.nlm.nih.gov/pubmed/20425814 A syndromic X-linked intellectual disability characterized by intellectual disability and variable features including; choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain that has_material_basis_in mutation in the AP1S2 gene on chromosome Xp22. ICD10CM:Q87.8 OMIM:304340 ORDO:1568 ORDO:85335 UMLS_CUI:C0796254 Fried syndrome MRX59 MRXS21 Mental retardation, X-linked syndromic 5 Pettigrew syndrome X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome X-linked mental retardation 59 X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures syndromic X-linked mental retardation 21 syndromic X-linked mental retardation Fried type DOID:0060800 syndromic X-linked intellectual disability 5 A syndromic X-linked intellectual disability characterized by intellectual disability and variable features including; choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain that has_material_basis_in mutation in the AP1S2 gene on chromosome Xp22. url:https://www.ncbi.nlm.nih.gov/pubmed/19377476 url:https://www.ncbi.nlm.nih.gov/pubmed/23756445 A syndromic X-linked intellectual disability characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism and obesity with variable occurrence of growth delay and diabetes that has_material_basis_in variation in the chromosome region Xp22.13-p21.1. ICD10CM:Q87.8 MESH:C537451 OMIM:300148 ORDO:85282 UMLS_CUI:C2931496 MRXS20 MRXS25 X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity syndromic X-linked mental retardation 20 syndromic X-linked mental retardation 25 DOID:0060801 MEHMO syndrome A syndromic X-linked intellectual disability characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism and obesity with variable occurrence of growth delay and diabetes that has_material_basis_in variation in the chromosome region Xp22.13-p21.1. url:https://www.ncbi.nlm.nih.gov/pubmed/12032729 url:https://www.ncbi.nlm.nih.gov/pubmed/9781023 A syndromic X-linked intellectual disability characterized by mild to profound intellectual disability, facial asymmetry, marfanoid habitus, asthenic habitus, unsteady gait, thickened lower lip, nasal dysarthic speech, narrow or cleft palate, osteoporosis, kyphoscoliosis, long great toes, short stature, pectus carinatum, and myopia that has_material_basis_in mutation in the SMS gene on chromosome Xp22. ICD10CM:Q87.8 OMIM:309583 ORDO:3063 SRS Snyder-Robinson mental retardation syndrome Snyder-Robinson syndrome mental retardation, X-linked, Snyder-Robinson type spermine synthase deficiency DOID:0060802 syndromic X-linked intellectual disability Snyder type A syndromic X-linked intellectual disability characterized by mild to profound intellectual disability, facial asymmetry, marfanoid habitus, asthenic habitus, unsteady gait, thickened lower lip, nasal dysarthic speech, narrow or cleft palate, osteoporosis, kyphoscoliosis, long great toes, short stature, pectus carinatum, and myopia that has_material_basis_in mutation in the SMS gene on chromosome Xp22. url:https://www.ncbi.nlm.nih.gov/pubmed/14508504 url:https://www.ncbi.nlm.nih.gov/pubmed/23696453 A syndromic X-linked intellectual disability characterized by global developmental delay, delayed motor development, lack of speech development, intellectual disability, alacrima and in some patients achalasia and/or anisocoria that has_material_basis_in variation in the chromosome region Xp21.1-p11.23. OMIM:300858 ORDO:289483 X-linked mental retardation with alacrima and achalasia intellectual disability-alacrima-achalasia syndrome mental retardation, X-linked, syndromic 17 DOID:0060803 syndromic X-linked intellectual disability 17 A syndromic X-linked intellectual disability characterized by global developmental delay, delayed motor development, lack of speech development, intellectual disability, alacrima and in some patients achalasia and/or anisocoria that has_material_basis_in variation in the chromosome region Xp21.1-p11.23. url:https://www.ncbi.nlm.nih.gov/pubmed/21744492 A syndromic X-linked intellectual disability characterized by severe intellectual deficit, mutism, epilepsy, growth retardation or failure and recurrent infections that has_material_basis_in variation in the chromosome region Xp11. ICD10CM:Q87.8 OMIM:309545 ORDO:85290 X-linked intellectual disability, Wilson type mental retardation, X-linked, syndromic 12 DOID:0060804 syndromic X-linked intellectual disability 12 A syndromic X-linked intellectual disability characterized by severe intellectual deficit, mutism, epilepsy, growth retardation or failure and recurrent infections that has_material_basis_in variation in the chromosome region Xp11. url:https://www.ncbi.nlm.nih.gov/pubmed/1357179 A syndromic X-linked intellectual disability characterized by intellectual disability, facial dysmorphism, patella luxation, clinodactyly, subcortical cerebral atrophy, and abnormal growth of the teeth that has_material_basis_in variation in the chromosome region Xp11-q21. OMIM:309610 ORDO:2958 Prieto-Badia-Mulas syndrome X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome DOID:0060805 Prieto syndrome A syndromic X-linked intellectual disability characterized by intellectual disability, facial dysmorphism, patella luxation, clinodactyly, subcortical cerebral atrophy, and abnormal growth of the teeth that has_material_basis_in variation in the chromosome region Xp11-q21. url:https://www.ncbi.nlm.nih.gov/pubmed/1673297 url:https://www.ncbi.nlm.nih.gov/pubmed/3121220 A syndromic X-linked intellectual disability characterized by mild to moderate mental retardation and epilepsy that has_material_basis_in mutation in the ATP6AP2 gene on chromosome Xp11. OMIM:300423 ORDO:93952 MRXE MRXSH X-linked mental retardation with epilepsy mental retardation, X-linked, syndromic, Hedera type DOID:0060806 syndromic X-linked intellectual disability Hedera type A syndromic X-linked intellectual disability characterized by mild to moderate mental retardation and epilepsy that has_material_basis_in mutation in the ATP6AP2 gene on chromosome Xp11. url:https://www.ncbi.nlm.nih.gov/pubmed/11782983 url:https://www.ncbi.nlm.nih.gov/pubmed/15746149 A syndromic X-linked intellectual disability characterized by severe intellectual disability, microcephaly with pontine and cerebellar hypoplasia that has_material_basis_in heterozygous mutation or deletion in the CASK gene on chromosome Xp11. ICD10CM:Q04.3 OMIM:300749 ORDO:163937 MICPCH X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome mental retardation and microcephaly with pontine and cerebellar hypoplasia DOID:0060807 syndromic X-linked intellectual disability Najm type A syndromic X-linked intellectual disability characterized by severe intellectual disability, microcephaly with pontine and cerebellar hypoplasia that has_material_basis_in heterozygous mutation or deletion in the CASK gene on chromosome Xp11. url:https://www.ncbi.nlm.nih.gov/pubmed/19165920 url:https://www.ncbi.nlm.nih.gov/pubmed/21954287 A syndromic X-linked intellectual disability characterized by intellectual deficit, obesity, hypogonadism, and tapering fingers that has_material_basis_in variation in the chromosome region Xp11.3-q22. ICD10CM:Q87.8 MESH:C537449 OMIM:300218 ORDO:85274 UMLS_CUI:C1846170 MRXS7 X-linked intellectual disability, Ahmad type mental retardation, X-linked syndromic 7 DOID:0060808 syndromic X-linked intellectual disability 7 A syndromic X-linked intellectual disability characterized by intellectual deficit, obesity, hypogonadism, and tapering fingers that has_material_basis_in variation in the chromosome region Xp11.3-q22. url:https://www.ncbi.nlm.nih.gov/pubmed/10573017 A syndromic X-linked intellectual disability characterized by severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioural problems that has_material_basis_in mutation in the KDM5C gene on chromosome Xp11. ICD10CM:Q87.8 OMIM:300534 ORDO:85279 MRXSCJ MRXSJ mental retardation, X-linked, syndromic, Claes-Jensen type syndromic X-linked intellectual disability due to JARID1C mutation syndromic X-linked mental retardation JARID1C-related DOID:0060809 syndromic X-linked intellectual disability Claes-Jensen type A syndromic X-linked intellectual disability characterized by severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioural problems that has_material_basis_in mutation in the KDM5C gene on chromosome Xp11. url:https://www.ncbi.nlm.nih.gov/pubmed/10982473 url:https://www.ncbi.nlm.nih.gov/pubmed/15586325 A syndromic X-linked intellectual disability characterized by mild intellectual deficit associated with choreoathetosis and abnormal behaviour that has_material_basis_in mutation in the HSD17B10 gene on chromosome Xp11.22. ICD10CM:G25.5 OMIM:300220 ORDO:85295 X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome HSD10 deficiency, atypical type HSD10 disease, atypical type MRXS10 mental retardation, X-linked syndromic 10 DOID:0060810 syndromic X-linked intellectual disability type 10 A syndromic X-linked intellectual disability characterized by mild intellectual deficit associated with choreoathetosis and abnormal behaviour that has_material_basis_in mutation in the HSD17B10 gene on chromosome Xp11.22. url:https://www.ncbi.nlm.nih.gov/pubmed/10521307 url:https://www.ncbi.nlm.nih.gov/pubmed/17236142 A syndromic X-linked intellectual disability characterized by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls, macrocephaly, and holoprosencephaly present in some cases that has_material_basis_in mutation in the HUWE1 gene on chromosome Xp11.22. ICD10CM:Q87.8 OMIM:300706 ORDO:85328 MRXST mental retardation and macrocephaly syndrome mental retardation, X-linked syndromic, Turner type DOID:0060811 syndromic X-linked intellectual disability Turner type A syndromic X-linked intellectual disability characterized by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls, macrocephaly, and holoprosencephaly present in some cases that has_material_basis_in mutation in the HUWE1 gene on chromosome Xp11.22. url:https://www.ncbi.nlm.nih.gov/pubmed/18252223 url:https://www.ncbi.nlm.nih.gov/pubmed/7943042 A syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability, long face and a broad nasal tip with in some cases cleft lip/palate, preaxial polydactyly and cryptorchidism that has_material_basis_in mutation in the PHF8 gene on chromosome Xp11.22. ICD10CM:Q87.8 MESH:C537333 OMIM:300263 ORDO:85287 UMLS_CUI:C1846055 MRXSSD Siderius X-linked mental retardation syndrome Siderius-Hamel syndrome mental retardation syndrome, X-linked, Siderius type DOID:0060812 syndromic X-linked intellectual disability Siderius type A syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability, long face and a broad nasal tip with in some cases cleft lip/palate, preaxial polydactyly and cryptorchidism that has_material_basis_in mutation in the PHF8 gene on chromosome Xp11.22. url:https://www.ncbi.nlm.nih.gov/pubmed/10398231 url:https://www.ncbi.nlm.nih.gov/pubmed/16199551 A syndromic X-linked intellectual disability characterized by evere mental retardation, microcephaly, speech delay and variable short stature that has_material_basis_in variation in the chromosomal region Xq12-q21.31. ICD10CM:Q87.8 OMIM:300709 ORDO:85324 MRXS9 mental retardation, X-linked, syndromic 9 DOID:0060813 syndromic X-linked intellectual disability Shrimpton type A syndromic X-linked intellectual disability characterized by evere mental retardation, microcephaly, speech delay and variable short stature that has_material_basis_in variation in the chromosomal region Xq12-q21.31. url:https://www.ncbi.nlm.nih.gov/pubmed/10331611 url:https://www.ncbi.nlm.nih.gov/pubmed/10797443 A syndromic X-linked intellectual disability characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature that has_material_basis_in hemizygous mutation in the LAS1L gene on chromosome Xq12. OMIM:309585 ORDO:3459 MRXS6 WTS X-linked intellectual disability-gynecomastia-obesity syndrome mental retardation, X-linked, syndromic 6 mental retardation, X-linked, with gynecomastia and obesity DOID:0060814 Wilson-Turner syndrome A syndromic X-linked intellectual disability characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature that has_material_basis_in hemizygous mutation in the LAS1L gene on chromosome Xq12. url:https://www.ncbi.nlm.nih.gov/pubmed/1746601 url:https://www.ncbi.nlm.nih.gov/pubmed/25644381 A syndromic X-linked intellectual disability characterized by severe intellectual deficit, microcephaly, exotropia, distal muscle wasting and low digital arches that has_material_basis_in variation in chromosomal region Xq13-q22. ICD10CM:Q87.8 MESH:C537472 OMIM:309605 ORDO:85283 UMLS_CUI:C1839735 MCS MRXS4 X-linked intellectual disability, Miles-Carpenter type mental retardation, X-linked, syndromic 4 mental retardation, X-linked, with congenital contractures and low fingertip arches DOID:0060815 Miles-Carpenter syndrome A syndromic X-linked intellectual disability characterized by severe intellectual deficit, microcephaly, exotropia, distal muscle wasting and low digital arches that has_material_basis_in variation in chromosomal region Xq13-q22. url:https://www.ncbi.nlm.nih.gov/pubmed/2018061 A syndromic X-linked intellectual disability characterized by agenesis of the corpus callosum, intellectual disability, ocular coloboma, micrognathia, sensorineural hearing loss, skeletal anomalies, and short stature that has_material_basis_in mutation in the IGBP1 gene on chromosome Xq13.1. ICD10CM:Q87.8 OMIM:300472 ORDO:52055 Graham-Cox syndrome MRXS28 corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia mental retardation, X-linked, syndromic 28 DOID:0060816 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome A syndromic X-linked intellectual disability characterized by agenesis of the corpus callosum, intellectual disability, ocular coloboma, micrognathia, sensorineural hearing loss, skeletal anomalies, and short stature that has_material_basis_in mutation in the IGBP1 gene on chromosome Xq13.1. url:https://www.ncbi.nlm.nih.gov/pubmed/14556245 A syndromic X-linked intellectual disability characterized by delayed psychomotor development, intellectual disability, impaired speech, dysmorphic facial features, and mild structural brain abnormalities, including thickening of the corpus callosum that has_material_basis_in mutation in the NONO gene on chromosome Xq13. OMIM:300967 ORDO:466791 MRXS34 MRXSML macrocephaly-intellectual disability-left ventricular non compaction syndrome mental retardation, X-linked, syndromic 34 syndromic X-linked mental retardation Mircsof-Langouet type DOID:0060817 syndromic X-linked intellectual disability 34 A syndromic X-linked intellectual disability characterized by delayed psychomotor development, intellectual disability, impaired speech, dysmorphic facial features, and mild structural brain abnormalities, including thickening of the corpus callosum that has_material_basis_in mutation in the NONO gene on chromosome Xq13. url:https://www.ncbi.nlm.nih.gov/pubmed/26571461 macrocephaly-intellectual disability-left ventricular non compaction syndrome ORDO:466791 A syndromic X-linked intellectual disability characterized by intellectual disability with variable occurrence of short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes that has_material_basis_in variation in the chromosomal region Xq13.2. ICD10CM:Q87.8 MESH:C535556 OMIM:300262 ORDO:85273 UMLS_CUI:C1846056 MRXSAB mental retardation, X-linked syndromic, Abidi type syndromic X-linked mental retardation Abidi type DOID:0060818 syndromic X-linked intellectual disability Abidi type A syndromic X-linked intellectual disability characterized by intellectual disability with variable occurrence of short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes that has_material_basis_in variation in the chromosomal region Xq13.2. url:https://www.ncbi.nlm.nih.gov/pubmed/10398233 A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has_material_basis_in variation in the chromosomal region Xq21.33-q23. OMIM:300861 X-linked mental retardation with seizures, hypogammaglobinemia, and gait disturbance MRXSCS mental retardation, X-linked, syndromic, Chudley-Schwartz type DOID:0060819 syndromic X-linked intellectual disability Chudley-Schwartz type A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has_material_basis_in variation in the chromosomal region Xq21.33-q23. url:https://www.ncbi.nlm.nih.gov/pubmed/10398239 A syndromic X-linked intellectual disability characterized by intellectual disability with dysmorphic features, including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth, myxedematous appearance, hirsutism, abnormal hair whorls, micropenis, and onychodystrophy that has_material_basis_in mutation in the UBE2A gene on chromosome Xq24. ICD10CM:Q87.8 OMIM:300860 ORDO:163956 X-linked intellectual disability-nail dystrophy-seizures syndrome mental retardation, X-linked syndromic, Nascimento-type DOID:0060820 syndromic X-linked intellectual disability Nascimento type A syndromic X-linked intellectual disability characterized by intellectual disability with dysmorphic features, including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth, myxedematous appearance, hirsutism, abnormal hair whorls, micropenis, and onychodystrophy that has_material_basis_in mutation in the UBE2A gene on chromosome Xq24. url:https://www.ncbi.nlm.nih.gov/pubmed/16909393 url:https://www.ncbi.nlm.nih.gov/pubmed/20412111 A syndromic X-linked intellectual disability characterized by mild to severe intellectual disability, autistic features, slender build, poor musculature, long, thin face, high-arched palate, high nasal bridge, and pectus deformities that has_material_basis_in mutation in the UPF3B gene on chromosome Xq24. ICD10CM:Q87.8 MESH:C537923 OMIM:300676 ORDO:323 ORDO:776 UMLS_CUI:C0796022 mental retardation, X-linked, syndromic 14 DOID:0060821 syndromic X-linked intellectual disability 14 A syndromic X-linked intellectual disability characterized by mild to severe intellectual disability, autistic features, slender build, poor musculature, long, thin face, high-arched palate, high nasal bridge, and pectus deformities that has_material_basis_in mutation in the UPF3B gene on chromosome Xq24. url:https://www.ncbi.nlm.nih.gov/pubmed/17704778 url:https://www.ncbi.nlm.nih.gov/pubmed/22957832 A syndromic X-linked intellectual disability characterized by intellectual deficit, muscle wasting, short stature, hypogonadism, and bnormal gait, with variable occurrence of prominent lower lip, kyphosis, joint hyperextensibility, tremor, decreased fine motor coordination and impaired speech that has_material_basis_in mutation in the CUL4B gene on chromosome Xq23. ICD10CM:Q87.8 OMIM:300354 ORDO:85293 Cabezas syndrome; syndromic X-linked mental retardation 15 MRSS MRXS15 MRXSC X-linked mental retardation with short stature X-linked mental retardation with short stature, hypogonadism, and abnormal gait mental retardation, X-linked, syndromic 15 (Cabezas type) DOID:0060822 syndromic X-linked intellectual disability Cabezas type A syndromic X-linked intellectual disability characterized by intellectual deficit, muscle wasting, short stature, hypogonadism, and bnormal gait, with variable occurrence of prominent lower lip, kyphosis, joint hyperextensibility, tremor, decreased fine motor coordination and impaired speech that has_material_basis_in mutation in the CUL4B gene on chromosome Xq23. url:https://www.ncbi.nlm.nih.gov/pubmed/10978355 url:https://www.ncbi.nlm.nih.gov/pubmed/17236139 A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has_material_basis_in mutation in the GRIA3 gene on chromosome Xq25. ICD10CM:F72 OMIM:300699 ORDO:364028 MRX94 MRXS29 mental retardation, X-linked 94 syndromic X-linked intellectual disability due to GRIA3 anomalies syndromic X-linked mental retardation 29 syndromic X-linked mental retardation Wu type DOID:0060823 syndromic X-linked intellectual disability 94 A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has_material_basis_in mutation in the GRIA3 gene on chromosome Xq25. url:https://www.ncbi.nlm.nih.gov/pubmed/17989220 url:https://www.ncbi.nlm.nih.gov/pubmed/19449417 url:https://www.ncbi.nlm.nih.gov/pubmed/24721225 A syndromic X-linked intellectual disability characterized by intellectual disability and marfanoid habitus that has_material_basis_in mutation in the ZDHHC9 gene on chromosome Xq26.1. ICD10CM:Q87.8 OMIM:300799 ORDO:163953 MRXSR mental retardation, X-linked syndromic, Raymond type DOID:0060824 syndromic X-linked intellectual disability Raymond type A syndromic X-linked intellectual disability characterized by intellectual disability and marfanoid habitus that has_material_basis_in mutation in the ZDHHC9 gene on chromosome Xq26.1. url:https://www.ncbi.nlm.nih.gov/pubmed/17436253 url:https://www.ncbi.nlm.nih.gov/pubmed/19377476 A syndromic X-linked intellectual disability characterized by severe developmental delay, intellectual disability, microcephaly, impaired speech, ataxia, hypotonia and early-onset seizures that has_material_basis_in mutation in the SLC9A6 gene on chromosome Xq26. ICD10CM:Q87.8 MESH:C537450 OMIM:300243 ORDO:85278 UMLS_CUI:C1846130 MRXSCH X-linked Angelman-like syndrome X-linked intellectual disability, South African type X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome mental retardation, X-linked syndromic, Christianson type mental retardation, microcephaly, epilepsy, and ataxia syndrome DOID:0060825 Christianson syndrome A syndromic X-linked intellectual disability characterized by severe developmental delay, intellectual disability, microcephaly, impaired speech, ataxia, hypotonia and early-onset seizures that has_material_basis_in mutation in the SLC9A6 gene on chromosome Xq26. url:https://www.ncbi.nlm.nih.gov/pubmed/18342287 url:https://www.ncbi.nlm.nih.gov/pubmed/20949524 url:https://www.ncbi.nlm.nih.gov/pubmed/25044251 A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies that has_material_basis_in mutation in the RBMX gene on chromosome Xq26. ICD10CM:Q87.8 OMIM:300238 ORDO:85286 MRXS11 SMRXS Shashi X-linked mental retardation syndrome X-linked mental retardation Shashi type mental retardation, X-linked, syndromic 11, Shashi type syndromic X-linked intellectual disability type 11 DOID:0060826 syndromic X-linked intellectual disability Shashi type A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies that has_material_basis_in mutation in the RBMX gene on chromosome Xq26. url:https://www.ncbi.nlm.nih.gov/pubmed/10677307 url:https://www.ncbi.nlm.nih.gov/pubmed/25256757 A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, manic-depressive psychosis, pyramidal signs and macroorchidism that has_material_basis_in mutation in the MECP2 gene on chromosome Xq28. ICD10CM:F71.1 OMIM:300055 ORDO:3077 Lindsay-Burn syndrome MRXS13 PPM-X X-linked mental retardation 79 X-linked mental retardation with spasticity mental retardation with psychosis, pyramidal signs, and macroorchidism mental retardation, X-linked, syndromic 13 DOID:0060827 X-linked intellectual disability-psychosis-macroorchidism syndrome A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, manic-depressive psychosis, pyramidal signs and macroorchidism that has_material_basis_in mutation in the MECP2 gene on chromosome Xq28. url:https://www.ncbi.nlm.nih.gov/pubmed/10986043 url:https://www.ncbi.nlm.nih.gov/pubmed/8651288 A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has_material_basis_in mutation in the CLIC2 gene on chromosome Xq28. OMIM:300886 ORDO:324410 MRXS32 mental retardation, X-linked, syndromic 32 DOID:0060828 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has_material_basis_in mutation in the CLIC2 gene on chromosome Xq28. url:https://www.ncbi.nlm.nih.gov/pubmed/22814392 A syndromic X-linked intellectual disability characterized by intellectual disability, distinct facial appearance and growth retardation that has_material_basis_in variation on the X chromosome. ICD10CM:Q87.8 OMIM:300612 ORDO:3056 X-linked intellectual disability, Brooks type DOID:0060829 Brooks-Wisniewski-Brown syndrome A syndromic X-linked intellectual disability characterized by intellectual disability, distinct facial appearance and growth retardation that has_material_basis_in variation on the X chromosome. url:https://www.ncbi.nlm.nih.gov/pubmed/7943044 A syndromic X-linked intellectual disability characterized by severe bilateral deafness, intellectual disability, umbilical hernia and abnormal dermatoglyphics that has_material_basis_in variation on the X chromosome. ICD10CM:Q87.8 OMIM:300519 ORDO:85321 Martin-Probst syndrome mental retardation, X-linked, syndromic, Martin-Probst type DOID:0060830 deafness-intellectual disability, Martin-Probst type syndrome A syndromic X-linked intellectual disability characterized by severe bilateral deafness, intellectual disability, umbilical hernia and abnormal dermatoglyphics that has_material_basis_in variation on the X chromosome. url:https://www.ncbi.nlm.nih.gov/pubmed/11073537 An autosomal recessive disease characterized by silvery gray sheen of the hair and hypopigmentation of the skin. ICD10CM:E70.3 OMIM:PS214450 ORDO:381 Chédiak-Higashi-like syndrome Griscelli-Pruniéras syndrome partial albinism-immunodeficiency syndrome DOID:0060831 Griscelli syndrome An autosomal recessive disease characterized by silvery gray sheen of the hair and hypopigmentation of the skin. url:https://www.ncbi.nlm.nih.gov/pubmed/12452176 url:https://www.ncbi.nlm.nih.gov/pubmed/707528 A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has_material_basis_in mutations in the MYO5A gene on chromosome 15q21.2. ICD10CM:E70.3 MESH:C537301 OMIM:214450 ORDO:79476 UMLS_CUI:C1859194 GS1 Griscelli syndrome with neurological impairment Griscelli syndrome, cutaneous and neurological type Griscelli-Pruniéras syndrome type 1 hypopigmentation-neurologic impairment syndrome DOID:0060832 Griscelli syndrome type 1 A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has_material_basis_in mutations in the MYO5A gene on chromosome 15q21.2. url:https://www.ncbi.nlm.nih.gov/pubmed/12452176 url:https://www.ncbi.nlm.nih.gov/pubmed/9207796 A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and immunodeficiency with or without neurologic impairment that has_material_basis_in mutation in the RAB27A gene on chromosome 15q21.3. ICD10CM:E70.3 MESH:C537302 OMIM:607624 ORDO:79477 UMLS_CUI:C1868679 GS2 Griscelli syndrome with hemophagocytic syndrome Griscelli-Pruniéras syndrome type 2 PAID syndrome hypopigmentation-immunodeficiency with or without neurologic impairment syndrome partial albinism and immunodeficiency syndrome DOID:0060833 Griscelli syndrome type 2 A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and immunodeficiency with or without neurologic impairment that has_material_basis_in mutation in the RAB27A gene on chromosome 15q21.3. url:https://www.ncbi.nlm.nih.gov/pubmed/12452176 url:https://www.ncbi.nlm.nih.gov/pubmed/707528 A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has_material_basis_in mutation in the MLPH or MYO5A genes. ICD10CM:E70.3 MESH:C537303 OMIM:609227 ORDO:79478 UMLS_CUI:C1836573 GS3 Griscelli-Pruniéras syndrome type 3 DOID:0060834 Griscelli syndrome type 3 A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has_material_basis_in mutation in the MLPH or MYO5A genes. https://www.ncbi.nlm.nih.gov/pubmed/12148598 https://www.ncbi.nlm.nih.gov/pubmed/12897212 A microphthalmia characterized by autosomal recessive inheritance reduction in eye size that is restricted to the posterior segment of the eye, extreme hyperopia, and short axial length that has_material_basis_in homozygous or compound heterozygous mutation in the PRSS56 gene on chromosome 2q37. ICD10CM:Q11.0 OMIM:613517 ORDO:2542 MCOP6 posterior nonsyndromic microphthalmia DOID:0060835 isolated microphthalmia 6 A microphthalmia characterized by autosomal recessive inheritance reduction in eye size that is restricted to the posterior segment of the eye, extreme hyperopia, and short axial length that has_material_basis_in homozygous or compound heterozygous mutation in the PRSS56 gene on chromosome 2q37. url:https://www.ncbi.nlm.nih.gov/pubmed/15823920 url:https://www.ncbi.nlm.nih.gov/pubmed/21397065 A microphthalmia that has_material_basis_in mutation in the GDF6 gene on chromosome 8q22. ICD10CM:Q11.0 OMIM:613094 ORDO:2542 MCOP4 DOID:0060836 isolated microphthalmia 4 A microphthalmia that has_material_basis_in mutation in the GDF6 gene on chromosome 8q22. url:https://www.ncbi.nlm.nih.gov/pubmed/19129173 A microphthalmia characterized by autosomal recessive inheritance of posterior microphthalmia, hypermetropia, night blindness, decreased visual acuity, reduced macular reflex, scleral thickening, impared rod and cone responses on ERG, foveoschisis and in some patients retinal pigment epithelium atrophy, arteriolar attenuation, angle-closure glaucoma and optic disc drusen that has_material_basis_in homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23. ICD10CM:Q15.8 OMIM:611040 ORDO:251279 MCOP5 microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen DOID:0060837 isolated microphthalmia 5 A microphthalmia characterized by autosomal recessive inheritance of posterior microphthalmia, hypermetropia, night blindness, decreased visual acuity, reduced macular reflex, scleral thickening, impared rod and cone responses on ERG, foveoschisis and in some patients retinal pigment epithelium atrophy, arteriolar attenuation, angle-closure glaucoma and optic disc drusen that has_material_basis_in homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23. url:https://www.ncbi.nlm.nih.gov/pubmed/17167404 url:https://www.ncbi.nlm.nih.gov/pubmed/18554571 url:https://www.ncbi.nlm.nih.gov/pubmed/19753314 A microphthalmia characterized by unilateral microphthalmia that has_material_basis_in caused by mutation in the GDF3 gene on chromosome 12p13. ICD10CM:Q11.0 OMIM:613704 ORDO:2542 MCOP7 DOID:0060838 isolated microphthalmia 7 A microphthalmia characterized by unilateral microphthalmia that has_material_basis_in caused by mutation in the GDF3 gene on chromosome 12p13. url:https://www.ncbi.nlm.nih.gov/pubmed/19864492 A microphthalmia characterized by autosomal recessive inheritance of bilateral profound microphthalmia without associated anomalies and with normal intelligence that has_material_basis_in homozygous mutation in the CHX10 gene on chromosome 14q24. ICD10CM:Q11.0 OMIM:610093 ORDO:2542 MCOP2 DOID:0060839 isolated microphthalmia 2 A microphthalmia characterized by autosomal recessive inheritance of bilateral profound microphthalmia without associated anomalies and with normal intelligence that has_material_basis_in homozygous mutation in the CHX10 gene on chromosome 14q24. url:https://www.ncbi.nlm.nih.gov/pubmed/15257456 url:https://www.ncbi.nlm.nih.gov/pubmed/3378363 A microphthalmia that has_material_basis_in variation in the chromosomal region 14q32. ICD10CM:Q11.0 OMIM:251600 ORDO:2542 MCOP1 DOID:0060840 isolated microphthalmia 1 A microphthalmia that has_material_basis_in variation in the chromosomal region 14q32. url:https://www.ncbi.nlm.nih.gov/pubmed/9545413 A microphthalmia characterized by bilateral severe microphthalmia autosomal recessive inheritance of that has_material_basis_in homozygous mutation in the ALDH1A3 gene on chromosome 15q26. ICD10CM:Q11.0 OMIM:615113 ORDO:2542 MCOP8 DOID:0060841 isolated microphthalmia 8 A microphthalmia characterized by bilateral severe microphthalmia autosomal recessive inheritance of that has_material_basis_in homozygous mutation in the ALDH1A3 gene on chromosome 15q26. url:https://www.ncbi.nlm.nih.gov/pubmed/23312594 url:https://www.ncbi.nlm.nih.gov/pubmed/23591992 A microphthalmia characterized by clinical anophthalmia and/or microphthalmia that has_material_basis_in compound heterozygous mutation in the RAX gene on chromosome 18q21. ICD10CM:Q11.0 OMIM:611038 ORDO:2542 MCOP3 DOID:0060842 isolated microphthalmia 3 A microphthalmia characterized by clinical anophthalmia and/or microphthalmia that has_material_basis_in compound heterozygous mutation in the RAX gene on chromosome 18q21. url:https://www.ncbi.nlm.nih.gov/pubmed/14662654 url:https://www.ncbi.nlm.nih.gov/pubmed/18783408 A neuropathy characterized by autosomal dominant inheritance of peroneal muscle weakness, peripheral neuropathy, hyporeflexia, tomacula, segmental demyelination/remyelination, decreased motor nerve conduction that has_material_basis_in deletion or point mutation of the PMP22 gene on chromosome 17p12. ICD10CM:G60.0 OMIM:162500 ORDO:640 UMLS_CUI:C0393814 HNPP current pressure-sensitive neuropathy familial recurrent polyneuropathy heterozygous microdeletion 17p11.2p12 potato-grubbing palsy tomaculous neuropathy tulip-bulb digger's palsy DOID:0060843 hereditary neuropathy with liability to pressure palsies A neuropathy characterized by autosomal dominant inheritance of peroneal muscle weakness, peripheral neuropathy, hyporeflexia, tomacula, segmental demyelination/remyelination, decreased motor nerve conduction that has_material_basis_in deletion or point mutation of the PMP22 gene on chromosome 17p12. url:https://www.ncbi.nlm.nih.gov/pubmed/12682341 url:https://www.ncbi.nlm.nih.gov/pubmed/2540008 url:https://www.ncbi.nlm.nih.gov/pubmed/8422677 A X-linked disease characterized by X-linked recessive inheritance of degenerative and proliferative changes of the neuroretina resulting in congenital blindness along with progressive mental disorders in about 50% of patients and sensorineural deafness in about 33% of patients that has_material_basis_in mutation in the NDP gene on chromosome Xp11. ICD10CM:H35.5 MESH:C537849 OMIM:310600 ORDO:649 UMLS_CUI:C0266526 Episkopi blindness Norrie-Warburg disease atrophia bulborum hereditaria DOID:0060844 Norrie disease A X-linked disease characterized by X-linked recessive inheritance of degenerative and proliferative changes of the neuroretina resulting in congenital blindness along with progressive mental disorders in about 50% of patients and sensorineural deafness in about 33% of patients that has_material_basis_in mutation in the NDP gene on chromosome Xp11. url:https://www.ncbi.nlm.nih.gov/pubmed/1303235 url:https://www.ncbi.nlm.nih.gov/pubmed/13998843 url:https://www.ncbi.nlm.nih.gov/pubmed/7627181 An osteochondrodysplasia characterized by abnormal shortening of the forearms and lower legs, abnormal misalignment of the wrist (Madelung deformity of the wrist), and associated short stature. It has_material_basis_in heterozygous defects in the pseudoautosomal genes SHOX or SHOXY or by deletion of the SHOX downstream regulatory domain. ICD10CM:Q77.8 MESH:C537119 OMIM:127300 ORDO:240 UMLS_CUI:C0265309 DOID:0060847 Leri-Weill dyschondrosteosis An osteochondrodysplasia characterized by abnormal shortening of the forearms and lower legs, abnormal misalignment of the wrist (Madelung deformity of the wrist), and associated short stature. It has_material_basis_in heterozygous defects in the pseudoautosomal genes SHOX or SHOXY or by deletion of the SHOX downstream regulatory domain. url:https://en.wikipedia.org/wiki/Léri–Weill_dyschondrosteosis url:https://ghr.nlm.nih.gov/condition/leri-weill-dyschondrosteosis url:https://rarediseases.info.nih.gov/diseases/3224/leri-weill-dyschondrosteosis url:https://rarediseases.org/rare-diseases/leri-weilldyschondrosteosis/ url:https://www.ncbi.nlm.nih.gov/pubmed/10713888 url:https://www.ncbi.nlm.nih.gov/pubmed/21712857 url:https://www.ncbi.nlm.nih.gov/pubmed/9590292 An infantile epileptic encephalopathy that has_material_basis_in the gene encoding protocadherin-19 (PCDH19) on chromosome Xq22. OMIM:300088 ORDO:101039 EFMR EIEE9 Juberg Hellman syndrome early infantile female-limited epilecptic encephalopathy female restricted epilepsy with mental retardation DOID:0060848 early infantile epileptic encephalopathy 9 An infantile epileptic encephalopathy that has_material_basis_in the gene encoding protocadherin-19 (PCDH19) on chromosome Xq22. url:https://www.ncbi.nlm.nih.gov/pubmed/18469813 url:https://www.ncbi.nlm.nih.gov/pubmed/19752159 An autosomal recessive disease characterized by congenital or infancy-onset blindness, very low bone mass, decreased trabecular bone volume, severe juvenile-onset osteoporosis and spontaneous fractures, pseudoglioma, microphthalmia that has_material_basis_in homozygous or compound heterozygous mutation in the LRP5 gene on chromosome 11q13. ICD10CM:Q87.5 MESH:C536063 OMIM:259770 ORDO:2788 UMLS_CUI:C0432252 OPPG ocular form of osteogenesis imperfecta DOID:0060849 osteoporosis-pseudoglioma syndrome An autosomal recessive disease characterized by congenital or infancy-onset blindness, very low bone mass, decreased trabecular bone volume, severe juvenile-onset osteoporosis and spontaneous fractures, pseudoglioma, microphthalmia that has_material_basis_in homozygous or compound heterozygous mutation in the LRP5 gene on chromosome 11q13. url:https://www.ncbi.nlm.nih.gov/pubmed/11719191 url:https://www.ncbi.nlm.nih.gov/pubmed/20034086 url:https://www.ncbi.nlm.nih.gov/pubmed/3955877 A pancreas disease characterized by autosomal dominant inheritance of the annular pancreas (head of the pancreas forming a ring around the second portion of the duodenum) and duodenal stenosis. ICD10CM:Q45.1 MESH:C536376 OMIM:167750 ORDO:675 UMLS_CUI:C0149955 DOID:0060850 annular pancreas A pancreas disease characterized by autosomal dominant inheritance of the annular pancreas (head of the pancreas forming a ring around the second portion of the duodenum) and duodenal stenosis. url:https://www.ncbi.nlm.nih.gov/pubmed/1860255 url:https://www.ncbi.nlm.nih.gov/pubmed/677171 A pemphigus characterized by autosomal dominant blisters and erosions on the skin and mucous membranes erosions cause by autoantibodies to intercellular cement substance. ICD10CM:L10.0 OMIM:169610 ORDO:704 UMLS_CUI:C0030809 familial pemphigus vulgaris DOID:0060851 pemphigus vulgaris A pemphigus characterized by autosomal dominant blisters and erosions on the skin and mucous membranes erosions cause by autoantibodies to intercellular cement substance. url:https://www.ncbi.nlm.nih.gov/pubmed/2217197 url:https://www.ncbi.nlm.nih.gov/pubmed/4577497 An autosomal recessive disease characterized by nephrotic syndrome with diffuse mesangial sclerosis, proteinuria, microcoria, absence of the pupillary dilator muscle in the iris, ciliary muscle atrophy, and abnormal eye development with lens-shape, retinal and corneal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 on chromosome 3p21. ICD10CM:N04.8 MESH:C537185 OMIM:609049 ORDO:2670 UMLS_CUI:C1836876 microcoria-congenital nephrosis syndrome DOID:0060852 Pierson syndrome An autosomal recessive disease characterized by nephrotic syndrome with diffuse mesangial sclerosis, proteinuria, microcoria, absence of the pupillary dilator muscle in the iris, ciliary muscle atrophy, and abnormal eye development with lens-shape, retinal and corneal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 on chromosome 3p21. url:https://www.ncbi.nlm.nih.gov/pubmed/15367484 url:https://www.ncbi.nlm.nih.gov/pubmed/15372515 A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has_material_basis_in duplication of a region of chromosome 17p11.2. ICD10CM:Q92.3 MESH:C536578 OMIM:610883 ORDO:1713 UMLS_CUI:C2931246 17p11.2 microduplication syndrome chromosome 17p11.2 duplication syndrome trisomy 17p11.2 DOID:0060853 Potocki-Luspski syndrome A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has_material_basis_in duplication of a region of chromosome 17p11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/10615134 url:https://www.ncbi.nlm.nih.gov/pubmed/20425816 A pseudohypoaldosteronism characterized by enal salt wasting and high concentrations of sodium in sweat, stool, and saliva that has_material_basis_in homozygous or compound heterozygous mutation in any one of 3 genes encoding subunits of the epithelial sodium channel (ENaC): SCNN1A, SCNN1B, or SCNN1G. ICD10CM:N25.8 MESH:D011546 OMIM:264350 ORDO:171876 ORDO:756 UMLS_CUI:C0268436 PHA1B autosomal recessive PHA 1 DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 A pseudohypoaldosteronism characterized by enal salt wasting and high concentrations of sodium in sweat, stool, and saliva that has_material_basis_in homozygous or compound heterozygous mutation in any one of 3 genes encoding subunits of the epithelial sodium channel (ENaC): SCNN1A, SCNN1B, or SCNN1G. url:https://www.ncbi.nlm.nih.gov/pubmed/10202170 url:https://www.ncbi.nlm.nih.gov/pubmed/10404817 url:https://www.ncbi.nlm.nih.gov/pubmed/8589714 A pseudohypoaldosteronism characterized by Salt wasting resulting from renal unresponsiveness to mineralocorticoids that has_material_basis_in heterozygous mutation in the NR3C2 gene on chromosome 4q31. ICD10CM:N25.8 MESH:D011546 OMIM:177735 ORDO:756 UMLS_CUI:C1449843 PHA1A autosomal dominant PHA 1 DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 A pseudohypoaldosteronism characterized by Salt wasting resulting from renal unresponsiveness to mineralocorticoids that has_material_basis_in heterozygous mutation in the NR3C2 gene on chromosome 4q31. url:https://www.ncbi.nlm.nih.gov/pubmed/9662404 A visceral heterotaxy characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs that has_material_basis_in homozygous mutation in the GDF1 gene on chromosome 19p12. ICD10CM:Q20.6 OMIM:208530 ORDO:97548 Ivemark syndrome asplenia with cardiovascular anomalies DOID:0060856 right atrial isomerism A visceral heterotaxy characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs that has_material_basis_in homozygous mutation in the GDF1 gene on chromosome 19p12. url:https://www.ncbi.nlm.nih.gov/pubmed/14648004 url:https://www.ncbi.nlm.nih.gov/pubmed/20413652 An autosomal genetic disease characterized by the classical triad of optic nerve hypoplasia, pituitary gland hypoplasia and midline brain defects that has_material_basis_in mutation in the HESX1 gene on chromosome 3p14. ICD10CM:Q04.8 MESH:D025962 OMIM:182230 ORDO:3157 UMLS_CUI:C0338503 De Morsier syndrome SOD septo-optic dysplasia DOID:0060857 septooptic dysplasia An autosomal genetic disease characterized by the classical triad of optic nerve hypoplasia, pituitary gland hypoplasia and midline brain defects that has_material_basis_in mutation in the HESX1 gene on chromosome 3p14. url:https://www.ncbi.nlm.nih.gov/pubmed/8696006 url:https://www.ncbi.nlm.nih.gov/pubmed/9620767 A syndrome that has_material_basis_in homozygous deletion on chromosome 2p21 that disrupts the SLC3A1 and PREPL genes. The deletion ranges in size from 23.8 to 75.5 kb. Itis characterized_by neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism. ICD10CM:E72.0 OMIM:606407 ORDO:163690 cystinuria with mitochondrial disease DOID:0060858 hypotonia-cystinuria syndrome A syndrome that has_material_basis_in homozygous deletion on chromosome 2p21 that disrupts the SLC3A1 and PREPL genes. The deletion ranges in size from 23.8 to 75.5 kb. Itis characterized_by neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism. url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=163690 url:https://www.ncbi.nlm.nih.gov/pubmed/11524703 url:https://www.ncbi.nlm.nih.gov/pubmed/16385448 url:https://www.ncbi.nlm.nih.gov/pubmed/18234729 A primary bacterial infectious disease caused by the bacteria of the genus Salmonella. It has sypmtoms diarrhea, fever, vomiting, and abdominal cramps 12 to 72 hours after infection. In most cases, the illness lasts four to seven days, and most people recover without treatment. ICD10CM:A02.0 ICD9CM:003.0 Salmonella infection DOID:0060859 salmonellosis A primary bacterial infectious disease caused by the bacteria of the genus Salmonella. It has sypmtoms diarrhea, fever, vomiting, and abdominal cramps 12 to 72 hours after infection. In most cases, the illness lasts four to seven days, and most people recover without treatment. url:https://www.cdc.gov/salmonella/general/index.html url:https://www.foodsafety.gov/poisoning/causes/bacteriaviruses/salmonella A an autosomal recessive disease that is characterized by autosomal recessive inheritance of bilateral or unilateral clinical anophthalmia or microphthalmia and synostosis, syndactyly, oligodactyly and/or polydactyly that has material_basis_in homozygous mutation in the SMOC1 gene on chromosome 14q24. ICD10CM:Q87.2 OMIM:206920 ORDO:1106 MLA OAS Waardenburg anophthalmia syndrome anophthalmia-syndactyly syndrome ophthalmoacromelic syndrome DOID:0060861 microphthalmia with limb anomalies A an autosomal recessive disease that is characterized by autosomal recessive inheritance of bilateral or unilateral clinical anophthalmia or microphthalmia and synostosis, syndactyly, oligodactyly and/or polydactyly that has material_basis_in homozygous mutation in the SMOC1 gene on chromosome 14q24. url:https://www.ncbi.nlm.nih.gov/pubmed/21194678 url:https://www.ncbi.nlm.nih.gov/pubmed/6846395 A palmoplantar keratosis characterized by autosomal recessive inheritance of symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet and ichthyotic changes elsewhere that has material_basis_in homozygous mutation in the SLURP1 gene on chromosome 8q24. ICD10CM:Q82.8 OMIM:248300 ORDO:87503 Meleda disease keratosis palmoplantaris transgrediens of Siemens transgrediens palmoplantar keratoderma of Siemens DOID:0060862 mal de Meleda A palmoplantar keratosis characterized by autosomal recessive inheritance of symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet and ichthyotic changes elsewhere that has material_basis_in homozygous mutation in the SLURP1 gene on chromosome 8q24. url:https://www.ncbi.nlm.nih.gov/pubmed/11285253 url:https://www.ncbi.nlm.nih.gov/pubmed/9887370 A macular degeneration characterized by abnormal accumulation of lipofuscin in the retinal pigment epithelium in a distinct pattern, patterns include; reticular ('fishnet-like'), macroreticular ('spider-shaped'), and butterfly-shaped. ICD10CM:H35.5 OMIM:PS169150 ORDO:99001 patterned dystrophy of retinal pigment epithelium DOID:0060863 patterned macular dystrophy A macular degeneration characterized by abnormal accumulation of lipofuscin in the retinal pigment epithelium in a distinct pattern, patterns include; reticular ('fishnet-like'), macroreticular ('spider-shaped'), and butterfly-shaped. url:https://www.ncbi.nlm.nih.gov/pubmed/22466463 A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has material_basis_in heterozygous mutation in the CTNNA1 gene on chromosome 5q31. OMIM:608970 MDPT2 butterfly-shaped pigmentary maculary dystrophy 2 DOID:0060864 patterned macular dystrophy 2 A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has material_basis_in heterozygous mutation in the CTNNA1 gene on chromosome 5q31. url:https://www.ncbi.nlm.nih.gov/pubmed/12724643 url:https://www.ncbi.nlm.nih.gov/pubmed/26691986 A patterned macular dystrophy characterized by a 'dry desert land' pattern of the fundus, involving the posterior pole initially and progressing from the temporal fovea to the periphery of the retina developing in the fourth or fifth decade of life that has material_basis_in heterozygous mutation in the MAPKAPK3 gene on chromosome 3p21. OMIM:617111 MDPT3 Martinique crinkled retinal pigment epitheliopathy DOID:0060865 patterned macular dystrophy 3 A patterned macular dystrophy characterized by a 'dry desert land' pattern of the fundus, involving the posterior pole initially and progressing from the temporal fovea to the periphery of the retina developing in the fourth or fifth decade of life that has material_basis_in heterozygous mutation in the MAPKAPK3 gene on chromosome 3p21. url:https://www.ncbi.nlm.nih.gov/pubmed/26744326 A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has material_basis_in heterozygous mutation in the PRPH2 gene on chromosome 6p21. OMIM:169150 MDPT1 butterfly-shaped pigmentary maculary dystrophy 1 DOID:0060866 patterned macular dystrophy 1 A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has material_basis_in heterozygous mutation in the PRPH2 gene on chromosome 6p21. url:url:https://www.ncbi.nlm.nih.gov/pubmed/8251014 An autosomal dominant disease characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has material_basis_in heterozygous mutation in the PTEN gene on chromosome 10q23. OMIM:605309 ORDO:210548 macrocephaly-intellectual disability-autism syndrome DOID:0060867 macrocephaly-autism syndrome An autosomal dominant disease characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has material_basis_in heterozygous mutation in the PTEN gene on chromosome 10q23. url:https://www.ncbi.nlm.nih.gov/pubmed/15805158 url:https://www.ncbi.nlm.nih.gov/pubmed/1719811 A leukodystrophy characterized by variable neurologic features resulting from deficiency in astrocyte maturation, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging with onset from early infancy to adulthood that has material_basis_in homozygous or compound heterozygous mutation in any of the 5 genes encoding subunits of the translation initiation factor EIF2B: EIF2B1 on chromosome 12q24, EIF2B2 on chromosome 14q24, EIF2B3 on chromosome 1p34, EIF2B4 on chromosome 2p23, or EIF2B5 on chromosome 3q27. ICD10CM:E75.2 OMIM:603896 ORDO:135 CACH CLE Cree leukoencephalopathy childhood ataxia with central nervous system hypomyelination vanishing white matter leukodystrophy DOID:0060868 leukoencephalopathy with vanishing white matter A leukodystrophy characterized by variable neurologic features resulting from deficiency in astrocyte maturation, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging with onset from early infancy to adulthood that has material_basis_in homozygous or compound heterozygous mutation in any of the 5 genes encoding subunits of the translation initiation factor EIF2B: EIF2B1 on chromosome 12q24, EIF2B2 on chromosome 14q24, EIF2B3 on chromosome 1p34, EIF2B4 on chromosome 2p23, or EIF2B5 on chromosome 3q27. url:https://www.ncbi.nlm.nih.gov/pubmed/11704758 url:https://www.ncbi.nlm.nih.gov/pubmed/9710032 A retinal degeneration characterized by autosomal dominant inheritance of night blindness and drusen deposits, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy with onset in the fifth to sixth decade of life that has material_basis_in heterozygous mutation in the C1QTNF5 gene on chromosome 11q23. OMIM:605670 ORDO:67042 LORD autosomal dominant late-onset retinal degeneration DOID:0060869 late-onset retinal degenration A retinal degeneration characterized by autosomal dominant inheritance of night blindness and drusen deposits, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy with onset in the fifth to sixth decade of life that has material_basis_in heterozygous mutation in the C1QTNF5 gene on chromosome 11q23. url:https://www.ncbi.nlm.nih.gov/pubmed/12944416 A hypopituitarism characterized by abnormally low levels, absence or impaired function of growth hormone in the absence of abnormalities in other pituitary hormones. ICD10CM:E23.0 ORDO:631 UMLS_CUI:C0013338 IGHD congenital IGHD congenital isolated GH deficiency congenital isolated growth hormone deficiency familial isolated growth hormone deficiency non-acquired isolated growth hormone deficiency DOID:0060870 isolated growth hormone deficiency A hypopituitarism characterized by abnormally low levels, absence or impaired function of growth hormone in the absence of abnormalities in other pituitary hormones. url:url:https://www.ncbi.nlm.nih.gov/pubmed/8288694 An autosomal dominant disease characterized by congenital deafness, keratopachydermia and constrictions of fingers and toes that has material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q. ICD10CM:Q80.8 OMIM:148210 ORDO:477 autosomal dominant KID syndrome DOID:0060871 autosomal dominant keratitis-ichthyosis-deafness syndrome An autosomal dominant disease characterized by congenital deafness, keratopachydermia and constrictions of fingers and toes that has material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q. url:https://www.ncbi.nlm.nih.gov/pubmed/11912510 url:https://www.ncbi.nlm.nih.gov/pubmed/11918723 url:https://www.ncbi.nlm.nih.gov/pubmed/3579358 An isolated growth hormone deficiency characterized by autosomal dominant inheritance of low but detectable levels of GH1 resulting in variable degrees of dwarfism which are responsive to growth hormone therapy that has material_basis_in dominant negative mutations in the GH1 gene on chromosome 17q23.3. ICD10CM:E23.0 OMIM:173100 ORDO:231679 IGHD II autosomal dominant isolated growth hormone deficiency autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency congenital IGHD type II congenital isolated GH deficiency type II congenital isolated growth hormone deficiency type II DOID:0060872 isolated growth hormone deficiency type II An isolated growth hormone deficiency characterized by autosomal dominant inheritance of low but detectable levels of GH1 resulting in variable degrees of dwarfism which are responsive to growth hormone therapy that has material_basis_in dominant negative mutations in the GH1 gene on chromosome 17q23.3. url:https://www.ncbi.nlm.nih.gov/pubmed/15671105 url:https://www.ncbi.nlm.nih.gov/pubmed/8288694 An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has material_basis_in null mutations in the GH1 gene on chromosome 17q23.3. ICD10CM:E23.0 OMIM:262400 ORDO:231662 IGHD IA Illig-type growth hormone deficiency autosomal recessive isolated growth hormone deficiency pituitary dwarfism I primordial dwarfism sexual ateleiotic dwarfism DOID:0060873 isolated growth hormone deficiency type IA An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has material_basis_in null mutations in the GH1 gene on chromosome 17q23.3. url:https://www.ncbi.nlm.nih.gov/pubmed/16060904 url:https://www.ncbi.nlm.nih.gov/pubmed/8288694 An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has material_basis_in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively. ICD10CM:E23.0 OMIM:612781 ORDO:231671 IGHD IB congenital IGHD type IB congenital isolated GH deficiency type IB congenital isolated growth hormone deficiency type IB dwarfism of Sindh DOID:0060874 isolated growth hormone deficiency type IB An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has material_basis_in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively. url:https://www.ncbi.nlm.nih.gov/pubmed/10678654 url:https://www.ncbi.nlm.nih.gov/pubmed/8288694 url:https://www.ncbi.nlm.nih.gov/pubmed/8528260 An isolated growth hormone deficiency characterized by dwarfism, variable occurence of hypogammaglobulinemia, and a generally good response to growth hormone therapy that has material_basis_in mutation in the BTK gene on chromosome Xq22.1. ICD10CM:E23.0 OMIM:307200 ORDO:231692 Fleisher syndrome IGHD III X-linked IGHD X-linked agammaglobulinemia and isolated growth hormone deficiency X-linked hypogammaglobulinemia and isolated growth hormone deficiency X-linked isolated growth hormone deficiency congenital IGHD type III congenital isolated GH deficiency type III congenital isolated growth hormone deficiency type III growth hormone deficiency with hypogammaglobulinemia DOID:0060875 isolated growth hormone deficiency type III An isolated growth hormone deficiency characterized by dwarfism, variable occurence of hypogammaglobulinemia, and a generally good response to growth hormone therapy that has material_basis_in mutation in the BTK gene on chromosome Xq22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/8013627 url:https://www.ncbi.nlm.nih.gov/pubmed/8288694 An ichthyosis characterized by autosomal dominant inheritance of congenital erythema and widespread skin blistering, blisters develop into gray hyperkeratoses with a lichenified appearance that has material_basis_in heterozygous mutation in the KRT2 gene on chromosome 12q13. ICD10CM:Q80.8 MESH:D053560 OMIM:146800 ORDO:455 UMLS_CUI:C0432306 bullous type ichthyosis superficial epidermolytic ichthyosis DOID:0060877 ichthyosis bullosa of Siemens An ichthyosis characterized by autosomal dominant inheritance of congenital erythema and widespread skin blistering, blisters develop into gray hyperkeratoses with a lichenified appearance that has material_basis_in heterozygous mutation in the KRT2 gene on chromosome 12q13. url:https://www.ncbi.nlm.nih.gov/pubmed/4247927 url:https://www.ncbi.nlm.nih.gov/pubmed/7524919 A characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure that has material_basis_in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14. ICD10CM:Q87.8 OMIM:146255 ORDO:2237 UMLS_CUI:C1840333 Barakat syndrome HDR syndrome hypoparathyroidism, sensorineural deafness, and renal disease DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome A characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure that has material_basis_in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14. url:https://www.ncbi.nlm.nih.gov/pubmed/10935639 url:https://www.ncbi.nlm.nih.gov/pubmed/874665 A metal metabolism disorder characterized by very low serum magnesium levels often with secondary hypocalcemia with onset typically in the first months of life. ICD10CM:E83.4 OMIM:PS602014 ORDO:34526 HOMG primary familial hypomagnesemia DOID:0060879 primary hypomagnesemia A metal metabolism disorder characterized by very low serum magnesium levels often with secondary hypocalcemia with onset typically in the first months of life. url:https://www.ncbi.nlm.nih.gov/pubmed/18818955 A hypomagnesemia characterized by autosomal recessive inheritance of excessive urinary Ca(2+) and Mg(2+) excretion that has material_basis_in homozygous or compound heterozygous mutation in the CLDN16 gene on chromosome 3q28. ICD10CM:E83.4 OMIM:248250 ORDO:31043 FHHNC without severe ocular involvement HOMG3 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement isolated renal hypomagnesemia primary hypomagnesemia due to defect in renal tubular transport of magnesium renal hypomagnesemia type 3 DOID:0060880 renal hypomagnesemia 3 A hypomagnesemia characterized by autosomal recessive inheritance of excessive urinary Ca(2+) and Mg(2+) excretion that has material_basis_in homozygous or compound heterozygous mutation in the CLDN16 gene on chromosome 3q28. url:https://www.ncbi.nlm.nih.gov/pubmed/10390358 url:https://www.ncbi.nlm.nih.gov/pubmed/16501001 A hypomagnesemia characterized by autosomal recessive inheritance of renal magnesium wasting with hypercalcinosis, progressive renal failure and severe ocular involvement that has material_basis_in homozygous mutation in the CLDN19 gene on chromosome 1p34.2. ICD10CM:E83.4 OMIM:248190 ORDO:2196 UMLS_CUI:C2931121 FHHNC with severe ocular involvement Meier-Blumberg-Imahorn syndrome bilateral macular coloboma with hypercalciuria familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement hypercalciuria-bilateral macular coloboma syndrome DOID:0060881 renal hypomagnesemia 5 with ocular involvement A hypomagnesemia characterized by autosomal recessive inheritance of renal magnesium wasting with hypercalcinosis, progressive renal failure and severe ocular involvement that has material_basis_in homozygous mutation in the CLDN19 gene on chromosome 1p34.2. url:https://www.ncbi.nlm.nih.gov/pubmed/17033971 A hypomagnesemia characterized by isolated hypomagnesemia due to renal loss with normal serum calcium levels and urinary calcium excretion that has material_basis_in variation in the chromosome region 4q25. ICD10CM:E83.4 OMIM:611718 ORDO:34527 HOMG4 DOID:0060882 renal hypomagnesemia 4 A hypomagnesemia characterized by isolated hypomagnesemia due to renal loss with normal serum calcium levels and urinary calcium excretion that has material_basis_in variation in the chromosome region 4q25. url:https://www.ncbi.nlm.nih.gov/pubmed/12584272 url:https://www.ncbi.nlm.nih.gov/pubmed/17671655 A hypomagnesemia characterized by very low serum magnesium levels due to defects in intestinal absorbtion and kidney excretion and secondary hypocalcemia that has material_basis_in homozygous or compound heterozygous mutations in the TRPM6 gene on chromosome 9q21. ICD10CM:E83.4 OMIM:602014 ORDO:30924 HOMG1 hypomagnesemia caused by selective magnesium malabsorption hypomagnesemia intestinal type 1 hypomagnesemic tetany intestinal hypomagnesemia with secondary hypocalcemia primary hypomagnesemia with secondary hypocalcemia DOID:0060883 intestinal hypomagnesemia 1 A hypomagnesemia characterized by very low serum magnesium levels due to defects in intestinal absorbtion and kidney excretion and secondary hypocalcemia that has material_basis_in homozygous or compound heterozygous mutations in the TRPM6 gene on chromosome 9q21. url:https://www.ncbi.nlm.nih.gov/pubmed/12032568 url:https://www.ncbi.nlm.nih.gov/pubmed/12032570 url:https://www.ncbi.nlm.nih.gov/pubmed/18818955 A hypomagnesemia characterized by autosomal dominant inheritance of severely lowered serum magnesium levels without other electrolyte disturbances or abnormalities in urinary magnesium excretion that has material_basis_in heterozygous mutation in the CNNM2 gene on chromosome 10q24. ICD10CM:E83.4 OMIM:613882 ORDO:34527 HOMG6 DOID:0060884 renal hypomagnesemia 6 A hypomagnesemia characterized by autosomal dominant inheritance of severely lowered serum magnesium levels without other electrolyte disturbances or abnormalities in urinary magnesium excretion that has material_basis_in heterozygous mutation in the CNNM2 gene on chromosome 10q24. url:https://www.ncbi.nlm.nih.gov/pubmed/21397062 A hypomagnesemia characterized by autosomal dominant inheritance of hypomagnesemia due to renal magnesium loss that has material_basis_in heterozygous mutation in the FXYD2 gene on chromosome 11q23. ICD10CM:E83.4 OMIM:154020 ORDO:34528 HOMG2 autosomal dominant primary hypomagnesemia with hypocalciuria DOID:0060885 renal hypomagnesemia 2 A hypomagnesemia characterized by autosomal dominant inheritance of hypomagnesemia due to renal magnesium loss that has material_basis_in heterozygous mutation in the FXYD2 gene on chromosome 11q23. url:https://www.ncbi.nlm.nih.gov/pubmed/11062458 url:https://www.ncbi.nlm.nih.gov/pubmed/3298795 An osteosclerosis characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss in females and fetal or neonatal lethality in males that has material_basis_in mutation in the AMER1 gene on chromosome Xq11. ICD10CM:Q78.8 MESH:C536053 OMIM:300373 ORDO:2780 UMLS_CUI:C0432268 Robinow-Unger syndrome hyperostosis generalisata with striations DOID:0060886 osteopathia striata with cranial sclerosis An osteosclerosis characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss in females and fetal or neonatal lethality in males that has material_basis_in mutation in the AMER1 gene on chromosome Xq11. url:https://www.ncbi.nlm.nih.gov/pubmed/19079258 A connective tissue disease characterized by ectopic ossification of the posterior longitudinal spinal ligament resulting in spinal cord compression, myelopathy and hyperreflexia. OMIM:602475 OPLL DOID:0060887 ossification of the posterior longitudinal ligament of spine A connective tissue disease characterized by ectopic ossification of the posterior longitudinal spinal ligament resulting in spinal cord compression, myelopathy and hyperreflexia. url:https://www.ncbi.nlm.nih.gov/pubmed/27374772 A myeloproliferative neoplasm characterized by leukocytosis in newborns with Down syndrome and rarely in non-Down's infants. ICD10CM:D47.7 OMIM:159595 ORDO:420611 MST TAM transient abnormal myelopoiesis transient leukemia transient leurkemia of Down syndrome transient myeloproliferative disease DOID:0060888 transient myeloproliferative syndrome A myeloproliferative neoplasm characterized by leukocytosis in newborns with Down syndrome and rarely in non-Down's infants. url:https://www.ncbi.nlm.nih.gov/pubmed/6229618 A syndrome that has_material_basis in homozygous mutation in the CHRM3 gene on chromosome 1q43. It is characterized by megacystis (massively enlarged bladder) with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin. ICD10CM:Q79.4 MESH:D011535 OMIM:100100 ORDO:2970 Eagle-Barret syndrome Obrisnksy syndrome abdominal muscle deficiency syndrome DOID:0060889 prune belly syndome A syndrome that has_material_basis in homozygous mutation in the CHRM3 gene on chromosome 1q43. It is characterized by megacystis (massively enlarged bladder) with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin. url:https://en.wikipedia.org/wiki/Prune_belly_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/15912376 url:https://www.ncbi.nlm.nih.gov/pubmed/22077972 A Cushing syndrome in which a tumor outside the pituitary gland produces a hormone called adrenocorticotropic hormone (ACTH). ICD10CM:E24.3 ORDO:99889 Cushing syndrome due to ectopic ACTH secretion ectopic ACTH secreting tumor DOID:0060890 ectopic Cushing syndrome A Cushing syndrome in which a tumor outside the pituitary gland produces a hormone called adrenocorticotropic hormone (ACTH). url:https://www.ncbi.nlm.nih.gov/pubmed/27387249 A Parkinson's disease that has_material_basis_in homozygous mutation in the DNAJC6 gene on chromosome 1p31. ICD10CM:G20 OMIM:615528 ORDO:391411 DOID:00600891 juvenile onset Parkinson disease 19A A Parkinson's disease that has_material_basis_in homozygous mutation in the DNAJC6 gene on chromosome 1p31. url:https://www.ncbi.nlm.nih.gov/pubmed/22563501 url:https://www.ncbi.nlm.nih.gov/pubmed/23211418 url:https://www.ncbi.nlm.nih.gov/pubmed/26703368 ORDO:411602 DOID:0060892 late onset Parkinson disease DOID:0060893 juvenile-onset Parkinson disease ORDO:391411 DOID:0060894 early-onset Parkinson disease A late onset Parkinson disease that has_material_basis_in heterozygous triplication of the alpha-synuclein gene (SNCA) on chromosome 4q22. ICD10CM:G20 OMIM:605543 autosomal dominant Lewy body Parkinson disease 4 DOID:0060895 autosomal dominant Parkinson disease 4 A late onset Parkinson disease that has_material_basis_in heterozygous triplication of the alpha-synuclein gene (SNCA) on chromosome 4q22. url:https://www.ncbi.nlm.nih.gov/pubmed/14755720 url:https://www.ncbi.nlm.nih.gov/pubmed/17251522 An early-onset Parkinson disease that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13C gene on chromosome 15q22. ICD10CM:G20 OMIM:616840 DOID:0060896 autosomal recessive early-onset Parksinson disease 23 An early-onset Parkinson disease that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13C gene on chromosome 15q22. url:https://www.ncbi.nlm.nih.gov/pubmed/26942284 A late-onset Parkinson disease that has_material_basis_in heterozygous mutation in the VPS35 gene on chromosome 16q13. OMIM:614203 autosomal dominant Parkinson disease 17 DOID:0060897 Parkinson disease 17 A late-onset Parkinson disease that has_material_basis_in heterozygous mutation in the VPS35 gene on chromosome 16q13. url:https://www.ncbi.nlm.nih.gov/pubmed/21763483 An early-onset Parkinson disease that has_material_basis_in homozygous mutation in the SYNJ1 gene on chromosome 21q22. OMIM:615530 DOID:0060898 early-onset Parkinson disease 20 An early-onset Parkinson disease that has_material_basis_in homozygous mutation in the SYNJ1 gene on chromosome 21q22. url:https://www.ncbi.nlm.nih.gov/pubmed/23804563 url:https://www.ncbi.nlm.nih.gov/pubmed/23804577 A late-onset Parkinson disease that has_material_basis_in homozygous mutation in the PLA2G6 gene on chromosome 22q13. OMIM:612953 DOID:0060900 autosomal recessive Parkinson disease 14 A late-onset Parkinson disease that has_material_basis_in homozygous mutation in the PLA2G6 gene on chromosome 22q13. url:https://www.ncbi.nlm.nih.gov/pubmed/18570303 A lymphoplasmacytic lymphoma characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein. ICD10CM:C88.0 MESH:D008258 ORDO:33226 UMLS_CUI:C0024419 lymphoplasmacytic lymphoma with IgM gammopathy DOID:0060901 Waldenstroem's macroglobulinemia A lymphoplasmacytic lymphoma characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein. http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=10313 https://www.ncbi.nlm.nih.gov/pubmed/10632755 A lissencephaly that has_material_basis_in homozygous mutation in the gene encoding reelin (RELN) on chromosome 7q22. ICD10CM:Q04.3 MESH:C537848 OMIM:257320 ORDO:89844 UMLS_CUI:C0796089 lissencephaly 2 lissencephaly syndrome, Norman-Roberts type DOID:0060902 Norman-Roberts syndrome A lissencephaly that has_material_basis_in homozygous mutation in the gene encoding reelin (RELN) on chromosome 7q22. url:https://www.ncbi.nlm.nih.gov/pubmed/10973257 url:https://www.ncbi.nlm.nih.gov/pubmed/15083694 A vascular disease caused by the formation of a blood clot inside a blood vessel, obstructing the flow of blood through the circulatory system. DOID:0060903 thrombosis A vascular disease caused by the formation of a blood clot inside a blood vessel, obstructing the flow of blood through the circulatory system. url:https://en.wikipedia.org/wiki/Thrombosis A disease of cellular proliferation that results in an abnormal mass of tissue. disease_ontology DOID:0070001 neoplastic disease true A disease of cellular proliferation that results in an abnormal mass of tissue. url:http://en.wikipedia.org/wiki/Neoplasm A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from precursor cells called blast cells. disease_ontology DOID:0070003 blastoma A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from precursor cells called blast cells. url:en.wikipedia.org/wiki/Blastoma A bone marrow cancer that is formed of any one of the bone marrow cells belonging to the granulocytic (neutrophil, eosinophil, basophil), monocytic/macrophage, erythroid, megakaryocytic and mast cell lineages. myeloma disease_ontology DOID:0070004 myeloid neoplasm A bone marrow cancer that is formed of any one of the bone marrow cells belonging to the granulocytic (neutrophil, eosinophil, basophil), monocytic/macrophage, erythroid, megakaryocytic and mast cell lineages. url:https://www.ncbi.nlm.nih.gov/pubmed/?term=19357394 A musculoskeletal system disease that affects the muscles. disease_ontology DOID:0080000 muscular disease A musculoskeletal system disease that affects the muscles. url:http://www.nlm.nih.gov/medlineplus/muscledisorders.html A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function. DOID:1290 ICD10CM:M89.9 MESH:D001847 SNOMEDCT_US_2016_03_01:156814002 SNOMEDCT_US_2016_03_01:203524000 SNOMEDCT_US_2016_03_01:268126004 SNOMEDCT_US_2016_03_01:274145000 SNOMEDCT_US_2016_03_01:308147009 SNOMEDCT_US_2016_03_01:76069003 UMLS_CUI:C0005940 disease_ontology skeletal disease DOID:0080001 bone disease A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function. url:http://en.wikipedia.org/wiki/Bone_disease url:http://www.dsls.usra.edu/meetings/bonehealth_2005/information/factsheet1.pdf A bone disease that results_in formation or resorption abnormalities located_in bone. disease_ontology DOID:0080005 bone remodeling disease A bone disease that results_in formation or resorption abnormalities located_in bone. url:http://en.wikipedia.org/wiki/Bone_remodeling A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage. disease_ontology DOID:0080006 bone development disease A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage. url:http://en.wikipedia.org/wiki/Dysplasia url:http://www.medcyclopaedia.com/library/topics/volume_iii_1/o/osteochondrodysplasia.aspx A bone structure disease that results_in change or damage of structure located_in bone. disease_ontology DOID:0080007 bone deterioration disease A bone structure disease that results_in change or damage of structure located_in bone. url:http://www.nlm.nih.gov/medlineplus/ency/article/004015.htm A bone disease that results_in an interruption of blood supply located_in bone. disease_ontology DOID:0080008 ischemic bone disease A bone disease that results_in an interruption of blood supply located_in bone. url:http://en.wikipedia.org/wiki/Avascular_necrosis url:http://www.nlm.nih.gov/medlineplus/ency/article/007260.htm disease_ontology DOID:0080009 X-linked dominant disease true A bone disease that has_material_basis_in an abnormality in the location or function of the skeletal structure. disease_ontology DOID:0080010 bone structure disease A bone disease that has_material_basis_in an abnormality in the location or function of the skeletal structure. url:http://en.wikipedia.org/wiki/Human_skeleton A bone remodeling disease that results in an abnormal decrease of bone density or mass. MESH:D001862 disease_ontology DOID:0080011 bone resorption disease A bone remodeling disease that results in an abnormal decrease of bone density or mass. url:http://en.wikipedia.org/wiki/Bone_resorption url:http://www.ncbi.nlm.nih.gov/pubmed/11277085 disease_ontology DOID:0080012 X-linked recessive disease true disease_ontology DOID:0080013 mitochondrial disease true A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes. disease_ontology DOID:0080014 chromosomal disease A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes. url:http://en.wikipedia.org/wiki/Chromosome_abnormality url:http://www.genome.gov/11508982#al-5 url:http://www.rarechromo.org/html/chromosomesanddisorders.asp A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. disease_ontology DOID:0080015 physical disorder A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. url:http://en.wikipedia.org/wiki/Congenital_disorder disease_ontology DOID:0080016 spina bifida OPCA type 5 OPCA with dementia and extrapyramidal signs disease_ontology DOID:0080017 olivopontocerebellar atrophy V true An ischemic bone disease the has_material_basis_in nitrogen embolization located_in bone. Caisson disease of bone DON disease_ontology DOID:0080018 dysbaric osteonecrosis An ischemic bone disease the has_material_basis_in nitrogen embolization located_in bone. url:http://en.wikipedia.org/wiki/Dysbaric_osteonecrosis url:http://www.medcyclopaedia.com/library/topics/volume_iii_1/d/dysbaric_osteonecrosis.aspx An osteochondrodysplasia that results_in thinning and the tendency to fracture located_in bone. OMIM:215050 Bakwin-Krida syndrome Pyle's disease Pyle-Cohn syndrome disease_ontology DOID:0080019 metaphyseal dysplasia An osteochondrodysplasia that results_in thinning and the tendency to fracture located_in bone. url:http://en.wikipedia.org/wiki/Metaphyseal_dysplasia url:http://www.healthline.com/galecontent/metaphyseal-dysplasia url:http://www.medcyclopaedia.com/library/topics/volume_iii_1/m/metaphyseal_dysplasia.aspx A metaphyseal dysplasia that has_material_basis_in mutation in PTH receptor which results_in short-limbed dwarfism. Jansen Disease Jansen Metaphyseal Dysostosis Jansen metaphyseal chondrodysplasia Murk Jansen Type Metaphyseal Chondrodysplasia disease_ontology DOID:0080020 Jansen's metaphyseal chondrodysplasia A metaphyseal dysplasia that has_material_basis_in mutation in PTH receptor which results_in short-limbed dwarfism. url:http://en.wikipedia.org/wiki/Jansen%27s_metaphyseal_chondrodysplasia url:http://www.healthline.com/galecontent/metaphyseal-dysplasia-1/2#jansentype A metaphyseal dysplasia that results_in dwarfism and bowed legs. OMIM:156500 Japanese type spondylometaphyseal dysplasia Schmid type metaphyseal dysplasia disease_ontology DOID:0080021 OMIM mapping confirmed by DO. [SN]. Schmid metaphyseal chondrodysplasia A metaphyseal dysplasia that results_in dwarfism and bowed legs. url:http://en.wikipedia.org/wiki/Schmid_metaphyseal_chondrodysplasia url:http://www.cigna.com/healthinfo/nord960.html url:http://www.ncbi.nlm.nih.gov/omim/156500 disease_ontology DOID:0080022 McKusick type metaphyseal dysplasia true disease_ontology DOID:0080023 Shwachman-Diamond type metaphyseal dysplasia disease_ontology DOID:0080024 Pyles dysplasia true disease_ontology DOID:0080025 spondyloepiphyseal dysplasia congenita true An osteochondrodysplasia that results from mutations in the COL11A2 gene which results_in enlargement of the located_in epiphysis in located_in hand and located_in foot, distinct facial features, platyspondyly and hearing loss. OMIM:215150 CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS NANCE-INSLEY SYNDROME NANCE-SWEENEY CHONDRODYSPLASIA disease_ontology DOID:0080026 OMIM mapping confirmed by DO. [SN]. otospondylomegaepiphyseal dysplasia An osteochondrodysplasia that results from mutations in the COL11A2 gene which results_in enlargement of the located_in epiphysis in located_in hand and located_in foot, distinct facial features, platyspondyly and hearing loss. url:http://en.wikipedia.org/wiki/Otospondylomegaepiphyseal_dysplasia url:http://ghr.nlm.nih.gov/condition/otospondylomegaepiphyseal-dysplasia url:http://www.medic8.com/genetics/otospondylomegaepiphyseal-dysplasia.htm url:http://www.ncbi.nlm.nih.gov/omim/215150 An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis. disease_ontology DOID:0080027 spondyloepimetaphyseal dysplasia An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis. url:http://en.wikipedia.org/wiki/Spondyloepimetaphyseal_dysplasia url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=252 A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses). OMIM:184250 disease_ontology DOID:0080028 OMIM mapping confirmed by DO. [SN]. spondyloepimetaphyseal dysplasia, Strudwick type A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses). url:http://en.wikipedia.org/wiki/Spondyloepimetaphyseal_dysplasia,_Strudwick_type url:http://ghr.nlm.nih.gov/condition/spondyloepimetaphyseal-dysplasia-strudwick-type url:http://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=134 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93346 lschriml 2015-10-07T14:55:44Z OMIM:615768 disease_ontology DOID:0080029 autosomal recessive spinocerebellar ataxia 16 A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the MMP13 gene which results_in a pear-shaped vertebrae, abnormal metaphyseal changes, and genu varum deformities. OMIM:602111 disease_ontology DOID:0080030 OMIM mapping confirmed by DO. [SN]. spondyloepimetaphyseal dysplasia, Missouri type A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the MMP13 gene which results_in a pear-shaped vertebrae, abnormal metaphyseal changes, and genu varum deformities. url:http://rarediseases.info.nih.gov/GARD/Condition/10618/Spondyloepimetaphyseal_dysplasia_Missouri_type.aspx url:http://www.ncbi.nlm.nih.gov/omim/602111 url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=12287&Disease_Disease_Search_diseaseGroup=missouri&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29%20concerned=Spondyloepimetaphyseal-dysplasia--Missouri-type&title=Spondyloepimetaphyseal-dysplasia--Missouri-type&search=Disease_Search_Simple A bone remodeling disease that results_in the destruction of normal bone and replacing it with fibrous bone tissue. disease_ontology DOID:0080031 fibrous dysplasia A bone remodeling disease that results_in the destruction of normal bone and replacing it with fibrous bone tissue. url:http://en.wikipedia.org/wiki/Fibrous_dysplasia_of_bone url:http://orthoinfo.aaos.org/topic.cfm?topic=a00083 url:http://www.fibrousdysplasia.org/ url:http://www.mayoclinic.com/health/fibrous-dysplasia/DS00991 url:http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002214/ url:http://www.nlm.nih.gov/medlineplus/ency/article/001234.htm An osteosclerosis that results_in increased calcium concentration located_in skull which decreases the size of cranium foramina and cervical spinal canal. disease_ontology DOID:0080032 craniodiaphyseal dysplasia An osteosclerosis that results_in increased calcium concentration located_in skull which decreases the size of cranium foramina and cervical spinal canal. url:http://en.wikipedia.org/wiki/Craniodiaphyseal_dysplasia url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1513 An osteosclerosis that has_material_basis_in mutations in the ANKH gene which results_in progressive thickening located_in skull and abnormally shaped ends of long bones in the limbs. OMIM:122860 OMIM:123000 OMIM:218300 OMIM:218400 OMIM:614099 OMIM:614378 ORDO:1522 disease_ontology DOID:0080033 Xref MGI. craniometaphyseal dysplasia An osteosclerosis that has_material_basis_in mutations in the ANKH gene which results_in progressive thickening located_in skull and abnormally shaped ends of long bones in the limbs. url:http://children.webmd.com/craniometaphyseal-dysplasia url:http://ghr.nlm.nih.gov/condition/craniometaphyseal-dysplasia url:http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Craniometaphyseal%20Dysplasia A hyperostosis of endosteal bone. disease_ontology DOID:0080034 endosteal hyperostosis true A hyperostosis of endosteal bone. url:http://www.medcyclopaedia.com/library/topics/volume_iii_1/e/endosteal_hyperostosis.aspx A hyperostosis that has_material_basis_in a mutation in the SOST gene which results_in overgrowth of endosteal bone producing dense and wide bones throughout the body especially located_in skull. DOID:0080035 OMIM:239100 van Buchem disease disease_ontology DOID:0080036 SOST-related sclerosing bone dysplasia A hyperostosis that has_material_basis_in a mutation in the SOST gene which results_in overgrowth of endosteal bone producing dense and wide bones throughout the body especially located_in skull. url:http://ghr.nlm.nih.gov/condition/sost-related-sclerosing-bone-dysplasia url:http://rarediseases.info.nih.gov/GARD/Condition/4771/Sclerosteosis.aspx url:http://www.healthline.com/galecontent/sclerosing-bone-dysplasias url:http://www.inheritedhealth.com/condition/SOST-Related_Sclerosing_Bone_Dysplasia/785 url:http://www.medcyclopaedia.com/library/topics/volume_vi_2/v/van_buchems_disease.aspx url:http://www.ncbi.nlm.nih.gov/omim/269500 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=3152 A hyperostosis that has_material_basis_in a mutation in the LRP5 gene which results_in increased bone density and bony structures located_in palate. OMIM:607636 Worth syndrome autosomal dominant endosteal hyperostosis autosomal dominant osteosclerosis benign form of Worth hyperostosis corticalis generalisata with torus platinus disease_ontology DOID:0080037 Worth's syndrome A hyperostosis that has_material_basis_in a mutation in the LRP5 gene which results_in increased bone density and bony structures located_in palate. url:http://en.wikipedia.org/wiki/Worth_syndrome url:http://www.medcyclopaedia.com/library/topics/volume_iii_1/w/worths_syndrome.aspx url:http://www.ncbi.nlm.nih.gov/omim/144750 An osteochondrodysplasia that has_material_basis_in a mutation in the CTSK gene which results_in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges. disease_ontology DOID:0080038 pycnodysostosis An osteochondrodysplasia that has_material_basis_in a mutation in the CTSK gene which results_in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges. url:http://en.wikipedia.org/wiki/Pycnodysostosis url:http://rarediseases.info.nih.gov/GARD/Condition/4611/Pycnodysostosis.aspx url:http://www.medicinenet.com/pycnodysostosis/article.htm url:http://www.ncbi.nlm.nih.gov/omim/265800 url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=571&Disease_Disease_Search_diseaseGroup=Pycnodysostosis&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29%20concerned=Pycnodysostosis&title=Pycnodysostosis&search=Disease_Search_Simple An osteosclerosis that results_in coarsening located_in trabecular bone. disease_ontology DOID:0080039 axial osteomalacia An osteosclerosis that results_in coarsening located_in trabecular bone. url:http://en.wikipedia.org/wiki/Axial_osteomalacia url:http://rarediseases.info.nih.gov/GARD/Condition/8431/Axial_osteomalacia.aspx url:http://www.ncbi.nlm.nih.gov/omim/109130 A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures. Baker's disease disease_ontology DOID:0080040 fibrogenesis imperfecta ossium A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures. url:http://www.medcyclopaedia.com/library/topics/volume_iii_1/f/fibrogenesis_imperfecta_ossium.aspx url:http://www.ncbi.nlm.nih.gov/pubmed/7559718 An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism. disease_ontology DOID:0080041 hypochondroplasia An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism. url:http://en.wikipedia.org/wiki/Hypochondroplasia url:http://ghr.nlm.nih.gov/condition/hypochondroplasia url:http://www.healthline.com/galecontent/hypochondroplasia url:http://www.mcllr.com/sinaibody.cfm?id=1523 url:http://www.medterms.com/script/main/art.asp?articlekey=9068 url:http://www.ncbi.nlm.nih.gov/books/NBK1477/ url:http://www.nemours.org/service/medical/orthopedics/dysplasia/hypochondro.html url:http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Hypochondroplasia lschriml 2015-10-07T14:55:44Z OMIM:616204 disease_ontology DOID:0080042 autosomal recessive spinocerebellar ataxia 18 An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disaprportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period. disease_ontology DOID:0080043 achondrogenesis An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disaprportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period. url:http://en.wikipedia.org/wiki/Achondrogenesis url:http://www.healthline.com/galecontent/achondrogenesis url:http://www.nlm.nih.gov/medlineplus/ency/article/001247.htm url:http://www.orpha.net/data/patho/Pro/en/Achondrogenesis-FRenPro1256.pdf url:http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Achondrogenesis An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which affects bone growth and results_in a small body, hydrops fetalis, and abnormal ossification located_in vertebral column or located_in pelvis. The disease has_symptom enlarged abdomen. disease_ontology DOID:0080044 hypochondrogenesis An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which affects bone growth and results_in a small body, hydrops fetalis, and abnormal ossification located_in vertebral column or located_in pelvis. The disease has_symptom enlarged abdomen. url:http://en.wikipedia.org/wiki/Hypochondrogenesis url:http://ghr.nlm.nih.gov/condition/hypochondrogenesis url:http://www.healthline.com/galecontent/hypochondrogenesis An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which results_in dwarfism with a short trunk and limbs as well as vision and hearing problems. The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face. disease_ontology DOID:0080045 Kniest dysplasia An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which results_in dwarfism with a short trunk and limbs as well as vision and hearing problems. The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face. url:http://ghr.nlm.nih.gov/condition/kniest-dysplasia url:http://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=6841 url:http://www.ksginfo.org/kniest.html OMIM:108300 OMIM:184840 OMIM:604841 disease_ontology DOID:0080046 OMIM mapping confirmed by DO. [SN]. Stickler syndrome An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism. DOID:14800 OMIM:177170 PSEUDOACHONDROPLASIA SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC pseudoachondroplastic dysplasia disease_ontology DOID:0080047 OMIM mapping confirmed by DO. [SN]. pseudoachondroplasia An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism. url:http://en.wikipedia.org/wiki/Pseudoachondroplasia url:http://ghr.nlm.nih.gov/condition/pseudoachondroplasia url:http://www.healthline.com/galecontent/pseudoachondroplasia url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=750.0 url:http://www.wheelessonline.com/ortho/pseudoachondroplasia A disease_ontology DOID:0080048 trichorhinophalangeal syndrome I true A url:http://en.wikipedia.org/wiki/Langer-Giedion_syndrome url:http://ghr.nlm.nih.gov/gene/TRPS1 url:http://trpsa.org/trpsa_wp/ An osteochondrodysplasia that has_material_basis_in mesomelia and acromelia, which results_in short limb Dwarfism. disease_ontology DOID:0080049 acromesomelic dysplasia An osteochondrodysplasia that has_material_basis_in mesomelia and acromelia, which results_in short limb Dwarfism. url:http://www.cigna.com/healthinfo/nord1087.html url:http://www.questdiagnostics.com/kbase/nord/nord1087.htm url:http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Acromesomelic%20Dysplasia url:http://www.webmd.com/a-to-z-guides/acromesomelic-dysplasia An acromesomelic dysplasia that has_material_basis_in mutation in NPR-B receptor which results_in severe dwarfism, abnormalities of the located_in vertebral column and shortening of middle and distal segments in the located_in limb. OMIM:602875 disease_ontology DOID:0080050 OMIM mapping confirmed by DO. [SN]. acromesomelic dysplasia, Maroteaux type An acromesomelic dysplasia that has_material_basis_in mutation in NPR-B receptor which results_in severe dwarfism, abnormalities of the located_in vertebral column and shortening of middle and distal segments in the located_in limb. pdf:http://www.orpha.net/data/patho/GB/uk-Acromesomelic%2805%29.pdf url:http://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=507 url:http://www.ncbi.nlm.nih.gov/omim/602875 An acromesomelic dysplasia that has_material_basis_in mutation in AMDH gene which results_in normal axial skeleton but fused bones in the located_in hand or located_in foot. OMIM:201250 acromesomelic dwarfism disease_ontology DOID:0080051 OMIM mapping confirmed by DO. [SN]. acromesomelic dysplasia, Hunter-Thompson type An acromesomelic dysplasia that has_material_basis_in mutation in AMDH gene which results_in normal axial skeleton but fused bones in the located_in hand or located_in foot. pdf:http://www.orpha.net/data/patho/GB/uk-hunter05.pdf url:http://rarediseases.info.nih.gov/GARD/Disease.aspx?diseaseID=506 url:http://www.ncbi.nlm.nih.gov/omim/201250 An acromesomelic dysplasia that has_material_basis_in mutation in CDMP-1 which results_in micromelia, absence of middle and proximal phalanges and some metacarpal and metatarsal bones. OMIM:200700 GREBE CHONDRODYSPLASIA disease_ontology DOID:0080052 acromesomelic dysplasia, Grebe type An acromesomelic dysplasia that has_material_basis_in mutation in CDMP-1 which results_in micromelia, absence of middle and proximal phalanges and some metacarpal and metatarsal bones. pdf:http://www.orpha.net/data/patho/Pro/en/AcromesomelicDysplasiaGrebe-FRenPro2010.pdf url:http://rarediseases.info.nih.gov/GARD/Condition/1300/Chondrodysplasia_Grebe_type.aspx url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2098 An osteochondrodysplasia that has_material_basis_in lack of responsiveness to parathyroid hormone which results_in shortening and widening of long bones of the located_in hand or located_in foot along with short stature, obesity, and rounded face. OMIM:103580 Albright hereditary osteodystrophy pseudohypoparathyroidism type 1a disease_ontology DOID:0080053 Albright's hereditary osteodystrophy An osteochondrodysplasia that has_material_basis_in lack of responsiveness to parathyroid hormone which results_in shortening and widening of long bones of the located_in hand or located_in foot along with short stature, obesity, and rounded face. pdf:http://www.orpha.net/data/patho/Pro/en/Albright-FRenPro1314.pdf url:http://en.wikipedia.org/wiki/Albright%27s_hereditary_osteodystrophy url:http://rarediseases.info.nih.gov/GARD/Disease.aspx?diseaseID=5770 An achondrogenesis that results_in abnormal ossification of the located_in vertebral column or located_in spine. OMIM:200600 achondrogenesis Houston-Harris type disease_ontology DOID:0080054 OMIM mapping confirmed by DO. [SN]. achondrogenesis type IA An achondrogenesis that results_in abnormal ossification of the located_in vertebral column or located_in spine. url:http://emedicine.medscape.com/article/941176-overview url:http://en.wikipedia.org/wiki/Achondrogenesis_type_1A url:http://www.healthline.com/galecontent/achondrogenesis An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen. OMIM:600972 achondrogenesis Fraccaro type disease_ontology DOID:0080055 OMIM mapping confirmed by DO. [SN]. achondrogenesis type IB An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen. url:http://en.wikipedia.org/wiki/Achondrogenesis_type_1B url:http://ghr.nlm.nih.gov/condition/achondrogenesis url:http://www.healthline.com/galecontent/achondrogenesis url:http://www.ncbi.nlm.nih.gov/books/NBK1516/ An achondrogenesis that has_material_basis_in mutations in the COL2A1 gene which results_in underdeveloped lungs, hydrops fetalis, a prominent forehead and abnormal ossification of the located_in vertebral column or located_in pelvis. OMIM:200610 disease_ontology DOID:0080056 OMIM mapping confirmed by DO. [SN]. achondrogenesis type II An achondrogenesis that has_material_basis_in mutations in the COL2A1 gene which results_in underdeveloped lungs, hydrops fetalis, a prominent forehead and abnormal ossification of the located_in vertebral column or located_in pelvis. url:http://en.wikipedia.org/wiki/Achondrogenesis_type_2 url:http://ghr.nlm.nih.gov/condition/achondrogenesis url:http://www.healthline.com/galecontent/achondrogenesis lschriml 2015-10-07T14:55:44Z OMIM:615705 disease_ontology DOID:0080057 autosomal recessive spinocerebellar ataxia 15 lschriml 2015-10-07T14:55:44Z OMIM:615386 disease_ontology DOID:0080058 autosomal recessive spinocerebellar ataxia 14 lschriml 2015-10-07T14:55:44Z OMIM:609270 disease_ontology DOID:0080059 autosomal recessive spinocerebellar ataxia 7 lschriml 2015-10-07T14:55:44Z OMIM:614322 disease_ontology DOID:0080060 autosomal recessive spinocerebellar ataxia 12 lschriml 2015-10-07T14:55:44Z OMIM:213200 disease_ontology DOID:0080061 autosomal recessive spinocerebellar ataxia 2 lschriml 2015-10-07T14:55:44Z OMIM:614831 disease_ontology DOID:0080062 autosomal recessive spinocerebellar ataxia 13 lschriml 2015-10-07T14:55:44Z OMIM:614229 disease_ontology DOID:0080063 autosomal recessive spinocerebellar ataxia 11 lschriml 2015-10-07T14:55:44Z OMIM:616127 disease_ontology DOID:0080064 autosomal recessive spinocerebellar ataxia 17 lschriml 2015-10-07T14:55:44Z OMIM:616291 disease_ontology DOID:0080065 autosomal recessive spinocerebellar ataxia 19 lschriml 2015-10-07T14:55:44Z OMIM:616354 disease_ontology DOID:0080066 autosomal recessive spinocerebellar ataxia 20 A Charcot-Marie-Tooth disease that is characterized by pyramidal features including extensor plantar responses, mild increase in tone, and preserved or increased reflexes but no spastic gait. lschriml 2015-10-08T16:55:50Z OMIM:600361 hereditary motor and sensory neuropathy with pyramidal features disease_ontology DOID:0080067 Charcot-Marie-Tooth disease type 5 A Charcot-Marie-Tooth disease that is characterized by pyramidal features including extensor plantar responses, mild increase in tone, and preserved or increased reflexes but no spastic gait. url:http://www.ncbi.nlm.nih.gov/pubmed/12601114 url:https://en.wikipedia.org/wiki/Charcot-Marie-Tooth_classifications A Charcot-Marie-Tooth disease that is characterized by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. lschriml 2015-10-08T16:55:50Z OMIM:601152 OMIM:616505 hereditary motor and sensory neuropathy type 6 disease_ontology DOID:0080068 Charcot-Marie-Tooth disease type 6 A Charcot-Marie-Tooth disease that is characterized by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. url:http://www.ncbi.nlm.nih.gov/pubmed/26168012 url:https://en.wikipedia.org/wiki/Charcot-Marie-Tooth_classifications A Charcot-Marie-Tooth disease that is characterized by optic atrophy followed by retinitis pigmentosa. lschriml 2015-10-08T16:55:50Z disease_ontology DOID:0080069 Charcot-Marie-Tooth disease type 7 A Charcot-Marie-Tooth disease that is characterized by optic atrophy followed by retinitis pigmentosa. url:http://www.ncbi.nlm.nih.gov/pubmed/25491489 lschriml 2015-10-08T17:58:48Z OMIM:252500 I-cell disease mucolipidosis II disease_ontology DOID:0080070 inclusion-cell disease lschriml 2015-10-08T17:58:48Z OMIM:252600 OMIM:252605 mucolipidosis III disease_ontology DOID:0080071 pseudo-Hurler polydystrophy lschriml 2015-10-19T14:28:30Z OMIM:243180 OMIM:601223 disease_ontology DOID:0080072 neuronal intestinal dysplasia lschriml 2015-10-19T14:35:47Z disease_ontology DOID:0080073 spina bifida occulta lschriml 2015-10-19T14:41:42Z OMIM:301410 OMIM:601634 disease_ontology DOID:0080074 neural tube defect lschriml 2015-10-19T14:47:01Z OMIM:616038 disease_ontology DOID:0080075 Neu-Laxova syndrome 2 lschriml 2015-10-19T14:47:35Z OMIM:256520 disease_ontology DOID:0080076 Neu-Laxova syndrome 1 lschriml 2015-10-19T14:52:42Z OMIM:612286 disease_ontology DOID:0080077 hypophosphatemic nephrolithiasis/osteoporosis 1 lschriml 2015-10-19T14:52:42Z OMIM:612287 disease_ontology DOID:0080078 hypophosphatemic nephrolithiasis/osteoporosis 2 lschriml 2015-11-09T15:13:08Z OMIM:161050 twenty-nail dystrophy disease_ontology DOID:0080079 nonsyndromic congenital nail disorder 1 lschriml 2015-11-09T15:18:20Z OMIM:149300 disease_ontology DOID:0080080 nonsyndromic congenital nail disorder 2 lschriml 2015-11-09T15:18:20Z OMIM:151600 disease_ontology DOID:0080081 nonsyndromic congenital nail disorder 3 lschriml 2015-11-09T15:18:20Z OMIM:206800 disease_ontology DOID:0080082 nonsyndromic congenital nail disorder 4 lschriml 2015-11-09T15:18:20Z OMIM:164800 disease_ontology DOID:0080083 nonsyndromic congenital nail disorder 5 lschriml 2015-11-09T15:18:20Z OMIM:107000 disease_ontology DOID:0080084 nonsyndromic congenital nail disorder 6 lschriml 2015-11-09T15:18:20Z OMIM:605779 disease_ontology DOID:0080085 nonsyndromic congenital nail disorder 7 lschriml 2015-11-09T15:18:20Z OMIM:607523 disease_ontology DOID:0080086 nonsyndromic congenital nail disorder 8 lschriml 2015-11-09T15:18:20Z OMIM:614149 disease_ontology DOID:0080087 nonsyndromic congenital nail disorder 9 lschriml 2015-11-09T15:18:20Z OMIM:614157 disease_ontology DOID:0080088 nonsyndromic congenital nail disorder 10 lschriml 2015-11-10T16:53:39Z OMIM:160565 OMIM:615883 disease_ontology DOID:0080089 tubular aggregate myopathy lschriml 2015-11-10T16:54:50Z OMIM:300717 OMIM:300718 disease_ontology DOID:0080090 reducing body myopathy lschriml 2015-11-10T16:57:47Z OMIM:182920 disease_ontology DOID:0080091 spheroid body myopathy lschriml 2015-11-10T16:59:22Z OMIM:601419 desminopathy disease_ontology DOID:0080092 myofibrillar myopathy 1 lschriml 2015-11-10T16:59:22Z OMIM:608810 alpha-b crystallinopathy disease_ontology DOID:0080093 myofibrillar myopathy 2 lschriml 2015-11-10T16:59:22Z OMIM:609200 myotilinopathy disease_ontology DOID:0080094 myofibrillar myopathy 3 lschriml 2015-11-10T16:59:22Z OMIM:609452 zaspopathy disease_ontology DOID:0080095 myofibrillar myopathy 4 lschriml 2015-11-10T16:59:22Z OMIM:609524 filaminopathy disease_ontology DOID:0080096 myofibrillar myopathy 5 lschriml 2015-11-10T16:59:22Z OMIM:612954 disease_ontology BAG3-related myofibrillar myopathy DOID:0080097 myofibrillar myopathy 6 lschriml 2015-11-10T16:59:22Z OMIM:613869 alpha-b crystalin-related fatal infantile hypertonic myofibrillar myopathy disease_ontology DOID:0080098 myofibrillar myopathy 7 lschriml 2015-11-10T17:17:42Z OMIM:500011 OMIM:600462 OMIM:613561 disease_ontology DOID:0080099 myopathy, lactic acidosis, and sideroblastic anemia lschriml 2015-11-10T17:25:05Z OMIM:255300 disease_ontology DOID:0080100 congenital myopathy lschriml 2015-11-10T17:27:15Z OMIM:612540 disease_ontology DOID:0080101 Compton-North congenital myopathy lschriml 2015-11-10T17:27:15Z OMIM:255310 OMIM:300580 disease_ontology DOID:0080102 congenital fiber-type disproportion lschriml 2015-11-10T17:27:15Z OMIM:160990 disease_ontology DOID:0080103 cylindrical spirals myopathy A syndrome that is characterized by delayed psychomotor development and visual impairment, often accompanied by short stature and has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP6 gene. OMIM:251270 microcephaly and chorioretinopathy 1 A syndrome that is characterized by delayed psychomotor development and visual impairment, often accompanied by short stature and has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP6 gene. url:http://www.ncbi.nlm.nih.gov/pubmed/25344692 A syndrome that is characterized by delayed psychomotor development, visual impairment, and short stature and has_material_basis_in homozygous mutation in the PLK4 gene. OMIM:616171 microcephaly and chorioretinopathy 2 A syndrome that is characterized by delayed psychomotor development, visual impairment, and short stature and has_material_basis_in homozygous mutation in the PLK4 gene. url:http://www.ncbi.nlm.nih.gov/pubmed/25344692 A syndrome that is characterized by congenital microcephaly and chorioretinal dysplasia associated with poor vision and nystagmus and has_material_basis_in compound heterozygous mutation in the TUBGCP4 gene. OMIM:616335 microcephaly and chorioretinopathy 3 A syndrome that is characterized by congenital microcephaly and chorioretinal dysplasia associated with poor vision and nystagmus and has_material_basis_in compound heterozygous mutation in the TUBGCP4 gene. url:http://www.ncbi.nlm.nih.gov/pubmed/25344692 A myopathy that is characterized by an increased urinary excretion of myoglobin. OMIM:160010 OMIM:268200 OMIM:550500 DOID:0080108 myoglobinuria A myopathy that is characterized by an increased urinary excretion of myoglobin. url:http://www.ncbi.nlm.nih.gov/pubmed/9098484 url:https://books.google.com/books?id=BxWOErb3sEgC&pg=PA477&dq=myoglobinuria&hl=en&sa=X&ved=0CCoQ6AEwAmoVChMIiYqijYmJyQIVCGk-Ch3ROwQk#v=onepage&q=myoglobinuria&f=false A connective tissue benign neoplasm that is characterized by the development of benign tumors in the skin, striated muscles, bones, and in exceptional cases, visceral organs. OMIM:228550 OMIM:615293 ORDO:2591 infantile myofibromatosis A connective tissue benign neoplasm that is characterized by the development of benign tumors in the skin, striated muscles, bones, and in exceptional cases, visceral organs. url:http://www.ncbi.nlm.nih.gov/pubmed/23731542 A genetic disease that is characterized by permanently bent fingers (camptodactyly), short stature, rocker-bottom or club feet, joints that are bent in a fixed position (contractures), union or webbing of the skin between the fingers (syndactyly), and/or webbing of the neck, inside bend of the elbows, back of the knees and armpits. OMIM:178110 OMIM:253290 OMIM:265000 OMIM:312150 DOID:0080110 multiple pterygium syndrome A genetic disease that is characterized by permanently bent fingers (camptodactyly), short stature, rocker-bottom or club feet, joints that are bent in a fixed position (contractures), union or webbing of the skin between the fingers (syndactyly), and/or webbing of the neck, inside bend of the elbows, back of the knees and armpits. url:http://rarediseases.org/rare-diseases/pterygium-syndrome-multiple/ url:http://www.ncbi.nlm.nih.gov/pubmed/25957469 url:https://en.wikipedia.org/wiki/Multiple_pterygium_syndrome url:https://ghr.nlm.nih.gov/condition/multiple-pterygium-syndrome OMIM:124000 mitochondrial complex III deficiency nuclear type 1 OMIM:615158 mitochondrial complex III deficiency nuclear type 3 OMIM:615159 mitochondrial complex III deficiency nuclear type 4 OMIM:615160 mitochondrial complex III deficiency nuclear type 5 OMIM:615453 mitochondrial complex III deficiency nuclear type 6 OMIM:615824 mitochondrial complex III deficiency nuclear type 7 OMIM:615838 mitochondrial complex III deficiency nuclear type 8 OMIM:616111 mitochondrial complex III deficiency nuclear type 9 OMIM:603041 mitochondrial DNA depletion syndrome 1 OMIM:609560 mitochondrial DNA depletion syndrome 2 OMIM:251880 mitochondrial DNA depletion syndrome 3 OMIM:203700 DOID:0080122 mitochondrial DNA depletion syndrome 4a OMIM:613662 mitochondrial DNA depletion syndrome 4b OMIM:612073 mitochondrial DNA depletion syndrome 5 OMIM:256810 mitochondrial DNA depletion syndrome 6 OMIM:256810 mitochondrial DNA depletion syndrome 7 OMIM:612075 mitochondrial DNA depletion syndrome 8a OMIM:245400 mitochondrial DNA depletion syndrome 9 OMIM:615084 mitochondrial DNA depletion syndrome 11 OMIM:615418 mitochondrial DNA depletion syndrome 12 OMIM:615471 mitochondrial DNA depletion syndrome 13 OMIM:212350 mitochondrial DNA depletion syndrome 10 Sengers syndrome OMIM:605711 multiple mitochondrial dysfunctions syndrome 1 OMIM:614299 multiple mitochondrial dysfunctions syndrome 2 OMIM:615330 multiple mitochondrial dysfunctions syndrome 3 OMIM:616370 multiple mitochondrial dysfunctions syndrome 4 OMIM:610755 Multiple Endocrine Neoplasia, Type IV multiple endocrine neoplasia type 4 OMIM:614080 multiple congenital anomalies-hypotonia-seizures syndrome 1 OMIM:300868 multiple congenital anomalies-hypotonia-seizures syndrome 2 OMIM:615398 multiple congenital anomalies-hypotonia-seizures syndrome 3 OMIM:257300 mosaic variegated aneuploidy syndrome 1 OMIM:614114 mosaic variegated aneuploidy syndrome 2 An ocular motility disease that is characterized by the inability to move the eyes in certain directions, droopy eyelids and eyes that are fixed in an abnormal position. OMIM:135700 OMIM:600638 OMIM:602078 OMIM:609384 OMIM:609428 OMIM:616219 Tukel syndrome DOID:0080143 congenital fibrosis of the extraocular muscles An ocular motility disease that is characterized by the inability to move the eyes in certain directions, droopy eyelids and eyes that are fixed in an abnormal position. url:https://ghr.nlm.nih.gov/condition/congenital-fibrosis-of-the-extraocular-muscles#synonyms An acute lymphocytic leukemia occuring during childhood. NCI:C3168 Childhood Acute Lymphoblastic Leukemia DOID:0080144 childhood acute lymphocytic leukemia An acute lymphocytic leukemia occuring during childhood. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.04d&ns=NCI_Thesaurus&code=C3168&key=736438179&b=1&n=null A childhood acute lymphoblastic leukemia that has_material_basis in T-cells. NCI:C7953 DOID:0080145 T-cell childhood acute lymphocytic leukemia A childhood acute lymphoblastic leukemia that has_material_basis in T-cells. https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.07d&ns=NCI_Thesaurus&code=C7953 A childhood acute lymphoblastic leukemia that has_material_basis in B-cells. NCI:C9140 DOID:0080146 B-cell childhood acute lymphoblastic leukemia A childhood acute lymphoblastic leukemia that has_material_basis in B-cells. https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.07d&ns=NCI_Thesaurus&code=C9140 A lymphoma that has_material_basis_in immature malignant lymphocytes (lymphoblasts) committed to the B-cell or T-cell lineage and located_in primarily lymph nodes or located_in extranodal sites. lymphoblastic lymphoma A lymphoma that has_material_basis_in immature malignant lymphocytes (lymphoblasts) committed to the B-cell or T-cell lineage and located_in primarily lymph nodes or located_in extranodal sites. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C7055 A lymphoblastic lymphoma that has_material_basis_in T-cells and that occurs during childhood. NCI:C7210 Childhood T lymphoblastic lymphoma DOID:0080148 T-cell childhood lymphoblastic lymphoma A lymphoblastic lymphoma that has_material_basis_in T-cells and that occurs during childhood. url:https://ncit.nci.nih.gov/ncitbrowser/pages/concept_details.jsf An acute monocytic leukemia occurring in adults. NCI:C8263 adult acute monocytic leukemia An acute monocytic leukemia occurring in adults. url:https://ncit.nci.nih.gov/ncitbrowser/pages/concept_details.jsf A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland. OMIM:201400 adrenocorticotropic hormone deficiency A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=27041067 url:https://en.wikipedia.org/wiki/Adrenocorticotropic_hormone_deficiency A lipid metabolism disorder that is characterized by a deficiency of the enzyme medium chain acyl-CoA dehydrogenase that results in the inability to convert medium chain fatty acids to energy, particularly during fasting. OMIM:201450 DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency A lipid metabolism disorder that is characterized by a deficiency of the enzyme medium chain acyl-CoA dehydrogenase that results in the inability to convert medium chain fatty acids to energy, particularly during fasting. url:http://rarediseases.org/rare-diseases/medium-chain-acyl-coa-dehydrogenase-deficiency/ url:https://ghr.nlm.nih.gov/condition/medium-chain-acyl-coa-dehydrogenase-deficiency A lipid metabolism disorder that is characterized by deficiency of the enzyme short chain acyl-CoA dehydrogenase that results in the inability to convert short chain fatty acids. OMIM:201470 DOID:0080154 short chain acyl-CoA dehydrogenase deficiency A lipid metabolism disorder that is characterized by deficiency of the enzyme short chain acyl-CoA dehydrogenase that results in the inability to convert short chain fatty acids. url:http://rarediseases.org/rare-diseases/short-chain-acyl-coa-dehydrogenase-deficiency-scad/ A lipid metabolism disorder that is characterized by deficiency of the enzyme very long chain acyl-CoA dehydrogenase that results in the inability to convert very long chain fatty acids. OMIM:201475 DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency A lipid metabolism disorder that is characterized by deficiency of the enzyme very long chain acyl-CoA dehydrogenase that results in the inability to convert very long chain fatty acids. url:http://rarediseases.org/rare-diseases/very-long-chain-acyl-coa-dehydrogenase-deficiency-lcad/ url:https://ghr.nlm.nih.gov/condition/very-long-chain-acyl-coa-dehydrogenase-deficiency An adrenal cortical hypofunction that is characterized by a reduction in adrenal gland function resulting from incomplete development of the adrenal cortex and has_material_basis_in the nuclear receptor NR0B1 (DAX1) gene. OMIM:300200 congenital adrenal hypoplasia DOID:0080156 X-linked adrenal hypoplasia congenita An adrenal cortical hypofunction that is characterized by a reduction in adrenal gland function resulting from incomplete development of the adrenal cortex and has_material_basis_in the nuclear receptor NR0B1 (DAX1) gene. url:http://press.endocrine.org/doi/full/10.1210/jcem.83.8.5027 url:http://www.ncbi.nlm.nih.gov/books/NBK1431/ url:http://www.ncbi.nlm.nih.gov/pubmed/27376611 url:https://en.wikipedia.org/wiki/X-linked_adrenal_hypoplasia_congenita url:https://ghr.nlm.nih.gov/condition/x-linked-adrenal-hypoplasia-congenita#genes A keratitis that has_material_basis_in herpes simplex type infection. MESH:D007635 MESH:D016849 dendritic keratitis DOID:0080158 herpes simplex virus keratitis A keratitis that has_material_basis_in herpes simplex type infection. url:http://www.aao.org/eye-health/diseases/herpes-keratitis A fungal meningitis that has_material_basis in Crypococcus fungal infection. MESH:D016919 DOID:0080159 Cryptococcal meningitis A fungal meningitis that has_material_basis in Crypococcus fungal infection. url:https://medlineplus.gov/ency/article/000642.htm A retinitis that has_material_basis_in Cytomegalovirus. MESH:D017726 CMV retinitis DOID:0080160 Cytomegalovirus retinitis A retinitis that has_material_basis_in Cytomegalovirus. url:https://medlineplus.gov/ency/article/000665.htm A candidiasis that is characterized by Candida infection located_in the skin. MESH:D002179 DOID:0080161 cutaneous candidiasis A candidiasis that is characterized by Candida infection located_in the skin. url:https://medlineplus.gov/ency/article/000880.htm A glomerulonephritis that is characterized by inflammation of the kidneys resulting from systemic lupus erythematosus. MESH:D008181 DOID:0080162 lupus nephritis A glomerulonephritis that is characterized by inflammation of the kidneys resulting from systemic lupus erythematosus. url:https://en.wikipedia.org/wiki/Lupus_nephritis#cite_note-1 url:https://medlineplus.gov/ency/article/000481.htm An immune system disease that is characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy and has_material_basis_in autosomal recessive inheritance of homozygous loss-of-function mutations in the OTULIN gene encoding a deubiquitinase with linear linkage specificity on chromosome 5p15. OMIM:617099 autoinflammation, panniculitis and dermatosis syndrome otulin-related autoinflammatory syndrome otulipenia An immune system disease that is characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy and has_material_basis_in autosomal recessive inheritance of homozygous loss-of-function mutations in the OTULIN gene encoding a deubiquitinase with linear linkage specificity on chromosome 5p15. url:http://www.omim.org/entry/617099?search=617099&highlight=617099 url:https://www.ncbi.nlm.nih.gov/pubmed/27523608 url:https://www.ncbi.nlm.nih.gov/pubmed/27559085 url:https://www.nih.gov/news-events/news-releases/nih-researchers-discover-otulipenia-new-inflammatory-disease A myeloid neoplasm that is characterized by the formation of abnormal fusion genes that encode constitutively activated tyrosine kinases. NCI:C84270 UMLS_CUI:C2827356 Myeloid and Lymphoid Neoplasms with Eosinophilia and Rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2 Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of platelet-derived growth factor receptor alpha (PDGFRA), platelet-derived growth factor receptor beta (PDGFRB), and fibroblast growth factor receptor-1 (FGFR1) are a group of hematologic neoplasms myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 A myeloid neoplasm that is characterized by the formation of abnormal fusion genes that encode constitutively activated tyrosine kinases. url:https://www.ncbi.nlm.nih.gov/pubmed/23489324 url:https://www.ncbi.nlm.nih.gov/pubmed/?term=19357394 A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the PDGFRA gene, most often resulting in the formation of FIP1L1-PDGFRA fusion transcripts. NCI:C84275 Myeloid and Lymphoid Neoplasms with PDGFRA Rearrangement myeloid and lymphoid neoplasms associated with PDGFRA rearrangement A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the PDGFRA gene, most often resulting in the formation of FIP1L1-PDGFRA fusion transcripts. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.11d&ns=NCI_Thesaurus&code=C84275&key=n472778324&b=1&n=null A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the PDGFRB gene, most often resulting in the formation of ETV6-PDGFRB fusion transcripts. NCI:C84276 Myeloid and Lymphoid Neoplasms with PDGFRB Rearrangement myeloid neoplasms associated with PDGFRB rearrangement A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the PDGFRB gene, most often resulting in the formation of ETV6-PDGFRB fusion transcripts. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.11d&ns=NCI_Thesaurus&code=C84276&key=n472778324&b=1&n=null A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the FGFR1 gene, resulting in translocations with an 8p11 breakpoint. NCI:C84277 myeloid and lymphoid neoplasms associated with FGFR1 abnormalities A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the FGFR1 gene, resulting in translocations with an 8p11 breakpoint. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.11d&ns=NCI_Thesaurus&code=C84277&key=n472778324&b=1&n=null A tricuspid valve disease characterized by a missing or abnormally developed tricuspid heart value at birth. OMIM:605067 tricuspid atresia A tricuspid valve disease characterized by a missing or abnormally developed tricuspid heart value at birth. url:https://medlineplus.gov/ency/article/001110.htm A calcinosis that is characterized by massive periarticular, and seldom visceral, deposition of calcified tumors. OMIM:610455 normophosphatemic familial tumoral calcinosis A calcinosis that is characterized by massive periarticular, and seldom visceral, deposition of calcified tumors. url:https://en.wikipedia.org/wiki/Normophosphatemic_familial_tumoral_calcinosis url:https://www.ncbi.nlm.nih.gov/pubmed/21160498 A gastrointestinal system disease that is characterized by abnormal development of the esophagus and trachea where the upper esophagus does not connect (atresia) to the lower esophagus and stomach and may also include tracheoesophageal fistula where the esophagus and the trachea are abnormally connected which allows fluids from the esophagus to get into the airways and interfere with breathing. OMIM:189960 esophageal atresia and/or tracheoesophageal fistula tracheoesophageal fistula with or without esohageal atresia esophageal atresia/tracheoesophageal fistula A gastrointestinal system disease that is characterized by abnormal development of the esophagus and trachea where the upper esophagus does not connect (atresia) to the lower esophagus and stomach and may also include tracheoesophageal fistula where the esophagus and the trachea are abnormally connected which allows fluids from the esophagus to get into the airways and interfere with breathing. url:https://ghr.nlm.nih.gov/condition/esophageal-atresia-tracheoesophageal-fistula An inherited metabolic disease that is characterized by significantly reduced activity of an enzyme that helps the body process drugs called thiopurines. OMIM:610460 TPMT deficiency poor metabolism of thiopurines-1 thiopurine S-methyltransferase deficiency An inherited metabolic disease that is characterized by significantly reduced activity of an enzyme that helps the body process drugs called thiopurines. url:https://ghr.nlm.nih.gov/condition/thiopurine-s-methyltransferase-deficiency#statistics A physical disorder that is characterized as a spectrum of anomalies involving the urinary tract, genital tract, musculoskeletal system and sometimes the intestinal tract. OMIM:258040 ORDO:322 exstrophy-epispadias complex bladder exstrophy-epispadias-cloacal exstrophy complex A physical disorder that is characterized as a spectrum of anomalies involving the urinary tract, genital tract, musculoskeletal system and sometimes the intestinal tract. url:https://rarediseases.org/rare-diseases/bladder-exstrophy-epispadias-cloacal-exstrophy-complex/ url:https://www.ncbi.nlm.nih.gov/pubmed/?term=22055685 A bladder exstrophy-epispadias-cloacal exstrophy complex that is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall. The rear portion of the bladder wall (posterior vesical wall) turns outward (exstrophy) through an opening in the abdominal wall and urine is excreted through this opening. ICD10:Q64.1 ICD9CM:753.5 OMIM:600057 ORDO:93930 bladder exstrophy A bladder exstrophy-epispadias-cloacal exstrophy complex that is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall. The rear portion of the bladder wall (posterior vesical wall) turns outward (exstrophy) through an opening in the abdominal wall and urine is excreted through this opening. url:https://en.wikipedia.org/wiki/Bladder_exstrophy url:https://rarediseases.org/rare-diseases/bladder-exstrophy-epispadias-cloacal-exstrophy-complex/ url:https://www.ncbi.nlm.nih.gov/pubmed/?term=21929991 url:https://www.ncbi.nlm.nih.gov/pubmed/?term=22055685 A bladder exstrophy-epispadias-cloacal exstrophy complex that is characterized by a defect in the urethra, bladder and bowel. cloacal exstrophy A bladder exstrophy-epispadias-cloacal exstrophy complex that is characterized by a defect in the urethra, bladder and bowel. url:https://rarediseases.org/rare-diseases/bladder-exstrophy-epispadias-cloacal-exstrophy-complex/ A bacterial meningitis that has_material_basis_in Neisseria meningitidis infection. ICD10:A39.0 ICD9CM:036.0 MESH:D008585 meningococcal meningitis A bacterial meningitis that has_material_basis_in Neisseria meningitidis infection. url:http://www.who.int/mediacentre/factsheets/fs141/en/ url:https://en.wikipedia.org/wiki/Meningococcal_disease url:https://www.cdc.gov/meningococcal/about/symptoms.html A hepatic vascular disease that is characterized by obstruction of some of the small veins of the liver. ICD10:K76.5 MESH:D006504 veno-occlusive disease hepatic veno-occlusive disease A hepatic vascular disease that is characterized by obstruction of some of the small veins of the liver. url:https://en.wikipedia.org/wiki/Hepatic_veno-occlusive_disease A gastrointestinal system disease that is characterized by painful inflammation and ulceration of the mucous membranes lining the digestive tract. MESH:D052016 mucositis A gastrointestinal system disease that is characterized by painful inflammation and ulceration of the mucous membranes lining the digestive tract. url:https://en.wikipedia.org/wiki/Mucositis A bacterial meningitis that has_material_basis_in Haemophilus influenzae infection. ICD10:G00.0 ICD9CM:320.0 MESH:D008583 haemophilus meningitis A bacterial meningitis that has_material_basis_in Haemophilus influenzae infection. url:https://en.wikipedia.org/wiki/Haemophilus_meningitis A syndrome that is characterized in neonates by microcephaly, craniofacial disproportion, spasticity, seizures, irritability and brainstem dysfunction including feeding difficulties, ocular abnormalities and findings on neuroimaging such as calcifications, cortical disorders and ventriculomegaly and has_material_basis_in the acquisition of Zika virus infection in utero. ZIKV congenital infection Zika virus congenital syndrome A syndrome that is characterized in neonates by microcephaly, craniofacial disproportion, spasticity, seizures, irritability and brainstem dysfunction including feeding difficulties, ocular abnormalities and findings on neuroimaging such as calcifications, cortical disorders and ventriculomegaly and has_material_basis_in the acquisition of Zika virus infection in utero. url:http://www.who.int/bulletin/volumes/94/6/16-176990/en/ url:https://wwwn.cdc.gov/nndss/conditions/zika/case-definition/2016/06/ An autosomal recessive disease that is characterized by polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa and early-onset cataract. OMIM:612674 ORDO:171848 polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract PHARC syndrome An autosomal recessive disease that is characterized by polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa and early-onset cataract. url:https://www.ncbi.nlm.nih.gov/pubmed/24697911 A fibrolamellar carcinoma that is characteirzed by the presence of both pure fibrolamellar hepatocellular carcinoma and and conventional hepatocellular carcinoma components. mixed fibrolamellar hepatocellular carcinoma A fibrolamellar carcinoma that is characteirzed by the presence of both pure fibrolamellar hepatocellular carcinoma and and conventional hepatocellular carcinoma components. url:https://wjso.biomedcentral.com/articles/10.1186/s12957-016-0903-8 url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4880064/ An autosomal recessive disorder characterized by cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal and genitourinary malformations, oral clefting, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21, the FREM2 gene on chromosome 13q13, or the GRIP1 gene on chromosome 12q14. ICD10CM:Q87.0 OMIM:219000 ORDO:2052 cryptophthalmos with other malformations doid DOID:0090001 Fraser syndrome An autosomal recessive disorder characterized by cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal and genitourinary malformations, oral clefting, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21, the FREM2 gene on chromosome 13q13, or the GRIP1 gene on chromosome 12q14. url:https://www.ncbi.nlm.nih.gov/pubmed/12766769 url:https://www.ncbi.nlm.nih.gov/pubmed/15838507 url:https://www.ncbi.nlm.nih.gov/pubmed/16894541 url:https://www.ncbi.nlm.nih.gov/pubmed/22510445 A genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair that has_material_basis_in mutation in the MITF gene on chromosome 3p13. OMIM:103500 ORDO:42665 Tietz albinism-deafness syndrome albinism-deafness of Tietz hypopigmentation/deafness of Tietz doid DOID:0090002 Tietz syndrome A genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair that has_material_basis_in mutation in the MITF gene on chromosome 3p13. url:https://www.ncbi.nlm.nih.gov/pubmed/13985019 url:https://www.ncbi.nlm.nih.gov/pubmed/8589691 A neurodegenerative disease characterized by autosomal recessive inheritance with early onset of severe sensory-motor polyneuropathy, variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A6 gene on chromosome 15q14. ICD10CM:G60.0 OMIM:218000 ORDO:1496 Andermann syndrome Charlevoix disease corpus callosum agenesis-neuronopathy syndrome doid DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy A neurodegenerative disease characterized by autosomal recessive inheritance with early onset of severe sensory-motor polyneuropathy, variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A6 gene on chromosome 15q14. url:https://www.ncbi.nlm.nih.gov/pubmed/12368912 url:https://www.ncbi.nlm.nih.gov/pubmed/12838516 A osteochondrodysplasia characterized by autosomal recessive inheritance with typical onset around 3 years of age, progressive severe degenerative joint disease, platyspondyly, epiphyseal enlargement but absence of inflammatory joint disease that has_material_basis_in homozygous or compound heterozygous mutation in the CHST3 gene on chromosome 10q22. ICD10CM:Q77.7 OMIM:208230 ORDO:1159 spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome doid DOID:0090004 progressive pseudorheumatoid arthropathy of childhood A osteochondrodysplasia characterized by autosomal recessive inheritance with typical onset around 3 years of age, progressive severe degenerative joint disease, platyspondyly, epiphyseal enlargement but absence of inflammatory joint disease that has_material_basis_in homozygous or compound heterozygous mutation in the CHST3 gene on chromosome 10q22. url:https://www.ncbi.nlm.nih.gov/pubmed/15215498 url:https://www.ncbi.nlm.nih.gov/pubmed/15601861 url:https://www.ncbi.nlm.nih.gov/pubmed/6807993 An autosomal recessive disease characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36. ICD10CM:G71.1 OMIM:255800 ORDO:800 Aberfeld syndrome Burton skeletal dysplasia Burton syndrome Catel-Hempel syndrome Catel-Hempel type dysostosis enchondralis metaepiphysaria Schwartz-Jampel syndrome type 1 Schwartz-Jampel-Aberfeld syndrome myotonic chondrodystrophy myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies osteochondromuscular dystrophy doid DOID:0090005 Schwartz-Jampel syndrome 1 An autosomal recessive disease characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36. url:https://www.ncbi.nlm.nih.gov/pubmed/11941538 url:https://www.ncbi.nlm.nih.gov/pubmed/1552548 url:https://www.ncbi.nlm.nih.gov/pubmed/18647752 An autosomal dominant disease characterized by optic nerve coloboma and renal disease that has_material_basis_in heterozygous mutation in the PAX2 gene on chromosome 10q24. ICD10CM:Q60.4 OMIM:120330 ORDO:1475 CAKUT with or without ocular abnormalities coloboma of optic nerve with renal disease congenital anomalies of the kidney and urinary tract with or without ocular abnormalities optic coloboma, vesicoureteral reflux and renal anomalies papillo-renal syndrome, optic nerve coloboma with renal disease papillorenal syndrome renal-coloboma syndrome with macular abnormalities doid DOID:0090006 renal coloboma syndrome An autosomal dominant disease characterized by optic nerve coloboma and renal disease that has_material_basis_in heterozygous mutation in the PAX2 gene on chromosome 10q24. url:https://www.ncbi.nlm.nih.gov/pubmed/10466411 url:https://www.ncbi.nlm.nih.gov/pubmed/7795640 An autosomal recessive disease characterized by immunodeficiency, rearrangements in the vicinity of the centromeres of chromosomes 1, 9, and 16 and facial anomalies in most cases. ICD10CMD84.8 OMIM:PS242860 ORDO:2268 ICF syndrome doid DOID:0090007 immunodeficiency-centromeric instability-facial anomalies syndrome An autosomal recessive disease characterized by immunodeficiency, rearrangements in the vicinity of the centromeres of chromosomes 1, 9, and 16 and facial anomalies in most cases. url:https://www.ncbi.nlm.nih.gov/pubmed/17893117 url:https://www.ncbi.nlm.nih.gov/pubmed/26216346 An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism and immunoglobulin deficiency of lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in the DNMT3B gene on chromosome 20q11.2. ICD10CMD84.8 OMIM:242860 ICF syndrome 1 doid DOID:0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism and immunoglobulin deficiency of lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in the DNMT3B gene on chromosome 20q11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/10647011 url:https://www.ncbi.nlm.nih.gov/pubmed/17893117 An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the ZBTB24 gene on chromosome 6q21. ICD10CMD84.8 OMIM:614069 ICF syndrome 2 doid DOID:0090009 immunodeficiency-centromeric instability-facial anomalies syndrome 2 An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the ZBTB24 gene on chromosome 6q21. url:https://www.ncbi.nlm.nih.gov/pubmed/21596365 An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, recurrent infections in childhood and variable dysmorphic facial features that has_material_basis_in homozygous mutation in the CDCA7 gene on chromosome 2q31. ICD10CMD84.8 OMIM:616910 ICF syndrome 3 doid DOID:0090010 immunodeficiency-centromeric instability-facial anomalies syndrome 3 An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, recurrent infections in childhood and variable dysmorphic facial features that has_material_basis_in homozygous mutation in the CDCA7 gene on chromosome 2q31. url:https://www.ncbi.nlm.nih.gov/pubmed/26216346 An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, recurrent infections in childhood and variable dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the HELLS gene on chromosome 10q23. ICD10CMD84.8 OMIM:616911 ICF syndrome 4 doid DOID:0090011 immunodeficiency-centromeric instability-facial anomalies syndrome 4 An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, recurrent infections in childhood and variable dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the HELLS gene on chromosome 10q23. url:https://www.ncbi.nlm.nih.gov/pubmed/26216346 A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive with sensitivity to ionizing radiation and that has_material_basis_in mutation in the DCLRE1C gene on chromosome 10p13. ICD10CM:D81.1 OMIM:602450 ORDO:275 SCID due to DCLRE1C deficiency SCID due to artemis deficiency SCID, Athabascan type SCID, Athabaskan type Severe combined immunodeficiency due to DCLRE1C deficiency Severe combined immunodeficiency due to artemis deficiency Severe combined immunodeficiency, Athabascan type Severe combined immunodeficiency, Athabaskan type doid DOID:0090012 severe combined immunodeficiency with sensitivity to ionizing radiation A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive with sensitivity to ionizing radiation and that has_material_basis_in mutation in the DCLRE1C gene on chromosome 10p13. url:https://www.ncbi.nlm.nih.gov/pubmed/11336668 A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive and that has_material_basis_in mutation in the RAG1 and RAG2 genes on chromosome 11p12. ICD10CM:D81.1 OMIM:601457 ORDO:331206 SCID due to complete RAG1-2 deficiency Severe combined immunodeficiency due to complete RAG1-2 deficiency doid DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive and that has_material_basis_in mutation in the RAG1 and RAG2 genes on chromosome 11p12. url:https://www.ncbi.nlm.nih.gov/pubmed/1940786 A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has_material_basis_in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31. ICD10CM:D81.2 OMIM:608971 ORDO:169154 autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID doid DOID:0090014 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has_material_basis_in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31. url:https://www.ncbi.nlm.nih.gov/pubmed/9068311 url:https://www.ncbi.nlm.nih.gov/pubmed/9843216 A dysostosis characterized by syndactyly, malformation of the forearm and lower limb bones, renal hypoplasia or aplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the LRP4 gene on chromosome 11p11. ICD10CM:Q78.4 OMIM:212780 ORDO:3258 syndactyly type 7 doid DOID:0090015 Cenani-Lenz syndactyly syndrome A dysostosis characterized by syndactyly, malformation of the forearm and lower limb bones, renal hypoplasia or aplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the LRP4 gene on chromosome 11p11. url:https://www.ncbi.nlm.nih.gov/pubmed/18978656 url:https://www.ncbi.nlm.nih.gov/pubmed/20381006 url:https://www.ncbi.nlm.nih.gov/pubmed/6279340 A chromosome deletion syndrome characterized by severe macrocytic anemia erythroid hypoplasia in the bone marrow, hypolobated micromegakaryocytes and that has_material_basis_in somatic deletion of 1 allele of the RPS14, MIR145, MIR146A and/or DDX41 genes on chromosome 5q. ICD10CM:D46.7 OMIM:153550 ORDO:86841 5q- syndrome, refractory macrocytic anemia due to 5q deletion myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality doid DOID:0090016 chromosome 5q deletion syndrome A chromosome deletion syndrome characterized by severe macrocytic anemia erythroid hypoplasia in the bone marrow, hypolobated micromegakaryocytes and that has_material_basis_in somatic deletion of 1 allele of the RPS14, MIR145, MIR146A and/or DDX41 genes on chromosome 5q. url:https://www.ncbi.nlm.nih.gov/pubmed/18202658 url:https://www.ncbi.nlm.nih.gov/pubmed/19898489 url:https://www.ncbi.nlm.nih.gov/pubmed/25920683 An autosomal recessive disease characterized early childhood onset of progressive muscular dystrophy and blistering skin changes and that has_material_basis_in homozygous or compound heterozygous mutation in the PLEC gene on chromosome 8q24. ICD10CM:Q81.0 OMIM:226670 ORDO:257 epidermolysis bullosa simplex and limb-girdle muscular dystrophy limb-girdle muscular dystrophy with epidermolysis bullosa simplex doid DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy An autosomal recessive disease characterized early childhood onset of progressive muscular dystrophy and blistering skin changes and that has_material_basis_in homozygous or compound heterozygous mutation in the PLEC gene on chromosome 8q24. url:https://www.ncbi.nlm.nih.gov/pubmed/2662909 url:https://www.ncbi.nlm.nih.gov/pubmed/8696340 A characterized by autosomal dominant inheritance of recurrent fever, abdominal pain, localized tender skin lesions, arthralgia and myalgia associated with skin, joint, ocular and serosal inflammation that has_material_basis_in heterozygous mutation in the TNFRSF1A gene on chromosome 12p13. ICD10CM:E85.0 OMIM:142680 ORDO:32960 TNF receptor 1-associated periodic syndrome familial hibernian fever tumor necrosis factor receptor 1 associated periodic syndrome doid DOID:0090018 autosomal dominant familial periodic fever A characterized by autosomal dominant inheritance of recurrent fever, abdominal pain, localized tender skin lesions, arthralgia and myalgia associated with skin, joint, ocular and serosal inflammation that has_material_basis_in heterozygous mutation in the TNFRSF1A gene on chromosome 12p13. url:https://www.ncbi.nlm.nih.gov/pubmed/10199409 url:https://www.ncbi.nlm.nih.gov/pubmed/7156325 A characterized by autosomal recessive inheritance of unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules resulting in xanthomas, arthralgia, premature atherosclerosis, and hemolytic anemia with stomatocytosis and macrothrombocytopenia that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG8 gene or in the ABCG5 gene, both of which are located on chromosome 2p21. ICD10CM:E78.0 MESH:C537345 OMIM:210250 ORDO:2882 UMLS_CUI:C0342907 phytosterolemia doid DOID:0090019 sitosterolemia A characterized by autosomal recessive inheritance of unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules resulting in xanthomas, arthralgia, premature atherosclerosis, and hemolytic anemia with stomatocytosis and macrothrombocytopenia that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG8 gene or in the ABCG5 gene, both of which are located on chromosome 2p21. url:https://www.ncbi.nlm.nih.gov/pubmed/11099417 url:https://www.ncbi.nlm.nih.gov/pubmed/11138003 A bone development disease characterized by malformation of the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients also have mental retardation, ectodermal and craniofacial findings, and orofacial clefting. ICD10CM:Q71.6 OMIM:PS183600 ORDO:2440 UMLS_CUI:C0265554 lobster-claw deformity split-hand deformity doid DOID:0090020 split hand-foot malformation A bone development disease characterized by malformation of the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients also have mental retardation, ectodermal and craniofacial findings, and orofacial clefting. url:https://www.ncbi.nlm.nih.gov/pubmed/12668597 url:https://www.ncbi.nlm.nih.gov/pubmed/7802032 A split-hand/foot malformation that has_material_basis_in contiguous gene mutations caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the DSS1, DLX5, and DLX6 genes and possible regulatory elements in the region. ICD10CM:Q71.6 OMIM:183600 ORDO:2440 SHFD1 SHFM1 doid DOID:0090021 split hand-foot malformation 1 A split-hand/foot malformation that has_material_basis_in contiguous gene mutations caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the DSS1, DLX5, and DLX6 genes and possible regulatory elements in the region. url:https://www.ncbi.nlm.nih.gov/pubmed/24496061 url:https://www.ncbi.nlm.nih.gov/pubmed/7616545 A split-hand/foot malformation that has_material_basis_in deletions in the chromosome region 2q31. ICD10CM:Q71.6 OMIM:606708 ORDO:2440 UMLS_CUI:C0265554 SHFM5 doid DOID:0090022 split hand-foot malformation 5 A split-hand/foot malformation that has_material_basis_in deletions in the chromosome region 2q31. url:https://www.ncbi.nlm.nih.gov/pubmed/10364522 A split-hand/foot malformation that has_material_basis_in heterozygous mutation in the TP63 on chromosome 3q28. ICD10CM:Q71.6 OMIM:605289 ORDO:2440 UMLS_CUI:C0265554 SHFM4 doid DOID:0090023 split hand-foot malformation 4 A split-hand/foot malformation that has_material_basis_in heterozygous mutation in the TP63 on chromosome 3q28. url:https://www.ncbi.nlm.nih.gov/pubmed/10839977 A split-hand/foot malformation characterized by split-hand/foot malformation and sensorineural hearing impairment that has_material_basis_in homozygous mutation in the DLX5 gene on chromosome 7q21. ICD10CM:Q87.2 OMIM:220600 ORDO:71271 SHFM1D congenital deafness with split hands and feet doid DOID:0090024 split hand-foot malformation 1 with sensorineural hearing loss A split-hand/foot malformation characterized by split-hand/foot malformation and sensorineural hearing impairment that has_material_basis_in homozygous mutation in the DLX5 gene on chromosome 7q21. url:https://www.ncbi.nlm.nih.gov/pubmed/22121204 A split-hand/foot malformation that has_material_basis_in a contiguous gene duplication syndrome on chromosome 10q24 ICD10CM:Q71.6 OMIM:246560 ORDO:2440 UMLS_CUI:C0265554 SHFM3 chromosome 10q24 duplication syndrome distal limb deficiencies with micrognathia doid DOID:0090025 split hand-foot malformation 3 A split-hand/foot malformation that has_material_basis_in a contiguous gene duplication syndrome on chromosome 10q24 url:https://www.ncbi.nlm.nih.gov/pubmed/14699611 A split-hand/foot malformation that has_material_basis_in homozygous mutation in the WNT10B gene on chromosome 12q13. ICD10CM:Q71.6 OMIM:225300 ORDO:2440 UMLS_CUI:C0265554 SHFM6 doid DOID:0090026 split hand-foot malformation 6 A split-hand/foot malformation that has_material_basis_in homozygous mutation in the WNT10B gene on chromosome 12q13. url:https://www.ncbi.nlm.nih.gov/pubmed/18515319 A split-hand/foot malformation that has_material_basis_in variation in the chromosome region Xq26. ICD10CM:Q71.6 OMIM:313350 ORDO:2440 UMLS_CUI:C0265554 SHFM2 doid DOID:0090027 split hand-foot malformation 2 A split-hand/foot malformation that has_material_basis_in variation in the chromosome region Xq26. url:https://www.ncbi.nlm.nih.gov/pubmed/15617554 A vitamin metabolic disorder characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and marked deficiency in vitamin E that has_material_basis_in homozygous or compound heterozygous mutation in the TTPA gene on chromosome 8q12. ICD10CM:G11.1 MESH:C535393 OMIM:277460 ORDO:96 UMLS_CUI:C1848533 ataxia with isolated vitamin E deficiency familial isolated vitamin E deficiency doid DOID:0090028 familial isolated deficiency of vitamin E A vitamin metabolic disorder characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and marked deficiency in vitamin E that has_material_basis_in homozygous or compound heterozygous mutation in the TTPA gene on chromosome 8q12. url:https://www.ncbi.nlm.nih.gov/pubmed/2298915 url:https://www.ncbi.nlm.nih.gov/pubmed/7719340 A hypersensitivity reaction type II disease characterized by neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q. ICD10CM:E85.0 OMIM:607115 ORDO:1451 IOMID syndrome NOMID syndrome Prieur-Griscelli syndrome chronic infantile neurological cutaneous articular syndrome chronic neurologic cutaneous and articular syndrome cryopyrin-associated periodic syndrome 3 infantile-onset multisystem inflammatory disease neonatal-onset multisystem inflammatory disease doid DOID:0090029 CINCA Syndrome A hypersensitivity reaction type II disease characterized by neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q. url:https://www.ncbi.nlm.nih.gov/pubmed/12032915 url:https://www.ncbi.nlm.nih.gov/pubmed/7252669 An adrenal gland disease characterized by decreased levels of serum corticosteroid-binding globulin and cortisol, and in some cases hypo- or hypertension, and muscle fatigue that has_material_basis_in heterozygous or homozygous mutation in the SERPINA6 gene on chromosome 14q32. ICD10CM:E27.8 OMIM:611489 ORDO:199247 CBG deficiency transcortin deficiency doid DOID:0090030 corticosteroid-binding globulin deficiency An adrenal gland disease characterized by decreased levels of serum corticosteroid-binding globulin and cortisol, and in some cases hypo- or hypertension, and muscle fatigue that has_material_basis_in heterozygous or homozygous mutation in the SERPINA6 gene on chromosome 14q32. url:https://www.ncbi.nlm.nih.gov/pubmed/10634411 url:https://www.ncbi.nlm.nih.gov/pubmed/7061486 A peroxisomal disease characterized by, in severe cases, infantile-onset of hypotonia, seizures, and abnormal facial features with most dieing before age 2 years that has_material_basis_in homozygous or compound heterozygous mutation in the HSD17B4 gene on chromosome 5q2. ICD10CM:E71.3 OMIM:261515 ORDO:300 doid DOID:0090031 D-bifunctional protein deficiency An osteochondrodysplasia characterized by short-limbed dwarfism, anisospondyly, and neonatal lethality that has_material_basis_in homozygous or compound heterozygous mutation in the HSPG2 gene on chromosome 1p36. ICD10CM:Q77.7 OMIM:224410 ORDO:1865 doid DOID:0090032 Silverman-Handmaker type dyssegmental dysplasia A dystonia characterized by myoclonic jerks affecting mostly proximal muscles and dystonia, usually torticollis or writer's cramp, that typically responds to alcohol and has onset in the first of second decade of life. doid DOID:0090033 myoclonic dystonia A myoclonic dystonia characterized by autosomal dominant inheritance and association with psychiatric disorder that has_material_basis_in heterozygous mutation in the SGCE gene on chromosome 7q21. ICD10CM:G24.1 OMIM:159900 ORDO:36899 doid DOID:0090034 myoclonic dystonia 11 A myoclonic dystonia characterized by autosomal dominant inheritance that has_material_basis_in variation in the chromosome region 18p11. OMIM:607488 ORDO:210566 doid DOID:0090035 myoclonic dystonia 15 A myoclonic dystonia characterized by autosomal dominant inheritance of myoclonic jerks affecting the upper limbs with onset in the first or second decade of life and progressive development that has_material_basis_in heterozygous mutation in the KCTD17 gene on chromosome 22q12. OMIM:616398 doid DOID:0090036 myoclonic dystonia 26 A dystonia characterized by autosomal dominant inheritance of focal or segmental dystonia with cranial, cervical, or upper limb involvement that has_material_basis_in variation in the chromosome region 1p36.32-p36.13. ICD10CM:G24.1 OMIM:607671 ORDO:98807 doid DOID:0090037 torsion dystonia 13 A dystonia characterized by autosomal recessive inheritance of dystonia initially of the distal limbs and later involving the neck, orofacial, and craniocervical regions that has_material_basis_in homozygous or compound heterozygous mutation in the HPCA gene on chromosome 1p35. ICD10CM:G24.1 OMIM:224500 ORDO:99657 doid DOID:0090038 torsion dystonia 2 A characterized by autosomal dominant inheritance of early-onset generalised dystonia typically involing the craniocervical region with spasmodic dysphonia that has_material_basis_in heterozygous mutation in the THAP1 gene on chromosome 8p11. ICD10CM:G24.1 OMIM:602629 ORDO:98806 doid DOID:0090039 torsion dystonia 6 A focal dystonia characterized by predomiantly cervical dystonia that has_material_basis_in variation in the chromosome region 18p. OMIM:602124 doid DOID:0090040 torsion dystonia 7 A dystonia characterized by autosomal dominant inheritance of progressive laryngeal and cervical dystonia (onset in the second to third decade of life) followed by involvement of other muscles, such as the neck or limbs that has_material_basis_in heterozygous mutation in the TUBB4A gene on chromosome 19p13. ICD10CM:G24.1 OMIM:128101 ORDO:98805 doid DOID:0090041 torsion dystonia 4 A dystonia characterized by autosomal recessive inheritance of progressive dystonia, dysphonia, dysarthria and neck torticollis that has_material_basis_in variation in the chromosome region 20p11.2-q13.12. ICD10CM:G24.1 OMIM:612406 ORDO:370103 doid DOID:0090042 torsion dystonia 17 A dystonia characterized by autosomal dominant inheritance of childhood-onset dystonia that responds to low doses of levodopa (L-dopa) and may be associated with parkinsonism at an older age and has_material_basis_in heterozygous mutation in the GCH1 gene on chromosome 14q13. ICD10CM:G24.1 OMIM:128230 ORDO:98808 doid DOID:0090043 dystonia 5 A dystonia characterized by autosomal dominant inheritance of paroxysmal choreoathetosis and progressive spastic paraplegia, episodes are often precipitated by alcohol, fatigue, or emotional stress that has_material_basis_in heterozygous mutation in the SLC2A1 gene on chromosome 1p34. ICD10CM:G24.8 OMIM:601042 ORDO:53583 doid DOID:0090044 dystonia 9 A dystonia characterized by autosomal dominant inheritance of paroxysmal exercise-induced dyskinesia involving transient abnormal involuntary movements in the exercised limbs that has_material_basis_in heterozygous mutation in the SLC2A1 gene on chromosome 1p34. ICD10CM:G24.8 OMIM:612126 ORDO:98811 doid DOID:0090045 childhood onset GLUT1 deficiency syndrome 2 A dystonia characterized by autosomal dominant inheritance of late onset pure torsion dystonia that has_material_basis_in variation in the chromosome region 2q14.3-q21.3. ICD10CM:G24.1 OMIM:614588 ORDO:306734 doid DOID:0090046 dystonia 21 A dystonia characterized by autosomal dominant inheritance of attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that has_material_basis_in variation in the chromosome region 2q31. ICD10CM:G24.8 OMIM:611147 ORDO:98810 doid DOID:0090047 paroxysmal nonkinesigenic dyskinesia 2 A multifocal dystonia characterized by autosomal recessive inheritance of early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism that has_material_basis_in homozygous mutation in the PRKRA gene on chromosome 2q31. ICD10CM:G24.1 OMIM:612067 ORDO:210571 doid DOID:0090048 dystonia 16 A dystonia characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that has_material_basis_in heterozygous mutation in the MR1 gene on chromosome 2q35. ICD10CM:G24.8 OMIM:118800 ORDO:98810 doid DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 A segmental dystonia characterized by autosomal recessive inheritance of segmental isolated dystonia mainly affecting the craniocervical region and upper limbs with onset in the first 2 decades of life that has_material_basis_in compound heterozygous mutation in the COL6A3 gene on chromosome 2q37. ICD10CM:G24.1 OMIM:616411 ORDO:464440 doid DOID:0090050 dystonia 27 A focal dystonia characterized by autosomal dominant inheritance of adult-onset cervical dystonia with onset typically in the fourth or fifth decade of life that has_material_basis_in heterozygous mutation in the CACNA1B gene on chromosome 9q34. ICD10CM:G24.8 OMIM:614860 ORDO:420492 doid DOID:0090051 dystonia 23 A focal dystonia characterized by autosomal dominant inheritance of focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs that has_material_basis_in heterozygous mutation in the ANO3 gene on chromosome 11p14. ICD10CM:G24.8 OMIM:615034 ORDO:420485 doid DOID:0090052 dystonia 24 A dystonia characterized by autosomal dominant inheritance of recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in heterozygous mutation in the PRRT2 gene on chromosome 16p11. ICD10CM:G24.8 OMIM:128200 ORDO:98809 doid DOID:0090053 episodic kinesigenic dyskinesia 1 A dystonia characterized by autosomal dominant inheritance of recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in variation in the chromosome region 16q13-q22.1. ICD10CM:G24.8 OMIM:611031 ORDO:98809 doid DOID:0090054 episodic kinesigenic dyskinesia 2 A multifocal dystonia characterized by autosomal dominant inheritance of cervical, laryngeal and hand-forearm dystonia that has_material_basis_in heterozygous mutation in the GNAL gene on chromosome 18p11. ICD10CM:G24.1 OMIM:615073 ORDO:329466 doid DOID:0090055 dystonia 25 A dystonia characterized by autosomal dominant inheritance of asymmetric dystonia and parkinsonism with abrupt onset in young adulthood that has_material_basis_in heterozygous mutation in the ATP1A3 gene on chromosome 19q13. ICD10CM:G24.1 OMIM:128235 ORDO:71517 doid DOID:0090056 dystonia 12 A focal dystonia characterized by parkinsonism that is frequently accompanied by focal dystonia and progresses to generalized dystonia that has_material_basis_in an SVA retrotransposon insertion in the intron of the TAF1 gene on chromosome Xq13.1. ICD10CM:G24.1 OMIM:314250 ORDO:53351 doid DOID:0090057 X-linked dystonia-parkinsonism A dystonia characterized by autosomal dominant inheritance of generalized dystonia with severe involvement of the legs, mild involvement of the face and arms, and onset in infancy. ICD10CM:G24.1 OMIM:602554 ORDO:256 doid DOID:0090058 torsion dystonia with onset in infancy A retinal disease characterized by autosomal recessive inheritance of early onset night blindness, hypersensitivity to blue light, and in some cases a more general retinal degeneration that has_material_basis_in homozygous or compound heterozygous mutation in the NR2E3 gene on chromosome 15q23. OMIM:268100 doid DOID:0090059 enhanced S-cone syndrome A characterized by autosomal recessive inheritance of permanent neonatal diabetes mellitus with multiple epiphyseal dysplasia, osteoporosis, growth retardation and frequently hepatic and renal dysfunction that has_material_basis_in homozygous mutation in the EIF2AK3 gene on chromosome 2p11.2. ICD10CM:E13 OMIM:226980 ORDO:1667 doid DOID:0090060 Wolcott-Rallison syndrome A primary immunodeficiency disease characterized by recurrent episodes of maculopapular skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia. ICD10CM:L50.2 OMIM:PS120100 ORDO:47045 doid DOID:0090061 familial cold autoinflammatory syndrome A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP gene on chromosome 1q44. ICD10CM:L50.2 OMIM:120100 ORDO:47045 doid DOID:0090062 familial cold autoinflammatory syndrome 1 A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP12 gene on chromosome 19q13. ICD10CM: OMIM:611762 doid DOID:0090063 familial cold autoinflammatory syndrome 2 A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance of development of cutaneous urticaria, erythema, and pruritus in response to cold exposure that has_material_basis_in heterozygous deletion within the PLCG2 gene on chromosome 16q. ICD10CM:L50.2 OMIM:614468 ORDO:300359 doid DOID:0090064 familial cold autoinflammatory syndrome 3 A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance of episodic high fevers, urticaria-like rash, and arthralgias starting at 2-3 months of age and often induced by cold-exposure that has_material_basis_in heterozygous mutation in the NLRC4 gene on chromosome 2p22. ICD10CM:L50.2 OMIM:616115 ORDO:47045 doid DOID:0090065 familial cold autoinflammatory syndrome 4 A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies. OMIM:227850 doid DOID:0090066 Fanconi-like syndrome A bone development disease characterized by autosomal recessive inheritance of bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly that has_material_basis_in homozygous mutation in the WNT7A gene on chromosome 3p25. ICD10CM:Q74.8 OMIM:228930 ORDO:2854 doid DOID:0090067 Fuhrmann syndrome An axonal neuopathy characterized by autosomal recessive inheritance of progressive motor and sensitive peripheral, central nervous system neuropathy.with axonal loss and giant axonal swellings filled with neurofilaments that has_material_basis_in homozygous or compound heterozygous mutation in the GAN gene on chromosome 16q23 OMIM:256850 ORDO:643 doid DOID:0090068 giant axonal neuropathy 1 An axonal neuopathy characterized by autosomal dominant inheritance of distal sensory impairment, lower extremity muscle weakness and atrophy, and giant axonal swelling with neurofilament accumulation that has_material_basis_in heterozygous mutation in the DCAF8 gene on chromosome 1q23 OMIM:610100 doid DOID:0090069 giant axonal neuropathy 2 A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone. ICD10CM:E23.0 OMIM:PS147950 ORDO:432 ORDO:478 congenital idiopathic hypogonadotropic hypogonadism isolated congenital gonadotropin deficiency doid DOID:0090070 hypogonadotropic hypogonadism A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone. url:https://www.ncbi.nlm.nih.gov/pubmed/17761590 A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the TACR3 gene on chromosome 4q24. ICD10CM:E23.0 OMIM:614840 doid DOID:0090071 hypogonadotropic hypogonadism 11 with or without anosmia A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the TACR3 gene on chromosome 4q24. url:https://www.ncbi.nlm.nih.gov/pubmed/19079066 A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the GNRH1 gene on chromosome 8p21. ICD10CM:E23.0 OMIM:614841 familial hypogonadotrophic eunuchoidism familial idiopathic gonadotrpin deficiency doid DOID:0090072 hypogonadotropic hypogonadism 12 with or without anosmia A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the GNRH1 gene on chromosome 8p21. url:https://www.ncbi.nlm.nih.gov/pubmed/19535795 A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the KISS1 gene on chromosome 1q32. ICD10CM:E23.0 OMIM:614842 doid DOID:0090073 hypogonadotropic hypogonadism 13 with or without anosmia A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the KISS1 gene on chromosome 1q32. url:https://www.ncbi.nlm.nih.gov/pubmed/22335740 A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the KISS1R gene on chromosome 19p13, sometimes in association with mutation in other genes. ICD10CM:E23.0 OMIM:614837 doid DOID:0090074 hypogonadotropic hypogonadism 8 with or without anosmia A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the KISS1R gene on chromosome 19p13, sometimes in association with mutation in other genes. url:https://www.ncbi.nlm.nih.gov/pubmed/14573733 url:https://www.ncbi.nlm.nih.gov/pubmed/23643382 A hypogonadotropic hypogonadism that has_material_basis_in mutation in the HS6ST1 gene on chromosome 2q14, sometimes in association with mutations in other genes. ICD10CM:23.0 OMIM:614880 doid DOID:0090075 hypogonadotropic hypogonadism 15 with or without anosmia A hypogonadotropic hypogonadism that has_material_basis_in mutation in the HS6ST1 gene on chromosome 2q14, sometimes in association with mutations in other genes. url:https://www.ncbi.nlm.nih.gov/pubmed/21700882 url:https://www.ncbi.nlm.nih.gov/pubmed/23643382 A hypogonadotropic hypogonadism that has_material_basis_in heterozygous or homozygous mutation in the IL17RD gene on chromosome 3p14, sometimes in association with mutation in other genes. ICD10CM:E23.0 OMIM:615267 doid DOID:0090076 hypogonadotropic hypogonadism 18 with or without anosmia A hypogonadotropic hypogonadism that has_material_basis_in heterozygous or homozygous mutation in the IL17RD gene on chromosome 3p14, sometimes in association with mutation in other genes. url:https://www.ncbi.nlm.nih.gov/pubmed/23643382 A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the prokineticin-2 gene (PROK2) on chromosome 3p13, sometimes in association with mutation in another gene. ICD10CM:E23.0 OMIM:610628 doid DOID:0090077 hypogonadotropic hypogonadism 4 with or without anosmia A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the prokineticin-2 gene (PROK2) on chromosome 3p13, sometimes in association with mutation in another gene. url:https://www.ncbi.nlm.nih.gov/pubmed/17054399 url:https://www.ncbi.nlm.nih.gov/pubmed/18559922 A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported. ICD10CM:E23.0 OMIM:146110 doid DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported. url:https://www.ncbi.nlm.nih.gov/pubmed/17235395 url:https://www.ncbi.nlm.nih.gov/pubmed/9371856 A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the SPRY4 gene on chromosome 5q31, sometimes in association with mutations in other genes. ICD10CM:E23.0 OMIM:615266 doid DOID:0090079 hypogonadotropic hypogonadism 17 with or without anosmia A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the SPRY4 gene on chromosome 5q31, sometimes in association with mutations in other genes. url:https://www.ncbi.nlm.nih.gov/pubmed/23643382 A hypogonadotropic hypogonadism that has_material_basis_in mutation in the SEMA3A gene on chromosome 7, sometimes in association with mutations in other genes. ICD10CM:E23.0 OMIM:614897 doid DOID:0090080 hypogonadotropic hypogonadism 16 with or without anosmia A hypogonadotropic hypogonadism that has_material_basis_in mutation in the SEMA3A gene on chromosome 7, sometimes in association with mutations in other genes. url:https://www.ncbi.nlm.nih.gov/pubmed/22416012 url:https://www.ncbi.nlm.nih.gov/pubmed/22927827 A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the FEZF1 gene on chromosome 7q31. ICD10CM:E23.0 OMIM:616030 doid DOID:0090081 hypogonadotropic hypogonadism 22 with or without anosmia A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the FEZF1 gene on chromosome 7q31. url:https://www.ncbi.nlm.nih.gov/pubmed/25192046 A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGF17 gene on chromosome 8p21, sometimes in association with mutations in other genes. ICD10CM:E23.0 OMIM:615270 doid DOID:0090082 hypogonadotropic hypogonadism 20 with or without anosmia A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGF17 gene on chromosome 8p21, sometimes in association with mutations in other genes. url:https://www.ncbi.nlm.nih.gov/pubmed/23643382 A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes. ICD10CM:E23.0 OMIM:147950 doid DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes. url:https://www.ncbi.nlm.nih.gov/pubmed/12627230 url:https://www.ncbi.nlm.nih.gov/pubmed/20696889 A hypogonadotropic hypogonadism that is characterised by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the CHD7 gene on chromosome 8q12. ICD10CM:E23.0 OMIM:612370 doid DOID:0090084 hypogonadotropic hypogonadism 5 with or without anosmia A hypogonadotropic hypogonadism that is characterised by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the CHD7 gene on chromosome 8q12. url:https://www.ncbi.nlm.nih.gov/pubmed/18834967 A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the NELF gene on chromosome 9q34, sometimes in association with mutation in another gene. ICD10CM:E23.0 OMIM:614838 doid DOID:0090085 hypogonadotropic hypogonadism 9 with or without anosmia A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the NELF gene on chromosome 9q34, sometimes in association with mutation in another gene. url:https://www.ncbi.nlm.nih.gov/pubmed/15362570 url:https://www.ncbi.nlm.nih.gov/pubmed/17235395 A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the FGF8 gene on chromosome 10q24, sometimes in association with mutation in another gene. ICD10CM:E23.0 OMIM:612702 doid DOID:0090086 hypogonadotropic hypogonadism 6 with or without anosmia A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the FGF8 gene on chromosome 10q24, sometimes in association with mutation in another gene. url:https://www.ncbi.nlm.nih.gov/pubmed/18596921 A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the WDR11 gene on chromosome 10q26. ICD10CM:E23.0 OMIM:614858 doid DOID:0090087 hypogonadotropic hypogonadism 14 with or without anosmia A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the WDR11 gene on chromosome 10q26. url:https://www.ncbi.nlm.nih.gov/pubmed/20887964 A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the FSHB gene on chromosome 11p14. ICD10CM:E23.6 OMIM:229070 ORDO:52901 isolated follicle-stimulating hormone deficiency doid DOID:0090088 hypogonadotropic hypogonadism 24 without anosmia A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the FSHB gene on chromosome 11p14. url:https://www.ncbi.nlm.nih.gov/pubmed/8220432 url:https://www.ncbi.nlm.nih.gov/pubmed/9271483 A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the TAC3 gene on chromosome 12q13. ICD10CM:E23.0 OMIM:614839 doid DOID:0090089 hypogonadotropic hypogonadism 10 with or without anosmia A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the TAC3 gene on chromosome 12q13. url:https://www.ncbi.nlm.nih.gov/pubmed/19079066 A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the DUSP6 gene on chromosome 12q22, sometimes in association with mutations in other genes. ICD10CM:E23.0 OMIM:615269 doid DOID:0090090 hypogonadotropic hypogonadism 19 with or without anosmia A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the DUSP6 gene on chromosome 12q22, sometimes in association with mutations in other genes. url:https://www.ncbi.nlm.nih.gov/pubmed/23643382 A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the LHB gene on chromosome 19q13. ICD10CM:Q56.1 OMIM:228300 ORDO:325448 46,XY DSD due to LHB deficiency 46,XY DSD due to luteinizing hormone subunit beta deficiency 46,XY disorder of sex development due to LHB deficiency 46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency Pasqualini syndrome fertile eunuch syndrome leydig cell hypoplasia due to LHB deficiency doid DOID:0090091 hypogonadotropic hypogonadism 23 with or without anosmia A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the LHB gene on chromosome 19q13. url:https://www.ncbi.nlm.nih.gov/pubmed/1727547 url:https://www.ncbi.nlm.nih.gov/pubmed/22723313 A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the PROKR2 gene on chromosome 20p12, sometimes in association with mutation in another gene. ICD10CM:E23.0 OMIM:244200 doid DOID:0090092 hypogonadotropic hypogonadism 3 with or without anosmia A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the PROKR2 gene on chromosome 20p12, sometimes in association with mutation in another gene. url:https://www.ncbi.nlm.nih.gov/pubmed/17054399 url:https://www.ncbi.nlm.nih.gov/pubmed/18559922 A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FLRT3 gene on 20p11, sometimes in association with mutations in other genes. ICD10CM:E23.0 OMIM:615271 doid DOID:0090093 hypogonadotropic hypogonadism 21 with or without anosmia A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FLRT3 gene on 20p11, sometimes in association with mutations in other genes. url:https://www.ncbi.nlm.nih.gov/pubmed/23643382 A hypogonadotropic hypogonadism that has_material_basis_in mutation in the KAL1 gene on chromosome Xp22.3, sometimes in association with mutation in another gene. ICD10CM:E23.0 OMIM:308700 dysplasia olfactogenitalis of de morsier doid DOID:0090094 hypogonadotropic hypogonadism 1 with or without anosmia A hypogonadotropic hypogonadism that has_material_basis_in mutation in the KAL1 gene on chromosome Xp22.3, sometimes in association with mutation in another gene. url:https://www.ncbi.nlm.nih.gov/pubmed/1594017 url:https://www.ncbi.nlm.nih.gov/pubmed/16882753 url:https://www.ncbi.nlm.nih.gov/pubmed/17054399 A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the DNAJC19 gene on chromosome 3q26. ICD10CM:E71.1 OMIM:610198 ORDO:66634 3-methylglutaconic aciduria type V DCMA DCMA syndrome MGA5 MGCA5 dilated cardiomyopathy with ataxia DOID:0110000 3-methylglutaconic aciduria type 5 A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the DNAJC19 gene on chromosome 3q26. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=16055927 A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the SERAC1 gene on chromosome 6q25. ICD10CM:E71.1 OMIM:614739 ORDO:352328 3-methylglutaconic aciduria type 6 MEGDEL MEGDEL syndrome MGCA6 DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the SERAC1 gene on chromosome 6q25. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=22683713 A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the AUH gene on chromosome 9q22. ICD10CM:E71.1 OMIM:250950 ORDO:67046 3-methylglutaconic aciduria type I 3-methylglutaconyl-CoA hydratase deficiency 3MG-CoA hydratase deficiency MGA type I MGA1 DOID:0110002 3-methylglutaconic aciduria type 1 A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the AUH gene on chromosome 9q22. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=12434311 A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the CLPB gene on chromosome 11q13. OMIM:616271 ORDO:445038 MEGCANN 3-methylglutaconic aciduria type 7 3-methylglutaconic aciduria type VII MGA7 MGCA7 DOID:0110003 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the CLPB gene on chromosome 11q13. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=25597510 A 3-methylglutaconic aciduria that has_material_basis_in mutation in the OPA3 gene. ICD10CM:E71.1 OMIM:258501 ORDO:67047 3-methylglutaconic aciduria type III Costeff optic atrophy syndrome Costeff syndrome Iraqi-Jewish optic atrophy plus MGA3 autosomal recessive optic atrophy plus syndrome autosomal recessive optic atrophy type 3 infantile optic atrophy with chorea and spastic paraplegia DOID:0110004 3-methylglutaconic aciduria type 3 A 3-methylglutaconic aciduria that has_material_basis_in mutation in the OPA3 gene. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=11668429 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=12126933 A Leber congenital amaurosis that has_material_basis_in mutation in the NMNAT1 gene on chromosome 1p36. ICD10CM:H35.5 OMIM:608553 LCA9 DOID:0110005 Leber congenital amaurosis 9 A Leber congenital amaurosis that has_material_basis_in mutation in the NMNAT1 gene on chromosome 1p36. https://www.ncbi.nlm.nih.gov/pubmed/22842230 A 3-methylglutaconic aciduria that is characterized by mild or intermittent urinary excretion of 3-methylglutaconic acid. OMIM:250951 ORDO:67048 3-methylglutaconic aciduria type IV MGA type IV MGA4 MGCA4 DOID:0110006 3-methylglutaconic aciduria type 4 A 3-methylglutaconic aciduria that is characterized by mild or intermittent urinary excretion of 3-methylglutaconic acid. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=21646875 An achromatopsia that has material basis in homozygous or compound heterozygous mutation in the CNGA3 gene on chromosome 2q11. OMIM:216900 ACHM2 RMCH2 rod monochromacy 2 rod monochromatism 2 DOID:0110007 achromatopsia 2 An achromatopsia that has material basis in homozygous or compound heterozygous mutation in the CNGA3 gene on chromosome 2q11. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=11536077 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=9662398 An achromatopsia that has material basis in homozygous or compound heterozygous mutation in the CNGB3 gene on chromosome 8q2. OMIM:262300 ACHM1 ACHM3 Pingelapese blindness RMCH1 rod monochromacy 1 rod monochromatism 1 DOID:0110008 achromatopsia 3 An achromatopsia that has material basis in homozygous or compound heterozygous mutation in the CNGB3 gene on chromosome 8q2. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=10888875 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=17265047 An achromatopsia that has material basis in homozygous or compound heterozygous mutation in the ATF6 gene on chromosome 1q23. OMIM:616517 ACHM7 DOID:0110009 achromatopsia 7 An achromatopsia that has material basis in homozygous or compound heterozygous mutation in the ATF6 gene on chromosome 1q23. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=26029869 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=26063662 OMIM:613856 ACHM4 An achromatopsia that has material basis in homozygous or compound heterozygous mutation in the GNAT2 gene (139340) on chromosome 1p13. DOID:0110010 achromatopsia 4 An achromatopsia that has material basis in homozygous or compound heterozygous mutation in the GNAT2 gene (139340) on chromosome 1p13. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=12205108 An advanced sleep phase syndrome that has material basis in heterozygous mutation in the PER2 gene on chromosome 2q37. OMIM:604348 FASPS1 familial advanced sleep phase syndrome 1 DOID:0110011 advanced sleep phase syndrome 1 An advanced sleep phase syndrome that has material basis in heterozygous mutation in the PER2 gene on chromosome 2q37. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=11232563 An advanced sleep phase syndrome that has material basis in heterozygous mutation in the CSNK1D gene on chromosome 17q25. OMIM:615224 FASPS2 familial advanced sleep phase syndrome 2 DOID:0110012 advanced sleep phase syndrome 2 An advanced sleep phase syndrome that has material basis in heterozygous mutation in the CSNK1D gene on chromosome 17q25. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=15800623 An advanced sleep phase syndrome that has material basis in heterozygous mutation in the PER3 gene on chromosome 1p36.23. OMIM:616882 FASPS3 familial advanced sleep phase syndrome 3 DOID:0110013 advanced sleep phase syndrome 3 An advanced sleep phase syndrome that has material basis in heterozygous mutation in the PER3 gene on chromosome 1p36.23. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=26903630 An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1. OMIM:603075 ARMD1 age related maculopathy 1 DOID:0110014 age related macular degeneration 1 An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=14570714 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=9715689 An age related macular degeneration conferred by variation in the ABCA4 gene on chromosome 1p22. OMIM:153800 ARMD2 DOID:0110015 age related macular degeneration 2 An age related macular degeneration conferred by variation in the ABCA4 gene on chromosome 1p22. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=10396622 A Leber congenital amaurosis that is characterized by night blindness, some transient improvement in vision, and eventual progressive visual loss and has_material_basis_in mutation in the RPE65 gene on chromosome 1. ICD10CM:H35.5 OMIM:204100 LCA2 amaurosis congenita of Leber II DOID:0110016 Leber congenital amaurosis 2 A Leber congenital amaurosis that is characterized by night blindness, some transient improvement in vision, and eventual progressive visual loss and has_material_basis_in mutation in the RPE65 gene on chromosome 1. https://www.ncbi.nlm.nih.gov/pubmed/9326927 An age related macular degeneration conferred by variation in the CFH gene on chromosome 1q31. OMIM:610698 ARMD4 DOID:0110017 age related macular degeneration 4 An age related macular degeneration conferred by variation in the CFH gene on chromosome 1q31. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=15761120 An age related macular degeneration conferred by heterozygous mutation in the RAXL1 gene on chromosome 19p13. OMIM:613757 ARMD6 DOID:0110018 age related macular degeneration 6 An age related macular degeneration conferred by heterozygous mutation in the RAXL1 gene on chromosome 19p13. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=15028672 An age related macular degeneration conferred by variation in the HTRA1 gene on chromosome 10q26. OMIM:610149 ARMD7 DOID:0110019 age related macular degeneration 7 An age related macular degeneration conferred by variation in the HTRA1 gene on chromosome 10q26. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=17053108 An age related macular degeneration that has material basis in mutation in the ARMS2 gene, originally designated LOC387715, on chromosome 10q26 OMIM:613778 ARMD8 DOID:0110020 age related macular degeneration 8 An age related macular degeneration that has material basis in mutation in the ARMS2 gene, originally designated LOC387715, on chromosome 10q26 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=17210852 An age related macular degeneration conferred by variation in the C3 gene on chromosome 19p13. OMIM:611378 ARMD9 DOID:0110021 age related macular degeneration 9 An age related macular degeneration conferred by variation in the C3 gene on chromosome 19p13. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=24036952 An age related macular degeneration associated with variation in the genomic region 9:112,100,000-127,500,000 (GRCh38). TLR4 has been put forth as a candidate gene. OMIM:611488 ARMD10 DOID:0110022 age related macular degeneration 10 An age related macular degeneration associated with variation in the genomic region 9:112,100,000-127,500,000 (GRCh38). TLR4 has been put forth as a candidate gene. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=14691731 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=15829498 An age related macular degeneration conferred by variation in the CST3 gene on chromosome 20p11. OMIM:611953 ARMD11 DOID:0110023 age related macular degeneration 11 An age related macular degeneration conferred by variation in the CST3 gene on chromosome 20p11. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=11815350 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=25893795 An age related macular degeneration conferred by mutation in the CX3CR1 gene on chromosome 3p22. OMIM:613784 ARMD12 DOID:0110024 age related macular degeneration 12 An age related macular degeneration conferred by mutation in the CX3CR1 gene on chromosome 3p22. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=15208270 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=17909628 An age related macular degeneration conferred by heterozygous mutation in the CFI gene on chromosome 4q25. OMIM:615439 ARMD13 DOID:0110025 age related macular degeneration 13 An age related macular degeneration conferred by heterozygous mutation in the CFI gene on chromosome 4q25. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=23685748 An age related macular degeneration associated with variation at or near the C2 and CFB genes on chromosome 6p21. OMIM:615489 ARMD14 DOID:0110026 age related macular degeneration 14 An age related macular degeneration associated with variation at or near the C2 and CFB genes on chromosome 6p21. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=16518403 An age related macular degeneration conferred by variation in the C9 gene on chromosome 5p13. OMIM:615591 ARMD15 DOID:0110027 age related macular degeneration 15 An age related macular degeneration conferred by variation in the C9 gene on chromosome 5p13. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=24036952 An age related macular degeneration onferred by heterozygous mutation in the ERCC6 gene on chromosome 10q11. OMIM:613761 ARMD5 DOID:0110028 age related macular degeneration 5 An age related macular degeneration onferred by heterozygous mutation in the ERCC6 gene on chromosome 10q11. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=16754848 An alpha thalassemia that has material basis in a deletion in chromosome 16p that involves the alpha-1 (HBA1) and alpha-2 (HBA2) genes, among others. ICD10CM:D56.0 OMIM:141750 ORDO:98791 ATR syndrome linked to chromosome 16 ATR syndrome, deletion type ATR-16 syndrome alpha thalassemia-intellectual disability syndrome, deletion type alpha thalassemia-retardation syndrome alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 alpha-thalassemia/mental retardation syndrome, deletion-type alpha-thalassemia/mental retardation syndrome, type 1 DOID:0110029 alpha thalassemia-intellectual disability syndrome type 1 An alpha thalassemia that has material basis in a deletion in chromosome 16p that involves the alpha-1 (HBA1) and alpha-2 (HBA2) genes, among others. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=15921166 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=18076105 An alpha thalassemia that has material basis in mutation in the ATRX gene on Xq21. ICD10CM:D56.0 OMIM:301040 ORDO:847 ATR, nondeletion type ATR-X syndrome alpha-thalassemia/mental retardation syndrome nondeletion type DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome An alpha thalassemia that has material basis in mutation in the ATRX gene on Xq21. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=1415255 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=7697714 An alpha thalassemia that has material basis in contiguous gene deletion of the hemoglobin alpha-1 (HBA1) and alpha-2 (HBA2) genes on one chromosome 16, and a defect, deletional or nondeletional, in either HBA1 or HBA2 on the other. ICD10CM:D56.0 OMIM:613978 ORDO:93616 HBH alpha thalassemia, hemoglobin H type alpha-thalassemia intermedia hemoglobin H disease, deletional DOID:0110031 hemoglobin H disease An alpha thalassemia that has material basis in contiguous gene deletion of the hemoglobin alpha-1 (HBA1) and alpha-2 (HBA2) genes on one chromosome 16, and a defect, deletional or nondeletional, in either HBA1 or HBA2 on the other. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=12393486 An Alport syndrome that has_material -basis_in heterozygous mutation in the COL4A3 gene. OMIM:104200 ORDO:88918 DOID:0110032 autosomal dominant Alport syndrome An Alport syndrome that has_material -basis_in heterozygous mutation in the COL4A3 gene. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=11044206 An Alport syndrome that has_material -basis_in homozygous or compound heterozygous mutation in the COL4A3 or the COL4A4 gene, both of which map to chromosome 2q OMIM:203780 ORDO:88919 DOID:0110033 autosomal recessive Alport syndrome An Alport syndrome that has_material -basis_in homozygous or compound heterozygous mutation in the COL4A3 or the COL4A4 gene, both of which map to chromosome 2q url:http://www.ncbi.nlm.nih.gov/pubmed/?term=25575550 An Alport syndrome that has_material -basis_in mutation in the gene encoding the alpha-5 chain of basement membrane collagen type IV (COL4A5). OMIM:301050 ORDO:88917 ATS nephropathy and deafness, X-linked DOID:0110034 X-linked Alport syndrome An Alport syndrome that has_material -basis_in mutation in the gene encoding the alpha-5 chain of basement membrane collagen type IV (COL4A5). url:http://www.ncbi.nlm.nih.gov/pubmed/?term=2349482 An Alzheimer's disease that is characterized by an association of the apolipoprotein E E4 allele. ICD10CM:G30 OMIM:104310 AD2 Alzheimer disease 2, late onset Alzheimer disease associated with APOE4 Alzheimer disease-2 DOID:0110035 Alzheimer's disease 2 An Alzheimer's disease that is characterized by an association of the apolipoprotein E E4 allele. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=8346443 An Alzheimer's disease that is characterized by an associated with a risk allele in in the PCDH11X gene on chromosome Xq21.3. OMIM:300756 AD16 DOID:0110036 Alzheimer's disease 16 An Alzheimer's disease that is characterized by an associated with a risk allele in in the PCDH11X gene on chromosome Xq21.3. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=19136949 An Alzheimer's disease that is characterized by an associated with variation in the region 12p11.23-q13.12. ICD10CM:G30 AD5 Alzheimer disease 5 Alzheimer disease, familial 5 DOID:0110037 Alzheimer's disease 5 An Alzheimer's disease that is characterized by an associated with variation in the region 12p11.23-q13.12. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=9333264 An Alzheimer's disease that is characterized by an associated with variation in the region 10q24. ICD10CM:G30 OMIM:605526 AD6 Alzheimer disease 6 Alzheimer disease 6, late onset DOID:0110038 Alzheimer's disease 6 An Alzheimer's disease that is characterized by an associated with variation in the region 10q24. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=16385451 An Alzheimer's disease that is characterized by an associated with variation in the region 10p13. ICD10CM:G30 OMIM:606187 AD7 Alzheimer disease 7 Alzheimer disease, familial 7 DOID:0110039 Alzheimer's disease 7 An Alzheimer's disease that is characterized by an associated with variation in the region 10p13. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=11443525 An Alzheimer's disease that has_material_basis_in a mutation in the presenilin-2 gene (PSEN2) on chromosome 1q42. OMIM:606889 AD4 Alzheimer disease 4 Alzheimer disease, familial4 DOID:0110040 Alzheimer's disease 4 An Alzheimer's disease that has_material_basis_in a mutation in the presenilin-2 gene (PSEN2) on chromosome 1q42. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=12925374 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=7638622 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=7651536 An Alzheimer's disease that is characterized by an associated with variation in the region 20p12.2-q11.21. ICD10CM:G30 OMIM:607116 AD8 Alzheimer disease 8 Alzheimer disease, familial 8 DOID:0110041 Alzheimer's disease 8 An Alzheimer's disease that is characterized by an associated with variation in the region 20p12.2-q11.21. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=9008509 An Alzheimer's disease that has_material_basis_in mutation in the presenilin-1 gene (PSEN1) on chromosome 14q24. OMIM:607822 AD3 Alzheimer disease 3 Alzheimer disease 3, early onset Alzheimer disease familial 3 DOID:0110042 Alzheimer's disease 3 An Alzheimer's disease that has_material_basis_in mutation in the presenilin-1 gene (PSEN1) on chromosome 14q24. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=1303290 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=7596406 An Alzheimer's disease that is characterized by an associated with variation in the region 7q36. ICD10CM:G30 OMIM:609636 AD10 Alzheimer disease 10 Alzheimer disease familial 10 DOID:0110043 Alzheimer's disease 10 An Alzheimer's disease that is characterized by an associated with variation in the region 7q36. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=16175510 An Alzheimer's disease that is characterized by an associated with variation in the region 9p22.1. ICD10CM:G30 OMIM:609790 AD11 Alzheimer disease 11 DOID:0110044 Alzheimer's disease 11 An Alzheimer's disease that is characterized by an associated with variation in the region 9p22.1. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=18761660 An Alzheimer's disease that is characterized by an associated with variation in the region 8p12-q22. ICD10CM:G30 OMIM:611073 AD12 Alzheimer disease 12 Alzheimer disease familial 12 DOID:0110045 Alzheimer's disease 12 An Alzheimer's disease that is characterized by an associated with variation in the region 8p12-q22. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=16825432 An Alzheimer's disease that is characterized by an associated with variation in the region 1q21. ICD10CM:G30 OMIM:611152 AD13 Alzheimer disease 13 DOID:0110046 Alzheimer's disease 13 An Alzheimer's disease that is characterized by an associated with variation in the region 1q21. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=17564960 An Alzheimer's disease that is characterized by an associated with variation in the region 1q25. ICD10CM:G30 OMIM:611154 AD14 Alzheimer disease 14 DOID:0110047 Alzheimer's disease 14 An Alzheimer's disease that is characterized by an associated with variation in the region 1q25. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=17564960 An Alzheimer's disease that is characterized by an associated with variations in the region 3q22-q24. ICD10CM:G30 OMIM:611155 AD15 Alzheimer disease 15 DOID:0110048 Alzheimer's disease 15 An Alzheimer's disease that is characterized by an associated with variations in the region 3q22-q24. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=17564960 An Alzheimer's disease that is characterized by an associated with mutations in the gene TREM2. OMIM:615080 AD17 Alzheimer disease 17 Alzheimer disease 17, late onset DOID:0110049 Alzheimer's disease 17 An Alzheimer's disease that is characterized by an associated with mutations in the gene TREM2. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=23150934 An Alzheimer's disease that has_material_basis_in a mutation in the ADAM10 gene on chromosome 15q21. OMIM:615590 AD18 Alzheimer disease 18 DOID:0110050 Alzheimer's disease 18 An Alzheimer's disease that has_material_basis_in a mutation in the ADAM10 gene on chromosome 15q21. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=19608551 An Alzheimer's disease that is characterized by associated variants of the gene PLD3. OMIM:615711 AD19 Alzheimer disease 19 Alzheimer disease 19 late onset DOID:0110051 Alzheimer's disease 19 An Alzheimer's disease that is characterized by associated variants of the gene PLD3. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=24336208 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=25832408 An amelogenesis imperfecta that has material basis in heterozygous mutation in the enamelin gene (ENAM) on chromosome 4q13. ICD10CM:K00.5 OMIM:104500 AI1B AIH2 amelogenesis imperfecta type IB autosomal dominant hypoplastic local amelogenesis imperfecta hereditary localized enamel hypoplasia DOID:0110052 amelogenesis imperfecta type 1B An amelogenesis imperfecta that has material basis in heterozygous mutation in the enamelin gene (ENAM) on chromosome 4q13. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=11487571 An amelogenesis imperfecta which can have material basis in mutation in the DLX3 gene. ICD10CM:K00.5 OMIM:104510 AI4 AIHHT amelogenesis imperfecta hypomaturation-hypoplastic type with taurodontism DOID:0110053 amelogenesis imperfecta type 4 An amelogenesis imperfecta which can have material basis in mutation in the DLX3 gene. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=15666299 An amelogenesis imperfecta that has material basis in heterozygous mutation in the beta-3 laminin gene (LAMB3) on chromosome 1q32. ICD10CM:K00.5 OMIM:104530 AI1A amelogenesis imperfecta hypoplastic type IA amelogenesis imperfecta type IA DOID:0110054 amelogenesis imperfecta type 1A An amelogenesis imperfecta that has material basis in heterozygous mutation in the beta-3 laminin gene (LAMB3) on chromosome 1q32. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=23632796 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=23958762 An amelogenesis imperfecta that has material basis in heterozygous mutation in the FAM83H gene. ICD10CM:K00.5 OMIM:130900 ADHCAI AI3 amelogenesis imperfecta hypomineralization type amelogenesis imperfecta type III autosomal dominant amelogenesis imperfecta hypocalcification type DOID:0110055 amelogenesis imperfecta type 3 An amelogenesis imperfecta that has material basis in heterozygous mutation in the FAM83H gene. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=18252228 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=18484629 An amelogenesis imperfecta that has material basis in homozygous mutation in the enamelin gene (ENAM). ICD10CM:K00.5 AI1C amelogenesis imperfecta type IC autosomal recessive amelogenesis imperfecta hypoplastic with or without openbite malocclusion autosomal recessive amelogenesis imperfecta local hypoplastic type DOID:0110056 amelogenesis imperfecta type 1C An amelogenesis imperfecta that has material basis in homozygous mutation in the enamelin gene (ENAM). url:http://www.ncbi.nlm.nih.gov/pubmed/?term=14684688 An amelogenesis imperfecta that has material basis in homozygous mutation in the kallikrein-4 gene (KLK4) on chromosome 19q13. ICD10CM:K00.5 OMIM:204700 AI2A1 amelogenesis imperfecta pigmented hypomaturation type 1 amelogenesis imperfecta type IIA1 DOID:0110057 amelogenesis imperfecta type 2A1 An amelogenesis imperfecta that has material basis in homozygous mutation in the kallikrein-4 gene (KLK4) on chromosome 19q13. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=15235027 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=23355523 An amelogenesis imperfecta that has material basis in mutation in the gene encoding amelogenin (AMELX). ICD10CM:K00.5 OMIM:301200 AIH1 X-linked amelogenesis imperfecta 1 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 1 amelogenesis imperfecta hypomaturationtype with snow-capped teeth amelogenesis imperfecta type IE X-linked enamel hypoplasia DOID:0110058 amelogenesis imperfecta type 1E An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region. ICD10CM:K00.5 OMIM:301201 AIH3 amelogenesis imperfecta type IE X-linked 2 amelogenesis imperfecta 3 hypoplastic type X-linked enamel hypoplasia DOID:0110059 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=1358807 An amelogenesis imperfecta that has material basis in homozygous mutation in the matrix metalloproteinase-20 gene (MMP20). ICD10CM:K00.5 OMIM:612529 AI2A2 amelogenesis imperfecta hypomaturation type IIA2 amelogenesis imperfecta pigmented hypomaturation type 2 amelogenesis imperfecta type IIA2 DOID:0110060 amelogenesis imperfecta hypomaturation type 2A2 An amelogenesis imperfecta that has material basis in homozygous mutation in the matrix metalloproteinase-20 gene (MMP20). url:http://www.ncbi.nlm.nih.gov/pubmed/?term=15744043 An amelogenesis imperfecta caused by homozygous mutation in the WDR72 gene. ICD10CM:K00.5 OMIM:613211 AI2A3 amelogenesis imperfecta hypomaturation type IIA3 amelogenesis imperfecta type IIA3 DOID:0110061 amelogenesis imperfecta hypomaturation type 2A3 An amelogenesis imperfecta caused by homozygous mutation in the WDR72 gene. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=19853237 An amelogenesis imperfecta caused by homozygous mutation in the C4ORF26 gene on chromosome 4q21. ICD10CM:K00.5 OMIM:614832 AI2A4 amelogenesis imperfecta hypomaturation type IIA4 amelogenesis imperfecta type IIA4 DOID:0110062 amelogenesis imperfecta hypomaturation type 2A4 An amelogenesis imperfecta caused by homozygous mutation in the C4ORF26 gene on chromosome 4q21. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=22901946 An amelogenesis imperfecta that has material basis in homozygous mutation in the SLC24A4 gene on chromosome 14q32. ICD10CM:K00.5 OMIM:615887 AI2A5 amelogenesis imperfecta hypomaturation type IIA5 amelogenesis imperfecta type IIA5 DOID:0110063 amelogenesis imperfecta hypomaturation type 2A5 An amelogenesis imperfecta that has material basis in homozygous mutation in the SLC24A4 gene on chromosome 14q32. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=23375655 An amelogenesis imperfecta that has material basis in homozygous or compound heterozygous mutation in the integrin beta-6 gene (ITGB6) on chromosome 2q24. ICD10CM:K00.5 OMIM:616221 AI1H amelogenesis imperfecta type IH DOID:0110064 amelogenesis imperfecta type 1H An amelogenesis imperfecta that has material basis in homozygous or compound heterozygous mutation in the integrin beta-6 gene (ITGB6) on chromosome 2q24. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=24305999 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=24319098 An amelogenesis imperfecta that has material basis in homozygous mutation in the ameloblastin gene (AMBN) on chromosome 4q13. ICD10CM:K00.5 OMIM:616270 AI1F amelogenesis imperfecta hypoplastic type IF amelogenesis imperfecta type IF DOID:0110065 amelogenesis imperfecta type 1F An amelogenesis imperfecta that has material basis in homozygous mutation in the ameloblastin gene (AMBN) on chromosome 4q13. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=24858907 An amelogenesis imperfecta that has material basis in homozygous or compound heterozygous mutation in the FAM20A gene on chromosome 17q24. ICD10CM:K00.5 OMIM:204690 ORDO:1031 AI1G AIGFS ERS amelogenesis imperfecta and gingival fibromatosis syndrome amelogenesis imperfecta hypoplastic with nephrocalcinosis amelogenesis imperfecta type IG enamel-renal syndrome enamel-renal-gingival syndrome DOID:0110066 amelogenesis imperfecta type 1G An amelogenesis imperfecta that has material basis in homozygous or compound heterozygous mutation in the FAM20A gene on chromosome 17q24. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=23468644 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=24196488 A juvenile amyotrophic lateral sclerosis that is slowly progressive with concomitantly progressive dementia. OMIM:205200 ALS-dementia complex DOID:0110067 juvenile amyotrophic lateral sclerosis with dementia A juvenile amyotrophic lateral sclerosis that is slowly progressive with concomitantly progressive dementia. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=5692341 An amyotrophic lateral sclerosis that has material basis in mutation in the SQSTM1 gene on chromosome 5q35. OMIM:616437 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 DOID:0110068 FTDALS3 An amyotrophic lateral sclerosis that has material basis in mutation in the SQSTM1 gene on chromosome 5q35. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=22084127 An amyotrophic lateral sclerosis that has material basis in mutation in the TBK1 gene on chromosome 12q14. OMIM:616439 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 DOID:0110069 FTDALS4 An amyotrophic lateral sclerosis that has material basis in mutation in the TBK1 gene on chromosome 12q14. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=25700176 An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutation in the TGFB3 gene on chromosome 14q24. ICD10CM:I42.8 ICD10CM:Q24.8 OMIM:107970 ARVC1 ARVD1 arrhythmogenic right ventricular cardiomyopathy 1 familial arrhythmogenic right ventricular dysplasia 1 DOID:0110070 arrhythmogenic right ventricular dysplasia 1 An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutation in the TGFB3 gene on chromosome 14q24. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=15639475 An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutation in the cardiac ryanodine receptor-2 gene (RYR2) on chromosome 1q43. ICD10CM:I42.8 OMIM:600996 ARVC2 ARVD2 arrhythmogenic right ventricular cardiomyopathy 2 familial arrhythmogenic right ventricular dysplasia 2 DOID:0110071 arrhythmogenic right ventricular dysplasia 2 An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutation in the cardiac ryanodine receptor-2 gene (RYR2) on chromosome 1q43. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=11159936 An arrhythmogenic right ventricular dysplasia associated with variation in the region 14q12-q22. ICD10CM:I42.8 OMIM:602086 ARVC3 ARVD3 arrhythmogenic right ventricular cardiomyopathy 3 familial arrhythmogenic right ventricular dysplasia 3 DOID:0110072 arrhythmogenic right ventricular dysplasia 3 An arrhythmogenic right ventricular dysplasia associated with variation in the region 14q12-q22. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=8824801 An arrhythmogenic right ventricular dysplasia associated with variation in the region 2q32.1-q32.3. ICD10CM:I42.8 OMIM:602087 ARVC4 ARVD4 arrhythmogenic right ventricular cardiomyopathy 4 fanilial arrhythmogenic right ventricular dysplasia 4 DOID:0110073 arrhythmogenic right ventricular dysplasia 4 An arrhythmogenic right ventricular dysplasia associated with variation in the region 2q32.1-q32.3. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=9344647 An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutation in the TMEM43 gene on chromosome 3p25. ICD10CM:I42.8 OMIM:604400 ARVC5 ARVD5 arrhythmogenic right ventricular cardiomyopathy 5 familial arrhythmogenic right ventricular dysplasia 5 DOID:0110074 arrhythmogenic right ventricular dysplasia 5 An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutation in the TMEM43 gene on chromosome 3p25. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=18313022 An arrhythmogenic right ventricular dysplasia associated with variation in the region 10p14-p12. ICD10CM:I42.8 OMIM:604401 ARVC6 ARVD6 arrhythmogenic right ventricular cardiomyopathy 6 familial arrhythmogenic right ventricular dysplasia 6 DOID:0110075 arrhythmogenic right ventricular dysplasia 6 An arrhythmogenic right ventricular dysplasia associated with variation in the region 10p14-p12. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=10631146 An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutation in the gene encoding desmoplakin (DSP) on chromosome 6p24. ICD10CM:I42.8 OMIM:607450 ARVC8 ARVD8 arrhythmogenic right ventricular cardiomyopathy 8 familial arrhythmogenic right ventricular dysplasia 8 DOID:0110076 arrhythmogenic right ventricular dysplasia 8 An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutation in the gene encoding desmoplakin (DSP) on chromosome 6p24. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=12373648 An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutations in the PKP2 gene on chromosome 12p11. ICD10CM:I42.8 OMIM:609040 ARVC9 ARVD9 arrhythmogenic right ventricular cardiomyopathy 9 familial arrhythmogenic right ventricular dysplasia 9 DOID:0110077 arrhythmogenic right ventricular dysplasia 9 An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutations in the PKP2 gene on chromosome 12p11. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=15489853 A Leber congenital amaurosis characterized by severe cone-rod dystrophy with photophobia, high hyperopia, and poor but stable vision with no visual improvement and that has_material_basis_in mutation in the GUCY2D gene on chromosome 17p13. ICD10CM:H35.5 OMIM:204000 LCA1 amaurosis congenita of Leber I DOID:0110078 Leber congenital amaurosis 1 A Leber congenital amaurosis characterized by severe cone-rod dystrophy with photophobia, high hyperopia, and poor but stable vision with no visual improvement and that has_material_basis_in mutation in the GUCY2D gene on chromosome 17p13. https://www.ncbi.nlm.nih.gov/pubmed/8944027 A Leber congenital amaurosis that is characterized by night blindness and thick unlaminated retinas and has_material_basis_in mutation in the CRB1 gene on chromosome 1q31-q32. ICD10CM:H35.5 OMIM:613835 LCA8 DOID:0110079 Leber congenital amaurosis 8 A Leber congenital amaurosis that is characterized by night blindness and thick unlaminated retinas and has_material_basis_in mutation in the CRB1 gene on chromosome 1q31-q32. https://www.ncbi.nlm.nih.gov/pubmed/11231775 A Leber congenital amaurosis that has_material_basis_in mutation in the RD3 gene on chromosome 1q32. ICD10CM:H35.5 OMIM:610612 LCA12 DOID:0110080 Leber congenital amaurosis 12 A Leber congenital amaurosis that has_material_basis_in mutation in the RD3 gene on chromosome 1q32. https://www.ncbi.nlm.nih.gov/pubmed/17186464 An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutation in the desmoglein-2 gene (DSG2) on chromosome 18q12. ICD10CM:I42.8 OMIM:610193 ARVC10 ARVD10 arrhythmogenic right ventricular cardiomyopathy 10 familial arrhythmogenic right ventricular dysplasia 10 DOID:0110081 arrhythmogenic right ventricular dysplasia 10 An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutation in the desmoglein-2 gene (DSG2) on chromosome 18q12. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=16505173 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=17105751 An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutation in the desmocollin-2 gene (DSC2) on chromosome 18q. ICD10CM:I42.8 OMIM:610476 ARVC11 ARVD11 arrhythmogenic right ventricular cardiomyopathy 11 familial arrhythmogenic right ventricular dysplasia 11 DOID:0110082 arrhythmogenic right ventricular dysplasia 11 An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutation in the desmocollin-2 gene (DSC2) on chromosome 18q. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=17033975 ICD10CM:I42.8 OMIM:611528 ARVC12 ARVD12 arrhythmogenic right ventricular cardiomyopathy 12 familial arrhythmogenic right ventricular dysplasia 12 DOID:0110083 arrhythmogenic right ventricular dysplasia 12 An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutation in the CTNNA3 gene on chromosome 10q21. ICD10CM:I42.8 ARVC13 ARVD13 arrhythmogenic right ventricular cardiomyopathy 13 familial arrhythmogenic right ventricular dysplasia 13 DOID:0110084 arrhythmogenic right ventricular dysplasia 13 An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutation in the CTNNA3 gene on chromosome 10q21. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=23136403 An asphyxiating thoracic dystrophy associated with variation in the region 15q13. ICD10CM:Q77.2 OMIM:208500 ATD1 SRTD1 short-rib thoracic dysplasia 1 with or without polydactyly DOID:0110085 asphyxiating thoracic dystrophy 1 An asphyxiating thoracic dystrophy associated with variation in the region 15q13. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=20503315 An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the IFT80 gene on chromosome 3q25. ICD10CM:Q77.2 OMIM:611263 ATD2 SRTD2 short-rib thoracic dysplasia 2 with or without polydactyly DOID:0110086 asphyxiating thoracic dystrophy 2 An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the IFT80 gene on chromosome 3q25. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=17468754 An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22. ICD10CM:Q77.2 OMIM:613091 short rib-polydactyly syndrome, type I ATD3 SRPS1 SRPS2B SRPS3 SRTD3 Saldino-Noonan syndrome Verma-Naumoff syndrome polydactyly with neonatal chondrodystrophy, type I polydactyly with neonatal chondrodystrophy, type III short rib-polydactyly syndrome, type IIB short-rib thoracic dysplasia 3 with or without polydactyly DOID:0110087 asphyxiating thoracic dystrophy 3 An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=19442771 An asphyxiating thoracic dystrophy has material basis in compound heterozygous mutation in the TTC21B gene on chromosome 2q24. ICD10CM:Q77.2 OMIM:613819 ATD4 SRTD4 short-rib thoracic dysplasia 4 with or without polydactyly DOID:0110088 asphyxiating thoracic dystrophy 4 An asphyxiating thoracic dystrophy has material basis in compound heterozygous mutation in the TTC21B gene on chromosome 2q24. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=21258341 An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the WDR19 gene on chromosome 4p14. ICD10CM:Q77.2 OMIM:614376 ATD5 SRTD5 short-rib thoracic dysplasia 5 with or without polydactyly DOID:0110089 asphyxiating thoracic dystrophy 5 An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the WDR19 gene on chromosome 4p14. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=22019273 A short-rib thoracic dysplasia that has material basis in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1. ICD10CM:Q77.2 OMIM:614091 SRPS5 SRTD7 short rib-polydactyly syndrom type V DOID:0110090 short-rib thoracic dysplasia 7 with or without polydactyly A short-rib thoracic dysplasia that has material basis in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=17935248 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=21473986 A short-rib thoracic dysplasia that has material basis in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23. ICD10CM:Q77.2 ICD10CM:Q87.5 OMIM:615630 SRTD10 DOID:0110091 short-rib thoracic dysplasia 10 with or without polydactyly A short-rib thoracic dysplasia that has material basis in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=24140113 A short-rib thoracic dysplasia that has material basis in homozygous mutation in the NEK1 gene on chromosome 4q33. ICD10CM:Q77.2 OMIM:263520 Majewski syndrome SRPS2A SRTD6 polydactyly with neonatal chondrodystrophy, type II short rib-polydactyly syndrome type IIA DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly A short-rib thoracic dysplasia that has material basis in homozygous mutation in the NEK1 gene on chromosome 4q33. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=21211617 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=22499340 A short-rib thoracic dysplasia that has material basis in homozygous mutation in the CEP120 gene on chromosome 5q23. ICD10CM:Q77.2 OMIM:616300 SRTD13 DOID:0110093 short-rib thoracic dysplasia 13 with or without polydactyly A short-rib thoracic dysplasia that has material basis in homozygous mutation in the CEP120 gene on chromosome 5q23. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=25361962 A short-rib thoracic dysplasia that has material basis in compound heterozygous mutation in the WDR60 gene on chromosome 7q36. ICD10CM:Q77.2 OMIM:615503 SRPS6 SRTD8 short rib-polydactyly syndrome type VI DOID:0110094 short-rib thoracic dysplasia 8 with or without polydactyly A short-rib thoracic dysplasia that has material basis in compound heterozygous mutation in the WDR60 gene on chromosome 7q36. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=23910462 A short-rib thoracic dysplasia that has material basis in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34. ICD10CM:Q77.2 OMIM:615633 SRTD11 DOID:0110095 short-rib thoracic dysplasia 11 with or without polydactyly A short-rib thoracic dysplasia that has material basis in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=24183449 A short-rib thoracic dysplasia that has material basis in homozygous mutation in the KIAA0586 gene on chromosome 14q23. ICD10CM:Q04.3 OMIM:616546 SRTD14 DOID:0110096 short-rib thoracic dysplasia 14 with polydactyly A short-rib thoracic dysplasia that has material basis in homozygous mutation in the KIAA0586 gene on chromosome 14q23. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=26166481 A short-rib thoracic dysplasia that has material basis in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13. ICD10CM:Q87.5 OMIM:266920 SRTD9 renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly A short-rib thoracic dysplasia that has material basis in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=22503633 An atopic dermatitis conferred by variation in the FLG gene on chromosome 1q21. OMIM:605803 ATOD2 DOID:0110098 atopic dermatitis 2 An atopic dermatitis conferred by variation in the FLG gene on chromosome 1q21. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=16912508 An atopic dermatitis associated with variation in the region 20p. OMIM:605804 ATOD3 atopic dermatitis with asthma DOID:0110099 atopic dermatitis 3 An atopic dermatitis associated with variation in the region 20p. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=11279517 An atopic dermatitis associated with variation in the region 17q25.3. OMIM:605805 ATOD4 DOID:0110100 atopic dermatitis 4 An atopic dermatitis associated with variation in the region 17q25.3. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=11279517 An atopic dermatitis associated with variation in the region 13q12-q14. OMIM:605844 ATOD5 DOID:0110101 atopic dermatitis 5 An atopic dermatitis associated with variation in the region 13q12-q14. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=11069631 An atopic dermatitis associated with variation in the region 5q31-q33. OMIM:605845 ATOD6 DOID:0110102 atopic dermatitis 6 An atopic dermatitis associated with variation in the region 5q31-q33. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=11069631 An atopic dermatitis associated with variation in the region 11q13.5. OMIM:613064 ATOD7 DOID:0110103 atopic dermatitis 7 An atopic dermatitis associated with variation in the region 11q13.5. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=19349984 An atopic dermatitis associated with variation in the region 4q22.1. OMIM:613518 ATOD8 DOID:0110104 atopic dermatitis 8 An atopic dermatitis associated with variation in the region 4q22.1. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=19517137 An atopic dermatitis associated with variation in the region 3p24. OMIM:613519 ATOD9 DOID:0110105 atopic dermatitis 9 An atopic dermatitis associated with variation in the region 3p24. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=19517137 An atrial heart septal defect type 1 associated with variation in the region 5p. ICD10CM:Q21.1 OMIM:108800 ASD1 atrial septal defect 1 DOID:0110106 atrial heart septal defect 1 An atrial heart septal defect type 1 associated with variation in the region 5p. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=9610535 An atrial heart septal defect type 2 that has material basis in heterozygous mutation in the GATA4 gene on chromosome 8p23. ICD10CM:Q21.1 OMIM:607941 ASD2 atrial septal defect 2 DOID:0110107 atrial heart septal defect 2 An atrial heart septal defect type 2 that has material basis in heterozygous mutation in the GATA4 gene on chromosome 8p23. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=12845333 An atrial heart septal defect type 3 that has material basis in heterozygous mutation in the myosin heavy chain-6 gene (MYH6) on chromosome 14q12. ICD10CM:Q21.1 OMIM:614089 ASD3 atrial septal defect 3 DOID:0110108 atrial heart septal defect 3 An atrial heart septal defect type 3 that has material basis in heterozygous mutation in the myosin heavy chain-6 gene (MYH6) on chromosome 14q12. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=15735645 An atrial heart septal defect type 4 that has material basis in mutation in the TBX20 gene. ICD10CM:Q21.1 OMIM:611363 ASD4 atrial septal defect 4 DOID:0110109 atrial heart septal defect 4 An atrial heart septal defect type 4 that has material basis in mutation in the TBX20 gene. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=17668378 An atrial heart septal defect type 5 that has material basis in heterozygous mutation in the ACTC1 gene on chromosome 15q14. ICD10CM:Q21.1 OMIM:612794 ASD5 atrial septal defect 5 DOID:0110110 atrial heart septal defect 5 An atrial heart septal defect type 5 that has material basis in heterozygous mutation in the ACTC1 gene on chromosome 15q14. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=17947298 An atrial heart septal defect type 6 that has material basis in heterozygous mutation in the TLL1 gene on chromosome 4q32. ICD10CM:Q21.1 OMIM:613087 ASD6 atrial septal defect 6 DOID:0110111 atrial heart septal defect 6 An atrial heart septal defect type 6 that has material basis in heterozygous mutation in the TLL1 gene on chromosome 4q32. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=18830233 An atrial heart septal defect that has material basis in heterozygous mutation in the NKX2-5 gene on chromosome 5q35. ICD10CM:Q21.1 OMIM:108900 ORDO:1479 ASD with or without atrioventricular conduction defects atrial septal defect 7, with or without AV conduction defects atrial septal defect-atrioventricular conduction defects syndrome DOID:0110112 atrial heart septal defect 7 An atrial heart septal defect that has material basis in heterozygous mutation in the NKX2-5 gene on chromosome 5q35. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=9651244 An atrial heart septal defect that has material basis in heterozygous mutation in the CITED2 gene on chromosome 6q23.3. ICD10CM:Q21.1 OMIM:614433 ASD8 atrial septal defect 8 DOID:0110113 atrial heart septal defect 8 An atrial heart septal defect that has material basis in heterozygous mutation in the CITED2 gene on chromosome 6q23.3. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=16287139 An atrial heart septal defect that has material basis in heterozygous mutation in the GATA6 gene on chromosome 18q11. ICD10CM:Q21.1 OMIM:614475 ASD9 atrial septal defect 9 DOID:0110114 atrial heart septal defect 9 An atrial heart septal defect that has material basis in heterozygous mutation in the GATA6 gene on chromosome 18q11. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=20631719 An autoimmune lymphoproliferative syndrome that has material basis in mutation in the CASP10 gene. ICD10CM:D47.9 OMIM:603909 ALPS2A autoimmune lymphoproliferative syndrome type IIA DOID:0110115 autoimmune lymphoproliferative syndrome type 2A An autoimmune lymphoproliferative syndrome that has material basis in mutation in the CASP10 gene. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=16446975 An autoimmune lymphoproliferative syndrome that has material basis in homozygous mutation in the CASP8 gene on chromosome 2q33. ICD10CM:D47.9 OMIM:607271 ORDO:275517 ALPS with recurrent viral infections ALPS2B CEDS Caspase 8 deficiency Caspase 8 deficiency syndrome Caspase eight deficiency state autoimmune lymphoproliferative syndrome type IIB autoimmune lymphoproliferative syndrome with recurrent viral infections DOID:0110116 autoimmune lymphoproliferative syndrome type 2B An autoimmune lymphoproliferative syndrome that has material basis in homozygous mutation in the CASP8 gene on chromosome 2q33. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=12353035 ICD10CM:D72.8 OMIM:614470 ORDO:268114 ALPS type 4 ALPS type IV ALPS4 RALD RAS-associated autoimmune leukoproliferative disease RAS-associated autoimmune leukoproliferative disorder autoimmune lymphoproliferative syndrome type IV DOID:0110117 autoimmune lymphoproliferative syndrome type 4 A Leber congenital amaurosis that has_material_basis_in mutation in the KCNJ13 gene on chromosome 2q37. ICD10CM:H35.5 OMIM:614186 LCA16 DOID:0110118 Leber congenital amaurosis 16 A Leber congenital amaurosis that has_material_basis_in mutation in the KCNJ13 gene on chromosome 2q37. https://www.ncbi.nlm.nih.gov/pubmed/21763485 An autoimmune lymphoproliferative syndrome that has material basis in homozygous mutation in the PRKCD gene on chromosome 3p21. ICD10CM:D47.9 OMIM:615559 ALPS3 CVID9 autoimmune lymphoproliferative syndrome type III common variable immunodeficiency 9 DOID:0110119 autoimmune lymphoproliferative syndrome type 3 An autoimmune lymphoproliferative syndrome that has material basis in homozygous mutation in the PRKCD gene on chromosome 3p21. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=23319571 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=23666743 An Axenfeld-Rieger syndrome that has material basis in heterozygous mutation in the homeobox transcription factor gene PITX2 on chromosome 4q25. ICD10CM:Q13.8 OMIM:180500 RIEG1 Rieger syndrome type 1 DOID:0110120 Axenfeld-Rieger syndrome type 1 An Axenfeld-Rieger syndrome that has material basis in heterozygous mutation in the homeobox transcription factor gene PITX2 on chromosome 4q25. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=8944018 An Axenfeld-Rieger syndrome that has material basis in deletions in the region 13q14. ICD10CM:Q13.8 OMIM:601499 RIEG2 Rieger syndrome type 2 DOID:0110121 Axenfeld-Rieger syndrome type 2 An Axenfeld-Rieger syndrome that has material basis in deletions in the region 13q14. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=8751862 An Axenfeld-Rieger syndrome that has material basis in heterozygous mutation in the FOXC1 gene on chromosome 6p25. ICD10CM:Q13.8 OMIM:602482 Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss RIEG3 Rieger syndrome type 3 anterior chamber cleavage syndrome anterior segment mesenchymal dysgenesis DOID:0110122 Axenfeld-Rieger syndrome type 3 An Axenfeld-Rieger syndrome that has material basis in heterozygous mutation in the FOXC1 gene on chromosome 6p25. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=9792859 A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS1 gene on chromosome 11q13. ICD10CM:Q87.89 OMIM:209900 BBS1 DOID:0110123 Bardet-Biedl syndrome 1 A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS1 gene on chromosome 11q13. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=20177705 A Bardet-Biedl syndrome that has material basis in homozygous or compound heterozygous mutations in the BBS2 gene on chromosome 16q13. ICD10CM:Q87.89 OMIM:615981 BBS2 DOID:0110124 Bardet-Biedl syndrome 2 A Bardet-Biedl syndrome that has material basis in homozygous or compound heterozygous mutations in the BBS2 gene on chromosome 16q13. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=16823392 A Bardet-Biedl syndrome that has material basis in homozygous mutation in the ARL6 gene on chromosome 3q11. ICD10CM:Q87.89 OMIM:600151 BBS3 DOID:0110125 Bardet-Biedl syndrome 3 A Bardet-Biedl syndrome that has material basis in homozygous mutation in the ARL6 gene on chromosome 3q11. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=15314642 A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS4 gene on chromosome 15q24. ICD10CM:Q87.89 OMIM:615982 BBS4 DOID:0110126 Bardet-Biedl syndrome 4 A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS4 gene on chromosome 15q24. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=11381270 A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS5 gene on chromosome 2q31. ICD10CM:Q87.89 OMIM:615983 BBS5 DOID:0110127 Bardet-Biedl syndrome 5 A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS5 gene on chromosome 2q31. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=15137946 A Bardet-Biedl syndrome that has material basis in homozygous or compound heterozygous mutation in the MKKS gene on chromosome 20p12. ICD10CM:Q87.89 OMIM:605231 BBS6 DOID:0110128 Bardet-Biedl syndrome 6 A Bardet-Biedl syndrome that has material basis in homozygous or compound heterozygous mutation in the MKKS gene on chromosome 20p12. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=10973238 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=10973251 A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS7 gene on chromosome 4q27. ICD10CM:Q87.89 OMIM:615984 BBS7 DOID:0110129 Bardet-Biedl syndrome 7 A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS7 gene on chromosome 4q27. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=12567324 A Bardet-Biedl syndrome that has material basis in homozygous mutation in the TTC8 gene on chromosome 14q31. ICD10CM:Q87.89 OMIM:615985 BBS8 DOID:0110130 Bardet-Biedl syndrome 8 A Bardet-Biedl syndrome that has material basis in homozygous mutation in the TTC8 gene on chromosome 14q31. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=14520415 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=16308660 A Bardet-Biedl syndrome that has material basis in homozygosity or compound heterozygosity for mutations in the PTHB1 gene on chromosome 7p14. ICD10CM:Q87.89 OMIM:615986 BBS9 DOID:0110131 Bardet-Biedl syndrome 9 A Bardet-Biedl syndrome that has material basis in homozygosity or compound heterozygosity for mutations in the PTHB1 gene on chromosome 7p14. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=16380913 A Bardet-Biedl syndrome that has material basis in homozygous or compound heterozygous mutation in the BBS10 gene on chromosome 12q21. ICD10CM:Q87.89 OMIM:615987 BBS10 DOID:0110132 Bardet-Biedl syndrome 10 A Bardet-Biedl syndrome that has material basis in homozygous or compound heterozygous mutation in the BBS10 gene on chromosome 12q21. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=16582908 A Bardet-Biedl syndrome that has material basis in mutation in the TRIM32 gene on chromosome 9q33. ICD10CM:Q87.89 OMIM:615988 BBS11 DOID:0110133 Bardet-Biedl syndrome 11 A Bardet-Biedl syndrome that has material basis in mutation in the TRIM32 gene on chromosome 9q33. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=16606853 A Bardet-Biedl syndrome that has material basis in homozygous or compound heterozygous mutation in the BBS12 gene on chromosome 4q27. ICD10CM:Q87.89 OMIM:615989 BBS12 DOID:0110134 Bardet-Biedl syndrome 12 A Bardet-Biedl syndrome that has material basis in homozygous or compound heterozygous mutation in the BBS12 gene on chromosome 4q27. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=17160889 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=19797195 A Bardet-Biedl syndrome that has material basis in compound heterozygous mutation in the MKS1 gene on chromosome 17q22. ICD10CM:Q87.89 OMIM:615990 BBS13 DOID:0110135 Bardet-Biedl syndrome 13 A Bardet-Biedl syndrome that has material basis in compound heterozygous mutation in the MKS1 gene on chromosome 17q22. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=18327255 A Bardet-Biedl syndrome that has material basis in homozygous mutation in the CEP290 gene on chromosome 12q21. ICD10CM:Q87.89 OMIM:615991 BBS14 DOID:0110136 Bardet-Biedl syndrome 14 A Bardet-Biedl syndrome that has material basis in homozygous mutation in the CEP290 gene on chromosome 12q21. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=18327255 A Bardet-Biedl syndrome that has material basis in homozygous mutation in the WDPCP gene on chromosome 2p15. ICD10CM:Q87.89 OMIM:615992 BBS15 DOID:0110137 Bardet-Biedl syndrome 15 A Bardet-Biedl syndrome that has material basis in homozygous mutation in the WDPCP gene on chromosome 2p15. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=20671153 A Bardet-Biedl syndrome that has material basis in homozygous or compound heterozygous mutations in the SDCCAG8 gene on chromosome 1q43. ICD10CM:Q87.89 OMIM:615993 BBS16 DOID:0110138 Bardet-Biedl syndrome 16 A Bardet-Biedl syndrome that has material basis in homozygous or compound heterozygous mutations in the SDCCAG8 gene on chromosome 1q43. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=20835237 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=22626039 A Bardet-Biedl syndrome that has material basis in homozygous or compound heterozygous mutation in the LZTFL1 gene on chromosome 3p21. ICD10CM:Q87.89 OMIM:615994 BBS17 DOID:0110139 Bardet-Biedl syndrome 17 A Bardet-Biedl syndrome that has material basis in homozygous or compound heterozygous mutation in the LZTFL1 gene on chromosome 3p21. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=22510444 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=23692385 A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBIP1 gene on chromosome 10q25. ICD10CM:Q87.89 OMIM:615995 BBS18 DOID:0110140 Bardet-Biedl syndrome 18 A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBIP1 gene on chromosome 10q25. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=24026985 A Bardet-Biedl syndrome that has material basis in homozygous mutation in the IFT27 gene on chromosome 22q12. ICD10CM:Q87.89 OMIM:615996 BBS19 DOID:0110141 Bardet-Biedl syndrome 19 A Bardet-Biedl syndrome that has material basis in homozygous mutation in the IFT27 gene on chromosome 22q12. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=24488770 A Bartter disease that has material basis in homozygous or compound heterozygous mutation in the sodium-potassium-chloride cotransporter-2 gene (SLC12A1) on chromosome 15q21. ICD10CM:E26.8 OMIM:601678 BARTS1 Bartter syndrome type 1 Bartter syndrome type 1 antenatal hyperprostaglandin E syndrome 1 hypokalemic alkalosis with hypercalciuria 1 antenatal DOID:0110142 Bartter disease type 1 A Bartter disease that has material basis in homozygous or compound heterozygous mutation in the sodium-potassium-chloride cotransporter-2 gene (SLC12A1) on chromosome 15q21. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=9355073 A Bartter disease that has material basis in homozygous or compound heterozygous mutation in the potassium channel ROMK gene (KCNJ1) on chromosome 11q24. ICD10CM:E26.8 OMIM:241200 BARTS2 Bartter syndrome type 2 Bartter syndrome type 2 antenatal hyperprostaglandin E syndrome 2 hypokalemic alkalosis with hypercalciuria 2 antenatal DOID:0110143 Bartter disease type 2 A Bartter disease that has material basis in homozygous or compound heterozygous mutation in the potassium channel ROMK gene (KCNJ1) on chromosome 11q24. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=9326936 A Bartter disease that has material basis in homozygous or compound heterozygous mutation in the kidney chloride channel B gene (CLCNKB) on chromosome 1p36. ICD10CM:E26.8 OMIM:607364 BARTS3 Bartter syndrome type 3 classic Bartter syndrome DOID:0110144 Bartter disease type 3 A Bartter disease that has material basis in homozygous or compound heterozygous mutation in the kidney chloride channel B gene (CLCNKB) on chromosome 1p36. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=9326936 A Bartter disease that has material basis in homozygous or compound heterozygous mutation in the BSND gene on chromosome 1p32. ICD10CM:E26.8 OMIM:602522 BARTS4A BSND Bartter syndrome type 4a neonatal Bartter syndrome with sensorineural deafness DOID:0110145 Bartter disease type 4a A Bartter disease that has material basis in homozygous or compound heterozygous mutation in the BSND gene on chromosome 1p32. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=11687798 A Bartter disease that has material basis in simultaneous mutation in both the CLCNKA and CLCNKB genes. ICD10CM:E26.8 OMIM:613090 BARTS4B Bartter syndrome, type 4b, digenic neonatal Bartter syndrome type 4B with sensorineural deafness DOID:0110146 Bartter disease type 4b A Bartter disease that has material basis in simultaneous mutation in both the CLCNKA and CLCNKB genes. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=15044642 A Bartter disease that has material basis in mutation in the MAGED2 gene on chromosome Xp11. ICD10CM:E26.8 OMIM:300971 BARTS5 Bartter syndrome, type 5, antenatal, transient DOID:0110147 Bartter disease type 5 A Bartter disease that has material basis in mutation in the MAGED2 gene on chromosome Xp11. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=27120771 A Charcot-Marie-Tooth disease type 1 that has_material_basis_in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22). ICD10CM:G60.0 OMIM:118220 ORDO:101081 CMT1A Charcot-Marie-Tooth neuropathy type 1A HMSN1A autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A hereditary motor and sensory neuropathy 1A microduplication 17p12 DOID:0110148 Charcot-Marie-Tooth disease type 1A A Charcot-Marie-Tooth disease type 1 that has_material_basis_in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22). url:http://www.ncbi.nlm.nih.gov/pubmed/?term=1677316 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=21326314 A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the NEFL gene. ICD10CM:G60.0 OMIM:607734 ORDO:101085 CMT1F Charcot-Marie-Tooth neuropathy type 1F DOID:0110149 Charcot-Marie-Tooth disease type 1F A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the NEFL gene. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=12566280 A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the early growth response gene-2 (EGR2). ICD10CM:G60.0 OMIM:607678 ORDO:101084 CMT1D Charcot-Marie-Tooth neuropathy type 1D HMSN ID HMSN1D hereditary motor and sensory neuropathy 1D DOID:0110150 Charcot-Marie-Tooth disease type 1D A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the early growth response gene-2 (EGR2). url:http://www.ncbi.nlm.nih.gov/pubmed/?term=9537424 A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the LITAF gene on chromosome 16p13. ICD10CM:G60.0 OMIM:601098 ORDO:101083 CMT slow nerve conduction type C CMT1C Charcot-Marie-Tooth neuropathy type 1C HMSN IC HMSN1C neuropathy hereditary motor and sensory type 1C DOID:0110151 Charcot-Marie-Tooth disease type 1C A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the LITAF gene on chromosome 16p13. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=12525712 A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the gene encoding myelin protein zero (MPZ). ICD10CM:G60.0 OMIM:118200 ORDO:101082 CMT1B Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy Charcot-Marie-Tooth neuropathy type 1B HMSN IB HMSN1B autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B hereditary motor and sensory neuropathy IB peroneal muscular atrophy DOID:0110152 Charcot-Marie-Tooth disease type 1B A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the gene encoding myelin protein zero (MPZ). url:http://www.ncbi.nlm.nih.gov/pubmed/?term=7693129 A Charcot-Marie-Tooth disease type 1 that has_material_basis_in autosomal dominant mutation in the peripheral myelin protein-22 gene (PMP22) ICD10CM:G60.0 OMIM:118300 ORDO:90658 CMT1E Charcot-Marie-Tooth disease and deafness Charcot-Marie-Tooth disease demyelinating type 1E Charcot-Marie-Tooth disease-deafness autosomal dominant Charcot-Marie-Tooth neuropathy and deafness DOID:0110153 Charcot-Marie-Tooth disease type 1E A Charcot-Marie-Tooth disease type 1 that has_material_basis_in autosomal dominant mutation in the peripheral myelin protein-22 gene (PMP22) url:http://www.ncbi.nlm.nih.gov/pubmed/?term=10330345 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the KIF1B gene on chromosome 1p36. ICD10CM:G60.0 OMIM:118210 ORDO:99946 CMT2A1 Charcot-Marie-Tooth disease neuronal type 2A1 Charcot-Marie-Tooth neuropathy type 2A1 HMSN IIA1 HMSN2A1 autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1 hereditary motor and sensory neuropathy IIA1 DOID:0110154 Charcot-Marie-Tooth disease type 2A1 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the KIF1B gene on chromosome 1p36. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=11389829 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MFN2 gene on chromosome 1p36.2. ICD10CM:G60.0 OMIM:609260 ORDO:99947 CMT2A2 Charcot-Marie-Tooth neuronal type 2A2 Charcot-Marie-Tooth neuropathy type 2A2 HMSN IIA2 HMSN2A2 autosomal dominant axonal Charcot-Marie-Tooth disease type 2A2 hereditary motor and sensory neuropathy IIA2 DOID:0110155 Charcot-Marie-Tooth disease type 2A2 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MFN2 gene on chromosome 1p36.2. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=15064763 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=19889647 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22. ICD10CM:G60.0 OMIM:605588 ORDO:98856 CMT2B1 Charcot-Marie-Tooth disease neuronal type 2B1 Charcot-Marie-Tooth neuropathy type 2B1 autosomal recessive Charcot-Marie-Tooth disease type 2B1 autosomal recessive axonal CMT4C1 autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1 DOID:0110156 Charcot-Marie-Tooth disease type 2B1 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=11799477 A Charcot-Marie-Tooth disease type 2 characterized by hearing loss and pupillary abnormalities and has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23. ICD10CM:G60.0 OMIM:607736 ORDO:99943 CMT2J Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities Charcot-Marie-Tooth neuropathy type 2J DOID:0110157 Charcot-Marie-Tooth disease type 2J A Charcot-Marie-Tooth disease type 2 characterized by hearing loss and pupillary abnormalities and has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=10071056 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23. ICD10CM:G60.0 OMIM:607677 ORDO:99942 CMT2I Charcot-Marie-Tooth neuropathy type 2I DOID:0110158 Charcot-Marie-Tooth disease type 2I A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=10071056 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the RAB7 gene on chromosome 3q21. ICD10CM:G60.0 OMIM:600882 ORDO:99936 CMT2B Charcot-Marie-Tooth neuropathy type 2B HMSN IIB HMSN2B autosomal dominant Charcot-Marie-Tooth disease type 2B hereditary motor and sensory nueropathy IIB DOID:0110159 Charcot-Marie-Tooth disease type 2B A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the RAB7 gene on chromosome 3q21. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=12545426 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25. ICD10CM:G60.0 OMIM:617017 ORDO:443950 AR-CMT2T CMT2T Charcot-Marie-Tooth neuropathy type 2T autosomal recessive axonal Charcot-Marie-Tooth disease type 2T DOID:0110160 Charcot-Marie-Tooth disease axonal type 2T A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=26991897 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the TRIM2 gene on chromosome 4q. ICD10CM:G60.0 OMIM:615490 ORDO:397968 CMT2R Charcot-Marie-Tooth neuropathy type 2R autosomal recessive axonal Charcot-Marie-Tooth disease type 2R DOID:0110161 Charcot-Marie-Tooth disease type 2R A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the TRIM2 gene on chromosome 4q. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=23562820 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=25893792 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the HARS gene on chromosome 5q31. OMIM:616625 CMT2W Charcot-Marie-Tooth neuropathy type 2W autosomal dominant axonal Charcot-Marie-Tooth disease type 2W DOID:0110162 Charcot-Marie-Tooth disease, axonal type 2W A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the HARS gene on chromosome 5q31. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=22930593 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1). ICD10CM:G60.0 OMIM:606595 ORDO:99940 CMT2F Charcot-Marie-Tooth neuronal type 2F Charcot-Marie-Tooth neuropathy type 2F autosomal dominant Charcot-Marie-Tooth disease type 2F DOID:0110163 Charcot-Marie-Tooth disease axonal type 2F A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1). url:http://www.ncbi.nlm.nih.gov/pubmed/?term=15122254 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the gene encoding glycyl tRNA synthetase (GARS). ICD10CM:G60.0 OMIM:601472 ORDO:99938 CMT2D Charcot-Marie-Tooth disease neuronal type 2D Charcot-Marie-Tooth neuropathy type 2D autosomal dominant Charcot-Marie-Tooth disease type 2D DOID:0110164 Charcot-Marie-Tooth disease type 2D A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the gene encoding glycyl tRNA synthetase (GARS). url:http://www.ncbi.nlm.nih.gov/pubmed/?term=12690580 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the light polypeptide neurofilament protein gene (NEFL) on chromosome 8p21. ICD10CM:G60.0 OMIM:607684 ORDO:99939 CMT2E Charcot-Marie-Tooth neuropathy type 2E autosomal dominant Charcot-Marie-Tooth disease type 2E DOID:0110165 Charcot-Marie-Tooth disease type 2E A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the light polypeptide neurofilament protein gene (NEFL) on chromosome 8p21. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=10841809 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=17620486 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in variation in the region 8q13-q23. ICD10CM:G60.0 OMIM:607731 ORDO:101102 AR-CMT2C Autosomal recessive axonal CMT4C2 Axonal Charcot-Marie-Tooth disease with pyramidal involvement CMT2H Charcot-Marie-Tooth disease type 2H autosomal recessive axonal Charcot-Marie-Tooth disease with pyramidal features autosomal recessive axonal Charcot-Marie-Tooth neuropathy with pyramidal features DOID:0110166 Charcot-Marie-Tooth disease axonal type 2H A Charcot-Marie-Tooth disease type 2 that has_material_basis_in variation in the region 8q13-q23. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=11166163 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP1 gene on chromosome 8q. ICD10CM:G60.0 OMIM:607831 ORDO:101097 ARCMT2K Charcot-Marie-Tooth neuropathy axonal type 2K autosomal recessive Charcot-Marie-Tooth disease with hoarseness autosomal recessive axonal CMT4C4 autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K autosomal recessive axonal Charcot-Marie-Tooth disease type 2K DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP1 gene on chromosome 8q. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=12707075 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the VCP gene on chromosome 9p13. ICD10CM:G60.0 OMIM:616687 ORDO:435387 CMT2 due to VCP mutation CMT2Y Charcot-Marie-Tooth neuropathy type 2Y autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation autosomal dominant axonal Charcot-Marie-Tooth type 2Y DOID:0110168 Charcot-Marie-Tooth disease type 2Y A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the VCP gene on chromosome 9p13. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=25125609 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or heterozygous mutation in the LRSAM1 gene on chromosome 9q33. ICD10CM:G60.0 OMIM:614436 ORDO:300319 CMT2P Charcot-Marie-Tooth disease type 2P Charcot-Marie-Tooth neuropathy type 2P DOID:0110169 Charcot-Marie-Tooth disease axonal type 2P A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or heterozygous mutation in the LRSAM1 gene on chromosome 9q33. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=20865121 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14. ICD10CM:G60.0 OMIM:615025 ORDO:329258 CMT2Q Charcot-Marie-Tooth neuropathy type 2Q autosomal dominant Charcot-Marie-Tooth disease type 2Q autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q DOID:0110170 Charcot-Marie-Tooth disease axonal type 2Q A Charcot-Marie-Tooth disease type 2 that has_material_basis_in a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=23141294 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13. OMIM:616155 ORDO:443073 CMT2S Charcot-Marie-Tooth disease type 2S Charcot-Marie-Tooth neuropathy type 2S autosomal recessive axonal Charcot-Marie-Tooth type 2S DOID:0110171 Charcot-Marie-Tooth disease axonal type 2S A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=25439726 DOID:0110172 obsolete Charcot-Marie-Tooth disease axonal type 2G true A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MARS gene on chromosome 12q13. ICD10CM:G60.0 OMIM:616280 ORDO:397735 CMT2U Charcot-Marie-Tooth neuropathy type 2U autosomal dominant Charcot-Marie-Tooth disease type 2U autosomal dominant axonal Charcot-Marie-Tooth disease type 2U DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MARS gene on chromosome 12q13. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=23729695 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the HSPB8 gene. ICD10CM:G60.0 OMIM:608673 ORDO:99945 CMT2L Charcot-Marie-Tooth neuropathy axonal type 2L autosomal dominant Charcot-Marie-Tooth disease type 2L autosomal dominant axonal Charcot-Marie-Tooth disease type 2L DOID:0110174 Charcot-Marie-Tooth disease axonal type 2L A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the HSPB8 gene. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=15565283 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32. ICD10CM:G60.0 OMIM:614228 ORDO:284232 Charcot-Marie-Tooth neuropathy axonal type 2O autosomal dominant Charcot-Marie-Tooth disease type 2O autosomal dominant axonal Charcot-Marie-Tooth disease type 2O DOID:0110175 Charcot-Marie-Tooth disease axonal type 20 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=21820100 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the SPG11 gene on chromosome 15q21. OMIM:616668 ORDO:466775 Charcot-Marie-Tooth neuropathy type 2X autosomal recessive axonal Charcot-Marie-Tooth disease type 2X DOID:0110176 Charcot-Marie-Tooth disease axonal type 2X A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the SPG11 gene on chromosome 15q21. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=26556829 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the AARS gene on chromosome 16q21. ICD10CM:G60.0 OMIM:613287 ORDO:228174 CMT2N Charcot-Marie-Tooth neuropathy axonal type 2N autosomal dominant Charcot-Marie-Tooth disease type 2N autosomal dominant axonal Charcot-Marie-Tooth disease type 2N DOID:0110177 Charcot-Marie-Tooth disease axonal type 2N A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the AARS gene on chromosome 16q21. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=20045102 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21. OMIM:616491 ORDO:447964 CMT2V Charcot-Marie-Tooth neuropathy type 2V autosomal dominant Charcot-Marie-Tooth disease type 2V autosomal dominant axonal Charcot-Marie-Tooth disease type 2V DOID:0110178 Charcot-Marie-Tooth disease axonal type 2V A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=25818867 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the MED25 gene. ICD10CM:G60.0 OMIM:605589 ORDO:101101 AR-CMT2B2 ARCMT2B Autosomal recessive axonal CMT4C3 CMT2B2 Charcot-Marie-Tooth disease neuronal type 2B2 Charcot-Marie-Tooth neuropathy type 2B2 autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2 DOID:0110179 Charcot-Marie-Tooth disease type 2B2 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the MED25 gene. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=19290556 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NEFH gene on chromosome 22q12. OMIM:616924 CMT2CC Charcot-Marie-Tooth neuropathy type 2CC DOID:0110180 Charcot-Marie-Tooth disease axonal type 2CC A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NEFH gene on chromosome 22q12. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=27040688 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MORC2 gene on chromosome 22q12. OMIM:616688 ORDO:466768 CMT2Z Charcot-Marie-Tooth neuropathy type 2Z autosomal dominant axonal Charcot-Marie-Tooth disease type 2Z DOID:0110181 Charcot-Marie-Tooth disease axonal type 2Z A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MORC2 gene on chromosome 22q12. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=26497905 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24. ICD10CM:G60.0 OMIM:606071 ORDO:99937 CMT2C Charcot-Marie-Tooth neuropathy type 2C HMSN2C autosomal cominant axonal Charcot-Marie-Tooth disease type 2C autosomal dominant Charcot-Marie-Tooth disease type 2C hereditary motor and sensory neuropathy type IIc DOID:0110182 Charcot-Marie-Tooth disease axonal type 2C A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=20037588 A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SH3TC2 gene. ICD10CM:G60.0 OMIM:601596 ORDO:99949 CMT4C Charcot-Marie-Tooth neuropathy type 4C autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4C DOID:0110183 Charcot-Marie-Tooth disease type 4C A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SH3TC2 gene. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=14574644 A Charcot-Marie-Tooth disease type 4 that has_material_basis_in compound heterozygous mutations in the FIG4 gene on chromosome 6q21. ICD10CM:G60.0 OMIM:611228 ORDO:139515 CMT4J autosomal recessive Charcot-Marie-Tooth disease type 4J DOID:0110184 Charcot-Marie-Tooth disease type 4J A Charcot-Marie-Tooth disease type 4 that has_material_basis_in compound heterozygous mutations in the FIG4 gene on chromosome 6q21. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=17572665 A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding ganglioside-induced differentiation-associated protein-1 (GDAP1) on chromosome 8q21. ICD10CM:G60.0 OMIM:214400 ORDO:99948 CMT4A Charcot-Marie-Tooth neuropathy type 4A autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4A DOID:0110185 Charcot-Marie-Tooth disease type 4A A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding ganglioside-induced differentiation-associated protein-1 (GDAP1) on chromosome 8q21. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=11743579 A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the N-myc downstream-regulated gene-1 (NDRG1) on chromosome 8q24. ICD10CM:G60.0 OMIM:601455 ORDO:99950 CMT4D Charcot-Marie-Tooth neuropathy type 4D HMSN Lom type HMSN-Lom HMSN4D HMSNL autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D hereditary motor abd sensory neuropathy LOM type DOID:0110186 Charcot-Marie-Tooth disease type 4D A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the N-myc downstream-regulated gene-1 (NDRG1) on chromosome 8q24. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=10831399 A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34. ICD10CM:G60.0 OMIM:616684 ORDO:391351 CMT4K SURF1-related CMT4 SURF1-related Charcot-Marie-Tooth disease type 4 SURF1-related severe demyelinating Charcot-Marie-Tooth disease autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K DOID:0110187 Charcot-Marie-Tooth disease type 4K A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=24027061 A Leber congenital amaurosis that has_material_basis_in mutation in the LRAT gene on chromosome 4q31. ICD10CM:H35.5 OMIM:613341 LCA14 DOID:0110188 Leber congenital amaurosis 14 A Leber congenital amaurosis that has_material_basis_in mutation in the LRAT gene on chromosome 4q31. https://www.ncbi.nlm.nih.gov/pubmed/17011878 A Leber congenital amaurosis that has_material_basis_in mutation in the TULP1 gene on chromosome 6p21.3. ICD10CM:H35.5 OMIM:613843 LCA15 DOID:0110189 Leber congenital amaurosis 15 A Leber congenital amaurosis that has_material_basis_in mutation in the TULP1 gene on chromosome 6p21.3. https://www.ncbi.nlm.nih.gov/pubmed/15024725 A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the SBF2 gene. ICD10CM:G60.0 OMIM:604563 ORDO:99956 CMT4B2 Charcot-Marie-Tooth neuropathy type 4B2 autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B2 DOID:0110190 Charcot-Marie-Tooth disease type 4B2 A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the SBF2 gene. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=12554688 A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding the myotubularin-related protein-2 (MTMR2). ICD10CM:G60.0 OMIM:601382 ORDO:99955 CMT4B1 Charcot-Marie-Tooth neuropathy type 4B1 autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1 DOID:0110191 Charcot-Marie-Tooth disease type 4B1 A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding the myotubularin-related protein-2 (MTMR2). url:http://www.ncbi.nlm.nih.gov/pubmed/?term=10802647 A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutations in the gene encoding frabin (FGD4). ICD10CM:G60.0 OMIM:609311 ORDO:99954 CMT4H Charcot-Marie-Tooth neuropathy type 4H autosomal recessive Charcot-Marie-Tooth disease type 4H autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H DOID:0110192 Charcot-Marie-Tooth disease type 4H A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutations in the gene encoding frabin (FGD4). url:http://www.ncbi.nlm.nih.gov/pubmed/?term=15744041 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=17564959 A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the periaxin gene (PRX) on chromosome 19q13. ICD10CM:G60.0 OMIM:614895 ORDO:99952 CMT4F DOID:0110193 Charcot-Marie-Tooth disease type 4F A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the periaxin gene (PRX) on chromosome 19q13. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=11157804 A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SBF1 gene on chromosome 22q. ICD10CM:G60.0 OMIM:615284 ORDO:363981 CMT4B3 DOID:0110194 Charcot-Marie-Tooth disease type 4B3 A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SBF1 gene on chromosome 22q. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=23749797 A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or heterozygous mutation in the EGR2 gene on chromosome 10q21 or by heterozygous mutation in the MPZ gene on chromosome 1q23. ICD10CM:G60.0 OMIM:605253 ORDO:99951 CMT4E Charcot-Marie-Tooth neuropathy type 4E Neuropathy, congenital hypomyelinating, 1 autosomal recessive congenital hypomyelinating or amyelinating neuropathy DOID:0110195 Charcot-Marie-Tooth disease type 4E A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or heterozygous mutation in the EGR2 gene on chromosome 10q21 or by heterozygous mutation in the MPZ gene on chromosome 1q23. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=15184631 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=9537424 A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the HK1 gene on chromosome 10q22. ICD10CM:G60.0 OMIM:605285 ORDO:99953 CMT4G Charcot-Marie-Tooth neuropathy type 4G HMSNR autosomal recessive Charcot-Marie-Tooth disease type 4G hereditary motor and sensory neuropathy Russe type DOID:0110196 Charcot-Marie-Tooth disease type 4G A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the HK1 gene on chromosome 10q22. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=19536174 A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in mutation in the gene encoding dynamin-2 (DNM2). ICD10CM:G60.0 OMIM:606482 ORDO:100044 CMTDI1 CMTDIB Charcot-Marie-Tooth neuropathy dominant intermediate B DI-CMTB DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in mutation in the gene encoding dynamin-2 (DNM2). url:http://www.ncbi.nlm.nih.gov/pubmed/?term=15731758 A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous or compound heterozygous mutation in the PLEKHG5 gene on chromosome 1p36. ICD10CM:G60.0 OMIM:615376 ORDO:369867 CMTRIC RI-CMT type C RI-CMTC autosomal recessive intermediate Charcot-Marie-Tooth disease type C DOID:0110198 Charcot-Marie-Tooth disease recessive intermediate C A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous or compound heterozygous mutation in the PLEKHG5 gene on chromosome 1p36. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=23777631 A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the YARS gene on chromosome 1p35. ICD10CM:G60.0 OMIM:608323 ORDO:100045 CMTDIC Charcot-Marie-Tooth neuropathy dominant intermediate C DI-CMTC autosomal dominant intermediate Charcot-Marie-Tooth disease type C DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the YARS gene on chromosome 1p35. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=16429158 A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23. ICD10CM:G60.0 OMIM:607791 ORDO:100046 CMTDID Charcot-Marie-Tooth neuropathy dominant intermediate D DI-CMTD autosomal dominant intermediate Charcot-Marie-Tooth disease type D DOID:0110200 Charcot-Marie-Tooth disease dominant intermediate D A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=10406984 A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the GDAP1 gene on chromosome 8q21. OMIM:608340 ORDO:217055 CMTRIA Charcot-Marie-Tooth neuropathy recessive intermediate A RI-CMTA autosomal recessive intermediate Charcot-Marie-Tooth disease type A DOID:0110201 Charcot-Marie-Tooth disease recessive intermediate A A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the GDAP1 gene on chromosome 8q21. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=12499475 A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in variation in the region 10q24.1-q25.1. ICD10CM:G60.0 OMIM:606483 ORDO:100043 CMTDIA Charcot-Marie-Tooth neuropathy dominant intermediate A DI-CMTA autosomal dominant intermediate Charcot-Marie-Tooth disease type A DOID:0110202 Charcot-Marie-Tooth disease dominant intermediate A A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in variation in the region 10q24.1-q25.1. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=11533914 A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the COX6A1 gene on chromosome 12q24. ICD10CM:G60.0 OMIM:616039 ORDO:435998 CMTRID RI-CMT type D autosomal recessive intermediate Charcot-Marie-Tooth disease type D DOID:0110203 Charcot-Marie-Tooth disease recessive intermediate D A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the COX6A1 gene on chromosome 12q24. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=25152455 A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in compound heterozygous mutation in the KARS gene on chromosome 16q23. ICD10CM:G60.0 OMIM:613641 ORDO:254334 RI-CMTB CMTRIB Charcot-Marie-Tooth neuropathy recessive intermediate B autosomal recessive intermediate Charcot-Marie-Tooth disease type B DOID:0110204 Charcot-Marie-Tooth disease recessive intermediate B A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in compound heterozygous mutation in the KARS gene on chromosome 16q23. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=20920668 A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the INF2 gene on chromosome 14q32. ICD10CM:G60.0 OMIM:614455 ORDO:93114 CMTDIE Charcot-Marie-Tooth disease-nephropathy syndrome Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis autosomal dominant intermediate Charcot-Marie-Tooth disease type E DOID:0110205 Charcot-Marie-Tooth disease dominant intermediate E A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the INF2 gene on chromosome 14q32. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=22187985 A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the GNB4 gene on chromosome 3q28. ICD10CM:G60.0 OMIM:615185 ORDO:352670 CMTDIF autosomal dominant intermediate Charcot-Marie-Tooth disease type F DOID:0110206 Charcot-Marie-Tooth disease dominant intermediate F A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the GNB4 gene on chromosome 3q28. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=23434117 A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the PDK3 gene on chromosome Xp22. ICD10CM:G60.0 OMIM:300905 ORDO:352675 CMT6X CMTX6 Charcot-Marie-Tooth neuropathy X-linked dominant 6 X-linked Charcot-Marie-Tooth disease type 6 DOID:0110207 Charcot-Marie-Tooth disease X-linked dominant 6 A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the PDK3 gene on chromosome Xp22. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=23297365 A Charcot-Marie-Tooth disease X-linked that has_material_basis_in variation in the region Xp22.2. ICD10CM:G60.0 OMIM:302801 ORDO:101076 CMTX2 Charcot-Marie-Tooth neuropathy X-linked recessive 2 X-linked Charcot-Marie-Tooth disease type 2 DOID:0110208 Charcot-Marie-Tooth disease X-linked recessive 2 A Charcot-Marie-Tooth disease X-linked that has_material_basis_in variation in the region Xp22.2. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=1557086 A Charcot-Marie-Tooth disease X-linked that has_material_basis_in hemizygous or heterozygous mutation in the GJB1 gene on chromosome Xq13. ICD10CM:G60.0 OMIM:302800 ORDO:101075 CMT1X CMTX1 Charcot-Marie-Tooth neuropathy X-linked dominant 1 X-linked Charcot-Marie-Tooth disease type 1 DOID:0110209 Charcot-Marie-Tooth disease X-linked dominant 1 A Charcot-Marie-Tooth disease X-linked that has_material_basis_in hemizygous or heterozygous mutation in the GJB1 gene on chromosome Xq13. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=8266101 A Charcot-Marie-Tooth disease X-linked that has_material_basis_in loss-of-function mutation in the PRPS1 gene on chromosome Xq22. ICD10CM:G60.0 OMIM:311070 ORDO:99014 CMT5X CMTX5 Charcot-Marie-Tooth neuropathy X-linked recessive 5 Rosenberg-Chutorian syndrome X-linked Charcot-Marie-Tooth disease type 5 optic atrophy, polyneuropathy, and deafness DOID:0110210 Charcot-Marie-Tooth disease X-linked recessive 5 A Charcot-Marie-Tooth disease X-linked that has_material_basis_in loss-of-function mutation in the PRPS1 gene on chromosome Xq22. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=15955956 A Charcot-Marie-Tooth disease X-linked that has_material_basis_in variation in the region Xq26. ICD10CM:G60.0 OMIM:302802 ORDO:101077 CMT3X CMTX3 Charcot-Marie-Tooth neuropathy X-linked recessive 3 X-linked Charcot-Marie-Tooth disease type 3 DOID:0110211 Charcot-Marie-Tooth disease X-linked recessive 3 A Charcot-Marie-Tooth disease X-linked that has_material_basis_in variation in the region Xq26. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=1557086 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=1674639 A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the AIFM1 gene on chromosome Xq26. ICD10CM:G60.0 OMIM:310490 ORDO:101078 CMT4X CMTX4 COWCK Charcot-Marie-Tooth disease with deafness and mental retardation Cowchock syndrome NADMR NAMSD X-linked Charcot-Marie-Tooth disease type 4 axonal motor sensory neuropathy with deafness and mental retardation DOID:0110212 Charcot-Marie-Tooth disease X-linked recessive 4 A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the AIFM1 gene on chromosome Xq26. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=23217327 A cleft palate seen as an isolated malformation, distinct from cleft lip with or without cleft palate ICD10CM:Q35.1 ICD10CM:Q35.3 ICD10CM:Q35.5 ICD10CM:Q35.7 ICD10CM:Q35.9 OMIM:119540 ORDO:2014 DOID:0110213 isolated cleft palate A cleft palate seen as an isolated malformation, distinct from cleft lip with or without cleft palate url:http://www.ncbi.nlm.nih.gov/pubmed/?term=7143384 Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate. ICD10CM:Q35.3 OMIM:119570 ORDO:99772 cleft velum cleft velum palatinum soft cleft palate DOID:0110214 cleft soft palate Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate. ORDO:99772 A Leber congenital amaurosis that is characterized by severe visual dysfunction, nystagmus, the oculodigital sign, and a normal fundus with onset in infancy and has_material_basis_in mutation in the LCA5 gene on chromosome 6q14.1. ICD10CM:H35.5 OMIM:604537 LCA5 DOID:0110215 Leber congenital amaurosis 5 A Leber congenital amaurosis that is characterized by severe visual dysfunction, nystagmus, the oculodigital sign, and a normal fundus with onset in infancy and has_material_basis_in mutation in the LCA5 gene on chromosome 6q14.1. https://www.ncbi.nlm.nih.gov/pubmed/17546029 A Leber congenital amaurosis that has_material_basis_in mutation n the IMPDH1 gene on chromosome 7q31.3-q32. ICD10CM:H35.5 OMIM:613837 LCA11 DOID:0110216 Leber congenital amaurosis 11 A Leber congenital amaurosis that has_material_basis_in mutation n the IMPDH1 gene on chromosome 7q31.3-q32. https://www.ncbi.nlm.nih.gov/pubmed/16384941 A Leber congenital amaurosis that has_material_basis_in mutation in the GDF6 gene on chromosome 8q22. ICD10CM:H35.5 OMIM:615360 LCA17 DOID:0110217 Leber congenital amaurosis 17 A Leber congenital amaurosis that has_material_basis_in mutation in the GDF6 gene on chromosome 8q22. https://www.ncbi.nlm.nih.gov/pubmed/23307924 A Brugada syndrome that has material basis in heterozygous mutation in the SCN5A gene on chromosome 3p22. ICD10CM:I49.8 OMIM:601144 BRGDA1 DOID:0110218 Brugada syndrome 1 A Brugada syndrome that has material basis in heterozygous mutation in the SCN5A gene on chromosome 3p22. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=9521325 A Brugada syndrome that has material basis in heterozygous mutation in the GPD1L gene on chromosome 3p22. ICD10CM:I49.8 OMIM:611777 BRGDA2 DOID:0110219 Brugada syndrome 2 A Brugada syndrome that has material basis in heterozygous mutation in the GPD1L gene on chromosome 3p22. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=17967977 A Brugada syndrome that has material basis in heterozygous mutation in the gene encoding the alpha-1C subunit of the L-type voltage-dependent calcium channel (CACNA1C) on chromosome 12p13. ICD10CM:I49.8 OMIM:611875 BRGDA3 DOID:0110220 Brugada syndrome 3 A Brugada syndrome that has material basis in heterozygous mutation in the gene encoding the alpha-1C subunit of the L-type voltage-dependent calcium channel (CACNA1C) on chromosome 12p13. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=17224476 A Brugada syndrome that has material basis in heterozygous mutation in the gene encoding the beta-2 subunit of the voltage-dependent L-type calcium channel (CACNB2) on chromosome 10p12. ICD10CM:I49.8 OMIM:611876 BRGDA4 DOID:0110221 Brugada syndrome 4 A Brugada syndrome that has material basis in heterozygous mutation in the gene encoding the beta-2 subunit of the voltage-dependent L-type calcium channel (CACNB2) on chromosome 10p12. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=17224476 A Brugada syndrome that has material basis in heterozygous mutation in the SCN1B gene on chromosome 19q13. ICD10CM:I49.8 OMIM:612838 BRGDA5 DOID:0110222 Brugada syndrome 5 A Brugada syndrome that has material basis in heterozygous mutation in the SCN1B gene on chromosome 19q13. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=18464934 A Brugada syndrome that has material basis in heterozygous mutation in the KCNE3 gene on chromosome 11q13. ICD10CM:I49.8 OMIM:613119 BRGDA6 DOID:0110223 Brugada syndrome 6 A Brugada syndrome that has material basis in heterozygous mutation in the KCNE3 gene on chromosome 11q13. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=19122847 A Brugada syndrome that has material basis in heterozygous mutation in the SCN3B gene on chromosome 11q24. ICD10CM:I49.8 OMIM:613120 BRGDA7 DOID:0110224 Brugada syndrome 7 A Brugada syndrome that has material basis in heterozygous mutation in the SCN3B gene on chromosome 11q24. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=20031595 A Brugada syndrome that has material basis in heterozygous mutation in the HCN4 gene on chromosome 15q24. ICD10CM:I49.8 OMIM:613123 BRGDA8 DOID:0110225 Brugada syndrome 8 A Brugada syndrome that has material basis in heterozygous mutation in the HCN4 gene on chromosome 15q24. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=19165230 A Brugada syndrome that has material basis in heterozygous mutation in the KCND3 gene on chromosome 1p13. ICD10CM:I49.8 OMIM:616399 BRGDA9 DOID:0110226 Brugada syndrome 9 A Brugada syndrome that has material basis in heterozygous mutation in the KCND3 gene on chromosome 1p13. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=21349352 A cataract that has_material_basis_in mutation in the region 14q22-q23. ICD10CM:Q12.0 OMIM:115650 CTRCT32 CTAA1 CTPP5 anterior polar cataract 1 posterior polar cataract 5 DOID:0110227 cataract 32 multiple types A cataract that has_material_basis_in mutation in the region 14q22-q23. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=6694185 A cataract that has_material_basis_in variation in the region 1pter-p36.13. ICD10CM:Q12.0 OMIM:115665 CCV CTRCT8 cataract, congenital, Volkmann type DOID:0110228 cataract 8 multiple types A cataract that has_material_basis_in variation in the region 1pter-p36.13. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=7607651 A cataract that has_material_basis_in heterozygous mutation in the EPHA2 gene on chromosome 1p36. ICD10CM:Q12.0 OMIM:116600 CTRCT6 ARCC2 CTPP1 age related cortical cataract 2 posterior polar cataract 1 DOID:0110229 cataract 6 multiple types A cataract that has_material_basis_in heterozygous mutation in the EPHA2 gene on chromosome 1p36. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=19005574 A cataract that has_material_basis_in variation in the region 1p34.3-p32.2. ICD10CM:Q12.0 OMIM:612968 CATC3 CTRCT34 autosomal recessive congenital cataract 3 cataract 34 multiple types with or without microcornea DOID:0110230 cataract 34 multiple types A cataract that has_material_basis_in variation in the region 1p34.3-p32.2. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=17893665 A cataract that has_material_basis_in heterozygous mutation in the gene encoding the alpha-8 subunit of the gap junction protein (GJA8) on chromosome 1q21. ICD10CM:Q12.0 OMIM:116200 CTRCT1 Duffy linked cataract cataract 1, multiple types, with or without microcornea CAE1 CZP1 zonular pulverulent cataract 1 DOID:0110231 cataract 1 multiple types A cataract that has_material_basis_in heterozygous mutation in the gene encoding the alpha-8 subunit of the gap junction protein (GJA8) on chromosome 1q21. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=9497259 A cataract that has_material_basis_in variation in the region 2pter-p24. ICD10CM:Q12.0 OMIM:115800 ORDO:98990 cataract 29 coralliform DOID:0110232 cataract 29 A cataract that has_material_basis_in variation in the region 2pter-p24. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=15933805 A cataract that has_material_basis_in mutation in the region 2p12. ICD10CM:Q12.0 OMIM:607304 CTRCT27 cataract 27 nuclear progressive DOID:0110233 cataract 27 A cataract that has_material_basis_in mutation in the region 2p12. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=12091400 A cataract that has_material_basis_in heterozygous mutation in the gamma-D-crystallin gene (CRYGD) on chromosome 2q33. ICD10CM:Q12.0 OMIM:115700 CTRCT4 cataract 4 multiple types with or without microcornea CCA3 congenital cataract cerulean type 3 DOID:0110234 cataract 4 multiple types A cataract that has_material_basis_in heterozygous mutation in the gamma-D-crystallin gene (CRYGD) on chromosome 2q33. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=9927684 A cataract that has_material_basis_in heterozygous mutation in the CRYGC gene on chromosome 2q33. ICD10CM:Q12.0 OMIM:604307 CTRCT2 cataract 2 multiple types with or without microcornea DOID:0110235 cataract 2 multiple types A cataract that has_material_basis_in heterozygous mutation in the CRYGC gene on chromosome 2q33. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=10521291 A cataract that has_material_basis_in heterozygous mutation in the CRYGB gene on chromosome 2q34. ICD10CM:Q12.0 OMIM:615188 CTRCT39 autosomal dominant cataract 39 multiple types DOID:0110236 cataract 39 multiple types A cataract that has_material_basis_in heterozygous mutation in the CRYGB gene on chromosome 2q34. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=23288985 ICD10CM:Q12.0 OMIM:115900 A cataract that has_material_basis_in heterozygous mutation in the CRYBA2 gene on chromosome 2q35. CTRCT42 DOID:0110237 cataract 42 A cataract that has_material_basis_in heterozygous mutation in the CRYBA2 gene on chromosome 2q35. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=23508780 A cataract that has_material_basis_in homozygous mutation in the FYCO1 gene on chromosome 3p21.3. ICD10CM:Q12.0 OMIM:610019 CATC2 CTRCT18 autosomal recessive congenital cataract 2 cataract 18 autosomal recessive DOID:0110238 cataract 18 A cataract that has_material_basis_in homozygous mutation in the FYCO1 gene on chromosome 3p21.3. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=21636066 A cataract that has_material_basis_in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22. ICD10CM:Q12.0 OMIM:611597 CTRCT12 DOID:0110239 cataract 12 multiple types A cataract that has_material_basis_in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=10729115 A cataract that has_material_basis_in heterozygous mutation in the CRYGS gene on chromosome 3q27. ICD10CM:Q12.0 OMIM:116100 CTRCT20 DOID:0110240 cataract 20 multiple types A cataract that has_material_basis_in heterozygous mutation in the CRYGS gene on chromosome 3q27. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=16141006 A cataract that has_material_basis_in heterozygous mutation in the WFS1 gene on chromosome 4p16. ICD10CM:Q12.0 OMIM:116400 CTRCT41 congenital nuclear type cataract 41 DOID:0110241 cataract 41 A cataract that has_material_basis_in heterozygous mutation in the WFS1 gene on chromosome 4p16. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=23531866 A cataract that has_material_basis_in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24. ICD10CM:Q12.0 OMIM:116700 CTRCT13 DOID:0110242 cataract 13 with adult i phenotype A cataract that has_material_basis_in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=11739194 A cataract that has_material_basis_in homozygous mutation in the LEMD2 gene on chromosome 6p21. ICD10CM:Q12.0 OMIM:212500 CTRCT46 juvenilae cataract Hutterite type DOID:0110243 cataract 46 juvenile-onset A cataract that has_material_basis_in homozygous mutation in the LEMD2 gene on chromosome 6p21. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=26788539 A cataract that has_material_basis_in variation in the region 6p12-q12. OMIM:609026 ARCC1 CTRCT28 age-related cortical cataract 1 DOID:0110244 cataract 28 A cataract that has_material_basis_in variation in the region 6p12-q12. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=15452352 A cataract that has_material_basis_in homozygous mutation in the AGK gene on chromosome 7q34. ICD10CM:Q12.0 OMIM:614691 CATC5 CTRCT38 autosomal recessive congenital cataract 5 DOID:0110245 cataract 38 A cataract that has_material_basis_in homozygous mutation in the AGK gene on chromosome 7q34. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=22415731 A cataract that has_material_basis_in variation in the region 9q13-q22. ICD10CM:Q12.0 OMIM:605749 CTRCT26 DOID:0110246 cataract 26 multiple types A cataract that has_material_basis_in variation in the region 9q13-q22. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=11179024 A cataract that has_material_basis_in homozygous mutation in the TDRD7 gene on chromosome 9q22.33. OMIM:613887 CATC4 CTRCT36 autosomal recessive congenital cataract 4 DOID:0110247 cataract 36 A cataract that has_material_basis_in homozygous mutation in the TDRD7 gene on chromosome 9q22.33. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=21436445 A cataract that has_material_basis_in heterozygous mutation in the VIM gene on chromosome 10p13. ICD10CM:Q12.0 OMIM:116300 ORDO:98984 CTRCT30 Dusty cataract cataract 30 pulverulent cataract Coppock-like DOID:0110248 cataract 30 A cataract that has_material_basis_in heterozygous mutation in the VIM gene on chromosome 10p13. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=19126778 A cataract that has_material_basis_in heterozygous mutation in the PITX3 gene on chromosome 10q24. ICD10CM:Q12.0 OMIM:610623 CTRCT11 CPP4 CTPP4 posterior polar cataract 4 DOID:0110249 cataract 11 multiple types A cataract that has_material_basis_in heterozygous mutation in the PITX3 gene on chromosome 10q24. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=9620774 A cataract that has_material_basis_in heterozygous or homozygous mutation in the CRYAB gene on chromosome 11q. ICD10CM:Q12.0 OMIM:613763 CTRCT16 CTPP2 posterior polar cataract 2 DOID:0110250 cataract 16 multiple types A cataract that has_material_basis_in heterozygous or homozygous mutation in the CRYAB gene on chromosome 11q. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=11577372 A cataract that has_material_basis_in heterozygous mutation in the MIP gene on chromosome 12q13. ICD10CM:Q12.0 OMIM:615274 CTRCT15 DOID:0110251 cataract 15 multiple types A cataract that has_material_basis_in heterozygous mutation in the MIP gene on chromosome 12q13. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=10802646 A cataract that has_material_basis_in variation in the region 12q24.2-q24.3. ICD10CM:Q12.0 OMIM:614422 CTRCT37 CCA5 congenital cataract cerulean type 5 DOID:0110252 cataract 37 A cataract that has_material_basis_in variation in the region 12q24.2-q24.3. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=21731060 A cataract that has material basis in heterozygous mutation in the gene encoding gap junction protein alpha-3 (GJA3) on chromosome 13q12. ICD10CM:Q12.0 OMIM:601885 CTRCT14 CAE3 CZP3 zonular pulverulent cataract 3 DOID:0110253 cataract 14 multiple types A cataract that has material basis in heterozygous mutation in the gene encoding gap junction protein alpha-3 (GJA3) on chromosome 13q12. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=9199569 A cataract that has_material_basis_in variation in the region 15q21-q22. ICD10CM:Q12.0 OMIM:605728 ORDO:98985 CCSSO CTRCT25 central pouch-like cataract with sutural opacities central saccular cataract with sutural opacities early-onset cataract with Y-shaped suture opacities DOID:0110254 cataract 25 A cataract that has_material_basis_in variation in the region 15q21-q22. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=11133359 A cataract that has_material_basis_in heterozygous mutation in the gene that encodes heat-shock transcription factor-4 (HSF4) on chromosome 16q22. ICD10CM:Q12.0 OMIM:116800 CTRCT5 DOID:0110255 cataract 5 multiple types A cataract that has_material_basis_in heterozygous mutation in the gene that encodes heat-shock transcription factor-4 (HSF4) on chromosome 16q22. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=12089525 A cataract that has_material_basis_in heterozygous mutation in the MAF gene on chromosome 16q23. ICD10CM:Q12.0 OMIM:610202 CTRCT21 cataract 21 multiple types with or without microcornea CCA4 congenital cataract Cerulean type 4 DOID:0110256 cataract 21 multiple types A cataract that has_material_basis_in heterozygous mutation in the MAF gene on chromosome 16q23. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=11772997 A cataract that has_material_basis_in variation in the region 17p13. ICD10CM:Q12.0 OMIM:601202 CTRCT24 CTAA2 anterior polar cataract 2 anterior polar cataract 24 DOID:0110257 cataract 24 A cataract that has_material_basis_in variation in the region 17p13. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=8852669 A cataract that has_material_basis_in heterozygous mutation in the CRYBA1 gene on chromosome 17q11. ICD10CM:Q12.0 OMIM:600881 CTRCT10 CCZS congenital zonular cataract with sutural opacities DOID:0110258 cataract 10 multiple types A cataract that has_material_basis_in heterozygous mutation in the CRYBA1 gene on chromosome 17q11. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=7573044 A cataract that has_material_basis_in heterozygous mutation in the UNC45B gene on chromosome 17q12. ICD10CM:Q12.0 OMIM:616279 CTRCT43 DOID:0110259 cataract 43 A cataract that has_material_basis_in heterozygous mutation in the UNC45B gene on chromosome 17q12. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=24549050 A cataract that has_material_basis_in variation in the region 17q24. ICD10CM:Q12.0 OMIM:115660 CTRCT7 CCA1 Cerulean type cataract 7 congenital Cerulean type cataract 1 DOID:0110260 cataract 7 A cataract that has_material_basis_in variation in the region 17q24. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=7704021 A cataract that has_material_basis_in variation in the region 19q13. ICD10CM:Q12.0 OMIM:609376 CATCN1 CTRCT35 autosomal recessive congenital nuclear cataract 1 cataract 35, congenital nuclear DOID:0110261 cataract 35 A cataract that has_material_basis_in variation in the region 19q13. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=15671291 A cataract that has_material_basis_in homozygous mutation in the SIPA1L3 gene on chromosome 19q13. ICD10CM:Q12.0 OMIM:616851 CTRCT45 DOID:0110262 cataract 45 A cataract that has_material_basis_in homozygous mutation in the SIPA1L3 gene on chromosome 19q13. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=25804400 A cataract that has_material_basis_in homozygous mutation in the LIM2 gene on chromosome 19q13. ICD10CM:Q12.0 OMIM:615277 CTRCT19 DOID:0110263 cataract 19 multiple types A cataract that has_material_basis_in homozygous mutation in the LIM2 gene on chromosome 19q13. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=11917274 A cataract that has_material_basis_in homozygous mutation in the beaded filament structural protein-1 gene (BFSP1) on chromosome 20p12. ICD10CM:Q12.0 OMIM:611391 CTRCT33 cortical cataract 33 DOID:0110264 cataract 33 A cataract that has_material_basis_in homozygous mutation in the beaded filament structural protein-1 gene (BFSP1) on chromosome 20p12. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=17225135 A cataract that has_material_basis_in heterozygous mutation in the CHMP4B gene on chromosome 20q11. ICD10CM:Q12.0 OMIM:605387 CTRCT31 CPP3 CTPP3 posterior polar cataract 3 DOID:0110265 cataract 31 multiple types A cataract that has_material_basis_in heterozygous mutation in the CHMP4B gene on chromosome 20q11. url:https://www.ncbi.nlm.nih.gov/pubmed/17701905 A cataract that has_material_basis_in heterozygous or homozygous mutation in the CRYAA gene, which encodes alpha-A-crystallin, on chromosome 21q22. ICD10CM:Q12.0 OMIM:604219 CTRCT9 cataract 9 multiple types with or without microcornea CATC1 autosomal recessive congenital cataract 1 DOID:0110266 cataract 9 multiple types A cataract that has_material_basis_in homozygous mutation in the LSS gene on chromosome 21q22. ICD10CM:Q12.0 OMIM:616509 ORDO:98994 CTRCT44 total early-onset cataract DOID:0110267 cataract 44 A cataract that has_material_basis_in homozygous mutation in the LSS gene on chromosome 21q22. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=26200341 A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B3 crystallin gene (CRYBB3) on chromosome 22q11. ICD10CM:Q12.0 OMIM:609741 CTRCT22 CATCN2 autosomal recessive congenital nuclear cataract 2 DOID:0110268 cataract 22 multiple types A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B3 crystallin gene (CRYBB3) on chromosome 22q11. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=15914629 A cataract that has_material_basis_in heterozygous mutation in the beta-B2-crystallin gene (CRYBB2) on chromosome 22q11. ICD10CM:Q12.0 OMIM:601547 CTRCT3 cataract 3 multiple types with or without microcornea CCA2 congenital Cerulean type cataract 2 DOID:0110269 cataract 3 multiple types A cataract that has_material_basis_in heterozygous mutation in the beta-B2-crystallin gene (CRYBB2) on chromosome 22q11. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=9158139 A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B1 crystallin gene (CRYBB1) on chromosome 22q12. ICD10CM:Q12.0 OMIM:611544 CTRCT17 CATCN3 autosomal recessive congenital nuclear cataract 3 DOID:0110270 cataract 17 multiple types A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B1 crystallin gene (CRYBB1) on chromosome 22q12. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=12360425 A cataract that has_material_basis_in heterozygous mutation in the crystallin beta-A4 gene (CRYBA4) on chromosome 22q12. ICD10CM:Q12.0 OMIM:610425 CTRCT23 lamellar cataract 23 DOID:0110271 cataract 23 A cataract that has_material_basis_in heterozygous mutation in the crystallin beta-A4 gene (CRYBA4) on chromosome 22q12. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=16960806 A cataract that has_material_basis_in mutation in the NHS gene on chromosome Xp22. ICD10CM:Q12.0 OMIM:302200 CTRCT40 cataract 40 X-linked cataract 40 with or without microcornea DOID:0110272 cataract 40 A cataract that has_material_basis_in mutation in the NHS gene on chromosome Xp22. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=15370543 A limb-girdle muscular dystrophy that has_material_basis_in autosomal dominant inheritance. ICD10CM:G71.0 OMIM:PS159000 ORDO:102014 DOID:0110273 autosomal dominant limb-girdle muscular dystrophy A limb-girdle muscular dystrophy that has_material_basis_in autosomal dominant inheritance. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=3275904 A limb-girdle muscular dystrophy has_material_basis_in autosomal recessive inheritance. ICD10CM:G71.0 OMIM:PS253600 ORDO:102015 DOID:0110274 autosomal recessive limb-girdle muscular dystrophy A limb-girdle muscular dystrophy has_material_basis_in autosomal recessive inheritance. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=13810212 An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the proteolytic enzyme calpain-3 (CAPN3) on chromosome 15q15. ICD10CM:G71.0 OMIM:253600 ORDO:267 LGMD2A Leyden-Moebius muscular dystrophy limb-girdle muscular dystrophy due to calpain deficiency muscular dystrophy, limb-girdle, type 2A pelvofemoral muscular dystrophy primary calpainopathy DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the proteolytic enzyme calpain-3 (CAPN3) on chromosome 15q15. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=7720071 An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the skeletal muscle protein dysferlin (DYSF) on chromosome 2p13. ICD10CM:G71.0 OMIM:253601 ORDO:268 LGMD2B LGMD3 limb-girdle muscular dystrophy due to dysferlin deficiency limb-girdle muscular dystrophy type 3 DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the skeletal muscle protein dysferlin (DYSF) on chromosome 2p13. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=9731527 An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gamma-sarcoglycan gene (SGCG) on chromosome 13q12. ICD10CM:G71.0 OMIM:253700 ORDO:353 DMDA1 LGMD2C Maghrebian myopathy SCARMD autosomal recessive Duchenne-like muscular dystrophy type 1 deficiency of sarcoglycan gamma gamma-sarcoglycanopathy limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency muscular dystrophy, limb-girdle, type 2C severe childhood autosomal recessive muscular dystrophy North African type DOID:0110277 autosomal recessive limb-girdle muscular dystrophy type 2C An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gamma-sarcoglycan gene (SGCG) on chromosome 13q12. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=7481775 An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the alpha-sarcoglycan gene (SGCA; 600119) on chromosome 17q. ICD10CM:G71.0 OMIM:608099 ORDO:62 Alpha-sarcoglycanopathy DMDA2 Duchenne-like autosomal recessive muscular dystrophy type 2 LGMD2D muscular dystrophy, limb-girdle, type 2D primary adhalinopathy DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-sarcoglycan (SGCB) on chromosome 4q12. ICD10CM:G71.0 OMIM:604286 ORDO:119 Beta-sarcoglycanopathy LGMD2E Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency muscular dystrophy, limb-girdle, type 2E DOID:0110279 autosomal recessive limb-girdle muscular dystrophy type 2E An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-sarcoglycan (SGCB) on chromosome 4q12. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=7581448 An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the sarcoglycan-delta gene (SGCD). ICD10CM:G71.0 OMIM:601287 ORDO:219 LGMD2F delta-sarcoglycanopathy limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency DOID:0110280 autosomal recessive limb-girdle muscular dystrophy type 2F An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the sarcoglycan-delta gene (SGCD). url:http://www.ncbi.nlm.nih.gov/pubmed/?term=8841194 An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding telethonin (TCAP). ICD10CM:G71.0 OMIM:601954 ORDO:34514 LGMD2G limb-girdle muscular dystrophy due to telethonin deficiency muscular dystrophy, limb-girdle, type 2G DOID:0110281 autosomal recessive limb-girdle muscular dystrophy type 2G An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding telethonin (TCAP). url:http://www.ncbi.nlm.nih.gov/pubmed/?term=10655062 An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding tripartite motif-containing protein-32 (TRIM32) on chromosome 9q. ICD10CM:G71.0 OMIM:254110 ORDO:1878 LGMD2H limb-girdle muscular dystrophy due to TRIM32 deficiency muscular dystrophy Hutterite type sarcotubular myopathy DOID:0110282 autosomal recessive limb-girdle muscular dystrophy type 2H An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding tripartite motif-containing protein-32 (TRIM32) on chromosome 9q. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=11822024 An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the titin gene (TTN). ICD10CM:G71.0 OMIM:608807 ORDO:140922 LGMD2J muscular dystrophy, limb-girdle, type 2J DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the titin gene (TTN). url:http://www.ncbi.nlm.nih.gov/pubmed/?term=12145747 An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ANO5 gene on chromosome 11p14. ICD10CM:G71.0 OMIM:611307 ORDO:206549 LGMD2L muscular dystrophy, limb-girdle, type 2L DOID:0110284 autosomal recessive limb-girdle muscular dystrophy type 2L An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ANO5 gene on chromosome 11p14. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=20096397 An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the PLEC1 gene. ICD10CM:G71.0 OMIM:613723 ORDO:254361 LGMD2Q autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency muscular dystrophy, limb-girdle, type 2Q DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the PLEC1 gene. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=21109228 An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the DES gene on chromosome 2q35. ICD10CM:G71.0 OMIM:615325 ORDO:363543 LGMD2R autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency muscular dystrophy, limb-girdle, type 2R DOID:0110286 autosomal recessive limb-girdle muscular dystrophy type 2R An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the DES gene on chromosome 2q35. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=23687351 An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TRAPPC11 gene on chromosome 4q35. ICD10CM:G71.0 OMIM:615356 ORDO:369840 LGMD2S muscular dystrophy, limb-girdle, type 2S DOID:0110287 autosomal recessive limb-girdle muscular dystrophy type 2S An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TRAPPC11 gene on chromosome 4q35. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=23830518 An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in compound heterozygous mutation in the LIMS2 gene on chromosome 2q14. OMIM:616827 ORDO:466801 LGMD2W muscular dystrophy, limb-girdle, type 2W DOID:0110288 autosomal recessive limb-girdle muscular dystrophy type 2W An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TOR1AIP1 gene on chromosome 1q24. ICD10CM:G71.0 OMIM:617072 ORDO:424261 LGMD2Y autosomal recessive muscular dystrophy due to LAP1B deficiency autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency muscular dystrophy with progressive weakness, distal contractures and rigid spine muscular dystrophy, limb-girdle, type 2Y DOID:0110289 autosomal recessive limb-girdle muscular dystrophy type 2Y An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TOR1AIP1 gene on chromosome 1q24. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=24856141 An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the BVES gene on chromosome 6q21. OMIM:616812 ORDO:476084 LGMD2X muscular dystrophy, limb-girdle, type 2X DOID:0110290 autosomal recessive limb-girdle muscular dystrophy type 2X An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the BVES gene on chromosome 6q21. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=26642364 A Leber congenital amaurosis that is characterized by severe infantile-onset cone-rod dystrophy with high hyperopia and severe ERG abnormalities and has_material_basis_in mutation in the CEP290 gene on chromosome 12q21.32. ICD10CM:H35.5 OMIM:611755 LCA10 DOID:0110291 Leber congenital amaurosis 10 A Leber congenital amaurosis that is characterized by severe infantile-onset cone-rod dystrophy with high hyperopia and severe ERG abnormalities and has_material_basis_in mutation in the CEP290 gene on chromosome 12q21.32. https://www.ncbi.nlm.nih.gov/pubmed/16909394 An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34. ICD10CM:G71.0 OMIM:613157 ORDO:206564 LGMD2O MDDGC3 muscular dystrophy-dystroglycanopathy (limb-girdle) type C3 muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related DOID:0110292 autosomal recessive limb-girdle muscular dystrophy type 2O An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=18195152 An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding alpha-dystroglycan (DAG1) on chromosome 3p21. ICD10CM:G71.0 OMIM:613818 ORDO:280333 LGMD2P MDDGC9 muscular dystrophy-dystroglycanopathy (limb-girdle) type C9 muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related DOID:0110293 autosomal recessive limb-girdle muscular dystrophy type 2P An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding alpha-dystroglycan (DAG1) on chromosome 3p21. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=21388311 An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene encoding the beta subunit of GDP-mannose pyrophosphorylase on chromosome 3p21. ICD10CM:G71.0 OMIM:615352 ORDO:363623 LGMD2T MDDGC14 muscular dystrophy limb-girdle type 2T muscular dystrophy-dystroglycanopathy (limb-girdle) type C14 muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related DOID:0110294 autosomal recessive limb-girdle muscular dystrophy type 2T An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene encoding the beta subunit of GDP-mannose pyrophosphorylase on chromosome 3p21. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=23768512 An autosomal recessive limb-girdle muscular dystrophy that hhas_material_basis_in homozygous mutation in the ISPD gene on chromosome 7p21. ICD10CM:G71.0 OMIM:616052 ORDO:352479 LGMD2U MDDGC7 autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency muscular dystrophy limb-girdle type 2U muscular dystrophy-dystroglycanopathy (limb-girdle) type C7 DOID:0110295 autosomal recessive limb-girdle muscular dystrophy type 2U An autosomal recessive limb-girdle muscular dystrophy that hhas_material_basis_in homozygous mutation in the ISPD gene on chromosome 7p21. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=23390185 An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin (FKTN) on chromosome 9q31. ICD10CM:G71.0 OMIM:611588 ORDO:206554 LGMD2M MDDGC4 muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4 DOID:0110296 autosomal recessive limb-girdle muscular dystrophy type 2M An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin (FKTN) on chromosome 9q31. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=17044012 An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1). ICD10CM:G71.0 OMIM:609308 ORDO:86812 LGMD2K MDDGC1 limb-girdle muscular dystrophy-intellectual disability syndrome muscular dystrophy limb-girdle type 2K muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1 DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1). url:http://www.ncbi.nlm.nih.gov/pubmed/?term=15792865 An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3. ICD10CM:G71.0 OMIM:613158 ORDO:206559 LGMD2N MDDGC2 muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2 muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related DOID:0110298 autosomal recessive limb-girdle muscular dystrophy type 2N An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=17878207 An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin-related protein (FKRP) on chromosome 19q13.3. ICD10CM:G71.0 OMIM:607155 ORDO:34515 LGMD2I Limb-girdle muscular dystrophy due to FKRP deficiency MDDGC5 muscular dystrophy limb-girdle type 2I muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5 muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin-related protein (FKRP) on chromosome 19q13.3. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=11592034 An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the gene encoding myotilin (MYOT1) on chromosome 5q31. ICD10CM:G71.0 OMIM:159000 ORDO:266 LGMD1A limb-girdle muscular dystrophy due to myotilin deficiency muscular dystrophy limb-girdle type 1A proximal muscular dystrophy type 1A DOID:0110300 autosomal dominant limb-girdle muscular dystrophy type 1A An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the gene encoding myotilin (MYOT1) on chromosome 5q31. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=10958653 An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding lamin A/C (LMNA). ICD10CM:G71.0 OMIM:159001 ORDO:264 LGMD1B Limb-girdle muscular dystrophy due to lamin A/C deficiency muscular dystrophy, limb-girdle type 1B proximal muscular dystrophy type 1B DOID:0110301 autosomal dominant limb-girdle muscular dystrophy type 1B An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding lamin A/C (LMNA). url:http://www.ncbi.nlm.nih.gov/pubmed/?term=10814726 An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in mutation in the caveolin-3 gene (CAV3) on chromosome 3p25. ICD10CM:G71.0 OMIM:607801 ORDO:265 LGMD1C limb-girdle muscular dystrophy due to caveolin-3 deficiency muscular dystrophy limb-girdle type IC DOID:0110302 autosomal dominant limb-girdle muscular dystrophy type 1C An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in mutation in the caveolin-3 gene (CAV3) on chromosome 3p25. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=9537420 An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in with variation in the region 3p25.1-p23. ICD10CM:G71.0 OMIM:613530 ORDO:238755 LGMD1H muscular dystrophy limb-girdle type 1H DOID:0110303 autosomal dominant limb-girdle muscular dystrophy type 1H An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in with variation in the region 3p25.1-p23. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=20068593 An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the TNPO3 gene on chromosome 7q32. ICD10CM:G71.0 OMIM:608423 ORDO:55595 LGMD1F muscular dystrophy limb-girdle type 1F DOID:0110304 autosomal dominant limb-girdle muscular dystrophy type 1F An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the TNPO3 gene on chromosome 7q32. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=23543484 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=23667635 An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the DNAJB6 gene on chromosome 7q36. ICD10CM:G71.0 OMIM:603511 ORDO:34516 LGMD1D muscular dystrophy limb-girdle type 1D muscular dystrophy limb-girdle type 1E DOID:0110305 autosomal dominant limb-girdle muscular dystrophy type 1E An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the DNAJB6 gene on chromosome 7q36. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=22334415 An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the HNRNPDL gene on chromosome 4q21. ICD10CM:G71.0 OMIM:609115 ORDO:55596 LGMD1G muscular dystrophy limb-girdle type 1G DOID:0110306 autosomal dominant limb-girdle muscular dystrophy type 1G An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the HNRNPDL gene on chromosome 4q21. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=24647604 A hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYH7 gene on chromosome 14q12. OMIM:192600 CMH1 cardiomyopathy, familial hypertrophic 1 DOID:0110307 hypertrophic cardiomyopathy 1 A hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYH7 gene on chromosome 14q12. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=1975517 A hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the cardiac troponin-T2 gene (TNNT2). OMIM:115195 CMH2 cardiomyopathy familial hypertrophic 2 DOID:0110308 hypertrophic cardiomyopathy 2 A hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the cardiac troponin-T2 gene (TNNT2). url:http://www.ncbi.nlm.nih.gov/pubmed/?term=8205619 A hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the alpha-tropomyosin gene (TPM1) on chromosome 15q22. OMIM:115196 CMH3 cardiomyopathy familial hypertrophic 3 DOID:0110309 hypertrophic cardiomyopathy 3 A hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the alpha-tropomyosin gene (TPM1) on chromosome 15q22. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=8205619 A hypertrophic cardiomyopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding cardiac myosin-binding protein C (MYBPC3) on chromosome 11p11. OMIM:115197 CMH4 cardiomyopathy, familial hypertrophic, 4 DOID:0110310 hypertrophic cardiomyopathy 4 A hypertrophic cardiomyopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding cardiac myosin-binding protein C (MYBPC3) on chromosome 11p11. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=7493025 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=7493026 A hypertrophic cardiomyopathy associated that has_material_basis_in region 7p12.1-q21 variation. OMIM:614676 CMH21 cardiomyopathy familial hypertrophic 21 DOID:0110311 hypertrophic cardiomyopathy 21 A hypertrophic cardiomyopathy associated that has_material_basis_in region 7p12.1-q21 variation. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=16651466 A hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the gene encoding the gamma-2 regulatory subunit of AMP-activated protein kinase (PRKAG2). OMIM:600858 CMH6 cardiomyopathy, familial hypertrophic 6 DOID:0110312 hypertrophic cardiomyopathy 6 A hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the gene encoding the gamma-2 regulatory subunit of AMP-activated protein kinase (PRKAG2). url:http://www.ncbi.nlm.nih.gov/pubmed/?term=11586962 A hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNI3 gene on chromosome 19q13.4. OMIM:613690 CMH7 cardiomyopathy, familial hypertrophic 7 DOID:0110313 hypertrophic cardiomyopathy 7 A hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNI3 gene on chromosome 19q13.4. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=9241277 A hypertrophic cardiomyopathy that has_material_basis_in homozygous or heterozygous mutation in the MYL3 gene. OMIM:608751 cardiomyopathy hypertrophic mid-left ventricular chamber type 1 cardiomyopathy, familial hypertrophic, 8 DOID:0110314 hypertrophic cardiomyopathy 8 A hypertrophic cardiomyopathy that has_material_basis_in homozygous or heterozygous mutation in the MYL3 gene. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=8673105 A hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31. OMIM:613765 CMH9 cardiomyopathy, familial hypertrophic, 9 DOID:0110315 hypertrophic cardiomyopathy 9 A hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=10462489 A hypertrophic cardiomyopathy that has_material_basis_in mutation in the MYL2 gene. OMIM:608758 CMH10 cardiomyopathy, familial hypertrophic, 10 DOID:0110316 hypertrophic cardiomyopathy 10 A hypertrophic cardiomyopathy that has_material_basis_in mutation in the MYL2 gene. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=8673105 A hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the ACTC1 gene on chromosome 15q14. OMIM:612098 CMH11 cardiomyopathy familial hypertrophic 11 DOID:0110317 hypertrophic cardiomyopathy 11 A hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the ACTC1 gene on chromosome 15q14. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=10330430 A hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the CSRP3 gene on chromosome 11p15. OMIM:612124 CMH12 cardiomyopathy familial hypertrophic 12 DOID:0110318 hypertrophic cardiomyopathy 12 A hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the CSRP3 gene on chromosome 11p15. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=12642359 A hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNC1 gene on chromosome 3p21. OMIM:613243 CMH13 cardiomyopathy familial hypertrophic 13 DOID:0110319 hypertrophic cardiomyopathy 13 A hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNC1 gene on chromosome 3p21. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=11385718 A hypertrophic cardiomyopathy that has_material_basis_in mutation in the MYH6 gene. OMIM:613251 CMH14 cardiomyopathy familial hypertrophic 14 DOID:0110320 hypertrophic cardiomyopathy 14 A hypertrophic cardiomyopathy that has_material_basis_in mutation in the MYH6 gene. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=11815426 A hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the vinculin gene (VCL) on chromosome 10q22. OMIM:613255 CMH15 cardiomyopathy familial hypertrophic 15 DOID:0110321 hypertrophic cardiomyopathy 15 A hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the vinculin gene (VCL) on chromosome 10q22. OMID:16712796 A hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYOZ2 gene on chromosome 4q26. OMIM:613838 CMH16 cardiomyopathy familial hypertrophic 16 DOID:0110322 hypertrophic cardiomyopathy 16 A hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYOZ2 gene on chromosome 4q26. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=17347475 A hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the junctophilin gene (JPH2) on chromosome 20q12. OMIM:613873 CMH17 cardiomyopathy familial hypertrophic 17 DOID:0110323 hypertrophic cardiomyopathy 17 A hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the junctophilin gene (JPH2) on chromosome 20q12. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=17509612 A hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the gene encoding phospholamban (PLN) on chromosome 6q22.1. OMIM:613874 CMH18 cardiomyopathy familial hypertrophic 18 DOID:0110324 hypertrophic cardiomyopathy 18 A hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the gene encoding phospholamban (PLN) on chromosome 6q22.1. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=12705874 A hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the calreticulin gene (CALR3) on chromosome 19p13.11. OMIM:613875 CMH19 cardiomyopathy familial hypertrophic 19 DOID:0110325 hypertrophic cardiomyopathy 19 A hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the calreticulin gene (CALR3) on chromosome 19p13.11. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=17655857 A hypertrophic cardiomyopathy that hhas_material_basis_in heterozygous mutation in the NEXN gene on chromosome 1p31.1. OMIM:613876 CMH20 cardiomyopathy familial hypertrophic 20 DOID:0110326 hypertrophic cardiomyopathy 20 A hypertrophic cardiomyopathy that hhas_material_basis_in heterozygous mutation in the NEXN gene on chromosome 1p31.1. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=20970104 A hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32. OMIM:617047 CMH26 cardiomyopathy familial hypertrophic 26 DOID:0110327 hypertrophic cardiomyopathy 26 A hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=25351925 A hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TCAP gene on chromosome 17q12. OMIM:607487 CMH25 cardiomyopathy familial hypertrophic 25 DOID:0110328 hypertrophic cardiomyopathy 25 A hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TCAP gene on chromosome 17q12. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=15582318 A Leber congenital amaurosis that is characterized by early photophobia, hypermetropia less than +7 diopters, and visual acuity in the range of 20/400 to count fingers and has_material_basis_in mutation in the RPGRIP1 gene on chromosome 14q11. ICD10CM:H35.5 OMIM:613826 LCA6 DOID:0110329 Leber congenital amaurosis 6 A Leber congenital amaurosis that is characterized by early photophobia, hypermetropia less than +7 diopters, and visual acuity in the range of 20/400 to count fingers and has_material_basis_in mutation in the RPGRIP1 gene on chromosome 14q11. https://www.ncbi.nlm.nih.gov/pubmed/11283794 A Leber congenital amaurosis thatis characterized by mild or absent hyperopia, transient improvement of visual acuity, and eventual macular atrophy with severe disease progression and has_material_basis_in mutation in the RDH12 gene on chromosome 14q23.3. ICD10CM:H35.5 OMIM:612712 LCA13 DOID:0110330 Leber congenital amaurosis 13 A Leber congenital amaurosis thatis characterized by mild or absent hyperopia, transient improvement of visual acuity, and eventual macular atrophy with severe disease progression and has_material_basis_in mutation in the RDH12 gene on chromosome 14q23.3. https://www.ncbi.nlm.nih.gov/pubmed/15258582 A Leber congenital amaurosis that has_material_basis_in mutation in the SPATA7 gene on chromosome 14q31. ICD10CM:H35.5 OMIM:604232 LCA3 DOID:0110331 Leber congenital amaurosis 3 A Leber congenital amaurosis that has_material_basis_in mutation in the SPATA7 gene on chromosome 14q31. https://www.ncbi.nlm.nih.gov/pubmed/19268277 A Leber congenital amaurosis that is characterized by a relatively severe phenotype, with maculopathy and marked bone-spicule pigmentary retinopathy in most and keratoconus and cataract in a large subset and has_material_basis_in mutation in the AIPL1 gene on chromosome 17p13. ICD10CM:H35.5 OMIM:604393 LCA4 DOID:0110332 Leber congenital amaurosis 4 A Leber congenital amaurosis that is characterized by a relatively severe phenotype, with maculopathy and marked bone-spicule pigmentary retinopathy in most and keratoconus and cataract in a large subset and has_material_basis_in mutation in the AIPL1 gene on chromosome 17p13. https://www.ncbi.nlm.nih.gov/pubmed/10615133 A Leber congenital amaurosis that has_material_basis_in mutation in the CRX gene on chromosome 19q13. ICD10CM:H35.5 OMIM:613829 LCA7 DOID:0110333 Leber congenital amaurosis 7 A Leber congenital amaurosis that has_material_basis_in mutation in the CRX gene on chromosome 19q13. https://www.ncbi.nlm.nih.gov/pubmed/9537410 An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. ICD10CM:Q78.0 OMIM:166200 ORDO:216796 OI1 osteogenesis imperfecta type I DOID:0110334 osteogenesis imperfecta type 1 An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. https://www.ncbi.nlm.nih.gov/pubmed/2873381 An osteogenesis imperfecta found in a single South African family. ICD10CM:Q78.0 OMIM:166230 DOID:0110335 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures An osteogenesis imperfecta found in a single South African family. https://www.ncbi.nlm.nih.gov/pubmed/7241530 An osteogenesis imperfecta that has_material_basis_in mutation in the P3H1 gene on chromosome 1p34.2. ICD10CM:Q78.0 OMIM:610915 OI8 osteogenesis imperfecta type VIII osteogenesis imperfecta type 8 An osteogenesis imperfecta that has_material_basis_in mutation in the P3H1 gene on chromosome 1p34.2. https://www.ncbi.nlm.nih.gov/pubmed/17277775 An osteogenesis imperfecta that has_material_basis_in mutation in the CRTAP gene on chromosome 3p22. ICD10CM:Q78.0 OMIM:610682 OI7 osteogenesis imperfecta type VII DOID:0110337 osteogenesis imperfecta type 7 An osteogenesis imperfecta that has_material_basis_in mutation in the CRTAP gene on chromosome 3p22. https://www.ncbi.nlm.nih.gov/pubmed/17055431 An osteogenesis imperfecta that has_material_basis_in mutation in the SPARC gene on chromosome 5q33. ICD10CM:Q78.0 OMIM:616507 OI17 osteogenesis imperfecta type XVII DOID:0110338 osteogenesis imperfecta type 17 An osteogenesis imperfecta that has_material_basis_in mutation in the SPARC gene on chromosome 5q33. https://www.ncbi.nlm.nih.gov/pubmed/26027498 An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. ICD10CM:Q78.0 OMIM:259420 OI3 osteogenesis imperfecta type III progressively deforming osteogenesis imperfecta with normal sclera DOID:0110339 osteogenesis imperfecta type 3 An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. https://www.ncbi.nlm.nih.gov/pubmed/2794057 https://www.ncbi.nlm.nih.gov/pubmed/9099837 An osteogenesis imperfecta that is characterized by bone fragility and normal sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. ICD10CM:Q78.0 OMIM:166220 OI4 osteogenesis imperfecta type IV osteogenesis imperfecta with normal sclera DOID:0110340 osteogenesis imperfecta type 4 An osteogenesis imperfecta that is characterized by bone fragility and normal sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. https://www.ncbi.nlm.nih.gov/pubmed/2745420 https://www.ncbi.nlm.nih.gov/pubmed/2897363 An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. ICD10CM:Q78.0 OMIM:166210 OI2 Vrolik type of osteogenesis imperfecta osteogenesis imperfecta type II perinatal lethal osteogenesis imperfecta congenita DOID:0110341 osteogenesis imperfecta type 2 An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. https://www.ncbi.nlm.nih.gov/pubmed/3722184 https://www.ncbi.nlm.nih.gov/pubmed/6304100 An osteogenesis imperfecta that has_material_basis_in mutation in the BMP1 gene on chromosome 8p21. ICD10CM:Q78.0 OMIM:614856 OI13 osteogenesis imperfecta type XIII DOID:0110342 osteogenesis imperfecta type 13 An osteogenesis imperfecta that has_material_basis_in mutation in the BMP1 gene on chromosome 8p21. https://www.ncbi.nlm.nih.gov/pubmed/22052668 An osteogenesis imperfecta that has_material_basis_in mutation in the TMEM38B gene on chromosome 9q31. ICD10CM:Q78.0 OMIM:615066 OI14 osteogenesis imperfecta type XIV DOID:0110343 osteogenesis imperfecta type 14 An osteogenesis imperfecta that has_material_basis_in mutation in the TMEM38B gene on chromosome 9q31. https://www.ncbi.nlm.nih.gov/pubmed/23054245 An osteogenesis imperfecta that has_material_basis_in mutation in the IFITM5 gene on chromosome 11p15. ICD10CM:Q78.0 OMIM:610967 OI5 osteogenesis imperfecta type V DOID:0110344 osteogenesis imperfecta type 5 An osteogenesis imperfecta that has_material_basis_in mutation in the IFITM5 gene on chromosome 11p15. https://www.ncbi.nlm.nih.gov/pubmed/22863190 An osteogenesis imperfecta that has_material_basis_in contiguous gene deletion on chromosome 11p11. ICD10CM:Q78.0 OMIM:616229 OI16 chromosome 11p11.2 deletion syndrome 91.3-KB osteogenesis imperfecta type XVI DOID:0110345 osteogenesis imperfecta type 16 An osteogenesis imperfecta that has_material_basis_in contiguous gene deletion on chromosome 11p11. https://www.ncbi.nlm.nih.gov/pubmed/24079343 An osteogenesis imperfecta that has_material_basis_in mutation in the SERPINH gene on chromosome 11q13. ICD10CM:Q78.0 OMIM:613848 OI10 osteogenesis imperfecta type X DOID:0110346 osteogenesis imperfecta type 10 An osteogenesis imperfecta that has_material_basis_in mutation in the SERPINH gene on chromosome 11q13. https://www.ncbi.nlm.nih.gov/pubmed/20188343 An osteogenesis imperfecta that has_material_basis_in mutation in the WNT1 gene on chromosome 12q13. ICD10CM:Q78.0 OMIM:615220 OI15 osteogenesis imperfecta type XV DOID:0110347 osteogenesis imperfecta type 15 An osteogenesis imperfecta that has_material_basis_in mutation in the WNT1 gene on chromosome 12q13. https://www.ncbi.nlm.nih.gov/pubmed/23499309 An osteogenesis imperfecta that has_material_basis_in mutation in the SP7 gene on chromosome 12q13. ICD10CM:Q78.0 OMIM:613849 OI12 osteogenesis imperfecta type XII DOID:0110348 osteogenesis imperfecta type 12 An osteogenesis imperfecta that has_material_basis_in mutation in the SP7 gene on chromosome 12q13. https://www.ncbi.nlm.nih.gov/pubmed/20579626 An osteogenesis imperfecta that has_material_basis_in mutation in the PPIB gene on chromosome 15q22. ICD10CM:Q78.0 OMIM:259440 OI9 osteogenesis imperfecta type IX DOID:0110349 osteogenesis imperfecta type 9 An osteogenesis imperfecta that has_material_basis_in mutation in the PPIB gene on chromosome 15q22. https://www.ncbi.nlm.nih.gov/pubmed/19781681 An osteogenesis imperfecta that has_material_basis_in mutation in the SERPINF1 gene on chromosome 17p13.3. ICD10CM:Q78.0 OMIM:613982 OI6 osteogenesis imperfecta type VI DOID:0110350 osteogenesis imperfecta type 6 An osteogenesis imperfecta that has_material_basis_in mutation in the SERPINF1 gene on chromosome 17p13.3. https://www.ncbi.nlm.nih.gov/pubmed/21353196 An osteogenesis imperfecta that has_material_basis_in mutation in the FKBP10 gene on chromosome 17q21. ICD10CM:Q78.0 OMIM:610968 OI11 osteogenesis imperfecta type XI DOID:0110351 osteogenesis imperfecta type 11 An osteogenesis imperfecta that has_material_basis_in mutation in the FKBP10 gene on chromosome 17q21. https://www.ncbi.nlm.nih.gov/pubmed/20362275 A retinitis pigmentosa that has_material_basis_in mutation in the DHDDS gene on chromosome 1p36.11. ICD10CM:H35.5 OMIM:613861 RP59 DOID:0110352 retinitis pigmentosa 59 A retinitis pigmentosa that has_material_basis_in mutation in the DHDDS gene on chromosome 1p36.11. https://www.ncbi.nlm.nih.gov/pubmed/21295283 A retinitis pigmentosa that has_material_basis_in mutation in the RPE65 gene on chromosome 1p31. ICD10CM:H35.5 OMIM:613794 RP20 DOID:0110353 retinitis pigmentosa 20 A retinitis pigmentosa that has_material_basis_in mutation in the RPE65 gene on chromosome 1p31. https://www.ncbi.nlm.nih.gov/pubmed/9326941 A retinitis pigmentosa that has_material_basis_in mutation in the ABCA4 gene on chromosome 1p22. ICD10CM:H35.5 OMIM:601718 RP19 DOID:0110354 retinitis pigmentosa 19 A retinitis pigmentosa that has_material_basis_in mutation in the ABCA4 gene on chromosome 1p22. https://www.ncbi.nlm.nih.gov/pubmed/9425888 A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 1p21.3-p13.3. ICD10CM:H35.5 OMIM:609913 RP32 DOID:0110355 retinitis pigmentosa 32 A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 1p21.3-p13.3. https://www.ncbi.nlm.nih.gov/pubmed/16189710 A retinitis pigmentosa that has_material_basis_in mutation in the PRPF3 gene on chromosome 1q21. ICD10CM:H35.5 OMIM:601414 RP18 DOID:0110356 retinitis pigmentosa 18 A retinitis pigmentosa that has_material_basis_in mutation in the PRPF3 gene on chromosome 1q21. https://www.ncbi.nlm.nih.gov/pubmed/11773002 A retinitis pigmentosa that has_material_basis_in mutation in the SEMA4A gene on chromosome 1q22. ICD10CM:H35.5 OMIM:610282 RP35 DOID:0110357 retinitis pigmentosa 35 A retinitis pigmentosa that has_material_basis_in mutation in the SEMA4A gene on chromosome 1q22. https://www.ncbi.nlm.nih.gov/pubmed/16199541 A retinitis pigmentosa that has_material_basis_in mutation in the CRB1 gene on chromosome 1q31.3. ICD10CM:H35.5 OMIM:600105 RP12 DOID:0110358 retinitis pigmentosa 12 A retinitis pigmentosa that has_material_basis_in mutation in the CRB1 gene on chromosome 1q31.3. https://www.ncbi.nlm.nih.gov/pubmed/10508521 A retinitis pigmentosa that has_material_basis_in mutation in the NEK2 gene on chromosome 1q32. ICD10CM:H35.5 OMIM:615565 RP67 DOID:0110359 retinitis pigmentosa 67 A retinitis pigmentosa that has_material_basis_in mutation in the NEK2 gene on chromosome 1q32. https://www.ncbi.nlm.nih.gov/pubmed/24043777 A retinitis pigmentosa that has_material_basis_in mutation in the USH2A gene on chromosome 1q41. ICD10CM:H35.5 OMIM:613809 RP39 DOID:0110360 retinitis pigmentosa 39 A retinitis pigmentosa that has_material_basis_in mutation in the USH2A gene on chromosome 1q41. https://www.ncbi.nlm.nih.gov/pubmed/12427073 A retinitis pigmentosa that has_material_basis_in mutation in the AGBL5 gene on chromosome 2p23. ICD10CM:H35.5 OMIM:617023 RP75 DOID:0110361 retinitis pigmentosa 75 A retinitis pigmentosa that has_material_basis_in mutation in the AGBL5 gene on chromosome 2p23. https://www.ncbi.nlm.nih.gov/pubmed/26720455 A retinitis pigmentosa that has_material_basis_in mutation in the ZNF513 gene on chromosome 2p23. ICD10CM:H35.5 OMIM:613617 RP58 DOID:0110362 retinitis pigmentosa 58 A retinitis pigmentosa that has_material_basis_in mutation in the ZNF513 gene on chromosome 2p23. https://www.ncbi.nlm.nih.gov/pubmed/20227676 A retinitis pigmentosa that has_material_basis_in mutation in the IFT172 gene on chromosome 2p23. ICD10CM:H35.5 OMIM:616394 RP71 DOID:0110363 retinitis pigmentosa 71 A retinitis pigmentosa that has_material_basis_in mutation in the IFT172 gene on chromosome 2p23. https://www.ncbi.nlm.nih.gov/pubmed/25168386 A retinitis pigmentosa that has_material_basis_in mutation in the C2ORF71 gene on chromosome 2p23. ICD10CM:H35.5 OMIM:613428 RP54 DOID:0110364 retinitis pigmentosa 54 A retinitis pigmentosa that has_material_basis_in mutation in the C2ORF71 gene on chromosome 2p23. https://www.ncbi.nlm.nih.gov/pubmed/20398886 A retinitis pigmentosa that has_material_basis_in mutation in the FAM161A gene on chromosome 2p15. ICD10CM:H35.5 OMIM:606068 RP28 DOID:0110365 retinitis pigmentosa 28 A retinitis pigmentosa that has_material_basis_in mutation in the FAM161A gene on chromosome 2p15. https://www.ncbi.nlm.nih.gov/pubmed/20705278 A retinitis pigmentosa that has_material_basis_in mutation in the SNRNP200 gene on chromosome 2q11. ICD10CM:H35.5 OMIM:610359 RP33 DOID:0110366 retinitis pigmentosa 33 A retinitis pigmentosa that has_material_basis_in mutation in the SNRNP200 gene on chromosome 2q11. https://www.ncbi.nlm.nih.gov/pubmed/19878916 A retinitis pigmentosa that has_material_basis_in mutation in the MERTK gene on chromosome 2q13. ICD10CM:H35.5 OMIM:613862 RP38 DOID:0110367 retinitis pigmentosa 38 A retinitis pigmentosa that has_material_basis_in mutation in the MERTK gene on chromosome 2q13. https://www.ncbi.nlm.nih.gov/pubmed/11062461 A retinitis pigmentosa that has_material_basis_in mutation in the CERKL gene on chromosome 2q31. ICD10CM:H35.5 OMIM:608380 RP26 DOID:0110368 retinitis pigmentosa 26 A retinitis pigmentosa that has_material_basis_in mutation in the CERKL gene on chromosome 2q31. https://www.ncbi.nlm.nih.gov/pubmed/14681825 A retinitis pigmentosa that has_material_basis_in mutation in the SAG gene on chromosome 2q37. ICD10CM:H35.5 OMIM:613758 RP47 DOID:0110369 retinitis pigmentosa 47 A retinitis pigmentosa that has_material_basis_in mutation in the SAG gene on chromosome 2q37. https://www.ncbi.nlm.nih.gov/pubmed/9565049 A retinitis pigmentosa that has_material_basis_in mutation in the ARL6 gene on chromosome 3q11.2. ICD10CM:H35.5 OMIM:613575 RP55 DOID:0110370 retinitis pigmentosa 55 A retinitis pigmentosa that has_material_basis_in mutation in the ARL6 gene on chromosome 3q11.2. https://www.ncbi.nlm.nih.gov/pubmed/19956407 A retinitis pigmentosa that has_material_basis_in mutation in the IMPG2 gene on chromosome 3q12.3. ICD10CM:H35.5 OMIM:613581 RP56 DOID:0110371 retinitis pigmentosa 56 A retinitis pigmentosa that has_material_basis_in mutation in the IMPG2 gene on chromosome 3q12.3. https://www.ncbi.nlm.nih.gov/pubmed/20673862 A retinitis pigmentosa that has_material_basis_in mutation in the RHO gene on chromosome 3q22. ICD10CM:H35.5 OMIM:613731 RP4 DOID:0110372 retinitis pigmentosa 4 A retinitis pigmentosa that has_material_basis_in mutation in the RHO gene on chromosome 3q22. https://www.ncbi.nlm.nih.gov/pubmed/2137202 A retinitis pigmentosa that has_material_basis_in mutation in the CLRN1 gene on chromosome 3q25. ICD10CM:H35.5 OMIM:614180 RP61 DOID:0110373 retinitis pigmentosa 61 A retinitis pigmentosa that has_material_basis_in mutation in the CLRN1 gene on chromosome 3q25. https://www.ncbi.nlm.nih.gov/pubmed/21310491 A retinitis pigmentosa that has_material_basis_in mutation in the SLC7A14 gene on chromosome 3q26. ICD10CM:H35.5 OMIM:615725 RP68 DOID:0110374 retinitis pigmentosa 68 A retinitis pigmentosa that has_material_basis_in mutation in the SLC7A14 gene on chromosome 3q26. https://www.ncbi.nlm.nih.gov/pubmed/24670872 A retinitis pigmentosa that has_material_basis_in mutation in the PDE6B gene on chromosome 4p16. ICD10CM:H35.5 OMIM:613801 RP40 DOID:0110375 retinitis pigmentosa 40 A retinitis pigmentosa that has_material_basis_in mutation in the PDE6B gene on chromosome 4p16. https://www.ncbi.nlm.nih.gov/pubmed/8394174 A retinitis pigmentosa that has_material_basis_in mutation in the PROM1 gene on chromosome 4p15. ICD10CM:H35.5 OMIM:612095 RP41 DOID:0110376 retinitis pigmentosa 41 A retinitis pigmentosa that has_material_basis_in mutation in the PROM1 gene on chromosome 4p15. https://www.ncbi.nlm.nih.gov/pubmed/10587575 A retinitis pigmentosa that has_material_basis_in mutation in the CNGA1 gene on chromosome 4p12. ICD10CM:H35.5 OMIM:613756 RP49 DOID:0110377 retinitis pigmentosa 49 A retinitis pigmentosa that has_material_basis_in mutation in the CNGA1 gene on chromosome 4p12. https://www.ncbi.nlm.nih.gov/pubmed/7479749 A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 4q32-q34. ICD10CM:H35.5 OMIM:612165 RP29 DOID:0110378 retinitis pigmentosa 29 A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 4q32-q34. https://www.ncbi.nlm.nih.gov/pubmed/11381043 A retinitis pigmentosa that has_material_basis_in mutation in the PDE6A gene on chromosome 5q31-q33. ICD10CM:H35.5 OMIM:613810 RP43 DOID:0110379 retinitis pigmentosa 43 A retinitis pigmentosa that has_material_basis_in mutation in the PDE6A gene on chromosome 5q31-q33. https://www.ncbi.nlm.nih.gov/pubmed/7493036 A retinitis pigmentosa that has_material_basis_in mutation in the MAK gene on chromosome 6p24.2. ICD10CM:H35.5 OMIM:614181 RP62 DOID:0110380 retinitis pigmentosa 62 A retinitis pigmentosa that has_material_basis_in mutation in the MAK gene on chromosome 6p24.2. https://www.ncbi.nlm.nih.gov/pubmed/21825139 A retinitis pigmentosa that has_material_basis_in mutation in the TULP1 gene on chromosome 6p21. ICD10CM:H35.5 OMIM:600132 RP14 DOID:0110381 retinitis pigmentosa 14 A retinitis pigmentosa that has_material_basis_in mutation in the TULP1 gene on chromosome 6p21. https://www.ncbi.nlm.nih.gov/pubmed/9462751 A retinitis pigmentosa that has_material_basis_in mutation in the GUCA1B gene on chromosome 6p21.1. ICD10CM:H35.5 OMIM:613827 RP48 DOID:0110382 retinitis pigmentosa 48 A retinitis pigmentosa that has_material_basis_in mutation in the GUCA1B gene on chromosome 6p21.1. https://www.ncbi.nlm.nih.gov/pubmed/15452722 A retinitis pigmentosa that has_material_basis_in mutation in the PRPH2 gene on chromosome 6p21. ICD10CM:H35.5 OMIM:608133 RP7 DOID:0110383 retinitis pigmentosa 7 A retinitis pigmentosa that has_material_basis_in mutation in the PRPH2 gene on chromosome 6p21. https://www.ncbi.nlm.nih.gov/pubmed/1749427 A retinitis pigmentosa that has_material_basis_in mutation in the EYS gene on chromosome 6q12. ICD10CM:H35.5 OMIM:602772 RP25 DOID:0110384 retinitis pigmentosa 25 A retinitis pigmentosa that has_material_basis_in mutation in the EYS gene on chromosome 6q12. https://www.ncbi.nlm.nih.gov/pubmed/18836446 A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 6q23. ICD10CM:H35.5 OMIM:614494 RP63 DOID:0110385 retinitis pigmentosa 63 A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 6q23. https://www.ncbi.nlm.nih.gov/pubmed/22083234 A retinitis pigmentosa that has_material_basis_in mutation in the KLHL7 gene on chromosome 7p15.3. ICD10CM:H35.5 OMIM:612943 RP42 DOID:0110386 retinitis pigmentosa 42 A retinitis pigmentosa that has_material_basis_in mutation in the KLHL7 gene on chromosome 7p15.3. https://www.ncbi.nlm.nih.gov/pubmed/19520207 A retinitis pigmentosa that has_material_basis_in mutation in the RP9 gene on chromosome 7p14. ICD10CM:H35.5 OMIM:180104 RP9 DOID:0110387 retinitis pigmentosa 9 A retinitis pigmentosa that has_material_basis_in mutation in the RP9 gene on chromosome 7p14. https://www.ncbi.nlm.nih.gov/pubmed/12032732 A retinitis pigmentosa that has_material_basis_in mutation in the IMPDH1 gene on chromosome 7q32. ICD10CM:H35.5 OMIM:180105 RP10 DOID:0110388 retinitis pigmentosa 10 A retinitis pigmentosa that has_material_basis_in mutation in the IMPDH1 gene on chromosome 7q32. https://www.ncbi.nlm.nih.gov/pubmed/11875050 A retinitis pigmentosa that has_material_basis_in mutation in the HGSNAT gene on chromosome 8p11. ICD10CM:H35.5 OMIM:616544 RP73 DOID:0110389 retinitis pigmentosa 73 A retinitis pigmentosa that has_material_basis_in mutation in the HGSNAT gene on chromosome 8p11. https://www.ncbi.nlm.nih.gov/pubmed/25859010 A retinitis pigmentosa that has_material_basis_in mutation in the RP1 gene on chromosome 8q12. ICD10CM:H35.5 OMIM:180100 RP1 DOID:0110390 retinitis pigmentosa 1 A retinitis pigmentosa that has_material_basis_in mutation in the RP1 gene on chromosome 8q12. https://www.ncbi.nlm.nih.gov/pubmed/10391211 A retinitis pigmentosa that has_material_basis_in mutation in the TOPORS gene on chromosome 9p21. ICD10CM:H35.5 OMIM:609923 RP31 DOID:0110391 retinitis pigmentosa 31 A retinitis pigmentosa that has_material_basis_in mutation in the TOPORS gene on chromosome 9p21. https://www.ncbi.nlm.nih.gov/pubmed/17924349 A retinitis pigmentosa that has_material_basis_in mutation in the PRPF4 gene on chromosome 9q32. ICD10CM:H35.5 OMIM:615922 RP70 DOID:0110392 retinitis pigmentosa 70 A retinitis pigmentosa that has_material_basis_in mutation in the PRPF4 gene on chromosome 9q32. https://www.ncbi.nlm.nih.gov/pubmed/24419317 A retinitis pigmentosa that has_material_basis_in mutation in the RBP3 gene on chromosome 10q11. ICD10CM:H35.5 OMIM:615233 RP66 DOID:0110393 retinitis pigmentosa 66 A retinitis pigmentosa that has_material_basis_in mutation in the RBP3 gene on chromosome 10q11. https://www.ncbi.nlm.nih.gov/pubmed/19074801 A retinitis pigmentosa that has_material_basis_in mutation in the RGR gene on chromosome 10q23. ICD10CM:H35.5 OMIM:613769 RP44 DOID:0110394 retinitis pigmentosa 44 A retinitis pigmentosa that has_material_basis_in mutation in the RGR gene on chromosome 10q23. https://www.ncbi.nlm.nih.gov/pubmed/10581022 A retinitis pigmentosa that has_material_basis_in mutation in the ZNF408 gene on chromosome 11p11. ICD10CM:H35.5 OMIM:616469 RP72 DOID:0110395 retinitis pigmentosa 72 A retinitis pigmentosa that has_material_basis_in mutation in the ZNF408 gene on chromosome 11p11. https://www.ncbi.nlm.nih.gov/pubmed/25882705 A retinitis pigmentosa that has_material_basis_in mutation in the BEST1 gene on chromosome 11q13. ICD10CM:H35.5 OMIM:613194 RP50 DOID:0110396 retinitis pigmentosa 50 A retinitis pigmentosa that has_material_basis_in mutation in the BEST1 gene on chromosome 11q13. https://www.ncbi.nlm.nih.gov/pubmed/19853238 A retinitis pigmentosa that has_material_basis_in mutation in the NRL gene on chromosome 14q11. ICD10CM:H35.5 OMIM:613750 RP27 DOID:0110397 retinitis pigmentosa 27 A retinitis pigmentosa that has_material_basis_in mutation in the NRL gene on chromosome 14q11. https://www.ncbi.nlm.nih.gov/pubmed/10192380 A retinitis pigmentosa that has_material_basis_in mutation in the TTC8 gene on chromosome 14q31. ICD10CM:H35.5 OMIM:613464 RP51 DOID:0110398 retinitis pigmentosa 51 A retinitis pigmentosa that has_material_basis_in mutation in the TTC8 gene on chromosome 14q31. https://www.ncbi.nlm.nih.gov/pubmed/20451172 A retinitis pigmentosa that has_material_basis_in mutation in the NR2E3 gene on chromosome 15q23. ICD10CM:H35.5 OMIM:611131 RP37 DOID:0110399 retinitis pigmentosa 37 A retinitis pigmentosa that has_material_basis_in mutation in the NR2E3 gene on chromosome 15q23. https://www.ncbi.nlm.nih.gov/pubmed/17564971 A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 16p12.3-p12.1. ICD10CM:H35.5 OMIM:602594 RP22 DOID:0110400 retinitis pigmentosa 22 A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 16p12.3-p12.1. https://www.ncbi.nlm.nih.gov/pubmed/9545639 A retinitis pigmentosa that has_material_basis_in mutation in the BBS2 gene on chromosome 16q13. ICD10CM:H35.5 OMIM:616562 RP74 DOID:0110401 retinitis pigmentosa 74 A retinitis pigmentosa that has_material_basis_in mutation in the BBS2 gene on chromosome 16q13. https://www.ncbi.nlm.nih.gov/pubmed/25541840 A retinitis pigmentosa that has_material_basis_in mutation in the CNGB1 gene on chromosome 16q13. ICD10CM:H35.5 OMIM:613767 RP45 DOID:0110402 retinitis pigmentosa 45 A retinitis pigmentosa that has_material_basis_in mutation in the CNGB1 gene on chromosome 16q13. https://www.ncbi.nlm.nih.gov/pubmed/11379879 A retinitis pigmentosa that has_material_basis_in mutations in the PRPF8 gene on chromosome 17p13.3. ICD10CM:H35.5 OMIM:600059 RP13 DOID:0110403 retinitis pigmentosa 13 A retinitis pigmentosa that has_material_basis_in mutations in the PRPF8 gene on chromosome 17p13.3. https://www.ncbi.nlm.nih.gov/pubmed/11468273 A retinitis pigmentosa that has_material_basis_in mutation in the CA4 gene on chromosome 17q23.1. ICD10CM:H35.5 OMIM:600852 RP17 DOID:0110404 retinitis pigmentosa 17 A retinitis pigmentosa that has_material_basis_in mutation in the CA4 gene on chromosome 17q23.1. https://www.ncbi.nlm.nih.gov/pubmed/15090652 A retinitis pigmentosa that has_material_basis_in mutation in the PRCD gene on chromosome 17q25. ICD10CM:H35.5 OMIM:610599 RP36 DOID:0110405 retinitis pigmentosa 36 A retinitis pigmentosa that has_material_basis_in mutation in the PRCD gene on chromosome 17q25. https://www.ncbi.nlm.nih.gov/pubmed/16938425 A retinitis pigmentosa that has_material_basis_in mutation in the FSCN2 gene on chromosome 17q25. ICD10CM:H35.5 OMIM:607921 RP30 DOID:0110406 retinitis pigmentosa 30 A retinitis pigmentosa that has_material_basis_in mutation in the FSCN2 gene on chromosome 17q25. https://www.ncbi.nlm.nih.gov/pubmed/14609921 A retinitis pigmentosa that has_material_basis_in mutation in the PDE6G gene on chromosome 17q25.3. ICD10CM:H35.5 OMIM:613582 RP57 DOID:0110407 retinitis pigmentosa 57 A retinitis pigmentosa that has_material_basis_in mutation in the PDE6G gene on chromosome 17q25.3. https://www.ncbi.nlm.nih.gov/pubmed/20655036 A retinitis pigmentosa that has_material_basis_in mutation in the PRPF31 gene on chromosome 19q13. ICD10CM:H35.5 OMIM:600138 RP11 DOID:0110408 retinitis pigmentosa 11 A retinitis pigmentosa that has_material_basis_in mutation in the PRPF31 gene on chromosome 19q13. https://www.ncbi.nlm.nih.gov/pubmed/11545739 A retinitis pigmentosa that has_material_basis_in mutation in the IDH3B on chromosome 20p13. ICD10CM:H35.5 OMIM:612572 RP46 DOID:0110409 retinitis pigmentosa 46 A retinitis pigmentosa that has_material_basis_in mutation in the IDH3B on chromosome 20p13. https://www.ncbi.nlm.nih.gov/pubmed/18806796 A retinitis pigmentosa that has_material_basis_in mutation in the KIZ gene on chromosome 20p11. ICD10CM:H35.5 OMIM:615780 RP69 DOID:0110410 retinitis pigmentosa 69 A retinitis pigmentosa that has_material_basis_in mutation in the KIZ gene on chromosome 20p11. https://www.ncbi.nlm.nih.gov/pubmed/24680887 A retinitis pigmentosa that has_material_basis_in mutation in the PRPF6 gene on chromosome 20q13.33. ICD10CM:H35.5 OMIM:613983 RP60 DOID:0110411 retinitis pigmentosa 60 A retinitis pigmentosa that has_material_basis_in mutation in the PRPF6 gene on chromosome 20q13.33. https://www.ncbi.nlm.nih.gov/pubmed/21549338 A retinitis pigmentosa that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22. ICD10CM:H35.5 OMIM:300424 RP23 DOID:0110412 retinitis pigmentosa 23 A retinitis pigmentosa that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22. https://www.ncbi.nlm.nih.gov/pubmed/22619378 A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xp21.3-p21.2. ICD10CM:H35.5 OMIM:312612 RP6 DOID:0110413 retinitis pigmentosa 6 A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xp21.3-p21.2. https://www.ncbi.nlm.nih.gov/pubmed/2300556 A retinitis pigmentosa that has_material_basis_in mutation in the RPGR gene on chromosome Xp11. ICD10CM:H35.5 OMIM:300029 RP3 DOID:0110414 retinitis pigmentosa 3 A retinitis pigmentosa that has_material_basis_in mutation in the RPGR gene on chromosome Xp11. https://www.ncbi.nlm.nih.gov/pubmed/8673101 A retinitis pigmentosa that has_material_basis_in mutation in the RP2 gene on chromosome Xp11.3. ICD10CM:H35.5 OMIM:312600 RP2 DOID:0110415 retinitis pigmentosa 2 A retinitis pigmentosa that has_material_basis_in mutation in the RP2 gene on chromosome Xp11.3. https://www.ncbi.nlm.nih.gov/pubmed/9697692 A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xq26-q27. ICD10CM:H35.5 OMIM:300155 RP24 DOID:0110416 retinitis pigmentosa 24 A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xq26-q27. https://www.ncbi.nlm.nih.gov/pubmed/10690843 A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xq28. ICD10CM:H35.5 OMIM:300605 RP34 DOID:0110417 retinitis pigmentosa 34 A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xq28. https://www.ncbi.nlm.nih.gov/pubmed/16740911 A retinitis pigmentosa that has_material_basis_in variation on the Y chromosome. ICD10CM:H35.5 OMIM:400004 RPY DOID:0110418 retinitis pigmentosa Y-linked A retinitis pigmentosa that has_material_basis_in variation on the Y chromosome. https://www.ncbi.nlm.nih.gov/pubmed/7493160 A retinitis pigmentosa that has_material_basis_in mutation in the ARL2BP gene on chromosome 16q13. ICD10CM:H35.5 OMIM:615434 DOID:0110419 retinitis pigmentosa with or without situs inversus A retinitis pigmentosa that has_material_basis_in mutation in the ARL2BP gene on chromosome 16q13. https://www.ncbi.nlm.nih.gov/pubmed/23849777 A retinitis pigmentosa that is characterized pigmentary retinal degeneration with onset in the teens leading to blindness in the sixth ans seventh decades of life. ICD10CM:H35.5 OMIM:180210 DOID:0110420 dominant pericentral pigmentary retinopathy A retinitis pigmentosa that is characterized pigmentary retinal degeneration with onset in the teens leading to blindness in the sixth ans seventh decades of life. https://www.ncbi.nlm.nih.gov/pubmed/3618160 A retinitis pigmentosa that is characterized by onset of symptoms in the fifth or sixth decade of life. ICD10CM:H35.5 OMIM:268025 senile retinitis pigmentosa DOID:0110421 late-adult onset retinitis pigmentosa A retinitis pigmentosa that is characterized by onset of symptoms in the fifth or sixth decade of life. https://www.ncbi.nlm.nih.gov/pubmed/1424244 A retinitis pigmentosa that is characterized autosomal recessive inheritance of pigmentary retinal degeneration with onset in the infancy but slower rates of progression than other forms of retinopathy. ICD10CM:H35.5 OMIM:268060 DOID:0110422 autosomal recessive pericentral pigmentary retinopathy A retinitis pigmentosa that is characterized autosomal recessive inheritance of pigmentary retinal degeneration with onset in the infancy but slower rates of progression than other forms of retinopathy. https://www.ncbi.nlm.nih.gov/pubmed/3189470 A dilated cardiomyopathy that has_material_basis_in mutation in the LDB3 gene on chromosome 10q23.2. ICD10CM:I42.0 OMIM:601493 CMDC1 dilated cardiomyopathy 1C with or without left ventricular noncompaction DOID:0110423 dilated cardiomyopathy 1C A dilated cardiomyopathy that has_material_basis_in mutation in the LDB3 gene on chromosome 10q23.2. https://www.ncbi.nlm.nih.gov/pubmed/14662268 A dilated cardiomyopathy that has_material_basis_in mutation in the NEXN gene on chromosome 1p31.1. ICD10CM:I42.0 OMIM:613122 CMD1CC DOID:0110424 dilated cardiomyopathy 1CC A dilated cardiomyopathy that has_material_basis_in mutation in the NEXN gene on chromosome 1p31.1. https://www.ncbi.nlm.nih.gov/pubmed/19881492 A dilated cardiomyopathy that has_material_basis_in mutation in the LMNA gene on chromosome 1q21. OMIM:115200 ORDO:300751 CDCD1 CMD1A dilated cardiomyopathy with conduction defect 1 familial dilated cardiomyopathy with conduction defect due to LMNA mutation DOID:0110425 dilated cardiomyopathy 1A A dilated cardiomyopathy that has_material_basis_in mutation in the LMNA gene on chromosome 1q21. https://www.ncbi.nlm.nih.gov/pubmed/10580070 A dilated cardiomyopathy that has_material_basis_in mutation in the TNNT2 gene on chromosome 1q32. ICD10CM:I42.0 OMIM:601494 CMD1D DOID:0110426 dilated cardiomyopathy 1D A dilated cardiomyopathy that has_material_basis_in mutation in the TNNT2 gene on chromosome 1q32. https://www.ncbi.nlm.nih.gov/pubmed/11106718 A dilated cardiomyopathy that has_material_basis_in mutation in the PSEN2 gene on chromosome 1q31-q42. ICD10CM:I42.0 OMIM:613697 CMD1V DOID:0110427 dilated cardiomyopathy 1V A dilated cardiomyopathy that has_material_basis_in mutation in the PSEN2 gene on chromosome 1q31-q42. https://www.ncbi.nlm.nih.gov/pubmed/17186461 A dilated cardiomyopathy that has_material_basis_in mutation in the ACTN2 gene on chromosome 1q43. ICD10CM:I42.0 OMIM:612158 CMD1AA dilated cardiomyopathy 1AA with or without left ventricular noncompaction DOID:0110428 dilated cardiomyopathy 1AA A dilated cardiomyopathy that has_material_basis_in mutation in the ACTN2 gene on chromosome 1q43. https://www.ncbi.nlm.nih.gov/pubmed/14567970 A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 2q14-q22. ICD10CM:I42.0 OMIM:604288 CMD1H dilated cardiomyopathy with conduction defect DOID:0110429 dilated cardiomyopathy 1H A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 2q14-q22. https://www.ncbi.nlm.nih.gov/pubmed/10486326 A dilated cardiomyopathy that has_material_basis_in mutation in the TTN gene on chromosome 2q31. ICD10CM:I42.0 OMIM:604145 CMD1G DOID:0110430 dilated cardiomyopathy 1G A dilated cardiomyopathy that has_material_basis_in mutation in the TTN gene on chromosome 2q31. https://www.ncbi.nlm.nih.gov/pubmed/11788824 A dilated cardiomyopathy that has_material_basis_in mutation in the DES gene on chromosome 2q35. ICD10CM:I42.0 OMIM:604765 CMD1I DOID:0110431 dilated cardiomyopathy 1I A dilated cardiomyopathy that has_material_basis_in mutation in the DES gene on chromosome 2q35. https://www.ncbi.nlm.nih.gov/pubmed/10430757 A dilated cardiomyopathy that has_material_basis_in mutation in the RAF1 gene on chromosome 3p25. ICD10CM:I42.0 OMIM:615916 CMD1NN DOID:0110432 dilated cardiomyopathy 1NN A dilated cardiomyopathy that has_material_basis_in mutation in the RAF1 gene on chromosome 3p25. https://www.ncbi.nlm.nih.gov/pubmed/24777450 A dilated cardiomyopathy that has_material_basis_in mutation in the SCN5A gene on chromosome 3p22.2. ICD10CM:I42.0 OMIM:601154 CDCD2 CMD1E dilated cardiomyopathy with conduction defect 2 dilated cardiomyopathy with conduction disorder and arrhythmia DOID:0110433 dilated cardiomyopathy 1E A dilated cardiomyopathy that has_material_basis_in mutation in the SCN5A gene on chromosome 3p22.2. https://www.ncbi.nlm.nih.gov/pubmed/15466643 A dilated cardiomyopathy that has_material_basis_in mutation in the TNNC1 gene on chromosome 3p. ICD10CM:I42.0 OMIM:611879 CMD1Z DOID:0110434 dilated cardiomyopathy 1Z A dilated cardiomyopathy that has_material_basis_in mutation in the TNNC1 gene on chromosome 3p. https://www.ncbi.nlm.nih.gov/pubmed/15542288 A dilated cardiomyopathy that has_material_basis_in mutation in the SDHA gene on chromosome 5p15.33. ICD10CM:I42.0 OMIM:613642 CMD1GG DOID:0110435 dilated cardiomyopathy 1GG A dilated cardiomyopathy that has_material_basis_in mutation in the SDHA gene on chromosome 5p15.33. https://www.ncbi.nlm.nih.gov/pubmed/20551992 A dilated cardiomyopathy that has_material_basis_in mutations in the SGCD gene on chromosome 5q33.2-q33.3. ICD10CM:I42.0 OMIM:606685 CMD1L DOID:0110436 dilated cardiomyopathy 1L A dilated cardiomyopathy that has_material_basis_in mutations in the SGCD gene on chromosome 5q33.2-q33.3. https://www.ncbi.nlm.nih.gov/pubmed/10974018 A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 6q12-q16. ICD10CM:I42.0 OMIM:605582 CMD1K DOID:0110437 dilated cardiomyopathy 1K A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 6q12-q16. https://www.ncbi.nlm.nih.gov/pubmed/11085912 A dilated cardiomyopathy that has_material_basis_in mutation in the LAMA4 gene on chromosome 6q21. ICD10CM:I42.0 OMIM:615235 CMD1JJ DOID:0110438 dilated cardiomyopathy 1JJ A dilated cardiomyopathy that has_material_basis_in mutation in the LAMA4 gene on chromosome 6q21. https://www.ncbi.nlm.nih.gov/pubmed/17646580 A dilated cardiomyopathy that has_material_basis_in mutation in the PLN gene on chromosome 6q22. ICD10CM:I42.0 OMIM:609909 CMD1P DOID:0110439 dilated cardiomyopathy 1P A dilated cardiomyopathy that has_material_basis_in mutation in the PLN gene on chromosome 6q22. https://www.ncbi.nlm.nih.gov/pubmed/12610310 A dilated cardiomyopathy that has_material_basis_in mutation in the EYA4 gene on chromosome 6q23.2. OMIM:605362 ORDO:217622 CMD1J autosomal dominant dilated cardiomyopathy with sensorineural hearing loss neurosensory deafness with dilated cardiomyopathy neurosensory hearing loss with dilated cardiomyopathy sensorineural deafness with dilated cardiomyopathy sensorineural hearing loss with dilated cardiomyopathy DOID:0110440 dilated cardiomyopathy 1J A dilated cardiomyopathy that has_material_basis_in mutation in the EYA4 gene on chromosome 6q23.2. https://www.ncbi.nlm.nih.gov/pubmed/15735644 A dilated cardiomyopathy that has_material_basis_in mutation in the GATAD1 gene on chromosome 7q21. ICD10CM:I42.0 OMIM:614672 CMD2B DOID:0110441 dilated cardiomyopathy 2B A dilated cardiomyopathy that has_material_basis_in mutation in the GATAD1 gene on chromosome 7q21. https://www.ncbi.nlm.nih.gov/pubmed/21965549 A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 7q22.3-q31.1. ICD10CM:I42.0 OMIM:609915 CMD1Q DOID:0110442 dilated cardiomyopathy 1Q A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 7q22.3-q31.1. https://www.ncbi.nlm.nih.gov/pubmed/16228230 A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 9q13. ICD10CM:I42.0 OMIM:600884 CMD1B DOID:0110443 dilated cardiomyopathy 1B A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 9q13. https://www.ncbi.nlm.nih.gov/pubmed/7573045 A dilated cardiomyopathy that has_material_basis_in mutation in the FKTN gene on chromosome 9q31. ICD10CM:I42.0 OMIM:611615 CMD1X dilated cardiomyopathy with mild or no proximal muscle weakness DOID:0110444 dilated cardiomyopathy 1X A dilated cardiomyopathy that has_material_basis_in mutation in the FKTN gene on chromosome 9q31. https://www.ncbi.nlm.nih.gov/pubmed/17036286 A dilated cardiomyopathy that has_material_basis_in mutation in the MYPN gene on chromosome 10q21. ICD10CM:I42.0 OMIM:615248 CMD1KK DOID:0110445 dilated cardiomyopathy 1KK A dilated cardiomyopathy that has_material_basis_in mutation in the MYPN gene on chromosome 10q21. https://www.ncbi.nlm.nih.gov/pubmed/18006477 A dilated cardiomyopathy that has_material_basis_in mutation in the VCL gene on chromosome 10q22.2. ICD10CM:I42.0 OMIM:611407 CMD1W DOID:0110446 dilated cardiomyopathy 1W A dilated cardiomyopathy that has_material_basis_in mutation in the VCL gene on chromosome 10q22.2. https://www.ncbi.nlm.nih.gov/pubmed/11815424 A dilated cardiomyopathy that has_material_basis_in mutation in the RBM20 gene on chromosome 10q25. ICD10CM:I42.0 OMIM:613172 CMD1DD DOID:0110447 dilated cardiomyopathy 1DD A dilated cardiomyopathy that has_material_basis_in mutation in the RBM20 gene on chromosome 10q25. https://www.ncbi.nlm.nih.gov/pubmed/19712804 A dilated cardiomyopathy that has_material_basis_in mutation in the BAG3 gene on chromosome 10q26.11. ICD10CM:I42.0 OMIM:613881 CMD1HH DOID:0110448 dilated cardiomyopathy 1HH A dilated cardiomyopathy that has_material_basis_in mutation in the BAG3 gene on chromosome 10q26.11. https://www.ncbi.nlm.nih.gov/pubmed/21353195 A dilated cardiomyopathy that has_material_basis_in mutation in the CSRP3 gene on chromosome 11p15. ICD10CM:I42.0 OMIM:607482 CMD1M DOID:0110449 dilated cardiomyopathy 1M A dilated cardiomyopathy that has_material_basis_in mutation in the CSRP3 gene on chromosome 11p15. https://www.ncbi.nlm.nih.gov/pubmed/12507422 https://www.ncbi.nlm.nih.gov/pubmed/14567970 A dilated cardiomyopathy that has_material_basis_in mutation in the CRYAB gene on chromosome 11q23. ICD10CM:I42.0 OMIM:615184 CMD1II DOID:0110450 dilated cardiomyopathy 1II A dilated cardiomyopathy that has_material_basis_in mutation in the CRYAB gene on chromosome 11q23. https://www.ncbi.nlm.nih.gov/pubmed/16483541 A dilated cardiomyopathy that has_material_basis_in mutation in the ABCC9 gene on chromosome 12p12.1. ICD10CM:I42.0 OMIM:608569 CMD1O dilated cardiomyopathy with ventricular tachycardia DOID:0110451 dilated cardiomyopathy 1O A dilated cardiomyopathy that has_material_basis_in mutation in the ABCC9 gene on chromosome 12p12.1. https://www.ncbi.nlm.nih.gov/pubmed/15034580 A dilated cardiomyopathy that has_material_basis_in mutation in the TMPO gene on chromosome 12q22. ICD10CM:I42.0 CMD1T DOID:0110452 dilated cardiomyopathy 1T A dilated cardiomyopathy that has_material_basis_in mutation in the TMPO gene on chromosome 12q22. https://www.ncbi.nlm.nih.gov/pubmed/16247757 A dilated cardiomyopathy that has_material_basis_in mutation in the MYH6 gene on chromosome 14q11.2. ICD10CM:I42.0 OMIM:613252 CMD1EE DOID:0110453 dilated cardiomyopathy 1EE A dilated cardiomyopathy that has_material_basis_in mutation in the MYH6 gene on chromosome 14q11.2. https://www.ncbi.nlm.nih.gov/pubmed/15998695 A dilated cardiomyopathy that has_material_basis_in mutation in the MYH7 gene on chromosome 14q12. ICD10CM:I42.0 OMIM:613426 CMD1S DOID:0110454 dilated cardiomyopathy 1S A dilated cardiomyopathy that has_material_basis_in mutation in the MYH7 gene on chromosome 14q12. https://www.ncbi.nlm.nih.gov/pubmed/11106718 A dilated cardiomyopathy that has_material_basis_in mutation in the PSEN1 gene on chromosome 14q24.3. ICD10CM:I42.0 OMIM:613694 CMD1U DOID:0110455 dilated cardiomyopathy 1U A dilated cardiomyopathy that has_material_basis_in mutation in the PSEN1 gene on chromosome 14q24.3. https://www.ncbi.nlm.nih.gov/pubmed/17186461 A dilated cardiomyopathy that has_material_basis_in mutation in the ACTC1 gene on chromosome 15q14. ICD10CM:I42.0 OMIM:613424 CMD1R DOID:0110456 dilated cardiomyopathy 1R A dilated cardiomyopathy that has_material_basis_in mutation in the ACTC1 gene on chromosome 15q14. https://www.ncbi.nlm.nih.gov/pubmed/17611253 A dilated cardiomyopathy that has_material_basis_in mutation in the TPM1 gene on chromosome 15q22.1. ICD10CM:I42.0 OMIM:611878 CMD1Y DOID:0110457 dilated cardiomyopathy 1Y A dilated cardiomyopathy that has_material_basis_in mutation in the TPM1 gene on chromosome 15q22.1. https://www.ncbi.nlm.nih.gov/pubmed/11273725 A dilated cardiomyopathy that has_material_basis_in mutation the DSG2 gene on chromosome 18q12.1. ICD10CM:I42.0 OMIM:612877 CMD1BB DOID:0110458 dilated cardiomyopathy 1BB A dilated cardiomyopathy that has_material_basis_in mutation the DSG2 gene on chromosome 18q12.1. https://www.ncbi.nlm.nih.gov/pubmed/18678517 A dilated cardiomyopathy that has_material_basis_in mutation in the TNNI3 gene on chromosome 19q13.42. ICD10CM:I42.0 OMIM:613286 CMD1FF DOID:0110459 dilated cardiomyopathy 1FF A dilated cardiomyopathy that has_material_basis_in mutation in the TNNI3 gene on chromosome 19q13.42. https://www.ncbi.nlm.nih.gov/pubmed/19590045 A dilated cardiomyopathy that has_material_basis_in mutation in the TNNI3 gene on chromosome 19q13. ICD10CM:I42.0 OMIM:611880 CMD2A DOID:0110460 dilated cardiomyopathy 2A A dilated cardiomyopathy that has_material_basis_in mutation in the TNNI3 gene on chromosome 19q13. https://www.ncbi.nlm.nih.gov/pubmed/15070570 A dilated cardiomyopathy that has_material_basis_in mutation in the DMD gene on chromosome Xp21. ICD10CM:I42.0 OMIM:302045 CMD3B DOID:0110461 dilated cardiomyopathy 3B A dilated cardiomyopathy that has_material_basis_in mutation in the DMD gene on chromosome Xp21. https://www.ncbi.nlm.nih.gov/pubmed/8361506 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the GRXCR2 gene on chromosome 5q32. ICD10CM:H90.3 OMIM:615837 DFNB101 autosomal recessive deafness 101 DOID:0110462 autosomal recessive nonsyndromic deafness 101 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the GRXCR2 gene on chromosome 5q32. https://www.ncbi.nlm.nih.gov/pubmed/24619944 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the EPS8 gene on chromosome 12p12. ICD10CM:H90.3 OMIM:615974 DFNB102 autosomal recessive deafness 102 DOID:0110463 autosomal recessive nonsyndromic deafness 102 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the EPS8 gene on chromosome 12p12. https://www.ncbi.nlm.nih.gov/pubmed/24741995 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CLIC5 gene on chromosome 6p21. ICD10CM:H90.3 OMIM:616042 DFNB103 autosomal recessive deafness 103 DOID:0110464 autosomal recessive nonsyndromic deafness 103 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CLIC5 gene on chromosome 6p21. https://www.ncbi.nlm.nih.gov/pubmed/24781754 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the FAM65B gene on chromosome 6p22. ICD10CM:H90.3 OMIM:616515 DFNB104 autosomal recessive deafness 104 DOID:0110465 autosomal recessive nonsyndromic deafness 104 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the FAM65B gene on chromosome 6p22. https://www.ncbi.nlm.nih.gov/pubmed/24958875 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CDC14A gene on chromosome 1p21. ICD10CM:H90.3 OMIM:616958 DFNB105 autosomal recessive deafness 105 DOID:0110466 autosomal recessive nonsyndromic deafness 105 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CDC14A gene on chromosome 1p21. https://www.ncbi.nlm.nih.gov/pubmed/27259055 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the CDH23 gene on chromosome 10q22. ICD10CM:H90.3 OMIM:601386 DFNB12 autosomal recessive deafness 12 DOID:0110467 autosomal recessive nonsyndromic deafness 12 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the CDH23 gene on chromosome 10q22. https://www.ncbi.nlm.nih.gov/pubmed/11090341 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 7q34-q36. ICD10CM:H90.3 OMIM:603098 DFNB13 autosomal recessive deafness 13 DOID:0110468 autosomal recessive nonsyndromic deafness 13 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 7q34-q36. https://www.ncbi.nlm.nih.gov/pubmed/9781028 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation between D7S554 and D7S2459 in the chromosome region 7q31. ICD10CM:H90.3 OMIM:603678 DFNB14 autosomal recessive deafness 14 DOID:0110469 autosomal recessive nonsyndromic deafness 14 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation between D7S554 and D7S2459 in the chromosome region 7q31. https://www.ncbi.nlm.nih.gov/pubmed/9887371 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the GIPC3 gene on chromosome 19p13. ICD10CM:H90.3 OMIM:601869 DFNB15 DFNB72 DFNB95 autosomal recessive deafness 15 autosomal recessive deafness 72 autosomal recessive deafness 95 DOID:0110470 autosomal recessive nonsyndromic deafness 15 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the GIPC3 gene on chromosome 19p13. https://www.ncbi.nlm.nih.gov/pubmed/21326233 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the STRC gene on chromosome 15q15. ICD10CM:H90.3 OMIM:603720 DFNB16 autosomal recessive deafness 16 DOID:0110471 autosomal recessive nonsyndromic deafness 16 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the STRC gene on chromosome 15q15. https://www.ncbi.nlm.nih.gov/pubmed/11687802 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation between D7S2453 and D7S525 in the chromosome region 7q31. ICD10CM:H90.3 OMIM:603010 DFNB17 autosomal recessive deafness 17 DOID:0110472 autosomal recessive nonsyndromic deafness 17 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation between D7S2453 and D7S525 in the chromosome region 7q31. https://www.ncbi.nlm.nih.gov/pubmed/15293785 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the USH1C gene on chromosome 11p15. ICD10CM:H90.3 OMIM:602092 DFNB18A autosomal recessive deafness 18A DOID:0110473 autosomal recessive nonsyndromic deafness 18A An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the USH1C gene on chromosome 11p15. https://www.ncbi.nlm.nih.gov/pubmed/12136232 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the OTOG gene on chromosome 11p15. ICD10CM:H90.3 OMIM:614945 DFNB18B autosomal recessive deafness 18B DOID:0110474 autosomal recessive nonsyndromic deafness 18B An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the OTOG gene on chromosome 11p15. https://www.ncbi.nlm.nih.gov/pubmed/23122587 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12. ICD10CM:H90.3 OMIM:220290 DFNB1A autosomal recessive deafness 1A DOID:0110475 autosomal recessive nonsyndromic deafness 1A An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12. https://www.ncbi.nlm.nih.gov/pubmed/9139825 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has_material_basis_in mutation in the GJB6 gene on chromosome 13q12. ICD10CM:H90.3 OMIM:612645 DFNB1B autosomal recessive deafness 1B DOID:0110476 autosomal recessive nonsyndromic deafness 1B An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has_material_basis_in mutation in the GJB6 gene on chromosome 13q12. https://www.ncbi.nlm.nih.gov/pubmed/11807148 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MYO7A gene on chromosome 11q13. ICD10CM:H90.3 OMIM:600060 DFNB2 autosomal recessive deafness 2 DOID:0110477 autosomal recessive nonsyndromic deafness 2 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MYO7A gene on chromosome 11q13. https://www.ncbi.nlm.nih.gov/pubmed/9171833 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11q25-qter. ICD10CM:H90.3 OMIM:604060 DFNB20 autosomal recessive deafness 20 DOID:0110478 autosomal recessive nonsyndromic deafness 20 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11q25-qter. https://www.ncbi.nlm.nih.gov/pubmed/10196710 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TECTA gene on chromosome 11q23.3. ICD10CM:H90.3 OMIM:603629 DFNB21 autosomal recessive deafness 21 DOID:0110479 autosomal recessive nonsyndromic deafness 21 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TECTA gene on chromosome 11q23.3. https://www.ncbi.nlm.nih.gov/pubmed/9949200 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the OTOA gene on chromosome 16p12. ICD10CM:H90.3 OMIM:607039 DFNB22 autosomal recessive deafness 22 DOID:0110480 autosomal recessive nonsyndromic deafness 22 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the OTOA gene on chromosome 16p12. https://www.ncbi.nlm.nih.gov/pubmed/11972037 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the PCDH15 gene on chromosome 10q21. ICD10CM:H90.3 OMIM:609533 DFNB23 autosomal recessive deafness 23 DOID:0110481 autosomal recessive nonsyndromic deafness 23 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the PCDH15 gene on chromosome 10q21. https://www.ncbi.nlm.nih.gov/pubmed/14570705 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the RDX gene on chromosome 11q22. ICD10CM:H90.3 OMIM:611022 DFNB24 autosomal recessive deafness 24 DOID:0110482 autosomal recessive nonsyndromic deafness 24 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the RDX gene on chromosome 11q22. https://www.ncbi.nlm.nih.gov/pubmed/17226784 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the GRXCR1 gene on chromosome 4p13. ICD10CM:H90.3 OMIM:613285 DFNB25 autosomal recessive deafness 25 DOID:0110483 autosomal recessive nonsyndromic deafness 25 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the GRXCR1 gene on chromosome 4p13. https://www.ncbi.nlm.nih.gov/pubmed/20137778 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q31. ICD10CM:H90.3 OMIM:605428 DFNB26 autosomal recessive deafness 26 DOID:0110484 autosomal recessive nonsyndromic deafness 26 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q31. https://www.ncbi.nlm.nih.gov/pubmed/11101839 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2q23-q31. ICD10CM:H90.3 OMIM:605818 DFNB27 autosomal recessive deafness 27 DOID:0110485 autosomal recessive nonsyndromic deafness 27 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2q23-q31. https://www.ncbi.nlm.nih.gov/pubmed/11175289 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TRIOBP gene on chromosome 22q13. ICD10CM:H90.3 OMIM:609823 DFNB28 autosomal recessive deafness 28 DOID:0110486 autosomal recessive nonsyndromic deafness 28 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TRIOBP gene on chromosome 22q13. https://www.ncbi.nlm.nih.gov/pubmed/16385458 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the CLDN14 gene on chromosome 21q22. ICD10CM:H90.3 OMIM:614035 DFNB29 autosomal recessive deafness 29 DOID:0110487 autosomal recessive nonsyndromic deafness 29 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the CLDN14 gene on chromosome 21q22. https://www.ncbi.nlm.nih.gov/pubmed/11163249 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the MYO15A gene on chromosome 17p11. ICD10CM:H90.3 OMIM:600316 DFNB3 NRSD3 autosomal recessive deafness 3, neurosensory nonsyndromic recessive deafness 3 DOID:0110488 autosomal recessive nonsyndromic deafness 3 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the MYO15A gene on chromosome 17p11. https://www.ncbi.nlm.nih.gov/pubmed/17851452 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutations in the MYO3A gene on chromosome 10p12.1. ICD10CM:H90.3 OMIM:607101 ORDO:90636 DFNB30 autosomal recessive deafness 30 DOID:0110489 autosomal recessive nonsyndromic deafness 30 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutations in the MYO3A gene on chromosome 10p12.1. https://www.ncbi.nlm.nih.gov/pubmed/12032315 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the WHRN gene on chromosome 9q32. ICD10CM:H90.3 OMIM:607084 DFNB31 autosomal recessive deafness 31 DOID:0110490 autosomal recessive nonsyndromic deafness 31 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the WHRN gene on chromosome 9q32. https://www.ncbi.nlm.nih.gov/pubmed/12833159 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in variation in the chromosome region 1p22.1-p13.3. ICD10CM:H90.3 OMIM:608653 DFNB32 autosomal recessive deafness 32 DOID:0110491 autosomal recessive nonsyndromic deafness 32 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in variation in the chromosome region 1p22.1-p13.3. https://www.ncbi.nlm.nih.gov/pubmed/12634867 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 10p11.23-q21.1. ICD10CM:H90.3 OMIM:607239 DFNB33 autosomal recessive deafness 33 DOID:0110492 autosomal recessive nonsyndromic deafness 33 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 10p11.23-q21.1. https://www.ncbi.nlm.nih.gov/pubmed/12080392 An autosomal recessive nonsyndromic deafness that is characterized severe to profound hearing loss and has_material_basis_in mutation in the ESRRB gene on chromosome 14q24. ICD10CM:H90.3 OMIM:608565 DFNB35 autosomal recessive deafness 35 DOID:0110493 autosomal recessive nonsyndromic deafness 35 An autosomal recessive nonsyndromic deafness that is characterized severe to profound hearing loss and has_material_basis_in mutation in the ESRRB gene on chromosome 14q24. https://www.ncbi.nlm.nih.gov/pubmed/18179891 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the ESPN gene on chromosome 1p36. ICD10CM:H90.3 OMIM:609006 DFNB36 autosomal recessive deafness 36 DOID:0110494 autosomal recessive nonsyndromic deafness 36 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the ESPN gene on chromosome 1p36. https://www.ncbi.nlm.nih.gov/pubmed/15286153 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the MYO6 gene on chromosome 6q14. ICD10CM:H90.3 OMIM:607821 DFNB37 autosomal recessive deafness 37 DOID:0110495 autosomal recessive nonsyndromic deafness 37 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the MYO6 gene on chromosome 6q14. https://www.ncbi.nlm.nih.gov/pubmed/12687499 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6q26-q27. ICD10CM:H90.3 OMIM:608219 DFNB38 autosomal recessive deafness 38 DOID:0110496 autosomal recessive nonsyndromic deafness 38 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6q26-q27. https://www.ncbi.nlm.nih.gov/pubmed/12890929 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, downsloping hearing loss and has_material_basis_in mutation in the HGF gene on chromosome 7q21. ICD10CM:H90.3 OMIM:608265 DFNB39 autosomal recessive deafness 39 DOID:0110497 autosomal recessive nonsyndromic deafness 39 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, downsloping hearing loss and has_material_basis_in mutation in the HGF gene on chromosome 7q21. https://www.ncbi.nlm.nih.gov/pubmed/19576567 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the SLC26A4 gene on chromosome 7q22. ICD10CM:H90.3 OMIM:600791 DFNB4 autosomal recessive deafness 4 with enlarged vestibular aqueduct DOID:0110498 autosomal recessive nonsyndromic deafness 4 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the SLC26A4 gene on chromosome 7q22. https://www.ncbi.nlm.nih.gov/pubmed/9500541 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 22q11.21-q12.1. ICD10CM:H90.3 OMIM:608264 DFNB40 autosomal recessive deafness 40 DOID:0110499 autosomal recessive nonsyndromic deafness 40 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 22q11.21-q12.1. https://www.ncbi.nlm.nih.gov/pubmed/14512974 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ILDR1 gene on chromosome 3q13. ICD10CM:H90.3 OMIM:609646 DFNB42 autosomal recessive deafness 42 DOID:0110500 autosomal recessive nonsyndromic deafness 42 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ILDR1 gene on chromosome 3q13. https://www.ncbi.nlm.nih.gov/pubmed/21255762 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ADCY1 gene on chromosome 7p12. ICD10CM:H90.3 OMIM:610154 DFNB44 autosomal recessive deafness 44 DOID:0110501 autosomal recessive nonsyndromic deafness 44 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ADCY1 gene on chromosome 7p12. https://www.ncbi.nlm.nih.gov/pubmed/24482543 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 1q43-q44. ICD10CM:H90.3 OMIM:612433 DFNB45 autosomal recessive deafness 45 DOID:0110502 autosomal recessive nonsyndromic deafness 45 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 1q43-q44. https://www.ncbi.nlm.nih.gov/pubmed/18325041 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 18p11.32-p11.31. ICD10CM:H90.3 OMIM:609647 DFNB46 autosomal recessive deafness 46 DOID:0110503 autosomal recessive nonsyndromic deafness 46 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 18p11.32-p11.31. https://www.ncbi.nlm.nih.gov/pubmed/15637723 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p25.1-p24.3. ICD10CM:H90.3 OMIM:609946 DFNB47 autosomal recessive deafness 47 DOID:0110504 autosomal recessive nonsyndromic deafness 47 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p25.1-p24.3. https://www.ncbi.nlm.nih.gov/pubmed/16261342 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CIB2 gene on chromosome 15q25. ICD10CM:H90.3 OMIM:609439 DFNB48 autosomal recessive deafness 48 DOID:0110505 autosomal recessive nonsyndromic deafness 48 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CIB2 gene on chromosome 15q25. https://www.ncbi.nlm.nih.gov/pubmed/23023331 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, stable hearing loss and has_material_basis_in mutation in the MARVELD2 gene on chromosome 5q13. ICD10CM:H90.3 OMIM:610153 DFNB49 autosomal recessive deafness 49 DOID:0110506 autosomal recessive nonsyndromic deafness 49 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, stable hearing loss and has_material_basis_in mutation in the MARVELD2 gene on chromosome 5q13. https://www.ncbi.nlm.nih.gov/pubmed/18084694 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 14q12. ICD10CM:H90.3 OMIM:600792 DFNB5 autosomal recessive deafness 5 DOID:0110507 autosomal recessive nonsyndromic deafness 5 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 14q12. https://www.ncbi.nlm.nih.gov/pubmed/8944017 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11p13-p12. ICD10CM:H90.3 OMIM:609941 DFNB51 autosomal recessive deafness 51 DOID:0110508 autosomal recessive nonsyndromic deafness 51 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11p13-p12. https://www.ncbi.nlm.nih.gov/pubmed/16158433 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the COL11A2 gene on chromosome 6p21. ICD10CM:H90.3 OMIM:609706 DFNB53 autosomal recessive deafness 53 DOID:0110509 autosomal recessive nonsyndromic deafness 53 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the COL11A2 gene on chromosome 6p21. https://www.ncbi.nlm.nih.gov/pubmed/16033917 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q12-q13.2. ICD10CM:H90.3 OMIM:609952 DFNB55 autosomal recessive deafness 55 DOID:0110510 autosomal recessive nonsyndromic deafness 55 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q12-q13.2. https://www.ncbi.nlm.nih.gov/pubmed/16098016 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the DFNB59 gene on chromosome 2q31. ICD10CM:H90.3 OMIM:610220 DFNB59 autosomal recessive deafness 59 DOID:0110511 autosomal recessive nonsyndromic deafness 59 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the DFNB59 gene on chromosome 2q31. https://www.ncbi.nlm.nih.gov/pubmed/17301963 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TMIE gene on chromosome 3p21. ICD10CM:H90.3 OMIM:600971 DFNB6 autosomal recessive deafness 6 DOID:0110512 autosomal recessive nonsyndromic deafness 6 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TMIE gene on chromosome 3p21. https://www.ncbi.nlm.nih.gov/pubmed/12145746 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the SLC26A5 gene on chromosome 7q22. ICD10CM:H90.3 OMIM:613865 DFNB61 autosomal recessive deafness 61 DOID:0110513 autosomal recessive nonsyndromic deafness 61 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the SLC26A5 gene on chromosome 7q22. https://www.ncbi.nlm.nih.gov/pubmed/12719379 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 12p13.2-p11.23. ICD10CM:H90.3 OMIM:610143 DFNB62 autosomal recessive deafness 62 DOID:0110514 autosomal recessive nonsyndromic deafness 62 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 12p13.2-p11.23. https://www.ncbi.nlm.nih.gov/pubmed/16650082 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the LRTOMT gene on chromosome 11q13. ICD10CM:H90.3 OMIM:611451 DFNB63 autosomal recessive deafness 63 DOID:0110515 autosomal recessive nonsyndromic deafness 63 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the LRTOMT gene on chromosome 11q13. https://www.ncbi.nlm.nih.gov/pubmed/18953341 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 20q13.2-q13.3. ICD10CM:H90.3 OMIM:610248 DFNB65 autosomal recessive deafness 65 DOID:0110516 autosomal recessive nonsyndromic deafness 65 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 20q13.2-q13.3. http://www.ncbi.nlm.nih.gov/pubmed/16596430 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the DCDC2 gene on chromosome 6p22. ICD10CM:H90.3 OMIM:610212 DFNB66 autosomal recessive deafness 66 DOID:0110517 autosomal recessive nonsyndromic deafness 66 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the DCDC2 gene on chromosome 6p22. https://www.ncbi.nlm.nih.gov/pubmed/25601850 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the LHFPL5 gene on chromosome 6p21. ICD10CM:H90.3 OMIM:610265 DFNB67 autosomal recessive deafness 67 DOID:0110518 autosomal recessive nonsyndromic deafness 67 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the LHFPL5 gene on chromosome 6p21. https://www.ncbi.nlm.nih.gov/pubmed/16459341 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the S1PR2 gene on chromosome 19p13. ICD10CM:H90.3 OMIM:610419 DFNB68 autosomal recessive deafness 68 DOID:0110519 autosomal recessive nonsyndromic deafness 68 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the S1PR2 gene on chromosome 19p13. https://www.ncbi.nlm.nih.gov/pubmed/26805784 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TMC1 gene on chromosome 9q21. ICD10CM:H90.3 OMIM:600974 DFNB11 DFNB7 autosomal recessive deafness 7 DOID:0110520 autosomal recessive nonsyndromic deafness 7 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TMC1 gene on chromosome 9q21. https://www.ncbi.nlm.nih.gov/pubmed/11850618 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the PNPT1 gene on chromosome 2p16. ICD10CM:H90.3 OMIM:614934 DFNB70 autosomal recessive deafness 70 DOID:0110521 autosomal recessive nonsyndromic deafness 70 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the PNPT1 gene on chromosome 2p16. https://www.ncbi.nlm.nih.gov/pubmed/23084290 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 8p22-p21.3. ICD10CM:H90.3 OMIM:612789 DFNB71 autosomal recessive deafness 71 DOID:0110522 autosomal recessive nonsyndromic deafness 71 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 8p22-p21.3. https://www.ncbi.nlm.nih.gov/pubmed/19229252 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MSRB3 gene on chromosome 12q14. ICD10CM:H90.3 OMIM:613718 DFNB74 autosomal recessive deafness 74 DOID:0110523 autosomal recessive nonsyndromic deafness 74 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MSRB3 gene on chromosome 12q14. https://www.ncbi.nlm.nih.gov/pubmed/21185009 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with high frequency, progressive hearing loss and has_material_basis_in mutation in the SYNE4 gene on chromosome 19q13. ICD10CM:H90.3 OMIM:615540 DFNB76 autosomal recessive deafness 76 DOID:0110524 autosomal recessive nonsyndromic deafness 76 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with high frequency, progressive hearing loss and has_material_basis_in mutation in the SYNE4 gene on chromosome 19q13. https://www.ncbi.nlm.nih.gov/pubmed/23348741 An autosomal recessive nonsyndromic deafness that is characterized by postlingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the LOXHD1 gene on chromosome 18q21. ICD10CM:H90.3 OMIM:613079 DFNB77 autosomal recessive deafness 77 DOID:0110525 autosomal recessive nonsyndromic deafness 77 An autosomal recessive nonsyndromic deafness that is characterized by postlingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the LOXHD1 gene on chromosome 18q21. https://www.ncbi.nlm.nih.gov/pubmed/19732867 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TPRN gene on chromosome 9q34. ICD10CM:H90.3 OMIM:613307 DFNB79 autosomal recessive deafness 79 DOID:0110526 autosomal recessive nonsyndromic deafness 79 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TPRN gene on chromosome 9q34. https://www.ncbi.nlm.nih.gov/pubmed/20170899 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TMPRSS3 gene on chromosome 21q22. ICD10CM:H90.3 OMIM:601072 DFNB10 DFNB8 NRSD8 autosomal recessive deafness 10 autosomal recessive deafness 8 childhood-onset neurosensory autosomal recessive deafness 8 neurosensory nonsyndromic recessive deafness 8 DOID:0110527 autosomal recessive nonsyndromic deafness 8 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TMPRSS3 gene on chromosome 21q22. https://www.ncbi.nlm.nih.gov/pubmed/11137999 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 9p23-p21.2. ICD10CM:H90.3 OMIM:613685 DFNB83 autosomal recessive deafness 83 DOID:0110528 autosomal recessive nonsyndromic deafness 83 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the PTPRQ gene on chromosome 12q21. ICD10CM:H90.3 OMIM:613391 DFNB84A autosomal recessive deafness 84A autosomal recessive deafness 84A with vestibular dysfunction DOID:0110529 autosomal recessive nonsyndromic deafness 84A An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the PTPRQ gene on chromosome 12q21. https://www.ncbi.nlm.nih.gov/pubmed/20346435 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the OTOGL gene on chromosome 12q21. ICD10CM:H90.3 OMIM:614944 DFNB84B autosomal recessive deafness 84B DOID:0110530 autosomal recessive nonsyndromic deafness 84B An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the OTOGL gene on chromosome 12q21. https://www.ncbi.nlm.nih.gov/pubmed/23122586 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 17p12-q11.2. ICD10CM:H90.3 OMIM:613392 DFNB85 autosomal recessive deafness 85 DOID:0110531 autosomal recessive nonsyndromic deafness 85 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 17p12-q11.2. https://www.ncbi.nlm.nih.gov/pubmed/19888295 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TBC1D24 gene on chromosome 16p13. ICD10CM:H90.3 OMIM:614617 DFNB86 autosomal recessive deafness 86 DOID:0110532 autosomal recessive nonsyndromic deafness 86 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TBC1D24 gene on chromosome 16p13. https://www.ncbi.nlm.nih.gov/pubmed/24387994 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ELMOD3 gene on chromosome 2p11. ICD10CM:H90.3 OMIM:615429 DFNB88 autosomal recessive deafness 88 DOID:0110533 autosomal recessive nonsyndromic deafness 88 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ELMOD3 gene on chromosome 2p11. https://www.ncbi.nlm.nih.gov/pubmed/24039609 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the KARS gene on chromosome 16q23. ICD10CM:H90.3 OMIM:613916 DFNB89 autosomal recessive deafness 89 DOID:0110534 autosomal recessive nonsyndromic deafness 89 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the KARS gene on chromosome 16q23. https://www.ncbi.nlm.nih.gov/pubmed/23768514 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually severe to profound, stable hearing loss and has_material_basis_in mutation in the OTOF gene on chromosome 2p23. ICD10CM:H90.3 OMIM:601071 DFNB9 NRSD9 autosomal recessive deafness 9 neurosensory nonsyndromic recessive deafness 9 DOID:0110535 autosomal recessive nonsyndromic deafness 9 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually severe to profound, stable hearing loss and has_material_basis_in mutation in the OTOF gene on chromosome 2p23. https://www.ncbi.nlm.nih.gov/pubmed/10192385 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the SERPINB6 gene on chromosome 6p25. ICD10CM:H90.3 OMIM:613453 DFNB91 autosomal recessive deafness 91 DOID:0110536 autosomal recessive nonsyndromic deafness 91 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the SERPINB6 gene on chromosome 6p25. https://www.ncbi.nlm.nih.gov/pubmed/20451170 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CABP2 gene on chromosome 11q13. ICD10CM:H90.3 OMIM:614899 DFNB93 autosomal recessive deafness 93 DOID:0110537 autosomal recessive nonsyndromic deafness 93 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CABP2 gene on chromosome 11q13. https://www.ncbi.nlm.nih.gov/pubmed/22981119 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 1p36.31-p36.13. ICD10CM:H90.3 OMIM:614414 DFNB96 autosomal recessive deafness 96 DOID:0110538 autosomal recessive nonsyndromic deafness 96 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 1p36.31-p36.13. https://www.ncbi.nlm.nih.gov/pubmed/21937999 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MET gene on chromosome 7q31. ICD10CM:H90.3 OMIM:616705 DFNB97 autosomal recessive deafness 97 DOID:0110539 autosomal recessive nonsyndromic deafness 97 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MET gene on chromosome 7q31. https://www.ncbi.nlm.nih.gov/pubmed/25941349 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TSPEAR gene on chromosome 21q22. ICD10CM:H90.3 OMIM:614861 DFNB98 autosomal recessive deafness 98 DOID:0110540 autosomal recessive nonsyndromic deafness 98 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TSPEAR gene on chromosome 21q22. https://www.ncbi.nlm.nih.gov/pubmed/22678063 An autosomal dominant nonsyndromic deafness that is characterized by low frequency progressive hearing loss and has_material_basis_in mutation in the DIAPH1 gene on chromosome 5q31. ICD10CM:H90.3 OMIM:124900 DFNA1 Konigsmark syndrome LFHL1 autosomal dominant deafness 1 hereditary low frequency hearing loss 1 DOID:0110541 autosomal dominant nonsyndromic deafness 1 An autosomal dominant nonsyndromic deafness that is characterized by low frequency progressive hearing loss and has_material_basis_in mutation in the DIAPH1 gene on chromosome 5q31. https://www.ncbi.nlm.nih.gov/pubmed/9360932 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the third or forth decade of life with a flat or gently downsloping audioprofiles and has_material_basis_in mutation in the EYA4 gene on chromosome 6q23. ICD10CM:H90.3 OMIM:601316 DFNA10 autosomal dominant deafness 10 DOID:0110542 autosomal dominant nonsyndromic deafness 10 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the third or forth decade of life with a flat or gently downsloping audioprofiles and has_material_basis_in mutation in the EYA4 gene on chromosome 6q23. https://www.ncbi.nlm.nih.gov/pubmed/11159937 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life with a flat or gently downsloping audioprofiles and has_material_basis_in mutation in the MYO7A gene on chromosome 11q13. ICD10CM:H90.3 OMIM:601317 DFNA11 autosomal dominant deafness 11 DOID:0110543 autosomal dominant nonsyndromic deafness 11 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life with a flat or gently downsloping audioprofiles and has_material_basis_in mutation in the MYO7A gene on chromosome 11q13. https://www.ncbi.nlm.nih.gov/pubmed/9354784 An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and mid-frequency hearing loss and has_material_basis_in mutation in the TECTA gene on chromosome 11q23. ICD10CM:H90.3 OMIM:601543 DFNA12 DFNA8 autosomal dominant deafness 12 autosomal dominant deafness 8 DOID:0110544 autosomal dominant nonsyndromic deafness 12 An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and mid-frequency hearing loss and has_material_basis_in mutation in the TECTA gene on chromosome 11q23. https://www.ncbi.nlm.nih.gov/pubmed/9590290 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade of life with mid-frequency hearing loss and has_material_basis_in mutation in the COL11A2 gene on chromosome 6p21. ICD10CM:H90.3 OMIM:601868 DFNA13 autosomal dominant deafness 13 DOID:0110545 autosomal dominant nonsyndromic deafness 13 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade of life with mid-frequency hearing loss and has_material_basis_in mutation in the COL11A2 gene on chromosome 6p21. https://www.ncbi.nlm.nih.gov/pubmed/10581026 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the POU4F3 gene on chromosome 5q32. ICD10CM:H90.3 OMIM:602459 DFNA15 autosomal dominant deafness 15 DOID:0110546 autosomal dominant nonsyndromic deafness 15 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the POU4F3 gene on chromosome 5q32. https://www.ncbi.nlm.nih.gov/pubmed/9506947 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2q23-q24.3. ICD10CM:H90.3 OMIM:603964 DFNA16 autosomal dominant deafness 16 DOID:0110547 autosomal dominant nonsyndromic deafness 16 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2q23-q24.3. https://www.ncbi.nlm.nih.gov/pubmed/10364526 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the MYH9 gene on chromosome 22q12. ICD10CM:H90.3 OMIM:603622 DFNA17 autosomal dominant deafness 17 DOID:0110548 autosomal dominant nonsyndromic deafness 17 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the MYH9 gene on chromosome 22q12. https://www.ncbi.nlm.nih.gov/pubmed/11023810 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 3q22. ICD10CM:H90.3 OMIM:606012 DFNA18 autosomal dominant deafness 18 DOID:0110549 autosomal dominant nonsyndromic deafness 18 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 3q22. https://www.ncbi.nlm.nih.gov/pubmed/11313754 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the ACTG1 gene on chromosome 17q25. ICD10CM:H90.3 OMIM:604717 DFNA20 DFNA26 autosomal dominant deafness 20 DOID:0110550 autosomal dominant nonsyndromic deafness 20 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the ACTG1 gene on chromosome 17q25. https://www.ncbi.nlm.nih.gov/pubmed/13680526 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6p24.1-p22.3. ICD10CM:H90.3 OMIM:607017 DFNA21 autosomal dominant deafness 21 DOID:0110551 autosomal dominant nonsyndromic deafness 21 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6p24.1-p22.3. https://www.ncbi.nlm.nih.gov/pubmed/10764236 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the MYO6 gene on chromosome 6q14. ICD10CM:H90.3 OMIM:606346 DFNA22 autosomal dominant deafness 22 DOID:0110552 autosomal dominant nonsyndromic deafness 22 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the MYO6 gene on chromosome 6q14. https://www.ncbi.nlm.nih.gov/pubmed/11468689 An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the SIX1 gene on chromosome 14q23. ICD10CM:H90.3 OMIM:605192 DFNA23 autosomal dominant deafness 23 DOID:0110553 autosomal dominant nonsyndromic deafness 23 An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the SIX1 gene on chromosome 14q23. https://www.ncbi.nlm.nih.gov/pubmed/15141091 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q35-qter. ICD10CM:H90.3 OMIM:606282 DFNA24 autosomal dominant deafness 24 DOID:0110554 autosomal dominant nonsyndromic deafness 24 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q35-qter. https://www.ncbi.nlm.nih.gov/pubmed/10739769 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second-sixth decade of life with high frequency progressive hearing loss and has_material_basis_in mutation in the SLC17A8 gene on chromosome 12q23. ICD10CM:H90.3 OMIM:605583 DFNA25 autosomal dominant deafness 25 DOID:0110555 autosomal dominant nonsyndromic deafness 25 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second-sixth decade of life with high frequency progressive hearing loss and has_material_basis_in mutation in the SLC17A8 gene on chromosome 12q23. https://www.ncbi.nlm.nih.gov/pubmed/18674745 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q12-q13.1. ICD10CM:H90.3 OMIM:612431 DFNA27 autosomal dominant deafness 27 DOID:0110556 autosomal dominant nonsyndromic deafness 27 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q12-q13.1. https://www.ncbi.nlm.nih.gov/pubmed/18279434 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently downsloping audioprofiles and has_material_basis_in mutation in the GRHL2 gene on chromosome 8q22. ICD10CM:H90.3 OMIM:608641 DFNA28 autosomal dominant deafness 28 DOID:0110557 autosomal dominant nonsyndromic deafness 28 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently downsloping audioprofiles and has_material_basis_in mutation in the GRHL2 gene on chromosome 8q22. https://www.ncbi.nlm.nih.gov/pubmed/12393799 An autosomal dominant nonsyndromic deafness that is characterized by high frequency progressive hearing loss and has_material_basis_in mutation in the KCNQ4 gene on chromosome 1p34.2. ICD10CM:H90.3 OMIM:600101 DFNA2A autosomal dominant deafness 2A DOID:0110558 autosomal dominant nonsyndromic deafness 2A An autosomal dominant nonsyndromic deafness that is characterized by high frequency progressive hearing loss and has_material_basis_in mutation in the KCNQ4 gene on chromosome 1p34.2. https://www.ncbi.nlm.nih.gov/pubmed/10025409 An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the fourth decade of life with by high frequency progressive hearing loss and has_material_basis_in mutation in the GJB3 gene on chromosome 1p34.3. ICD10CM:H90.3 OMIM:612644 DFNA2B autosomal dominant deafness 2B DOID:0110559 autosomal dominant nonsyndromic deafness 2B An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the fourth decade of life with by high frequency progressive hearing loss and has_material_basis_in mutation in the GJB3 gene on chromosome 1p34.3. https://www.ncbi.nlm.nih.gov/pubmed/9843210 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 15q25-q26. ICD10CM:H90.3 OMIM:606451 DFNA30 autosomal dominant deafness 30 DOID:0110560 autosomal dominant nonsyndromic deafness 30 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 15q25-q26. https://www.ncbi.nlm.nih.gov/pubmed/11571554 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6p21.3. ICD10CM:H90.3 OMIM:608645 DFNA31 autosomal dominant deafness 31 DOID:0110561 autosomal dominant nonsyndromic deafness 31 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6p21.3. https://www.ncbi.nlm.nih.gov/pubmed/11559344 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 13q34. ICD10CM:H90.3 OMIM:614211 DFNA33 autosomal dominant deafness 33 DOID:0110562 autosomal dominant nonsyndromic deafness 33 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 13q34. https://www.ncbi.nlm.nih.gov/pubmed/19183916 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently downsloping audioprofiles and has_material_basis_in mutation in the TMC1 gene on chromosome 9q21. ICD10CM:H90.3 OMIM:606705 DFNA36 autosomal dominant deafness 36 DOID:0110563 autosomal dominant nonsyndromic deafness 36 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently downsloping audioprofiles and has_material_basis_in mutation in the TMC1 gene on chromosome 9q21. https://www.ncbi.nlm.nih.gov/pubmed/11850618 An autosomal dominant nonsyndromic deafness that is characterized by prelingual, high frequency hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12. ICD10CM:H90.3 OMIM:601544 DFNA3A autosomal dominant deafness 3A DOID:0110564 autosomal dominant nonsyndromic deafness 3A An autosomal dominant nonsyndromic deafness that is characterized by prelingual, high frequency hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12. https://www.ncbi.nlm.nih.gov/pubmed/9139825 An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the GJB6 gene on chromosome 13q12. ICD10CM:H90.3 OMIM:612643 DFNA3B autosomal dominant deafness 3B DOID:0110565 autosomal dominant nonsyndromic deafness 3B An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the GJB6 gene on chromosome 13q12. https://www.ncbi.nlm.nih.gov/pubmed/10471490 An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CRYM gene on chromosome 16p12. ICD10CM:H90.3 OMIM:616357 DFNA40 autosomal dominant deafness 40 DOID:0110566 autosomal dominant nonsyndromic deafness 40 An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CRYM gene on chromosome 16p12. https://www.ncbi.nlm.nih.gov/pubmed/12471561 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat progressive hearing loss and has_material_basis_in mutation in the P2RX2 gene on chromosome 12q24. ICD10CM:H90.3 OMIM:608224 DFNA41 autosomal dominant deafness 41 DOID:0110567 autosomal dominant nonsyndromic deafness 41 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p12. ICD10CM:H90.3 OMIM:608394 DFNA43 autosomal dominant deafness 43 DOID:0110568 autosomal dominant nonsyndromic deafness 43 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p12. https://www.ncbi.nlm.nih.gov/pubmed/12676899 An autosomal dominant nonsyndromic deafness that is characterized postlingual onset with low to mild frequency progressive hearing loss and has_material_basis_in mutation in the CCDC50 gene on chromosome 3q28. ICD10CM:H90.3 OMIM:607453 DFNA44 autosomal dominant deafness 44 DOID:0110569 autosomal dominant nonsyndromic deafness 44 An autosomal dominant nonsyndromic deafness that is characterized postlingual onset with low to mild frequency progressive hearing loss and has_material_basis_in mutation in the CCDC50 gene on chromosome 3q28. https://www.ncbi.nlm.nih.gov/pubmed/17503326 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 9p22-p21. ICD10CM:H90.3 OMIM:608652 DFNA47 autosomal dominant deafness 47 DOID:0110570 autosomal dominant nonsyndromic deafness 47 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 9p22-p21. https://www.ncbi.nlm.nih.gov/pubmed/12634859 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with progressive hearing loss and has_material_basis_in variation in the chromosome region 12q13-q14. ICD10CM:H90.3 OMIM:607841 DFNA48 autosomal dominant deafness 48 DOID:0110571 autosomal dominant nonsyndromic deafness 48 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with progressive hearing loss and has_material_basis_in variation in the chromosome region 12q13-q14. https://www.ncbi.nlm.nih.gov/pubmed/12736868 An autosomal dominant nonsyndromic deafness that is characterized by moderate loss for low and mid frequencies and mild loss for high frequencies and has_material_basis_in variation in the chromosome region 1q21-q23. ICD10CM:H90.3 OMIM:608372 DFNA49 autosomal dominant deafness 49 DOID:0110572 autosomal dominant nonsyndromic deafness 49 An autosomal dominant nonsyndromic deafness that is characterized by moderate loss for low and mid frequencies and mild loss for high frequencies and has_material_basis_in variation in the chromosome region 1q21-q23. https://www.ncbi.nlm.nih.gov/pubmed/14627674 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently sloping hearing audioprofiles and has_material_basis_in mutation in the MYH14 gene on chromosome 19q13.33. ICD10CM:H90.3 OMIM:600652 DFNA4A autosomal dominant deafness 4A DOID:0110573 autosomal dominant nonsyndromic deafness 4A An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently sloping hearing audioprofiles and has_material_basis_in mutation in the MYH14 gene on chromosome 19q13.33. https://www.ncbi.nlm.nih.gov/pubmed/15015131 An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CEACAM16 gene on chromosome 19q13. ICD10CM:H90.3 OMIM:614614 DFNA4B autosomal dominant deafness 4B DOID:0110574 autosomal dominant nonsyndromic deafness 4B An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CEACAM16 gene on chromosome 19q13. https://www.ncbi.nlm.nih.gov/pubmed/21368133 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life and high frequency progressive hearing loss and has_material_basis_in mutation in the DFNA5 gene on chromosome 7p15. ICD10CM:H90.3 OMIM:600994 DFNA5 autosomal dominant deafness 5 DOID:0110575 autosomal dominant nonsyndromic deafness 5 An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the second decade of life with flat progressive hearing loss and has_material_basis_in mutation in the MIRN96 gene on chromosome 7q32. ICD10CM:H90.3 OMIM:613074 DFNA50 autosomal dominant deafness 50 DOID:0110576 autosomal dominant nonsyndromic deafness 50 An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the second decade of life with flat progressive hearing loss and has_material_basis_in mutation in the MIRN96 gene on chromosome 7q32. https://www.ncbi.nlm.nih.gov/pubmed/19363479 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has_material_basis_in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes. ICD10CM:H90.3 OMIM:613558 DFNA51 autosomal dominant deafness 51 chromosome 9q21.11 duplication syndrome DOID:0110577 autosomal dominant nonsyndromic deafness 51 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has_material_basis_in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes. https://www.ncbi.nlm.nih.gov/pubmed/20602916 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 5q31.1-q32. ICD10CM:H90.3 OMIM:607683 DFNA52 autosomal dominant deafness 52 DOID:0110578 autosomal dominant nonsyndromic deafness 52 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 5q31.1-q32. https://www.ncbi.nlm.nih.gov/pubmed/18312703 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 14q11.2-q12. ICD10CM:H90.3 OMIM:609965 DFNA53 autosomal dominant deafness 53 DOID:0110579 autosomal dominant nonsyndromic deafness 53 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 14q11.2-q12. https://www.ncbi.nlm.nih.gov/pubmed/15958501 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 5q31. ICD10CM:H90.3 OMIM:615649 DFNA54 autosomal dominant deafness 54 DOID:0110580 autosomal dominant nonsyndromic deafness 54 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 5q31. https://www.ncbi.nlm.nih.gov/pubmed/15490091 An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the TNC gene on chromosome 9q33. ICD10CM:H90.3 OMIM:615629 DFNA56 autosomal dominant deafness 56 DOID:0110581 autosomal dominant nonsyndromic deafness 56 An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the TNC gene on chromosome 9q33. https://www.ncbi.nlm.nih.gov/pubmed/23936043 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p21-p12. ICD10CM:H90.3 OMIM:615654 DFNA58 autosomal dominant deafness 58 DOID:0110582 autosomal dominant nonsyndromic deafness 58 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p21-p12. https://www.ncbi.nlm.nih.gov/pubmed/19159392 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11p14.2-q12.3. ICD10CM:H90.3 OMIM:612642 DFNA59 autosomal dominant deafness 59 DOID:0110583 autosomal dominant nonsyndromic deafness 59 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11p14.2-q12.3. https://www.ncbi.nlm.nih.gov/pubmed/19030898 An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and low frequency progressive hearing loss and has_material_basis_in mutation in the WFS1 gene on chromosome 4p16. ICD10CM:H90.3 OMIM:600965 DFNA14 DFNA38 DFNA6 autosomal dominant deafness 14 autosomal dominant deafness 38 autosomal dominant deafness 6 DOID:0110584 autosomal dominant nonsyndromic deafness 6 An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and low frequency progressive hearing loss and has_material_basis_in mutation in the WFS1 gene on chromosome 4p16. https://www.ncbi.nlm.nih.gov/pubmed/11709537 https://www.ncbi.nlm.nih.gov/pubmed/11709538 An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the DIABLO gene on chromosome 12q24. ICD10CM:H90.3 OMIM:614152 DFNA64 autosomal dominant deafness 64 DOID:0110585 autosomal dominant nonsyndromic deafness 64 An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the DIABLO gene on chromosome 12q24. https://www.ncbi.nlm.nih.gov/pubmed/21722859 An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the TBC1D24 gene on chromosome 16p13. ICD10CM:H90.3 OMIM:616044 DFNA65 autosomal dominant deafness 65 DOID:0110586 autosomal dominant nonsyndromic deafness 65 An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the TBC1D24 gene on chromosome 16p13. https://www.ncbi.nlm.nih.gov/pubmed/24729539 https://www.ncbi.nlm.nih.gov/pubmed/24729547 An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CD164 gene on chromosome 6q21. ICD10CM:H90.3 OMIM:616969 DFNA66 autosomal dominant deafness 66 autosomal dominant nonsyndromic deafness 66 An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CD164 gene on chromosome 6q21. http://www.ncbi.nlm.nih.gov/pubmed/26197441 An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the OSBPL2 gene on chromosome 20q13. ICD10CM:H90.3 OMIM:616340 DFNA67 autosomal dominant deafness 67 DOID:0110588 autosomal dominant nonsyndromic deafness 67 An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the OSBPL2 gene on chromosome 20q13. https://www.ncbi.nlm.nih.gov/pubmed/25077649 An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the HOMER2 gene on chromosome 15q25. ICD10CM:H90.3 OMIM:616707 DFNA68 autosomal dominant deafness 68 DOID:0110589 autosomal dominant nonsyndromic deafness 68 An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the HOMER2 gene on chromosome 15q25. https://www.ncbi.nlm.nih.gov/pubmed/25816005 An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the KITLG gene on chromosome 12q21. ICD10CM:H90.3 OMIM:616697 DCUA DFNA69 autosomal dominant deafness 69 unilateral or asymmetric congenital deafness DOID:0110590 autosomal dominant nonsyndromic deafness 69 An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the KITLG gene on chromosome 12q21. https://www.ncbi.nlm.nih.gov/pubmed/26522471 An autosomal dominant nonsyndromic deafness that is characterized by progressive high-tone hearing loss and has_material_basis_in variation in the chromosome region 1q21-q23. ICD10CM:H90.3 OMIM:601412 DFNA7 autosomal dominant deafness 7 DOID:0110591 autosomal dominant nonsyndromic deafness 7 An autosomal dominant nonsyndromic deafness that is characterized by progressive high-tone hearing loss and has_material_basis_in variation in the chromosome region 1q21-q23. https://www.ncbi.nlm.nih.gov/pubmed/8842739 An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the MCM2 gene on chromosome 3q21. ICD10CM:H90.3 OMIM:616968 DFNA70 autosomal dominant deafness 70 DOID:0110592 autosomal dominant nonsyndromic deafness 70 An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the MCM2 gene on chromosome 3q21. https://www.ncbi.nlm.nih.gov/pubmed/26196677 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade with high frequency progressive hearing loss and has_material_basis_in mutation in the COCH gene on chromosome 14q12. ICD10CM:H90.3 OMIM:601369 DFNA9 autosomal dominant deafness 9 DOID:0110593 autosomal dominant nonsyndromic deafness 9 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade with high frequency progressive hearing loss and has_material_basis_in mutation in the COCH gene on chromosome 14q12. https://www.ncbi.nlm.nih.gov/pubmed/9806553 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect and in about half of patients situs inversus and has_material_basis_in compound heterozygous mutation in the DNAI1 gene on chromosome 9p13. ICD10CM:Q34.8 OMIM:244400 CILD1 primary ciliary dyskinesia 1 with or without situs inversus DOID:0110594 primary ciliary dyskinesia 1 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect and in about half of patients situs inversus and has_material_basis_in compound heterozygous mutation in the DNAI1 gene on chromosome 9p13. http://www.ncbi.nlm.nih.gov/pubmed/26998415 https://www.ncbi.nlm.nih.gov/pubmed/10577904 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance and ciliopathy with some type of intestinal atresia, variable ocular abnormalities, microcephaly, and has_material_basis_in compound heterozygous mutation in the CENPF gene on chromosome 1q41. ICD10CM:Q87.8 OMIM:243605 CILD31 apple peel syndrome with microcephaly and ocular anomalies jejunal atresia with microcephaly and ocular anomalies lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome primary ciliary dyskinesia 31 DOID:0110595 Stromme syndrome A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance and ciliopathy with some type of intestinal atresia, variable ocular abnormalities, microcephaly, and has_material_basis_in compound heterozygous mutation in the CENPF gene on chromosome 1q41. https://www.ncbi.nlm.nih.gov/pubmed/25564561 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with a missing Nexin link, infantile onset of chronic sinopulmonary infections, and has_material_basis_in homozygous mutation in the DRC1 gene on chromosome 2p23. ICD10CM:Q34.8 OMIM:615294 CILD21 primary ciliary dyskinesia 21 without situs inversus DOID:0110596 primary ciliary dyskinesia 21 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with a missing Nexin link, infantile onset of chronic sinopulmonary infections, and has_material_basis_in homozygous mutation in the DRC1 gene on chromosome 2p23. http://www.ncbi.nlm.nih.gov/pubmed/26998415 https://www.ncbi.nlm.nih.gov/pubmed/23354437 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent respiratory infections, persistent rhinosinusitis, otitis media, chronic cough, variable presence of situs abnormalities, and has_material_basis_in homozygous or compound heterozygous mutation in the ZMYND10 gene on chromosome 3p21. ICD10CM:Q34.8 OMIM:615444 CILD22 primary ciliary dyskinesia 22 with or without situs inversus DOID:0110597 primary ciliary dyskinesia 22 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent respiratory infections, persistent rhinosinusitis, otitis media, chronic cough, variable presence of situs abnormalities, and has_material_basis_in homozygous or compound heterozygous mutation in the ZMYND10 gene on chromosome 3p21. https://www.ncbi.nlm.nih.gov/pubmed/23891469 https://www.ncbi.nlm.nih.gov/pubmed/23891471 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect and axonemal disorganization, chronic upper and lower airway infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC39 gene on chromosome 3q26. ICD10CM:Q34.8 OMIM:613807 CILD14 primary ciliary dyskinesia 14 with or without situs inversus DOID:0110598 primary ciliary dyskinesia 14 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect and axonemal disorganization, chronic upper and lower airway infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC39 gene on chromosome 3q26. http://www.ncbi.nlm.nih.gov/pubmed/26998415 https://www.ncbi.nlm.nih.gov/pubmed/21131972 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, ciliary akinesia and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the DNAH5 gene on chromosome 5p15. ICD10CM:Q34.8 OMIM:608644 CILD3 primary ciliary dyskinesia 3 with or without situs inversus DOID:0110599 primary ciliary dyskinesia 3 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, ciliary akinesia and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the DNAH5 gene on chromosome 5p15. http://www.ncbi.nlm.nih.gov/pubmed/26998415 https://www.ncbi.nlm.nih.gov/pubmed/11788826 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with oligocilia and early childhood onset of recurrent respiratory infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCNO gene on chromosome 5p15. ICD10CM:Q34.8 OMIM:615872 CILD29 primary ciliary dyskinesia 29 without situs inversus DOID:0110600 primary ciliary dyskinesia 29 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with oligocilia and early childhood onset of recurrent respiratory infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCNO gene on chromosome 5p15. http://www.ncbi.nlm.nih.gov/pubmed/26998415 https://www.ncbi.nlm.nih.gov/pubmed/24747639 A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, and nasal symptoms, and has_material_basis_in homozygous mutation in the RSPH9 gene on chromosome 6p21. ICD10CM:Q34.8 OMIM:612650 CILD12 primary ciliary dyskinesia 12 without situs inversus DOID:0110601 primary ciliary dyskinesia 12 A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, and nasal symptoms, and has_material_basis_in homozygous mutation in the RSPH9 gene on chromosome 6p21. https://www.ncbi.nlm.nih.gov/pubmed/19200523 A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, nasal symptoms, ear obstruction with consequent hearing problems, low weight, and short stature, and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH4A gene on chromosome 6q22. ICD10CM:Q34.8 OMIM:612649 CILD11 primary ciliary dyskinesia 11 without situs inversus DOID:0110602 primary ciliary dyskinesia 11 A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, nasal symptoms, ear obstruction with consequent hearing problems, low weight, and short stature, and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH4A gene on chromosome 6q22. https://www.ncbi.nlm.nih.gov/pubmed/19200523 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with near absence of radial spokes, respiratory distress in term neonates, impaired mucociliary clearance, chronic respiratory infections, bronchiectasis, and infertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH3 gene on chromosome 6q25. ICD10CM:Q34.8 OMIM:616481 CILD32 primary ciliary dyskinesia 32 without situs inversus DOID:0110603 primary ciliary dyskinesia 32 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with near absence of radial spokes, respiratory distress in term neonates, impaired mucociliary clearance, chronic respiratory infections, bronchiectasis, and infertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH3 gene on chromosome 6q25. https://www.ncbi.nlm.nih.gov/pubmed/26073779 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, early infantile onset of recurrent sinopulmonary infections, male infertility, and variable occurence of situs inversus and has_material_basis_in homozygous mutation in the HEATR2 gene on chromosome 7p22. ICD10CM:Q34.8 OMIM:614874 CILD18 primary ciliary dyskinesia 18 with or without situs inversus DOID:0110604 primary ciliary dyskinesia 18 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, early infantile onset of recurrent sinopulmonary infections, male infertility, and variable occurence of situs inversus and has_material_basis_in homozygous mutation in the HEATR2 gene on chromosome 7p22. http://www.ncbi.nlm.nih.gov/pubmed/26998415 https://www.ncbi.nlm.nih.gov/pubmed/23040496 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with chronic respiratory infections, chronic sinusitis, recurrent bronchitis, and pneumonia beginning in infancy or early childhood and has_material_basis_in mutation in the DNAH11 gene on chromosome 7p21. ICD10CM:Q34.8 OMIM:611884 CILD7 primary ciliary dyskinesia 7 with or without situs inversus DOID:0110605 primary ciliary dyskinesia 7 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with chronic respiratory infections, chronic sinusitis, recurrent bronchitis, and pneumonia beginning in infancy or early childhood and has_material_basis_in mutation in the DNAH11 gene on chromosome 7p21. https://www.ncbi.nlm.nih.gov/pubmed/18022865 A primary ciliary dyskinesia that is characterized by partial outer dynein arm defect and has_material_basis_in mutation in the TXNDC3 gene on the chromosome 7p14.1. ICD10CM:Q34.8 OMIM:610852 CILD6 DOID:0110606 primary ciliary dyskinesia 6 A primary ciliary dyskinesia that is characterized by partial outer dynein arm defect and has_material_basis_in mutation in the TXNDC3 gene on the chromosome 7p14.1. http://www.ncbi.nlm.nih.gov/pubmed/26998415 https://www.ncbi.nlm.nih.gov/pubmed/17360648 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, and decreased fertility and has_material_basis_in homozygous or compound heterozygous mutation in the SPAG1 gene on chromosome 8q22. ICD10CM:Q34.8 OMIM:615505 CILD28 primary ciliary dyskinesia 28 with or without situs inversus DOID:0110607 primary ciliary dyskinesia 28 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, and decreased fertility and has_material_basis_in homozygous or compound heterozygous mutation in the SPAG1 gene on chromosome 8q22. http://www.ncbi.nlm.nih.gov/pubmed/26998415 https://www.ncbi.nlm.nih.gov/pubmed/24055112 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, chronic sinopulmonary infections, asthenospermia, and immotile cilia and has_material_basis_in homozygous mutation in the LRRC6 on chromosome 8q24. ICD10CM:Q34.8 OMIM:614935 CILD19 primary ciliary dyskinesia 19 with or without situs inversus DOID:0110608 primary ciliary dyskinesia 19 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, chronic sinopulmonary infections, asthenospermia, and immotile cilia and has_material_basis_in homozygous mutation in the LRRC6 on chromosome 8q24. http://www.ncbi.nlm.nih.gov/pubmed/26998415 https://www.ncbi.nlm.nih.gov/pubmed/23122589 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, respiratory distress and recurrent upper and lower airway infections, and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the ARMC4 gene on chromosome 10p. ICD10CM:Q34.8 OMIM:615451 CILD23 primary ciliary dyskinesia 23 with or without situs inversus DOID:0110609 primary ciliary dyskinesia 23 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, respiratory distress and recurrent upper and lower airway infections, and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the ARMC4 gene on chromosome 10p. http://www.ncbi.nlm.nih.gov/pubmed/26998415 https://www.ncbi.nlm.nih.gov/pubmed/23849778 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with childhood onset of recurrent sinopulmonary infections and male infertility and has_material_basis_in homozygous mutation in the DNAJB13 gene on chromosome 11q13. OMIM:617091 CILD34 primary ciliary dyskinesia 34 without situs inversus DOID:0110610 primary ciliary dyskinesia 34 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with childhood onset of recurrent sinopulmonary infections and male infertility and has_material_basis_in homozygous mutation in the DNAJB13 gene on chromosome 11q13. https://www.ncbi.nlm.nih.gov/pubmed/27486783 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis and has_material_basis_in homozygous mutation in the CCDC65 gene on chromosome 12q13. ICD10CM:Q34.8 OMIM:615504 CILD27 primary ciliary dyskinesia 27 without situs inversus DOID:0110611 primary ciliary dyskinesia 27 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis and has_material_basis_in homozygous mutation in the CCDC65 gene on chromosome 12q13. https://www.ncbi.nlm.nih.gov/pubmed/24094744 A primary ciliary dyskinesia that is characterized by outer and inner dynein arm absence, chronic otitis media, sinusitis, recurrent pneumonia and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the KTU gene on chromosome 14q21. ICD10CM:Q34.8 OMIM:612518 CILD10 primary ciliary dyskinesia 10 with or without situs inversus DOID:0110612 primary ciliary dyskinesia 10 A primary ciliary dyskinesia that is characterized by outer and inner dynein arm absence, chronic otitis media, sinusitis, recurrent pneumonia and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the KTU gene on chromosome 14q21. https://www.ncbi.nlm.nih.gov/pubmed/19052621 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absence of ciliary outer dynein arms, early infantile onset of respiratory distress, and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the DNAL1 gene on chromosome 14q24.3. ICD10CM:Q34.8 OMIM:614017 CILD16 primary ciliary dyskinesia 16 with or without situs inversus DOID:0110613 primary ciliary dyskinesia 16 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absence of ciliary outer dynein arms, early infantile onset of respiratory distress, and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the DNAL1 gene on chromosome 14q24.3. https://www.ncbi.nlm.nih.gov/pubmed/21496787 https://www.ncbi.nlm.nih.gov/pubmed/26998415 A primary ciliary dyskinesia that is characterized by partial absence of the inner dynein arms with variable occurrence of situs inversus and has_material_basis_in variation in the chromosome region 15q13.1-q15.1. ICD10CM:Q34.8 OMIM:608646 CILD4 primary ciliary dyskinesia 4 with or without situs inversus DOID:0110614 primary ciliary dyskinesia 4 A primary ciliary dyskinesia that is characterized by partial absence of the inner dynein arms with variable occurrence of situs inversus and has_material_basis_in variation in the chromosome region 15q13.1-q15.1. https://www.ncbi.nlm.nih.gov/pubmed/14985390 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, decreased fertility and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the DYX1C1 gene on chromosome 15q21. ICD10CM:Q34.8 OMIM:615482 CILD25 primary ciliary dyskinesia 25 with or without situs inversus DOID:0110615 primary ciliary dyskinesia 25 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, decreased fertility and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the DYX1C1 gene on chromosome 15q21. https://www.ncbi.nlm.nih.gov/pubmed/23872636 https://www.ncbi.nlm.nih.gov/pubmed/26998415 A primary ciliary dyskinesia that has_material_basis_in variation in the chromosome region 15q24-q25. ICD10CM:Q34.8 OMIM:612274 CILD8 primary ciliary dyskinesia 8 with or without situs inversus DOID:0110616 primary ciliary dyskinesia 8 A primary ciliary dyskinesia that has_material_basis_in variation in the chromosome region 15q24-q25. https://www.ncbi.nlm.nih.gov/pubmed/18270537 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with early onset of a progressive decline in lung function and has_material_basis_in homozygous mutation in the HYDIN gene on chromosome 16q22. ICD10CM:Q34.8 OMIM:608647 CILD5 primary ciliary dyskinesia 5 without situs inversus DOID:0110617 primary ciliary dyskinesia 5 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with early onset of a progressive decline in lung function and has_material_basis_in homozygous mutation in the HYDIN gene on chromosome 16q22. https://www.ncbi.nlm.nih.gov/pubmed/23022101 A primary ciliary dyskinesia that is characterized by inner and outer dynein arm defect, immotile cilia, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the LRRC50 gene on chromosome 16q23-q24. ICD10CM:Q34.8 OMIM:613193 CILD13 primary ciliary dyskinesia 13 with or without situs inversus DOID:0110618 primary ciliary dyskinesia 13 A primary ciliary dyskinesia that is characterized by inner and outer dynein arm defect, immotile cilia, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the LRRC50 gene on chromosome 16q23-q24. https://www.ncbi.nlm.nih.gov/pubmed/19944400 https://www.ncbi.nlm.nih.gov/pubmed/26998415 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the GAS8 gene on chromosome 16q24. ICD10CM:Q34.8 OMIM:616726 CILD33 primary ciliary dyskinesia 33 without situs inversus primary ciliary dyskinesia 33 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the GAS8 gene on chromosome 16q24. https://www.ncbi.nlm.nih.gov/pubmed/26387594 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absent outer dynein arms, immotile cilia, variable occurence of laterality defects and recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the TTC25 gene on chromosome 17q21. OMIM:617092 CILD35 primary ciliary dyskinesia 35 with or without situs inversus DOID:0110620 primary ciliary dyskinesia 35 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absent outer dynein arms, immotile cilia, variable occurence of laterality defects and recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the TTC25 gene on chromosome 17q21. https://www.ncbi.nlm.nih.gov/pubmed/27486780 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, early infantile onset of respiratory distress, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC103 gene on chromosome 17q21. ICD10CM:Q34.8 OMIM:614679 CILD17 primary ciliary dyskinesia 17 with or without situs inversus DOID:0110621 primary ciliary dyskinesia 17 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, early infantile onset of respiratory distress, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC103 gene on chromosome 17q21. https://www.ncbi.nlm.nih.gov/pubmed/22581229 https://www.ncbi.nlm.nih.gov/pubmed/26998415 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, neonatal respiratory distress, sinusitis, otitis, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAI2 gene on chromosome 17q25. ICD10CM:Q34.8 OMIM:612444 CILD9 primary ciliary dyskinesia 9 with or without situs inversus DOID:0110622 primary ciliary dyskinesia 9 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, neonatal respiratory distress, sinusitis, otitis, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAI2 gene on chromosome 17q25. https://www.ncbi.nlm.nih.gov/pubmed/18950741 https://www.ncbi.nlm.nih.gov/pubmed/26998415 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect, axonemal disorganization, recurrent respiratory infections and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC40 gene on chromosome 17q25. ICD10CM:Q34.8 OMIM:613808 CILD15 primary ciliary dyskinesia 15 with or without situs inversus DOID:0110623 primary ciliary dyskinesia 15 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect, axonemal disorganization, recurrent respiratory infections and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC40 gene on chromosome 17q25. https://www.ncbi.nlm.nih.gov/pubmed/21131974 https://www.ncbi.nlm.nih.gov/pubmed/26998415 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, nasal blockages, polyps, otitis media, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC151 gene on chromosome 19p13. ICD10CM:Q34.8 OMIM:616037 CILD30 primary ciliary dyskinesia 30 without situs inversus DOID:0110624 primary ciliary dyskinesia 30 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, nasal blockages, polyps, otitis media, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC151 gene on chromosome 19p13. https://www.ncbi.nlm.nih.gov/pubmed/25192045 https://www.ncbi.nlm.nih.gov/pubmed/26998415 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, infantile onset of chronic sinopulmonary infections, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC114 gene on chromosome 19q13. ICD10CM:Q34.8 OMIM:615067 CILD20 primary ciliary dyskinesia 20 with or without situs inversus DOID:0110625 primary ciliary dyskinesia 20 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, infantile onset of chronic sinopulmonary infections, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC114 gene on chromosome 19q13. https://www.ncbi.nlm.nih.gov/pubmed/23261303 https://www.ncbi.nlm.nih.gov/pubmed/26998415 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, otitis media, sinusitis, chronic cough, recurrent respiratory infections, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAAF3 gene on chromosome 19q13. ICD10CM:Q34.8 OMIM:606763 CILD2 primary ciliary dyskinesia 2 with or without situs inversus DOID:0110626 primary ciliary dyskinesia 2 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, otitis media, sinusitis, chronic cough, recurrent respiratory infections, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAAF3 gene on chromosome 19q13. https://www.ncbi.nlm.nih.gov/pubmed/22387996 https://www.ncbi.nlm.nih.gov/pubmed/26998415 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, neonatal respiratory distress, recurrent upper and lower airway disease, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the C21ORF59 gene on chromosome 21q22. ICD10CM:Q34.8 OMIM:615500 CILD26 primary ciliary dyskinesia 26 with or without situs inversus DOID:0110627 primary ciliary dyskinesia 26 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, neonatal respiratory distress, recurrent upper and lower airway disease, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the C21ORF59 gene on chromosome 21q22. https://www.ncbi.nlm.nih.gov/pubmed/24094744 https://www.ncbi.nlm.nih.gov/pubmed/26998415 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with sinopulmonary infection and subfertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH1 gene on chromosome 21q22. ICD10CM:Q34.8 OMIM:615481 CILD24 primary ciliary dyskinesia 24 without situs inversus DOID:0110628 primary ciliary dyskinesia 24 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with sinopulmonary infection and subfertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH1 gene on chromosome 21q22. https://www.ncbi.nlm.nih.gov/pubmed/23993197 An autosomal recessive disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the WFS1 gene on chromosome 4p16.1. ICD10CM:E13.8 OMIM:222300 WFS1 DOID:0110629 Wolfram syndrome 1 An autosomal recessive disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the WFS1 gene on chromosome 4p16.1. https://www.ncbi.nlm.nih.gov/pubmed/21538838 An autosomal recessive neurodegenerative disorder characterized by diabetes mellitus, high frequency sensorineural hearing loss, optic atrophy or neuropathy, and defective platelet aggregation resulting in peptic ulcer bleeding. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CISD2 gene on chromosome 4q24. ICD10CM:E13.8 OMIM:604928 WFS2 DOID:0110630 Wolfram syndrome 2 An autosomal recessive neurodegenerative disorder characterized by diabetes mellitus, high frequency sensorineural hearing loss, optic atrophy or neuropathy, and defective platelet aggregation resulting in peptic ulcer bleeding. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CISD2 gene on chromosome 4q24. https://www.ncbi.nlm.nih.gov/pubmed/25056293 A congenital muscular dystrophy characterized by nonprogressive myopathy resulting in an arthrogryposis syndrome. ICD10CM:M62.8 OMIM:253900 ORDO:1155 congenital muscular dystrophy producing arthrogryposis DOID:0110631 arthrogryposis due to muscular dystrophy A congenital muscular dystrophy characterized by nonprogressive myopathy resulting in an arthrogryposis syndrome. url:https://www.ncbi.nlm.nih.gov/pubmed/13942250 A congenital muscular dystrophy characterized by autosomal recessive inheritance of early-onset muscle wasting and intellectual disability with enlarged mitochondria that are more prevalent towards the periphery of the fibers that has_material_basis_in homozygous or compound heterozygous mutation in the CHKB gene on chromosome 22q13. ICD10CM:G71.2 OMIM:602541 ORDO:280671 congenital megaconial myopathy congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect congenital muscular dystrophy with mitochondrial structural abnormalities megaconial congenital muscular dystrophy DOID:0110632 megaconial type congenital muscular dystrophy A congenital muscular dystrophy characterized by autosomal recessive inheritance of early-onset muscle wasting and intellectual disability with enlarged mitochondria that are more prevalent towards the periphery of the fibers that has_material_basis_in homozygous or compound heterozygous mutation in the CHKB gene on chromosome 22q13. url:https://www.ncbi.nlm.nih.gov/pubmed/16371353 url:https://www.ncbi.nlm.nih.gov/pubmed/21665002 A congenital muscular dystrophy characterized by intrasarcoplasmic aggregates of desmin resulting in spinal rigidity, abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SEPN1 gene on chromosome 1p36. ICD10CM:G71.2 ICD10CM:G71.8 MESH:C535683 OMIM:602771 ORDO:324604 ORDO:84132 ORDO:97244 Eichsfeld type congenital muscular dystrophy MDRS1 RSMD1 RSS SEPN1-related myopathy classic MmD classic multiminicore disease classic multiminicore myopathy congenital merosin-positive muscular dystrophy with early spine rigidity desmin-related myopathy with Mallory bodies desmin-related myopathy with Mallory body-like inclusions early-onset desmin-related myopathy rigid spine syndrome severe classic form minicore myopathy severe classic form multicore myopathy severe classic form multiminicore disease DOID:0110633 rigid spine muscular dystrophy 1 A congenital muscular dystrophy characterized by intrasarcoplasmic aggregates of desmin resulting in spinal rigidity, abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SEPN1 gene on chromosome 1p36. url:https://www.ncbi.nlm.nih.gov/pubmed/11528383 url:https://www.ncbi.nlm.nih.gov/pubmed/12192640 url:https://www.ncbi.nlm.nih.gov/pubmed/15122708 A congenital muscular dystrophy characterized by autosomal recessive inheritance of proximal muscle weakness, muscle hypertrophy, and early respiratory failure that has_material_basis_in variation in the chromosome region 1q42. ICD10CM:G71.2 OMIM:604801 ORDO:98893 CMD1B MDC1B congenital muscular dystrophy type 1B DOID:0110634 congenital muscular dystrophy 1B A congenital muscular dystrophy characterized by autosomal recessive inheritance of proximal muscle weakness, muscle hypertrophy, and early respiratory failure that has_material_basis_in variation in the chromosome region 1q42. url:https://www.ncbi.nlm.nih.gov/pubmed/10677302 A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3. ICD10CM:G71.2 OMIM:606612 ORDO:52428 FKRP-related congenital muscular dystrophy MDC1C MDDGB5 congenital muscular dystrophy 1C muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 DOID:0110635 muscular dystrophy-dystroglycanopathy type B5 A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3. url:https://www.ncbi.nlm.nih.gov/pubmed/11592034 url:https://www.ncbi.nlm.nih.gov/pubmed/14652796 A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscle weakness that is apparent at birth or in the first 6 months of life and frequent development of periventricular white matter abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LAMA2 gene on chromosome 6q22. ICD10CM:G71.2 OMIM:607855 ORDO:258 UMLS_CUI:C1263858 CMD1A MDC1A Merosin-negative congenital muscular dystrophy congenital muscular dystrophy due to laminin alpha2 deficiency DOID:0110636 congenital merosin-deficient muscular dystrophy 1A A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscle weakness that is apparent at birth or in the first 6 months of life and frequent development of periventricular white matter abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LAMA2 gene on chromosome 6q22. url:https://www.ncbi.nlm.nih.gov/pubmed/24611677 url:https://www.ncbi.nlm.nih.gov/pubmed/7550355 A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12. ICD10CM:G71.2 OMIM:608840 ORDO:98894 MDC1D MDDGB6 congenital muscular dystrophy LARGE-related congenital muscular dystrophy type 1D muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12. url:https://www.ncbi.nlm.nih.gov/pubmed/12966029 url:https://www.ncbi.nlm.nih.gov/pubmed/19067344 A congenital muscular dystrophy characterized by autosomal recessive inheritance of generalized muscle weakness and hypotonia without arthrogryposis or central nervous system involvement that has_material_basis_in mutation in the chromosome region 4p16.3. OMIM:609456 DOID:0110638 congenital muscular dystrophy merosin-positive A congenital muscular dystrophy characterized by autosomal recessive inheritance of generalized muscle weakness and hypotonia without arthrogryposis or central nervous system involvement that has_material_basis_in mutation in the chromosome region 4p16.3. url:https://www.ncbi.nlm.nih.gov/pubmed/1483054 url:https://www.ncbi.nlm.nih.gov/pubmed/15886997 A congenital muscular dystrophy characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the ITGA7 gene on chromosome 12q13. ICD10CM:G71.2 OMIM:613204 ORDO:34520 congenital muscular dystrophy with ITGA7 deficiency congenital muscular dystrophy with integrin alpha-7 deficiency congenital myopathy due to integrin alpha-7 deficiency DOID:0110639 congenital muscular dystrophy due to integrin alpha-7 deficiency A congenital muscular dystrophy characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the ITGA7 gene on chromosome 12q13. url:https://www.ncbi.nlm.nih.gov/pubmed/9590299 A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22. ICD10CM:G71.2 OMIM:613205 ORDO:157973 L-CMD LMNA-related congenital muscular dystrophy congenital muscular dystrophy LMNA-related DOID:0110640 congenital muscular dystrophy due to LMNA mutation A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22. url:https://www.ncbi.nlm.nih.gov/pubmed/15148145 url:https://www.ncbi.nlm.nih.gov/pubmed/18551513 A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNQ1 gene on chromosome 11p15.5-p15.4. ICD10CM:I45.8 OMIM:192500 LQT1 ventricular fibrillation with prolonged QT interval DOID:0110644 long QT syndrome 1 A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNQ1 gene on chromosome 11p15.5-p15.4. url:https://www.ncbi.nlm.nih.gov/pubmed/17192539 A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNH2 gene on chromosome 7q36.1. ICD10CM:I45.8 OMIM:613688 LQT2 DOID:0110645 long QT syndrome 2 A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNH2 gene on chromosome 7q36.1. url:https://www.ncbi.nlm.nih.gov/pubmed/7889573 A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SCN5A gene on chromosome 3p22.2. ICD10CM:I45.8 OMIM:603830 LQT3 DOID:0110646 long QT syndrome 3 A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SCN5A gene on chromosome 3p22.2. url:https://www.ncbi.nlm.nih.gov/pubmed/8541846 A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNE1 gene on chromosome 21q22.12. ICD10CM:I45.8 OMIM:613695 LQT5 DOID:0110647 long QT syndrome 5 A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNE1 gene on chromosome 21q22.12. url:https://www.ncbi.nlm.nih.gov/pubmed/10973849 A long QT interval syndrome that has_material_basis_in dominant inheritance of mutation in the KCNE2 gene on chromosome 21q22.11. ICD10CM:I45.8 OMIM:613693 LQT6 DOID:0110648 long QT syndrome 6 A long QT interval syndrome that has_material_basis_in dominant inheritance of mutation in the KCNE2 gene on chromosome 21q22.11. url:https://www.ncbi.nlm.nih.gov/pubmed/10219239 DOID:0110649 obsolete Timothy syndrome true A long QT syndrome that has_material_basis_in mutation of the CAV3 gene on chromosome 3p25.3. ICD10CM:I45.8 OMIM:611818 LQT9 DOID:0110650 long QT syndrome 9 A long QT syndrome that has_material_basis_in mutation of the CAV3 gene on chromosome 3p25.3. url:https://www.ncbi.nlm.nih.gov/pubmed/17060380 A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SCN4B gene on chromosome 11q23.3. ICD10CM:I45.8 OMIM:611819 LQT10 DOID:0110651 long QT syndrome 10 A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SCN4B gene on chromosome 11q23.3. url:https://www.ncbi.nlm.nih.gov/pubmed/17592081 A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the AKAP9 gene on chromosome 7q21.2. ICD10CM:I45.8 OMIM:611820 LQT11 DOID:0110652 long QT syndrome 11 A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the AKAP9 gene on chromosome 7q21.2. url:https://www.ncbi.nlm.nih.gov/pubmed/18093912 A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SNTA1 gene on chromosome 20q11.21. ICD10CM:I45.8 OMIM:612955 LQT12 DOID:0110653 long QT syndrome 12 A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SNTA1 gene on chromosome 20q11.21. url:https://www.ncbi.nlm.nih.gov/pubmed/19684871 A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNJ5 gene on chromosome 11q24.3. ICD10CM:I45.8 OMIM:613485 LQT13 DOID:0110654 long QT syndrome 13 A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNJ5 gene on chromosome 11q24.3. url:https://www.ncbi.nlm.nih.gov/pubmed/20560207 A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the CALM1 gene on chromosome 14q32.11. ICD10CM:I45.8 OMIM:616247 LQT14 DOID:0110655 long QT syndrome 14 A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the CALM1 gene on chromosome 14q32.11. url:https://www.ncbi.nlm.nih.gov/pubmed/24076290 A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the CALM2 gene on chromosome 2p21. ICD10CM:I45.8 OMIM:616249 LQT15 DOID:0110656 long QT syndrome 15 A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the CALM2 gene on chromosome 2p21. url:https://www.ncbi.nlm.nih.gov/pubmed/23388215 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of prominent defects of both the pre- and postsynaptic regions and muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the AGRN gene on chromosome 1p. OMIM:615120 CMS8 congenital myasthenic syndrome 8 with pre- and postsynaptic defects congenital myasthenic syndrome due to agrin deficiency DOID:0110657 congenital myasthenic syndrome 8 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of prominent defects of both the pre- and postsynaptic regions and muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the AGRN gene on chromosome 1p. url:https://www.ncbi.nlm.nih.gov/pubmed/19631309 url:https://www.ncbi.nlm.nih.gov/pubmed/22205389 A congenital myasthenic syndrome characterized by onset of progressive fatigable proximal muscle weakness in childhood that has_material_basis_in compound heterozygous mutation in the ALG14 gene on chromosome 1p21. OMIM:616227 CMS15 congenital myasthenic syndrome 15 without tubular aggregates DOID:0110658 congenital myasthenic syndrome 15 A congenital myasthenic syndrome characterized by onset of progressive fatigable proximal muscle weakness in childhood that has_material_basis_in compound heterozygous mutation in the ALG14 gene on chromosome 1p21. url:https://www.ncbi.nlm.nih.gov/pubmed/23404334 A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic defects with onset of symptoms in early childhood that has_material_basis_in heterozygous mutation in the SYT2 gene on chromosome 1q32. OMIM:616040 CMS7 congenital myasthenic syndrome 7 presynaptic DOID:0110659 congenital myasthenic syndrome 7 A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic defects with onset of symptoms in early childhood that has_material_basis_in heterozygous mutation in the SYT2 gene on chromosome 1q32. url:https://www.ncbi.nlm.nih.gov/pubmed/25192047 url:https://www.ncbi.nlm.nih.gov/pubmed/25792100 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of onset of proximal muscle weakness in the first decade that generally responds well to acetylcholinesterase inhibitor treatment that has_material_basis_in homozygous or compound heterozygous mutation in the GFPT1 gene on chromosome 2p13. OMIM:610542 CMS12 congenital myasthenia 12 with tubular aggregates DOID:0110660 congenital myasthenic syndrome 12 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of onset of proximal muscle weakness in the first decade that generally responds well to acetylcholinesterase inhibitor treatment that has_material_basis_in homozygous or compound heterozygous mutation in the GFPT1 gene on chromosome 2p13. url:https://www.ncbi.nlm.nih.gov/pubmed/12467753 url:https://www.ncbi.nlm.nih.gov/pubmed/21310273 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of severe hypotonia associated with episodic apnea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC5A7 gene on chromosome 2q12. OMIM:617143 CMS20 congenital myasthenic syndrome 20 presynaptic DOID:0110661 congenital myasthenic syndrome 20 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of severe hypotonia associated with episodic apnea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC5A7 gene on chromosome 2q12. url:https://www.ncbi.nlm.nih.gov/pubmed/27569547 A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q. OMIM:608930 CMS1B congenital myasthenic syndrome 1B, fast-channel DOID:0110662 congenital myasthenic syndrome 1B A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q. url:https://www.ncbi.nlm.nih.gov/pubmed/10195214 url:https://www.ncbi.nlm.nih.gov/pubmed/15079006 url:https://www.ncbi.nlm.nih.gov/pubmed/25792100 A congenital myasthenic syndrome characterized by predominantly autosomal dominant inheritance of defects in postsynaptic neuromuscular junctions and early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q. OMIM:601462 CMS IIa CMS1A CMS2A congenital myasthenic syndrome 1A, slow-channel congenital myasthenic syndrome type IIa DOID:0110663 congenital myasthenic syndrome 1A A congenital myasthenic syndrome characterized by predominantly autosomal dominant inheritance of defects in postsynaptic neuromuscular junctions and early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q. url:https://www.ncbi.nlm.nih.gov/pubmed/25792100 url:https://www.ncbi.nlm.nih.gov/pubmed/7619526 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has_material_basis_in compound heterozygous mutation in the CHRND gene on chromosome 2q37. OMIM:616323 congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency DOID:0110664 congenital myasthenic syndrome 3C A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has_material_basis_in compound heterozygous mutation in the CHRND gene on chromosome 2q37. url:https://www.ncbi.nlm.nih.gov/pubmed/16916845 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has_material_basis_in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37. OMIM:616322 CMS3B congenital myasthenic syndrome 3B, fast-channel DOID:0110665 congenital myasthenic syndrome 3B A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has_material_basis_in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37. url:https://www.ncbi.nlm.nih.gov/pubmed/11435464 url:https://www.ncbi.nlm.nih.gov/pubmed/25792100 A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has_material_basis_in heterozygous mutation in the CHRND gene on chromosome 2q37. OMIM:616321 CMS3A congenital myasthenic syndrome 3A, slow-channel DOID:0110666 congenital myasthenic syndrome 3A A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has_material_basis_in heterozygous mutation in the CHRND gene on chromosome 2q37. url:https://www.ncbi.nlm.nih.gov/pubmed/11782989 url:https://www.ncbi.nlm.nih.gov/pubmed/25792100 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a defect within the synapse at the neuromuscular junction resulting in prolonged synaptic currents and action potentials that has_material_basis_in homozygous or compound heterozygous mutation in the COLQ gene on chromosome 3p25. OMIM:603034 CMS Ic CMS5 EAD Engel congenital myasthenic syndrome congenital myasthenic syndrome Engel type congenital myasthenic syndrome type Ic end plate acetylcholinesterase deficiency DOID:0110667 congenital myasthenic syndrome 5 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a defect within the synapse at the neuromuscular junction resulting in prolonged synaptic currents and action potentials that has_material_basis_in homozygous or compound heterozygous mutation in the COLQ gene on chromosome 3p25. url:https://www.ncbi.nlm.nih.gov/pubmed/25792100 A congenital myasthenic syndrome characterized by autosomal inheritance of a postsynaptic defect affecting endplate maintenance of the NMJ and development of limb-girdle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p. OMIM:254300 CMS Ib CMS10 CMS1B LGM congenital myasthenic syndrome type Ib familial limb-girdle myasthenia DOID:0110668 congenital myasthenic syndrome 10 A congenital myasthenic syndrome characterized by autosomal inheritance of a postsynaptic defect affecting endplate maintenance of the NMJ and development of limb-girdle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p. url:https://www.ncbi.nlm.nih.gov/pubmed/16917026 url:https://www.ncbi.nlm.nih.gov/pubmed/25792100 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of slowly progressive development of limb-girdle muscle weakness with onset in early childhood that has_material_basis_in homozygous mutation in the ALG2 gene on chromosome 9q22. OMIM:616228 CMS14 CMSTA3 congenital myasthenic syndrome 14, with tubular aggregates congenital myasthenic syndrome with tubular aggregates 3 DOID:0110669 congenital myasthenic syndrome 14 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of slowly progressive development of limb-girdle muscle weakness with onset in early childhood that has_material_basis_in homozygous mutation in the ALG2 gene on chromosome 9q22. url:https://www.ncbi.nlm.nih.gov/pubmed/23404334 url:https://www.ncbi.nlm.nih.gov/pubmed/24461433 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in postsynaptic neuromuscular junctions, reduced miniature endplate potential amplitude, proximal muscle weakness and episodic respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31. OMIM:616325 CMS9 congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency DOID:0110670 congenital myasthenic syndrome 9 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in postsynaptic neuromuscular junctions, reduced miniature endplate potential amplitude, proximal muscle weakness and episodic respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31. url:https://www.ncbi.nlm.nih.gov/pubmed/15496425 url:https://www.ncbi.nlm.nih.gov/pubmed/25792100 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a presynaptic defect resulting in onset of muscle weakeness in infancy or early childhood and a tendency to have sudden apneic episodes that has_material_basis_in homozygous or compound heterozygous mutation in the CHAT gene on chromosome 10q. OMIM:254210 CMS Ia2 CMS1A2 CMS6 CMSEA FIM FIMG2 congenital myasthenic syndrome 6, presynaptic congenital myasthenic syndrome type Ia2 congenital presynaptic myasthenic syndrome associated with episodic apnea familial infantile myasthenia familial infantile myasthenia gravis 2 DOID:0110671 congenital myasthenic syndrome 6 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a presynaptic defect resulting in onset of muscle weakeness in infancy or early childhood and a tendency to have sudden apneic episodes that has_material_basis_in homozygous or compound heterozygous mutation in the CHAT gene on chromosome 10q. url:https://www.ncbi.nlm.nih.gov/pubmed/11172068 url:https://www.ncbi.nlm.nih.gov/pubmed/12756141 url:https://www.ncbi.nlm.nih.gov/pubmed/25792100 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of hypotonia, apneas, and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the SLC18A3 gene on chromosome 10q11. OMIM:617239 CMS21 congenital myasthenic syndrome 21, presynaptic DOID:0110672 congenital myasthenic syndrome 21 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of hypotonia, apneas, and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the SLC18A3 gene on chromosome 10q11. url:https://www.ncbi.nlm.nih.gov/pubmed/20123977 url:https://www.ncbi.nlm.nih.gov/pubmed/27590285 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in the neuromuscular junction resulting in generalized muscle weakness, exercise intolerance, and respiratory insufficiency that has_material_basis_in homozygous mutation in the COL13A1 gene on chromosome 10q22. OMIM:616720 CMS19 DOID:0110673 congenital myasthenic syndrome 19 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in the neuromuscular junction resulting in generalized muscle weakness, exercise intolerance, and respiratory insufficiency that has_material_basis_in homozygous mutation in the COL13A1 gene on chromosome 10q22. url:https://www.ncbi.nlm.nih.gov/pubmed/26626625 A congenital myasthenic syndrome that has_material_basis_in compound heterozygous mutation in the LRP4 gene on chromosome 11p11. OMIM:616304 CMS17 DOID:0110674 congenital myasthenic syndrome 17 A congenital myasthenic syndrome that has_material_basis_in compound heterozygous mutation in the LRP4 gene on chromosome 11p11. url:https://www.ncbi.nlm.nih.gov/pubmed/24234652 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of low amplitude of the miniature endplate potential and current resulting from deficiency of AChR at the endplate that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11. OMIM:616326 CMS Ie CMS11 CMS1E congenital myasthenic syndrome 11 associated with acetylcholine receptor deficiency congenital myasthenic syndrome 1e DOID:0110675 congenital myasthenic syndrome 11 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of low amplitude of the miniature endplate potential and current resulting from deficiency of AChR at the endplate that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11. url:https://www.ncbi.nlm.nih.gov/pubmed/12651869 url:https://www.ncbi.nlm.nih.gov/pubmed/25792100 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of proximal muscle weakness, decremental response to repeated nerve stimulation in EMG studies, and favorable response to acetylcholinesterase inhibitors that has_material_basis_in compound heterozygous mutation in the DPAGT1 gene on chromosome 11q23. OMIM:614750 CMS13 CMSTA2 congenital myasthenic syndrome 13 with tubular aggregates congenital myasthenic syndrome with tubular aggregates 2 DOID:0110676 congenital myasthenic syndrome 13 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of proximal muscle weakness, decremental response to repeated nerve stimulation in EMG studies, and favorable response to acetylcholinesterase inhibitors that has_material_basis_in compound heterozygous mutation in the DPAGT1 gene on chromosome 11q23. url:https://www.ncbi.nlm.nih.gov/pubmed/16870884 url:https://www.ncbi.nlm.nih.gov/pubmed/22742743 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13. OMIM:616324 CMS4B congenital myasthenic syndrome 4B fast-channel DOID:0110677 congenital myasthenic syndrome 4B A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13. url:https://www.ncbi.nlm.nih.gov/pubmed/25792100 url:https://www.ncbi.nlm.nih.gov/pubmed/8755487 A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13. OMIM:605809 CMS Ia1 CMS1A1 CMS4A congenital myasthenic syndrome 4A slow-channel congenital myasthenic syndrometype Ia1 DOID:0110678 congenital myasthenic syndrome 4A A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13. url:https://www.ncbi.nlm.nih.gov/pubmed/12141316 url:https://www.ncbi.nlm.nih.gov/pubmed/25792100 url:https://www.ncbi.nlm.nih.gov/pubmed/7531341 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13. OMIM:608931 CMS Id CMS1D CMS4C FIM1 congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency congenital myasthenic syndrome type Id familial infantile myasthenia 1 DOID:0110679 congenital myasthenic syndrome 4C A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13. url:https://www.ncbi.nlm.nih.gov/pubmed/25792100 url:https://www.ncbi.nlm.nih.gov/pubmed/8957026 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in ompound heterozygous mutation in the CHRNB1 gene on chromosome 17p13. OMIM:616314 CMS2C congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency DOID:0110680 congenital myasthenic syndrome 2C A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in ompound heterozygous mutation in the CHRNB1 gene on chromosome 17p13. url:https://www.ncbi.nlm.nih.gov/pubmed/10562302 url:https://www.ncbi.nlm.nih.gov/pubmed/25792100 A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous mutation in the CHRNB1 gene on chromosome 17p13. OMIM:616313 CMS2A congenital myasthenic syndrome 2A slow-channel DOID:0110681 congenital myasthenic syndrome 2A A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous mutation in the CHRNB1 gene on chromosome 17p13. https://www.ncbi.nlm.nih.gov/pubmed/8872460 url:https://www.ncbi.nlm.nih.gov/pubmed/25792100 A congenital myasthenic syndrome that has_material_basis_in heterozygous or homozygous mutation in the SCN4A gene on chromosome 17q23 OMIM:614198 CMS16 congenital myasthenic syndrome acetazolamide-responsive DOID:0110682 congenital myasthenic syndrome 16 A congenital myasthenic syndrome that has_material_basis_in heterozygous or homozygous mutation in the SCN4A gene on chromosome 17q23 url:https://www.ncbi.nlm.nih.gov/pubmed/12766226 A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic neuromuscular junction defects, early-onset muscle weakness, easy fatigability, delayed psychomotor development and ataxia that has_material_basis_in heterozygous mutation in the SNAP25 gene on chromosome 20p11. OMIM:616330 CMS18 DOID:0110683 congenital myasthenic syndrome 18 A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic neuromuscular junction defects, early-onset muscle weakness, easy fatigability, delayed psychomotor development and ataxia that has_material_basis_in heterozygous mutation in the SNAP25 gene on chromosome 20p11. url:https://www.ncbi.nlm.nih.gov/pubmed/25381298 A hypotrichosis that has_material_basis_in a autosomal dominant mutation of APCDD1 on chromosome 18p11.22. OMIM:605389 Hhs Hts Hypt1 hereditary generalized hypotrichosis simplex DOID:0110698 hypotrichosis 1 A hypotrichosis that has_material_basis_in a autosomal dominant mutation of APCDD1 on chromosome 18p11.22. url:https://www.ncbi.nlm.nih.gov/pubmed/10878665 A hypotrichosis that has_material_basis_in a autosomal dominant mutation of CDSN on chromosome 6p21.33. OMIM:146520 Htss1 Hypt2 Spanish type hypotrichosis hypotrichosis simplex of the scalp 1 DOID:0110699 hypotrichosis 2 A hypotrichosis that has_material_basis_in a autosomal dominant mutation of CDSN on chromosome 6p21.33. url:https://www.ncbi.nlm.nih.gov/pubmed/12754508 A hypotrichosis that has_material_basis_in a autosomal dominant mutation of KRT74 on chromosome 12q13.13. OMIM:613981 Htss2 Hypt3 hypotrichosis simplex of the scalp 2 DOID:0110700 hypotrichosis 3 A hypotrichosis that has_material_basis_in a autosomal dominant mutation of KRT74 on chromosome 12q13.13. url:https://www.ncbi.nlm.nih.gov/pubmed/21188418 A hypotrichosis that has_material_basis_in a autosomal dominant mutation of HR on chromosome 8p21.3. OMIM:146550 Hypotrichosis, Marie Unna Type, 1 Hypt4 Marie Unna Hereditary Hypotrichosis 1 Muhh1 DOID:0110701 hypotrichosis 4 A hypotrichosis that has_material_basis_in a autosomal dominant mutation of HR on chromosome 8p21.3. url:https://www.ncbi.nlm.nih.gov/pubmed/19122663 A hypotrichosis that has_material_basis_in a mutation on chromosome 1p21.1-q21.3. OMIM:612841 Hypt5 Marie Unna Hereditary Hypotrichosis 2 Muhh2 DOID:0110702 hypotrichosis 5 A hypotrichosis that has_material_basis_in a mutation on chromosome 1p21.1-q21.3. url:https://www.ncbi.nlm.nih.gov/pubmed/16185270 A hypotrichosis that has_material_basis_in a autosomal recessive mutation of DSG4 on chromosome 18q12.1. OMIM:607903 Hypotrichosis, Localized, Autosomal Recessive 1 Hypt6 Lah1 Monilethrix-like hypotrichosis autosomal recessive localized hypotrichosis DOID:0110703 hypotrichosis 6 A hypotrichosis that has_material_basis_in a autosomal recessive mutation of DSG4 on chromosome 18q12.1. url:https://www.ncbi.nlm.nih.gov/pubmed/12891384 A hypotrichosis that has_material_basis_in a autosomal recessive mutation of LIPH on chromosome 3q27.2. OMIM:604379 Hypt7 Lah2 hypotrichosis, localized, autosomal recessive 2 total Mari type hypotrichosis, DOID:0110704 hypotrichosis 7 A hypotrichosis that has_material_basis_in a autosomal recessive mutation of LIPH on chromosome 3q27.2. url:https://www.ncbi.nlm.nih.gov/pubmed/20393562 A hypotrichosis has_material_basis_in a autosomal recessive mutation of LPAR6 on chromosome 13q14.2. OMIM:278150 Hypt8 Lah3 hypotrichosis, localized, autosomal recessive 3 DOID:0110705 hypotrichosis 8 A hypotrichosis has_material_basis_in a autosomal recessive mutation of LPAR6 on chromosome 13q14.2. url:https://www.ncbi.nlm.nih.gov/pubmed/18297072 A hypotrichosis that has_material_basis_in an autosomal recessive mutation on chromosome 10q11.23-q22.3. OMIM:614237 Hypt9 DOID:0110706 hypotrichosis 9 A hypotrichosis that has_material_basis_in an autosomal recessive mutation on chromosome 10q11.23-q22.3. url:https://www.ncbi.nlm.nih.gov/pubmed/20054564 A hypotrichosis that has_material_basis_in an autosomal recessive mutation on chromosome 7p22.3-p21.3. OMIM:614238 Hypt10 DOID:0110707 hypotrichosis 10 A hypotrichosis that has_material_basis_in an autosomal recessive mutation on chromosome 7p22.3-p21.3. url:https://www.ncbi.nlm.nih.gov/pubmed/20544222 A hypotrichosis that has_material_basis_in a autosomal dominant mutation of SNRPE on chromosome 1q32.1. OMIM:615059 Hypt11 DOID:0110708 hypotrichosis 11 A hypotrichosis that has_material_basis_in a autosomal dominant mutation of SNRPE on chromosome 1q32.1. url:https://www.ncbi.nlm.nih.gov/pubmed/23246290 A hypotrichosis that has_material_basis_in a autosomal dominant mutation of RPL21 on chromosome 13q12.2. OMIM:615885 Hypt12 DOID:0110709 hypotrichosis 12 A hypotrichosis that has_material_basis_in a autosomal dominant mutation of RPL21 on chromosome 13q12.2. url:https://www.ncbi.nlm.nih.gov/pubmed/21412954 A hypotrichosis that has_material_basis_in a autosomal dominant mutation of KRT71 on chromosome 12q13.13. OMIM:615896 Hypt13 hypotrichosis with woolly hair DOID:0110710 hypotrichosis 13 A hypotrichosis that has_material_basis_in a autosomal dominant mutation of KRT71 on chromosome 12q13.13. url:https://www.ncbi.nlm.nih.gov/pubmed/22592156 A hypotrichosis that has_material_basis_in a autosomal recessive mutation of CDH3 on chromosome 16q22.1. OMIM:601553 Hjmd hypotrichosis with cone-rod dystrophy DOID:0110711 congenital hypotrichosis with juvenile macular dystrophy A hypotrichosis that has_material_basis_in a autosomal recessive mutation of CDH3 on chromosome 16q22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/11544476 A hereditary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous or compound heterozygous mutation in the SAG gene on chromosome 2q37. OMIM:258100 CSNBO1 congenital stationary night blindness Oguchi type 1 DOID:0110712 Oguchi disease-1 A hereditary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous or compound heterozygous mutation in the SAG gene on chromosome 2q37. url:https://www.ncbi.nlm.nih.gov/pubmed/15234147 url:https://www.ncbi.nlm.nih.gov/pubmed/7670478 A hereditary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous mutation in the GRK1 gene on chromosome 13q34. OMIM:613411 CSNBO2 congenital stationary night blindness Oguchi type 2 DOID:0110713 Oguchi disease-2 A hereditary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous mutation in the GRK1 gene on chromosome 13q34. url:https://www.ncbi.nlm.nih.gov/pubmed/7670478 url:https://www.ncbi.nlm.nih.gov/pubmed/9020843 A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the GNAT1 gene on chromosome 3p21. OMIM:616389 CSNB1G congenital stationary night blindness type 1G DOID:0110714 congenital stationary night blindness 1G A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the GNAT1 gene on chromosome 3p21. url:https://www.ncbi.nlm.nih.gov/pubmed/22190596 A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the GNAT1 gene on chromosome 3p21. OMIM:610444 CSNBAD3 Nougaret type congenital stationary night blindness DOID:0110715 congenital stationary night blindness autosomal dominant 3 A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the GNAT1 gene on chromosome 3p21. url:https://www.ncbi.nlm.nih.gov/pubmed/8673138 A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP1 gene on chromosome 2q21. ICD10CM:Q87.0 OMIM:600118 Micro Syndrome 1 WARBM1 DOID:0110716 Warburg micro syndrome 1 A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP1 gene on chromosome 2q21. url:https://www.ncbi.nlm.nih.gov/pubmed/20512159 A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP2 gene on chromosome 1q41. ICD10CM:Q87.0 OMIM:614225 Micro Syndrome 2 WARBM2 DOID:0110717 Warburg micro syndrome 2 A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP2 gene on chromosome 1q41. url:https://www.ncbi.nlm.nih.gov/pubmed/20967465 A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB18 gene on chromosome 10p12. ICD10CM:Q87.0 OMIM:614222 Micro Syndrome 3 WARBM3 DOID:0110718 Warburg micro syndrome 3 A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB18 gene on chromosome 10p12. url:https://www.ncbi.nlm.nih.gov/pubmed/15216543 A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TBC1D20 gene on chromosome 20p13. ICD10CM:Q87.0 OMIM:615663 Micro Syndrome 4 WARBM4 DOID:0110719 Warburg micro syndrome 4 A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TBC1D20 gene on chromosome 20p13. url:https://www.ncbi.nlm.nih.gov/pubmed/24239381 A neuronal ceroid lipofuscinosis that is characterized by autosomal dominant inhetitance, onset of symptoms (psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline) in adulthood and has_material_basis_in heterozygous mutation in the DNAJC5 gene (611203) on chromosome 20q13. ICD10CM:E75.4 OMIM:162350 ORDO:228343 CLN4B disease autosomal dominant neuronal ceroid lipofuscinosis 4B neuronal ceroid lipofuscinosis 4 Parry type DOID:0110720 neuronal ceroid lipofuscinosis 4B A neuronal ceroid lipofuscinosis that is characterized by autosomal dominant inhetitance, onset of symptoms (psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline) in adulthood and has_material_basis_in heterozygous mutation in the DNAJC5 gene (611203) on chromosome 20q13. url:https://www.ncbi.nlm.nih.gov/pubmed/21820099 url:https://www.ncbi.nlm.nih.gov/pubmed/22073189 A neuronal ceroid lipofuscinosis that is characterized by variable age of onset of symptoms (progressive dementia, seizures, and progressive visual failure) and lipopigment pattern of granular osmiophilic deposits, and has_material_basis_in homozygous or compound heterozygous mutation in the PPT1 gene on chromosome 1p34. ICD10CM:E75.4 OMIM:256730 ORDO:228329 CLN1 neuronal ceroid lipofuscinosis 1 variable age of onset DOID:0110721 neuronal ceroid lipofuscinosis 1 A neuronal ceroid lipofuscinosis that is characterized by variable age of onset of symptoms (progressive dementia, seizures, and progressive visual failure) and lipopigment pattern of granular osmiophilic deposits, and has_material_basis_in homozygous or compound heterozygous mutation in the PPT1 gene on chromosome 1p34. url:https://www.ncbi.nlm.nih.gov/pubmed/7637805 A neuronal ceroid lipofuscinosis that is characterized by late-infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and has_material_basis_in homozygous or compound heterozygous mutation in the MFSD8 gene on chromosome 4q28. ICD10CM:E75.4 OMIM:610951 ORDO:228366 CLN7 DOID:0110722 neuronal ceroid lipofuscinosis 7 A neuronal ceroid lipofuscinosis that is characterized by late-infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and has_material_basis_in homozygous or compound heterozygous mutation in the MFSD8 gene on chromosome 4q28. url:https://www.ncbi.nlm.nih.gov/pubmed/17564970 A neuronal ceroid lipofuscinosis that is characterized by a late infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in homozygous or compound heterozygous mutation in the CLN8 gene on chromosome 8p23. ICD10CM:E75.4 OMIM:600143 ORDO:228354 CLN8 DOID:0110723 neuronal ceroid lipofuscinosis 8 A neuronal ceroid lipofuscinosis that is characterized by a late infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in homozygous or compound heterozygous mutation in the CLN8 gene on chromosome 8p23. url:https://www.ncbi.nlm.nih.gov/pubmed/15024724 url:https://www.ncbi.nlm.nih.gov/pubmed/15074367 url:https://www.ncbi.nlm.nih.gov/pubmed/15965709 A neuronal ceroid lipofuscinosis that is characterized by onset at 5 to 10 years of age of epilepsy followed by progressive mental retardation and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in a Finnish founder mutation in the CLN8 gene on chromosome 8p23. ICD10CM:E75.4 OMIM:610003 ORDO:1947 EPMR northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant progressive epilepsy with mental retardation, northern epilepsy progressive epilepsy-intellectual disability syndrome, Finnish type DOID:0110724 neuronal ceroid lipofuscinosis 8 northern epilepsy variant A neuronal ceroid lipofuscinosis that is characterized by onset at 5 to 10 years of age of epilepsy followed by progressive mental retardation and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in a Finnish founder mutation in the CLN8 gene on chromosome 8p23. url:https://www.ncbi.nlm.nih.gov/pubmed/8014963 url:https://www.ncbi.nlm.nih.gov/pubmed/8743986 A neuronal ceroid lipofuscinosis that has_material_basis_in homozygous or compound heterozygous mutation in the CTSD gene on chromosome 11p15. ICD10CM:E75.4 OMIM:610127 ORDO:228337 CLN10 Cathepsin D deficiency neuronal ceroid lipofuscinosis cathepsin D-deficient neuronal ceroid lipofuscinosis due to cathepsin D deficiency DOID:0110725 neuronal ceroid lipofuscinosis 10 A neuronal ceroid lipofuscinosis that has_material_basis_in homozygous or compound heterozygous mutation in the CTSD gene on chromosome 11p15. url:https://www.ncbi.nlm.nih.gov/pubmed/16685649 A neuronal ceroid lipofuscinosis that is characterized by 'curvilinear' profile lipopigment pattern and has_material_basis_in homozygous or compound heterozygous mutation in the TPP1 gene on chromosome 11p15. ICD10CM:E75.4 OMIM:204500 ORDO:228349 CLN2 neuronal ceroid lipofuscinosis 2 variable age at onset DOID:0110726 neuronal ceroid lipofuscinosis 2 A neuronal ceroid lipofuscinosis that is characterized by 'curvilinear' profile lipopigment pattern and has_material_basis_in homozygous or compound heterozygous mutation in the TPP1 gene on chromosome 11p15. url:https://www.ncbi.nlm.nih.gov/pubmed/15965709 url:https://www.ncbi.nlm.nih.gov/pubmed/18684116 A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death and has_material_basis_in homozygous or compound heterozygous mutation in the CTSF gene on chromosome 11q13. ICD10CM:E75.4 OMIM:615362 ORDO:352709 CLN13 neuronal ceroid lipofuscinosis 13 Kufs type DOID:0110727 neuronal ceroid lipofuscinosis 13 A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death and has_material_basis_in homozygous or compound heterozygous mutation in the CTSF gene on chromosome 11q13. url:https://www.ncbi.nlm.nih.gov/pubmed/23297359 A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has_material_basis_in homozygous or compound heterozygous mutation in the CLN5 gene on chromosome 13q22. ICD10CM:E75.4 OMIM:256731 ORDO:228360 CLN5 neuronal ceroid lipofuscinosis 5 variable age of onset DOID:0110728 neuronal ceroid lipofuscinosis 5 A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has_material_basis_in homozygous or compound heterozygous mutation in the CLN5 gene on chromosome 13q22. url:https://www.ncbi.nlm.nih.gov/pubmed/15965709 url:https://www.ncbi.nlm.nih.gov/pubmed/9662406 A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has_material_basis_in homozygous mutation in the CLN6 gene on chromosome 15q21-q23. ICD10CM:E75.4 OMIM:601780 ORDO:228363 CLN6 neuronal ceroid lipofuscinosis 6 variable age of onset DOID:0110729 neuronal ceroid lipofuscinosis 6 A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has_material_basis_in homozygous mutation in the CLN6 gene on chromosome 15q21-q23. url:https://www.ncbi.nlm.nih.gov/pubmed/15965709 url:https://www.ncbi.nlm.nih.gov/pubmed/15996215 A neuronal ceroid lipofuscinosis that is characterized by adult-onset of progressive dementia, seizures, and progressive visual failure and lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles and has_material_basis_in homozygous or compound heterozygous mutation in the CLN6 gene on chromosome 15q23. ICD10CM:E75.4 OMIM:204300 ORDO:228340 CLN4A autosomal recessive neuronal ceroid lipofuscinosis 4A DOID:0110730 neuronal ceroid lipofuscinosis 4A A neuronal ceroid lipofuscinosis that is characterized by adult-onset of progressive dementia, seizures, and progressive visual failure and lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles and has_material_basis_in homozygous or compound heterozygous mutation in the CLN6 gene on chromosome 15q23. url:https://www.ncbi.nlm.nih.gov/pubmed/15965709 url:https://www.ncbi.nlm.nih.gov/pubmed/21549341 A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive dementia, seizures, and progressive visual failure and an ultrastructural pattern of lipopigment with a 'fingerprint' profile and has_material_basis_in homozygous or compound heterozygous mutation in the CLN3 gene on chromosome 16p11. ICD10CM:E75.4 OMIM:204200 ORDO:228346 CLN3 DOID:0110731 neuronal ceroid lipofuscinosis 3 A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive dementia, seizures, and progressive visual failure and an ultrastructural pattern of lipopigment with a 'fingerprint' profile and has_material_basis_in homozygous or compound heterozygous mutation in the CLN3 gene on chromosome 16p11. url:https://www.ncbi.nlm.nih.gov/pubmed/15965709 url:https://www.ncbi.nlm.nih.gov/pubmed/7553855 A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy and has_material_basis_in homozygous mutation in the GRN gene on chromosome 17q. ICD10CM:E75.4 OMIM:614706 ORDO:314629 CLN11 DOID:0110732 neuronal ceroid lipofuscinosis 11 A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy and has_material_basis_in homozygous mutation in the GRN gene on chromosome 17q. url:https://www.ncbi.nlm.nih.gov/pubmed/22608501 A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive vision loss, progressive ataxia and seziures. ICD10CM:E75.4 OMIM:609055 ORDO:228357 CLN9 DOID:0110733 neuronal ceroid lipofuscinosis 9 A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive vision loss, progressive ataxia and seziures. url:https://www.ncbi.nlm.nih.gov/pubmed/15349861 A neurodegenerative disease characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia. ICD10CM:G23.0 MESH:C538421 OMIM:PS234200 ORDO:385 UMLS_CUI:C2931845 NBIA DOID:0110734 neurodegeneration with brain iron accumulation A neurodegenerative disease characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia. url:https://rarediseases.info.nih.gov/diseases/11899/index url:https://www.ncbi.nlm.nih.gov/pubmed/18981035 url:https://www.ninds.nih.gov/Disorders/All-Disorders/Neurodegeneration-Brain-Iron-Accumulation-Information-Page A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1. ICD10CM:G23.0 OMIM:256600 INAD1 Infantile Neuroaxonal Dystrophy 1 NBIA2a Neurodegeneration, Pla2g6-Associated Seitelberger Disease DOID:0110735 neurodegeneration with brain iron accumulation 2a A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1. url:https://www.ncbi.nlm.nih.gov/pubmed/18443314 A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1. ICD10CM:G23.0 OMIM:610217 NBIA2b Neuroaxonal Dystrophy, Atypical Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related DOID:0110736 neurodegeneration with brain iron accumulation 2b A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1. url:https://www.ncbi.nlm.nih.gov/pubmed/18799783 A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal dominant inheritance of mutation in the FTL gene on chromosome 19q13.33. ICD10CM:G23.0 MESH:C548080 OMIM:606159 ORDO:157846 UMLS_CUI:C1853578 Adult basal ganglia disease Ferritin-related neurodegeneration Hereditary ferritinopathy NBIA3 Neuroferritinopathy Neuroferritinopathy; Basal Ganglia Disease, Adult-Onset DOID:0110737 neurodegeneration with brain iron accumulation 3 A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal dominant inheritance of mutation in the FTL gene on chromosome 19q13.33. url:https://www.ncbi.nlm.nih.gov/pubmed/16116125 A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the C19orf12 gene on chromosome 19q12. ICD10CM:G23.0 OMIM:614298 ORDO:289560 MPAN Mitochondrial Protein-Associated Neurodegeneration NBIA due to C19orf12 mutation NBIA4 Neurodegeneration with brain iron accumulation due to C19orf12 mutation Neurodegeneration with brain iron accumulation type 4 DOID:0110738 neurodegeneration with brain iron accumulation 4 A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the C19orf12 gene on chromosome 19q12. url:https://www.ncbi.nlm.nih.gov/pubmed/23269600 A neurodegeneration with brain iron accumulation that has_material_basis_in X-linked dominant inheritance of mutation in the WDR45 gene on chromosome Xp11.23. ICD10CM:G23.0 OMIM:300894 ORDO:329284 BPAN Beta-Propeller Protein-Associated Neurodegeneration NBIA5 SENDA Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood DOID:0110739 neurodegeneration with brain iron accumulation 5 A neurodegeneration with brain iron accumulation that has_material_basis_in X-linked dominant inheritance of mutation in the WDR45 gene on chromosome Xp11.23. url:https://www.ncbi.nlm.nih.gov/pubmed/23176820 A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the COASY gene on chromosome 17q21.2. ICD10CM:G23.0 OMIM:615643 ORDO:397725 CoPAN NBIA6 Neurodegeneration with brain iron accumulation due to COASY mutation DOID:0110740 neurodegeneration with brain iron accumulation 6 A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the COASY gene on chromosome 17q21.2. url:https://www.ncbi.nlm.nih.gov/pubmed/24360804 A type 1 diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutation of the INS gene on chromosome 11p15.5. ICD10CM:E10 OMIM:125852 IDDM2 Insulin-Dependent Diabetes Mellitus 2 DOID:0110741 type 1 diabetes mellitus 2 A type 1 diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutation of the INS gene on chromosome 11p15.5. url:https://www.ncbi.nlm.nih.gov/pubmed/6363172 A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 15q26. ICD10CM:E10 OMIM:600318 IDDM3 Insulin-Dependent Diabetes Mellitus 3 DOID:0110742 type 1 diabetes mellitus 3 A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 15q26. url:https://www.ncbi.nlm.nih.gov/pubmed/7842018 A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 11q13. ICD10CM:E10 OMIM:600319 IDDM4 Insulin-Dependent Diabetes Mellitus 4 DOID:0110743 type 1 diabetes mellitus 4 A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 11q13. url:https://www.ncbi.nlm.nih.gov/pubmed/9683605 A type 1 diabetes mellitus that has_material_basis_in mutation of the SUMO4 gene on chromosome 6q25.1. ICD10CM:E10 OMIM:600320 IDDM5 Insulin-Dependent Diabetes Mellitus 5 DOID:0110744 type 1 diabetes mellitus 5 A type 1 diabetes mellitus that has_material_basis_in mutation of the SUMO4 gene on chromosome 6q25.1. url:https://www.ncbi.nlm.nih.gov/pubmed/15247916 A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 18q21. ICD10CM:E10 OMIM:601941 IDDM6 Insulin-Dependent Diabetes Mellitus 6 DOID:0110745 type 1 diabetes mellitus 6 A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 18q21. url:https://www.ncbi.nlm.nih.gov/pubmed/9215667 A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 2q31. ICD10CM:E10 OMIM:600321 IDDM7 Insulin-Dependent Diabetes Mellitus 7 DOID:0110746 type 1 diabetes mellitus 7 A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 2q31. url:https://www.ncbi.nlm.nih.gov/pubmed/7704030 A type 1 diabetes mellituss that has_material_basis_in mutation of the locus at chromosome 6q25-q27. ICD10CM:E10 OMIM:600883 IDDM8 Insulin-Dependent Diabetes Mellitus 8 DOID:0110747 type 1 diabetes mellitus 8 A type 1 diabetes mellituss that has_material_basis_in mutation of the locus at chromosome 6q25-q27. url:https://www.ncbi.nlm.nih.gov/pubmed/7573053 ICD10CM:E10 IDDM9 Insulin-Dependent Diabetes Mellitus 9 DOID:0110748 not in OMIM, missed that I shouldn't have added this one - Sue obsolete obsolete type 1 diabetes mellitus 9 true A type 1 diabetes mellitus that has_material_basis_in mutation of the IL2RA gene on chromosome 10p15.1. ICD10CM:E10 OMIM:601942 IDDM10 Insulin-Dependent Diabetes Mellitus 10 DOID:0110749 type 1 diabetes mellitus 10 A type 1 diabetes mellitus that has_material_basis_in mutation of the IL2RA gene on chromosome 10p15.1. https://www.ncbi.nlm.nih.gov/pubmed/8072542 A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 14q24.3-q31. ICD10CM:E10 OMIM:601208 IDDM11 Insulin-Dependent Diabetes Mellitus 11 DOID:0110750 type 1 diabetes mellitus 11 A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 14q24.3-q31. url:https://www.ncbi.nlm.nih.gov/pubmed/8617492 A type 1 diabetes mellitus that has_material_basis_in mutation of the CTLA4 gene on chromosome 2q33.2. ICD10CM:E10 OMIM:601388 IDDM12 Insulin-Dependent Diabetes Mellitus 12 DOID:0110751 type 1 diabetes mellitus 12 A type 1 diabetes mellitus that has_material_basis_in mutation of the CTLA4 gene on chromosome 2q33.2. url:https://www.ncbi.nlm.nih.gov/pubmed/8817351 A type 1 diabetes mellituss that has_material_basis_in mutation of the locus at chromosome 2q34. ICD10CM:E10 OMIM:601318 IDDM13 Insulin-Dependent Diabetes Mellitus 13 DOID:0110752 type 1 diabetes mellitus 13 A type 1 diabetes mellituss that has_material_basis_in mutation of the locus at chromosome 2q34. url:https://www.ncbi.nlm.nih.gov/pubmed/8650584 A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 6q21. ICD10CM:E10 OMIM:601666 IDDM15 Insulin-Dependent Diabetes Mellitus 15 DOID:0110753 type 1 diabetes mellitus 15 A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 6q21. url:https://www.ncbi.nlm.nih.gov/pubmed/8981961 A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 10q25. ICD10CM:E10 OMIM:603266 IDDM17 Insulin-Dependent Diabetes Mellitus 17 DOID:0110754 type 1 diabetes mellitus 17 A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 10q25. url:https://www.ncbi.nlm.nih.gov/pubmed/9788970 A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 5q31.1-q33.1. ICD10CM:E10 OMIM:605598 IDDM18 Insulin-Dependent Diabetes Mellitus 18 DOID:0110755 type 1 diabetes mellitus 18 A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 5q31.1-q33.1. url:https://www.ncbi.nlm.nih.gov/pubmed/11175794 A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 2q24.3. ICD10CM:E10 OMIM:610155 IDDM19 Insulin-Dependent Diabetes Mellitus 19 DOID:0110756 type 1 diabetes mellitus 19 A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 2q24.3. url:https://www.ncbi.nlm.nih.gov/pubmed/16699517 A type 1 diabetes mellitus that has_material_basis_in mutation of the HNF1A gene on chromosome 12q24.31. ICD10CM:E10 OMIM:612520 IDDM20 Insulin-Dependent Diabetes Mellitus 20 DOID:0110757 type 1 diabetes mellitus 20 A type 1 diabetes mellitus that has_material_basis_in mutation of the HNF1A gene on chromosome 12q24.31. url:https://www.ncbi.nlm.nih.gov/pubmed/9313763 A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 6q25. ICD10CM:E10 OMIM:612521 IDDM21 Insulin-Dependent Diabetes Mellitus 21 DOID:0110758 type 1 diabetes mellitus 21 A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 6q25. url:https://www.ncbi.nlm.nih.gov/pubmed/19073967 A type 1 diabetes mellitus that has_material_basis_in mutation of the CCR5 gene on chromosome 3p21.31. ICD10CM:E10 OMIM:612522 IDDM22 Insulin-Dependent Diabetes Mellitus 22 DOID:0110759 type 1 diabetes mellitus 22 A type 1 diabetes mellitus that has_material_basis_in mutation of the CCR5 gene on chromosome 3p21.31. url:https://www.ncbi.nlm.nih.gov/pubmed/19073967 A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 4q27. ICD10CM:E10 OMIM:612622 IDDM23 Insulin-Dependent Diabetes Mellitus 23 DOID:0110760 type 1 diabetes mellitus 23 A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 4q27. url:https://www.ncbi.nlm.nih.gov/pubmed/8072542 A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 10q23.31. ICD10CM:E10 OMIM:613006 IDDM24 Insulin-Dependent Diabetes Mellitus 24 DOID:0110761 type 1 diabetes mellitus 24 A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 10q23.31. url:https://www.ncbi.nlm.nih.gov/pubmed/19430480 obsolete hereditary spastic paraplegia 1 true A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF5A gene on chromosome 12q13. ICD10CM:G11.4 OMIM:604187 ORDO:100991 SPG10 autosomal dominant spastic paraplegia 10 autosomal dominant spastic paraplegia type 10 DOID:0110763 hereditary spastic paraplegia 10 A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF5A gene on chromosome 12q13. url:https://www.ncbi.nlm.nih.gov/pubmed/12355402 A hereditary spastic paraplegia that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21. ICD10CM:G11.4 OMIM:604360 ORDO:2822 HSP-TCC Nakamura-Osame syndrome SPG11 autosomal recessive spastic paraplegia 11 autosomal recessive spastic paraplegia complicated with thin corpus callosum autosomal recessive spastic paraplegia type 11 autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum spastic paraplegia-intellectual disability-thin corpus callosum syndrome DOID:0110764 hereditary spastic paraplegia 11 A hereditary spastic paraplegia that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21. url:https://www.ncbi.nlm.nih.gov/pubmed/17322883 A hereditary spastic paraplegia that has_material_basis_in mutation in the RTN2 gene on chromosome 19q13. ICD10CM:G11.4 OMIM:604805 ORDO:100993 SPG12 autosomal dominant spastic paraplegia 12 autosomal dominant spastic paraplegia type 12 DOID:0110765 hereditary spastic paraplegia 12 A hereditary spastic paraplegia that has_material_basis_in mutation in the RTN2 gene on chromosome 19q13. url:https://www.ncbi.nlm.nih.gov/pubmed/22232211 A hereditary spastic paraplegia that is characterized by a pure form of the disease with late onset and has_material_basis_in mutation in the HSPD1 on chromosome 2q33. ICD10CM:G11.4 OMIM:605280 ORDO:100994 SPG13 autosomal dominant spastic paraplegia 13 DOID:0110766 hereditary spastic paraplegia 13 A hereditary spastic paraplegia that is characterized by a pure form of the disease with late onset and has_material_basis_in mutation in the HSPD1 on chromosome 2q33. url:https://www.ncbi.nlm.nih.gov/pubmed/11898127 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 3q27-q28. ICD10CM:G11.4 OMIM:605229 ORDO:100995 SPG14 autosomal recessive spastic paraplegia 14 autosomal recessive spastic paraplegia type 14 DOID:0110767 hereditary spastic paraplegia 14 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 3q27-q28. url:https://www.ncbi.nlm.nih.gov/pubmed/10877981 A hereditary spastic paraplegia that has_material_basis_in mutation in the ZFYVE26 gene on chromosome 14q24.1. ICD10CM:G11.4 OMIM:270700 ORDO:100996 Kjellin syndrome SPG15 autosomal recessive spastic paraplegia 15 autosomal recessive spastic paraplegia type 15 hereditary spastic paraparesis type 15 spastic paraplegia and retinal degeneration spastic paraplegia-retinal degeneration syndrome DOID:0110768 hereditary spastic paraplegia 15 A hereditary spastic paraplegia that has_material_basis_in mutation in the ZFYVE26 gene on chromosome 14q24.1. url:https://www.ncbi.nlm.nih.gov/pubmed/18394578 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region Xq11.2. ICD10CM:G11.4 OMIM:300266 ORDO:100997 SPG16 X-linked spastic paraplegia 16 X-linked spastic paraplegia type 16 DOID:0110769 hereditary spastic paraplegia 16 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region Xq11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/9254866 A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12. ICD10CM:G11.4 OMIM:270685 ORDO:100998 SPG17 Silver spastic paraplegia syndrome Silver syndrome autosomal dominant spastic paraplegia 17 autosomal dominant spastic paraplegia type 17 dHMN5B distal hereditary motor neuropathy type 5B spastic paraplegia with amyotrophy of hands and feet spastic paraplegia-amyotrophy of hands and feet DOID:0110770 hereditary spastic paraplegia 17 A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12. url:https://www.ncbi.nlm.nih.gov/pubmed/14981520 A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN2 gene on chromosome 8p11. ICD10CM:G11.4 OMIM:611225 ORDO:209951 IDMDC SPG18 autosomal recessive spastic paraplegia 18 autosomal recessive spastic paraplegia type 18 intellectual disability, motor dysfunction and joint contractures DOID:0110771 hereditary spastic paraplegia 18 A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN2 gene on chromosome 8p11. url:https://www.ncbi.nlm.nih.gov/pubmed/21330303 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 9q. ICD10CM:G11.4 OMIM:607152 ORDO:100999 SPG19 autosomal dominant spastic paraplegia 19 autosomal dominant spastic paraplegia type 19 DOID:0110772 hereditary spastic paraplegia 19 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 9q. url:https://www.ncbi.nlm.nih.gov/pubmed/12112072 A hereditary spastic paraplegia that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22.2. ICD10CM:G11.4 OMIM:312920 ORDO:99015 SPG2 X-linked spastic paraplegia 2 spastic paraplegia type 2 DOID:0110773 hereditary spastic paraplegia 2 A hereditary spastic paraplegia that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22.2. url:https://www.ncbi.nlm.nih.gov/pubmed/8012387 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 1q24-q32. ICD10CM:G11.4 OMIM:270750 ORDO:101003 Lison syndrome SPG23 Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome spastic paraplegia 23 spastic paraplegia with pigmentary abnormalities DOID:0110774 hereditary spastic paraplegia 23 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 1q24-q32. url:https://www.ncbi.nlm.nih.gov/pubmed/14681889 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 13q14. ICD10CM:G11.4 OMIM:607584 ORDO:101004 SPG24 autosomal recessive spastic paraplegia 24 autosomal recessive spastic paraplegia type 24 DOID:0110775 hereditary spastic paraplegia 24 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 13q14. url:https://www.ncbi.nlm.nih.gov/pubmed/12499481 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 6q23-q24.1. ICD10CM:G11.4 OMIM:608220 ORDO:101005 SPG25 autosomal recessive spastic paraplegia 25 autosomal recessive spastic paraplegia type 25 DOID:0110776 hereditary spastic paraplegia 25 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 6q23-q24.1. url:https://www.ncbi.nlm.nih.gov/pubmed/12070243 A hereditary spastic paraplegia that has_material_basis_in mutation in the B4GALNT1 gene on chromosome 12q13. ICD10CM:G11.4 OMIM:609195 ORDO:101006 GM2 synthase deficiency SPG26 autosomal recessive spastic paraplegia 26 autosomal recessive spastic paraplegia type 26 DOID:0110777 hereditary spastic paraplegia 26 A hereditary spastic paraplegia that has_material_basis_in mutation in the B4GALNT1 gene on chromosome 12q13. url:https://www.ncbi.nlm.nih.gov/pubmed/23746551 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 10q22.1-q24.1. ICD10CM:G11.4 OMIM:609041 ORDO:101007 SPG27 autosomal recessive spastic paraplegia 27 autosomal recessive spastic paraplegia type 27 DOID:0110778 hereditary spastic paraplegia 27 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 10q22.1-q24.1. url:https://www.ncbi.nlm.nih.gov/pubmed/15455396 A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD1 gene on chromosome 14q22. ICD10CM:G11.4 OMIM:609340 ORDO:101008 SPG28 autosomal recessive spastic paraplegia 28 autosomal recessive spastic paraplegia type 28 DOID:0110779 hereditary spastic paraplegia 28 A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD1 gene on chromosome 14q22. url:https://www.ncbi.nlm.nih.gov/pubmed/23176821 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 1p31.1-p21.1. ICD10CM:G11.4 OMIM:609727 ORDO:101009 SPG29 autosomal dominant spastic paraplegia 29 DOID:0110780 hereditary spastic paraplegia 29 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 1p31.1-p21.1. url:https://www.ncbi.nlm.nih.gov/pubmed/16130112 A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF1A gene on chromosome 2q37. ICD10CM:G11.4 OMIM:610357 ORDO:101010 SPG30 autosomal recessive spastic paraplegia 30 autosomal spastic paraplegia type 30 DOID:0110781 hereditary spastic paraplegia 30 A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF1A gene on chromosome 2q37. url:https://www.ncbi.nlm.nih.gov/pubmed/21487076 A hereditary spastic paraplegia that has_material_basis_in mutation in the REEP1 gene on chromosome 2p11. ICD10CM:G11.4 OMIM:610250 ORDO:101011 SPG31 autosomal dominant spastic paraplegia 31 autosomal dominant spastic paraplegia type 31 DOID:0110782 hereditary spastic paraplegia 31 A hereditary spastic paraplegia that has_material_basis_in mutation in the REEP1 gene on chromosome 2p11. url:https://www.ncbi.nlm.nih.gov/pubmed/16826527 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 14q12-q21. ICD10CM:G11.4 OMIM:611252 ORDO:171622 SPG32 autosomal recessive spastic paraplegia 32 autosomal recessive spastic paraplegia type 32 DOID:0110783 hereditary spastic paraplegia 32 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 14q12-q21. url:https://www.ncbi.nlm.nih.gov/pubmed/17515546 A hereditary spastic paraplegia that has_material_basis_in mutation in the ZFYVE27 gene on chromosome 10q24. OMIM:610244 SPG33 autosomal dominant spastic paraplegia 33 DOID:0110784 hereditary spastic paraplegia 33 A hereditary spastic paraplegia that has_material_basis_in mutation in the ZFYVE27 gene on chromosome 10q24. url:https://www.ncbi.nlm.nih.gov/pubmed/16826525 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region Xq24-q25. ICD10CM:G11.4 OMIM:300750 ORDO:171607 SPG34 X-linked spastic paraplegia 34 X-linked spastic paraplegia type 34 DOID:0110785 hereditary spastic paraplegia 34 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region Xq24-q25. url:https://www.ncbi.nlm.nih.gov/pubmed/12210342 A hereditary spastic paraplegia that has_material_basis_in mutation in the FA2H gene on chromosome 16q23.1. ICD10CM:G11.4 OMIM:612319 ORDO:171629 FAHN SPG35 autosomal recessive spastic paraplegia 35 autosomal recessive spastic paraplegia type 35 fatty acid hydroxylase-associated neurodegeneration leukodystrophy, dysmyelinating and spastic paraparesis with or without dystonia DOID:0110786 hereditary spastic paraplegia 35 A hereditary spastic paraplegia that has_material_basis_in mutation in the FA2H gene on chromosome 16q23.1. url:https://www.ncbi.nlm.nih.gov/pubmed/19068277 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 12q23-q24. ICD10CM:G11.4 OMIM:613096 ORDO:320365 SPG36 autosomal dominant spastic paraplegia 36 autosomal dominant spastic paraplegia type 36 DOID:0110787 hereditary spastic paraplegia 36 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 12q23-q24. url:https://www.ncbi.nlm.nih.gov/pubmed/19357379 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 8p21.1-q13.3. ICD10CM:G11.4 OMIM:611945 ORDO:171612 SPG37 autosomal dominant spastic paraplegia 37 autosomal dominant spastic paraplegia type 37 DOID:0110788 hereditary spastic paraplegia 37 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 8p21.1-q13.3. url:https://www.ncbi.nlm.nih.gov/pubmed/17605047 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 4p16-p15. ICD10CM:G11.4 OMIM:612335 ORDO:171617 SPG38 autosomal dominant spastic paraplegia 38 autosomal dominant spastic paraplegia type 38 DOID:0110789 hereditary spastic paraplegia 38 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 4p16-p15. url:https://www.ncbi.nlm.nih.gov/pubmed/18401025 A hereditary spastic paraplegia that has_material_basis_in mutation in the PNPLA6 gene on chromosome 19p13. ICD10CM:G11.4 OMIM:612020 ORDO:139480 NTE-related motor neuron disorder NTEMND SPG39 autosomal recessive spastic paraplegia 39 autosomal recessive spastic paraplegia type 39 spastic paraplegia due to NTE mutation spastic paraplegia due to neuropathy target esterase mutation DOID:0110790 hereditary spastic paraplegia 39 A hereditary spastic paraplegia that has_material_basis_in mutation in the PNPLA6 gene on chromosome 19p13. url:https://www.ncbi.nlm.nih.gov/pubmed/18313024 A hereditary spastic paraplegia that is characterized by lower limb weakness and spasticity that is generally non-progressive or extremely slow and has_material_basis_in mutation in the ATL1 gene on chromosome 14q22. ICD10CM:G11.4 OMIM:182600 ORDO:100984 FSP1 SPG3A autosomal dominant familial spastic paraplegia 1 autosomal dominant spastic paraplegia 3 autosomal dominant spastic paraplegia type 3 strumpell disease DOID:0110791 hereditary spastic paraplegia 3A A hereditary spastic paraplegia that is characterized by lower limb weakness and spasticity that is generally non-progressive or extremely slow and has_material_basis_in mutation in the ATL1 gene on chromosome 14q22. url:https://www.ncbi.nlm.nih.gov/pubmed/11685207 A hereditary spastic paraplegia that is characterized by slowly progressive muscle weakness and spasticity and has_material_basis_in mutation in the SPAST gene on chromosome 2p22. ICD10CM:G11.4 OMIM:182601 ORDO:100985 SPG4 autosomal dominant spastic paraplegia 4 autosomal dominant spastic paraplegia type 4 DOID:0110792 hereditary spastic paraplegia 4 A hereditary spastic paraplegia that is characterized by slowly progressive muscle weakness and spasticity and has_material_basis_in mutation in the SPAST gene on chromosome 2p22. url:https://www.ncbi.nlm.nih.gov/pubmed/9302257 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 11p14.1-p11.2. ICD10CM:G11.4 OMIM:613364 ORDO:320355 SPG41 autosomal dominant spastic paraplegia 41 autosomal dominant spastic paraplegia type 41 DOID:0110793 hereditary spastic paraplegia 41 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 11p14.1-p11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/18364116 A hereditary spastic paraplegia that has_material_basis_in mutation in the SLC33A1 gene on chromosome 3q25.31. ICD10CM:G11.4 OMIM:612539 ORDO:171863 SPG42 autosomal dominant spastic paraplegia 42 autosomal dominant spastic paraplegia type 42 DOID:0110794 hereditary spastic paraplegia 42 A hereditary spastic paraplegia that has_material_basis_in mutation in the SLC33A1 gene on chromosome 3q25.31. url:https://www.ncbi.nlm.nih.gov/pubmed/19061983 A hereditary spastic paraplegia that has_material_basis_in mutation in the C19ORF12 gene on chromosome 19q12. ICD10CM:G11.4 OMIM:615043 ORDO:320370 SPG43 autosomal recessive spastic paraplegia 43 autosomal recessive spastic paraplegia type 43 DOID:0110795 hereditary spastic paraplegia 43 A hereditary spastic paraplegia that has_material_basis_in mutation in the C19ORF12 gene on chromosome 19q12. url:https://www.ncbi.nlm.nih.gov/pubmed/23857908 A hereditary spastic paraplegia that has_material_basis_in mutation in the GJC2 gene on chromosome 1q42. ICD10CM:G11.4 OMIM:613206 ORDO:320401 SPG44 autosomal recessive spastic paraplegia 44 DOID:0110796 hereditary spastic paraplegia 44 A hereditary spastic paraplegia that has_material_basis_in mutation in the GJC2 gene on chromosome 1q42. url:https://www.ncbi.nlm.nih.gov/pubmed/19056803 A hereditary spastic paraplegia that has_material_basis_in mutation in the NT5C2 gene on chromosome 10q24. ICD10CM:G11.4 OMIM:613162 ORDO:320396 SPG45 SPG65 autosomal recessive spastic paraplegia 45 autosomal recessive spastic paraplegia type 45 autosomal recessive spastic paraplegia type 65 DOID:0110797 hereditary spastic paraplegia 45 A hereditary spastic paraplegia that has_material_basis_in mutation in the NT5C2 gene on chromosome 10q24. url:https://www.ncbi.nlm.nih.gov/pubmed/24482476 A hereditary spastic paraplegia that has_material_basis_in mutation in the GBA2 gene on chromosome 9p. ICD10CM:G11.4 OMIM:614409 ORDO:320391 SPG46 autosomal recessive spastic paraplegia 46 autosomal recessive spastic paraplegia type 46 DOID:0110798 hereditary spastic paraplegia 46 A hereditary spastic paraplegia that has_material_basis_in mutation in the GBA2 gene on chromosome 9p. url:https://www.ncbi.nlm.nih.gov/pubmed/23332916 A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4B1 gene on chromosome 1p13. OMIM:614066 ORDO:280763 CPSQ5 SPG47 autosomal recessive spastic paraplegia 47 spastic quadriplegic cerebral palsy 5 DOID:0110799 hereditary spastic paraplegia 47 A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4B1 gene on chromosome 1p13. url:https://www.ncbi.nlm.nih.gov/pubmed/21620353 url:https://www.ncbi.nlm.nih.gov/pubmed/22290197 A hereditary spastic paraplegia that has_material_basis_in mutation in the AP5Z1 gene on chromosome 7p22.1. ICD10CM:G11.4 OMIM:613647 ORDO:306511 SPG48 autosomal recessive spastic paraplegia 48 autosomal recessive spastic paraplegia type 48 DOID:0110800 hereditary spastic paraplegia 48 A hereditary spastic paraplegia that has_material_basis_in mutation in the AP5Z1 gene on chromosome 7p22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/20613862 A hereditary spastic paraplegia that has_material_basis_in mutation in the TECPR2 gene on chromosome 14q32. ICD10CM:G11.4 OMIM:615031 ORDO:320385 SPG49 autosomal recessive spastic paraplegia 49 autosomal recessive spastic paraplegia type 49 DOID:0110801 hereditary spastic paraplegia 49 A hereditary spastic paraplegia that has_material_basis_in mutation in the TECPR2 gene on chromosome 14q32. url:https://www.ncbi.nlm.nih.gov/pubmed/23176824 A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4M1 gene on chromosome 7q22.1. OMIM:612936 ORDO:280763 CPSQ3 SPG50 autosomal recessive spastic paraplegia 50 spastic quadriplegic cerebral palsy 3 DOID:0110802 hereditary spastic paraplegia 50 A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4M1 gene on chromosome 7q22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/19559397 A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4E1 gene on chromosome 15q21. OMIM:613744 ORDO:280763 CPSQ4 SPG51 autosomal dominant spastic paraplegia 51 spastic quadriplegic cerebral palsy 4 DOID:0110803 hereditary spastic paraplegia 51 A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4E1 gene on chromosome 15q21. url:https://www.ncbi.nlm.nih.gov/pubmed/20972249 url:https://www.ncbi.nlm.nih.gov/pubmed/21620353 A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4S1 gene on chromosome 14q12. OMIM:614067 ORDO:280763 CPSQ6 SPG52 autosomal recessive spastic paraplegia 52 spastic quadriplegic cerebral palsy 6 DOID:0110804 hereditary spastic paraplegia 52 A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4S1 gene on chromosome 14q12. url:https://www.ncbi.nlm.nih.gov/pubmed/21620353 A hereditary spastic paraplegia that has_material_basis_in mutation in the VPS37A gene on chromosome 8p22. ICD10CM:G11.4 OMIM:614898 ORDO:319199 SPG53 autosomal recessive spastic paraplegia 53 autosomal recessive spastic paraplegia type 53 DOID:0110805 hereditary spastic paraplegia 53 A hereditary spastic paraplegia that has_material_basis_in mutation in the VPS37A gene on chromosome 8p22. url:https://www.ncbi.nlm.nih.gov/pubmed/22717650 A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD2 gene on chromosome 8p11. ICD10CM:G11.4 OMIM:615033 ORDO:320380 SPG54 autosomal recessive spastic paraplegia 54 autosomal recessive spastic paraplegia type 54 DOID:0110806 hereditary spastic paraplegia 54 A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD2 gene on chromosome 8p11. url:https://www.ncbi.nlm.nih.gov/pubmed/23176823 A hereditary spastic paraplegia that has_material_basis_in mutation in the C12ORF65 gene on chromosome 12q24. ICD10CM:G11.4 OMIM:615035 ORDO:320375 SPG55 autosomal recessive spastic paraplegia 55 autosomal recessive spastic paraplegia type 55 DOID:0110807 hereditary spastic paraplegia 55 A hereditary spastic paraplegia that has_material_basis_in mutation in the C12ORF65 gene on chromosome 12q24. url:https://www.ncbi.nlm.nih.gov/pubmed/23188110 A hereditary spastic paraplegia that has_material_basis_in mutation in the CYP2U1 gene on chromosome 4q25. ICD10CM:G11.4 OMIM:615030 ORDO:320411 SPG56 autosomal recessive spastic paraplegia 56 autosomal recessive spastic paraplegia type 56 DOID:0110808 hereditary spastic paraplegia 56 A hereditary spastic paraplegia that has_material_basis_in mutation in the CYP2U1 gene on chromosome 4q25. url:https://www.ncbi.nlm.nih.gov/pubmed/23176821 A hereditary spastic paraplegia that has_material_basis_in mutation in the TFG gene on chromosome 3q12. ICD10CM:G11.4 OMIM:615658 ORDO:431329 SPG57 autosomal recessive spastic paraplegia 57 autosomal recessive spastic paraplegia type 57 DOID:0110809 hereditary spastic paraplegia 57 A hereditary spastic paraplegia that has_material_basis_in mutation in the TFG gene on chromosome 3q12. url:https://www.ncbi.nlm.nih.gov/pubmed/23479643 A hereditary spastic paraplegia that is characterized by progressive muscle weakness and paraplegia and has_material_basis_in mutation in the CYP7B1 gene on chromosome 8q12. ICD10CM:G11.4 OMIM:270800 ORDO:100986 SPG5A autosomal recessive spastic paraplegia 5A autosomal recessive spastic paraplegia type 5A DOID:0110810 hereditary spastic paraplegia 5A A hereditary spastic paraplegia that is characterized by progressive muscle weakness and paraplegia and has_material_basis_in mutation in the CYP7B1 gene on chromosome 8q12. url:https://www.ncbi.nlm.nih.gov/pubmed/18252231 A hereditary spastic paraplegia that is usually characterized by rapidly progressive and severe spastic paraplegia and has_material_basis_in mutation in the NIPA1 gene on chromosome 15q11.2 ICD10CM:G11.4 OMIM:600363 ORDO:100988 FSP3 SPG6 autosomal dominant familial spastic paraplegia type 3 autosomal dominant spastic paraplegia 6 autosomal dominant spastic paraplegia type 6 DOID:0110811 hereditary spastic paraplegia 6 A hereditary spastic paraplegia that is usually characterized by rapidly progressive and severe spastic paraplegia and has_material_basis_in mutation in the NIPA1 gene on chromosome 15q11.2 url:https://www.ncbi.nlm.nih.gov/pubmed/14508710 A hereditary spastic paraplegia that has_material_basis_in mutation in the ARL6IP1 gene on chromosome 16p12. ICD10CM:G11.4 OMIM:615685 ORDO:401780 SPG61 autosomal recessive spastic paraplegia 61 autosomal recessive spastic paraplegia type 61 DOID:0110812 hereditary spastic paraplegia 61 A hereditary spastic paraplegia that has_material_basis_in mutation in the ARL6IP1 gene on chromosome 16p12. url:https://www.ncbi.nlm.nih.gov/pubmed/24482476 A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN1 gene on chromosome 10q24. ICD10CM:G11.4 OMIM:615681 ORDO:401785 SPG62 autosomal recessive spastic paraplegia 62 autosomal recessive spastic paraplegia type 62 DOID:0110813 hereditary spastic paraplegia 62 A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN1 gene on chromosome 10q24. url:https://www.ncbi.nlm.nih.gov/pubmed/24482476 A hereditary spastic paraplegia that has_material_basis_in mutation in the AMPD2 gene on chromosome 1p13. ICD10CM:G11.4 OMIM:615686 ORDO:401805 SPG63 autosomal recessive spastic paraplegia 63 spastic paraplegia 63 DOID:0110814 hereditary spastic paraplegia 63 A hereditary spastic paraplegia that has_material_basis_in mutation in the AMPD2 gene on chromosome 1p13. url:https://www.ncbi.nlm.nih.gov/pubmed/24482476 A hereditary spastic paraplegia that has_material_basis_in mutation in the ENTPD1 gene on chromosome 10q24. ICD10CM:G11.4 OMIM:615683 ORDO:401810 SPG64 autosomal recessive spastic paraplegia 64 autosomal recessive spastic paraplegia type 64 DOID:0110815 hereditary spastic paraplegia 64 A hereditary spastic paraplegia that has_material_basis_in mutation in the ENTPD1 gene on chromosome 10q24. url:https://www.ncbi.nlm.nih.gov/pubmed/24482476 A hereditary spastic paraplegia that is characterized by slowly progressive onset, usually between 18-60 years of age, and generally more severe spasticity and has_material_basis_in mutation in the SPG7 gene on chromosome 16q24. ICD10CM:G11.4 OMIM:607259 ORDO:99013 SPG7 autosomal recessive spastic paraplegia 7 spastic paraplegia type 7 DOID:0110816 hereditary spastic paraplegia 7 A hereditary spastic paraplegia that is characterized by slowly progressive onset, usually between 18-60 years of age, and generally more severe spasticity and has_material_basis_in mutation in the SPG7 gene on chromosome 16q24. url:https://www.ncbi.nlm.nih.gov/pubmed/9635427 A hereditary spastic paraplegia that has_material_basis_in mutation in the REEP2 gene on chromosome 5q31. ICD10CM:G11.4 OMIM:615625 ORDO:401849 SPG72 autosomal spastic paraplegia type 72 DOID:0110817 hereditary spastic paraplegia 72 A hereditary spastic paraplegia that has_material_basis_in mutation in the REEP2 gene on chromosome 5q31. url:https://www.ncbi.nlm.nih.gov/pubmed/24388663 A hereditary spastic paraplegia that has_material_basis_in mutation in the CPT1C gene on chromosome 19q13. ICD10CM:G11.4 OMIM:616282 ORDO:444099 SPG73 autosomal dominant spastic paraplegia 73 autosomal dominant spastic paraplegia type 73 DOID:0110818 hereditary spastic paraplegia 73 A hereditary spastic paraplegia that has_material_basis_in mutation in the CPT1C gene on chromosome 19q13. url:https://www.ncbi.nlm.nih.gov/pubmed/25751282 A hereditary spastic paraplegia that has_material_basis_in mutation in the IBA57 gene on chromosome 1q42. OMIM:616451 ORDO:468661 SPG74 autosomal recessive spastic paraplegia 74 DOID:0110819 hereditary spastic paraplegia 74 A hereditary spastic paraplegia that has_material_basis_in mutation in the IBA57 gene on chromosome 1q42. url:https://www.ncbi.nlm.nih.gov/pubmed/25609768 A hereditary spastic paraplegia that has_material_basis_in mutation in the MAG gene on chromosome 19q13. ICD10CM:G11.4 OMIM:616680 ORDO:459056 SPG75 autosomal recessive spastic paraplegia 75 autosomal recessive spastic paraplegia type 75 DOID:0110820 hereditary spastic paraplegia 75 A hereditary spastic paraplegia that has_material_basis_in mutation in the MAG gene on chromosome 19q13. url:https://www.ncbi.nlm.nih.gov/pubmed/24482476 A hereditary spastic paraplegia that has_material_basis_in mutation in the CAPN1 gene on chromosome 11q13. OMIM:616907 SPG76 autosomal recessive spastic paraplegia 76 DOID:0110821 hereditary spastic paraplegia 76 A hereditary spastic paraplegia that has_material_basis_in mutation in the CAPN1 gene on chromosome 11q13. url:https://www.ncbi.nlm.nih.gov/pubmed/27153400 A hereditary spastic paraplegia that has_material_basis_in mutation in the FARS2 gene on chromosome 6p25. ICD10CM:G11.4 OMIM:617046 ORDO:466722 SPG77 autosomal recessive spastic paraplegia 77 DOID:0110822 hereditary spastic paraplegia 77 A hereditary spastic paraplegia that has_material_basis_in mutation in the FARS2 gene on chromosome 6p25. url:https://www.ncbi.nlm.nih.gov/pubmed/26553276 A hereditary spastic paraplegia that has_material_basis_in mutation in the KIAA0196 gene on chromosome 8q24. ICD10CM:G11.4 OMIM:603563 ORDO:100989 SPG8 autosomal dominant spastic paraplegia 8 autosomal dominant spastic paraplegia type 8 DOID:0110823 hereditary spastic paraplegia 8 A hereditary spastic paraplegia that has_material_basis_in mutation in the KIAA0196 gene on chromosome 8q24. url:https://www.ncbi.nlm.nih.gov/pubmed/17160902 A hereditary spastic paraplegia that has_material_basis_in mutation in the ALDH18A1 gene on chromosome 10q24. ICD10CM:G11.4 OMIM:601162 ORDO:100990 ORDO:447753 AD-SPG9A Cataracts motor neuropathy-short stature-skeletal anomalies syndrome SPG9A autosomal dominant complex spastic paraplegia type 9A autosomal dominant spastic paraplegia 9A cataracts with motor neuronopathy, short stature and skeletal abnormalities spastic paraparesis with amyopathy, cataracts and gastroesophageal reflux spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome DOID:0110824 hereditary spastic paraplegia 9A A hereditary spastic paraplegia that has_material_basis_in mutation in the ALDH18A1 gene on chromosome 10q24. url:https://www.ncbi.nlm.nih.gov/pubmed/26026163 A hereditary spastic paraplegia that has_material_basis_in mutation in the ALDH18A1 gene on chromosome 10q24. ICD10CM:G11.4 OMIM:616586 ORDO:447760 SPG9B autosomal recessive complex spastic paraplegia type 9B autosomal recessive spastic paraplegia 9B DOID:0110825 hereditary spastic paraplegia 9B A hereditary spastic paraplegia that has_material_basis_in mutation in the ALDH18A1 gene on chromosome 10q24. url:https://www.ncbi.nlm.nih.gov/pubmed/26026163 An Usher syndrome characterized by profound congenital deafness, vestibular dysfunction and early development of retinitis pigmentosa. ICD10CM:H35.5 OMIM:276900 ORDO:231169 UMLS_CUI:C0339533 US1 USH1 DOID:0110826 Usher syndrome type 1 An Usher syndrome characterized by profound congenital deafness, vestibular dysfunction and early development of retinitis pigmentosa. url:https://ghr.nlm.nih.gov/condition/usher-syndrome url:https://www.ncbi.nlm.nih.gov/books/NBK1265/ url:https://www.ncbi.nlm.nih.gov/pubmed/2909824 An Usher syndrome characterized by mild to severe congenital hearing impairment, normal vestibular function and later development of retinitis pigmentosa. ICD10CM:H35.5 ORDO:231178 UMLS_CUI:C0339534 UMLS_CUI:C1568249 USH2 DOID:0110827 Usher syndrome type 2 An Usher syndrome characterized by mild to severe congenital hearing impairment, normal vestibular function and later development of retinitis pigmentosa. url:https://ghr.nlm.nih.gov/condition/usher-syndrome url:https://www.ncbi.nlm.nih.gov/books/NBK1341/ url:https://www.ncbi.nlm.nih.gov/pubmed/2909824 url:https://www.ncbi.nlm.nih.gov/pubmed/9624053 An Usher syndrome characterized by progressive hearing loss typically beginning in late childhood, variable vestibular dysfunction and onset of retinitis pigmentosa by the second decade of life. ICD10CM:H35.5 ORDO:231183 UMLS_CUI:C1568248 USH3 DOID:0110828 Usher syndrome type 3 An Usher syndrome characterized by progressive hearing loss typically beginning in late childhood, variable vestibular dysfunction and onset of retinitis pigmentosa by the second decade of life. url:https://ghr.nlm.nih.gov/condition/usher-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/2909824 url:https://www.ncbi.nlm.nih.gov/pubmed/8864816 An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has_material_basis_in mutation in the MTTS2 gene in the mitochondrial genome. ICD10CM:H35.5 OMIM:500004 ORDO:231183 UMLS_CUI:C1568248 DOID:0110829 Orphanet has this as part of USH3, reference listed refers to symptoms being almost identical to USH3 but inheritance pattern is different. I made this a child of Usher Syndrome but not USH3 - smb. retinitis pigmentosa-deafness syndrome An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has_material_basis_in mutation in the MTTS2 gene in the mitochondrial genome. url:https://www.ncbi.nlm.nih.gov/pubmed/10090882 An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the USH1C gene on chromosome 11p15. ICD10CM:H35.5 OMIM:276904 USH1C Usher syndrome type I Acadian variety Usher syndrome type IC DOID:0110830 Usher syndrome type 1C An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the USH1C gene on chromosome 11p15. url:https://www.ncbi.nlm.nih.gov/pubmed/10973247 An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the CDH23 gene on chromosome 10q22. ICD10CM:H35.5 OMIM:601067 USH1D Usher syndrome type ID DOID:0110831 Usher syndrome type 1D An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the CDH23 gene on chromosome 10q22. url:https://www.ncbi.nlm.nih.gov/pubmed/11138009 An Usher syndrome type 1 that has_material_basis_in caused by homozygous or compound heterozygous mutation in the PCDH15 gene on chromosome 10q. ICD10CM:H35.5 OMIM:602083 USH1F Usher syndrome type IF DOID:0110832 Usher syndrome type 1F An Usher syndrome type 1 that has_material_basis_in caused by homozygous or compound heterozygous mutation in the PCDH15 gene on chromosome 10q. url:https://www.ncbi.nlm.nih.gov/pubmed/11398101 An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 21q21. ICD10CM:H35.5 OMIM:602097 USH1E Usher syndrome type IE DOID:0110833 Usher syndrome type 1E An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 21q21. url:https://www.ncbi.nlm.nih.gov/pubmed/9002666 An Usher syndrome type 1 that has_material_basis_in caused by homozygous or compound heterozygous mutation in the USH1G gene on chromosome 17q25. ICD10CM:H35.5 OMIM:606943 USH1G Usher syndrome type IG DOID:0110834 Usher syndrome type 1G An Usher syndrome type 1 that has_material_basis_in caused by homozygous or compound heterozygous mutation in the USH1G gene on chromosome 17q25. url:https://www.ncbi.nlm.nih.gov/pubmed/12588794 An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 15q22-q23. ICD10CM:H35.5 OMIM:612632 USH1H Usher syndrome type IH DOID:0110835 Usher syndrome type 1H An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 15q22-q23. url:https://www.ncbi.nlm.nih.gov/pubmed/18505454 An Usher syndrome type 1 that has_material_basis_in caused by homozygous mutation in the CIB2 gene on chromosome 15q24. ICD10CM:H35.5 OMIM:614869 USH1J Usher syndrome type IJ DOID:0110836 Usher syndrome type 1J An Usher syndrome type 1 that has_material_basis_in caused by homozygous mutation in the CIB2 gene on chromosome 15q24. url:https://www.ncbi.nlm.nih.gov/pubmed/23023331 An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 10p11.21-q21.1. ICD10CM:H35.5 OMIM:614990 USH1K Usher syndrome type IK DOID:0110837 Usher syndrome type 1K An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 10p11.21-q21.1. url:https://www.ncbi.nlm.nih.gov/pubmed/22718019 An Usher syndrome type 2 characterized by moderate to severe sensorineural hearing loss, mainly affecting perception of high frequency sounds and progressive retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the USH2A gene on chromosome 1q41. ICD10CM:H35.5 OMIM:276901 USH2A Usher syndrome type IIA DOID:0110838 Usher syndrome type 2A An Usher syndrome type 2 characterized by moderate to severe sensorineural hearing loss, mainly affecting perception of high frequency sounds and progressive retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the USH2A gene on chromosome 1q41. url:https://www.ncbi.nlm.nih.gov/pubmed/9624053 An Usher syndrome type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the ADGRV1 gene on chromosome 5q14. ICD10CM:H35.5 OMIM:605472 USH2C Usher syndrome type IIC DOID:0110839 Usher syndrome type 2C An Usher syndrome type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the ADGRV1 gene on chromosome 5q14. url:https://www.ncbi.nlm.nih.gov/pubmed/14740321 An Usher syndrome type 2 that has_material_basis_in by homozygous or compound heterozygous mutation in the WHRN gene on chromosome 9q32. ICD10CM:H35.5 OMIM:611383 USH2D Usher syndrome type IID DOID:0110840 Usher syndrome type 2D An Usher syndrome type 2 that has_material_basis_in by homozygous or compound heterozygous mutation in the WHRN gene on chromosome 9q32. url:https://www.ncbi.nlm.nih.gov/pubmed/17171570 An Usher syndrome type 3 that has_material_basis_in homozygous or compound heterozygous mutation in the CLRN1 gene on chromosome 3q25. ICD10CM:H35.5 OMIM:276902 USH3A Usher syndrome type IIIA DOID:0110841 Usher syndrome type 3A An Usher syndrome type 3 that has_material_basis_in homozygous or compound heterozygous mutation in the CLRN1 gene on chromosome 3q25. url:https://www.ncbi.nlm.nih.gov/pubmed/11524702 An Usher syndrome type 3 that has_material_basis_in homozygous mutation in the HARS gene on chromosome 5q31. ICD10CM:H35.5 OMIM:614504 USH3B Usher syndrome type IIIB DOID:0110842 Usher syndrome type 3B An Usher syndrome type 3 that has_material_basis_in homozygous mutation in the HARS gene on chromosome 5q31. url:https://www.ncbi.nlm.nih.gov/pubmed/22279524 A xeroderma pigmentosum characterized by involvement of the central and peripheral nervous systems in addition to cutaneous lesions that has_material_basis_in caused by homozygous or compound heterozygous mutation in the XPA gene on chromosome 9q22. ICD10CM:Q82.1 OMIM:278700 XP group A XP1 XPA xeroderma pigmentosum 1 xeroderma pigmentosum complementation group A DOID:0110843 xeroderma pigmentosum group A A xeroderma pigmentosum characterized by involvement of the central and peripheral nervous systems in addition to cutaneous lesions that has_material_basis_in caused by homozygous or compound heterozygous mutation in the XPA gene on chromosome 9q22. url:https://www.ncbi.nlm.nih.gov/pubmed/2168777 url:https://www.ncbi.nlm.nih.gov/pubmed/2234061 A xeroderma pigmentosum characterized by increased propensity to develop malignant melanoma that has_material_basis_in mutation in the XPC gene on chromosome 3p25. ICD10CM:Q82.1 OMIM:278720 XP group C XP3 XPC XPCC xeroderma pigmentosum III DOID:0110844 xeroderma pigmentosum group C A xeroderma pigmentosum characterized by increased propensity to develop malignant melanoma that has_material_basis_in mutation in the XPC gene on chromosome 3p25. url:https://www.ncbi.nlm.nih.gov/pubmed/6696469 url:https://www.ncbi.nlm.nih.gov/pubmed/8298653 A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the excision repair gene ERCC2 on chromosome 19q13. ICD10CM:Q82.1 OMIM:278730 XP group D XP group H XP4 XP8 XPD XPDC XPH xeroderma pigmentosum IV xeroderma pigmentosum VIII DOID:0110845 xeroderma pigmentosum group D A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the excision repair gene ERCC2 on chromosome 19q13. url:https://www.ncbi.nlm.nih.gov/pubmed/7849702 A xeroderma pigmentosum characterized by a mild phenotype that has_material_basis_in homozygous mutation in the DDB2 gene on chromosome 11p11. ICD10CM:Q82.1 OMIM:278740 XP group E XP5 XPE xeroderma pigmentosum V DOID:0110846 xeroderma pigmentosum group E A xeroderma pigmentosum characterized by a mild phenotype that has_material_basis_in homozygous mutation in the DDB2 gene on chromosome 11p11. url:https://www.ncbi.nlm.nih.gov/pubmed/3339259 url:https://www.ncbi.nlm.nih.gov/pubmed/8798680 A xeroderma pigmentosum characterized by normal DNA excision repair, but defective postreplication repair that has_material_basis_in mutations in the POLH gene on chromosome 6p21.1. ICD10CM:Q82.1 OMIM:278750 XPV photosensitivity with defective DNA synthesis xeroderma pigmentosum with normal DNA repair rates DOID:0110847 xeroderma pigmentosum variant type A xeroderma pigmentosum characterized by normal DNA excision repair, but defective postreplication repair that has_material_basis_in mutations in the POLH gene on chromosome 6p21.1. url:https://www.ncbi.nlm.nih.gov/pubmed/10385124 url:https://www.ncbi.nlm.nih.gov/pubmed/1054497 A xeroderma pigmentosum characterized by milder symptoms and later onset of skin cancer that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC4 gene on chromosome 16p13. ICD10CM:Q82.1 OMIM:278760 XP group F XP6 XPF xeroderma pigmentosum VI DOID:0110848 xeroderma pigmentosum group F A xeroderma pigmentosum characterized by milder symptoms and later onset of skin cancer that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC4 gene on chromosome 16p13. url:https://www.ncbi.nlm.nih.gov/pubmed/23623389 url:https://www.ncbi.nlm.nih.gov/pubmed/8797827 A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC5 gene on chromosome 13q33. ICD10CM:Q82.1 OMIM:278780 XP group G XP7 XPG xeroderma pigmentosum VII DOID:0110849 xeroderma pigmentosum group G A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC5 gene on chromosome 13q33. url:https://www.ncbi.nlm.nih.gov/pubmed/11841555 A xeroderma pigmentosum characterized by that has_material_basis_in mutation in the ERCC3 gene on chromosome 2q14. ICD10CM:Q82.1 OMIM:610651 XP group B XPB XPBC DOID:0110850 xeroderma pigmentosum group B A xeroderma pigmentosum characterized by that has_material_basis_in mutation in the ERCC3 gene on chromosome 2q14. url:https://www.ncbi.nlm.nih.gov/pubmed/16947863 A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23.3. ICD10CM:Q77.3 OMIM:215100 ORDO:309789 Pbd9 Peroxisome Biogenesis Disorder 9 Rcdp1 DOID:0110851 rhizomelic chondrodysplasia punctata type 1 A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23.3. url:https://www.ncbi.nlm.nih.gov/pubmed/15679822 A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the GNPAT gene on chromosome 1q42.2. ICD10CM:Q77.3 OMIM:222765 ORDO:309796 Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency Dhapat Deficiency Dihydroxyacetonephosphate Acyltransferase Deficiency Glyceronephosphate O-Acyltransferase Deficiency Gnpat Deficiency Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency Rcdp2 DOID:0110852 rhizomelic chondrodysplasia punctata type 2 A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the GNPAT gene on chromosome 1q42.2. https://www.ncbi.nlm.nih.gov/pubmed/1405476 A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the AGPS gene on chromosome 2q31.2. ICD10CM:Q77.3 OMIM:600121 ORDO:309803 Agps Deficiency Alkyldihydroxyacetonephosphate Synthase Deficiency Alkylglycerone-Phosphate Synthase Deficiency Rcdp3 DOID:0110853 rhizomelic chondrodysplasia punctata type 3 A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the AGPS gene on chromosome 2q31.2. https://www.ncbi.nlm.nih.gov/pubmed/22871920 A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX5 gene on chromosome 12p13.31. OMIM:616716 ORDO:468717 Rcdp5 DOID:0110854 rhizomelic chondrodysplasia punctata type 5 A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX5 gene on chromosome 12p13.31. https://www.ncbi.nlm.nih.gov/pubmed/26220973 A posterior polymorphous corneal dystrophy that has_material_basis_in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23. ICD10CM:H18.50 OMIM:122000 Ched1 Corneal Endothelial Dystrophy 1, Autosomal Dominant Maumenee Corneal Dystrophy Ppcd1 DOID:0110855 posterior polymorphous corneal dystrophy 1 A posterior polymorphous corneal dystrophy that has_material_basis_in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23. url:https://www.ncbi.nlm.nih.gov/pubmed/26749309 A posterior polymorphous corneal dystrophy that has_material_basis_in heterozygous mutation in the COL8A2 gene on chromosome 1p34.3. ICD10CM:H18.50 OMIM:609140 Ppcd2 DOID:0110856 posterior polymorphous corneal dystrophy 2 A posterior polymorphous corneal dystrophy that has_material_basis_in heterozygous mutation in the COL8A2 gene on chromosome 1p34.3. url:https://www.ncbi.nlm.nih.gov/pubmed/11689488 A posterior polymorphous corneal dystrophy that has_material_basis_in heterozygous mutation in the ZEB1 gene on chromosome 10p11.22. ICD10CM:H18.50 OMIM:609141 Ppcd3 DOID:0110857 posterior polymorphous corneal dystrophy 3 A posterior polymorphous corneal dystrophy that has_material_basis_in heterozygous mutation in the ZEB1 gene on chromosome 10p11.22. url:https://www.ncbi.nlm.nih.gov/pubmed/16252232 A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3. OMIM:173900 Apkd1 Pkd1 Polycystic Kidney Disease, Adult, Type I DOID:0110858 polycystic kidney disease 1 A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3. url:https://www.ncbi.nlm.nih.gov/pubmed/9650770 A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD2 gene on chromosome 4q22.1. OMIM:613095 Polycystic Kidney Disease, Adult, Type II Apkd2 Pkd2 DOID:0110859 polycystic kidney disease 2 A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD2 gene on chromosome 4q22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/7825585 A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the GANAB gene on chromosome 11q12.3. OMIM:600666 Apkd3 Pkd3 Polycystic Kidney Disease, Adult, Type III DOID:0110860 polycystic kidney disease 3 A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the GANAB gene on chromosome 11q12.3. url:https://www.ncbi.nlm.nih.gov/pubmed/27259053 ICD10CM:Q61.1 MESH:D016891 MESH:D017044 OMIM:263200 ORDO:731 UMLS_CUI:C0085548 Arpkd Pkhd1 Polycystic Kidney Disease, Infantile, Type I Polycystic Kidney and Hepatic Disease 1 DOID:0110861 autosomal recessive polycystic kidney disease A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in mutations in the RHO gene on chromosome 3q22.1. OMIM:610445 CSNBAD1 rhodopsin-related congenital stationary night blindness DOID:0110862 congenital stationary night blindness autosomal dominant 1 A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in mutations in the RHO gene on chromosome 3q22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/7846071 A congenital stationary night blindness characterized by autosomal dominant inhertance that has_material_basis_in heterozygous mutation in the PDE6B gene on chromosome 4p16. OMIM:163500 CSNBAD2 Rambusch type congenital stationary night blindness DOID:0110863 congenital stationary night blindness autosomal dominant 2 A congenital stationary night blindness characterized by autosomal dominant inhertance that has_material_basis_in heterozygous mutation in the PDE6B gene on chromosome 4p16. url:https://www.ncbi.nlm.nih.gov/pubmed/8075643 A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the LRIT3 gene on chromosome 4q25. OMIM:615058 CSNB1F congenital stationary night blindness 1F autosomal recessive DOID:0110864 congenital stationary night blindness 1F A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the LRIT3 gene on chromosome 4q25. url:https://www.ncbi.nlm.nih.gov/pubmed/23246293 A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in mutation in the GRM6 gene on chromosome 5q35. OMIM:257270 CSNB1B autosomal recessive complete congenital stationary night blindness congenital stationary night blindness 1B autosomal recessive DOID:0110865 DOID:0110866 congenital stationary night blindness 1B A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in mutation in the GRM6 gene on chromosome 5q35. url:https://www.ncbi.nlm.nih.gov/pubmed/15781871 A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GNB3 gene on chromosome 12p13. OMIM:617024 CSNB1H congenital stationary night blindness type 1H DOID:0110866 congenital stationary night blindness 1H A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GNB3 gene on chromosome 12p13. url:https://www.ncbi.nlm.nih.gov/pubmed/27063057 A congenital stationary night blindness characterized by autosomal recessive that has_material_basis_in homozygous or compound heterozygous mutation in the TRPM1 gene on chromosome 15q13-q14. OMIM:613216 CSNB1C congenital stationary night blindness 1C autosomal recessive DOID:0110867 congenital stationary night blindness 1C A congenital stationary night blindness characterized by autosomal recessive that has_material_basis_in homozygous or compound heterozygous mutation in the TRPM1 gene on chromosome 15q13-q14. url:https://www.ncbi.nlm.nih.gov/pubmed/19878917 A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SLC24A1 gene on chromosome 15q22. OMIM:613830 CSNB1D congenital stationary night blindness 1D autosomal recessive DOID:0110868 congenital stationary night blindness 1D A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SLC24A1 gene on chromosome 15q22. url:https://www.ncbi.nlm.nih.gov/pubmed/20850105 A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GPR179 gene on chromosome 17q12. OMIM:614565 CSNB1E congenital stationary night blindness 1E autosomal recessive DOID:0110869 congenital stationary night blindness 1E A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GPR179 gene on chromosome 17q12. url:https://www.ncbi.nlm.nih.gov/pubmed/22325361 A congenital stationary night blindness that has_material_basis_in mutation in the NYX gene on chromosome Xp11.4. OMIM:310500 CSNB1A NBMI complete CSNB X-linked congenital stationary night blindness 1A X-linked congenital stationary night blindness with myopia hemeralopia-myopia myopia-night blindness DOID:0110870 congenital stationary night blindness 1A A congenital stationary night blindness that has_material_basis_in mutation in the NYX gene on chromosome Xp11.4. url:https://www.ncbi.nlm.nih.gov/pubmed/9662400 A congenital stationary night blindness that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11.23. OMIM:300071 congenital stationary night blindness 2A X-linked DOID:0110871 congenital stationary night blindness 2A A congenital stationary night blindness that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11.23. url:https://www.ncbi.nlm.nih.gov/pubmed/9662399 A holoprosencephaly that has_material_basis_in mutation in the homeobox-containing SIX3 gene on chromosome 2p21. OMIM:157170 HPE2 DOID:0110872 holoprosencephaly 2 A holoprosencephaly that has_material_basis_in mutation in the homeobox-containing SIX3 gene on chromosome 2p21. url:https://www.ncbi.nlm.nih.gov/pubmed/10369266 A holoprosencephaly that has_material_basis_in heterozygous mutation in the GLI2 gene on chromosome 2q14. OMIM:610829 HPE9 holoprosencephaly with microphthalmia and first branchial arch anomalies pituitary anomalies with holoprosencephaly-like features DOID:0110873 holoprosencephaly 9 A holoprosencephaly that has_material_basis_in heterozygous mutation in the GLI2 gene on chromosome 2q14. url:https://www.ncbi.nlm.nih.gov/pubmed/14581620 A holoprosencephaly that has_material_basis_in variation in the chromosome region 2q37.1-q37.3. OMIM:605934 HPE6 DOID:0110874 holoprosencephaly 6 A holoprosencephaly that has_material_basis_in variation in the chromosome region 2q37.1-q37.3. url:https://www.ncbi.nlm.nih.gov/pubmed/11343300 A holoprosencephaly that has_material_basis_in heterozygous mutation in the SHH gene on chromosome 7q36. OMIM:142945 HLP3 HPE3 DOID:0110875 holoprosencephaly 3 A holoprosencephaly that has_material_basis_in heterozygous mutation in the SHH gene on chromosome 7q36. url:https://www.ncbi.nlm.nih.gov/pubmed/8896572 A holoprosencephaly that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22. OMIM:610828 HPE7 DOID:0110876 holoprosencephaly 7 A holoprosencephaly that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22. url:https://www.ncbi.nlm.nih.gov/pubmed/11941477 A holoprosencephaly that has_material_basis_in heterozygous mutation in the CDON gene on chromosome 11q24. OMIM:614226 HPE11 DOID:0110877 holoprosencephaly 11 A holoprosencephaly that has_material_basis_in heterozygous mutation in the CDON gene on chromosome 11q24. url:https://www.ncbi.nlm.nih.gov/pubmed/21802063 A holoprosencephaly that has_material_basis_in heterozygous mutation in the ZIC2 gene on chromosome 13q32. OMIM:609637 HPE5 DOID:0110878 holoprosencephaly 5 A holoprosencephaly that has_material_basis_in heterozygous mutation in the ZIC2 gene on chromosome 13q32. url:https://www.ncbi.nlm.nih.gov/pubmed/9771712 A holoprosencephaly that has_material_basis_in variation in the chromosome region 14q13. OMIM:609408 HPE8 DOID:0110879 holoprosencephaly 8 A holoprosencephaly that has_material_basis_in variation in the chromosome region 14q13. url:https://www.ncbi.nlm.nih.gov/pubmed/15820313 A holoprosencephaly that has_material_basis_in heterozygous mutation in the TGIF gene on chromosome 18p11. OMIM:142946 HPE4 DOID:0110880 holoprosencephaly 4 A holoprosencephaly that has_material_basis_in heterozygous mutation in the TGIF gene on chromosome 18p11. url:https://www.ncbi.nlm.nih.gov/pubmed/10835638 url:https://www.ncbi.nlm.nih.gov/pubmed/16323008 A holoprosencephaly that has_material_basis_in variation in the chromosome region 21q22.3. OMIM:236100 HPE1 DOID:0110881 holoprosencephaly 1 A holoprosencephaly that has_material_basis_in variation in the chromosome region 21q22.3. url:https://www.ncbi.nlm.nih.gov/pubmed/7485157 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 1p36. OMIM:605225 IBD7 DOID:0110882 inflammatory bowel disease 7 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 1p36. url:https://www.ncbi.nlm.nih.gov/pubmed/19122664 An inflammatory bowel disease that has_material_basis_in variation in the IL23R gene on chromosome 1p31.3. OMIM:612261 IBD17 DOID:0110883 inflammatory bowel disease 17 An inflammatory bowel disease that has_material_basis_in variation in the IL23R gene on chromosome 1p31.3. url:https://www.ncbi.nlm.nih.gov/pubmed/17068223 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 1q32.1. OMIM:612381 IBD23 DOID:0110884 inflammatory bowel disease 23 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 1q32.1. url:https://www.ncbi.nlm.nih.gov/pubmed/15937090 url:https://www.ncbi.nlm.nih.gov/pubmed/18587394 An inflammatory bowel disease that has_material_basis_in variation in the ATG16L1 gene on chromosome 2q37. OMIM:611081 IBD10 inflammatory bowel disease (Crohn disease) 10 DOID:0110885 inflammatory bowel disease 10 An inflammatory bowel disease that has_material_basis_in variation in the ATG16L1 gene on chromosome 2q37. url:https://www.ncbi.nlm.nih.gov/pubmed/18852889 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 3p26. OMIM:608448 IBD9 DOID:0110886 inflammatory bowel disease 9 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 3p26. url:https://www.ncbi.nlm.nih.gov/pubmed/12354785 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 3p21.3 OMIM:612241 IBD12 DOID:0110887 inflammatory bowel disease 12 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 3p21.3 url:https://www.ncbi.nlm.nih.gov/pubmed/17804789 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5p13.1. OMIM:612262 IBD18 DOID:0110888 inflammatory bowel disease 18 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5p13.1. url:https://www.ncbi.nlm.nih.gov/pubmed/17447842 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5q31. OMIM:606348 IBD5 DOID:0110889 inflammatory bowel disease 5 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5q31. url:https://www.ncbi.nlm.nih.gov/pubmed/11586304 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5q33.1. OMIM:612278 IBD19 inflammatory bowel disease (Crohn disease) 19 DOID:0110890 inflammatory bowel disease 19 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5q33.1. url:https://www.ncbi.nlm.nih.gov/pubmed/17554261 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 6p21.3. OMIM:604519 IBD3 DOID:0110891 inflammatory bowel disease 3 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 6p21.3. url:https://www.ncbi.nlm.nih.gov/pubmed/10577918 An inflammatory bowel disease that has_material_basis_in mutations in the NOD2 gene on chromosome 16q12.1. OMIM:266600 IBD1 DOID:0110892 inflammatory bowel disease 1 An inflammatory bowel disease that has_material_basis_in mutations in the NOD2 gene on chromosome 16q12.1. url:https://www.ncbi.nlm.nih.gov/pubmed/11385576 An inflammatory bowel disease that has_material_basis_in variation in the ABCB1 gene on chromosome 7q21.1. OMIM:612244 IBD13 DOID:0110893 inflammatory bowel disease 13 An inflammatory bowel disease that has_material_basis_in variation in the ABCB1 gene on chromosome 7q21.1. url:https://www.ncbi.nlm.nih.gov/pubmed/14610718 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 7q22. OMIM:191390 IBD11 DOID:0110894 inflammatory bowel disease 11 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 7q22. url:https://www.ncbi.nlm.nih.gov/pubmed/8841195 An inflammatory bowel disease that has_material_basis_in variation in the IRF5 gene on chromosome 7q32. OMIM:612245 IBD14 DOID:0110895 inflammatory bowel disease 14 An inflammatory bowel disease that has_material_basis_in variation in the IRF5 gene on chromosome 7q32. url:https://www.ncbi.nlm.nih.gov/pubmed/17881657 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 9q32. OMIM:612259 IBD16 DOID:0110896 inflammatory bowel disease 16 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 9q32. url:https://www.ncbi.nlm.nih.gov/pubmed/18587394 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 10q21. OMIM:612255 IBD15 DOID:0110897 inflammatory bowel disease 15 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 10q21. url:https://www.ncbi.nlm.nih.gov/pubmed/18438406 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 10q23-q24. OMIM:612288 IBD20 DOID:0110898 inflammatory bowel disease 20 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 10q23-q24. url:https://www.ncbi.nlm.nih.gov/pubmed/10053016 An inflammatory bowel disease characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the IL10RA gene on chromosome 11q23. OMIM:613148 IBD28 early onset autosomal recessive inflammatory bowel disease 28 DOID:0110899 inflammatory bowel disease 28 An inflammatory bowel disease characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the IL10RA gene on chromosome 11q23. url:https://www.ncbi.nlm.nih.gov/pubmed/19890111 url:https://www.ncbi.nlm.nih.gov/pubmed/22476154 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 12p13.2-q24.1. OMIM:601458 IBD2 DOID:0110900 inflammatory bowel disease 2 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 12p13.2-q24.1. url:https://www.ncbi.nlm.nih.gov/pubmed/8841195 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 12q15. OMIM:612639 IBD26 DOID:0110901 inflammatory bowel disease 26 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 12q15. url:https://www.ncbi.nlm.nih.gov/pubmed/19122664 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 13q13.3 OMIM:612796 IBD27 DOID:0110902 inflammatory bowel disease 27 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 13q13.3 url:https://www.ncbi.nlm.nih.gov/pubmed/18246054 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 14q11-q12. OMIM:606675 IBD4 DOID:0110903 inflammatory bowel disease 4 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 14q11-q12. url:https://www.ncbi.nlm.nih.gov/pubmed/10747815 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 16p. OMIM:606668 IBD8 DOID:0110904 inflammatory bowel disease 8 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 16p. url:https://www.ncbi.nlm.nih.gov/pubmed/11752413 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 17q21.2. OMIM:612380 IBD22 DOID:0110905 inflammatory bowel disease 22 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 17q21.2. url:https://www.ncbi.nlm.nih.gov/pubmed/18438405 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 18p11. OMIM:612354 IBD21 DOID:0110906 inflammatory bowel disease 21 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 18p11. url:https://www.ncbi.nlm.nih.gov/pubmed/17554261 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 19p13. OMIM:606674 IBD6 DOID:0110907 inflammatory bowel disease 6 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 19p13. url:https://www.ncbi.nlm.nih.gov/pubmed/10777714 An inflammatory bowel disease that has_material_basis_in variation in the chromosome 20q13. OMIM:612566 IBD24 DOID:0110908 inflammatory bowel disease 24 An inflammatory bowel disease that has_material_basis_in variation in the chromosome 20q13. url:https://www.ncbi.nlm.nih.gov/pubmed/18758464 An inflammatory bowel disease characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the IL10RB gene on chromosome 21q22. OMIM:612567 IBD25 early onset autosomal recessive inflammatory bowel disease 25 DOID:0110909 inflammatory bowel disease 25 An inflammatory bowel disease characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the IL10RB gene on chromosome 21q22. url:https://www.ncbi.nlm.nih.gov/pubmed/19890111 A leukocyte adhesion deficiency that has_material_basis_in mutation of the ITGB2 gene on chromosome 21q22.3. OMIM:116920 ORDO:99842 LAD1 LFA1 immunodeficiency leukocyte adhesion deficiency type I lymphocyte function-associated antigen 1 immunodeficiency DOID:0110910 leukocyte adhesion deficiency 1 A leukocyte adhesion deficiency that has_material_basis_in mutation of the ITGB2 gene on chromosome 21q22.3. url:https://www.ncbi.nlm.nih.gov/pubmed/6361068 A leukocyte adhesion deficiency that has_material_basis_in mutation of the KIND3 gene on chromosome 11q13.1. OMIM:612840 ORDO:99844 IADD LAD1 variant LAD1V LAD3 integrin activation deficiency disease leukocyte adhesion deficiency 1 variant leukocyte adhesion deficiency type III DOID:0110912 leukocyte adhesion deficiency 3 A leukocyte adhesion deficiency that has_material_basis_in mutation of the KIND3 gene on chromosome 11q13.1. url:https://www.ncbi.nlm.nih.gov/pubmed/19234463 A hypophosphatasia that has_material_basis_in a heterozygous mutation of ALPL on chromosome 1p36.12. OMIM:146300 ORDO:247676 mild hypophosphatasia DOID:0110913 adult hypophosphatasia A hypophosphatasia that has_material_basis_in a heterozygous mutation of ALPL on chromosome 1p36.12. url:https://www.ncbi.nlm.nih.gov/pubmed/1409720 A hypophosphatasia that has_material_basis_in an autosomal recessive mutation of ALPL on chromosome 1p36.12. OMIM:241500 ORDO:247651 Hops phosphoethanolaminuria DOID:0110914 infantile hypophosphatasia A hypophosphatasia that has_material_basis_in an autosomal recessive mutation of ALPL on chromosome 1p36.12. url:https://www.ncbi.nlm.nih.gov/pubmed/1689104 A hypophosphatasia that has_material_basis_in an autosomal recessive mutation of ALPL on chromosome 1p36.12. OMIM:241510 ORDO:247667 DOID:0110915 childhood hypophosphatasia A hypophosphatasia that has_material_basis_in an autosomal recessive mutation of ALPL on chromosome 1p36.12. url:https://www.ncbi.nlm.nih.gov/pubmed/1409720 A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of ANK1 on chromosome 8p11.21. OMIM:182900 HS1 SPH1 hereditary spherocytosis 1 hereditary spherocytosis type 1 A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of ANK1 on chromosome 8p11.21. url:https://www.ncbi.nlm.nih.gov/pubmed/2675425 A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of SPTB on chromosome 14q23.3. OMIM:616649 HS2 SPH2 hereditary spherocytosis 2 hereditary spherocytosis type 2 A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of SPTB on chromosome 14q23.3. url:https://www.ncbi.nlm.nih.gov/pubmed/8102379 A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of SPTA1 on chromosome 1q23.1. OMIM:270970 HS3 SPH3 hereditary spherocytosis 3 hereditary spherocytosis type 3 A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of SPTA1 on chromosome 1q23.1. url:https://www.ncbi.nlm.nih.gov/pubmed/8941647 A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of SLC4A1 on chromosome 17q21.31. OMIM:612653 HS4 SPH4 hereditary spherocytosis 4 hereditary spherocytosis type 4 A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of SLC4A1 on chromosome 17q21.31. url:https://www.ncbi.nlm.nih.gov/pubmed/ 7530501 A hereditary spherocytosis that has_material_basis_in a mutation of EPB42 on chromosome 15q15.2. OMIM:612690 HS5 SPH5 hereditary spherocytosis 5 hereditary spherocytosis type 5 A hereditary spherocytosis that has_material_basis_in a mutation of EPB42 on chromosome 15q15.2. url:https://www.ncbi.nlm.nih.gov/pubmed/1558976 A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of HPLH1 on chromosome 9q21.3-q22. OMIM:267700 FHL1 HLH1 HPLH1 DOID:0110921 familial hemophagocytic lymphohistiocytosis 1 A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of HPLH1 on chromosome 9q21.3-q22. url:https://www.ncbi.nlm.nih.gov/pubmed/9915955 A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of PRF1 on chromosome 10q22.1. OMIM:603553 FHL2 HLH2 HPLH2 DOID:0110922 familial hemophagocytic lymphohistiocytosis 2 A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of PRF1 on chromosome 10q22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/10583959 A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of UNC13D on chromosome 17q25.1. OMIM:608898 FHL3 HLH3 HPLH3 DOID:0110923 familial hemophagocytic lymphohistiocytosis 3 A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of UNC13D on chromosome 17q25.1. url:https://www.ncbi.nlm.nih.gov/pubmed/14622600 A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of STX11 on chromosome 6q24.2. OMIM:603552 FHL4 HLH4 HPLH4 DOID:0110924 familial hemophagocytic lymphohistiocytosis 4 A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of STX11 on chromosome 6q24.2. url:https://www.ncbi.nlm.nih.gov/pubmed/15703195 A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of STXBP2 on chromosome 19p13.2. OMIM:613101 FHL5 HLH5 HPLH5 DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of STXBP2 on chromosome 19p13.2. url:https://www.ncbi.nlm.nih.gov/pubmed/19804848 A nemaline myopathy characterized by onset typically in early childhood of mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TPM3 gene on chromosome 1q21. OMIM:609284 NEM1 nemaline myopathy 1, autosomal dominant or recessive DOID:0110926 nemaline myopathy 1 A nemaline myopathy characterized by onset typically in early childhood of mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TPM3 gene on chromosome 1q21. url:https://www.ncbi.nlm.nih.gov/pubmed/10619715 url:https://www.ncbi.nlm.nih.gov/pubmed/24095155 url:https://www.ncbi.nlm.nih.gov/pubmed/7704029 A nemaline myopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42. OMIM:161800 NEM3 nemaline myopathy 3, autosomal dominant or recessive DOID:0110927 nemaline myopathy 3 A nemaline myopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42. url:https://www.ncbi.nlm.nih.gov/pubmed/10508519 url:https://www.ncbi.nlm.nih.gov/pubmed/11333380 A nemaline myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23. OMIM:256030 NEM2 nemaline myopathy 2, autosomal recessive DOID:0110928 nemaline myopathy 2 A nemaline myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23. url:https://www.ncbi.nlm.nih.gov/pubmed/10051637 url:https://www.ncbi.nlm.nih.gov/pubmed/15221447 A nemaline myopathy characterized by onset in early infancy of muscle weakness with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL41 gene on chromosome 2q31. OMIM:615731 NEM9 DOID:0110929 nemaline myopathy 9 A nemaline myopathy characterized by onset in early infancy of muscle weakness with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL41 gene on chromosome 2q31. url:https://www.ncbi.nlm.nih.gov/pubmed/24268659 A nemaline myopathy characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL40 gene on chromosome 3p22. OMIM:615348 NEM8 nemaline myopathy 8, autosomal recessive DOID:0110930 nemaline myopathy 8 A nemaline myopathy characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL40 gene on chromosome 3p22. url:https://www.ncbi.nlm.nih.gov/pubmed/23746549 A nemaline myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the LMOD3 gene on chromosome 3p14. OMIM:616165 NEM10 DOID:0110931 nemaline myopathy 10 A nemaline myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the LMOD3 gene on chromosome 3p14. url:https://www.ncbi.nlm.nih.gov/pubmed/25250574 A nemaline myopathy that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13. OMIM:609285 NEM4 nemaline myopathy 4, autosomal dominant DOID:0110932 nemaline myopathy 4 A nemaline myopathy that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13. url:https://www.ncbi.nlm.nih.gov/pubmed/11738357 A nemaline myopathy characterized by onset of slowly progressive muscle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the MYPN gene on chromosome 10q21. OMIM:617336 NEM11 nemaline myopathy 11, autosomal recessive DOID:0110933 nemaline myopathy 11 A nemaline myopathy characterized by onset of slowly progressive muscle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the MYPN gene on chromosome 10q21. url:https://www.ncbi.nlm.nih.gov/pubmed/28017374 A nemaline myopathy characterized by very early onset of hypotonia and delayed motor development that has_material_basis_in homozygous mutation in the CFL2 gene on chromosome 14q13. OMIM:610687 NEM7 nemaline myopathy 7, autosomal recessive DOID:0110934 nemaline myopathy 7 A nemaline myopathy characterized by very early onset of hypotonia and delayed motor development that has_material_basis_in homozygous mutation in the CFL2 gene on chromosome 14q13. url:https://www.ncbi.nlm.nih.gov/pubmed/17160903 url:https://www.ncbi.nlm.nih.gov/pubmed/22560515 A nemaline myopathy characterized by autosomal dominant inheritance of childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles that has_material_basis_in heterozygous mutation in the KBTBD13 gene on chromosome 15q22. OMIM:609273 nemaline myopathy 6, autosomal dominant DOID:0110935 nemaline myopathy 6 A nemaline myopathy characterized by autosomal dominant inheritance of childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles that has_material_basis_in heterozygous mutation in the KBTBD13 gene on chromosome 15q22. url:https://www.ncbi.nlm.nih.gov/pubmed/21109227 A nemaline myopathy that has_material_basis_in homozygous mutation in the TNNT1 gene on chromosome 19q13. OMIM:605355 ANM Amish nemaline myopathy NEM5 nemaline myopathy 5, Amish type DOID:0110936 nemaline myopathy 5 A nemaline myopathy that has_material_basis_in homozygous mutation in the TNNT1 gene on chromosome 19q13. url:https://www.ncbi.nlm.nih.gov/pubmed/10952871 An osteopetrosis characterized by autosomal dominant inheritance of generalized osteosclerosis that is most pronounced in the cranial vault, absence of increased fractures and has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13. ICD10CM:Q78.2 MESH:C536056 OMIM:607634 ORDO:2783 UMLS_CUI:C2931097 OPTA1 autosomal dominant osteopetrosis type 1 DOID:0110937 autosomal dominant osteopetrosis 1 An osteopetrosis characterized by autosomal dominant inheritance of generalized osteosclerosis that is most pronounced in the cranial vault, absence of increased fractures and has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13. url:https://www.ncbi.nlm.nih.gov/pubmed/12579474 url:https://www.ncbi.nlm.nih.gov/pubmed/3377922 An osteopetrosis characterized by autosomal dominant inheritance of sclerosis predominantly involving the spine, the pelvis, and the skull base, bone fragility and dental abscesses that has_material_basis_in mutation in the CLCN7 gene on chromosome 16p13. ICD10CM:Q78.2 OMIM:166600 ORDO:53 UMLS_CUI:C3179239 Albers-Schonberg osteopetrosis OPTA2 autosomal dominant Albers-Schonberg disease autosomal dominant osteopetrosis type II osteopetrosis autosomal dominant type 2 DOID:0110938 autosomal dominant osteopetrosis 2 An osteopetrosis characterized by autosomal dominant inheritance of sclerosis predominantly involving the spine, the pelvis, and the skull base, bone fragility and dental abscesses that has_material_basis_in mutation in the CLCN7 gene on chromosome 16p13. url:https://www.ncbi.nlm.nih.gov/pubmed/11741829 url:https://www.ncbi.nlm.nih.gov/pubmed/3588909 An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the OSTM1 gene on chromosome 6q21. OMIM:259720 OPTB5 infantile malignant osteopetrosis 3 DOID:0110939 autosomal recessive osteopetrosis 5 An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the OSTM1 gene on chromosome 6q21. url:https://www.ncbi.nlm.nih.gov/pubmed/12627228 An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SNX10 gene on chromosome 7p15. OMIM:615085 OPTB8 DOID:0110940 autosomal recessive osteopetrosis 8 An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SNX10 gene on chromosome 7p15. url:https://www.ncbi.nlm.nih.gov/pubmed/22499339 An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CA2 gene on chromosome 8q21. OMIM:259730 Guibaud-Vainsel syndrome OPTB3 autosomal recessive osteopetrosis 3 with renal tubular acidosis carbonic anhydrase II deficiency marble brain disease osteopetrosis with renal tubular acidosis DOID:0110941 autosomal recessive osteopetrosis 3 An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CA2 gene on chromosome 8q21. url:https://www.ncbi.nlm.nih.gov/pubmed/1928091 An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TCIRG1 gene on chromosome 11q13.2. OMIM:259700 OPTB1 autosomal recessive Albers-Schonberg disease infantile malignant osteopetrosis 1 DOID:0110942 autosomal recessive osteopetrosis 1 An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TCIRG1 gene on chromosome 11q13.2. url:https://www.ncbi.nlm.nih.gov/pubmed/10888887 An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the TNFSF11 gene on chromosome 13q14. OMIM:259710 OPTB2 mild autosomal recessive form osteopetrosis osteoclast-poor osteopetrosis DOID:0110943 autosomal recessive osteopetrosis 2 An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the TNFSF11 gene on chromosome 13q14. url:https://www.ncbi.nlm.nih.gov/pubmed/17632511 An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CLCN7 gene on chromosome 16p13. OMIM:611490 OPTB4 infantile malignant osteopetrosis 2 DOID:0110944 autosomal recessive osteopetrosis 4 An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CLCN7 gene on chromosome 16p13. url:https://www.ncbi.nlm.nih.gov/pubmed/11207362 An osteopetrosis characterized by autosomal recessive inheritance of that has_material_basis_in mutation in the PLEKHM1 gene on chromosome 17q21.31. OMIM:611497 OPTB6 autosomal recessive osteopetrosis intermediate form DOID:0110945 autosomal recessive osteopetrosis 6 An osteopetrosis characterized by autosomal recessive inheritance of that has_material_basis_in mutation in the PLEKHM1 gene on chromosome 17q21.31. url:https://www.ncbi.nlm.nih.gov/pubmed/17404618 An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21. ICD10CM:Q78.2 OMIM:612301 ORDO:178389 OPTB7 autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia autosomal recessive osteopetrosis type 7 osteoclast-poor osteopetrosis with hypogammaglobulinemia osteopetrosis-hypogammaglobulinemia syndrome DOID:0110946 autosomal recessive osteopetrosis 7 An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21. url:https://www.ncbi.nlm.nih.gov/pubmed/18606301 A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in variation in the chromosome region 1p21-p13.3. OMIM:600193 WS2B Waardenburg syndrome type IIB DOID:0110947 Waardenburg syndrome type 2B A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in variation in the chromosome region 1p21-p13.3. url:https://www.ncbi.nlm.nih.gov/pubmed/20127975 url:https://www.ncbi.nlm.nih.gov/pubmed/7951321 A Waardenburg's syndrome characterized by autosomal dominant inheritance of congenital deafness, pigmentation anomalies of eyes, hair, and skin,and dystopia canthorum that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36. ICD10CM:E70.3 OMIM:193500 ORDO:894 UMLS_CUI:C1847800 WS1 Waardenburg syndrome type I DOID:0110948 Waardenburg syndrome type 1 A Waardenburg's syndrome characterized by autosomal dominant inheritance of congenital deafness, pigmentation anomalies of eyes, hair, and skin,and dystopia canthorum that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36. url:https://www.ncbi.nlm.nih.gov/pubmed/1347148 url:https://www.ncbi.nlm.nih.gov/pubmed/20127975 A Waardenburg's syndrome characterized by upper limb anomalies, congenital hearing loss, dystopia canthorum and pigmentation anomalies of eyes, hair, and skin that has_material_basis_in heterozygous or homozygous mutation in the PAX3 gene on chromosome 2q36. ICD10CM:E70.3 OMIM:148820 ORDO:896 Klein-Waardenburg syndrome WS3 Waardenburg syndrome type III Waardenburg syndrome with upper limb anomalies DOID:0110949 Waardenburg syndrome type 3 A Waardenburg's syndrome characterized by upper limb anomalies, congenital hearing loss, dystopia canthorum and pigmentation anomalies of eyes, hair, and skin that has_material_basis_in heterozygous or homozygous mutation in the PAX3 gene on chromosome 2q36. url:https://www.ncbi.nlm.nih.gov/pubmed/20127975 url:https://www.ncbi.nlm.nih.gov/pubmed/8447316 A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutation in the MITF gene on chromosome 3p13. OMIM:193510 WS2A Waardenburg syndrome type IIA DOID:0110950 Waardenburg syndrome type 2A A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutation in the MITF gene on chromosome 3p13. url:https://www.ncbi.nlm.nih.gov/pubmed/20127975 url:https://www.ncbi.nlm.nih.gov/pubmed/7874167 A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in variation in the chromosome region 8p23. OMIM:606662 WS2C Waardenburg syndrome type IIC DOID:0110951 Waardenburg syndrome type 2C A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in variation in the chromosome region 8p23. url:https://www.ncbi.nlm.nih.gov/pubmed/11810298 url:https://www.ncbi.nlm.nih.gov/pubmed/20127975 A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in homozygous deletion of the SNAI2 gene on chromosome 8q11. OMIM:608890 WS2D Waardenburg syndrome type IID DOID:0110952 Waardenburg syndrome type 2D A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in homozygous deletion of the SNAI2 gene on chromosome 8q11. url:https://www.ncbi.nlm.nih.gov/pubmed/12444107 url:https://www.ncbi.nlm.nih.gov/pubmed/20127975 A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous or homozygous mutation in the EDNRB gene on chromosome 13q22. OMIM:277580 WS4A Waardenburg syndrome type IVA Waardenburg syndrome with Hirschsprung disease type 4A DOID:0110953 Waardenburg syndrome type 4A A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous or homozygous mutation in the EDNRB gene on chromosome 13q22. url:https://www.ncbi.nlm.nih.gov/pubmed/8001158 A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in homozygous and heterozygous mutation in the EDN3 gene on chromosome 20q13. OMIM:613265 WS4B Waardenburg syndrome type IVB Waardenburg syndrome with Hirschsprung disease type 4B DOID:0110954 Waardenburg syndrome type 4B A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in homozygous and heterozygous mutation in the EDN3 gene on chromosome 20q13. url:https://www.ncbi.nlm.nih.gov/pubmed/8630502 A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous mutation in the SOX10 gene on chromosome 22q13. OMIM:613266 WS4C Waardenburg syndrome type IVC Waardenburg syndrome with Hirschsprung disease type 4C DOID:0110955 Waardenburg syndrome type 4C A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous mutation in the SOX10 gene on chromosome 22q13. url:https://www.ncbi.nlm.nih.gov/pubmed/9462749 A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutations in the SOX10 gene on chromosome 22q13. OMIM:611584 WS2E WS2E with or without neurological involvement Waardenburg syndrome type 2E with or without neurologic involvement Waardenburg syndrome type IIE hypogonadotropic hypogonadism with anosmia and deafness with or without hypopigmentation DOID:0110956 Waardenburg syndrome type 2E A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutations in the SOX10 gene on chromosome 22q13. url:https://www.ncbi.nlm.nih.gov/pubmed/10441344 url:https://www.ncbi.nlm.nih.gov/pubmed/20127975 A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_in a mutation of GBA on chromosome 1q22. ICD10CM:E75.2 OMIM:230800 ORDO:77259 Acid Beta-Glucosidase Deficiency GD I Gaucher Disease, Noncerebral Juvenile Gba Deficiency Glucocerebrosidase Deficiency DOID:0110957 Gaucher's disease type I A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_in a mutation of GBA on chromosome 1q22. url:https://www.ncbi.nlm.nih.gov/pubmed/1897529 A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in an autosomal recessive mutation of GBA on chromosome 1q22. ICD10CM:E75.2 OMIM:230900 ORDO:77260 GD II Gaucher Disease, Acute Neuronopathic Type Infantile Cerebral Gaucher Disease DOID:0110958 Gaucher's disease type II A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in an autosomal recessive mutation of GBA on chromosome 1q22. url:https://www.ncbi.nlm.nih.gov/pubmed/10649495 url:https://www.ncbi.nlm.nih.gov/pubmed/2880291 A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in an autosomal recessive mutation of GBA on chromosome 1q22. ICD10CM:E75.2 OMIM:231000 ORDO:77261 GD III Gaucher Disease, Chronic Neuronopathic Type Gaucher Disease, Juvenile And Adult, Cerebral Gaucher Disease, Subacute Neuronopathic Type DOID:0110959 Gaucher's disease type III A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in an autosomal recessive mutation of GBA on chromosome 1q22. url:https://www.ncbi.nlm.nih.gov/pubmed/2378352 url:https://www.ncbi.nlm.nih.gov/pubmed/8413956 A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in an autosomal recessive mutation of GBA on chromosome 1q22. ICD10CM:E75.2 OMIM:608013 ORDO:85212 Fetal Gaucher Disease Gaucher Disease, Collodion Type DOID:0110960 Gaucher's disease perinatal lethal A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in an autosomal recessive mutation of GBA on chromosome 1q22. url:https://www.ncbi.nlm.nih.gov/pubmed/12838552 url:https://www.ncbi.nlm.nih.gov/pubmed/1437405 A Gaucher's disease that has_material_basis_in an autosomal recessive mutation of PSAP on chromosome 10q22.1. ICD10CM:E75.2 OMIM:610539 ORDO:309252 DOID:0110961 atypical Gaucher's disease due to saposin c deficiency A Gaucher's disease that has_material_basis_in an autosomal recessive mutation of PSAP on chromosome 10q22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/17919309 A brachydactyly characterized by autosomal dominant inheritance of short thumbs and first toes with abduction of these digits, the shortening involves the metacarpals, metatarsals, and distal phalanges. ICD10CM:Q73.8 OMIM:112450 ORDO:1278 Christian brachydactyly preaxial brachydactyly with hallux varus and thumb abduction DOID:0110962 brachydactyly-preaxial hallux varus syndrome A brachydactyly characterized by autosomal dominant inheritance of short thumbs and first toes with abduction of these digits, the shortening involves the metacarpals, metatarsals, and distal phalanges. url:https://www.ncbi.nlm.nih.gov/pubmed/5082920 A brachydactyly characterized by autosomal dominant inheritance of hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals but normal stature. ICD10CM:Q73.8 OMIM:112440 ORDO:93395 Ballard type brachydactyly Pitt-Williams brachydactyly brachydactyly types B and E combined DOID:0110963 Ballard syndrome A brachydactyly characterized by autosomal dominant inheritance of hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals but normal stature. url:https://www.ncbi.nlm.nih.gov/pubmed/4009643 A brachydactyly characterized by rudimentary or fused middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes. OMIM:112500 ORDO:93388 BDA1 Farabee type brachydactyly DOID:0110964 brachydactyly type A1 A brachydactyly characterized by rudimentary or fused middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes. url:https://www.ncbi.nlm.nih.gov/pubmed/12525541 url:https://www.ncbi.nlm.nih.gov/pubmed/14043746 A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of BMP2 on chromosome 20p12. ICD10CM:Q73.8 MESH:C537089 OMIM:112600 ORDO:93396 UMLS_CUI:C1832702 BDA2 Mohr-Wriedt type brachydactyly brachymesophalangy II DOID:0110965 brachydactyly type A2 A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of BMP2 on chromosome 20p12. url:https://www.ncbi.nlm.nih.gov/pubmed/14523231 url:https://www.ncbi.nlm.nih.gov/pubmed/16127465 url:https://www.ncbi.nlm.nih.gov/pubmed/21357617 A brachydactyly characterized by shortening of the middle phalanx of the fifth finger resulting in radial curvature of the fifth finger. OMIM:112700 BDA3 brachydactyly-clinodactyly brachymesophalangy V DOID:0110966 brachydactyly type A3 A brachydactyly characterized by shortening of the middle phalanx of the fifth finger resulting in radial curvature of the fifth finger. url:https://www.ncbi.nlm.nih.gov/pubmed/7416253 A brachydactyly characterized by autosomal dominant inheritance of hypoplastic middle phalanges, brachymesophalangy affecting mainly the 2nd and 5th digits and congenital talipes calcaneovalgus. ICD10CM:Q73.8 OMIM:112800 ORDO:93394 BDA4 Temtamy type brachydactyly brachymesophalangy II and V DOID:0110967 brachydactyly type A4 A brachydactyly characterized by autosomal dominant inheritance of hypoplastic middle phalanges, brachymesophalangy affecting mainly the 2nd and 5th digits and congenital talipes calcaneovalgus. url:https://www.ncbi.nlm.nih.gov/pubmed/4325377 url:https://www.ncbi.nlm.nih.gov/pubmed/5663738 A brachydactyly characterized by brachymesophalangy with mesomelic short limbs, absence or hypoplasia of second phalanges with synostosis of the remaining phalanges, and carpal and tarsal coalitions. ICD10CM:Q73.8 MESH:C537092 OMIM:112910 ORDO:93382 UMLS_CUI:C1862130 BDA6 Osebold-Remondini syndrome brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities DOID:0110968 brachydactyly type A6 A brachydactyly characterized by brachymesophalangy with mesomelic short limbs, absence or hypoplasia of second phalanges with synostosis of the remaining phalanges, and carpal and tarsal coalitions. url:https://www.ncbi.nlm.nih.gov/pubmed/4073129 A brachydactyly characterized by short middle phalanges, rudimentary or absent terminal phalanges and nail aplasia that has_material_basis_in heterozygous mutation in the ROR2 gene on chromosome 9q22. OMIM:113000 BDB1 DOID:0110969 brachydactyly type B1 A brachydactyly characterized by short middle phalanges, rudimentary or absent terminal phalanges and nail aplasia that has_material_basis_in heterozygous mutation in the ROR2 gene on chromosome 9q22. url:https://www.ncbi.nlm.nih.gov/pubmed/10700182 url:https://www.ncbi.nlm.nih.gov/pubmed/9973295 A brachydactyly characterized by rachymesophalangy of the index, middle and little fingers, hyperphalangy of the index and middle finger, and shortening of the 1st metacarpal that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11. ICD10CM:Q73.8 MESH:C537093 OMIM:113100 ORDO:93384 UMLS_CUI:C1300268 UMLS_CUI:C1862103 BDC DOID:0110970 brachydactyly type C A brachydactyly characterized by rachymesophalangy of the index, middle and little fingers, hyperphalangy of the index and middle finger, and shortening of the 1st metacarpal that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11. url:https://www.ncbi.nlm.nih.gov/pubmed/9288091 A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has_material_basis_in mutation in the HOXD13 gene on chromosome 2q31.1. OMIM:113200 BDD DOID:0110971 brachydactyly type D A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has_material_basis_in mutation in the HOXD13 gene on chromosome 2q31.1. url:https://www.ncbi.nlm.nih.gov/pubmed/12649808 A brachydactyly characterized by shortening of the fingers,mainly in the metacarpals and metatarsals, that has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31. OMIM:113300 BDE1 DOID:0110972 brachydactyly type E1 A brachydactyly characterized by shortening of the fingers,mainly in the metacarpals and metatarsals, that has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31. url:https://www.ncbi.nlm.nih.gov/pubmed/12649808 url:https://www.ncbi.nlm.nih.gov/pubmed/8933344 A brachydactyly characterized by short, abducted thumbs and great toes. ICD10CM:Q87.5 MESH:C535914 OMIM:301940 ORDO:2565 UMLS_CUI:C2931060 Mononen type brachydactyly short and abducted thumbs and great toes DOID:0110973 Mononen-Karnes-Senac syndrome A brachydactyly characterized by short, abducted thumbs and great toes. url:https://www.ncbi.nlm.nih.gov/pubmed/1632443 A brachydactyly type A1 characterized by shortened middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes but normal stature that has_material_basis_in variation in the chromosome region 5p13.3-p13.2. OMIM:607004 BDA1B DOID:0110974 brachydactyly type A1B A brachydactyly type A1 characterized by shortened middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes but normal stature that has_material_basis_in variation in the chromosome region 5p13.3-p13.2. url:https://www.ncbi.nlm.nih.gov/pubmed/11897820 A brachydactyly characterized by hypoplasia/aplasia of distal phalanges, distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly that has_material_basis_in mutations in the NOG gene on chromosome 17q22. ICD10CM:Q73.8 OMIM:611377 ORDO:140908 BDB2 DOID:0110975 brachydactyly type B2 A brachydactyly characterized by hypoplasia/aplasia of distal phalanges, distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly that has_material_basis_in mutations in the NOG gene on chromosome 17q22. url:https://www.ncbi.nlm.nih.gov/pubmed/17668388 A characterized byautosomal dominant inheritance of short stature, tooth abnormaities, and short metacarpals and metatarsals that has_material_basis_in heterozygous mutation in the PTHLH gene on chromosome 12p. OMIM:613382 BDE2 DOID:0110976 brachydactyly type E2 A characterized byautosomal dominant inheritance of short stature, tooth abnormaities, and short metacarpals and metatarsals that has_material_basis_in heterozygous mutation in the PTHLH gene on chromosome 12p. url:https://www.ncbi.nlm.nih.gov/pubmed/20015959 url:https://www.ncbi.nlm.nih.gov/pubmed/20170896 A brachydactyly type A1 has_material_basis_in homozygous or heterozygous mutation in the GDF5 gene on chromosome 20q11. OMIM:615072 BDA1C DOID:0110977 brachydactyly type A1C A brachydactyly type A1 has_material_basis_in homozygous or heterozygous mutation in the GDF5 gene on chromosome 20q11. url:https://www.ncbi.nlm.nih.gov/pubmed/20683927 A brachydactyly type A1 that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q22. OMIM:616849 BDA1D DOID:0110978 brachydactyly type A1D A brachydactyly type A1 that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q22. url:https://www.ncbi.nlm.nih.gov/pubmed/25758993 A brachydactyly characterized by a nonarticulating great toe set dorsal and proximal to the typical position. OMIM:272150 brachydactyly with major proximal phalangeal shortening DOID:0110979 Sugarman brachydactyly A brachydactyly characterized by a nonarticulating great toe set dorsal and proximal to the typical position. url:https://www.ncbi.nlm.nih.gov/pubmed/7083610 A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34. OMIM:213300 CORS1 CPD4 JBTS1 cerebellooculorenal syndrome 1 cerebelloparenchymal disorder IV DOID:0110980 Joubert syndrome 1 A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34. url:https://www.ncbi.nlm.nih.gov/pubmed/19668216 A Joubert syndrome that has_material_basis_in X-linked recessive inheritance of mutation in the OFD1 gene on chromosome Xp22.2. OMIM:300804 JBTS10 DOID:0110981 Joubert syndrome 10 A Joubert syndrome that has_material_basis_in X-linked recessive inheritance of mutation in the OFD1 gene on chromosome Xp22.2. url:https://www.ncbi.nlm.nih.gov/pubmed/19800048 A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TCTN1 gene on chromosome 12q24. OMIM:614173 JBTS13 DOID:0110982 Joubert syndrome 13 A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TCTN1 gene on chromosome 12q24. url:https://www.ncbi.nlm.nih.gov/pubmed/21725307 A Joubert syndrome characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM237 gene on chromosome 2q33. OMIM:614424 JBTS14 DOID:0110983 Joubert syndrome 14 A Joubert syndrome characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM237 gene on chromosome 2q33. url:https://www.ncbi.nlm.nih.gov/pubmed/17603801 url:https://www.ncbi.nlm.nih.gov/pubmed/22152675 A Joubert syndrome characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation that has_material_basis_in homozygous mutation in the CEP41 gene on chromosome 7q32. OMIM:614464 JBTS15 DOID:0110984 Joubert syndrome 15 A Joubert syndrome characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation that has_material_basis_in homozygous mutation in the CEP41 gene on chromosome 7q32. url:https://www.ncbi.nlm.nih.gov/pubmed/22246503 A Joubert syndrome characterized by molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement that has_material_basis_in homozygous mutation in the TMEM138 gene on chromosome 11q. OMIM:614465 JBTS16 DOID:0110985 Joubert syndrome 16 A Joubert syndrome characterized by molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement that has_material_basis_in homozygous mutation in the TMEM138 gene on chromosome 11q. url:https://www.ncbi.nlm.nih.gov/pubmed/22282472 A Joubert syndrome characterized by episodic hyperpnea, abnormal eye movements, ataxia, and global psychomotor retardation that has_material_basis_in compound heterozygous mutation in the C5ORF42 gene on chromosome 5p13. OMIM:614615 JBTS17 DOID:0110986 Joubert syndrome 17 A Joubert syndrome characterized by episodic hyperpnea, abnormal eye movements, ataxia, and global psychomotor retardation that has_material_basis_in compound heterozygous mutation in the C5ORF42 gene on chromosome 5p13. url:https://www.ncbi.nlm.nih.gov/pubmed/26092869 A Joubert syndrome that has_material_basis_in homozygous mutation in the TCTN3 gene on chromosome 10q24. OMIM:614815 JBTS18 DOID:0110987 Joubert syndrome 18 A Joubert syndrome that has_material_basis_in homozygous mutation in the TCTN3 gene on chromosome 10q24. url:https://www.ncbi.nlm.nih.gov/pubmed/22883145 A Joubert syndrome characterized by molar tooth sign on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities that has_material_basis_in mutation in the TMEM216 gene on chromosome 11q12.2. OMIM:608091 CORS2 JBTS2 cerebellooculorenal syndrome 2 DOID:0110988 Joubert syndrome 2 A Joubert syndrome characterized by molar tooth sign on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities that has_material_basis_in mutation in the TMEM216 gene on chromosome 11q12.2. url:https://www.ncbi.nlm.nih.gov/pubmed/20036350 url:https://www.ncbi.nlm.nih.gov/pubmed/9373798 A Joubert syndrome that has_material_basis_in compound heterozygous mutation in the TMEM231 gene on chromosome 16q23. OMIM:614970 JBTS20 DOID:0110989 Joubert syndrome 20 A Joubert syndrome that has_material_basis_in compound heterozygous mutation in the TMEM231 gene on chromosome 16q23. url:https://www.ncbi.nlm.nih.gov/pubmed/23012439 A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CSPP1 gene on chromosome 8q13. OMIM:615636 JBTS21 DOID:0110990 Joubert syndrome 21 A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CSPP1 gene on chromosome 8q13. url:https://www.ncbi.nlm.nih.gov/pubmed/24360808 A Joubert syndrome that has_material_basis_in homozygous mutation in the PDE6D gene on chromosome 2q37. OMIM:615665 JBTS22 DOID:0110991 Joubert syndrome 22 A Joubert syndrome that has_material_basis_in homozygous mutation in the PDE6D gene on chromosome 2q37. url:https://www.ncbi.nlm.nih.gov/pubmed/24166846 A Joubert syndrome characterized by delayed development, abnormal eye movements, and abnormal breathing pattern, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the KIAA0586 gene on chromosome 14q23. OMIM:616490 JBTS23 DOID:0110992 Joubert syndrome 23 A Joubert syndrome characterized by delayed development, abnormal eye movements, and abnormal breathing pattern, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the KIAA0586 gene on chromosome 14q23. url:https://www.ncbi.nlm.nih.gov/pubmed/26096313 A Joubert syndrome characterized by delayed psychomotor development and molar tooth sign on brain MRI that has_material_basis_in homozygous mutation in the TCTN2 gene on chromosome 12q24. OMIM:616654 JBTS24 DOID:0110993 Joubert syndrome 24 A Joubert syndrome characterized by delayed psychomotor development and molar tooth sign on brain MRI that has_material_basis_in homozygous mutation in the TCTN2 gene on chromosome 12q24. url:https://www.ncbi.nlm.nih.gov/pubmed/21565611 url:https://www.ncbi.nlm.nih.gov/pubmed/25118024 A Joubert syndrome characterized by delayed psychomotor development, oculomotor apraxia, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the CEP104 gene on chromosome 1p36. OMIM:616781 JBTS25 DOID:0110994 Joubert syndrome 25 A Joubert syndrome characterized by delayed psychomotor development, oculomotor apraxia, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the CEP104 gene on chromosome 1p36. url:https://www.ncbi.nlm.nih.gov/pubmed/26477546 A Joubert syndrome characterized by global developmental delay and cerebellar hypoplasia that has_material_basis_in homozygous mutation in the KIAA0556 gene on chromosome 16p12. OMIM:616784 JBTS26 DOID:0110995 Joubert syndrome 26 A Joubert syndrome characterized by global developmental delay and cerebellar hypoplasia that has_material_basis_in homozygous mutation in the KIAA0556 gene on chromosome 16p12. url:https://www.ncbi.nlm.nih.gov/pubmed/26714646 A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the B9D1 gene on chromosome 17p11. OMIM:617120 JBTS27 DOID:0110996 Joubert syndrome 27 A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the B9D1 gene on chromosome 17p11. url:https://www.ncbi.nlm.nih.gov/pubmed/24886560 A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKS1 gene on chromosome 17q23. OMIM:617121 JBTS28 DOID:0110997 Joubert syndrome 28 A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKS1 gene on chromosome 17q23. url:https://www.ncbi.nlm.nih.gov/pubmed/24886560 A Joubert syndrome that has_material_basis_in homozygous mutation in the AHI1 gene on chromosome 6q23.3. OMIM:608629 JBTS3 DOID:0110998 Joubert syndrome 3 A Joubert syndrome that has_material_basis_in homozygous mutation in the AHI1 gene on chromosome 6q23.3. url:https://www.ncbi.nlm.nih.gov/pubmed/15322546 A Joubert syndrome that has_material_basis_in deletions of the NPHP1 gene on chromosome 2q13. OMIM:609583 JBTS4 DOID:0110999 Joubert syndrome 4 A Joubert syndrome that has_material_basis_in deletions of the NPHP1 gene on chromosome 2q13. url:https://www.ncbi.nlm.nih.gov/pubmed/15138899 A Joubert syndrome that has_material_basis_in mutation in the CEP290 gene on chromosome 12q21. OMIM:610188 JBTS5 DOID:0111000 Joubert syndrome 5 A Joubert syndrome that has_material_basis_in mutation in the CEP290 gene on chromosome 12q21. url:https://www.ncbi.nlm.nih.gov/pubmed/16682973 A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 on chromosome 8q22. OMIM:610688 JBTS6 DOID:0111001 Joubert syndrome 6 A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 on chromosome 8q22. url:https://www.ncbi.nlm.nih.gov/pubmed/17160906 A Joubert syndrome that has_material_basis_in mutation in the RPGRIP1L gene on chromosome 16q12.2. OMIM:611560 JBTS7 DOID:0111002 Joubert syndrome 7 A Joubert syndrome that has_material_basis_in mutation in the RPGRIP1L gene on chromosome 16q12.2. url:https://www.ncbi.nlm.nih.gov/pubmed/17558409 A Joubert syndrome that has_material_basis_in mutation in the ARL13B gene on chromosome 3q11.1-q11.2 OMIM:612291 JBTS8 DOID:0111003 Joubert syndrome 8 A Joubert syndrome that has_material_basis_in mutation in the ARL13B gene on chromosome 3q11.1-q11.2 url:https://www.ncbi.nlm.nih.gov/pubmed/18674751 A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CC2D2A gene on chromosome 4p15. OMIM:612285 JBTS9 DOID:0111004 Joubert syndrome 9 A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CC2D2A gene on chromosome 4p15. url:https://www.ncbi.nlm.nih.gov/pubmed/18387594 A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the CRX gene on chromosome 19q13. OMIM:120970 CORD2 CRD2 RCRD2 cone-rod retinal dystrophy 2 retinal cone-rod dystrophy 2 DOID:0111005 cone-rod dystrophy 2 A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the CRX gene on chromosome 19q13. url:https://www.ncbi.nlm.nih.gov/pubmed/9390563 A cone-rod dystrophy that has_material_basis_in variation in the chromosome region Xq27. OMIM:300085 COD2 CORDX2 X-linked cone dystrophy 2 DOID:0111006 X-linked cone-rod dystrophy 2 A cone-rod dystrophy that has_material_basis_in variation in the chromosome region Xq27. url:https://www.ncbi.nlm.nih.gov/pubmed/9199568 A cone-rod dystrophy that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11. OMIM:300476 CORDX3 DOID:0111007 X-linked cone-rod dystrophy 3 A cone-rod dystrophy that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11. url:https://www.ncbi.nlm.nih.gov/pubmed/16505158 A cone-rod dystrophy that has_material_basis_in mutation in an alternative terminal exon 15 of the RPGR gene on chromosome Xp11. OMIM:304020 COD1 CORDX1 X-linked cone dystrophy 1 DOID:0111008 X-linked cone-rod dystrophy 1 A cone-rod dystrophy that has_material_basis_in mutation in an alternative terminal exon 15 of the RPGR gene on chromosome Xp11. url:https://www.ncbi.nlm.nih.gov/pubmed/11857109 A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 18q21.1-q21.3. OMIM:600624 CORD1 CRD1 DOID:0111009 cone-rod dystrophy 1 A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 18q21.1-q21.3. url:https://www.ncbi.nlm.nih.gov/pubmed/1867279 A cone-rod dystrophy that has_material_basis_in mutation in the PITPNM3 gene in chromosome region 17p13.2-p13.1. OMIM:600977 CORD5 DOID:0111010 cone-rod dystrophy 5 A cone-rod dystrophy that has_material_basis_in mutation in the PITPNM3 gene in chromosome region 17p13.2-p13.1. url:https://www.ncbi.nlm.nih.gov/pubmed/17377520 A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the GUCY2D gene on chromosome 17p13.1. OMIM:601777 CORD6 RCD2 retinal cone dystrophy 2 DOID:0111011 cone-rod dystrophy 6 A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the GUCY2D gene on chromosome 17p13.1. url:https://www.ncbi.nlm.nih.gov/pubmed/9618177 A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the RIMS1 gene on chromosome 6q13. OMIM:603649 CORD7 DOID:0111012 cone-rod dystrophy 7 A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the RIMS1 gene on chromosome 6q13. url:https://www.ncbi.nlm.nih.gov/pubmed/12659814 A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA4 on chromosome 1p22. OMIM:604116 CORD3 DOID:0111013 cone-rod dystrophy 3 A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA4 on chromosome 1p22. url:https://www.ncbi.nlm.nih.gov/pubmed/9466990 A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 1q12-q24. OMIM:605549 CORD8 DOID:0111014 cone-rod dystrophy 8 A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 1q12-q24. url:https://www.ncbi.nlm.nih.gov/pubmed/11053266 A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the RLBP1 gene on chromosome 15q26. OMIM:607476 NFRCD DOID:0111015 Newfoundland cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the RLBP1 gene on chromosome 15q26. url:https://www.ncbi.nlm.nih.gov/pubmed/11868161 A cone-rod dystrophy that has_material_basis_in mutation in the RPGRIP1 gene on chromosome 14q11.2. OMIM:608194 CORD13 DOID:0111016 cone-rod dystrophy 13 A cone-rod dystrophy that has_material_basis_in mutation in the RPGRIP1 gene on chromosome 14q11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/12920076 A cone-rod dystrophy that has_material_basis_in compound heterozygous mutation in the SEMA4A gene on chromosome 1q22. OMIM:610283 CORD10 DOID:0111017 cone-rod dystrophy 10 A cone-rod dystrophy that has_material_basis_in compound heterozygous mutation in the SEMA4A gene on chromosome 1q22. url:https://www.ncbi.nlm.nih.gov/pubmed/16199541 A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the RAX2 gene on chromosome 19p13. OMIM:610381 CORD11 DOID:0111018 cone-rod dystrophy 11 A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the RAX2 gene on chromosome 19p13. url:https://www.ncbi.nlm.nih.gov/pubmed/25789692 A cone-rod dystrophy that has_material_basis_in homozygous or heterozygous mutation in the PROM1 gene on chromosome 4p15. OMIM:612657 CORD12 DOID:0111019 cone-rod dystrophy 12 A cone-rod dystrophy that has_material_basis_in homozygous or heterozygous mutation in the PROM1 gene on chromosome 4p15. url:https://www.ncbi.nlm.nih.gov/pubmed/18654668 url:https://www.ncbi.nlm.nih.gov/pubmed/24474277 A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ADAM9 gene on chromosome 8p11. OMIM:612775 CORD9 DOID:0111020 cone-rod dystrophy 9 A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ADAM9 gene on chromosome 8p11. url:https://www.ncbi.nlm.nih.gov/pubmed/19409519 A cone-rod dystrophy that has_material_basis_in homozygous mutation in the CDHR1 gene on chromosome 10q23. OMIM:613660 CORD15 DOID:0111021 cone-rod dystrophy 15 A cone-rod dystrophy that has_material_basis_in homozygous mutation in the CDHR1 gene on chromosome 10q23. url:https://www.ncbi.nlm.nih.gov/pubmed/20805371 A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the C8ORF37 gene on chromosome 8q22. OMIM:614500 CORD16 retinal dystrophy with early macular involvement DOID:0111022 cone-rod dystrophy 16 A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the C8ORF37 gene on chromosome 8q22. url:https://www.ncbi.nlm.nih.gov/pubmed/26865426 A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 10q26. OMIM:615163 CORD17 DOID:0111023 cone-rod dystrophy 17 A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 10q26. url:https://www.ncbi.nlm.nih.gov/pubmed/22929024 A cone-rod dystrophy that has_material_basis_in homozygous mutation in the RAB28 gene on chromosome 4p15. OMIM:615374 CORD18 DOID:0111024 cone-rod dystrophy 18 A cone-rod dystrophy that has_material_basis_in homozygous mutation in the RAB28 gene on chromosome 4p15. url:https://www.ncbi.nlm.nih.gov/pubmed/23746546 A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the TTLL5 gene on chromosome 14q24. OMIM:615860 CORD19 DOID:0111025 cone-rod dystrophy 19 A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the TTLL5 gene on chromosome 14q24. url:https://www.ncbi.nlm.nih.gov/pubmed/24791901 A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POC1B gene on chromosome 12q21. OMIM:615973 CORD20 DOID:0111026 cone-rod dystrophy 20 A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POC1B gene on chromosome 12q21. url:https://www.ncbi.nlm.nih.gov/pubmed/24945461 url:https://www.ncbi.nlm.nih.gov/pubmed/25018096 A hemochromatosis type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the HJV gene on chromosome 1q21. OMIM:602390 HFE2A DOID:0111027 hemochromatosis type 2A A hemochromatosis type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the HJV gene on chromosome 1q21. url:https://www.ncbi.nlm.nih.gov/pubmed/14647275 A hemochromatosis that has_material_basis_in heterozygous mutation in the SLC40A1 gene on chromosome 2q32. ICD10CM:E83.1 MESH:C537249 OMIM:606069 ORDO:139491 UMLS_CUI:C1853733 HFE4 autosomal dominant hereditary hemochromatosis ferroportin disease hemochromatosis due to defect in ferroportin DOID:0111028 hemochromatosis type 4 A hemochromatosis that has_material_basis_in heterozygous mutation in the SLC40A1 gene on chromosome 2q32. url:https://www.ncbi.nlm.nih.gov/pubmed/11431687 A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the HFE gene on chromosome 6p22. ICD10CM:E83.1 OMIM:235200 ORDO:465508 HFE1 symptomatic form of HFE-related hereditary hemochromatosis symptomatic form of classic hemochromatosis symptomatic form of hemochromatosis type 1 DOID:0111029 hemochromatosis type 1 A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the HFE gene on chromosome 6p22. url:https://www.ncbi.nlm.nih.gov/pubmed/8696333 A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the TFR2 gene on chromosome 7q22. ICD10CM:E83.1 MESH:C537248 OMIM:604250 ORDO:225123 UMLS_CUI:C1858664 HFE3 TFR2-related hemochromatosis hemochromatosis due to defect in transferrin receptor 2 DOID:0111030 hemochromatosis type 3 A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the TFR2 gene on chromosome 7q22. url:https://www.ncbi.nlm.nih.gov/pubmed/10802645 A hemochromatosis that has_material_basis_in heterozygous mutation in the FTH1 gene on chromosome 11q12. ICD10CM:E83.1 OMIM:615517 ORDO:247790 FTH1-associated iron overload FTH1-related iron overload HFE5 DOID:0111031 hemochromatosis type 5 A hemochromatosis that has_material_basis_in heterozygous mutation in the FTH1 gene on chromosome 11q12. url:https://www.ncbi.nlm.nih.gov/pubmed/11389486 A hemochromatosis type 2 that has_material_basis_in homozygous mutation in the HAMP gene on chromosome 19q13. OMIM:613313 HFE2B DOID:0111032 hemochromatosis type 2B A hemochromatosis type 2 that has_material_basis_in homozygous mutation in the HAMP gene on chromosome 19q13. url:https://www.ncbi.nlm.nih.gov/pubmed/12469120 A hemochromatosis characterized by a predisposition to iron loading that is exacerbated by excessive intake of dietary iron, commonly related to consumption of tradition beer brewed in non-galvanized steel drums. ICD10CM:E83.1 OMIM:601195 ORDO:139507 Bantu siderosis iron overload in Africa DOID:0111033 African iron overload A hemochromatosis characterized by a predisposition to iron loading that is exacerbated by excessive intake of dietary iron, commonly related to consumption of tradition beer brewed in non-galvanized steel drums. url:https://www.ncbi.nlm.nih.gov/pubmed/10607817 A hemochromatosis characterized by autosomal recessive inheritance of early onset of severe iron loading with symptoms including; hypogonadotropic hypogonadism, cardiomyopathy, arthropathy, and liver fibrosis or cirrhosis. ICD10CM:E83.1 MESH:C537247 ORDO:79230 HFE2 JHH juvenile hemochromatosis DOID:0111034 hemochromatosis type 2 A hemochromatosis characterized by autosomal recessive inheritance of early onset of severe iron loading with symptoms including; hypogonadotropic hypogonadism, cardiomyopathy, arthropathy, and liver fibrosis or cirrhosis. url:https://www.ncbi.nlm.nih.gov/books/NBK1170/ url:https://www.ncbi.nlm.nih.gov/pubmed/10205270 A CADASIL characterized by migraine, strokes, and white matter lesions that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13. ICD10CM:F01.1 OMIM:125310 autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1 DOID:0111035 CADASIL 1 A CADASIL characterized by migraine, strokes, and white matter lesions that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13. url:https://www.ncbi.nlm.nih.gov/pubmed/10476042 url:https://www.ncbi.nlm.nih.gov/pubmed/8878478 A CADASIL characterized by stroke, transient ischemic attacks, cognitive impairment, dementia, balance impairment, gait disturbance, headaches, and/or seizures associated with early confluent or confluent diffuse white matter hyperintensities that has_material_basis_in heterozygous mutation in the HTRA1 gene on chromosome 10q26. ICD10CM:F01.1 OMIM:616779 autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2 DOID:0111036 CADASIL 2 A CADASIL characterized by stroke, transient ischemic attacks, cognitive impairment, dementia, balance impairment, gait disturbance, headaches, and/or seizures associated with early confluent or confluent diffuse white matter hyperintensities that has_material_basis_in heterozygous mutation in the HTRA1 gene on chromosome 10q26. url:https://www.ncbi.nlm.nih.gov/pubmed/26063658 A hypermethioninemia characterized by autosomal recessive inheritance of persistent isolated hypermethioninemia without cystathionine beta-synthase deficiency, tyrosinemia type I, or liver disease that has material_basis_in homozygous or compound heterozygous mutation in the GNMT gene on chromosome 6p21. ICD10CM:E72.1 OMIM:606664 ORDO:289891 GNMT deficiency hypermethioninemia due to GNMT deficiency hypermethioninemia due to glycine N-methyltransferase deficiency DOID:0111037 glycine N-methyltransferase deficiency A hypermethioninemia characterized by autosomal recessive inheritance of persistent isolated hypermethioninemia without cystathionine beta-synthase deficiency, tyrosinemia type I, or liver disease that has material_basis_in homozygous or compound heterozygous mutation in the GNMT gene on chromosome 6p21. url:https://www.ncbi.nlm.nih.gov/pubmed/1159664 url:https://www.ncbi.nlm.nih.gov/pubmed/11810299 A hypermethioninemia characterized by autosomal recessive inheritance of developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia that has material_basis_in homozygous mutation in the ADK gene on chromosome 10q22. ICD10CM:E72.1 OMIM:614300 ORDO:289290 ADK hypermethioninemia MRT8 autosomal recessive mental retardation 8 hypermethioninemia encephalopathy due to ADK deficiency hypermethioninemia encephalopathy due to adenosine kinase deficiency DOID:0111038 hypermethioninemia due to adenosine kinase deficiency A hypermethioninemia characterized by autosomal recessive inheritance of developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia that has material_basis_in homozygous mutation in the ADK gene on chromosome 10q22. url:https://www.ncbi.nlm.nih.gov/pubmed/17120046 url:https://www.ncbi.nlm.nih.gov/pubmed/21963049 A hypermethioninemia characterized by autosomal recessive inheritance of psychomotor delay, severe myopathy, hypermethioninaemia and elevated serum creatine kinase levels that has material_basis_in compound heterozygous mutation in the AHCY gene on chromosome 20q11. ICD10CM:E72.1 OMIM:613752 ORDO:88618 hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency DOID:0111039 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase A hypermethioninemia characterized by autosomal recessive inheritance of psychomotor delay, severe myopathy, hypermethioninaemia and elevated serum creatine kinase levels that has material_basis_in compound heterozygous mutation in the AHCY gene on chromosome 20q11. url:https://www.ncbi.nlm.nih.gov/pubmed/15024124 url:https://www.ncbi.nlm.nih.gov/pubmed/2380820 A glycogen storage disease IX characterized by X-linked inheritance of variable exercise-induced muscle weakness or stiffness that has material_basis_in mutation in the PHKA1 gene on chromosome Xq13. ICD10CM:E74.0 OMIM:300559 ORDO:715 GSD IXd GSD due to muscle phosphorylase kinase deficiency GSD type 9D GSD type 9E GSD type IXd GSD type IXe GSD9D X-linked muscke glycogenosis glycogen storage disease due to muscle phosphorylase kinase deficiency glycogen storage disease type 9D glycogen storage disease type 9E glycogen storage disease type IXd glycogen storage disease type IXe glycogenosis due to muscle phosphorylase kinase deficiency glycogenosis type 9D glycogenosis type 9E glycogenosis type IXd glycogenosis type IXe muscle phosphorylase kinase deficiency DOID:0111040 glycogen storage disease IXd A glycogen storage disease IX characterized by X-linked inheritance of variable exercise-induced muscle weakness or stiffness that has material_basis_in mutation in the PHKA1 gene on chromosome Xq13. url:https://www.ncbi.nlm.nih.gov/pubmed/22238410 url:https://www.ncbi.nlm.nih.gov/pubmed/7874115 A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, short stature, hypotonia and accumulation of glycogen in both liver and muscle, without clinical symptoms, that has material_basis_in compound heterozygous mutation in the PHKB gene on chromosome 16q12. ICD10CM:E74.0 OMIM:261750 ORDO:79240 GSD IXb GSD due to liver and muscle phosphorylase kinase deficiency GSD type 9B GSD type IXb GSD9B glycogen storage disease type 9B glycogen storage disease type IXb glycogenosis due to liver and muscle phosphorylase kinase deficiency glycogenosis type 9B glycogenosis type IXb DOID:0111041 glycogen storage disease IXb A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, short stature, hypotonia and accumulation of glycogen in both liver and muscle, without clinical symptoms, that has material_basis_in compound heterozygous mutation in the PHKB gene on chromosome 16q12. url:https://www.ncbi.nlm.nih.gov/pubmed/25266922 url:https://www.ncbi.nlm.nih.gov/pubmed/9215682 A glycogen storage disease IX characterized by X-linked inheritance of hepatomegaly, growth retardation, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis, but symptoms gradually disappear with age, that has material_basis_in mutation in the PHKA2 gene on chromosome Xp22. ICD10CM:E74.0 OMIM:306000 GSD type 9A GSD type IXa GSD9A glycogen storage disease type 9A glycogen storage disease type IXa glycogenosis type 9A glycogenosis type IXa DOID:0111042 glycogen storage disease IXa A glycogen storage disease IX characterized by X-linked inheritance of hepatomegaly, growth retardation, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis, but symptoms gradually disappear with age, that has material_basis_in mutation in the PHKA2 gene on chromosome Xp22. url:url:https://www.ncbi.nlm.nih.gov/pubmed/2303074 url:url:https://www.ncbi.nlm.nih.gov/pubmed/7711737 A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, hypotonia, growth retardation, and liver dysfunction with onset in childhood and improvement of symptoms with age that has material_basis_in homozygous and compound heterozygous mutation in the PHKG2 gene on chromosome 16p11. ICD10CM:E74.0 OMIM:613027 GSD type 9C GSD type IXc GSD9C glycogen storage disease type 9C glycogen storage disease type IXc glycogenosis type 9C glycogenosis type IXc DOID:0111043 glycogen storage disease IXc A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, hypotonia, growth retardation, and liver dysfunction with onset in childhood and improvement of symptoms with age that has material_basis_in homozygous and compound heterozygous mutation in the PHKG2 gene on chromosome 16p11. url:https://www.ncbi.nlm.nih.gov/pubmed/6962066 url:https://www.ncbi.nlm.nih.gov/pubmed/9384616 An inherited blood coagulation disease characterized by selective deficiency in the number and contents of platelet alpha-granules, macrothrombocytopenia, enlarged platelets, myelofibrosis, splenomegaly, and increased bleeding time that has material_basis_in homozygous or compound heterozygous mutation in the NBEAL2 gene on chromosome 3p21. ICD10CM:D69.1 MESH:D055652 OMIM:139090 UMLS_CUI:C0272302 BDPLT4 GPS platelet alpha-granule deficiency platelet-type bleeding disorder 4 DOID:0111044 gray platelet syndrome An inherited blood coagulation disease characterized by selective deficiency in the number and contents of platelet alpha-granules, macrothrombocytopenia, enlarged platelets, myelofibrosis, splenomegaly, and increased bleeding time that has material_basis_in homozygous or compound heterozygous mutation in the NBEAL2 gene on chromosome 3p21. url:https://www.ncbi.nlm.nih.gov/pubmed/17768118 url:https://www.ncbi.nlm.nih.gov/pubmed/21765411 url:https://www.ncbi.nlm.nih.gov/pubmed/21765412 url:https://www.ncbi.nlm.nih.gov/pubmed/21765413 An inherited blood coagulation disease characterized by autosomal dominant inheritance of mild thrombocytopenia, mild alpha-granue deficiency, defective platelet adhesion that has material_basis_in mutation in the ITGA2 gene on chromosome 5q11.2. ICD10CM:D69.8 OMIM:614200 ORDO:98886 BDPLT9 GP Ia deficiency collagen platelet receptor deficiency glycoprotein Ia deficiency DOID:0111045 platelet-type bleeding disorder 9 An inherited blood coagulation disease characterized by autosomal dominant inheritance of mild thrombocytopenia, mild alpha-granue deficiency, defective platelet adhesion that has material_basis_in mutation in the ITGA2 gene on chromosome 5q11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/2933589 url:https://www.ncbi.nlm.nih.gov/pubmed/2943331 An inherited blood coagulation disease characterized by autosomal recessive inheritance of variable bleeding tendency, thrombocytopenia, giant platelets, and prolonged bleeding times that has material_basis_in homozygous or compound heterozygous mutation in the CD36 antigen gene on chromosome 7q21. OMIM:608404 BDPLT10 CD36 deficiency platelet glycoprotein IV deficiency DOID:0111046 platelet-type bleeding disorder 10 An inherited blood coagulation disease characterized by autosomal recessive inheritance of variable bleeding tendency, thrombocytopenia, giant platelets, and prolonged bleeding times that has material_basis_in homozygous or compound heterozygous mutation in the CD36 antigen gene on chromosome 7q21. url:https://www.ncbi.nlm.nih.gov/pubmed/11499670 url:https://www.ncbi.nlm.nih.gov/pubmed/7506948 url:https://www.ncbi.nlm.nih.gov/pubmed/7686693 An inherited blood coagulation disease characterized by autosomal dominant inheritance of defective platelet aggegation, epistaxis, ecchymoses, and prolonged bleeding times that has material_basis_in mutation in the TBXAS1 gene on chromosome 7q34. OMIM:614158 BDPLT14 thromboxane synthase deficiency DOID:0111047 platelet-type bleeding disorder 14 An inherited blood coagulation disease characterized by autosomal dominant inheritance of defective platelet aggegation, epistaxis, ecchymoses, and prolonged bleeding times that has material_basis_in mutation in the TBXAS1 gene on chromosome 7q34. url:https://www.ncbi.nlm.nih.gov/pubmed/6268139 An inherited blood coagulation disease characterized by autosomal recessive inheritance of epistaxis, spontaneous hematomas, severe thrombocytopenia, menorrhagia, ovarian cyst ruptures, and abnormal megakaryocytic clusters that has material_basis_in homozygous mutation in the PRKACG gene on chromosome 9q21 ICD10CM:D69.4 OMIM:616176 ORDO:438207 BDPLT19 severe autosomal recessive macrothrombocytopenia DOID:0111048 platelet-type bleeding disorder 19 An inherited blood coagulation disease characterized by autosomal recessive inheritance of epistaxis, spontaneous hematomas, severe thrombocytopenia, menorrhagia, ovarian cyst ruptures, and abnormal megakaryocytic clusters that has material_basis_in homozygous mutation in the PRKACG gene on chromosome 9q21 url:https://www.ncbi.nlm.nih.gov/pubmed/25061177 An inherited blood coagulation disease characterized by autosomal dominant inheritance of increased bleeding tendency, gray platelets, thrombocytopenia, thrombasthenia, abnormal megakaryocytes, decreased or absent alpha-granules in platelets, and myelofibrosis that has material_basis_in heterozygous mutation in the GFI1B gene on chromosome 9q34. ICD10CM:D69.1 MESH:D055652 OMIM:187900 UMLS_CUI:C0272302 BDPLT17 hereditary thrombasthenia-thrombocytopenia DOID:0111049 platelet-type bleeding disorder 17 An inherited blood coagulation disease characterized by autosomal dominant inheritance of increased bleeding tendency, gray platelets, thrombocytopenia, thrombasthenia, abnormal megakaryocytes, decreased or absent alpha-granules in platelets, and myelofibrosis that has material_basis_in heterozygous mutation in the GFI1B gene on chromosome 9q34. url:https://www.ncbi.nlm.nih.gov/pubmed/24325358 url:https://www.ncbi.nlm.nih.gov/pubmed/5681484 An inherited blood coagulation disease characterized by autosomal dominant inheritance of delayed onset bleeding after challenge, moderate to severe bleeding tendencies, frequent ecchymoses, mucocutaneous bleeding, muscle and joint bleeds and platelet alpha-granule degredation that has material_basis_in heterozygous tandem duplication of the PLAU gene on chromosome 10q22. ICD10CM:D69.1 MESH:C536260 OMIM:601709 ORDO:220436 UMLS_CUI:C1866423 BDPLT5 factor V Quebec platelet-type bleeding disorder 5 DOID:0111050 Quebec platelet disorder An inherited blood coagulation disease characterized by autosomal dominant inheritance of delayed onset bleeding after challenge, moderate to severe bleeding tendencies, frequent ecchymoses, mucocutaneous bleeding, muscle and joint bleeds and platelet alpha-granule degredation that has material_basis_in heterozygous tandem duplication of the PLAU gene on chromosome 10q22. url:https://www.ncbi.nlm.nih.gov/pubmed/18988861 url:https://www.ncbi.nlm.nih.gov/pubmed/20007542 An inherited blood coagulation disease characterized by autosomal recessive inheritance of mucocutaneous bleeding, prolonged and severe epistaxis, hematomas and bleeding after tooth extraction that has material_basis_in homozygous mutation in the RASGRP2 gene on chromosome 11q13. ICD10CM:D69.1 OMIM:615888 ORDO:420566 BDPLT18 bleeding disorder due to CalDAG-GEFI deficiency bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency DOID:0111051 platelet-type bleeding disorder 18 An inherited blood coagulation disease characterized by autosomal recessive inheritance of mucocutaneous bleeding, prolonged and severe epistaxis, hematomas and bleeding after tooth extraction that has material_basis_in homozygous mutation in the RASGRP2 gene on chromosome 11q13. url:https://www.ncbi.nlm.nih.gov/pubmed/24958846 An inherited blood coagulation disease characterized by autosomal recessive inheritance of hemorrhagic episodes due to impaired platelet coagulant activity that has material_basis_in homozygous mutation in the TMEM16F gene on chromosome 12q12. ICD10CM:D69.8 OMIM:262890 ORDO:806 UMLS_CUI:C0796149 BDPLT7 SCTS bleeding abnormality due to deficiency of platelet biding of factor X familial prothrombin consumption inhibitor familial prothrombin conversion defect platelet-type bleeding disorder 7 prothrombin consumption deficiency DOID:0111052 Scott syndrome An inherited blood coagulation disease characterized by autosomal recessive inheritance of hemorrhagic episodes due to impaired platelet coagulant activity that has material_basis_in homozygous mutation in the TMEM16F gene on chromosome 12q12. url:https://www.ncbi.nlm.nih.gov/pubmed/12669124 url:https://www.ncbi.nlm.nih.gov/pubmed/21107324 An inherited blood coagulation disease characterized by autosomal dominant inheritance of macrothrombocytopenia with little or no bleeding tendency and normal in vitro platelet function that has material_basis_in heterozygous mutation in the ACTN1 gene on chromosome 14q. OMIM:615193 BDPLT15 autosomal dominant macrothrombocytopenia ACTN1-related DOID:0111053 platelet-type bleeding disorder 15 An inherited blood coagulation disease characterized by autosomal dominant inheritance of macrothrombocytopenia with little or no bleeding tendency and normal in vitro platelet function that has material_basis_in heterozygous mutation in the ACTN1 gene on chromosome 14q. url:https://www.ncbi.nlm.nih.gov/pubmed/23434115 A von Willebrand's disease characterized by autosomal recessive inheritance of a severe quantitative defect or virtual absence of VWF in plasma, prolonged bleeding time, and more severe bleeding tendencies compared to the other types of von Willebrand disease that has material_basis_in homozygous or compound heterozygous mutation in the VWF gene which maps to chromosome 12p13. ICD10CM:D68.0 MESH:D056729 OMIM:277480 ORDO:166096 UMLS_CUI:C1264041 VWD type 3 VWD3 von Willebrand disease type 3 von Willebrand disease type III DOID:0111054 von Willebrand's disease 3 A von Willebrand's disease characterized by autosomal recessive inheritance of a severe quantitative defect or virtual absence of VWF in plasma, prolonged bleeding time, and more severe bleeding tendencies compared to the other types of von Willebrand disease that has material_basis_in homozygous or compound heterozygous mutation in the VWF gene which maps to chromosome 12p13. url:https://www.ncbi.nlm.nih.gov/pubmed/19630771 url:https://www.ncbi.nlm.nih.gov/pubmed/3258663 An inherited blood coagulation disease characterized by autosomal dominant inheritance of increased bleeding tendency, thrombocytopenia, decreased platelet dense granules and ATP secretion, and impaired megakaryocyte maturation that has material_basis_in heterozygous mutation in the SLFN14 gene on chromosome 17q12. OMIM:616913 ORDO:466806 BDPLT20 autosomal dominant thrombocytopenia with platelet secretion defect DOID:0111055 platelet-type bleeding disorder 20 An inherited blood coagulation disease characterized by autosomal dominant inheritance of increased bleeding tendency, thrombocytopenia, decreased platelet dense granules and ATP secretion, and impaired megakaryocyte maturation that has material_basis_in heterozygous mutation in the SLFN14 gene on chromosome 17q12. url:https://www.ncbi.nlm.nih.gov/pubmed/26280575 url:https://www.ncbi.nlm.nih.gov/pubmed/26769223 A inherited blood coagulation disease characterized by enhanced binding of von Willebrand factor by the platelet glycoprotein Ib receptor complex that has material_basis_in mutation in the GP1BA gene on chromosome 17p13.2. ICD10CM:D69.8 OMIM:177820 ORDO:52530 BDPLT3 PT-VWD platelet type-von Willebrand disease pseudo-von Willebrand disease von Willebrand disease platelet-type DOID:0111056 platelet-type bleeding disorder 3 A inherited blood coagulation disease characterized by enhanced binding of von Willebrand factor by the platelet glycoprotein Ib receptor complex that has material_basis_in mutation in the GP1BA gene on chromosome 17p13.2. url:https://www.ncbi.nlm.nih.gov/pubmed/2052556 url:https://www.ncbi.nlm.nih.gov/pubmed/8486780 An inherited blood coagulation disease characterized by autosomal recessive inheritance of mild to moderate bleeding and defective platelet activation and aggregation in response to collagen that has material_basis_in compound heterozygous mutation in the GP6 gene on chromosome 19q13. ICD10CM:D69.8 OMIM:614201 ORDO:98885 BDPLT11 GP VI deficiency glycoprotein VI deficiency DOID:0111057 platelet-type bleeding disorder 11 An inherited blood coagulation disease characterized by autosomal recessive inheritance of mild to moderate bleeding and defective platelet activation and aggregation in response to collagen that has material_basis_in compound heterozygous mutation in the GP6 gene on chromosome 19q13. url:https://www.ncbi.nlm.nih.gov/pubmed/19549989 url:https://www.ncbi.nlm.nih.gov/pubmed/19552682 An inherited blood coagulation disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity. OMIM:605735 BDPLT12 PGHS1 deficiency platelet COX1 deficiency platelet cyclooxygenase 1 deficiency platelet prostaglandin-endoperoxide synthase 1 deficiency DOID:0111058 platelet-type bleeding disorder 12 An inherited blood coagulation disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity. url:https://www.ncbi.nlm.nih.gov/pubmed/8562397 A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has material_basis_in heterozygous mutations in the GP1BA gene on chromosome 17p. OMIM:153670 BSSA2 DOID:0111059 Bernard-Soulier syndrome type A2 A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has material_basis_in heterozygous mutations in the GP1BA gene on chromosome 17p. url:https://www.ncbi.nlm.nih.gov/pubmed/11222377 url:https://www.ncbi.nlm.nih.gov/pubmed/1730088 A hypertrichosis characterized by autosomal dominant inheritance of the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes that has material_basis_in chromosomal abnormalities in the region 8q22. ICD10CM:Q84.2 MESH:C536605 OMIM:145701 ORDO:1023 Ambras syndrome HTC1 DOID:0111060 Ambras type hypertrichosis universalis congenita A hypertrichosis characterized by autosomal dominant inheritance of the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes that has material_basis_in chromosomal abnormalities in the region 8q22. url:https://www.ncbi.nlm.nih.gov/pubmed/18328202 url:https://www.ncbi.nlm.nih.gov/pubmed/8275569 url:https://www.ncbi.nlm.nih.gov/pubmed/9712536 A hypobetalipoproteinemia that has material_basis_in homozygous or compound heterozygous mutation in the ANGPTL3 gene on chromosome 1p31. OMIM:605019 FHBL2 combined familial hypolipidemia DOID:0111061 familial hypobetalipoproteinemia 2 A hypobetalipoproteinemia that has material_basis_in homozygous or compound heterozygous mutation in the ANGPTL3 gene on chromosome 1p31. url:https://www.ncbi.nlm.nih.gov/pubmed/20942659 A hypobetalipoproteinemia that has material_basis_in mutation in the APOB gene on chromosome 2p24. OMIM:615558 FHBL1 DOID:0111062 familial hypobetalipoproteinemia 1 A hypobetalipoproteinemia that has material_basis_in mutation in the APOB gene on chromosome 2p24. url:https://www.ncbi.nlm.nih.gov/pubmed/3399894 A calcinosis characterized by autosomal recessive inheritance of elevated blood calcium levels and calcium phosphate crystals in cutaneous and subcutaneous tissues that has_material_basis_in mutation in the GALNT3 gene, the FGF23 gene, or the KL gene. ICD10CM:M11.2 OMIM:211900 ORDO:306661 HFTC HHS PHPTC cortical hyperostosis with hyperphosphatemia familial Teutschlaender disease familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome hypercalcemic tumoral calcinosis hyperostosis with hyperphosphatemia hyperphosphatemia hyperostosis hyperphosphatemia hyperostosis syndrome hyperphosphatemia tumoral calcinosis lipocalcinogranulomatosis morbus Teutschlaender primary hyperphosphatemic tumoral calcinosis tumoral calcinosis with hyperphosphatemia DOID:0111063 hyperphosphatemic familial tumoral calcinosis A calcinosis characterized by autosomal recessive inheritance of elevated blood calcium levels and calcium phosphate crystals in cutaneous and subcutaneous tissues that has_material_basis_in mutation in the GALNT3 gene, the FGF23 gene, or the KL gene. url:https://ghr.nlm.nih.gov/condition/hyperphosphatemic-familial-tumoral-calcinosis url:https://www.ncbi.nlm.nih.gov/pubmed/15133511 url:https://www.ncbi.nlm.nih.gov/pubmed/15590700 url:https://www.ncbi.nlm.nih.gov/pubmed/16151858 url:https://www.ncbi.nlm.nih.gov/pubmed/17710231 A spinal muscular atrophy characterized by autosomal recessive inheritance of severe respiratory distress resulting from diaphragmatic paralysis that predominantly involves the upper limbs and distal muscles that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13. ICD10CM:G12.2 OMIM:604320 ORDO:98920 DSMA1 SIANRF SMARD1 autosomal recessive spinal muscular atrophy with respiratory distress dHMN6 diaphragmatic spinal muscular atrophy distal hereditary motor neuropathy type 6 distal-HMN type 6 severe infantile axonal neuropathy with respiratory failure type 1 spinal muscular atrophy with respiratory distress type 1 DOID:0111064 autosomal recessive distal spinal muscular atrophy 1 A spinal muscular atrophy characterized by autosomal recessive inheritance of severe respiratory distress resulting from diaphragmatic paralysis that predominantly involves the upper limbs and distal muscles that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13. url:https://www.ncbi.nlm.nih.gov/pubmed/11528396 url:https://www.ncbi.nlm.nih.gov/pubmed/2801766 A spinal muscular atrophy characterized by autosomal recessive inheritance of distal muscle weakness and muscle wasting primarily affecting the upper and lower limbswith onset typically in the first decade of life that has_material_basis_in homozygous mutation in the SIGMAR1 gene on chromosome 9p13. ICD10CM:G12.2 OMIM:605726 ORDO:139552 UMLS_CUI:C1854023 DSMA2 dHMNJ distal hereditary motor neuropathy Jerash type spinal muscular atrophy Jerash type DOID:0111065 autosomal recessive distal spinal muscular atrophy 2 A spinal muscular atrophy characterized by autosomal recessive inheritance of distal muscle weakness and muscle wasting primarily affecting the upper and lower limbswith onset typically in the first decade of life that has_material_basis_in homozygous mutation in the SIGMAR1 gene on chromosome 9p13. url:https://www.ncbi.nlm.nih.gov/pubmed/26078401 A congenital bile acid synthesis defect characterized by hepatomegaly, liver fibrosis and failure, splenomegaly, and elevated plasma levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ABCD3 gene on chromosome 1p21. OMIM:616278 CBAS5 DOID:0111066 congenital bile acid synthesis defect 5 A congenital bile acid synthesis defect characterized by hepatomegaly, liver fibrosis and failure, splenomegaly, and elevated plasma levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ABCD3 gene on chromosome 1p21. url:https://www.ncbi.nlm.nih.gov/pubmed/25168382 A congenital bile acid synthesis defect characterized by increased liver enzymes, decreased cholesterol, and increased serum and urine levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ACOX2 gene on chromosome 3p14. OMIM:617308 CBAS6 DOID:0111067 congenital bile acid synthesis defect 6 A congenital bile acid synthesis defect characterized by increased liver enzymes, decreased cholesterol, and increased serum and urine levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ACOX2 gene on chromosome 3p14. url:https://www.ncbi.nlm.nih.gov/pubmed/27647924 url:https://www.ncbi.nlm.nih.gov/pubmed/27884763 A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, decreased serum cholesterol, and increased levels of THCA in bile, serum and urine that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13. ICD10CM:K76.8 MESH:C535444 OMIM:214950 ORDO:79095 UMLS_CUI:C1858328 CBAS4 intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid trihydroxycoprostanic acid in bile DOID:0111068 congenital bile acid synthesis defect 4 A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, decreased serum cholesterol, and increased levels of THCA in bile, serum and urine that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13. url:https://www.ncbi.nlm.nih.gov/pubmed/12512044 url:https://www.ncbi.nlm.nih.gov/pubmed/5064535 A congenital bile acid synthesis defect characterized by rapid progession of severe cholestatic liver disease, decreased levels of chenodeoxycholic acid and cholic acid in the serum and urine, and malabsorption of fat and fat-soluble vitamins that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1D1 gene on chromosome 7q33. ICD10CM:K76.8 MESH:C535443 OMIM:235555 ORDO:79303 UMLS_CUI:C1856127 CBAS2 cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency DOID:0111069 congenital bile acid synthesis defect 2 A congenital bile acid synthesis defect characterized by rapid progession of severe cholestatic liver disease, decreased levels of chenodeoxycholic acid and cholic acid in the serum and urine, and malabsorption of fat and fat-soluble vitamins that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1D1 gene on chromosome 7q33. ORDO:79303 url:https://www.ncbi.nlm.nih.gov/pubmed/12970144 url:https://www.ncbi.nlm.nih.gov/pubmed/3198770 A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, and increased serum bilirubin that has_material_basis_in homozygous mutation in the CYP7B1 gene on chromosome 8q12. ICD10CM:K76.8 MESH:C566340 OMIM:613812 ORDO:79302 UMLS_CUI:C3151147 CBAS3 oxysterol 7-alpha-hydroxylase deficiency DOID:0111070 congenital bile acid synthesis defect 3 A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, and increased serum bilirubin that has_material_basis_in homozygous mutation in the CYP7B1 gene on chromosome 8q12. url:https://www.ncbi.nlm.nih.gov/pubmed/9802883 A congenital bile acid synthesis defect characterized by progressive cholestatic liver disease, giant cell hepatitis, malabsorption of fat and fat-soluble vitamins, increased serum bilirubin and decreased serum cholesterol that has_material_basis_in homozygous or compound heterozygous mutation in the HSD3B7 gene on chromosome 16p. ICD10CM:K76.8 MESH:C535442 OMIM:607765 ORDO:79301 UMLS_CUI:C1843116 CBAS1 DOID:0111071 congenital bile acid synthesis defect 1 A congenital bile acid synthesis defect characterized by progressive cholestatic liver disease, giant cell hepatitis, malabsorption of fat and fat-soluble vitamins, increased serum bilirubin and decreased serum cholesterol that has_material_basis_in homozygous or compound heterozygous mutation in the HSD3B7 gene on chromosome 16p. url:https://www.ncbi.nlm.nih.gov/pubmed/11067870 url:https://www.ncbi.nlm.nih.gov/pubmed/3470305 A muscle tissue disease characterized by increased muscle bulk and strength that has material_basis_in homozygous mutation in the MSTN gene on chromosome 2q32.2. OMIM:614160 ORDO:275534 UMLS_CUI:C2931112 MSLHP DOID:0111072 myostatin-related muscle hypertrophy A muscle tissue disease characterized by increased muscle bulk and strength that has material_basis_in homozygous mutation in the MSTN gene on chromosome 2q32.2. url:https://www.ncbi.nlm.nih.gov/pubmed/15215484 A heart conduction disease characterized by autosomal dominant inheritance of a cardiac conduction defect that may progress to complete atrioventricular (AV) block and maybe asymptomatic of manifest as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death. OMIM:PS113900 ORDO:871 PFHB familial Lenegre disease familial Lev disease familial Lev-Lenegre disease familial PCCD familial progressive heart block hereditary bundle branch defect DOID:0111073 progressive familial heart block A heart conduction disease characterized by autosomal dominant inheritance of a cardiac conduction defect that may progress to complete atrioventricular (AV) block and maybe asymptomatic of manifest as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death. url:https://www.ncbi.nlm.nih.gov/pubmed/897853 A progressive familial heart block characterized by autosomal dominant inheritance of cardiac bundle branch disorder that may progress to complete heart block that has_material_basis_in mutation in the SCN5A gene on chromosome 3p21. OMIM:113900 PFHB1A DOID:0111074 progressive familial heart block type IA A progressive familial heart block characterized by autosomal dominant inheritance of cardiac bundle branch disorder that may progress to complete heart block that has_material_basis_in mutation in the SCN5A gene on chromosome 3p21. url:https://www.ncbi.nlm.nih.gov/pubmed/10471492 url:https://www.ncbi.nlm.nih.gov/pubmed/897853 A progressive familial heart block characterized by autosomal dominant inheritance of heart block that tends to develop along the lines of a sinus bradycardia with a left posterior hemiblock, presenting clinically as syncopal episodes, Stokes-Adams seizures, or sudden death when complete heart block supervenes that has_material_basis_in variation in the chromosome region 1q32. OMIM:140400 PFHB2 DOID:0111075 progressive familial heart block type II A progressive familial heart block characterized by autosomal dominant inheritance of heart block that tends to develop along the lines of a sinus bradycardia with a left posterior hemiblock, presenting clinically as syncopal episodes, Stokes-Adams seizures, or sudden death when complete heart block supervenes that has_material_basis_in variation in the chromosome region 1q32. url:https://www.ncbi.nlm.nih.gov/pubmed/16086176 url:https://www.ncbi.nlm.nih.gov/pubmed/897853 A progressive familial heart block characterized by that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13. OMIM:604559 PFHB1B DOID:0111076 progressive familial heart block type IB A progressive familial heart block characterized by that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13. url:https://www.ncbi.nlm.nih.gov/pubmed/19726882 url:https://www.ncbi.nlm.nih.gov/pubmed/897853 A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22. OMIM:266200 ORDO:766 PK deficiency hemolytic anemia due to red cell pyruvate kinase deficiency pyruvate kinase deficiency of erythrocyte DOID:0111077 pyruvate kinase deficiency of red cells A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22. url:https://www.ncbi.nlm.nih.gov/pubmed/1896471 url:https://www.ncbi.nlm.nih.gov/pubmed/728372 url:https://www.ncbi.nlm.nih.gov/pubmed/7706479 A distal muscular dystrophy characterized by autosomal dominant inheritance of late-onset muscular dystrophy beginning in the anterior comparment of the legs that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31. ICD10CM:G71.0 MESH:C536815 OMIM:600334 ORDO:609 UMLS_CUI:C1838244 Finnish tibial muscular dystrophy TMD Tardive tibial muscular dystrophy Udd myopathy Udd type distal myopathy distal titinopathy DOID:0111078 tibial muscular dystrophy A distal muscular dystrophy characterized by autosomal dominant inheritance of late-onset muscular dystrophy beginning in the anterior comparment of the legs that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31. url:https://www.ncbi.nlm.nih.gov/pubmed/12145747 url:https://www.ncbi.nlm.nih.gov/pubmed/196233 url:https://www.ncbi.nlm.nih.gov/pubmed/8503797 A posterior uveitis characterized by multiple small, hypopigmented, cream-colored choroidal lesions scattered symmetrically in the fundus primarily around the optic disc that presents in patients as blurred vision, floaters, photopsia, scotoma and nyctalopia. ICD10CM:H30.1 MESH:C537630 OMIM:605808 ORDO:179 UMLS_CUI:C1853959 BSCR birdshot chorioretinitis birdshot retinochoroiditis birdshot retinochoroidopathy vitiliginous choroiditis DOID:0111079 birdshot chorioretinopathy A posterior uveitis characterized by multiple small, hypopigmented, cream-colored choroidal lesions scattered symmetrically in the fundus primarily around the optic disc that presents in patients as blurred vision, floaters, photopsia, scotoma and nyctalopia. url:https://www.ncbi.nlm.nih.gov/pubmed/11226280 url:https://www.ncbi.nlm.nih.gov/pubmed/16263368 url:https://www.ncbi.nlm.nih.gov/pubmed/18214792 A Fanconi anemia that has_material_basis_in homozygous mutation in the MAD2L2 gene on chromosome 1p36. OMIM:617243 FANCV DOID:0111080 Fanconi anemia complementation group V A Fanconi anemia that has_material_basis_in homozygous mutation in the MAD2L2 gene on chromosome 1p36. url:https://www.ncbi.nlm.nih.gov/pubmed/27500492 A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the UBE2T gene on chromosome 1q32. OMIM:616435 FANCT DOID:0111081 Fanconi anemia complementation group T A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the UBE2T gene on chromosome 1q32. url:https://www.ncbi.nlm.nih.gov/pubmed/26046368 A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PHF9 gene on chromosome 2p16. OMIM:614083 FANCL DOID:0111082 Fanconi anemia complementation group L A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PHF9 gene on chromosome 2p16. url:https://www.ncbi.nlm.nih.gov/pubmed/12973351 url:https://www.ncbi.nlm.nih.gov/pubmed/19405097 A Fanconi anemia that has_material_basis_in compound heterozygous or homozygous mutation in the FANCD2 gene on chromosome 3p25. OMIM:227646 FA4 FAD2 FANCD2 Fanconi pancytopenia type 4 DOID:0111083 Fanconi anemia complementation group D2 A Fanconi anemia that has_material_basis_in compound heterozygous or homozygous mutation in the FANCD2 gene on chromosome 3p25. url:https://www.ncbi.nlm.nih.gov/pubmed/11239453 url:https://www.ncbi.nlm.nih.gov/pubmed/17436244 A Fanconi anemia that has_material_basis_in homozygous mutation in the FANCE gene on chromosome 6p22-p21. OMIM:600901 FACE FANCE DOID:0111084 Fanconi anemia complementation group E A Fanconi anemia that has_material_basis_in homozygous mutation in the FANCE gene on chromosome 6p22-p21. url:https://www.ncbi.nlm.nih.gov/pubmed/11001585 A Fanconi anemia that has_material_basis_in homozygous mutation in the XRCC2 gene on chromosome 7q36. OMIM:617247 FANCU DOID:0111085 Fanconi anemia complementation group U A Fanconi anemia that has_material_basis_in homozygous mutation in the XRCC2 gene on chromosome 7q36. url:https://www.ncbi.nlm.nih.gov/pubmed/22232082 A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the XRCC9 gene on chromosome 9p13. OMIM:614082 FANCG DOID:0111086 Fanconi anemia complementation group G A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the XRCC9 gene on chromosome 9p13. url:https://www.ncbi.nlm.nih.gov/pubmed/9806548 A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCC gene on chromosome 9q22. OMIM:227645 FA3 FACC FANCC Fanconi pancytopenia type 3 DOID:0111087 Fanconi anemia complementation group C A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCC gene on chromosome 9q22. url:https://www.ncbi.nlm.nih.gov/pubmed/1574115 url:https://www.ncbi.nlm.nih.gov/pubmed/9272737 A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCF gene on chromosome 11p15. OMIM:603467 FANCF DOID:0111088 Fanconi anemia complementation group F A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCF gene on chromosome 11p15. url:https://www.ncbi.nlm.nih.gov/pubmed/10615118 A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRCA2 gene on chromosome 13q13. OMIM:605724 FAD1 FANCD1 DOID:0111089 Fanconi anemia complementation group D1 A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRCA2 gene on chromosome 13q13. url:https://www.ncbi.nlm.nih.gov/pubmed/12065746 url:https://www.ncbi.nlm.nih.gov/pubmed/14670928 A Fanconi anemia that has_material_basis_in heterozygous mutation in the RAD51 gene on chromosome 15q15. OMIM:617244 FANCR DOID:0111090 Fanconi anemia complementation group R A Fanconi anemia that has_material_basis_in heterozygous mutation in the RAD51 gene on chromosome 15q15. url:https://www.ncbi.nlm.nih.gov/pubmed/26681308 A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCI gene on chromosome 15q26. OMIM:609053 FANCI DOID:0111091 Fanconi anemia complementation group I A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCI gene on chromosome 15q26. url:https://www.ncbi.nlm.nih.gov/pubmed/17452773 A Fanconi anemia characterized by increased chromosomal instability, progressive bone marrow failure and in some cases skeletal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the SLX4 gene on chromosome 16p13.3. OMIM:613951 FANCP DOID:0111092 Fanconi anemia complementation group P A Fanconi anemia characterized by increased chromosomal instability, progressive bone marrow failure and in some cases skeletal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the SLX4 gene on chromosome 16p13.3. url:https://www.ncbi.nlm.nih.gov/pubmed/21240275 url:https://www.ncbi.nlm.nih.gov/pubmed/21240277 A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the ERCC4 gene on chromosome 16p13. OMIM:615272 FANCQ DOID:0111093 Fanconi anemia complementation group Q A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the ERCC4 gene on chromosome 16p13. url:https://www.ncbi.nlm.nih.gov/pubmed/23623386 A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the PALB2 gene on chromosome 16p12. OMIM:610832 FANCN DOID:0111094 Fanconi anemia complementation group N A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the PALB2 gene on chromosome 16p12. url:https://www.ncbi.nlm.nih.gov/pubmed/17200671 url:https://www.ncbi.nlm.nih.gov/pubmed/17200672 A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCA gene on chromosome 16q24. OMIM:227650 FANCA DOID:0111095 Fanconi anemia complementation group A A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCA gene on chromosome 16q24. url:https://www.ncbi.nlm.nih.gov/pubmed/10094191 url:https://www.ncbi.nlm.nih.gov/pubmed/9371798 A Fanconi anemia that has_material_basis_in homozygous mutation in the RAD51C gene on chromosome 17q21-q24. OMIM:613390 FANCO DOID:0111096 Fanconi anemia complementation group O A Fanconi anemia that has_material_basis_in homozygous mutation in the RAD51C gene on chromosome 17q21-q24. url:https://www.ncbi.nlm.nih.gov/pubmed/20400963 A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRIP1 gene on chromosome 17q22. OMIM:609054 FANCJ DOID:0111097 Fanconi anemia complementation group J A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRIP1 gene on chromosome 17q22. url:https://www.ncbi.nlm.nih.gov/pubmed/16116424 A Fanconi anemia that has_material_basis_in mutation in the FANCB gene on chromosome Xp22. OMIM:300514 FA2 FACB FANCB Fanconi pancytopenia type 2 DOID:0111098 Fanconi anemia complementation group B A Fanconi anemia that has_material_basis_in mutation in the FANCB gene on chromosome Xp22. url:https://www.ncbi.nlm.nih.gov/pubmed/15502827 A maturity-onset diabetes of the young that has_material_basis_in mutation in the HNF4A gene on chromosome 20. OMIM:125850 MODY type 1 MODY1 mild juvenile diabetes mellitus DOID:0111099 maturity-onset diabetes of the young type 1 A maturity-onset diabetes of the young that has_material_basis_in mutation in the HNF4A gene on chromosome 20. url:https://www.ncbi.nlm.nih.gov/pubmed/9294105 A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the GCK gene on chromosome 7p13. OMIM:125851 MODY glucokinase-related MODY type 2 MODY2 DOID:0111100 maturity-onset diabetes of the young type 2 A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the GCK gene on chromosome 7p13. url:https://www.ncbi.nlm.nih.gov/pubmed/1570017 A maturity-onset diabetes of the young characterized by abnormal renal development resuting in non-diabetic kidney disease and diabetes that has_material_basis_in mutation in the HNF1B gene on chromosome 17q12. OMIM:137920 CAKUT with diabetes MODY5 RCAD atypical FJHN atypical familial juvenile hyperuricemic nephropathy congenital anomalies of the kidney and urinary tract with diabetes familial hypoplastic glomerulocystic kidney hypoplastic type glomerulocystic kidney disease renal cysts and diabetes syndrome DOID:0111101 maturity-onset diabetes of the young type 5 A maturity-onset diabetes of the young characterized by abnormal renal development resuting in non-diabetic kidney disease and diabetes that has_material_basis_in mutation in the HNF1B gene on chromosome 17q12. url:https://www.ncbi.nlm.nih.gov/pubmed/11085914 url:https://www.ncbi.nlm.nih.gov/pubmed/15930087 A maturity-onset diabetes of the young that has_material_basis_in mutation in the HNF1A gene on chromosome 12q24.31. OMIM:600496 MODY type 3 MODY3 DOID:0111102 maturity-onset diabetes of the young type 3 A maturity-onset diabetes of the young that has_material_basis_in mutation in the HNF1A gene on chromosome 12q24.31. url:https://www.ncbi.nlm.nih.gov/pubmed/11575290 url:https://www.ncbi.nlm.nih.gov/pubmed/7795649 A maturity-onset diabetes of the young that has_material_basis_in mutation in the PDX1 gene on chromosome 13q12.2. OMIM:606392 MODY type 4 MODY4 DOID:0111103 maturity-onset diabetes of the young type 4 A maturity-onset diabetes of the young that has_material_basis_in mutation in the PDX1 gene on chromosome 13q12.2. url:https://www.ncbi.nlm.nih.gov/pubmed/9326926 A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the NEUROD1 gene on chromosome 2q31. OMIM:606394 MODY type 6 MODY6 DOID:0111104 maturity-onset diabetes of the young type 6 A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the NEUROD1 gene on chromosome 2q31. url:https://www.ncbi.nlm.nih.gov/pubmed/10545951 A maturity-onset diabetes of the young that has_material_basis_in frameshift deletions in the variable number of tandem repeats of the CEL gene om chromosome 9q34.13. OMIM:609812 MODY type 8 MODY8 diabetes and pancreatic exocrine maturity-onset diabetes of the young type 8 with exocrine dysfunction DOID:0111105 maturity-onset diabetes of the young type 8 A maturity-onset diabetes of the young that has_material_basis_in frameshift deletions in the variable number of tandem repeats of the CEL gene om chromosome 9q34.13. url:https://www.ncbi.nlm.nih.gov/pubmed/16369531 A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the KLF11 gene on chromosome 2p25. OMIM:610508 MODY7 DOID:0111106 maturity-onset diabetes of the young type 7 A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the KLF11 gene on chromosome 2p25. url:https://www.ncbi.nlm.nih.gov/pubmed/15774581 A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the PAX4 gene on chromosome 7q32.1. OMIM:612225 MODY9 DOID:0111107 maturity-onset diabetes of the young type 9 A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the PAX4 gene on chromosome 7q32.1. url:https://www.ncbi.nlm.nih.gov/pubmed/17426099 A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the INS gene on chromosome 11p15.5. OMIM:613370 MODY10 DOID:0111108 maturity-onset diabetes of the young type 10 A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the INS gene on chromosome 11p15.5. url:https://www.ncbi.nlm.nih.gov/pubmed/18162506 A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the BLK gene on chromosome 8p23-p22. OMIM:613375 MODY11 DOID:0111109 maturity-onset diabetes of the young type 11 A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the BLK gene on chromosome 8p23-p22. url:https://www.ncbi.nlm.nih.gov/pubmed/19667185 A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the KCNJ11 gene on chromosome 11p15. OMIM:616329 MODY type 13 MODY13 DOID:0111110 maturity-onset diabetes of the young type 13 A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the KCNJ11 gene on chromosome 11p15. url:https://www.ncbi.nlm.nih.gov/pubmed/15784703 A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the APPL1 gene on chromosome 3p14. OMIM:616511 MODY14 DOID:0111111 maturity-onset diabetes of the young type 14 A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the APPL1 gene on chromosome 3p14. url:https://www.ncbi.nlm.nih.gov/pubmed/26073777 A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in or deletion of the NPHP1 gene on chromosome 2q13. OMIM:256100 NPH1 NPHP1 juvenile nephronophthisis 1 DOID:0111112 nephronophthisis 1 A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in or deletion of the NPHP1 gene on chromosome 2q13. url:https://www.ncbi.nlm.nih.gov/pubmed/9326933 url:https://www.ncbi.nlm.nih.gov/pubmed/9361039 A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the INVS gene on chromosome 9q31. OMIM:602088 NPH2 NPHP2 infantile nephronophthisis 2 DOID:0111113 nephronophthisis 2 A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the INVS gene on chromosome 9q31. url:https://www.ncbi.nlm.nih.gov/pubmed/12872123 A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the NPHP3 gene on chromosome 3q22. OMIM:604387 NPH3 NPHP3 DOID:0111114 nephronophthisis 3 A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the NPHP3 gene on chromosome 3q22. url:https://www.ncbi.nlm.nih.gov/pubmed/12872122 A nephronophthisis that has_material_basis_in mutation in the NPHP4 gene on chromosome 1p36.31. OMIM:606966 NPHP4 juvenile nephronophthisis 4 DOID:0111115 nephronophthisis 4 A nephronophthisis that has_material_basis_in mutation in the NPHP4 gene on chromosome 1p36.31. url:https://www.ncbi.nlm.nih.gov/pubmed/12244321 A nephronophthisis that has_material_basis_in homozygous mutation in the GLIS2 gene on chromosome 16p13. OMIM:611498 NPHP7 DOID:0111116 nephronophthisis 7 A nephronophthisis that has_material_basis_in homozygous mutation in the GLIS2 gene on chromosome 16p13. url:https://www.ncbi.nlm.nih.gov/pubmed/17618285 A nephronophthisis that has_material_basis_in homozygous mutation in the XPNPEP3 gene on chromosome 22q13.2. OMIM:613159 NPHPL1 DOID:0111117 nephronophthisis-like nephropathy 1 A nephronophthisis that has_material_basis_in homozygous mutation in the XPNPEP3 gene on chromosome 22q13.2. url:https://www.ncbi.nlm.nih.gov/pubmed/20179356 A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1. OMIM:613550 NPHP11 DOID:0111118 nephronophthisis 11 A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/19508969 A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TTC21B gene on chromosome 2q24. OMIM:613820 NPHP12 DOID:0111119 nephronophthisis 12 A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TTC21B gene on chromosome 2q24. url:https://www.ncbi.nlm.nih.gov/pubmed/21258341 A nephronophthisis that has_material_basis_in homozygous mutation in the NEK8 gene on chromosome 17q11. OMIM:613824 NPHP9 DOID:0111120 nephronophthisis 9 A nephronophthisis that has_material_basis_in homozygous mutation in the NEK8 gene on chromosome 17q11. url:https://www.ncbi.nlm.nih.gov/pubmed/18199800 A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14. OMIM:614377 NPHP13 DOID:0111121 nephronophthisis 13 A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14. url:https://www.ncbi.nlm.nih.gov/pubmed/22019273 A nephronophthisis that has_material_basis_in homozygous mutation in the ZNF423 gene on chromosome 16q12.1 OMIM:614844 NPHP14 DOID:0111122 nephronophthisis 14 A nephronophthisis that has_material_basis_in homozygous mutation in the ZNF423 gene on chromosome 16q12.1 url:https://www.ncbi.nlm.nih.gov/pubmed/22863007 A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP164 gene on chromosome 11q. OMIM:614845 NPHP15 DOID:0111123 nephronophthisis 15 A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP164 gene on chromosome 11q. url:https://www.ncbi.nlm.nih.gov/pubmed/22863007 A nephronophthisis that has_material_basis_in homozygous mutation in the ANKS6 gene on chromosome 9q22. OMIM:615382 NPHP16 DOID:0111124 nephronophthisis 16 A nephronophthisis that has_material_basis_in homozygous mutation in the ANKS6 gene on chromosome 9q22. url:https://www.ncbi.nlm.nih.gov/pubmed/23793029 A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP83 gene on chromosome 12q22. OMIM:615862 NPHP18 DOID:0111125 nephronophthisis 18 A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP83 gene on chromosome 12q22. url:https://www.ncbi.nlm.nih.gov/pubmed/24882706 A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the DCDC2 gene on chromosome 6p22. OMIM:616217 NPHP19 DOID:0111126 nephronophthisis 19 A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the DCDC2 gene on chromosome 6p22. url:https://www.ncbi.nlm.nih.gov/pubmed/25557784 A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the MAPKBP1 gene on chromosome 15q15. OMIM:617271 NPHP20 DOID:0111127 nephronophthisis 20 A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the MAPKBP1 gene on chromosome 15q15. url:https://www.ncbi.nlm.nih.gov/pubmed/28089251 A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of ACTN4 on chromosome 19q13.2. ICD10CM:N04.1 OMIM:603278 FSGS1 DOID:0111128 focal segmental glomerulosclerosis 1 A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of ACTN4 on chromosome 19q13.2. url:https://www.ncbi.nlm.nih.gov/pubmed/1429048 A focal segmental glomerulosclerosis that has_material_basis_in a mutation of TRPC6 on chromosome 11q22.1. ICD10CM:N04.1 OMIM:603965 FSGS2 DOID:0111129 focal segmental glomerulosclerosis 2 A focal segmental glomerulosclerosis that has_material_basis_in a mutation of TRPC6 on chromosome 11q22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/15924139 A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of INF2 on chromosome 14q32.33. ICD10CM:N04.1 OMIM:613237 FSGS5 DOID:0111130 focal segmental glomerulosclerosis 5 A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of INF2 on chromosome 14q32.33. url:https://www.ncbi.nlm.nih.gov/pubmed/20023659 A focal segmental glomerulosclerosis that has_material_basis_in an autosomal recessive mutation of MYO1E on chromosome 15q22.2. ICD10CM:N04.1 OMIM:614131 FSGS6 DOID:0111131 focal segmental glomerulosclerosis 6 A focal segmental glomerulosclerosis that has_material_basis_in an autosomal recessive mutation of MYO1E on chromosome 15q22.2. url:https://www.ncbi.nlm.nih.gov/pubmed/21756023 A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of PAX2 on chromosome 10q24.31. ICD10CM:N04.1 OMIM:616002 FSGS7 DOID:0111132 focal segmental glomerulosclerosis 7 A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of PAX2 on chromosome 10q24.31. url:https://www.ncbi.nlm.nih.gov/pubmed/24676634 A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of ANLN on chromosome 7p14.2. ICD10CM:N04.1 OMIM:616032 FSGS8 DOID:0111133 focal segmental glomerulosclerosis 8 A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of ANLN on chromosome 7p14.2. url:https://www.ncbi.nlm.nih.gov/pubmed/24676636 A focal segmental glomerulosclerosis that has_material_basis_in an autosomal recessive mutation of CRB2 on chromosome 9q33.3. ICD10CM:N04.1 OMIM:616220 FSGS9 DOID:0111134 focal segmental glomerulosclerosis 9 A focal segmental glomerulosclerosis that has_material_basis_in an autosomal recessive mutation of CRB2 on chromosome 9q33.3. url:https://www.ncbi.nlm.nih.gov/pubmed/25557779 A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of AGPAT2 on chromosome 9q34.3. ICD10CM:E88.1 OMIM:608594 BSCL1 Berardinelli-Seip Congenital Lipodystrophy, Type 1 Brunzell syndrome AGPAT2-related CGL1 DOID:0111135 congenital generalized lipodystrophy type 1 A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of AGPAT2 on chromosome 9q34.3. url:https://www.ncbi.nlm.nih.gov/pubmed/11967537 A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of BSCL2 on chromosome 11q12.3. ICD10CM:E88.1 OMIM:269700 Berardinelli-Seip congenital lipodystrophy type 2 Brunzell syndrome BSCL2-related CGL2 congenital lipoatrophic diabetes total lipodystrophy and acromegaloid gigantism DOID:0111136 congenital generalized lipodystrophy type 2 A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of BSCL2 on chromosome 11q12.3. url:https://www.ncbi.nlm.nih.gov/pubmed/11479539 A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAV1 on chromosome 7q31.2. ICD10CM:E88.1 OMIM:612526 BSCL3 Berardinelli-Seip congenital lipodystrophy type 3 CGL3 DOID:0111137 congenital generalized lipodystrophy type 3 A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAV1 on chromosome 7q31.2. url:https://www.ncbi.nlm.nih.gov/pubmed/18237401 A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of PTRF on chromosome 17q21.2. ICD10CM:E88.1 OMIM:613327 ORDO:228429 BSCL4 Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy Brunzell syndrome AGPAT2-related CGL4 GCL4 generalized congenital lipodystrophy type 4 generalized congenital lipodystrophy with myopathy DOID:0111138 congenital generalized lipodystrophy type 4 A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of PTRF on chromosome 17q21.2. url:https://www.ncbi.nlm.nih.gov/pubmed/19726876 An intestinal disease that involves intestinal infection that has material basis in viruses, bacteria, fungi and parasites. DOID:10960 DOID:12509 DOID:5270 ICD10CM:A00-A09 ICD9CM:001-009.99 SNOMEDCT_US_2016_03_01:127322007 SNOMEDCT_US_2016_03_01:186086003 SNOMEDCT_US_2016_03_01:186171006 SNOMEDCT_US_2016_03_01:187266003 SNOMEDCT_US_2016_03_01:266071000 SNOMEDCT_US_2016_03_01:266172005 SNOMEDCT_US_2016_03_01:266180003 UMLS_CUI:C0178238 bacterial enteritis disease_ontology DOID:100 Updating outdated UMLS CUI. intestinal infectious disease An intestinal disease that involves intestinal infection that has material basis in viruses, bacteria, fungi and parasites. url:http://en.wikipedia.org/wiki/Intestine disease_ontology DOID:10000 visual cortex disorder due to neoplasm true DOID:11053 DOID:12112 DOID:12114 ICD10CM:H90.5 ICD10CM:H91.9 ICD9CM:389.1 ICD9CM:389.10 ICD9CM:389.14 MESH:D006313 MESH:D006316 MESH:D006319 NCI:C26739 NCI:C34662 NCI:C34663 OMIM:304400 SNOMEDCT_US_2016_03_01:155256000 SNOMEDCT_US_2016_03_01:194421002 SNOMEDCT_US_2016_03_01:194427003 SNOMEDCT_US_2016_03_01:232326009 SNOMEDCT_US_2016_03_01:267770004 SNOMEDCT_US_2016_03_01:48758008 SNOMEDCT_US_2016_03_01:60700002 SNOMEDCT_US_2016_03_01:68467004 UMLS_CUI:C0018776 UMLS_CUI:C0018780 UMLS_CUI:C0018784 High Frequency Hearing Loss High frequency deafness Perceptive deafness Perceptive hearing loss Perceptive hearing loss or deafness Sensorineural Deafness Sensory hearing loss central hearing loss high-frequency hearing loss disease_ontology DOID:10003 OMIM mapping confirmed by DO. [LS]. sensorineural hearing loss High Frequency Hearing Loss NCI2004_11_17:C34663 High frequency deafness SNOMEDCT_2005_07_31:194421002 Perceptive deafness SNOMEDCT_2005_07_31:267770004 Perceptive hearing loss SNOMEDCT_2005_07_31:194421002 Perceptive hearing loss or deafness MTHICD9_2006:389.1 Sensorineural Deafness NCI2004_11_17:C26739 Sensory hearing loss ICD9CM_2006:389.11 central hearing loss ICD9CM_2006:389.14 A respiratory syncytial virus infectious disease that results_in inflammation located_in bronchiole, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. Infection is characterized by inflammation, edema, and necrosis of the small airway epithelium with associated bronchospasm and increased mucous production. DOID:10006 DOID:2941 acute bronchiolitis due to RSV capillary pneumonia viral bronchiolitis disease_ontology DOID:10007 respiratory syncytial virus bronchiolitis true A respiratory syncytial virus infectious disease that results_in inflammation located_in bronchiole, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. Infection is characterized by inflammation, edema, and necrosis of the small airway epithelium with associated bronchospasm and increased mucous production. url:http://en.wikipedia.org/wiki/Bronchiolitis url:http://www.pubmedcentral.nih.gov/picrender.fcgi?artid=2621418&blobtype=pdf acute bronchiolitis due to RSV MTHICD9_2006:466.11 Labour complications disease_ontology DOID:1001 labor complications true Labour complications SNOMEDCT_2005_07_31:267342003 NCI:C5265 UMLS_CUI:C1336753 disease_ontology DOID:10011 thyroid lymphoma metastatic tumor to the Thyroid secondary malignant neoplasm of thyroid gland disease_ontology DOID:10012 metastatic malignant neoplasm to the thyroid true metastatic tumor to the Thyroid NCI2004_11_17:C7509 secondary malignant neoplasm of thyroid gland SNOMEDCT_2005_07_31:94634005 disease_ontology DOID:10013 polyglandular activity in multiple endocrine adenomatosis true disease_ontology DOID:10015 polyglandular dysfunction true An autosomal dominant disease characterized by medullary thyroid carcinoma, pheochromocytoma, multiple mucosal neuromas and intestinal ganglioneuromas, and often a marfanoid habitus and other skeletal abnormalities. ICD10CM:E31.23 ICD9CM:258.03 MESH:D018814 NCI:C3227 OMIM:162300 ORDO:247709 SNOMEDCT_US_2016_03_01:61530001 UMLS_CUI:C0025269 MEN type IIB MEN2B Multiple endocrine neoplasia, type 3 Wagenmann-Froboese syndrome mucosal neuroma syndrome multiple endocrine neoplasia type 2b disease_ontology DOID:10016 OMIM mapping confirmed by DO. [SN]. multiple endocrine neoplasia type 2B An autosomal dominant disease characterized by medullary thyroid carcinoma, pheochromocytoma, multiple mucosal neuromas and intestinal ganglioneuromas, and often a marfanoid habitus and other skeletal abnormalities. url:http://en.wikipedia.org/wiki/Multiple_endocrine_neoplasia_type_2b url:http://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia url:http://www.merckmanuals.com/professional/endocrine_and_metabolic_disorders/multiple_endocrine_neoplasia_men_syndromes/multiple_endocrine_neoplasia_type_2b_men_2b.html url:http://www.ncbi.nlm.nih.gov/pubmed/15965261 url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1244/viewAbstract MEN type IIB NCI2004_11_17:C3227 Multiple endocrine neoplasia, type 3 SNOMEDCT_2005_07_31:61530001 mucosal neuroma syndrome CSP2005:2009-6300 An autosomal dominant disease that has_material_basis_in a mutation in the MEN1 tumor suppressor gene and is characterized by over active endocrine glands frequently involving tumors of the parathyroid glands, the pituitary gland, and the pancreas. ICD10CM:E31.21 ICD9CM:258.01 MESH:D018761 NCI:C3225 OMIM:131100 ORDO:652 SNOMEDCT_US_2016_03_01:190566000 SNOMEDCT_US_2016_03_01:30664006 UMLS_CUI:C0025267 MEN type I Wermer syndrome Wermer's syndrome multiple endocrine neoplasia type 1 disease_ontology DOID:10017 OMIM mapping confirmed by DO. [SN]. multiple endocrine neoplasia type 1 An autosomal dominant disease that has_material_basis_in a mutation in the MEN1 tumor suppressor gene and is characterized by over active endocrine glands frequently involving tumors of the parathyroid glands, the pituitary gland, and the pancreas. url:http://en.wikipedia.org/wiki/Multiple_endocrine_neoplasia_type_1 url:http://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia url:http://www.ncbi.nlm.nih.gov/pubmed/25509899 url:http://www.nlm.nih.gov/medlineplus/ency/article/000398.htm MEN type I NCI2004_11_17:C3225 Wermer's syndrome MTHICD9_2006:258.0 disease_ontology DOID:10018 papilledema associated with increased intracranial pressure true MESH:D004716 NCI:C26764 SNOMEDCT_US_2016_03_01:155975003 SNOMEDCT_US_2016_03_01:198192000 SNOMEDCT_US_2016_03_01:266652001 SNOMEDCT_US_2016_03_01:266653006 SNOMEDCT_US_2016_03_01:78623009 UMLS_CUI:C0014179 disease_ontology DOID:1002 endometritis ICD10CM:C24.1 ICD9CM:156.2 NCI:C3536 SNOMEDCT_US_2016_03_01:363417006 SNOMEDCT_US_2016_03_01:93668007 UMLS_CUI:C0153454 malignant tumour of ampulla of vater disease_ontology DOID:10020 ampulla of Vater cancer malignant tumour of ampulla of vater SNOMEDCT_2005_07_31:93668007 A small intestine cancer that is located_in the beginning section of the small intestine. DOID:6072 ICD10CM:C17.0 ICD9CM:152.0 MESH:D004379 NCI:C4803 NCI:C9328 SNOMEDCT_US_2016_03_01:154555009 SNOMEDCT_US_2016_03_01:254570009 SNOMEDCT_US_2016_03_01:269615000 SNOMEDCT_US_2016_03_01:363403002 UMLS_CUI:C0153426 UMLS_CUI:C0541912 Duodenal cancer cancer of duodenum duodenal neoplasm disease_ontology DOID:10021 duodenum cancer A small intestine cancer that is located_in the beginning section of the small intestine. url:http://en.wikipedia.org/wiki/Duodenal_cancer Duodenal cancer SNOMEDCT_2005_07_31:363403002 cancer of duodenum NCI2004_11_17:C4803 NCI:C4443 SNOMEDCT_US_2016_03_01:126858004 UMLS_CUI:C0345916 tumor of the ampulla of Vater disease_ontology DOID:10022 ampulla of Vater neoplasm tumor of the ampulla of Vater NCI2004_11_17:C4443 A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon. DOID:10025 ICD10CM:G43.1 ICD10CM:G43.109 ICD9CM:346.0 MESH:D020325 NCI:C117005 OMIM:609179 OMIM:609670 SNOMEDCT_US_2016_03_01:155047002 SNOMEDCT_US_2016_03_01:4473006 UMLS_CUI:C0154723 classic migraine disease_ontology DOID:10024 Xref MGI. migraine with aura A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon. url:http://en.wikipedia.org/wiki/Migraine url:http://www.mayoclinic.org/diseases-conditions/migraine-with-aura/basics/definition/con-20030404 A tertiary neurosyphilis that results_in slow degeneration of the nerve cells and nerve fibers that carry sensory information to the brain. The infection has_symptom intense, stabbing pain in the back and legs that recurs irregularly, has_symptom gait ataxia, has_symptom hyperesthesia, has_symptom paresthesia, has_symptom loss of bladder sensation leading to urine retention, has_symptom erectile dysfunction. ICD10CM:A52.11 ICD9CM:094.0 MESH:D013606 NCI:C35057 SNOMEDCT_US_2016_03_01:154384001 SNOMEDCT_US_2016_03_01:186885003 SNOMEDCT_US_2016_03_01:266134000 SNOMEDCT_US_2016_03_01:266210001 SNOMEDCT_US_2016_03_01:2844004 SNOMEDCT_US_2016_03_01:315826004 SNOMEDCT_US_2016_03_01:316841006 SNOMEDCT_US_2016_03_01:51928006 UMLS_CUI:C0039223 Posterior spinal sclerosis Tabes dorsalis - neurosyphilis disease_ontology DOID:10027 tabes dorsalis A tertiary neurosyphilis that results_in slow degeneration of the nerve cells and nerve fibers that carry sensory information to the brain. The infection has_symptom intense, stabbing pain in the back and legs that recurs irregularly, has_symptom gait ataxia, has_symptom hyperesthesia, has_symptom paresthesia, has_symptom loss of bladder sensation leading to urine retention, has_symptom erectile dysfunction. url:http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh url:http://www.ninds.nih.gov/disorders/tabes_dorsalis/tabes_dorsalis.htm Posterior spinal sclerosis MTHICD9_2006:094.0 Tabes dorsalis - neurosyphilis SNOMEDCT_2005_07_31:186885003 ICD10CM:N70-N77 ICD10CM:N73.9 ICD9CM:614-616.99 ICD9CM:614.9 MESH:D000292 NCI:C3889 SNOMEDCT_US_2016_03_01:155967009 SNOMEDCT_US_2016_03_01:155968004 SNOMEDCT_US_2016_03_01:155974004 SNOMEDCT_US_2016_03_01:155986001 SNOMEDCT_US_2016_03_01:198130006 SNOMEDCT_US_2016_03_01:198131005 SNOMEDCT_US_2016_03_01:198178006 SNOMEDCT_US_2016_03_01:198244005 SNOMEDCT_US_2016_03_01:198570007 SNOMEDCT_US_2016_03_01:266584000 SNOMEDCT_US_2016_03_01:266648001 SNOMEDCT_US_2016_03_01:266651008 SNOMEDCT_US_2016_03_01:37518008 UMLS_CUI:C0242172 PID disease_ontology DOID:1003 pelvic inflammatory disease PID MTHICD9_2006:614.9 ICD10CM:J98.2 ICD9CM:518.1 NCI:C34571 SNOMEDCT_US_2016_03_01:11211003 SNOMEDCT_US_2016_03_01:390898003 SNOMEDCT_US_2016_03_01:77690003 UMLS_CUI:C1370824 disease_ontology DOID:10030 interstitial emphysema ICD10CM:J98.3 ICD9CM:518.2 SNOMEDCT_US_2016_03_01:33325001 UMLS_CUI:C0155918 disease_ontology DOID:10031 compensatory emphysema MESH:D019568 UMLS_CUI:C0524799 disease_ontology DOID:10032 hyperlucent lung ICD10CM:H52.52 ICD9CM:367.51 SNOMEDCT_US_2016_03_01:232141000 SNOMEDCT_US_2016_03_01:255335004 SNOMEDCT_US_2016_03_01:68158006 UMLS_CUI:C0235238 Ciliary muscle paresis Cycloplegic paralysis of accommodation Paresis of accommodation disease_ontology DOID:10033 cycloplegia Ciliary muscle paresis SNOMEDCT_2005_07_31:68158006 Cycloplegic paralysis of accommodation SNOMEDCT_2005_07_31:232141000 Paresis of accommodation ICD9CM_2006:367.51 ICD10CM:H52.5 ICD9CM:367.5 SNOMEDCT_US_2016_03_01:155137002 SNOMEDCT_US_2016_03_01:193631008 SNOMEDCT_US_2016_03_01:54552008 UMLS_CUI:C0152198 disease_ontology DOID:10034 eye accommodation disease A tertiary neurosyphilis that results_in mild meningitis. ICD10CM:A52.2 ICD9CM:094.3 MESH:D009494 SNOMEDCT_US_2016_03_01:37754005 UMLS_CUI:C0153167 disease_ontology DOID:10035 asymptomatic neurosyphilis A tertiary neurosyphilis that results_in mild meningitis. url:http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh disease_ontology DOID:10038 old burn scar-related melanoma of skin true A congenital syphilis that occurs in children at or greater than two years of age who acquired the infection trans-placentally. The infection has_symptom gummatous ulcers, has_symptom periosteal lesions, has_symptom paresis, has_symptom tabes, has_symptom optic atrophy, has_symptom interstitial keratitis, has_symptom sensorineural deafness, and has_symptom dental deformities. DOID:10796 ICD10CM:A50.4 ICD10CM:A50.40 ICD10CM:A50.5 ICD10CM:A50.59 ICD9CM:090.4 ICD9CM:090.40 ICD9CM:090.5 MESH:D009494 SNOMEDCT_US_2016_03_01:186836008 SNOMEDCT_US_2016_03_01:186837004 SNOMEDCT_US_2016_03_01:186839001 SNOMEDCT_US_2016_03_01:187350002 SNOMEDCT_US_2016_03_01:4243004 SNOMEDCT_US_2016_03_01:82323002 UMLS_CUI:C0153132 UMLS_CUI:C0153136 juvenile neurosyphilis disease_ontology DOID:10039 late congenital syphilis A congenital syphilis that occurs in children at or greater than two years of age who acquired the infection trans-placentally. The infection has_symptom gummatous ulcers, has_symptom periosteal lesions, has_symptom paresis, has_symptom tabes, has_symptom optic atrophy, has_symptom interstitial keratitis, has_symptom sensorineural deafness, and has_symptom dental deformities. url:http://en.wikipedia.org/wiki/Late_congenital_syphilis url:http://www.merckmanuals.com/professional/sec19/ch279/ch279d.html NCI:C4358 SNOMEDCT_US_2016_03_01:231834005 UMLS_CUI:C0339116 disease_ontology DOID:10040 malignant eyelid melanoma MESH:D004416 OMIM:155601 UMLS_CUI:C0205747 FAMM syndrome familial atypical multiple mole-melanoma disease_ontology DOID:10041 OMIM mapping confirmed by DO. [SN]. dysplastic nevus syndrome FAMM syndrome NCI2004_11_17:C27264 regressing malignant melanoma of the skin disease_ontology DOID:10042 regressing skin melanoma true regressing malignant melanoma of the skin NCI2004_11_17:C7089 NCI:C4227 SNOMEDCT_US_2016_03_01:39274007 SNOMEDCT_US_2016_03_01:403922007 UMLS_CUI:C0334426 disease_ontology DOID:10044 balloon cell malignant melanoma malignant melanoma in congenital melanocytic naevus skin melanoma in Giant Pigmented nevus disease_ontology DOID:10045 malignant giant pigmented nevus melanoma true malignant melanoma in congenital melanocytic naevus SNOMEDCT_2005_07_31:75931002 skin melanoma in Giant Pigmented nevus NCI2004_11_17:C4235 A melanoma that is characterized as highly aggressive and manifests as a uniform blue-black, blue-red, or amelanotic nodule. NCI:C4225 SNOMEDCT_US_2016_03_01:2142002 SNOMEDCT_US_2016_03_01:254731001 UMLS_CUI:C0334424 nodular melanoma (morphologic abnormality) disease_ontology DOID:10047 nodular malignant melanoma A melanoma that is characterized as highly aggressive and manifests as a uniform blue-black, blue-red, or amelanotic nodule. url:http://en.wikipedia.org/wiki/Nodular_melanoma url:http://www.clevelandclinicmeded.com/medicalpubs/diseasemanagement/dermatology/cutaneous-malignant-melanoma/ nodular melanoma (morphologic abnormality) SNOMEDCT_2005_07_31:2142002 malignant melanoma in junctional nevus (morphologic abnormality) melanoma in Junctional nevus disease_ontology DOID:10048 malignant junctional nevus melanoma true malignant melanoma in junctional nevus (morphologic abnormality) SNOMEDCT_2005_07_31:915007 melanoma in Junctional nevus NCI2004_11_17:C4232 A skin malanoma that results_in nonpigmented lesions located_in sun-exposed areas of the body, most commonly on the head and neck. disease_ontology DOID:10049 desmoplastic melanoma true A skin malanoma that results_in nonpigmented lesions located_in sun-exposed areas of the body, most commonly on the head and neck. url:http://www.cancer.gov/dictionary/?CdrID=321367 NCI:C3504 SNOMEDCT_US_2016_03_01:418632009 UMLS_CUI:C0151622 disease_ontology DOID:1005 endometrial disease Blue nevus-Like melanoma disease_ontology DOID:10053 malignant skin blue nevus true Blue nevus-Like melanoma NCI2004_11_17:C4240 NCI:C4633 SNOMEDCT_US_2016_03_01:276751004 UMLS_CUI:C0349515 skin amelanotic malignant melanoma disease_ontology DOID:10054 skin amelanotic melanoma disease_ontology DOID:10059 Congenital or acquired abnormality of vagina complicating pregnancy, childbirth, or the puerperium true A tertiary neurosyphilis that is caused due to syphilis, which occurs suddenly and produces tinnitus and deafness when the cochlear branch is affected whereas vertigo, disturbances of equilibrium, spontaneous nystagmus and vomiting when the vestibular branch suffers. A combination of these symptoms are seen when both the branches are involved. disease_ontology DOID:10066 syphilitic acoustic neuritis true A tertiary neurosyphilis that is caused due to syphilis, which occurs suddenly and produces tinnitus and deafness when the cochlear branch is affected whereas vertigo, disturbances of equilibrium, spontaneous nystagmus and vomiting when the vestibular branch suffers. A combination of these symptoms are seen when both the branches are involved. url:http://archotol.ama-assn.org/cgi/content/summary/40/4/261 NCI:C4426 SNOMEDCT_US_2016_03_01:126696001 UMLS_CUI:C0345746 Subglottic tumor disease_ontology DOID:10069 subglottis neoplasm Subglottic tumor NCI2004_11_17:C4426 NCI:C6027 UMLS_CUI:C1334370 disease_ontology DOID:10070 larynx leiomyoma NCI:C7742 SNOMEDCT_US_2016_03_01:269637007 UMLS_CUI:C0240164 disease_ontology DOID:10071 larynx squamous papilloma ICD9CM:094.2 MESH:C536775 SNOMEDCT_US_2016_03_01:14968007 SNOMEDCT_US_2016_03_01:186887006 SNOMEDCT_US_2016_03_01:301086002 UMLS_CUI:C0153166 disease_ontology DOID:10073 syphilitic meningitis A parasitic helminthiasis infectious disease that involves infection of the bowel by Hymenolepis nana or Hymenolepis diminuta. The symptoms include diarrhea, gastrointestinal discomfort, itchy anus, poor appetite and weakness. ICD10CM:B71.0 ICD9CM:123.6 MESH:D006925 NCI:C84768 SNOMEDCT_US_2016_03_01:187153007 SNOMEDCT_US_2016_03_01:44917000 UMLS_CUI:C0020413 Hymenolepis infectious disease dwarf tapeworm infection disease_ontology DOID:10074 hymenolepiasis A parasitic helminthiasis infectious disease that involves infection of the bowel by Hymenolepis nana or Hymenolepis diminuta. The symptoms include diarrhea, gastrointestinal discomfort, itchy anus, poor appetite and weakness. url:http://en.wikipedia.org/wiki/Hymenolepiasis url:http://www.nlm.nih.gov/medlineplus/ency/article/001378.htm Hymenolepis infectious disease MTHICD9_2006:123.6 A parasitic helminthiasis infectious disease that involves parasitic infection caused by Diphyllobothrium latum through the consumption of raw or undercooked fish. The symptoms include abdominal discomfort, diarrhea, vomiting, weight loss and vitamin B12 deficiency with pernicious anemia. ICD10CM:B70.0 ICD9CM:123.4 MESH:D004169 SNOMEDCT_US_2016_03_01:187151009 SNOMEDCT_US_2016_03_01:359799003 SNOMEDCT_US_2016_03_01:49047003 UMLS_CUI:C0012561 Diphyllobothrium infection fish tapeworm disease_ontology DOID:10075 diphyllobothriasis A parasitic helminthiasis infectious disease that involves parasitic infection caused by Diphyllobothrium latum through the consumption of raw or undercooked fish. The symptoms include abdominal discomfort, diarrhea, vomiting, weight loss and vitamin B12 deficiency with pernicious anemia. url:http://en.wikipedia.org/wiki/Diphyllobothrium url:http://www.dpd.cdc.gov/dpdx/HTML/Diphyllobothriasis.htm Diphyllobothrium infection MTHICD9_2006:123.4 A taeniasis that results from ingestion of eggs or larvae of the Taenia solium tapeworm in undercooked pork or fecally contaminated food or water, which subsequently infect the central nervous system, heart, muscles, subcutaneous tissues, and eyes. Neurocysticercosis causes seizures, mental disturbances, focal neurologic deficits and intracerebral lesions. DOID:10078 DOID:14424 ICD10CM:B69 ICD10CM:B69.9 ICD9CM:123.1 MESH:D003551 NCI:C34520 SNOMEDCT_US_2016_03_01:105684008 SNOMEDCT_US_2016_03_01:187527007 SNOMEDCT_US_2016_03_01:59051007 UMLS_CUI:C0010678 Pork tapeworm infection Tapeworm infection: [intestinal taenia solium] or [pork] intestinal taenia solium infection neurocysticercosis tenia solium infectious disease disease_ontology DOID:10079 cysticercosis A taeniasis that results from ingestion of eggs or larvae of the Taenia solium tapeworm in undercooked pork or fecally contaminated food or water, which subsequently infect the central nervous system, heart, muscles, subcutaneous tissues, and eyes. Neurocysticercosis causes seizures, mental disturbances, focal neurologic deficits and intracerebral lesions. url:http://en.wikipedia.org/wiki/Cysticercosis url:http://www.dpd.cdc.gov/dpdx/HTML/Cysticercosis.htm Pork tapeworm infection MTHICD9_2006:123.0 Tapeworm infection: [intestinal taenia solium] or [pork] SNOMEDCT_2005_07_31:187147007 intestinal taenia solium infection SNOMEDCT_2005_07_31:266160004 A parasitic helminthiasis infectious disease that involves parasitic infection by the genus Spirometra. A painful nodule develops after the plerocercoid larvae migrate to the brain causing cerebral sparganosis. Subcutaneous tissue, breast, orbit, urinary tract, pleural cavity, lungs, abdominal viscera and inner ear can be infected. ICD10CM:B70.1 ICD9CM:123.5 MESH:D013031 NCI:C35030 SNOMEDCT_US_2016_03_01:187152002 SNOMEDCT_US_2016_03_01:31659000 UMLS_CUI:C0037753 Infection by Sparganum Sparganosis [larval diphyllobothriasis] disease_ontology DOID:10080 sparganosis A parasitic helminthiasis infectious disease that involves parasitic infection by the genus Spirometra. A painful nodule develops after the plerocercoid larvae migrate to the brain causing cerebral sparganosis. Subcutaneous tissue, breast, orbit, urinary tract, pleural cavity, lungs, abdominal viscera and inner ear can be infected. url:http://en.wikipedia.org/wiki/Sparganosis url:http://www.dpd.cdc.gov/dpdx/HTML/Sparganosis.htm Infection by Sparganum MTHICD9_2006:123.5 Sparganosis [larval diphyllobothriasis] ICD9CM_2006:123.5 ICD9CM:094.81 SNOMEDCT_US_2016_03_01:192699001 SNOMEDCT_US_2016_03_01:192700000 SNOMEDCT_US_2016_03_01:26135000 UMLS_CUI:C0153168 disease_ontology DOID:10081 syphilitic encephalitis NCI:C3876 SNOMEDCT_US_2016_03_01:276812001 UMLS_CUI:C0238440 leiomyoma of the stomach disease_ontology DOID:10087 gastric leiomyoma leiomyoma of the stomach NCI2004_11_17:C3876 A central nervous system disease that is located_in the skull and is characterized by a collection of pus (infected material) inside the skull. ICD9CM:324.0 NCI:C34734 SNOMEDCT_US_2016_03_01:192738001 SNOMEDCT_US_2016_03_01:192746000 SNOMEDCT_US_2016_03_01:27614006 UMLS_CUI:C0021874 disease_ontology DOID:10095 intracranial abscess A central nervous system disease that is located_in the skull and is characterized by a collection of pus (infected material) inside the skull. url:https://www.nlm.nih.gov/medlineplus/ency/article/001416.htm disease_ontology DOID:10111 Congenital or acquired abnormality of vagina, with delivery true A trypanosomiasis that results from infection by Trypanosoma brucei and gambiense, which is transmitted by the bite of an infected tsetse fly (Glossina spp). The symptoms include fever, headache, joint pain, itching, confusion, sensory disturbances, poor coordination and sleep disturbances. ICD10CM:B56 ICD10CM:B56.9 ICD9CM:086.5 KEGG:05143 MESH:D014353 NCI:C84541 SNOMEDCT_US_2016_03_01:186818008 SNOMEDCT_US_2016_03_01:187512007 SNOMEDCT_US_2016_03_01:27031003 SNOMEDCT_US_2016_03_01:78940002 UMLS_CUI:C0041228 African sleeping sickness African trypanosomiasis disease_ontology DOID:10112 sleeping sickness A trypanosomiasis that results from infection by Trypanosoma brucei and gambiense, which is transmitted by the bite of an infected tsetse fly (Glossina spp). The symptoms include fever, headache, joint pain, itching, confusion, sensory disturbances, poor coordination and sleep disturbances. url:http://en.wikipedia.org/wiki/African_trypanosomiasis url:http://www.nlm.nih.gov/medlineplus/ency/article/001362.htm url:http://www.who.int/mediacentre/factsheets/fs259/en/ African sleeping sickness CSP2005:2214-6161 African trypanosomiasis MTH:NOCODE A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the genus Trypanosoma in animals and humans. ICD10CM:B57.2 ICD9CM:086 ICD9CM:086.9 MESH:D014352 SNOMEDCT_US_2016_03_01:154375001 SNOMEDCT_US_2016_03_01:186819000 SNOMEDCT_US_2016_03_01:266205000 SNOMEDCT_US_2016_03_01:78940002 UMLS_CUI:C0041227 disease_ontology DOID:10113 trypanosomiasis A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the genus Trypanosoma in animals and humans. url:http://en.wikipedia.org/wiki/Trypanosomiasis A sleeping sickness that involves infection caused by Trypanosoma brucei rhodesiense, which is carried by the tsetse fly. The symptoms include fever, severe headache, irritability, extreme fatigue, swollen lymph nodes, aching muscles and joints, skin rash, progressive confusion, personality changes, and other neurologic problems. East African trypanosomiasis Rhodesian sleeping sickness Rhodesian trypanosomiasis trypanosoma rhodesiense infectious disease disease_ontology DOID:10114 Trypanosoma brucei rhodesiense infectious disease true A sleeping sickness that involves infection caused by Trypanosoma brucei rhodesiense, which is carried by the tsetse fly. The symptoms include fever, severe headache, irritability, extreme fatigue, swollen lymph nodes, aching muscles and joints, skin rash, progressive confusion, personality changes, and other neurologic problems. url:http://www.cdc.gov/ncidod/dpd/parasites/trypanosomiasis/factsht_ea_trypanosomiasis.htm Rhodesian sleeping sickness MTHICD9_2006:086.4 Rhodesian trypanosomiasis ICD9CM_2006:086.4 A sleeping sickness that involves infection caused by Trypanosoma brucei gambiense, which is carried by the tsetse fly. The symptoms include fever, rash, swelling of the face and hands, headaches, fatigue, aching muscles and joints, itching skin, swollen lymph nodes, progressive confusion, personality changes, daytime sleepiness with nighttime sleep disturbances, and other neurologic problems. Gambian Trypanosomiasis Gambian sleeping sickness West African trypanosomiasis disease_ontology DOID:10116 Trypanosoma brucei gambiense infectious disease true A sleeping sickness that involves infection caused by Trypanosoma brucei gambiense, which is carried by the tsetse fly. The symptoms include fever, rash, swelling of the face and hands, headaches, fatigue, aching muscles and joints, itching skin, swollen lymph nodes, progressive confusion, personality changes, daytime sleepiness with nighttime sleep disturbances, and other neurologic problems. url:http://www.cdc.gov/ncidod/dpd/parasites/trypanosomiasis/factsht_wa_trypanosomiasis.htm Gambian Trypanosomiasis NCI2004_11_17:C35084 Gambian sleeping sickness MTHICD9_2006:086.3 ICD9CM:374.50 SNOMEDCT_US_2016_03_01:1112003 SNOMEDCT_US_2016_03_01:193957009 UMLS_CUI:C0155209 disease_ontology DOID:10120 eyelid degenerative disease disease_ontology DOID:10121 degenerative disorder of eyelid and periocular area true ICD10CM:H02.71 ICD9CM:374.52 MESH:C562400 OMIM:145100 SNOMEDCT_US_2016_03_01:41115008 UMLS_CUI:C0155211 dyspigmentation of eyelid disease_ontology DOID:10122 OMIM mapping confirmed by DO. [SN]. hyperpigmentation of eyelid ICD9CM:709.09 UMLS_CUI:C0375489 disease_ontology DOID:10123 pigmentation disease DOID:2284 ICD10CM:H18.9 ICD9CM:371.9 MESH:D003316 NCI:C26731 SNOMEDCT_US_2016_03_01:15250008 SNOMEDCT_US_2016_03_01:155160005 SNOMEDCT_US_2016_03_01:193794007 SNOMEDCT_US_2016_03_01:193856004 SNOMEDCT_US_2016_03_01:267733008 UMLS_CUI:C0010034 disease_ontology DOID:10124 corneal disease ICD9CM:371.62 SNOMEDCT_US_2016_03_01:111523009 UMLS_CUI:C0339286 Keratoconus, acute hydrops disease_ontology DOID:10125 acute hydrops keratoconus Keratoconus, acute hydrops ICD9CM_2006:371.62 A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape. ICD10CM:H18.6 ICD10CM:H18.60 ICD9CM:371.6 ICD9CM:371.60 MESH:D007640 NCI:C26806 OMIM:148300 OMIM:608586 OMIM:608932 OMIM:609271 OMIM:614622 OMIM:614623 OMIM:614628 OMIM:614629 ORDO:156071 SNOMEDCT_US_2016_03_01:155160005 SNOMEDCT_US_2016_03_01:193843006 SNOMEDCT_US_2016_03_01:193846003 SNOMEDCT_US_2016_03_01:267733008 SNOMEDCT_US_2016_03_01:65636009 UMLS_CUI:C0022578 conical cornea disease_ontology DOID:10126 Xref MGI. keratoconus A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape. url:http://en.wikipedia.org/wiki/Keratoconus url:http://ghr.nlm.nih.gov/glossary=keratoconus ICD9CM:434 ICD9CM:434.9 SNOMEDCT_US_2016_03_01:155400001 SNOMEDCT_US_2016_03_01:155403004 SNOMEDCT_US_2016_03_01:195188006 SNOMEDCT_US_2016_03_01:20059004 SNOMEDCT_US_2016_03_01:266255008 SNOMEDCT_US_2016_03_01:286956007 UMLS_CUI:C0028790 disease_ontology DOID:10127 cerebral artery occlusion A vein disease that is characterized by impaired flow of blood through the veins. ICD9CM:459.81 MESH:D014689 SNOMEDCT_US_2016_03_01:20696009 UMLS_CUI:C0042485 peripheral venous insufficiency disease_ontology DOID:10128 venous insufficiency A vein disease that is characterized by impaired flow of blood through the veins. url:http://my.clevelandclinic.org/disorders/venous_insufficiency/hic_venous_insufficiency.aspx url:http://www.nlm.nih.gov/medlineplus/ency/article/000203.htm peripheral venous insufficiency SNOMEDCT_2005_07_31:20696009 ICD10CM:F52.5 ICD9CM:306.51 NCI:C35113 SNOMEDCT_US_2016_03_01:154924008 SNOMEDCT_US_2016_03_01:192469003 SNOMEDCT_US_2016_03_01:268773000 SNOMEDCT_US_2016_03_01:71787009 UMLS_CUI:C0042266 Functional vaginismus Non-organic vaginismus Psychogenic Vaginismus disease_ontology DOID:10131 psychologic vaginismus Functional vaginismus MTHICD9_2006:306.51 Non-organic vaginismus SNOMEDCT_2005_07_31:192469003 Psychogenic Vaginismus NCI2004_11_17:C35113 ICD9CM:302.79 UMLS_CUI:C0033951 disease_ontology DOID:10132 psychosexual disorder ICD10CM:E50.7 ICD10CM:H04.12 ICD9CM:375.15 MESH:D014985 NCI:C34503 SNOMEDCT_US_2016_03_01:155167008 SNOMEDCT_US_2016_03_01:193887002 SNOMEDCT_US_2016_03_01:193980001 SNOMEDCT_US_2016_03_01:363677007 SNOMEDCT_US_2016_03_01:46152009 SNOMEDCT_US_2016_03_01:69316005 UMLS_CUI:C0043349 Conjunctival xerosis disease_ontology DOID:10138 xerophthalmia Conjunctival xerosis ICD9CM_2006:372.53 ICD10CM:H11.10 ICD9CM:372.50 SNOMEDCT_US_2016_03_01:193886006 SNOMEDCT_US_2016_03_01:40787005 UMLS_CUI:C0155160 disease_ontology DOID:10139 conjunctival degeneration ICD10CM:H04.12 MESH:D015352 NCI:C34553 SNOMEDCT_US_2016_03_01:155182003 SNOMEDCT_US_2016_03_01:193980001 SNOMEDCT_US_2016_03_01:46152009 UMLS_CUI:C0013238 Tear film insufficiency disease_ontology DOID:10140 dry eye syndrome Tear film insufficiency SNOMEDCT_2005_07_31:193980001 ICD10CM:H53.14 MESH:D001248 SNOMEDCT_US_2016_03_01:193645002 SNOMEDCT_US_2016_03_01:46640001 SNOMEDCT_US_2016_03_01:70323002 UMLS_CUI:C0004095 Accommodative strain disease_ontology DOID:10141 asthenopia Accommodative strain SNOMEDCT_2005_07_31:193645002 venereal disease of peritoneum due to Chlamydia trachomatis disease_ontology DOID:10142 Chlamydia trachomatis peritonitis true metastatic tumor to the Thymus disease_ontology DOID:10144 secondary malignant neoplasm to the thymus true metastatic tumor to the Thymus NCI2004_11_17:C4903 metastatic tumor to the mediastinum secondary malignant neoplasm of mediastinum disease_ontology DOID:10145 metastases to mediastinum true metastatic tumor to the mediastinum NCI2004_11_17:C3578 secondary malignant neoplasm of mediastinum ICD9CM_2006:197.1 NCI:C6451 UMLS_CUI:C1336745 disease_ontology DOID:10146 thymus lymphoma A bone cancer that is manifested in the long bones of the lower limb. ICD10CM:C40.2 ICD9CM:170.7 SNOMEDCT_US_2016_03_01:187959005 SNOMEDCT_US_2016_03_01:187963003 UMLS_CUI:C0153517 malignant neoplasm of long bones of leg disease_ontology DOID:10149 long bones of lower limb cancer A bone cancer that is manifested in the long bones of the lower limb. url:http://www.wrongdiagnosis.com/medical/malignant_neoplasm_of_long_bones_of_lower_limb.htm malignant neoplasm of long bones of leg SNOMEDCT_2005_07_31:187959005 A malignant neoplasm that is manifested in the lower limb. malignant neoplasm of lower limb disease_ontology cancer of lower limb DOID:10150 lower limb cancer true A malignant neoplasm that is manifested in the lower limb. url:http://www.wrongdiagnosis.com/medical/malignant_neoplasm_of_long_bones_of_lower_limb.htm malignant neoplasm of lower limb ICD9CM_2006:195.5 ICD10CM:C40.3 ICD9CM:170.8 SNOMEDCT_US_2016_03_01:187964009 SNOMEDCT_US_2016_03_01:187979002 SNOMEDCT_US_2016_03_01:269468002 SNOMEDCT_US_2016_03_01:712525007 SNOMEDCT_US_2016_03_01:94003005 UMLS_CUI:C0153518 malignant neoplasm of short bone of lower limb malignant neoplasm of short bones of leg disease_ontology DOID:10151 malignant neoplasm of short bones of lower limb malignant neoplasm of short bone of lower limb SNOMEDCT_2005_07_31:94003005 malignant neoplasm of short bones of leg SNOMEDCT_2005_07_31:187964009 ICD9CM:152.3 SNOMEDCT_US_2016_03_01:187752007 SNOMEDCT_US_2016_03_01:93890009 UMLS_CUI:C0153429 Meckel diverticulum cancer malignant neoplasm of Meckel's diverticulum disease_ontology DOID:10152 Meckel's diverticulum cancer malignant neoplasm of Meckel's diverticulum SNOMEDCT_2005_07_31:93890009 A small intestine cancer that is located_in the ileum. ICD10CM:C17.2 ICD9CM:152.2 SNOMEDCT_US_2016_03_01:363405009 SNOMEDCT_US_2016_03_01:93832004 UMLS_CUI:C0153428 ileal neoplasm malignant neoplasm of ileum disease_ontology DOID:10153 ileum cancer A small intestine cancer that is located_in the ileum. url:http://en.wikipedia.org/wiki/Ileum malignant neoplasm of ileum ICD9CM_2006:152.2 An intestinal cancer that is located_in the small intestine. ICD10CM:C17 ICD10CM:C17.9 ICD9CM:152.9 NCI:C7523 SNOMEDCT_US_2016_03_01:154555009 SNOMEDCT_US_2016_03_01:187755009 SNOMEDCT_US_2016_03_01:269615000 SNOMEDCT_US_2016_03_01:363509000 SNOMEDCT_US_2016_03_01:94048009 UMLS_CUI:C0153425 disease_ontology DOID:10154 small intestine cancer An intestinal cancer that is located_in the small intestine. url:http://en.wikipedia.org/wiki/Small_intestine A gastrointestinal system cancer that is located_in the intestine. ICD10CM:C26.0 ICD9CM:159.0 MESH:D007414 NCI:C4572 SNOMEDCT_US_2016_03_01:187819006 SNOMEDCT_US_2016_03_01:190089002 SNOMEDCT_US_2016_03_01:363508008 SNOMEDCT_US_2016_03_01:93838000 UMLS_CUI:C0346627 malignant intestinal tumors malignant neoplasm of intestine disease_ontology DOID:10155 intestinal cancer A gastrointestinal system cancer that is located_in the intestine. url:http://en.wikipedia.org/wiki/Intestine malignant intestinal tumors NCI2004_11_17:C4572 malignant neoplasm of intestine SNOMEDCT_2005_07_31:93838000 MESH:D007078 NCI:C3130 SNOMEDCT_US_2016_03_01:126835002 SNOMEDCT_US_2016_03_01:254576003 UMLS_CUI:C0020876 Ileal tumor disease_ontology DOID:10156 ileal neoplasm Ileal tumor NCI2004_11_17:C3130 An ischemic bone disease that results_in necrosis located_in bone. DOID:10160 DOID:10161 DOID:10162 DOID:10163 DOID:10164 DOID:4128 DOID:8380 DOID:86 ICD10CM:M87 ICD10CM:M87.9 ICD9CM:732.3 ICD9CM:733.41 ICD9CM:733.42 ICD9CM:733.43 ICD9CM:733.44 ICD9CM:733.49 MESH:D010020 NCI:C34404 NCI:C34841 NCI:C34880 NCI:C35226 NCI:C35517 SNOMEDCT_US_2016_03_01:156837008 SNOMEDCT_US_2016_03_01:17926002 SNOMEDCT_US_2016_03_01:203487006 SNOMEDCT_US_2016_03_01:240196003 SNOMEDCT_US_2016_03_01:29281007 SNOMEDCT_US_2016_03_01:34686004 SNOMEDCT_US_2016_03_01:397758007 SNOMEDCT_US_2016_03_01:398199007 SNOMEDCT_US_2016_03_01:43453000 SNOMEDCT_US_2016_03_01:62100001 SNOMEDCT_US_2016_03_01:83453001 UMLS_CUI:C0003977 UMLS_CUI:C0027543 UMLS_CUI:C0029445 UMLS_CUI:C0158442 UMLS_CUI:C0158449 UMLS_CUI:C0158450 UMLS_CUI:C0158451 UMLS_CUI:C0158452 UMLS_CUI:C0745048 Avascular necrosis of bone bone necrosis disease_ontology DOID:10159 osteonecrosis An ischemic bone disease that results_in necrosis located_in bone. url:http://en.wikipedia.org/wiki/Avascular_necrosis url:http://www.nlm.nih.gov/medlineplus/ency/article/007260.htm Avascular necrosis of bone NCI2004_11_17:C34841 bone necrosis CSP2005:2715-1650 disease_ontology DOID:1016 primary tuberculosis true DOID:6356 Tuberculous abscess of spinal cord tuberculoma of spinal cord disease_ontology DOID:10173 tuberculous myelitis true Tuberculous abscess of spinal cord ICD9CM_2006:013.5 ICD10CM:H04.81 ICD9CM:375.81 SNOMEDCT_US_2016_03_01:194001006 SNOMEDCT_US_2016_03_01:417563003 SNOMEDCT_US_2016_03_01:82836006 UMLS_CUI:C0155253 Granuloma of lacrimal passages disease_ontology DOID:10174 lacrimal passage granuloma Granuloma of lacrimal passages ICD9CM_2006:375.81 ICD10CM:H35.81 ICD10CM:H46.0 ICD10CM:H47.1 ICD10CM:H47.10 ICD10CM:H47.11 ICD9CM:362.83 ICD9CM:377.0 ICD9CM:377.00 ICD9CM:377.01 ICD9CM:377.31 MESH:D010211 NCI:C3307 SNOMEDCT_US_2016_03_01:111526001 SNOMEDCT_US_2016_03_01:155187009 SNOMEDCT_US_2016_03_01:193426002 SNOMEDCT_US_2016_03_01:194038006 SNOMEDCT_US_2016_03_01:194041002 SNOMEDCT_US_2016_03_01:248487006 SNOMEDCT_US_2016_03_01:3170006 SNOMEDCT_US_2016_03_01:423341008 SNOMEDCT_US_2016_03_01:423488006 SNOMEDCT_US_2016_03_01:6141006 SNOMEDCT_US_2016_03_01:73221001 UMLS_CUI:C0030353 UMLS_CUI:C0155288 UMLS_CUI:C0242420 UMLS_CUI:C0919308 papillitis disease_ontology DOID:10175 optic papillitis papillitis CSP2005:2042-6609 ICD10CM:H30.9 MESH:D012173 SNOMEDCT_US_2016_03_01:410471004 UMLS_CUI:C0154874 Focal retinitis and retinochoroiditis, juxtapapillary Juxtapapillary focal retinitis AND retinochoroiditis Papilloretinitis disease_ontology DOID:10176 neuroretinitis Focal retinitis and retinochoroiditis, juxtapapillary ICD9CM_2006:363.05 Juxtapapillary focal retinitis AND retinochoroiditis SNOMEDCT_2005_07_31:46497009 Papilloretinitis SNOMEDCT_2005_07_31:410471004 SNOMEDCT_US_2016_03_01:65443008 UMLS_CUI:C0155593 disease_ontology DOID:10177 malignant hypertensive renal disease ICD9CM:250.7 SNOMEDCT_US_2016_03_01:127014009 SNOMEDCT_US_2016_03_01:190354007 SNOMEDCT_US_2016_03_01:190361006 SNOMEDCT_US_2016_03_01:267383000 SNOMEDCT_US_2016_03_01:267473003 SNOMEDCT_US_2016_03_01:982001 UMLS_CUI:C0011871 disease_ontology DOID:10182 diabetic peripheral angiopathy NCI:C5063 UMLS_CUI:C0852937 disease_ontology DOID:10183 endobronchial lipoma A lipoma that is an asymptomatic, slow-growing subcutaneous tumor that has a predilection for the posterior back, neck, and shoulders of older men. NCI:C4254 SNOMEDCT_US_2016_03_01:27313007 SNOMEDCT_US_2016_03_01:404058008 UMLS_CUI:C0334474 spindle cell Lipoma spindle cell lipoma (disorder) spindle cell lipoma (morphologic abnormality) disease_ontology DOID:10184 spindle cell lipoma A lipoma that is an asymptomatic, slow-growing subcutaneous tumor that has a predilection for the posterior back, neck, and shoulders of older men. url:http://en.wikipedia.org/wiki/Lipoma spindle cell Lipoma NCI2004_11_17:C4254 spindle cell lipoma (disorder) SNOMEDCT_2005_07_31:404058008 spindle cell lipoma (morphologic abnormality) SNOMEDCT_2005_07_31:27313007 NCI:C5701 UMLS_CUI:C1333455 Lipoma of esophagus disease_ontology DOID:10187 esophageal lipoma Lipoma of esophagus NCI2004_11_17:C5701 DOID:10198 DOID:3943 ICD9CM:214.0 NCI:C4616 NCI:C5566 SNOMEDCT_US_2016_03_01:188989000 SNOMEDCT_US_2016_03_01:255187008 SNOMEDCT_US_2016_03_01:93159009 UMLS_CUI:C0153968 UMLS_CUI:C0347394 UMLS_CUI:C1333174 Cutaneous Lipoma Lipoma of skin cutaneous lipomatous tumor lipoma of face disease_ontology DOID:10188 skin lipoma Cutaneous Lipoma NCI2004_11_17:C4616 Lipoma of skin SNOMEDCT_2005_07_31:255187008 A bone inflammation disease that has_material_basis_in infection located_in bone or located_in bone marrow. DOID:1018 DOID:1020 DOID:10281 DOID:10282 DOID:10692 DOID:10860 DOID:1164 DOID:11788 DOID:11959 DOID:12011 DOID:13673 DOID:13674 DOID:13675 DOID:13678 DOID:13684 DOID:13737 DOID:14003 DOID:14100 DOID:14166 DOID:2249 DOID:2250 DOID:5858 DOID:9456 ICD9CM:730.01 ICD9CM:730.1 ICD9CM:730.10 ICD9CM:730.11 SNOMEDCT_US_2016_03_01:156791003 SNOMEDCT_US_2016_03_01:156800002 SNOMEDCT_US_2016_03_01:203181001 SNOMEDCT_US_2016_03_01:203183003 SNOMEDCT_US_2016_03_01:203205002 SNOMEDCT_US_2016_03_01:40970001 UMLS_CUI:C0008707 UMLS_CUI:C0158372 UMLS_CUI:C0158381 disease_ontology DOID:1019 osteomyelitis A bone inflammation disease that has_material_basis_in infection located_in bone or located_in bone marrow. url:http://en.wikipedia.org/wiki/Osteomyelitis url:http://my.clevelandclinic.org/disorders/osteomyelitis/hic_osteomyelitis.aspx url:http://www.mayoclinic.com/health/osteomyelitis/DS00759 url:http://www.nlm.nih.gov/medlineplus/ency/article/000437.htm NCI:C5750 UMLS_CUI:C1333970 Lipoma of the Liver disease_ontology DOID:10190 liver lipoma Lipoma of the Liver NCI2004_11_17:C5750 disease_ontology DOID:10191 autosomal deletion syndrome true A lipoma that is characterized by floret giant cells with overlapping nuclei. MESH:D008067 NCI:C3703 SNOMEDCT_US_2016_03_01:189783001 SNOMEDCT_US_2016_03_01:21396005 SNOMEDCT_US_2016_03_01:404059000 UMLS_CUI:C0205823 Pleomorphic Lipoma Pleomorphic lipoma Pleomorphic lipoma (disorder) Pleomorphic lipoma (morphologic abnormality) disease_ontology DOID:10192 pleomorphic lipoma A lipoma that is characterized by floret giant cells with overlapping nuclei. url:http://en.wikipedia.org/wiki/Pleomorphic_lipoma Pleomorphic Lipoma NCI2004_11_17:C3703 Pleomorphic lipoma SNOMEDCT_2005_07_31:189783001 Pleomorphic lipoma (disorder) SNOMEDCT_2005_07_31:404059000 Pleomorphic lipoma (morphologic abnormality) SNOMEDCT_2005_07_31:21396005 NCI:C27530 UMLS_CUI:C1333059 disease_ontology DOID:10193 classic type lipoma NCI:C5101 UMLS_CUI:C1335744 Lipoma of kidney disease_ontology DOID:10194 kidney lipoma Lipoma of kidney NCI2004_11_17:C5101 NCI:C6644 SNOMEDCT_US_2016_03_01:2460001000004103 UMLS_CUI:C1335434 Lipoma of Pleura disease_ontology DOID:10195 pleural lipoma Lipoma of Pleura NCI2004_11_17:C6644 NCI:C4647 SNOMEDCT_US_2016_03_01:276891009 UMLS_CUI:C0349565 Lipoma of breast disease_ontology DOID:10199 breast lipoma Lipoma of breast SNOMEDCT_2005_07_31:276891009 NCI:C6719 SNOMEDCT_US_2016_03_01:448270009 UMLS_CUI:C1332932 Lipoma of the Chest Wall disease_ontology DOID:10200 chest wall lipoma Lipoma of the Chest Wall NCI2004_11_17:C6719 NCI:C5835 UMLS_CUI:C1333747 Lipoma of the gallbladder disease_ontology DOID:10201 gallbladder lipoma Lipoma of the gallbladder NCI2004_11_17:C5835 Lipoma of intrathoracic organs (disorder) disease_ontology DOID:10202 lipoma of intrathoracic organ true Lipoma of intrathoracic organs (disorder) SNOMEDCT_2005_07_31:93158001 NCI:C4618 SNOMEDCT_US_2016_03_01:188988008 UMLS_CUI:C0347423 Lipoma of external auditory meatus (disorder) Lipoma of the External ear disease_ontology DOID:10203 external auditory meatus lipoma Lipoma of external auditory meatus (disorder) SNOMEDCT_2005_07_31:188988008 Lipoma of the External ear NCI2004_11_17:C4618 Lipoma of intra-abdominal organs (disorder) disease_ontology DOID:10204 lipoma of intra-abdominal organ true Lipoma of intra-abdominal organs (disorder) SNOMEDCT_2005_07_31:93157006 An organ system benign neoplasm located_in the axilla, an area directly under the arm and shoulder joint composed_of adipose tissue. NCI:C35419 SNOMEDCT_US_2016_03_01:188993006 UMLS_CUI:C0347429 Lipoma of axilla disease_ontology DOID:10205 axillary lipoma An organ system benign neoplasm located_in the axilla, an area directly under the arm and shoulder joint composed_of adipose tissue. url:http://en.wikipedia.org/wiki/Axilla url:http://en.wikipedia.org/wiki/Lipoma Lipoma of axilla SNOMEDCT_2005_07_31:188993006 ICD9CM:214.4 NCI:C3606 SNOMEDCT_US_2016_03_01:93162007 UMLS_CUI:C0153972 Lipoma of spermatic cord Lipoma of spermatic cord (disorder) Spermatic Cord Lipoma disease_ontology DOID:10206 lipoma of spermatic cord Lipoma of spermatic cord ICD9CM_2006:214.4 Lipoma of spermatic cord (disorder) SNOMEDCT_2005_07_31:93162007 Spermatic Cord Lipoma NCI2004_11_17:C3606 NCI:C6384 UMLS_CUI:C1335348 disease_ontology DOID:10207 paratesticular lipoma A lipoma that is a deep-seated, firm, yellow tumors that characteristically occur on the legs of women. NCI:C6503 SNOMEDCT_US_2016_03_01:128746001 SNOMEDCT_US_2016_03_01:404065000 UMLS_CUI:C1266131 disease_ontology DOID:10208 chondroid lipoma A lipoma that is a deep-seated, firm, yellow tumors that characteristically occur on the legs of women. url:http://en.wikipedia.org/wiki/Lipoma NCI:C5854 UMLS_CUI:C1333509 Lipoma of the extrahepatic bile duct disease_ontology DOID:10209 extrahepatic bile duct lipoma Lipoma of the extrahepatic bile duct NCI2004_11_17:C5854 DOID:10212 calculus of gallbladder and bile duct without cholecystitis, with obstruction disease_ontology DOID:10210 calculus of gallbladder and bile duct without cholecystitis true EFO:0004799 ICD9CM:574.5 SNOMEDCT_US_2016_03_01:197397004 SNOMEDCT_US_2016_03_01:266475002 UMLS_CUI:C0006739 disease_ontology DOID:10211 cholelithiasis A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Treponema carateum, which is transmitted_by contact with skin and mucous membrane of an infected person. The infection has_symptom pruritic plaque, which slowly enlarges and becomes pigmented and hyperkeratotic. DOID:1021 DOID:10490 DOID:1813 DOID:3573 ICD10CM:A67 ICD10CM:A67.0 ICD10CM:A67.1 ICD10CM:A67.2 ICD10CM:A67.3 ICD10CM:A67.9 ICD9CM:103 ICD9CM:103.0 ICD9CM:103.1 ICD9CM:103.2 ICD9CM:103.3 ICD9CM:103.9 MESH:D010874 NCI:C85011 SNOMEDCT_US_2016_03_01:186975003 SNOMEDCT_US_2016_03_01:186976002 SNOMEDCT_US_2016_03_01:187373005 SNOMEDCT_US_2016_03_01:22064009 SNOMEDCT_US_2016_03_01:240685007 SNOMEDCT_US_2016_03_01:4669001 SNOMEDCT_US_2016_03_01:68131004 SNOMEDCT_US_2016_03_01:68202005 SNOMEDCT_US_2016_03_01:7251008 SNOMEDCT_US_2016_03_01:73594001 UMLS_CUI:C0031946 UMLS_CUI:C0153241 UMLS_CUI:C0153242 UMLS_CUI:C0153243 UMLS_CUI:C0153244 disease_ontology DOID:1022 pinta disease A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Treponema carateum, which is transmitted_by contact with skin and mucous membrane of an infected person. The infection has_symptom pruritic plaque, which slowly enlarges and becomes pigmented and hyperkeratotic. url:http://emedicine.medscape.com/article/225576-overview#a0104 DOID:10221 Failed mechanical induction of labor, antepartum disease_ontology DOID:10220 failed induction true disease_ontology DOID:10222 polymyositis true A myositis that results_in inflammation located_in muscle or located_in skin where a skin rash is often seen prior to the onset of muscle weakness. The disease may result from either a viral infection or an autoimmune reaction. ICD10CM:M33 ICD10CM:M33.9 ICD10CM:M33.90 ICD9CM:710.3 MESH:D003882 NCI:C26744 SNOMEDCT_US_2016_03_01:156456005 SNOMEDCT_US_2016_03_01:201445002 SNOMEDCT_US_2016_03_01:201448000 SNOMEDCT_US_2016_03_01:203795006 SNOMEDCT_US_2016_03_01:38826005 SNOMEDCT_US_2016_03_01:396230008 UMLS_CUI:C0011633 Dermatopolymyositis, unspecified Polymyositis with skin involvement dermatopolymyositis disease_ontology Amyopathic dermatomyositis DOID:10223 MESH:C538250 added from NeuroDevNet [WAK]. dermatomyositis A myositis that results_in inflammation located_in muscle or located_in skin where a skin rash is often seen prior to the onset of muscle weakness. The disease may result from either a viral infection or an autoimmune reaction. url:http://en.wikipedia.org/wiki/Dermatomyositis url:http://www.myositis.org/learn-about-myositis/types-of-myositis/dermatomyositis Dermatopolymyositis, unspecified SNOMEDCT_2005_07_31:201448000 Polymyositis with skin involvement MTHICD9_2006:710.3 Amyopathic dermatomyositis MESH:C538250 disease_ontology DOID:10226 single episode manic disorder true disease_ontology DOID:10229 partial epilepsy, with impairment of consciousness, with intractable epilepsy true A leprosy that results in small numerous red irregularly shaped plaques. ICD10CM:A30.3 ICD9CM:030.3 MESH:D015439 SNOMEDCT_US_2016_03_01:400008009 SNOMEDCT_US_2016_03_01:50521002 UMLS_CUI:C0023346 Borderline leprosy (disorder) Borderline leprosy [group B] Borderline or dimorphous leprosy Midborderline leprosy (disorder) disease_ontology DOID:1023 borderline leprosy A leprosy that results in small numerous red irregularly shaped plaques. url:http://emedicine.medscape.com/article/1104977-clinical#a0217 url:http://en.wikipedia.org/wiki/Borderline_leprosy Borderline leprosy (disorder) SNOMEDCT_2005_07_31:400008009 Borderline leprosy (disorder) SNOMEDCT_2005_07_31:50521002 Borderline leprosy [group B] ICD9CM_2006:030.3 Borderline or dimorphous leprosy MTHICD9_2006:030.3 Midborderline leprosy (disorder) SNOMEDCT_2005_07_31:400154003 ICD10CM:I70.0 ICD9CM:440.0 SNOMEDCT_US_2016_03_01:155415000 SNOMEDCT_US_2016_03_01:195252007 SNOMEDCT_US_2016_03_01:81817003 UMLS_CUI:C0155733 Aortic atherosclerosis Atherosclerosis of aorta (disorder) disease_ontology DOID:10230 aortic atherosclerosis Aortic atherosclerosis SNOMEDCT_2005_07_31:155415000 Aortic atherosclerosis SNOMEDCT_2005_07_31:195252007 Atherosclerosis of aorta (disorder) SNOMEDCT_2005_07_31:81817003 An American histoplasmosis that results_in inflammation located_in pericardium, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom pleural effusions, has_symptom chest pain and has_symptom cough. Histoplasma capsulatum with pericarditis (disorder) disease_ontology DOID:10233 Histoplasma capsulatum pericarditis true An American histoplasmosis that results_in inflammation located_in pericardium, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom pleural effusions, has_symptom chest pain and has_symptom cough. url:http://www.ncbi.nlm.nih.gov/pubmed/16924162 Histoplasma capsulatum with pericarditis (disorder) SNOMEDCT_2005_07_31:187040006 ICD9CM:115.93 SNOMEDCT_US_2016_03_01:187059008 UMLS_CUI:C0153279 Histoplasmosis with pericarditis (disorder) disease_ontology DOID:10234 histoplasmosis pericarditis Histoplasmosis with pericarditis (disorder) SNOMEDCT_2005_07_31:187059008 ICD10CM:H50.61 ICD9CM:378.61 MESH:D015835 SNOMEDCT_US_2016_03_01:35929003 UMLS_CUI:C0155339 Brown tendon sheath syndrome Brown's (tendon) sheath syndrome Brown's sheath syndrome disease_ontology DOID:10235 Brown's tendon sheath syndrome Brown's (tendon) sheath syndrome ICD9CM_2006:378.61 Brown's sheath syndrome MTHICD9_2006:378.61 ICD10CM:F65.2 ICD9CM:302.4 MESH:D005084 NCI:C94352 SNOMEDCT_US_2016_03_01:154907002 SNOMEDCT_US_2016_03_01:191781000 SNOMEDCT_US_2016_03_01:192514003 SNOMEDCT_US_2016_03_01:268763002 SNOMEDCT_US_2016_03_01:58349009 UMLS_CUI:C0015269 disease_ontology DOID:10236 exhibitionism A malignant neoplasm that is manifested in the pelvic region. neoplasm of pelvis (disorder) pelvis neoplasm disease_ontology DOID:10237 pelvic cancer true A malignant neoplasm that is manifested in the pelvic region. url:http://www.wrongdiagnosis.com/p/pelvic_cancer/intro.htm neoplasm of pelvis (disorder) SNOMEDCT_2005_07_31:126644004 pelvis neoplasm CSP2005:2005-4862 malignant neoplasm of rectum, rectosigmoid junction and anus (disorder) malignant neoplasm of rectum, rectosigmoid junction and anus NOS (disorder) malignant neoplasm of rectum, rectosigmoid junction, and anus disease_ontology DOID:10238 malignant neoplasm of rectum, rectosigmoid junction and anus true malignant neoplasm of rectum, rectosigmoid junction and anus (disorder) SNOMEDCT_2005_07_31:187760008 malignant neoplasm of rectum, rectosigmoid junction and anus NOS (disorder) SNOMEDCT_2005_07_31:187766002 malignant neoplasm of rectum, rectosigmoid junction, and anus ICD9CM_2006:154 Ca pelvic bones/sacrum/coccyx Ca pelvic bones/sacrum/coccyx (disorder) malignant neoplasm of pelvic bones, sacrum and coccyx (disorder) malignant neoplasm of pelvic bones, sacrum, and coccyx malignant neoplasm of pelvis, sacrum or coccyx NOS (disorder) disease_ontology DOID:10239 malignant neoplasm of pelvic bones, sacrum and coccyx true Ca pelvic bones/sacrum/coccyx SNOMEDCT_2005_07_31:154498005 Ca pelvic bones/sacrum/coccyx (disorder) SNOMEDCT_2005_07_31:269573006 malignant neoplasm of pelvic bones, sacrum and coccyx (disorder) SNOMEDCT_2005_07_31:187952001 malignant neoplasm of pelvic bones, sacrum, and coccyx ICD9CM_2006:170.6 malignant neoplasm of pelvis, sacrum or coccyx NOS (disorder) SNOMEDCT_2005_07_31:187958002 A primary bacterial infectious disease that results_in infection located_in superficial peripheral nerves, located_in skin, located_in mucous membranes of the upper respiratory tract, located_in anterior chamber of the eyes, or located_in testes, has_material_basis_in Mycobacterium leprae, which is transmitted_by aerosol spread from infected nasal secretions to exposed nasal and oral mucosa. The infection has_symptom skin lesions, has_symptom sensory loss, has_symptom motor loss and has_symptom eye damage. EFO:0001054 ICD10CM:A30 ICD10CM:A30.9 ICD9CM:030 ICD9CM:030.9 MESH:D007918 NCI:C84824 OMIM:246300 OMIM:607572 OMIM:609888 OMIM:610988 OMIM:613223 OMIM:613407 ORDO:548 SNOMEDCT_US_2016_03_01:154298007 SNOMEDCT_US_2016_03_01:186339006 SNOMEDCT_US_2016_03_01:187316006 SNOMEDCT_US_2016_03_01:266184007 SNOMEDCT_US_2016_03_01:81004002 UMLS_CUI:C0023343 disease_ontology DOID:1024 Xref MGI. leprosy A primary bacterial infectious disease that results_in infection located_in superficial peripheral nerves, located_in skin, located_in mucous membranes of the upper respiratory tract, located_in anterior chamber of the eyes, or located_in testes, has_material_basis_in Mycobacterium leprae, which is transmitted_by aerosol spread from infected nasal secretions to exposed nasal and oral mucosa. The infection has_symptom skin lesions, has_symptom sensory loss, has_symptom motor loss and has_symptom eye damage. url:http://emedicine.medscape.com/article/1104977-clinical#a0217 url:http://en.wikipedia.org/wiki/Leprosy malignant neoplasm of pelvis NOS (disorder) malignant neoplasm of pelvis, NOS malignant tumor of pelvis (disorder) disease_ontology DOID:10240 malignant neoplasm of pelvis true malignant neoplasm of pelvis NOS (disorder) SNOMEDCT_2005_07_31:188370005 malignant neoplasm of pelvis, NOS SNOMEDCT_2005_07_31:93953009 malignant tumor of pelvis (disorder) SNOMEDCT_2005_07_31:363484005 DOID:12242 DOID:12243 ICD10CM:D56 ICD10CM:D56.9 ICD9CM:282.4 ICD9CM:282.40 MESH:D013789 NCI:C35069 SNOMEDCT_US_2016_03_01:154796005 SNOMEDCT_US_2016_03_01:191182000 SNOMEDCT_US_2016_03_01:191192008 SNOMEDCT_US_2016_03_01:191193003 SNOMEDCT_US_2016_03_01:267521001 SNOMEDCT_US_2016_03_01:267557006 SNOMEDCT_US_2016_03_01:40108008 SNOMEDCT_US_2016_03_01:84188003 UMLS_CUI:C0039730 Sickle-cell thalassemia with crisis Sickle-cell thalassemia without crisis thalassemia Hb-S disease with crisis thalassemia Hb-S disease without crisis disease_ontology DOID:10241 OMIM mapping confirmed by DO. [LS]. thalassemia Sickle-cell thalassemia with crisis ICD9CM_2006:282.42 Sickle-cell thalassemia without crisis ICD9CM_2006:282.41 A primary bacterial infectious disease that results_in infection located_in leukocyte, has_material_basis_in Ehrlichia chaffeensis or Anaplasma phagocytophilum, which are transmitted_by lone start stick and transmitted_by black-legged tick respectively. The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue and has_symptom rash. DOID:0050023 ICD10CM:A77.4 ICD10CM:A77.40 ICD9CM:082.4 ICD9CM:082.40 MESH:D016873 SNOMEDCT_US_2016_03_01:77361002 UMLS_CUI:C0085399 human ehrlichiosis disease_ontology DOID:10242 ehrlichiosis A primary bacterial infectious disease that results_in infection located_in leukocyte, has_material_basis_in Ehrlichia chaffeensis or Anaplasma phagocytophilum, which are transmitted_by lone start stick and transmitted_by black-legged tick respectively. The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue and has_symptom rash. url:http://emedicine.medscape.com/article/235839-overview url:http://en.wikipedia.org/wiki/Ehrlichiosis disease_ontology DOID:10245 delayed separation of umbilical cord true A pleural disease that is characterized by inflammation of the pleura, the lining of the pleural cavity surrounding the lungs. ICD9CM:511.8 UMLS_CUI:C0029799 disease_ontology DOID:10247 pleurisy A pleural disease that is characterized by inflammation of the pleura, the lining of the pleural cavity surrounding the lungs. url:http://en.wikipedia.org/wiki/Pleurisy url:http://www.merck.com/mmhe/sec04/ch052/ch052b.html#sb052_2 A leprosy that results in one erythematous large plaque with well-defined borders that are elevated and that slope down into an atrophic center. ICD10CM:A30.1 ICD9CM:030.1 MESH:D015441 SNOMEDCT_US_2016_03_01:70143003 UMLS_CUI:C0023351 Smooth leprosy Tuberculoid leprosy [type T] type T leprosy disease_ontology DOID:1025 tuberculoid leprosy A leprosy that results in one erythematous large plaque with well-defined borders that are elevated and that slope down into an atrophic center. url:http://emedicine.medscape.com/article/1104977-clinical#a0217 url:http://en.wikipedia.org/wiki/Tuberculoid_leprosy Smooth leprosy SNOMEDCT_2005_07_31:70143003 Tuberculoid leprosy [type T] ICD9CM_2006:030.1 type T leprosy MTHICD9_2006:030.1 A viral infectious disease that results_in infection in sheep and rarely humans, has_material_basis_in Louping ill virus, which is transmitted_by sheep tick, Ixodes ricinus. The infection has_symptom lethargy, has_symptom muscle pains, has_symptom fever, and has_symptom focal neurological signs. ICD10CM:A84.8 ICD9CM:063.1 MESH:D008146 SNOMEDCT_US_2016_03_01:59350003 UMLS_CUI:C0024025 Louping ill disease_ontology DOID:10250 louping ill A viral infectious disease that results_in infection in sheep and rarely humans, has_material_basis_in Louping ill virus, which is transmitted_by sheep tick, Ixodes ricinus. The infection has_symptom lethargy, has_symptom muscle pains, has_symptom fever, and has_symptom focal neurological signs. url:http://www.defra.gov.uk/foodfarm/farmanimal/diseases/vetsurveillance/profiles/documents/sp-loupingill.pdf url:http://www.ncbi.nlm.nih.gov/pubmed/15606630 Louping ill ICD9CM_2006:063.1 ICD10CM:K82.4 ICD9CM:575.6 SNOMEDCT_US_2016_03_01:61565001 UMLS_CUI:C0152456 Cholesterolosis of gallbladder disease_ontology DOID:10254 strawberry gallbladder Cholesterolosis of gallbladder ICD9CM_2006:575.6 Conjunctival degenerations and deposits (disorder) disease_ontology DOID:10255 conjunctival degenerations and deposits true Conjunctival degenerations and deposits (disorder) SNOMEDCT_2005_07_31:193885005 vitamin A deficiency with conjunctival xerosis (disorder) disease_ontology DOID:10256 vitamin A deficiency with conjunctival xerosis true vitamin A deficiency with conjunctival xerosis (disorder) SNOMEDCT_2005_07_31:27796003 disease_ontology DOID:10257 vitamin A deficiency true ICD10CM:H92.1 ICD10CM:H92.10 ICD9CM:388.6 ICD9CM:388.60 NCI:C35199 SNOMEDCT_US_2016_03_01:139633004 SNOMEDCT_US_2016_03_01:155250006 SNOMEDCT_US_2016_03_01:162364004 SNOMEDCT_US_2016_03_01:194403000 SNOMEDCT_US_2016_03_01:194405007 SNOMEDCT_US_2016_03_01:267676003 SNOMEDCT_US_2016_03_01:300132001 SNOMEDCT_US_2016_03_01:65668001 UMLS_CUI:C0155540 disease_ontology DOID:10261 discharging ear A Mumps virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person. The infection causes swelling of parotid gland and has_symptom fever, has_symptom nausea, has_symptom anorexia, and has_symptom dark urine. Mumps hepatitis (disorder) disease_ontology DOID:10263 Mumps virus hepatitis true A Mumps virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person. The infection causes swelling of parotid gland and has_symptom fever, has_symptom nausea, has_symptom anorexia, and has_symptom dark urine. url:url:http://www.ncbi.nlm.nih.gov/pubmed/13361586 Mumps hepatitis (disorder) SNOMEDCT_2005_07_31:89231008 A viral infectious disease that results_in inflammation located_in salivary gland, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom fever, has_symptom headache, has_symptom muscle aches, has_symptom tiredness, has_symptom loss of appetite, has_symptom swollen and tender salivary glands under the ears or jaw on one or both sides of the face. ICD10CM:B26 ICD10CM:B26.9 ICD9CM:072 MESH:D009107 NCI:C29888 SNOMEDCT_US_2016_03_01:154352008 SNOMEDCT_US_2016_03_01:186651001 SNOMEDCT_US_2016_03_01:186652008 SNOMEDCT_US_2016_03_01:240526004 SNOMEDCT_US_2016_03_01:36989005 UMLS_CUI:C0026780 disease_ontology DOID:10264 mumps A viral infectious disease that results_in inflammation located_in salivary gland, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom fever, has_symptom headache, has_symptom muscle aches, has_symptom tiredness, has_symptom loss of appetite, has_symptom swollen and tender salivary glands under the ears or jaw on one or both sides of the face. url:http://www.cdc.gov/mumps/about/downloads/mumps-factsheet.pdf SNOMEDCT_US_2016_03_01:93151007 UMLS_CUI:C0153832 disease_ontology DOID:10265 obsolete hairy cell leukemia of spleen true ICD9CM:410.7 UMLS_CUI:C0155655 disease_ontology DOID:10266 subendocardial infarction acute myocardial infarction ICD10CM:I44.60 ICD9CM:426.2 SNOMEDCT_US_2016_03_01:195044001 SNOMEDCT_US_2016_03_01:195045000 SNOMEDCT_US_2016_03_01:266245009 SNOMEDCT_US_2016_03_01:4973001 UMLS_CUI:C0155702 Left bundle branch [block] or [hemiblock] Left bundle branch hemiblock (disorder) Left bundle branch hemiblock NOS (disorder) disease_ontology DOID:10272 left bundle branch hemiblock Left bundle branch [block] or [hemiblock] SNOMEDCT_2005_07_31:195044001 Left bundle branch hemiblock (disorder) SNOMEDCT_2005_07_31:4973001 Left bundle branch hemiblock NOS (disorder) SNOMEDCT_2005_07_31:195045000 A cardiovascular system disease that involves the heart's electrical conduction system. ICD9CM:426.6 SNOMEDCT_US_2016_03_01:195053008 SNOMEDCT_US_2016_03_01:195056000 UMLS_CUI:C0029630 heart rhythm disease disease_ontology DOID:10273 heart conduction disease A cardiovascular system disease that involves the heart's electrical conduction system. url:http://en.wikipedia.org/wiki/Conduction_system_of_the_heart disease_ontology DOID:10274 schizo-affective type schizophrenia in remission true A Pseudomonas infectious disease that involves infection of the intestine caused by the bacterial genus Pseudomonas, which can result in diarrhea, necrotizing enterocolitis, typhlitis and rectal abscess. intestinal infection due to Pseudomonas (disorder) intestinal infectious disease due to pseudomonas disease_ontology DOID:10277 Pseudomonas intestinal infectious disease true A Pseudomonas infectious disease that involves infection of the intestine caused by the bacterial genus Pseudomonas, which can result in diarrhea, necrotizing enterocolitis, typhlitis and rectal abscess. url:http://emedicine.medscape.com/article/970904-overview intestinal infection due to Pseudomonas (disorder) SNOMEDCT_2005_07_31:82930004 Vasa previa complicating labor and delivery, unspecified as to episode of care disease_ontology DOID:10278 Vasa previa complicating labor and delivery true Vasa previa complicating labor and delivery, unspecified as to episode of care ICD9CM_2006:663.50 Vasa praevia Vasa previa (disorder) Vasa previa NOS (disorder) Vasa previa complicating labor and delivery, antepartum Vasa previa unspecified (disorder) disease_ontology DOID:10279 Vasa previa true Vasa praevia SNOMEDCT_2005_07_31:199893002 Vasa previa (disorder) SNOMEDCT_2005_07_31:79668009 Vasa previa NOS (disorder) SNOMEDCT_2005_07_31:199897001 Vasa previa complicating labor and delivery, antepartum ICD9CM_2006:663.53 Vasa previa unspecified (disorder) SNOMEDCT_2005_07_31:199894008 disease_ontology DOID:10280 Vasa previa complicating labor and delivery, delivered true A male reproductive organ cancer that is located_in the prostate. DOID:514 ICD10CM:C61 ICD9CM:185 KEGG:05215 MESH:D011471 NCI:C3343 NCI:C7378 OMIM:176807 OMIM:300147 OMIM:300704 OMIM:601518 OMIM:602759 OMIM:608656 OMIM:608658 OMIM:609299 OMIM:609558 OMIM:610321 OMIM:610997 OMIM:611100 OMIM:611868 OMIM:611928 OMIM:611955 OMIM:611958 OMIM:611959 ORDO:1331 SNOMEDCT_US_2016_03_01:126906006 SNOMEDCT_US_2016_03_01:363448003 SNOMEDCT_US_2016_03_01:399068003 SNOMEDCT_US_2016_03_01:93974005 UMLS_CUI:C0033578 UMLS_CUI:C0376358 NGP - new growth of prostate hereditary prostate cancer malignant tumor of the prostate prostate cancer, familial prostate neoplasm prostatic cancer prostatic neoplasm tumor of the prostate disease_ontology DOID:10283 Xref MGI. OMIM mapping confirmed by DO. [SN]. prostate cancer A male reproductive organ cancer that is located_in the prostate. url:http://www.cancer.gov/dictionary?CdrID=445079 NGP - new growth of prostate SNOMEDCT_2005_07_31:363448003 malignant tumor of the prostate NCI2004_11_17:C7378 prostate cancer, familial MESH:C537243 prostate neoplasm CSP2005:2016-2641 prostatic cancer CSP2005:2016-2641 tumor of the prostate NCI2004_11_17:C3343 A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. EFO:0001663 KEGG:05215 NCI:C4863 SNOMEDCT_US_2016_03_01:154531004 SNOMEDCT_US_2016_03_01:254900004 SNOMEDCT_US_2016_03_01:363448003 UMLS_CUI:C0600139 cancer of prostate carcinoma OF PROSTATE carcinoma of prostate carcinoma of prostate (disorder) disease_ontology DOID:10286 prostate carcinoma A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma cancer of prostate NCI2004_11_17:C4863 cancer of prostate SNOMEDCT_2005_07_31:363448003 carcinoma OF PROSTATE MTH:612 carcinoma of prostate SNOMEDCT_2005_07_31:154531004 carcinoma of prostate (disorder) SNOMEDCT_2005_07_31:254900004 NCI:C5536 SNOMEDCT_US_2016_03_01:399590005 UMLS_CUI:C1302530 squamous cell carcinoma of prostate (disorder) squamous cell carcinoma of the prostate disease_ontology squamous cell carcinoma of prostate DOID:10287 prostate squamous cell carcinoma squamous cell carcinoma of prostate (disorder) SNOMEDCT_2005_07_31:399590005 squamous cell carcinoma of the prostate NCI2004_11_17:C5536 metastatic neoplasm to the prostate secondary malignant neoplasm of prostate (disorder) disease_ontology DOID:10288 metastasis to prostate true metastatic neoplasm to the prostate NCI2004_11_17:C7080 secondary malignant neoplasm of prostate (disorder) SNOMEDCT_2005_07_31:94503003 MESH:C549759 NCI:C5531 UMLS_CUI:C1334615 malignant Phyllodes neoplasm of the prostate disease_ontology DOID:10289 prostate malignant phyllodes tumor malignant Phyllodes neoplasm of the prostate NCI2004_11_17:C5531 ICD10CM:G72.3 MESH:D010245 NCI:C84709 SNOMEDCT_US_2016_03_01:155099000 SNOMEDCT_US_2016_03_01:193241004 SNOMEDCT_US_2016_03_01:267607008 SNOMEDCT_US_2016_03_01:267714003 SNOMEDCT_US_2016_03_01:54696002 UMLS_CUI:C0030443 disease_ontology DOID:1029 familial periodic paralysis NCI:C5533 UMLS_CUI:C1335512 Lymphoma of the prostate lymphoma of prostate disease_ontology DOID:10290 prostate lymphoma Lymphoma of the prostate NCI2004_11_17:C5533 ICD10CM:H50.01 ICD9CM:378.01 MESH:D004948 SNOMEDCT_US_2016_03_01:194075001 SNOMEDCT_US_2016_03_01:5455000 UMLS_CUI:C0152204 disease_ontology DOID:10293 monocular esotropia Intermittent esotropia, monocular Intermittent monocular esotropia (disorder) Monocular intermittent esotropia (disorder) disease_ontology DOID:10294 intermittent monocular esotropia true Intermittent esotropia, monocular ICD9CM_2006:378.21 Intermittent monocular esotropia (disorder) SNOMEDCT_2005_07_31:194101008 Monocular intermittent esotropia (disorder) SNOMEDCT_2005_07_31:31447006 Monocular esotropia with A pattern (disorder) disease_ontology DOID:10295 monocular esotropia with A pattern true Monocular esotropia with A pattern (disorder) SNOMEDCT_2005_07_31:58409000 Monocular esotropia with V pattern (disorder) disease_ontology DOID:10296 monocular esotropia with V pattern true Monocular esotropia with V pattern (disorder) SNOMEDCT_2005_07_31:65215002 ICD10CM:I73.0 MESH:D011928 OMIM:179600 SNOMEDCT_US_2016_03_01:123266007 SNOMEDCT_US_2016_03_01:195295006 SNOMEDCT_US_2016_03_01:22954002 UMLS_CUI:C0034734 Raynaud's disease Raynaud's disease (disorder) Raynaud's syndrome Raynaud's syndrome (disorder) Raynaud's syndrome (disorder) [Ambiguous] Raynaud's syndrome NOS (disorder) disease_ontology DOID:10300 OMIM mapping confirmed by DO. [SN]. Raynaud disease Raynaud's disease CSP2005:0571-7333 Raynaud's disease MTH:639 Raynaud's disease MTHICD9_2006:443.0 Raynaud's disease NCI2004_11_17:C34972 Raynaud's disease SNOMEDCT_2005_07_31:123266007 Raynaud's disease (disorder) SNOMEDCT_2005_07_31:195295006 Raynaud's syndrome ICD9CM_2006:443.0 Raynaud's syndrome SNOMEDCT_2005_07_31:155429004 Raynaud's syndrome SNOMEDCT_2005_07_31:266319002 Raynaud's syndrome (disorder) SNOMEDCT_2005_07_31:195294005 Raynaud's syndrome (disorder) [Ambiguous] SNOMEDCT_2005_07_31:22954002 Raynaud's syndrome NOS (disorder) SNOMEDCT_2005_07_31:195297003 A parotid disease characterized by the inflammation of one or both parotid glands. ICD10CM:K11.2 MESH:D010309 NCI:C114281 SNOMEDCT_US_2016_03_01:14756005 SNOMEDCT_US_2016_03_01:196481002 SNOMEDCT_US_2016_03_01:196484005 UMLS_CUI:C0030583 disease_ontology DOID:10301 parotitis A parotid disease characterized by the inflammation of one or both parotid glands. url:http://en.wikipedia.org/wiki/Parotitis MESH:D010305 UMLS_CUI:C0030579 disease_ontology DOID:10302 parotid disease ICD10CM:K11.2 ICD10CM:K11.20 ICD9CM:527.2 MESH:D012793 NCI:C115165 NCI:C26882 SNOMEDCT_US_2016_03_01:155655005 SNOMEDCT_US_2016_03_01:196481002 SNOMEDCT_US_2016_03_01:196490009 SNOMEDCT_US_2016_03_01:266494007 SNOMEDCT_US_2016_03_01:42982001 UMLS_CUI:C0037023 Sialoadenitis disease_ontology DOID:10303 sialadenitis Sialoadenitis SNOMEDCT_2005_07_31:266494007 A viral infectious disease that results_in infection in humans, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person. Rubulavirus infectious disease disease_ontology DOID:10304 Mumps virus infectious disease true A viral infectious disease that results_in infection in humans, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person. url:http://www.expasy.org/viralzone/all_by_species/88.html A Mumps virus infectious disease that results_in inflammation located_in testis, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom groin pain, has_symptom discharge from penis, has_symptom scrotal swelling, and has_symptom blood in the semen. Mumps orchitis (disorder) disease_ontology DOID:10305 Mumps virus orchitis true A Mumps virus infectious disease that results_in inflammation located_in testis, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom groin pain, has_symptom discharge from penis, has_symptom scrotal swelling, and has_symptom blood in the semen. url:http://www.nlm.nih.gov/medlineplus/ency/article/001280.htm Mumps orchitis (disorder) SNOMEDCT_2005_07_31:78580004 A Mumps virus infectious disease that results_in inflammation located_in peripheral nerves, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom pins-and-needles sensation, has_symptom weakness, and has_symptom numbness. Mumps polyneuropathy (disorder) Polyneuropathy in mumps (disorder) disease_ontology DOID:10307 Mumps virus polyneuritis true A Mumps virus infectious disease that results_in inflammation located_in peripheral nerves, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom pins-and-needles sensation, has_symptom weakness, and has_symptom numbness. url:http://www.merckmanuals.com/home/sec06/ch095/ch095h.html url:http://www.merckmanuals.com/professional/sec14/ch193/ch193d.html Mumps polyneuropathy (disorder) SNOMEDCT_2005_07_31:31524007 Polyneuropathy in mumps (disorder) SNOMEDCT_2005_07_31:193192002 A Mumps virus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom severe headache, and has_symptom neck stiffness. Mumps meningitis (disorder) disease_ontology DOID:10309 Mumps virus meningitis true A Mumps virus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom severe headache, and has_symptom neck stiffness. url:http://www.cyh.com/HealthTopics/HealthTopicDetails.aspx?p=114&np=303&id=1784 Mumps meningitis (disorder) SNOMEDCT_2005_07_31:44201003 ICD10CM:A87 ICD10CM:A87.9 ICD9CM:047.9 MESH:D008587 NCI:C118298 SNOMEDCT_US_2016_03_01:154321007 SNOMEDCT_US_2016_03_01:154984006 SNOMEDCT_US_2016_03_01:154985007 SNOMEDCT_US_2016_03_01:186490006 SNOMEDCT_US_2016_03_01:187403007 SNOMEDCT_US_2016_03_01:192672003 SNOMEDCT_US_2016_03_01:266097006 SNOMEDCT_US_2016_03_01:266190006 SNOMEDCT_US_2016_03_01:267575007 SNOMEDCT_US_2016_03_01:267680008 SNOMEDCT_US_2016_03_01:58170007 UMLS_CUI:C0025297 disease_ontology DOID:10310 viral meningitis A Mumps virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person. The infection has_symptom convulsions, has_symptom drowsiness, has_symptom rigidity of limbs, and has_symptom slurred speech. Mumps encephalitis (disorder) disease_ontology DOID:10311 Mumps virus encephalitis true A Mumps virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person. The infection has_symptom convulsions, has_symptom drowsiness, has_symptom rigidity of limbs, and has_symptom slurred speech. url:http://www.ncbi.nlm.nih.gov/sites/entrez/5046780 Mumps encephalitis (disorder) SNOMEDCT_2005_07_31:31646008 A Mumps virus infectious disease that results_in inflammation located_in pancreas, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom abdominal pain, has_symptom chills, has_symptom fever, and has_symptom persistent vomiting. Mumps pancreatitis (disorder) disease_ontology DOID:10312 Mumps virus pancreatitis true A Mumps virus infectious disease that results_in inflammation located_in pancreas, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom abdominal pain, has_symptom chills, has_symptom fever, and has_symptom persistent vomiting. url:http://emedicine.medscape.com/article/966678-overview Mumps pancreatitis (disorder) SNOMEDCT_2005_07_31:10665004 A endocardium disease characterized by inflammation of the endocardium of the heart chambers and valves. DOID:14058 ICD10CM:I33.9 ICD9CM:421.9 MESH:D004696 NCI:C34582 NCI:C35432 SNOMEDCT_US_2016_03_01:194935007 SNOMEDCT_US_2016_03_01:56819008 SNOMEDCT_US_2016_03_01:91357005 UMLS_CUI:C0014118 UMLS_CUI:C0375268 disease_ontology DOID:10314 endocarditis A endocardium disease characterized by inflammation of the endocardium of the heart chambers and valves. url:http://wn.wikipedia.org/wiki/Endocarditis url:http://www.nhlbi.nih.gov/health/health-topics/topics/endo/ An interstitial lung disease that is caused by the inhalation of dust. ICD10CM:J64 ICD9CM:505 MESH:D011009 NCI:C26861 SNOMEDCT_US_2016_03_01:155587002 SNOMEDCT_US_2016_03_01:155591007 SNOMEDCT_US_2016_03_01:196004000 SNOMEDCT_US_2016_03_01:196016006 SNOMEDCT_US_2016_03_01:266401007 SNOMEDCT_US_2016_03_01:40122008 UMLS_CUI:C0032273 disease_ontology DOID:10316 pneumoconiosis An interstitial lung disease that is caused by the inhalation of dust. url:http://en.wikipedia.org/wiki/Pneumoconiosis NCI:C27559 SNOMEDCT_US_2016_03_01:233759002 UMLS_CUI:C0340184 disease_ontology DOID:10319 mixed mineral dust pneumoconiosis A pneumoconiosis caused by inhalation and retention of asbestos fibers. CSP:2596-4484 ICD10CM:J61 ICD9CM:501 MESH:D001195 NCI:C84573 SNOMEDCT_US_2016_03_01:155589004 SNOMEDCT_US_2016_03_01:196006003 SNOMEDCT_US_2016_03_01:22607003 SNOMEDCT_US_2016_03_01:266400008 UMLS_CUI:C0003949 disease_ontology DOID:10320 asbestosis A pneumoconiosis caused by inhalation and retention of asbestos fibers. url:http://en.wikipedia.org/wiki/Asbestosis MESH:C537080 NCI:C34410 SNOMEDCT_US_2016_03_01:50076003 UMLS_CUI:C0340177 disease_ontology DOID:10321 baritosis A pneumoconiosis that involves allergic response located_in lungs caused by inhalation of beryllium compounds. ICD10CM:J63.2 MESH:D001607 SNOMEDCT_US_2016_03_01:8247009 UMLS_CUI:C0005138 beryllium poisoning disease_ontology DOID:10322 berylliosis A pneumoconiosis that involves allergic response located_in lungs caused by inhalation of beryllium compounds. sn:IEDB url:http://en.wikipedia.org/wiki/Berylliosis beryllium poisoning CSP2005:1858-2321 ICD10CM:J66.0 MESH:D002095 NCI:C84605 SNOMEDCT_US_2016_03_01:155589004 SNOMEDCT_US_2016_03_01:233689004 SNOMEDCT_US_2016_03_01:266400008 SNOMEDCT_US_2016_03_01:85761009 UMLS_CUI:C0006542 Flax-dressers' disease Stripper's asthma cotton mill fever disease_ontology DOID:10323 byssinosis Flax-dressers' disease SNOMEDCT_2005_07_31:196014009 Stripper's asthma SNOMEDCT_2005_07_31:13151001 cotton mill fever CSP2005:2596-2097 CSP:2596-4484 ICD10CM:J60 MESH:D000874 NCI:C34389 SNOMEDCT_US_2016_03_01:33548005 UMLS_CUI:C0003164 disease_ontology DOID:10324 anthracosilicosis A pneumoconiosis that is an inflammation and scarring of the uper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles. DOID:14007 ICD10CM:J62 ICD10CM:J62.8 ICD9CM:502 MESH:D012829 NCI:C3369 SNOMEDCT_US_2016_03_01:155590008 SNOMEDCT_US_2016_03_01:196010000 SNOMEDCT_US_2016_03_01:805002 UMLS_CUI:C0037116 Pneumoconiosis due to silicates Silica pneumoconiosis Silicotic fibrosis of lung silicotuberculosis disease_ontology DOID:10325 silicosis A pneumoconiosis that is an inflammation and scarring of the uper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles. ls:IEDB url:http://en.wikipedia.org/wiki/Silicosis Pneumoconiosis due to silicates SNOMEDCT_2005_07_31:83316006 Silica pneumoconiosis SNOMEDCT_2005_07_31:196010000 Silicotic fibrosis of lung MTHICD9_2006:502 A pneumoconiosis that results_in humans that also have rheumatoid arthritis. MESH:D002205 SNOMEDCT_US_2016_03_01:111280008 SNOMEDCT_US_2016_03_01:201813004 SNOMEDCT_US_2016_03_01:398640008 UMLS_CUI:C0006915 Caplan syndrome Caplan's disease Caplans syndrome Rheumatoid pneumoconiosis disease_ontology DOID:10326 Caplan's syndrome A pneumoconiosis that results_in humans that also have rheumatoid arthritis. url:http://en.wikipedia.org/wiki/Caplan%27s_syndrome url:http://www.nlm.nih.gov/medlineplus/ency/article/000137.htm Caplans syndrome SNOMEDCT_2005_07_31:201813004 Rheumatoid pneumoconiosis SNOMEDCT_2005_07_31:111280008 ICD10CM:J60 ICD9CM:500 MESH:D055008 NCI:C34390 SNOMEDCT_US_2016_03_01:155588007 SNOMEDCT_US_2016_03_01:29422001 UMLS_CUI:C0003165 Coal Miner's Pneumoconiosis Coal workers' lung Coal workers' pneumoconiosis Melanoedema black lung disease_ontology DOID:10327 anthracosis Coal Miner's Pneumoconiosis NCI2004_11_17:C34390 Coal workers' lung MTHICD9_2006:500 Coal workers' pneumoconiosis ICD9CM_2006:500 Melanoedema SNOMEDCT_2005_07_31:29422001 black lung CSP2005:2596-4484 ICD10CM:J63.4 MESH:D012806 SNOMEDCT_US_2016_03_01:155591007 SNOMEDCT_US_2016_03_01:266401007 SNOMEDCT_US_2016_03_01:62371005 UMLS_CUI:C0037061 pulmonary siderosis disease_ontology DOID:10328 siderosis pulmonary siderosis SNOMEDCT_2005_07_31:62371005 ICD10CM:J62.0 NCI:C27026 SNOMEDCT_US_2016_03_01:73144008 UMLS_CUI:C0238377 Talc Pneumoconiosis disease_ontology DOID:10329 pneumoconiosis due to talc Talc Pneumoconiosis NCI2004_11_17:C27026 NCI:C35397 SNOMEDCT_US_2016_03_01:1259003 UMLS_CUI:C0340186 Schistosis disease_ontology DOID:10330 slate pneumoconiosis Schistosis SNOMEDCT_2005_07_31:1259003 NCI:C35315 SNOMEDCT_US_2016_03_01:36696005 UMLS_CUI:C0264435 Kaolinosis disease_ontology DOID:10331 kaolin pneumoconiosis Kaolinosis SNOMEDCT_2005_07_31:36696005 disorder of optic chiasm associated with vascular disorder disease_ontology DOID:10332 disorder of optic chiasm due to vascular disorder true disorder of optic chiasm associated with vascular disorder ICD9CM_2006:377.53 DOID:1295 Congenital abnormality of skull and face bones (disorder) Congenital anomalies of skull and face bones Skull and face &/or face bone anomalies Skull or face bone anomaly NOS Skull or face bone anomaly NOS (disorder) disease_ontology DOID:10334 craniofacial abnormality true Congenital abnormality of skull and face bones (disorder) SNOMEDCT_2005_07_31:268239009 Congenital anomalies of skull and face bones ICD9CM_2006:756.0 Skull and face &/or face bone anomalies SNOMEDCT_2005_07_31:205409008 Skull or face bone anomaly NOS SNOMEDCT_2005_07_31:205423005 Skull or face bone anomaly NOS (disorder) SNOMEDCT_2005_07_31:268269002 ICD10CM:H47.23 ICD9CM:377.14 SNOMEDCT_US_2016_03_01:1207009 UMLS_CUI:C0271342 Glaucomatous atrophy [cupping] of optic disc disease_ontology DOID:10337 glaucomatous atrophy of optic disc Glaucomatous atrophy [cupping] of optic disc ICD9CM_2006:377.14 Unspecified schizophrenia, subchronic state subchronic Schizophrenia subchronic schizophrenia (disorder) disease_ontology DOID:10338 subchronic schizophrenia true Unspecified schizophrenia, subchronic state ICD9CM_2006:295.91 subchronic Schizophrenia NCI2004_11_17:C35185 subchronic schizophrenia (disorder) SNOMEDCT_2005_07_31:16990005 simple schizophrenia simple schizophrenia (disorder) simple schizophrenia NOS (disorder) simple type Schizophrenia simple type schizophrenia simple type schizophrenia, unspecified state disease_ontology DOID:10339 schizophrenia simplex true simple schizophrenia CSP2005:2485-0932 simple schizophrenia SNOMEDCT_2005_07_31:154866008 simple schizophrenia SNOMEDCT_2005_07_31:192325006 simple schizophrenia (disorder) SNOMEDCT_2005_07_31:191527001 simple schizophrenia NOS (disorder) SNOMEDCT_2005_07_31:191534004 simple type Schizophrenia NCI2004_11_17:C35269 simple type schizophrenia ICD9CM_2006:295.0 simple type schizophrenia, unspecified state ICD9CM_2006:295.00 Residual schizophrenia, subchronic state subchronic residual schizophrenia (disorder) disease_ontology DOID:10340 residual subchronic schizophrenia true Residual schizophrenia, subchronic state ICD9CM_2006:295.61 subchronic residual schizophrenia (disorder) SNOMEDCT_2005_07_31:76566000 ICD10CM:G03.1 ICD9CM:322.2 SNOMEDCT_US_2016_03_01:21664006 UMLS_CUI:C0154653 disease_ontology DOID:10341 chronic meningitis Latent schizophrenia, subchronic state Latent subchronic Schizophrenia subchronic latent schizophrenia (disorder) disease_ontology DOID:10342 subchronic latent schizophrenia true Latent schizophrenia, subchronic state ICD9CM_2006:295.51 Latent subchronic Schizophrenia NCI2004_11_17:C35181 subchronic latent schizophrenia (disorder) SNOMEDCT_2005_07_31:191561004 Latent Schizophrenia Latent schizophrenia Latent schizophrenia (disorder) Latent schizophrenia NOS (disorder) Latent schizophrenia, unspecified state Latent schizophrenic reaction Unspecified latent schizophrenia (disorder) disease_ontology DOID:10343 latent schizophrenia true Latent Schizophrenia NCI2004_11_17:C34759 Latent schizophrenia ICD9CM_2006:295.5 Latent schizophrenia SNOMEDCT_2005_07_31:192328008 Latent schizophrenia (disorder) SNOMEDCT_2005_07_31:191559008 Latent schizophrenia NOS (disorder) SNOMEDCT_2005_07_31:191566009 Latent schizophrenia, unspecified state ICD9CM_2006:295.50 Latent schizophrenic reaction MTHICD9_2006:295.5 Unspecified latent schizophrenia (disorder) SNOMEDCT_2005_07_31:191560003 ICD10CM:H02.52 ICD9CM:374.46 MESH:D016569 UMLS_CUI:C0005744 disease_ontology DOID:10348 blepharophimosis ICD10CM:N60.0 ICD10CM:N60.09 ICD9CM:610.0 NCI:C3378 SNOMEDCT_US_2016_03_01:198090005 SNOMEDCT_US_2016_03_01:266578003 SNOMEDCT_US_2016_03_01:270538000 UMLS_CUI:C0037619 Solitary Cyst of the breast Solitary cyst of breast Solitary cyst of breast (disorder) disease_ontology DOID:10349 solitary cyst of breast Solitary Cyst of the breast NCI2004_11_17:C3378 Solitary cyst of breast ICD9CM_2006:610.0 Solitary cyst of breast SNOMEDCT_2005_07_31:198090005 Solitary cyst of breast SNOMEDCT_2005_07_31:270538000 Solitary cyst of breast (disorder) SNOMEDCT_2005_07_31:266578003 ICD10CM:C94.8 NCI:C8647 SNOMEDCT_US_2016_03_01:128833001 UMLS_CUI:C1292777 Aggressive NK-cell leukemia (morphologic abnormality) large granular Lymphocyte Leukemia, NK-cell type disease_ontology DOID:1035 natural killer cell leukemia Aggressive NK-cell leukemia (morphologic abnormality) SNOMEDCT_2005_07_31:128833001 large granular Lymphocyte Leukemia, NK-cell type NCI2004_11_17:C8647 ICD10CM:N60.0 MESH:D047688 NCI:C5315 SNOMEDCT_US_2016_03_01:270538000 SNOMEDCT_US_2016_03_01:399294002 SNOMEDCT_US_2016_03_01:56726003 UMLS_CUI:C0006144 Cyst of the breast disease_ontology DOID:10350 breast cyst Cyst of the breast NCI2004_11_17:C5315 Comedomastitis Mammary duct ectasia (disorder) Mammary duct ectasia [Ambiguous] disease_ontology DOID:10351 mammary duct ectasia true Comedomastitis MTHICD9_2006:610.4 Comedomastitis NCI2004_11_17:C3522 Mammary duct ectasia (disorder) SNOMEDCT_2005_07_31:22049009 Mammary duct ectasia [Ambiguous] SNOMEDCT_2005_07_31:198093007 ICD10CM:N60.2 ICD9CM:610.2 SNOMEDCT_US_2016_03_01:198092002 SNOMEDCT_US_2016_03_01:23260002 SNOMEDCT_US_2016_03_01:270893004 UMLS_CUI:C1305875 Fibroadenosis - breast Fibroadenosis of breast Fibroadenosis of breast (disorder) Fibroadenosis of breast NOS (disorder) disease_ontology DOID:10352 breast fibroadenosis Fibroadenosis - breast SNOMEDCT_2005_07_31:270893004 Fibroadenosis of breast ICD9CM_2006:610.2 Fibroadenosis of breast (disorder) SNOMEDCT_2005_07_31:23260002 Fibroadenosis of breast NOS (disorder) SNOMEDCT_2005_07_31:198092002 ICD10CM:N60.3 ICD9CM:610.3 NCI:C3660 SNOMEDCT_US_2016_03_01:29070004 UMLS_CUI:C0156318 Fibrosclerosis of breast Fibrosclerosis of breast (disorder) Fibrosis of the breast disease_ontology DOID:10353 fibrosclerosis of breast Fibrosclerosis of breast ICD9CM_2006:610.3 Fibrosclerosis of breast (disorder) SNOMEDCT_2005_07_31:29070004 Fibrosis of the breast NCI2004_11_17:C3660 ICD10CM:N60 ICD10CM:N60.1 ICD9CM:610.1 MESH:D005348 NCI:C3039 SNOMEDCT_US_2016_03_01:198091009 SNOMEDCT_US_2016_03_01:237436008 SNOMEDCT_US_2016_03_01:27431007 UMLS_CUI:C0016034 Diffuse cystic mastopathy FIBROcystic DISEASE OF breast Fibrocystic disease of breast Fibrocystic disease of breast (disorder) breast Fibrocystic Change disease_ontology DOID:10354 breast fibrocystic disease Diffuse cystic mastopathy ICD9CM_2006:610.1 Diffuse cystic mastopathy SNOMEDCT_2005_07_31:237436008 FIBROcystic DISEASE OF breast MTH:302 Fibrocystic disease of breast MTH:119 Fibrocystic disease of breast MTHICD9_2006:610.1 Fibrocystic disease of breast SNOMEDCT_2005_07_31:198091009 Fibrocystic disease of breast (disorder) SNOMEDCT_2005_07_31:27431007 breast Fibrocystic Change NCI2004_11_17:C3039 A leukemia that develops slowly. disease_ontology CLL CML adult chronic leukemia DOID:1036 chronic leukemia A leukemia that develops slowly. url:http://www.nlm.nih.gov/medlineplus/leukemiaadultchronic.html ICD9CM:322.1 SNOMEDCT_US_2016_03_01:25671008 UMLS_CUI:C0154652 disease_ontology DOID:10361 eosinophilic meningitis ICD10CM:C63.0 ICD9CM:187.5 NCI:C3558 SNOMEDCT_US_2016_03_01:363452003 SNOMEDCT_US_2016_03_01:93783009 UMLS_CUI:C0153602 malignant Epididymal tumor malignant neoplasm of epididymis malignant tumor of epididymis (disorder) disease_ontology DOID:10366 epididymis cancer malignant Epididymal tumor NCI2004_11_17:C3558 malignant neoplasm of epididymis ICD9CM_2006:187.5 malignant neoplasm of epididymis SNOMEDCT_2005_07_31:93783009 malignant tumor of epididymis (disorder) SNOMEDCT_2005_07_31:363452003 metastatic neoplasm to the Epididymis secondary malignant neoplasm of epididymis (disorder) disease_ontology DOID:10367 metastatic tumor to the epididymis true metastatic neoplasm to the Epididymis NCI2004_11_17:C8544 secondary malignant neoplasm of epididymis (disorder) SNOMEDCT_2005_07_31:94283001 An epididymis cancer that derives_from epithelial cells of glandular origin. NCI:C39957 UMLS_CUI:C1510784 disease_ontology adenocarcinoma of the epididymis DOID:10368 epididymis adenocarcinoma An epididymis cancer that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma A leukemia that has_material_basis_in lymphoblasts (immature white blood cells). ICD10CM:C91 ICD10CM:C91.9 ICD10CM:C91.90 ICD9CM:204 ICD9CM:204.9 MESH:D007945 NCI:C7539 SNOMEDCT_US_2016_03_01:154587007 SNOMEDCT_US_2016_03_01:188725004 SNOMEDCT_US_2016_03_01:188731001 SNOMEDCT_US_2016_03_01:190033006 SNOMEDCT_US_2016_03_01:269631008 SNOMEDCT_US_2016_03_01:32280000 SNOMEDCT_US_2016_03_01:93170002 UMLS_CUI:C0023448 disease_ontology DOID:1037 lymphoblastic leukemia A leukemia that has_material_basis_in lymphoblasts (immature white blood cells). url:http://www.cancer.gov/dictionary?CdrID=616067 A primary bacterial infectious disease that results_in infection located_in skin, located_in joint or located_in bone, has_material_basis_in Treponema pallidum subsp pertenue, which is transmitted_by direct skin contact with an infected person. The infection has_symptom skin lesions. ICD10CM:A66 ICD10CM:A66.9 ICD9CM:102 ICD9CM:102.9 MESH:D015001 NCI:C41353 SNOMEDCT_US_2016_03_01:154391003 SNOMEDCT_US_2016_03_01:186974004 SNOMEDCT_US_2016_03_01:187372000 SNOMEDCT_US_2016_03_01:266213004 SNOMEDCT_US_2016_03_01:70647001 UMLS_CUI:C0043388 Bouba frambesia frambesia tropica frambosie polypapilloma tropicum thymosis disease_ontology DOID:10371 yaws A primary bacterial infectious disease that results_in infection located_in skin, located_in joint or located_in bone, has_material_basis_in Treponema pallidum subsp pertenue, which is transmitted_by direct skin contact with an infected person. The infection has_symptom skin lesions. url:http://en.wikipedia.org/wiki/Yaws url:http://www.who.int/mediacentre/factsheets/fs316/en/ ICD10CM:H53.03 ICD9CM:368.01 MESH:D000550 SNOMEDCT_US_2016_03_01:35600002 UMLS_CUI:C0750903 Strabismic amblyopia disease_ontology DOID:10375 suppression amblyopia Strabismic amblyopia ICD9CM_2006:368.01 CSP:1114-9655 ICD10CM:H53.00 ICD9CM:368.00 MESH:D000550 NCI:C118764 SNOMEDCT_US_2016_03_01:111517004 SNOMEDCT_US_2016_03_01:155145007 SNOMEDCT_US_2016_03_01:193637007 SNOMEDCT_US_2016_03_01:267627009 SNOMEDCT_US_2016_03_01:267726008 SNOMEDCT_US_2016_03_01:387742006 UMLS_CUI:C0002418 disease_ontology DOID:10376 amblyopia ICD10CM:H53.02 ICD9CM:368.03 SNOMEDCT_US_2016_03_01:90927000 UMLS_CUI:C0152190 Refractive amblyopia disease_ontology DOID:10377 ametropic amblyopia Refractive amblyopia ICD9CM_2006:368.03 ICD10CM:H53.01 ICD9CM:368.02 SNOMEDCT_US_2016_03_01:193638002 SNOMEDCT_US_2016_03_01:21457000 UMLS_CUI:C0152189 Deprivation amblyopia disease_ontology DOID:10378 disuse amblyopia Deprivation amblyopia ICD9CM_2006:368.02 disease_ontology DOID:1038 mature T-cell neoplasm true DOID:10379 DOID:14438 Precipitate labor, antepartum Precipitate labor, with delivery disease_ontology DOID:10380 precipitate labor true Staphylococcal meningitis (disorder) disease_ontology DOID:10381 staphylococcal meningitis true Staphylococcal meningitis (disorder) SNOMEDCT_2005_07_31:12166008 ICD10CM:G54.5 ICD9CM:353.5 MESH:D020968 OMIM:162100 SNOMEDCT_US_2016_03_01:193113006 SNOMEDCT_US_2016_03_01:26609002 SNOMEDCT_US_2016_03_01:3548001 UMLS_CUI:C1510479 neuralgic amyotrophy neuralgic amyotrophy (disorder) disease_ontology DOID:10383 OMIM mapping confirmed by DO. [SN]. amyotrophic neuralgia neuralgic amyotrophy ICD9CM_2006:353.5 neuralgic amyotrophy SNOMEDCT_2005_07_31:193113006 neuralgic amyotrophy SNOMEDCT_2005_07_31:3548001 neuralgic amyotrophy (disorder) SNOMEDCT_2005_07_31:26609002 Papilledema associated with decreased ocular pressure (disorder) disease_ontology DOID:10384 papilledema associated with decreased ocular pressure true Papilledema associated with decreased ocular pressure (disorder) SNOMEDCT_2005_07_31:79155000 MESH:D015463 NCI:C3181 SNOMEDCT_US_2016_03_01:10300002 SNOMEDCT_US_2016_03_01:110006004 SNOMEDCT_US_2016_03_01:128923008 UMLS_CUI:C0023486 disease_ontology DOID:1039 prolymphocytic leukemia ICD10CM:M89.4 ICD9CM:731.2 MESH:D010005 SNOMEDCT_US_2016_03_01:203357004 SNOMEDCT_US_2016_03_01:222712005 SNOMEDCT_US_2016_03_01:46922002 UMLS_CUI:C0029412 Bamberger-Marie disease HPOA - hypertrophic pulmonary osteoarthropathy Marie Bamberger disease hypertrophic pulmonary osteoarthropathy hypertrophic pulmonary osteoarthropathy (disorder) hypertrophic pulmonary osteoarthropathy (disorder) [Ambiguous] disease_ontology DOID:10393 secondary hypertrophic osteoarthropathy Bamberger-Marie disease MTHICD9_2006:731.2 HPOA - hypertrophic pulmonary osteoarthropathy SNOMEDCT_2005_07_31:203357004 Marie Bamberger disease CSP2005:2715-1220 hypertrophic pulmonary osteoarthropathy ICD9CM_2006:731.2 hypertrophic pulmonary osteoarthropathy (disorder) SNOMEDCT_2005_07_31:222712005 hypertrophic pulmonary osteoarthropathy (disorder) [Ambiguous] SNOMEDCT_2005_07_31:46922002 A plague that results_in infection located_in lung, which results from direct inhalation of the bacillus and has_symptom fever, has_symptom chills, has_symptom cough and has_symptom difficulty breathing. DOID:10401 DOID:10402 ICD10CM:A20.2 ICD9CM:020.3 ICD9CM:020.4 ICD9CM:020.5 MESH:D010930 SNOMEDCT_US_2016_03_01:186283004 SNOMEDCT_US_2016_03_01:35339003 SNOMEDCT_US_2016_03_01:38976008 SNOMEDCT_US_2016_03_01:67525007 UMLS_CUI:C0152937 UMLS_CUI:C0152938 UMLS_CUI:C0524688 primary pneumonic plague secondary pneumonic plague disease_ontology DOID:10398 pneumonic plague A plague that results_in infection located_in lung, which results from direct inhalation of the bacillus and has_symptom fever, has_symptom chills, has_symptom cough and has_symptom difficulty breathing. url:http://emedicine.medscape.com/article/829233-overview#a0104 url:http://www.cdc.gov/ncidod/dvbid/plague/facts.htm url:http://www.cdc.gov/ncidod/dvbid/plague/facts.htm#content_area ICD9CM:098.34 SNOMEDCT_US_2016_03_01:23975003 UMLS_CUI:C0153205 Gonococcal seminal vesiculitis, chronic disease_ontology DOID:10399 seminal vesicle chronic gonorrhea Gonococcal seminal vesiculitis, chronic ICD9CM_2006:098.34 A disease by infectious agent that results_in infection, has_material_basis_in Bacteria. ICD10CM:A49 ICD10CM:A49.9 MESH:D001424 MESH:D016905 MESH:D016908 NCI:C2890 SNOMEDCT_US_2016_03_01:154318005 SNOMEDCT_US_2016_03_01:186470002 SNOMEDCT_US_2016_03_01:187347000 SNOMEDCT_US_2016_03_01:266182006 SNOMEDCT_US_2016_03_01:266187000 SNOMEDCT_US_2016_03_01:301811001 SNOMEDCT_US_2016_03_01:87628006 UMLS_CUI:C0004623 disease_ontology DOID:104 bacterial infectious disease A disease by infectious agent that results_in infection, has_material_basis_in Bacteria. url:http://en.wikipedia.org/wiki/Pathogenic_bacteria A lymphoblastic leukemia characterized by over production of B-cells and their accumulation in bone marrow and blood. EFO:0000095 ICD10CM:C91.1 ICD10CM:C91.10 ICD9CM:204.1 MESH:D015451 NCI:C3163 OMIM:109543 OMIM:151400 OMIM:609630 OMIM:612557 OMIM:612558 OMIM:612559 ORDO:67038 SNOMEDCT_US_2016_03_01:154589005 SNOMEDCT_US_2016_03_01:277473004 SNOMEDCT_US_2016_03_01:51092000 SNOMEDCT_US_2016_03_01:92814006 UMLS_CUI:C0023434 B-cell chronic lymphocytic leukemia CLL chronic lymphatic leukemia lymphoplasmacytic leukemia disease_ontology B-cell chronic lymphoid leukemia DOID:1040 Xref MGI. chronic lymphocytic leukemia A lymphoblastic leukemia characterized by over production of B-cells and their accumulation in bone marrow and blood. url:http://en.wikipedia.org/wiki/B-cell_chronic_lymphocytic_leukemia url:http://www.cancer.gov/dictionary?cdrid=346545 SNOMEDCT_US_2016_03_01:301990003 UMLS_CUI:C0578661 Gonococcal seminal vesiculitis (acute) Gonorrhea of seminal vesicle disease_ontology DOID:10400 gonococcal seminal vesiculitis Gonococcal seminal vesiculitis (acute) ICD9CM_2006:098.14 Gonorrhea of seminal vesicle MTHICD9_2006:098.14 DOID:10262 DOID:1041 Generalized infection during labor, delivered antepartum generalized infection during labor disease_ontology DOID:1042 Generalized infection during labor true ICD9CM:523.3 ICD9CM:523.33 NCI:C34354 SNOMEDCT_US_2016_03_01:155646007 SNOMEDCT_US_2016_03_01:196361004 SNOMEDCT_US_2016_03_01:196362006 SNOMEDCT_US_2016_03_01:196364007 SNOMEDCT_US_2016_03_01:21638000 UMLS_CUI:C0001342 acute Periodontitis acute pericementitis (disorder) acute periodontitis acute periodontitis (disorder) acute periodontitis NOS (disorder) disease_ontology DOID:10423 acute pericementitis acute Periodontitis NCI2004_11_17:C34354 acute pericementitis (disorder) SNOMEDCT_2005_07_31:196362006 acute periodontitis ICD9CM_2006:523.3 acute periodontitis SNOMEDCT_2005_07_31:155646007 acute periodontitis SNOMEDCT_2005_07_31:196361004 acute periodontitis (disorder) SNOMEDCT_2005_07_31:21638000 acute periodontitis NOS (disorder) SNOMEDCT_2005_07_31:196364007 A physical disorder that has_material_basis_in abnormal segmentation of the vertebra during fetal development which results_in fusion located_in cervical vertebra. DOID:14747 ICD10CM:Q76.1 ICD9CM:756.16 MESH:D007714 NCI:C98967 OMIM:118100 OMIM:214300 OMIM:613702 ORDO:2345 SNOMEDCT_US_2016_03_01:129581007 SNOMEDCT_US_2016_03_01:157003009 SNOMEDCT_US_2016_03_01:205441002 SNOMEDCT_US_2016_03_01:268349005 SNOMEDCT_US_2016_03_01:388981000 SNOMEDCT_US_2016_03_01:5601008 UMLS_CUI:C0022738 Klippel-Feil and Turner syndrome Klippel-Feil deformity, deafness and facial asymmetry autosomal dominant Klippel-Feil syndrome congenital dystrophia brevicollis congenital synostosis of cervical vertebrae disease_ontology DOID:10426 Xref MGI. OMIM mapping confirmed by DO. [SN]. Klippel-Feil syndrome A physical disorder that has_material_basis_in abnormal segmentation of the vertebra during fetal development which results_in fusion located_in cervical vertebra. url:http://emedicine.medscape.com/article/1264848-overview url:http://en.wikipedia.org/wiki/Klippel%E2%80%93Feil_syndrome url:http://www.healthline.com/galecontent/klippel-feil-syndrome url:http://www.ninds.nih.gov/disorders/klippel_feil/klippel_feil.htm url:http://www.wheelessonline.com/ortho/klippel_feil_syndrome Klippel-Feil and Turner syndrome SNOMEDCT_2005_07_31:129581007 congenital dystrophia brevicollis SNOMEDCT_2005_07_31:388981000 ICD10CM:H18.61 ICD9CM:371.61 SNOMEDCT_US_2016_03_01:193844000 SNOMEDCT_US_2016_03_01:75253008 UMLS_CUI:C0155131 Keratoconus, stable condition disease_ontology DOID:10428 stable condition keratoconus Keratoconus, stable condition SNOMEDCT_2005_07_31:193844000 A suppurative otitis media with sudden onset and a short course. ICD9CM:382.02 UMLS_CUI:C0155439 disease_ontology DOID:10435 purulent acute otitis media A suppurative otitis media with sudden onset and a short course. url:http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA128&lpg#v=onepage&q=&f=false disease_ontology DOID:10437 metastasis to lymph node true ICD10CM:H16.05 ICD9CM:370.07 SNOMEDCT_US_2016_03_01:22440001 UMLS_CUI:C0155072 Mooren ulcer disease_ontology DOID:10439 Mooren's ulcer Non-traumatic muscle tear Nontraumatic rupture of muscle (disorder) Rupture of muscle, nontraumatic disease_ontology DOID:1044 nontraumatic rupture of muscle true Non-traumatic muscle tear SNOMEDCT_2005_07_31:156729009 Non-traumatic muscle tear SNOMEDCT_2005_07_31:268106003 Nontraumatic rupture of muscle (disorder) SNOMEDCT_2005_07_31:29191005 Rupture of muscle, nontraumatic ICD9CM_2006:728.83 ICD10CM:H16.06 ICD9CM:370.05 SNOMEDCT_US_2016_03_01:397977001 SNOMEDCT_US_2016_03_01:59939007 UMLS_CUI:C0155071 disease_ontology DOID:10440 mycotic corneal ulcer ICD10CM:H16.04 ICD9CM:370.01 SNOMEDCT_US_2016_03_01:47398006 UMLS_CUI:C0155067 disease_ontology DOID:10441 marginal corneal ulcer ICD10CM:H16.03 ICD9CM:370.04 SNOMEDCT_US_2016_03_01:193762002 SNOMEDCT_US_2016_03_01:267633000 SNOMEDCT_US_2016_03_01:6395007 UMLS_CUI:C0155070 disease_ontology DOID:10442 hypopyon ulcer ICD10CM:H20.05 ICD9CM:364.05 NCI:C50593 SNOMEDCT_US_2016_03_01:87807004 UMLS_CUI:C0020641 disease_ontology DOID:10443 hypopyon ICD10CM:H16.02 ICD9CM:370.02 SNOMEDCT_US_2016_03_01:111520007 SNOMEDCT_US_2016_03_01:193760005 UMLS_CUI:C0155068 disease_ontology DOID:10444 ring corneal ulcer ICD10CM:H16.07 ICD9CM:370.06 SNOMEDCT_US_2016_03_01:46606001 UMLS_CUI:C0151844 disease_ontology DOID:10445 perforated corneal ulcer DOID:10446 DOID:14076 DOID:14077 Thyroid dysfunction of mother, with delivery antepartum thyroid dysfunction postpartum thyroid dysfunction disease_ontology DOID:10447 thyroid dysfunction complicating pregnancy, childbirth, or the puerperium true disease_ontology DOID:1045 fascia disease true An upper respiratory tract disease which involves inflammation of the tonsils resulting from bacterial (Group A streptococcus) and viral (Epstein-Barr virus, adenovirus) infections. Symptoms include a severe sore throat (which may be experienced as referred pain to the ears), painful/difficult swallowing, coughing, headache, myalgia (muscle aches), fever and chills. Tonsillitis is characterized by signs of red, swollen tonsils which may have a purulent exudative coating of white patches (i.e. pus). Swelling of the cheeks and neck may occur. DOID:10454 DOID:13751 ICD10CM:J35.01 ICD9CM:474.00 MESH:D014069 NCI:C116006 SNOMEDCT_US_2016_03_01:155530006 SNOMEDCT_US_2016_03_01:195665006 SNOMEDCT_US_2016_03_01:195794009 SNOMEDCT_US_2016_03_01:90176007 SNOMEDCT_US_2016_03_01:90979004 UMLS_CUI:C0040425 UMLS_CUI:C0149517 Throat infection - tonsillitis chronic tonsillitis disease_ontology DOID:10456 tonsillitis An upper respiratory tract disease which involves inflammation of the tonsils resulting from bacterial (Group A streptococcus) and viral (Epstein-Barr virus, adenovirus) infections. Symptoms include a severe sore throat (which may be experienced as referred pain to the ears), painful/difficult swallowing, coughing, headache, myalgia (muscle aches), fever and chills. Tonsillitis is characterized by signs of red, swollen tonsils which may have a purulent exudative coating of white patches (i.e. pus). Swelling of the cheeks and neck may occur. url:http://en.wikipedia.org/wiki/Tonsillitis url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=tonsillitis Throat infection - tonsillitis SNOMEDCT_2005_07_31:195665006 A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough. ICD10CM:A48.1 ICD9CM:482.84 MESH:D007877 SNOMEDCT_US_2016_03_01:154315008 SNOMEDCT_US_2016_03_01:195889001 SNOMEDCT_US_2016_03_01:266186009 SNOMEDCT_US_2016_03_01:269574000 SNOMEDCT_US_2016_03_01:312403005 SNOMEDCT_US_2016_03_01:74881002 UMLS_CUI:C0023241 (Legionella) or (Legionnaire's disease) Infection by Legionella pneumophilia (disorder) Legionella pneumonia (disorder) disease_ontology DOID:10457 Legionnaires' disease A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough. url:http://en.wikipedia.org/wiki/Legionellosis (Legionella) or (Legionnaire's disease) SNOMEDCT_2005_07_31:266186009 Infection by Legionella pneumophilia (disorder) SNOMEDCT_2005_07_31:269574000 Legionella pneumonia (disorder) SNOMEDCT_2005_07_31:195889001 A primary bacterial infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Legionella pneumophila, which is transmitted_by inhalation of droplets containing bacteria. The symptoms include dry cough, fever, headache and diarrhea. MESH:D007876 SNOMEDCT_US_2016_03_01:26726000 UMLS_CUI:C0023240 Legionella infection (disorder) disease_ontology DOID:10458 legionellosis A primary bacterial infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Legionella pneumophila, which is transmitted_by inhalation of droplets containing bacteria. The symptoms include dry cough, fever, headache and diarrhea. url:http://en.wikipedia.org/wiki/Legionellosis url:http://www.cdc.gov/mmwr/preview/mmwrhtml/mm4934a1.htm Legionella infection (disorder) SNOMEDCT_2005_07_31:26726000 An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus. ICD10CM:J00 ICD9CM:460 MESH:D003139 NCI:C34500 NCI:C78599 SNOMEDCT_US_2016_03_01:155497009 SNOMEDCT_US_2016_03_01:195648002 SNOMEDCT_US_2016_03_01:232341009 SNOMEDCT_US_2016_03_01:232342002 SNOMEDCT_US_2016_03_01:266377009 SNOMEDCT_US_2016_03_01:54150009 SNOMEDCT_US_2016_03_01:82272006 UMLS_CUI:C0009443 Acute viral rhinopharyngitis Nasopharyngitis - acute Nasopharyngitis, acute acute Nasopharyngitis acute coryza acute nasopharyngitis [common cold] acute rhinitis rhino-sinusitis disease_ontology DOID:10459 common cold An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=common%20cold Nasopharyngitis - acute SNOMEDCT_2005_07_31:266377009 Nasopharyngitis, acute MTHICD9_2006:460 acute Nasopharyngitis NCI2004_11_17:C34500 acute nasopharyngitis [common cold] ICD9CM_2006:460 acute rhinitis SNOMEDCT_2005_07_31:232341009 A nasopharyngeal disease which involves inflammation of the nasal passages and upper part of the pharynx. DOID:11587 ICD10CM:J00 ICD10CM:J31.1 ICD9CM:472.2 MESH:D009304 NCI:C34837 SNOMEDCT_US_2016_03_01:155524006 SNOMEDCT_US_2016_03_01:47841006 SNOMEDCT_US_2016_03_01:51476001 UMLS_CUI:C0027441 UMLS_CUI:C0155826 chronic nasopharyngitis disease_ontology DOID:10460 nasopharyngitis A nasopharyngeal disease which involves inflammation of the nasal passages and upper part of the pharynx. url:http://medical-dictionary.thefreedictionary.com/nasopharyngitis url:http://www.merriam-webster.com/medical/nasopharyngitis ICD9CM:521.02 SNOMEDCT_US_2016_03_01:442551007 SNOMEDCT_US_2016_03_01:44828002 SNOMEDCT_US_2016_03_01:50047001 UMLS_CUI:C0266846 Compound dental caries (disorder) Dental caries extending into dentine Dentin caries, NOS disease_ontology DOID:10461 dentin caries Compound dental caries (disorder) SNOMEDCT_2005_07_31:50047001 Dental caries extending into dentine ICD9CM_2006:521.02 Dentin caries, NOS SNOMEDCT_2005_07_31:44828002 Diabetes mellitus type I [juvenile type], uncontrolled, with neurological manifestations disease_ontology DOID:10469 diabetes mellitus juvenile type, uncontrolled, with neurological manifestations true Diabetes mellitus type I [juvenile type], uncontrolled, with neurological manifestations ICD9CM_2006:250.63 DOID:1046 DOID:10663 DOID:10664 DOID:10665 DOID:12734 DOID:14128 DOID:9701 Mental disorder of mother, antepartum Mental disorder of mother, with delivery peripheral neuritis antepartum peripheral neuritis in pregnancy, with delivery peripheral neuritis postpartum postpartum edema or excessive weight gain postpartum mental disorder of mother disease_ontology DOID:1047 Mental disorder complicating pregnancy, childbirth, or the puerperium true ICD10CM:M76.5 ICD10CM:M76.50 ICD9CM:726.64 SNOMEDCT_US_2016_03_01:156662006 SNOMEDCT_US_2016_03_01:268089006 SNOMEDCT_US_2016_03_01:37785001 UMLS_CUI:C0158317 Patellar tendonitis (disorder) disease_ontology DOID:10471 patellar tendinitis Patellar tendonitis (disorder) SNOMEDCT_2005_07_31:37785001 A candidiasis that involves inflammation of the lung caused by Candida species either by hematogenous dissemination or by bronchial extension in patients with oropharyngeal candidiasis. The symptoms include fever, tachypnea, dyspnea, and chest pain. Candidiasis of lung disease_ontology DOID:10472 candidal pneumonia true A candidiasis that involves inflammation of the lung caused by Candida species either by hematogenous dissemination or by bronchial extension in patients with oropharyngeal candidiasis. The symptoms include fever, tachypnea, dyspnea, and chest pain. url:http://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/ Candidiasis of lung ICD9CM_2006:112.4 Enthesopathy of the wrist and carpus (disorder) Enthesopathy of wrist and carpus Enthesopathy of wrist and/or carpus (disorder) Wrist or carpus enthesopathy NOS (disorder) disease_ontology DOID:10473 wrist or carpus enthesopathy true Enthesopathy of the wrist and carpus (disorder) SNOMEDCT_2005_07_31:202859000 Enthesopathy of wrist and carpus ICD9CM_2006:726.4 Enthesopathy of wrist and/or carpus (disorder) SNOMEDCT_2005_07_31:33439002 Wrist or carpus enthesopathy NOS (disorder) SNOMEDCT_2005_07_31:202860005 ICD10CM:Q79.1 MESH:D003965 NCI:C98912 SNOMEDCT_US_2016_03_01:157006001 SNOMEDCT_US_2016_03_01:268351009 SNOMEDCT_US_2016_03_01:34168003 UMLS_CUI:C0011981 disease_ontology DOID:10480 diaphragmatic eventration A muscular disease that is located_in the diaphragm. ICD10CM:J98.6 ICD9CM:519.4 SNOMEDCT_US_2016_03_01:196182001 SNOMEDCT_US_2016_03_01:48475001 UMLS_CUI:C0152097 disease_ontology DOID:10481 diaphragm disease A muscular disease that is located_in the diaphragm. url:http://www.bmc.org/thoracicsurgery/diseasesandconditions-diaphragm.htm DOID:10482 DOID:11860 disease_ontology DOID:10483 hypertonic, incoordinate, or prolonged uterine contractions true ICD10CM:Q39.0 MESH:D004933 NCI:C87072 SNOMEDCT_US_2016_03_01:156947007 SNOMEDCT_US_2016_03_01:204656005 SNOMEDCT_US_2016_03_01:26179002 UMLS_CUI:C0014850 Congenital atresia of esophagus Congenital imperforate esophagus Imperforate esophagus Oesophageal atresia disease_ontology DOID:10485 esophageal atresia Congenital atresia of esophagus SNOMEDCT_2005_07_31:26179002 Congenital imperforate esophagus MTHICD9_2006:750.3 Imperforate esophagus SNOMEDCT_2005_07_31:204656005 Oesophageal atresia SNOMEDCT_2005_07_31:156947007 ICD10CM:Q41.1 MESH:D007409 NCI:C84790 UMLS_CUI:C0021828 disease_ontology DOID:10486 intestinal atresia A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel. ICD10CM:Q43.1 MESH:D006627 NCI:C34700 OMIM:142623 OMIM:600155 OMIM:600156 OMIM:606874 OMIM:606875 OMIM:608462 OMIM:611644 OMIM:613711 OMIM:613712 ORDO:388 SNOMEDCT_US_2016_03_01:156957008 SNOMEDCT_US_2016_03_01:204738000 SNOMEDCT_US_2016_03_01:204739008 SNOMEDCT_US_2016_03_01:204742002 SNOMEDCT_US_2016_03_01:204744001 SNOMEDCT_US_2016_03_01:360436002 SNOMEDCT_US_2016_03_01:367495003 SNOMEDCT_US_2016_03_01:6687001 UMLS_CUI:C0019569 Hirschsprung disease aganglionic megacolon congenital megacolon macrocolon pelvirectal achalasia total intestinal aganglionosis disease_ontology DOID:10487 Xref MGI. OMIM mapping confirmed by DO. [SN]. Hirschsprung's disease A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel. url:http://digestive.niddk.nih.gov/ddiseases/pubs/hirschsprungs_ez/ url:http://en.wikipedia.org/wiki/Hirschsprung%27s_disease url:http://www.nlm.nih.gov/medlineplus/ency/article/001140.htm url:http://www.uptodate.com/contents/congenital-aganglionic-megacolon-hirschsprung-disease aganglionic megacolon NCI2004_11_17:C34700 macrocolon SNOMEDCT_2005_07_31:204744001 pelvirectal achalasia CSP2005:0724-7702 ICD10CM:Q42.3 MESH:D001006 NCI:C84784 OMIM:207500 OMIM:301800 SNOMEDCT_US_2016_03_01:14118000 SNOMEDCT_US_2016_03_01:156956004 SNOMEDCT_US_2016_03_01:204712000 SNOMEDCT_US_2016_03_01:204731006 SNOMEDCT_US_2016_03_01:204733009 UMLS_CUI:C0003466 Congenital atresia of anus Congenital or infantile occlusion of anus Imperforate anus anal atresia disease_ontology DOID:10488 OMIM mapping confirmed by DO. [SN]. imperforate anus Congenital atresia of anus SNOMEDCT_2005_07_31:14118000 Congenital or infantile occlusion of anus MTHICD9_2006:751.2 Imperforate anus SNOMEDCT_2005_07_31:204731006 anal atresia SNOMEDCT_2005_07_31:204712000 disease_ontology DOID:10489 transient disorder of initiating or maintaining wakefulness true ICD9CM:255.4 NCI:C26691 SNOMEDCT_US_2016_03_01:154707007 SNOMEDCT_US_2016_03_01:190527008 SNOMEDCT_US_2016_03_01:267398003 SNOMEDCT_US_2016_03_01:267483004 SNOMEDCT_US_2016_03_01:386584007 SNOMEDCT_US_2016_03_01:68588005 UMLS_CUI:C0405580 Adrenal Cortical Insufficiency Corticoadrenal insufficiency disease_ontology DOID:10493 adrenal cortical hypofunction Adrenal Cortical Insufficiency NCI2004_11_17:C27150 Corticoadrenal insufficiency SNOMEDCT_2005_07_31:267483004 Syphilitic endocarditis of pulmonary valve (disorder) disease_ontology DOID:10494 pulmonary valve syphilitic endocarditis true Syphilitic endocarditis of pulmonary valve (disorder) SNOMEDCT_2005_07_31:186878002 ICD10CM:H05.11 ICD9CM:376.11 NCI:C3653 SNOMEDCT_US_2016_03_01:194008000 SNOMEDCT_US_2016_03_01:72776003 UMLS_CUI:C0155262 disease_ontology DOID:10499 orbital granuloma disease_ontology DOID:10501 menopausal and postmenopausal disorder true DOID:10504 generalized nonconvulsive epilepsy with intractable epilepsy disease_ontology DOID:10505 generalized nonconvulsive epilepsy disease true A pericarditis characterized by inflammation, occurring after injury, located_in pericardium. ICD10CM:I24.1 ICD9CM:411.0 SNOMEDCT_US_2016_03_01:66189004 UMLS_CUI:C0152107 Dressler syndrome Postmyocardial infarction syndrome Postmyocardial infarction syndrome (disorder) disease_ontology DOID:10507 Dressler's syndrome A pericarditis characterized by inflammation, occurring after injury, located_in pericardium. url:http://en.wikipedia.org/wiki/Dressler%27s_syndrome url:http://www.mayoclinic.org/diseases-conditions/dresslers-syndrome/basics/definition/con-20026307 Postmyocardial infarction syndrome ICD9CM_2006:411.0 Postmyocardial infarction syndrome (disorder) SNOMEDCT_2005_07_31:66189004 A primary Bacillaceae infectious disease involving Bacillus anthracis infection resulting in pulmonary infiltrates and necrosis. Anthrax pneumonia (disorder) Pneumonia in anthrax Woolsorters' pneumonia disease_ontology DOID:10508 Bacillus anthracis pneumonia true A primary Bacillaceae infectious disease involving Bacillus anthracis infection resulting in pulmonary infiltrates and necrosis. url:http://www.cdc.gov/ncidod/EID/vol7no6/jernigan.htm url:http://www.ncbi.nlm.nih.gov/pubmed/8460135 Anthrax pneumonia (disorder) SNOMEDCT_2005_07_31:195902009 Pneumonia in anthrax ICD9CM_2006:484.5 Woolsorters' pneumonia SNOMEDCT_2005_07_31:11389007 A viral infectious disease that results_in inflammation located_in lung, has_material_basis_in Influenza A virus, has_material_basis_in Influenza B virus, or has_material_basis_in Influenza C virus, which can directly damage the respiratory epithelium, allowing free access to invading bacteria. The mucous membranes are covered with foamy, bloody fluid from the pulmonary edema in the more acute cases. Interstitial fibrosis has been observed. The infection has_symptom cough, has_symptom pain in the chest and throughout body, has_symptom headache, has_symptom weakness, and has_symptom chills. influenza pneumonia influenzal pneumonia disease_ontology DOID:10510 influenza virus pneumonia true A viral infectious disease that results_in inflammation located_in lung, has_material_basis_in Influenza A virus, has_material_basis_in Influenza B virus, or has_material_basis_in Influenza C virus, which can directly damage the respiratory epithelium, allowing free access to invading bacteria. The mucous membranes are covered with foamy, bloody fluid from the pulmonary edema in the more acute cases. Interstitial fibrosis has been observed. The infection has_symptom cough, has_symptom pain in the chest and throughout body, has_symptom headache, has_symptom weakness, and has_symptom chills. url:http://chestjournal.chestpubs.org/content/119/6/1717.full.pdf+html url:http://en.wikipedia.org/wiki/Pneumonia An otitis externa which involves infection of the external ear that has spread to involve the skull bone containing part of the ear canal, the middle ear, and the inner ear. It is caused by the bacteria Pseudomonas. This is common in people with weakened immune systems and in older people with diabetes. ICD10CM:H60.2 ICD10CM:H60.20 ICD9CM:380.14 SNOMEDCT_US_2016_03_01:194206006 SNOMEDCT_US_2016_03_01:94146005 UMLS_CUI:C0155395 disease_ontology DOID:10516 malignant otitis externa An otitis externa which involves infection of the external ear that has spread to involve the skull bone containing part of the ear canal, the middle ear, and the inner ear. It is caused by the bacteria Pseudomonas. This is common in people with weakened immune systems and in older people with diabetes. url:http://www.merck.com/mmhe/sec19/ch219/ch219c.html url:http://www.nlm.nih.gov/medlineplus/ency/article/000672.htm An otitis externa which is a microbial infection that occurs suddenly, rapidly worsens, and becomes very painful and alarming. It is caused by swimming in polluted water, scratching the ear or inside the ear and object stuck in the ear. It is occasionally associated with middle ear infection or upper respiratory infections such as colds. ICD9CM:380.12 SNOMEDCT_US_2016_03_01:194201001 SNOMEDCT_US_2016_03_01:30250000 SNOMEDCT_US_2016_03_01:39149004 UMLS_CUI:C0155393 Tank ear acute bacterial inflammation of external ear (disorder) acute otitis externa, diffuse acute swimmer's ear acute swimmer's ear (disorder) acute swimmers' ear disease_ontology DOID:10518 beach ear An otitis externa which is a microbial infection that occurs suddenly, rapidly worsens, and becomes very painful and alarming. It is caused by swimming in polluted water, scratching the ear or inside the ear and object stuck in the ear. It is occasionally associated with middle ear infection or upper respiratory infections such as colds. url:http://en.wikipedia.org/wiki/Otitis_externa url:http://www.nlm.nih.gov/medlineplus/ency/article/000622.htm Tank ear MTHICD9_2006:380.12 acute bacterial inflammation of external ear (disorder) SNOMEDCT_2005_07_31:39149004 acute otitis externa, diffuse MTHICD9_2006:380.10 acute swimmer's ear SNOMEDCT_2005_07_31:30250000 acute swimmer's ear (disorder) SNOMEDCT_2005_07_31:194201001 acute swimmers' ear ICD9CM_2006:380.12 A otomycosis which is persistent and long-lasting or recurrent. ICD9CM:380.15 SNOMEDCT_US_2016_03_01:111898002 SNOMEDCT_US_2016_03_01:194209004 UMLS_CUI:C0155396 chronic mycotic otitis externa chronic mycotic otitis externa (disorder) chronic mycotic otitis externa NOS (disorder) disease_ontology DOID:10519 chronic fungal otitis externa A otomycosis which is persistent and long-lasting or recurrent. url:http://www.scielo.br/pdf/bjorl/v75n3/v75n3a10.pdf chronic mycotic otitis externa ICD9CM_2006:380.15 chronic mycotic otitis externa (disorder) SNOMEDCT_2005_07_31:111898002 chronic mycotic otitis externa NOS (disorder) SNOMEDCT_2005_07_31:194209004 An otitis externa which involves bacterial infections often related to underlying comorbidities as well as trauma. Common sources of trauma include ear piercing, boxing, blunt trauma, burns, bite wounds and iatrogenic insults. The common bacterial pathogens are staphylococcal and streptococcal species. ICD9CM:380.11 SNOMEDCT_US_2016_03_01:56663002 UMLS_CUI:C0155392 acute infection of pinna (disorder) disease_ontology DOID:10520 acute infection of pinna An otitis externa which involves bacterial infections often related to underlying comorbidities as well as trauma. Common sources of trauma include ear piercing, boxing, blunt trauma, burns, bite wounds and iatrogenic insults. The common bacterial pathogens are staphylococcal and streptococcal species. url:http://books.google.com/books?id=kggm5ighzbUC&pg=PA462&lpg#v=onepage&q=&f=false acute infection of pinna (disorder) SNOMEDCT_2005_07_31:56663002 Unspecified disorder of pinna (disorder) disorder of pinna (disorder) disorder of pinna, unspecified disease_ontology DOID:10521 pinna disease true Unspecified disorder of pinna (disorder) SNOMEDCT_2005_07_31:194226005 disorder of pinna (disorder) SNOMEDCT_2005_07_31:41663005 disorder of pinna, unspecified ICD9CM_2006:380.30 ICD9CM:372.44 SNOMEDCT_US_2016_03_01:193883003 SNOMEDCT_US_2016_03_01:41564009 UMLS_CUI:C0155157 disease_ontology DOID:10525 double pterygium Web eye disease_ontology DOID:10526 conjunctival pterygium Web eye SNOMEDCT_2005_07_31:77489003 A Haemophilus influenzae infectious disease that is caused by the strains of Haemophilus influenzae resulting in pleural effusions. This disease occurs in individuals with disorders that impaired the normal defense mechanisms and with pre-existing lung disease. H. influenzae causes bronchopneumonia making the patients wheezy and progressively more breathless. Haemophilus influenzae pneumonia (disorder) Pneumonia due to H. influenzae Pneumonia due to Hemophilus influenzae [H. influenzae] pneumonia due to hemophilus influenzae disease_ontology DOID:10527 Haemophilus influenzae pneumonia true A Haemophilus influenzae infectious disease that is caused by the strains of Haemophilus influenzae resulting in pleural effusions. This disease occurs in individuals with disorders that impaired the normal defense mechanisms and with pre-existing lung disease. H. influenzae causes bronchopneumonia making the patients wheezy and progressively more breathless. url:http://books.google.com/books?id=Bv68Qo6apvQC&pg=PA633&lpg#v=onepage&q=&f=false url:http://pedbase.org/p/pneumonia_haemophilus-influenzae-pneumonia/ url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1788861/pdf/brmedj02208-0016.pdf Haemophilus influenzae pneumonia (disorder) SNOMEDCT_2005_07_31:70036007 Pneumonia due to H. influenzae MTHICD9_2006:482.2 Pneumonia due to Hemophilus influenzae [H. influenzae] ICD9CM_2006:482.2 HEMOPHILUS INFLUENZA INFECTION Haemophilus influenzae [h influenzae] as the cause of disease classified to other chapters Haemophilus influenzae [h influenzae] as the cause of disease classified to other chapters (disorder) Haemophilus influenzae infection (disorder) Haemophilus influenzae infection, unspecified (disorder) Hemophilus Influenza Infection disease_ontology DOID:10528 Haemophilus influenzae infectious disease true HEMOPHILUS INFLUENZA INFECTION MTH:NOCODE Haemophilus influenzae [h influenzae] as the cause of disease classified to other chapters SNOMEDCT_2005_07_31:186452000 Haemophilus influenzae [h influenzae] as the cause of disease classified to other chapters (disorder) SNOMEDCT_2005_07_31:187579008 Haemophilus influenzae infection (disorder) SNOMEDCT_2005_07_31:91428005 Haemophilus influenzae infection, unspecified (disorder) SNOMEDCT_2005_07_31:187344007 Hemophilus Influenza Infection NCI2004_11_17:C34655 Haemophilus infection (disorder) Hemophilus Infection disease_ontology DOID:10529 primary Haemophilus infectious disease true Haemophilus infection (disorder) SNOMEDCT_2005_07_31:41659003 Hemophilus Infection NCI2004_11_17:C34654 DOID:1052 DOID:11114 DOID:11311 DOID:12032 DOID:12370 DOID:13332 DOID:13797 DOID:1710 Developmental dislocation of ankle and foot joint Developmental dislocation of forearm joint Developmental dislocation of hand joint Developmental dislocation of joint of multiple sites Developmental dislocation of joint of pelvic region and thigh Developmental dislocation of joint of shoulder region Developmental dislocation of lower leg joint Developmental dislocation of upper arm joint disease_ontology DOID:1053 developmental dislocation of joint true A pneumococcal infectious disease that involves infection by the bacterium Streptococcus pneumoniae, also known as pneumococcus. In adults, pneumococcal pneumonia is often characterized by sudden onset of illness with symptoms including shaking chills, fever, shortness of breath or rapid breathing, pain in the chest that is worsened by breathing deeply, and a productive cough. In infants and young children, signs and symptoms may not be specific, and may include fever, cough, rapid breathing or grunting. Chest infection - pneumococcal pneumonia Lobar -pneumococcal -pneumonia Lobar pneumonia (disorder) Pneumococcal lobar pneumonia (disorder) Pneumococcal pneumonia (disorder) Pneumococcal pneumonia (disorder) [Ambiguous] Pneumococcal pneumonia [Streptococcus pneumoniae pneumonia] Streptococcus pneumoniae pneumonia disease_ontology DOID:10531 pneumococcal pneumonia true A pneumococcal infectious disease that involves infection by the bacterium Streptococcus pneumoniae, also known as pneumococcus. In adults, pneumococcal pneumonia is often characterized by sudden onset of illness with symptoms including shaking chills, fever, shortness of breath or rapid breathing, pain in the chest that is worsened by breathing deeply, and a productive cough. In infants and young children, signs and symptoms may not be specific, and may include fever, cough, rapid breathing or grunting. url:http://www.cdc.gov/vaccines/vpd-vac/pneumo/dis-faqs.htm Chest infection - pneumococcal pneumonia SNOMEDCT_2005_07_31:195884006 Lobar -pneumococcal -pneumonia SNOMEDCT_2005_07_31:155550005 Lobar -pneumococcal -pneumonia SNOMEDCT_2005_07_31:266392005 Lobar pneumonia (disorder) SNOMEDCT_2005_07_31:278516003 Pneumococcal lobar pneumonia (disorder) SNOMEDCT_2005_07_31:266350000 Pneumococcal pneumonia (disorder) SNOMEDCT_2005_07_31:233607000 Pneumococcal pneumonia (disorder) [Ambiguous] SNOMEDCT_2005_07_31:54339004 Pneumococcal pneumonia [Streptococcus pneumoniae pneumonia] ICD9CM_2006:481 Streptococcus pneumoniae pneumonia MTHICD9_2006:481 A bacterial pneumonia caused due to the infection by Gram-positive bacteria of genus Streptococcus which are the most common cause of community-acquired pneumonias. disease_ontology DOID:10532 streptococcal pneumonia true A bacterial pneumonia caused due to the infection by Gram-positive bacteria of genus Streptococcus which are the most common cause of community-acquired pneumonias. url:http://en.wikipedia.org/wiki/Streptococcus A pneumonia described as an inflammatory illness of the lung commonly caused by viruses such as influenza virus, parainfluenza, adenovirus, rhinovirus, herpes simplex virus, respiratory syncytial virus, hantavirus, and cytomegalovirus. DOID:13167 ICD10CM:J12.9 ICD9CM:480 ICD9CM:480.9 MESH:D011024 SNOMEDCT_US_2016_03_01:155549005 SNOMEDCT_US_2016_03_01:195880002 SNOMEDCT_US_2016_03_01:195883000 SNOMEDCT_US_2016_03_01:75570004 UMLS_CUI:C0032310 disease_ontology DOID:10533 viral pneumonia A pneumonia described as an inflammatory illness of the lung commonly caused by viruses such as influenza virus, parainfluenza, adenovirus, rhinovirus, herpes simplex virus, respiratory syncytial virus, hantavirus, and cytomegalovirus. url:http://en.wikipedia.org/wiki/Pneumonia A gastrointestinal system cancer that is located_in the stomach. DOID:10539 DOID:10542 DOID:10543 DOID:4713 ICD10CM:C16 ICD10CM:C16.2 ICD10CM:C16.5 ICD10CM:C16.6 ICD10CM:C16.9 ICD9CM:151 ICD9CM:151.4 ICD9CM:151.5 ICD9CM:151.6 ICD9CM:151.9 MESH:D013274 NCI:C3387 NCI:C9331 OMIM:137215 OMIM:613659 SNOMEDCT_US_2016_03_01:126824007 SNOMEDCT_US_2016_03_01:154450001 SNOMEDCT_US_2016_03_01:154451002 SNOMEDCT_US_2016_03_01:154452009 SNOMEDCT_US_2016_03_01:154453004 SNOMEDCT_US_2016_03_01:187731004 SNOMEDCT_US_2016_03_01:187742008 SNOMEDCT_US_2016_03_01:187743003 SNOMEDCT_US_2016_03_01:187744009 SNOMEDCT_US_2016_03_01:187750004 SNOMEDCT_US_2016_03_01:255080008 SNOMEDCT_US_2016_03_01:269458007 SNOMEDCT_US_2016_03_01:269459004 SNOMEDCT_US_2016_03_01:269460009 SNOMEDCT_US_2016_03_01:269529007 SNOMEDCT_US_2016_03_01:269530002 SNOMEDCT_US_2016_03_01:269531003 SNOMEDCT_US_2016_03_01:269532005 SNOMEDCT_US_2016_03_01:363349007 SNOMEDCT_US_2016_03_01:93717002 SNOMEDCT_US_2016_03_01:93818001 SNOMEDCT_US_2016_03_01:93867004 SNOMEDCT_US_2016_03_01:94074003 UMLS_CUI:C0024623 UMLS_CUI:C0038356 UMLS_CUI:C0153421 UMLS_CUI:C0153422 UMLS_CUI:C0153423 Ca body - stomach Ca lesser curvature - stomach (disorder) ca greater curvature of stomach gastric cancer gastric neoplasm malignant neoplasm of body of stomach malignant neoplasm of lesser curve of stomach unspecified (disorder) malignant tumor of body of stomach (disorder) malignant tumor of greater curve of stomach (disorder) malignant tumor of lesser curve of stomach (disorder) disease_ontology DOID:10534 OMIM mapping confirmed by DO. [SN]. stomach cancer A gastrointestinal system cancer that is located_in the stomach. url:http://cancergenome.nih.gov/cancersselected/stomach-esophagealcancer url:http://en.wikipedia.org/wiki/Stomach Ca body - stomach SNOMEDCT_2005_07_31:154450001 Ca lesser curvature - stomach (disorder) SNOMEDCT_2005_07_31:269530002 gastric neoplasm CSP2005:2010-1611 NCI2004_11_17:C3387 SNOMEDCT_2005_07_31:187731004 malignant neoplasm of lesser curve of stomach unspecified (disorder) SNOMEDCT_2005_07_31:187743003 malignant tumor of body of stomach (disorder) SNOMEDCT_2005_07_31:187742008 malignant tumor of greater curve of stomach (disorder) SNOMEDCT_2005_07_31:269460009 malignant tumor of lesser curve of stomach (disorder) SNOMEDCT_2005_07_31:269459004 A coxsackie carditis that results_in inflammation located_in myocardium, has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom lethargy, has_symptom heart failure, has_symptom pallor, has_symptom cyanosis, has_symptom dyspnea, has_symptom tachycardia, and has_symptom enlargement of heart. disease_ontology DOID:10535 coxsackie myocarditis true A coxsackie carditis that results_in inflammation located_in myocardium, has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom lethargy, has_symptom heart failure, has_symptom pallor, has_symptom cyanosis, has_symptom dyspnea, has_symptom tachycardia, and has_symptom enlargement of heart. url:http://ccdm.unboundmedicine.com/ccdm/ub/view/Communicable-Diseases/460229/all/coxsackievirus_carditis_ NCI:C5484 UMLS_CUI:C1334585 malignant granular cell tumor of stomach disease_ontology DOID:10536 malignant gastric granular cell tumor malignant granular cell tumor of stomach NCI2004_11_17:C5484 disease_ontology DOID:10537 recurrent malignant gastric neoplasm true ICD10CM:C16.1 ICD9CM:151.3 SNOMEDCT_US_2016_03_01:154449001 SNOMEDCT_US_2016_03_01:187741001 SNOMEDCT_US_2016_03_01:269528004 SNOMEDCT_US_2016_03_01:93809003 UMLS_CUI:C0153420 Ca fundus - stomach Ca fundus - stomach (disorder) malignant neoplasm of fundus of stomach malignant tumor of fundus of stomach (disorder) disease_ontology DOID:10538 gastric fundus cancer Ca fundus - stomach SNOMEDCT_2005_07_31:154449001 Ca fundus - stomach (disorder) SNOMEDCT_2005_07_31:269528004 malignant neoplasm of fundus of stomach ICD9CM_2006:151.3 malignant neoplasm of fundus of stomach SNOMEDCT_2005_07_31:93809003 malignant tumor of fundus of stomach (disorder) SNOMEDCT_2005_07_31:187741001 Glaucoma associated with chamber angle anomalies (disorder) disease_ontology DOID:1054 glaucoma associated with chamber angle anomalies true Glaucoma associated with chamber angle anomalies (disorder) SNOMEDCT_2005_07_31:19039006 MESH:C535648 NCI:C4636 SNOMEDCT_US_2016_03_01:276811008 UMLS_CUI:C0349532 Lymphoma of the stomach disease_ontology DOID:10540 gastric lymphoma Lymphoma of the stomach NCI2004_11_17:C4636 NCI:C27131 SNOMEDCT_US_2016_03_01:276809004 UMLS_CUI:C0349530 Surface gastric cancer early gastric cancer (disorder) disease_ontology DOID:10541 microinvasive gastric cancer Surface gastric cancer NCI2004_11_17:C27131 early gastric cancer (disorder) SNOMEDCT_2005_07_31:276809004 ICD10CM:C16.4 ICD9CM:151.1 SNOMEDCT_US_2016_03_01:154448009 SNOMEDCT_US_2016_03_01:187736009 SNOMEDCT_US_2016_03_01:187739002 SNOMEDCT_US_2016_03_01:269527009 UMLS_CUI:C0153418 Ca pylorus - stomach Ca pylorus - stomach (disorder) malignant neoplasm of Prepylorus malignant neoplasm of pylorus of stomach NOS (disorder) malignant tumor of pylorus (disorder) disease_ontology DOID:10544 pylorus cancer Ca pylorus - stomach SNOMEDCT_2005_07_31:154448009 Ca pylorus - stomach (disorder) SNOMEDCT_2005_07_31:269527009 malignant neoplasm of Prepylorus MTHICD9_2006:151.1 malignant neoplasm of pylorus of stomach NOS (disorder) SNOMEDCT_2005_07_31:187739002 malignant tumor of pylorus (disorder) SNOMEDCT_2005_07_31:187736009 An Enterovirus infectious disease that results_in infection, has_material_basis_in group A coxsackievirus or has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom paralysis, has_symptom myositis, and has_symptom degeneration of neuronal tissue. DOID:10546 disease_ontology DOID:10545 coxsackievirus infectious disease true An Enterovirus infectious disease that results_in infection, has_material_basis_in group A coxsackievirus or has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom paralysis, has_symptom myositis, and has_symptom degeneration of neuronal tissue. url:http://en.wikipedia.org/wiki/Coxsackievirus ICD10CM:C16.3 ICD9CM:151.2 SNOMEDCT_US_2016_03_01:187740000 SNOMEDCT_US_2016_03_01:93976007 UMLS_CUI:C0153419 malignant neoplasm of antrum of stomach NOS malignant tumor of pyloric antrum (disorder) disease_ontology DOID:10547 pyloric antrum cancer malignant neoplasm of antrum of stomach NOS MTHICD9_2006:151.2 malignant tumor of pyloric antrum (disorder) SNOMEDCT_2005_07_31:187740000 ICD10CM:C16.0 ICD9CM:151.0 SNOMEDCT_US_2016_03_01:154447004 SNOMEDCT_US_2016_03_01:187732006 SNOMEDCT_US_2016_03_01:187735008 SNOMEDCT_US_2016_03_01:269526000 SNOMEDCT_US_2016_03_01:93738008 UMLS_CUI:C0153417 Ca cardia - stomach malignant neoplasm of cardia of stomach disease_ontology DOID:10548 cardia cancer Ca cardia - stomach SNOMEDCT_2005_07_31:154447004 malignant neoplasm of cardia of stomach SNOMEDCT_2005_07_31:93738008 Diabetes mellitus juvenile type, not stated as uncontrolled, with ophthalmic manifestations Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with ophthalmic manifestations disease_ontology DOID:10549 diabetes mellitus insulin dependent type, not stated as uncontrolled, with ophthalmic manifestations true Diabetes mellitus juvenile type, not stated as uncontrolled, with ophthalmic manifestations MTHICD9_2006:250.51 Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with ophthalmic manifestations ICD9CM_2006:250.51 Glaucoma associated with congenital anomalies, dystrophies, and systemic syndromes disease_ontology DOID:1055 glaucoma associated with congenital anomalies, dystrophies and systemic syndromes true Glaucoma associated with congenital anomalies, dystrophies, and systemic syndromes ICD9CM_2006:365.4 A otosalpingitis with a sudden onset and a short course. ICD10CM:H68.01 ICD10CM:H68.019 ICD9CM:381.51 SNOMEDCT_US_2016_03_01:13043002 SNOMEDCT_US_2016_03_01:194268005 UMLS_CUI:C0155429 acute eustachian tube salpingitis disease_ontology DOID:10550 acute eustachian salpingitis A otosalpingitis with a sudden onset and a short course. url:http://books.google.com/books?id=Z_z1R9SO8iMC&pg=PA258#v=onepage&q=&f=false acute eustachian tube salpingitis SNOMEDCT_2005_07_31:194268005 A toxoplasmosis that occurs in patients with AIDS or weakened immune system, who develop the infection due to reactivation, present with ring-enhancing intracranial mass lesions or encephalitis. The symptoms include headache, altered mental status, seizures, coma, fever, motor or sensory loss, cranial nerve palsies, visual abnormalities, and focal seizures. Encephalitis due to acquired toxoplasmosis Meningoencephalitis due to acquired toxoplasmosis (disorder) Meningoencephalitis due to toxoplasmosis Toxoplasma encephalitis Toxoplasma encephalitis (disorder) disease_ontology DOID:10551 cerebral toxoplasmosis true A toxoplasmosis that occurs in patients with AIDS or weakened immune system, who develop the infection due to reactivation, present with ring-enhancing intracranial mass lesions or encephalitis. The symptoms include headache, altered mental status, seizures, coma, fever, motor or sensory loss, cranial nerve palsies, visual abnormalities, and focal seizures. url:http://www.merck.com/mmpe/sec14/ch186/ch186h.html?qt=toxoplasmosis&alt=sh Encephalitis due to acquired toxoplasmosis MTHICD9_2006:130.0 Meningoencephalitis due to acquired toxoplasmosis (disorder) SNOMEDCT_2005_07_31:17949000 Meningoencephalitis due to toxoplasmosis ICD9CM_2006:130.0 Toxoplasma encephalitis SNOMEDCT_2005_07_31:187193005 Toxoplasma encephalitis (disorder) SNOMEDCT_2005_07_31:192701001 A central nervous system disease that involves encephalitis which occurs along with meningitis. ICD10CM:A69.22 ICD10CM:G04 MESH:D008590 NCI:C34813 SNOMEDCT_US_2016_03_01:7125002 UMLS_CUI:C0025309 Meningoencephalitis (disorder) disease_ontology DOID:10554 meningoencephalitis A central nervous system disease that involves encephalitis which occurs along with meningitis. url:http://en.wikipedia.org/wiki/Encephalitis Meningoencephalitis (disorder) SNOMEDCT_2005_07_31:7125002 A vascular disease that is characterized by severe supine hypotension in late pregnancy, whose clinical presentation ranges from minimal cardiovascular alterations to severe shock, resulting from inferior vena cava compression by gravid uterus. DOID:10555 DOID:12413 ICD9CM:669.20 UMLS_CUI:C0157456 antepartum maternal hypotension syndrome postpartum maternal hypotension syndrome disease_ontology DOID:10556 supine hypotensive syndrome A vascular disease that is characterized by severe supine hypotension in late pregnancy, whose clinical presentation ranges from minimal cardiovascular alterations to severe shock, resulting from inferior vena cava compression by gravid uterus. url:http://www.ncbi.nlm.nih.gov/pubmed/22537582 url:http://www.ncbi.nlm.nih.gov/pubmed/8164943 disease_ontology DOID:10557 maternal distress true ICD10CM:E72.03 MESH:D009800 NCI:C84940 OMIM:309000 SNOMEDCT_US_2016_03_01:79385002 UMLS_CUI:C0028860 Lowe syndrome lowe oculocerebrorenal syndrome oculocerebrorenal syndrome of Lowe disease_ontology DOID:1056 OMIM mapping confirmed by DO. [SN]. oculocerebrorenal syndrome Lowe syndrome SNOMEDCT_2005_07_31:79385002 oculocerebrorenal syndrome of Lowe CSP2005:1849-1861 hyperkeratosis due to yaws hyperkeratosis of yaws (disorder) disease_ontology DOID:10561 yaws hyperkeratosis true hyperkeratosis due to yaws ICD9CM_2006:102.3 hyperkeratosis due to yaws SNOMEDCT_2005_07_31:186967009 hyperkeratosis of yaws (disorder) SNOMEDCT_2005_07_31:53734002 A late yaws that involves destruction of the bone and cartilage of the nose. This is caused by the spirochete bacterium, Treponema pallidum pertenue. Gangosa Gangosa of yaws (disorder) Rhinopharyngitis mutilans disease_ontology DOID:10564 gangosa of yaws true A late yaws that involves destruction of the bone and cartilage of the nose. This is caused by the spirochete bacterium, Treponema pallidum pertenue. url:http://en.wikipedia.org/wiki/Yaws Gangosa ICD9CM_2006:102.5 Gangosa of yaws (disorder) SNOMEDCT_2005_07_31:24078009 Rhinopharyngitis mutilans MTHICD9_2006:102.5 A yaws that appears after five years of the initial infection and is characterized by disabling consequences of the nose, bones and palmar/plantar hyperkeratosis. DOID:10370 DOID:10562 ICD10CM:A66.1 ICD10CM:A66.4 ICD9CM:102.1 ICD9CM:102.4 NCI:C41354 SNOMEDCT_US_2016_03_01:186968004 SNOMEDCT_US_2016_03_01:22071004 SNOMEDCT_US_2016_03_01:57186002 SNOMEDCT_US_2016_03_01:68556002 SNOMEDCT_US_2016_03_01:69008006 UMLS_CUI:C0153234 UMLS_CUI:C0276007 UMLS_CUI:C1517744 Gummata and ulcers due to yaws Gummata of yaws Ulcers of yaws Yaws gummata and ulcers (disorder) gummatous frambeside multiple papillomata due to yaws and wet crab yaws nodular late yaws nodular late yaws (disorder) disease_ontology DOID:10567 late yaws A yaws that appears after five years of the initial infection and is characterized by disabling consequences of the nose, bones and palmar/plantar hyperkeratosis. url:http://www.who.int/mediacentre/factsheets/fs316/en/ Gummata and ulcers due to yaws ICD9CM_2006:102.4 Gummata of yaws SNOMEDCT_2005_07_31:22071004 Ulcers of yaws SNOMEDCT_2005_07_31:57186002 Yaws gummata and ulcers (disorder) SNOMEDCT_2005_07_31:186968004 nodular late yaws MTHICD9_2006:102.4 nodular late yaws (disorder) SNOMEDCT_2005_07_31:69008006 A yaws that results in initial papule at the site of entry of bacteria. Without treatment, this is followed by disseminated skin lesions over the body. Bone pain and bone lesions may also occur. DOID:10563 DOID:10565 ICD10CM:A66.0 ICD10CM:A66.6 ICD9CM:102.0 ICD9CM:102.6 NCI:C41352 SNOMEDCT_US_2016_03_01:186969007 SNOMEDCT_US_2016_03_01:23191004 SNOMEDCT_US_2016_03_01:266147005 SNOMEDCT_US_2016_03_01:30283007 SNOMEDCT_US_2016_03_01:49442000 SNOMEDCT_US_2016_03_01:59227007 SNOMEDCT_US_2016_03_01:77912009 UMLS_CUI:C0275990 UMLS_CUI:C0275998 UMLS_CUI:C0343834 Frambesia, initial or primary Initial frambesial ulcer Initial lesions of yaws bone and joint lesions due to yaws bone and joint yaws lesion chancre of yaws primary frambesia disease_ontology DOID:10568 early yaws A yaws that results in initial papule at the site of entry of bacteria. Without treatment, this is followed by disseminated skin lesions over the body. Bone pain and bone lesions may also occur. url:http://www.who.int/mediacentre/factsheets/fs316/en/ Frambesia, initial or primary MTHICD9_2006:102.0 Initial frambesial ulcer SNOMEDCT_2005_07_31:30283007 Initial lesions of yaws ICD9CM_2006:102.0 bone and joint lesions due to yaws ICD9CM_2006:102.6 primary frambesia SNOMEDCT_2005_07_31:77912009 Critical illness myopathy disease_ontology DOID:10569 myopathy of critical illness true Critical illness myopathy ICD9CM_2006:359.81 disease_ontology DOID:1057 inborn amino acid transport disorder true A bone remodeling disease that has_material_basis_in a vitamin D deficiency which results_in softening located_in bone. ICD9CM:268.2 NCI:C26838 SNOMEDCT_US_2016_03_01:154728003 SNOMEDCT_US_2016_03_01:190639009 SNOMEDCT_US_2016_03_01:190642003 SNOMEDCT_US_2016_03_01:4598005 UMLS_CUI:C0029442 disease_ontology DOID:10573 osteomalacia A bone remodeling disease that has_material_basis_in a vitamin D deficiency which results_in softening located_in bone. url:http://en.wikipedia.org/wiki/Osteomalacia url:http://my.clevelandclinic.org/disorders/osteomalacia/hic_osteomalacia.aspx url:http://www.mayoclinic.com/health/osteomalacia/DS00935 url:http://www.nlm.nih.gov/medlineplus/ency/article/000376.htm url:http://www.umm.edu/ency/article/000376.htm url:http://www.wheelessonline.com/ortho/osteomalacia Avitaminosis D Avitaminosis D NOS (disorder) Unspecified vitamin D deficiency deficiency of vitamin D (disorder) vitamin D deficiency vitamin D deficiency (disorder) disease_ontology DOID:10574 vitamin D deficiency true Avitaminosis D MTHICD9_2006:268.9 Avitaminosis D NOS (disorder) SNOMEDCT_2005_07_31:190649007 Unspecified vitamin D deficiency ICD9CM_2006:268.9 deficiency of vitamin D (disorder) SNOMEDCT_2005_07_31:124886009 vitamin D deficiency CSP2005:2116-7610 vitamin D deficiency ICD9CM_2006:268 vitamin D deficiency SNOMEDCT_2005_07_31:154728003 vitamin D deficiency SNOMEDCT_2005_07_31:190639009 vitamin D deficiency (disorder) SNOMEDCT_2005_07_31:34713006 ICD10CM:E83.5 ICD10CM:E83.50 ICD9CM:275.4 ICD9CM:275.40 MESH:D002128 SNOMEDCT_US_2016_03_01:190863003 SNOMEDCT_US_2016_03_01:190874007 SNOMEDCT_US_2016_03_01:267442002 SNOMEDCT_US_2016_03_01:71638002 UMLS_CUI:C0006705 disease_ontology DOID:10575 calcium metabolism disease A cerebral degeneration characterized by dysfunction of the white matter of the brain. ICD9CM:330.0 NCI:C61253 SNOMEDCT_US_2016_03_01:192781003 SNOMEDCT_US_2016_03_01:192785007 SNOMEDCT_US_2016_03_01:5101009 UMLS_CUI:C0023520 disease_ontology DOID:10579 leukodystrophy A cerebral degeneration characterized by dysfunction of the white matter of the brain. url:http://en.wikipedia.org/wiki/Leukodystrophy Disturbances of amino-acid transport disease_ontology DOID:1058 amino acid transport disease true Disturbances of amino-acid transport ICD9CM_2006:270.0 A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system. ICD10CM:E75.25 ICD10CM:E75.29 MESH:D007966 NCI:C61251 OMIM:249900 OMIM:250100 ORDO:512 SNOMEDCT_US_2016_03_01:192784006 SNOMEDCT_US_2016_03_01:3621006 SNOMEDCT_US_2016_03_01:396338004 SNOMEDCT_US_2016_03_01:44359008 UMLS_CUI:C0023522 MLD Scholz cerebral sclerosis arylsulfatase A deficiency deficiency of cerebroside-sulfatase sulfatide lipoidosis disease_ontology DOID:10581 Xref MGI. OMIM mapping confirmed by DO. [SN]. metachromatic leukodystrophy A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system. url:http://en.wikipedia.org/wiki/Metachromatic_leukodystrophy url:http://ghr.nlm.nih.gov/condition/metachromatic-leukodystrophy Scholz cerebral sclerosis SNOMEDCT_2005_07_31:44359008 sulfatide lipoidosis CSP2005:1849-5593 ICD10CM:G60.1 ICD9CM:356.3 MESH:D012035 NCI:C85043 OMIM:266500 OMIM:266510 SNOMEDCT_US_2016_03_01:25362006 UMLS_CUI:C0034960 HMSN type IV HSMN IV Heredopathia atactica polyneuritiformis Refsum's disease disease_ontology DOID:10582 OMIM mapping confirmed by DO. [SN]. Refsum disease HMSN type IV CSP2005:2042-7949 HSMN IV SNOMEDCT_2005_07_31:25362006 Heredopathia atactica polyneuritiformis MTHICD9_2006:356.3 Refsum's disease ICD9CM_2006:356.3 A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss. DOID:14742 ICD10CM:H35.52 MESH:C538365 MESH:D012174 NCI:C85045 OMIM:268000 ORDO:791 SNOMEDCT_US_2016_03_01:155113002 SNOMEDCT_US_2016_03_01:28835009 UMLS_CUI:C0035334 UMLS_CUI:C0220701 pericentral pigmentary retinopathy disease_ontology DOID:10584 Xref MGI. OMIM mapping confirmed by DO. [LS]. retinitis pigmentosa A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss. url:http://en.wikipedia.org/wiki/Retinitis_pigmentosa url:http://ghr.nlm.nih.gov/condition/retinitis-pigmentosa url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4043609/ disease_ontology DOID:10585 hereditary and idiopathic peripheral neuropathy true ICD10CM:E75.23 MESH:D007965 NCI:C61254 OMIM:245200 SNOMEDCT_US_2016_03_01:189979005 SNOMEDCT_US_2016_03_01:192782005 SNOMEDCT_US_2016_03_01:5710006 UMLS_CUI:C0023521 Diffuse globoid body sclerosis GLOBOID CELL LEUKOENCEPHALOPATHY Galactosylceramide beta-galactosidase deficiency (disorder) Krabbe's disease Krabbe's leukodystrophy beta galactocerebrosidase deficiency globoid cell leukodystrophy disease_ontology DOID:10587 OMIM mapping confirmed by DO. [SN]. Krabbe disease Diffuse globoid body sclerosis SNOMEDCT_2005_07_31:189979005 Galactosylceramide beta-galactosidase deficiency (disorder) SNOMEDCT_2005_07_31:192782005 Krabbe's disease MTHICD9_2006:330.0 Krabbe's leukodystrophy SNOMEDCT_2005_07_31:5710006 beta galactocerebrosidase deficiency CSP2005:1849-5536 A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death. DOID:13451 ICD10CM:E71.52 ICD10CM:E71.529 ICD10CM:G37.0 ICD9CM:341.1 MESH:D000326 MESH:D002549 NCI:C61252 NCI:C84670 OMIM:202370 OMIM:300100 SNOMEDCT_US_2016_03_01:155059003 SNOMEDCT_US_2016_03_01:192932009 SNOMEDCT_US_2016_03_01:267702006 SNOMEDCT_US_2016_03_01:44875002 SNOMEDCT_US_2016_03_01:49692006 SNOMEDCT_US_2016_03_01:65389002 UMLS_CUI:C0007795 UMLS_CUI:C0162309 ALD Bronze Schilder disease Encephalitis periaxialis concentrica Encephalitis periaxialis, Schilder's SUDANOPHILIC CEREBRAL SCLEROSIS Schilder disease Siemerling-Creutzfeldt Disease X-linked adrenoleukodystrophy diffuse sclerosis disease_ontology Schilder's disease diffuse cerebral sclerosis of Schilder DOID:10588 MESH:D000326w added from NeuroDevNet [WAK]. adrenoleukodystrophy A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death. url:http://en.wikipedia.org/wiki/Adrenoleukodystrophy url:http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002165/ ALD CSP2005:4001-0003 Encephalitis periaxialis concentrica SNOMEDCT_2005_07_31:44875002 Encephalitis periaxialis, Schilder's MTHICD9_2006:341.1 X-linked adrenoleukodystrophy MTHICD9_2006:277.86 diffuse sclerosis CSP2005:2042-2215 Schilder's disease SNOMEDCT_2005_07_31:155059003 A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills. NCI:C84392 SNOMEDCT_US_2016_03_01:154978008 SNOMEDCT_US_2016_03_01:154979000 SNOMEDCT_US_2016_03_01:1855002 SNOMEDCT_US_2016_03_01:192157003 SNOMEDCT_US_2016_03_01:192557008 SNOMEDCT_US_2016_03_01:268732001 SNOMEDCT_US_2016_03_01:91138005 UMLS_CUI:C0025362 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 disease_ontology mental retardation DOID:1059 OMIM mapping submitted by NeuroDevNet. [LS]. intellectual disability A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills. url:http://www.aamr.org/content_96.cfm?navID=20 url:http://www.google.com/url?sa=t&source=web&cd=9&ved=0CGEQFjAI&url=http%3A%2F%2Fwww.nichcy.org%2FDisabilities%2FSpecific%2FPages%2FIntellectualDisability.aspx&rct=j&q=%20Search%20Intellectual%20Disability%3A%20Definition%2C%20Classification%2C%20and%20Systems%20of%20Supports%20&ei=_Y7dTJ-JKoX7lweUy837DA&usg=AFQjCNHf5WD4JW8kvTc901MQ6AUr_mRPpQ&sig2=sV1yzHR9plpkHZMXYtd8iA&cad=rja url:http://www.nichcy.org/disabilities/specific/pages/intellectualdisability.aspx#WhatisID.aspx A pre-eclampsia characterized by the presence of hypertension without evidence of end-organ damage, in a woman who was normotensive before 20 weeks' gestation. ICD9CM:642.40 UMLS_CUI:C0156664 disease_ontology DOID:10590 mild pre-eclampsia A pre-eclampsia characterized by the presence of hypertension without evidence of end-organ damage, in a woman who was normotensive before 20 weeks' gestation. url:http://emedicine.medscape.com/article/1476919-overview A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy. DOID:12684 ICD10CM:O14 ICD10CM:O14.9 ICD10CM:O14.90 MESH:D011225 NCI:C34943 NCI:C85021 OMIM:189800 OMIM:609402 OMIM:609403 OMIM:609404 OMIM:614592 ORDO:275555 SNOMEDCT_US_2016_03_01:15394000 SNOMEDCT_US_2016_03_01:156106005 SNOMEDCT_US_2016_03_01:156109003 SNOMEDCT_US_2016_03_01:198972006 SNOMEDCT_US_2016_03_01:198979002 SNOMEDCT_US_2016_03_01:199011002 SNOMEDCT_US_2016_03_01:237280005 SNOMEDCT_US_2016_03_01:267306006 SNOMEDCT_US_2016_03_01:288201007 SNOMEDCT_US_2016_03_01:398254007 SNOMEDCT_US_2016_03_01:46764007 SNOMEDCT_US_2016_03_01:6758009 UMLS_CUI:C0032914 gestational hypertension hypertension induced by pregnancy pre-eclamptic toxaemia preeclampsia preeclampsia/eclampsia pregnancy associated hypertension pregnancy toxemia proteinuric hypertension of pregnancy toxaemia of pregnancy disease_ontology DOID:10591 Xref MGI. OMIM mapping confirmed by DO. [SN]. pre-eclampsia A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy. url:http://en.wikipedia.org/wiki/Pre-eclampsia url:http://ghr.nlm.nih.gov/condition/preeclampsia url:http://www.ncbi.nlm.nih.gov/pubmed/?term=24400024 gestational hypertension MTHICD9_2006:642.3 SNOMEDCT_2005_07_31:30354006 pre-eclamptic toxaemia SNOMEDCT_2005_07_31:46764007 preeclampsia CSP2005:4001-0110 pregnancy associated hypertension NCI2004_11_17:C4371 pregnancy toxemia CSP2005:2404-7447 proteinuric hypertension of pregnancy SNOMEDCT_2005_07_31:199011002 toxaemia of pregnancy SNOMEDCT_2005_07_31:156106005 ICD9CM:356.4 SNOMEDCT_US_2016_03_01:193164007 SNOMEDCT_US_2016_03_01:33209009 UMLS_CUI:C0154756 Idiopathic progressive polyneuropathy (disorder) disease_ontology DOID:10593 idiopathic progressive polyneuropathy Idiopathic progressive polyneuropathy (disorder) SNOMEDCT_2005_07_31:33209009 Unspecified idiopathic peripheral neuropathy disease_ontology DOID:10594 idiopathic neuropathy true Unspecified idiopathic peripheral neuropathy ICD9CM_2006:356.9 A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm. ICD10CM:G60.0 ICD9CM:356.1 MESH:D002607 NCI:C75467 OMIM:PS118220 SNOMEDCT_US_2016_03_01:128202008 SNOMEDCT_US_2016_03_01:193158000 SNOMEDCT_US_2016_03_01:193162006 SNOMEDCT_US_2016_03_01:50548001 UMLS_CUI:C0007959 CMT - Charcot-Marie-Tooth disease Charcot Marie Tooth muscular atrophy Peroneal muscular atrophy disease_ontology DOID:10595 Charcot-Marie-Tooth disease A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm. url:https://www.genome.gov/11009201 CMT - Charcot-Marie-Tooth disease SNOMEDCT_2005_07_31:193158000 Charcot Marie Tooth muscular atrophy CSP2005:2042-7637 Peroneal muscular atrophy ICD9CM_2006:356.1 Gonococcal meningitis (disorder) disease_ontology DOID:10597 gonococcal meningitis true Gonococcal meningitis (disorder) SNOMEDCT_2005_07_31:151004 An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac. DOID:12624 ICD10CM:A15.6 ICD9CM:010.1 ICD9CM:012.0 ICD9CM:012.00 MESH:D014396 NCI:C26898 SNOMEDCT_US_2016_03_01:170713008 SNOMEDCT_US_2016_03_01:171699006 SNOMEDCT_US_2016_03_01:186172004 SNOMEDCT_US_2016_03_01:186182003 SNOMEDCT_US_2016_03_01:186183008 SNOMEDCT_US_2016_03_01:186186000 SNOMEDCT_US_2016_03_01:36379004 SNOMEDCT_US_2016_03_01:68706009 UMLS_CUI:C0041326 UMLS_CUI:C0152531 Pearly disease Tuberculosis of pleura Tuberculous pleurisy Tuberculous pleuritis tuberculous pleurisy in primary progressive tuberculosis disease_ontology DOID:106 pleural tuberculosis An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac. url:http://www.ncbi.nlm.nih.gov/pubmed/17426219 Pearly disease SNOMEDCT_2005_07_31:170713008 Tuberculosis of pleura SNOMEDCT_2005_07_31:186183008 Tuberculous pleurisy ICD9CM_2006:012.0 Tuberculous pleuritis SNOMEDCT_2005_07_31:171699006 An amino acid metabolic disorder that iis caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum. ICD10CM:E72.02 MESH:D006250 NCI:C84748 OMIM:234500 SNOMEDCT_US_2016_03_01:124208000 SNOMEDCT_US_2016_03_01:80902009 UMLS_CUI:C0018609 Neutral 1 amino acid transport defect (disorder) deficiency of tryptophan oxygenase neutral amino acid transport defect disease_ontology DOID:1060 OMIM mapping confirmed by DO. [SN]. Hartnup disease An amino acid metabolic disorder that iis caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Hartnup Neutral 1 amino acid transport defect (disorder) SNOMEDCT_2005_07_31:80902009 deficiency of tryptophan oxygenase SNOMEDCT_2005_07_31:124208000 neutral amino acid transport defect CSP2005:1849-4235 A tic disorder that is characterized by single or multiple motor or phonic tics, but not both, which are present for more than a year. ICD10CM:F95.1 ICD9CM:307.22 MESH:D013981 NCI:C116768 SNOMEDCT_US_2016_03_01:192623005 UMLS_CUI:C0008701 chronic motor or vocal tic disorder disease_ontology DOID:10600 chronic tic disorder A tic disorder that is characterized by single or multiple motor or phonic tics, but not both, which are present for more than a year. url:http://en.wikipedia.org/wiki/Tic_disorder chronic motor or vocal tic disorder ICD9CM_2006:307.22 MESH:D045602 NCI:C86917 SNOMEDCT_US_2016_03_01:197489007 SNOMEDCT_US_2016_03_01:266481005 SNOMEDCT_US_2016_03_01:27868004 SNOMEDCT_US_2016_03_01:66187002 UMLS_CUI:C0038238 Fatty stool (finding) disease_ontology DOID:10602 steatorrhea Fatty stool (finding) SNOMEDCT_2005_07_31:66187002 ICD10CM:R73.09 MESH:D018149 NCI:C34646 SNOMEDCT_US_2016_03_01:154720005 SNOMEDCT_US_2016_03_01:190752008 SNOMEDCT_US_2016_03_01:267426009 SNOMEDCT_US_2016_03_01:9414007 UMLS_CUI:C0271650 Glucose: [intolerance] or [malabsorption] Malabsorption of glucose (disorder) disease_ontology DOID:10603 glucose intolerance Glucose: [intolerance] or [malabsorption] SNOMEDCT_2005_07_31:190752008 Malabsorption of glucose (disorder) SNOMEDCT_2005_07_31:267426009 ICD10CM:E73 ICD10CM:E73.9 MESH:D007787 NCI:C3154 OMIM:223100 SNOMEDCT_US_2016_03_01:154736007 SNOMEDCT_US_2016_03_01:190750000 SNOMEDCT_US_2016_03_01:190757002 SNOMEDCT_US_2016_03_01:267425008 SNOMEDCT_US_2016_03_01:267497007 SNOMEDCT_US_2016_03_01:700094005 UMLS_CUI:C0022951 LM - Lactose malabsorption disease_ontology DOID:10604 OMIM mapping confirmed by DO. [SN]. lactose intolerance LM - Lactose malabsorption SNOMEDCT_2005_07_31:190757002 MESH:D012778 NCI:C99059 SNOMEDCT_US_2016_03_01:204768009 SNOMEDCT_US_2016_03_01:235724004 SNOMEDCT_US_2016_03_01:26629001 UMLS_CUI:C0036992 acquired short bowel syndrome short gut syndrome disease_ontology DOID:10605 short bowel syndrome acquired short bowel syndrome SNOMEDCT_2005_07_31:235724004 short gut syndrome CSP2005:0724-8009 An intestinal disease characterized by a dysbalance of the bacterial flora of the small intestine, causing derangement to the normal physiological processes of digestion and absorption. ICD10CM:K90.2 ICD9CM:579.2 MESH:D001765 NCI:C34431 SNOMEDCT_US_2016_03_01:66379009 SNOMEDCT_US_2016_03_01:77225009 UMLS_CUI:C0005750 Bacterial overgrowth syndrome (disorder) Blind loop syndrome Blind loop syndrome (disorder) disease_ontology DOID:10606 blind loop syndrome An intestinal disease characterized by a dysbalance of the bacterial flora of the small intestine, causing derangement to the normal physiological processes of digestion and absorption. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=20572300 url:https://en.wikipedia.org/wiki/Blind_loop_syndrome Bacterial overgrowth syndrome (disorder) SNOMEDCT_2005_07_31:66379009 Blind loop syndrome ICD9CM_2006:579.2 Blind loop syndrome (disorder) SNOMEDCT_2005_07_31:77225009 ICD10CM:K90.1 ICD9CM:579.1 MESH:D013182 NCI:C45428 SNOMEDCT_US_2016_03_01:155846005 SNOMEDCT_US_2016_03_01:266547002 SNOMEDCT_US_2016_03_01:47384003 UMLS_CUI:C0038054 Sprue - tropical Tropical steatorrhea disease_ontology DOID:10607 tropical sprue Sprue - tropical SNOMEDCT_2005_07_31:266547002 Tropical steatorrhea MTHICD9_2006:579.1 An autoimmune disease of gastrointestinal tract that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite. EFO:0001060 ICD10CM:K90.0 ICD9CM:579.0 MESH:D002446 NCI:C26714 OMIM:212750 OMIM:607202 OMIM:609753 OMIM:609754 OMIM:609755 OMIM:611598 OMIM:612005 OMIM:612006 OMIM:612007 OMIM:612008 OMIM:612009 OMIM:612011 ORDO:555 SNOMEDCT_US_2016_03_01:155842007 SNOMEDCT_US_2016_03_01:197477005 SNOMEDCT_US_2016_03_01:197481005 SNOMEDCT_US_2016_03_01:23829007 SNOMEDCT_US_2016_03_01:266478000 SNOMEDCT_US_2016_03_01:396331005 UMLS_CUI:C0007570 celiac sprue coeliac disease idiopathic steatorrhea disease_ontology DOID:10608 Xref MGI. OMIM mapping confirmed by DO. [SN]. celiac disease An autoimmune disease of gastrointestinal tract that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite. url:http://digestive.niddk.nih.gov/ddiseases/pubs/celiac/ url:http://en.wikipedia.org/wiki/Coeliac_disease url:http://www.celiac.org/ url:http://www.mayoclinic.com/health/celiac-disease/DS00319 url:http://www.nlm.nih.gov/medlineplus/ency/article/000233.htm celiac sprue CSP2005:1248-3893 coeliac disease SNOMEDCT_2005_07_31:155842007 idiopathic steatorrhea MTHICD9_2006:579.0 A bone remodeling disease that has_material_basis_in impaired mineralization or calcification of bones before epiphyseal closure due to deficiency or impaired metabolism of vitamin D, phosphorus or calcium which results_in softening and deformity located_in bone. DOID:11672 ICD10CM:E55.0 ICD9CM:268.0 MESH:D012279 NCI:C26878 OMIM:264700 OMIM:277440 OMIM:600081 OMIM:600785 ORDO:289157 SNOMEDCT_US_2016_03_01:154728003 SNOMEDCT_US_2016_03_01:190639009 SNOMEDCT_US_2016_03_01:190640006 SNOMEDCT_US_2016_03_01:41345002 SNOMEDCT_US_2016_03_01:68295002 UMLS_CUI:C0035579 UMLS_CUI:C0221468 active rickets vitamin D hydroxylation-deficient rickets vitamin D-dependent rickets disease_ontology DOID:10609 Xref MGI. rickets A bone remodeling disease that has_material_basis_in impaired mineralization or calcification of bones before epiphyseal closure due to deficiency or impaired metabolism of vitamin D, phosphorus or calcium which results_in softening and deformity located_in bone. url:http://emedicine.medscape.com/article/985510-overview url:http://en.wikipedia.org/wiki/Rickets url:http://www.mayoclinic.com/health/rickets/DS00813 url:http://www.ncbi.nlm.nih.gov/pubmed/26365554 url:http://www.nlm.nih.gov/medlineplus/ency/article/000344.htm url:http://www.umm.edu/ency/article/000344.htm url:https://en.wikipedia.org/wiki/Rickets#Types active rickets SNOMEDCT_2005_07_31:190640006 inborn renal aminoaciduria disease_ontology DOID:1061 renal aminoaciduria true inborn renal aminoaciduria CSP2005:1849-1462 ICD10CM:K90.3 ICD9CM:579.4 SNOMEDCT_US_2016_03_01:155845009 SNOMEDCT_US_2016_03_01:197487009 SNOMEDCT_US_2016_03_01:54576000 UMLS_CUI:C0152166 pancreatic steatorrhea (disorder) pancreatic steatorrhea [dup] (disorder) pancreatic steatorrhoea disease_ontology DOID:10610 pancreatic steatorrhea pancreatic steatorrhea (disorder) SNOMEDCT_2005_07_31:54576000 pancreatic steatorrhea [dup] (disorder) SNOMEDCT_2005_07_31:197487009 pancreatic steatorrhoea SNOMEDCT_2005_07_31:155845009 MESH:D011504 OMIM:226300 SNOMEDCT_US_2016_03_01:22542007 SNOMEDCT_US_2016_03_01:66972006 UMLS_CUI:C0033680 Enteropathy, exudative Exudative enteropathy (disorder) Protein-losing enteropathy (disorder) disease_ontology DOID:10611 OMIM mapping confirmed by DO. [SN]. protein-losing enteropathy Enteropathy, exudative MTHICD9_2006:579.8 Exudative enteropathy (disorder) SNOMEDCT_2005_07_31:22542007 Protein-losing enteropathy (disorder) SNOMEDCT_2005_07_31:66972006 ICD10CM:L50.0 ICD9CM:708.0 SNOMEDCT_US_2016_03_01:156428000 SNOMEDCT_US_2016_03_01:201260002 SNOMEDCT_US_2016_03_01:40178009 UMLS_CUI:C0149526 Allergic urticaria (disorder) disease_ontology DOID:10612 allergic urticaria Allergic urticaria (disorder) SNOMEDCT_2005_07_31:40178009 ICD9CM:098.15 SNOMEDCT_US_2016_03_01:20943002 UMLS_CUI:C0153195 Gonococcal cervicitis (acute) acute gonorrhea of cervix disease_ontology DOID:10615 acute gonococcal cervicitis Gonococcal cervicitis (acute) ICD9CM_2006:098.15 acute gonorrhea of cervix MTHICD9_2006:098.15 NCI:C27056 SNOMEDCT_US_2016_03_01:19272000 UMLS_CUI:C0269061 disease_ontology DOID:10616 acute cervicitis A lymphatic system cancer that is located_in the lymph node. DOID:10438 NCI:C35497 SNOMEDCT_US_2016_03_01:127232002 UMLS_CUI:C0596869 lymph node neoplasm disease_ontology DOID:10619 lymph node cancer A lymphatic system cancer that is located_in the lymph node. url:http://www.cancer.org/cancer/cancerbasics/lymph-nodes-and-cancer lymph node neoplasm NCI2004_11_17:C35497 A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting. DOID:5956 MESH:D005198 NCI:C3034 NCI:C4377 OMIM:134600 OMIM:613388 OMIM:615605 ORDO:3337 SNOMEDCT_US_2016_03_01:236468006 SNOMEDCT_US_2016_03_01:40488004 SNOMEDCT_US_2016_03_01:44673006 UMLS_CUI:C0015624 UMLS_CUI:C0341703 Congenital Fanconi syndrome (disorder) De Toni-Fanconi syndrome Fanconi-de Toni syndrome Fanconi-de-Toni syndrome Infantile nephropathic cystinosis Lignac-Fanconi syndrome adult Fanconi Anemia adult Fanconi syndrome deToni Fanconi syndrome disease_ontology DOID:1062 Xref MGI. OMIM mapping confirmed by DO. [SN]. Fanconi syndrome A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting. url:http://en.wikipedia.org/wiki/Fanconi_syndrome url:http://www.merckmanuals.com/professional/genitourinary_disorders/renal_transport_abnormalities/fanconi_syndrome.html url:http://www.nlm.nih.gov/medlineplus/ency/article/000333.htm Congenital Fanconi syndrome (disorder) SNOMEDCT_2005_07_31:236466005 De Toni-Fanconi syndrome SNOMEDCT_2005_07_31:111398009 Fanconi-de Toni syndrome MTHICD9_2006:270.0 Fanconi-de-Toni syndrome SNOMEDCT_2005_07_31:190683000 Infantile nephropathic cystinosis SNOMEDCT_2005_07_31:62332007 Lignac-Fanconi syndrome SNOMEDCT_2005_07_31:367374009 adult Fanconi Anemia NCI2004_11_17:C4377 deToni Fanconi syndrome CSP2005:1849-2203 disease_ontology DOID:10621 Fissure of nipple associated with childbirth true Juvenile type diabetes mellitus, uncontrolled, with ketoacidosis type I diabetes mellitus [juvenile type], uncontrolled, with ketoacidosis disease_ontology DOID:10626 insulin dependent type diabetes mellitus uncontrolled with ketoacidosis true Juvenile type diabetes mellitus, uncontrolled, with ketoacidosis MTHICD9_2006:250.13 type I diabetes mellitus [juvenile type], uncontrolled, with ketoacidosis ICD9CM_2006:250.13 ICD10CM:H47.21 ICD9CM:377.11 SNOMEDCT_US_2016_03_01:21098003 UMLS_CUI:C0155291 primary optic atrophy (disorder) disease_ontology DOID:10627 primary optic atrophy primary optic atrophy (disorder) SNOMEDCT_2005_07_31:21098003 An eye disease where one or both eyeballs are abnormally small. DOID:10650 ICD10CM:Q11.2 ICD9CM:743.1 ICD9CM:743.10 ICD9CM:743.11 MESH:D008850 NCI:C98989 OMIM:206900 OMIM:300166 OMIM:309801 OMIM:600165 OMIM:601186 OMIM:607932 OMIM:609549 OMIM:610093 OMIM:610125 OMIM:611038 OMIM:611040 OMIM:611897 OMIM:613094 OMIM:613704 OMIM:615972 ORDO:35612 SNOMEDCT_US_2016_03_01:156902006 SNOMEDCT_US_2016_03_01:204104003 SNOMEDCT_US_2016_03_01:204107005 SNOMEDCT_US_2016_03_01:204108000 SNOMEDCT_US_2016_03_01:204110003 SNOMEDCT_US_2016_03_01:268310007 SNOMEDCT_US_2016_03_01:61142002 UMLS_CUI:C0026010 microphthalmos nanophthalmia nanophthalmos simple microphthalmos disease_ontology DOID:10629 Xref MGI. OMIM mapping confirmed by DO. [SN]. microphthalmia An eye disease where one or both eyeballs are abnormally small. url:http://en.wikipedia.org/wiki/Microphthalmia url:http://ghr.nlm.nih.gov/condition/microphthalmia ICD10CM:N12 MESH:D009395 NCI:C26834 SNOMEDCT_US_2016_03_01:264536006 SNOMEDCT_US_2016_03_01:28689008 UMLS_CUI:C0027707 renal tubulo-interstitial disease disease_ontology DOID:1063 interstitial nephritis renal tubulo-interstitial disease SNOMEDCT_2005_07_31:198506002 optic atrophy associated with retinal dystrophies optic atrophy associated with retinal dystrophy (disorder) disease_ontology DOID:10630 optic atrophy associated with retinal dystrophy true optic atrophy associated with retinal dystrophies ICD9CM_2006:377.13 optic atrophy associated with retinal dystrophy (disorder) SNOMEDCT_2005_07_31:19448008 ICD9CM:377.15 SNOMEDCT_US_2016_03_01:111527005 SNOMEDCT_US_2016_03_01:194044005 UMLS_CUI:C0155295 Partial optic atrophy (disorder) disease_ontology DOID:10631 partial optic atrophy Partial optic atrophy (disorder) SNOMEDCT_2005_07_31:111527005 An autosomal recessive disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding wolframin (WFS1). MESH:D014929 NCI:C35133 ORDO:3463 SNOMEDCT_US_2016_03_01:70694009 UMLS_CUI:C0043207 DIDMOAD Diabetes mellitus AND insipidus with optic atrophy AND deafness (disorder) WFS disease_ontology DOID:10632 OMIM mapping confirmed by DO. [LS]. Wolfram syndrome An autosomal recessive disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding wolframin (WFS1). url:http://en.wikipedia.org/wiki/Wolfram_syndrome url:http://omim.org/entry/222300 Diabetes mellitus AND insipidus with optic atrophy AND deafness (disorder) SNOMEDCT_2005_07_31:70694009 A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and has material basis in mutations in the CTNS gene, located on chromosome 17. ICD10CM:E72.04 MESH:D003554 NCI:C2976 OMIM:219750 OMIM:219800 OMIM:219900 ORDO:213 SNOMEDCT_US_2016_03_01:111398009 SNOMEDCT_US_2016_03_01:190681003 SNOMEDCT_US_2016_03_01:190683000 SNOMEDCT_US_2016_03_01:367374009 SNOMEDCT_US_2016_03_01:62332007 UMLS_CUI:C2931187 cystine storage disease disease_ontology DOID:1064 cystinosis A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and has material basis in mutations in the CTNS gene, located on chromosome 17. url:http://ghr.nlm.nih.gov/condition/cystinosis url:http://www.ncbi.nlm.nih.gov/pubmed/?term=12110740 url:https://en.wikipedia.org/wiki/Cystinosis cystine storage disease CSP2005:1849-0607 disease_ontology DOID:10645 chronic state latent schizophrenia with acute exacerbation true A personality disorder that involves a need for social isolation, anxiety in social situations, odd behavior and thinking, and often unconventional beliefs. ICD10CM:F21 ICD9CM:301.22 MESH:D012569 NCI:C92632 SNOMEDCT_US_2016_03_01:231486008 SNOMEDCT_US_2016_03_01:31027006 UMLS_CUI:C0036363 disease_ontology DOID:10646 schizotypal personality disorder A personality disorder that involves a need for social isolation, anxiety in social situations, odd behavior and thinking, and often unconventional beliefs. url:http://en.wikipedia.org/wiki/Schizotypal_personality_disorder ICD9CM:410.30 UMLS_CUI:C0155640 disease_ontology DOID:10648 acute inferoposterior infarction ICD9CM:410.20 UMLS_CUI:C0155636 disease_ontology DOID:10649 acute inferolateral myocardial infarction ICD9CM:410.0 SNOMEDCT_US_2016_03_01:70211005 UMLS_CUI:C0155627 disease_ontology DOID:10651 acute anterolateral myocardial infarction A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. EFO:0000249 ICD10CM:G30 ICD10CM:G30.9 ICD9CM:331.0 KEGG:05010 MESH:D000544 NCI:C2866 OMIM:104300 OMIM:502500 OMIM:604154 SNOMEDCT_US_2016_03_01:154998003 SNOMEDCT_US_2016_03_01:267688001 SNOMEDCT_US_2016_03_01:26929004 SNOMEDCT_US_2016_03_01:73768007 UMLS_CUI:C0002395 AD Alzheimer disease Alzheimers dementia disease_ontology Alzheimer disease, familial DOID:10652 Xref MGI. OMIM mapping confirmed by DO. [SN]. Alzheimer's disease A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. ls:IEDB url:http://en.wikipedia.org/wiki/Alzheimer%27s_disease url:http://www.merriam-webster.com/medical/alzheimer%27s%20disease url:http://www.nia.nih.gov/alzheimers/publication/alzheimers-disease-fact-sheet AD CSP2005:0485-6737 Alzheimers dementia NCI2004_11_17:C2866 Alzheimer disease, familial MESH:C536597 NCI:C5493 UMLS_CUI:C0940607 Colonic Lipoma disease_ontology DOID:10655 lipoma of colon Colonic Lipoma NCI2004_11_17:C5493 NCI:C5492 UMLS_CUI:C1333092 Colonic leiomyoma disease_ontology DOID:10656 colon leiomyoma Colonic leiomyoma NCI2004_11_17:C5492 NCI:C5500 UMLS_CUI:C1333094 Colonic Lymphangioma Lymphangioma of colon disease_ontology DOID:10657 colonic lymphangioma Colonic Lymphangioma NCI2004_11_17:C5500 disease_ontology DOID:10659 colonic ganglioneuroma true ICD10CM:H40.15 ICD9CM:365.15 SNOMEDCT_US_2016_03_01:193542007 SNOMEDCT_US_2016_03_01:66990007 UMLS_CUI:C0154944 Open-angle glaucoma residual stage Residual stage of open angle glaucoma disease_ontology DOID:1066 residual stage of open angle glaucoma Open-angle glaucoma residual stage SNOMEDCT_2005_07_31:193542007 Residual stage of open angle glaucoma SNOMEDCT_2005_07_31:66990007 A malignant mediastinal neurogenic neoplasm that has_material_basis_in immature nerve cells. NCI:C6628 UMLS_CUI:C1334673 neuroblastoma of mediastinum disease_ontology DOID:10660 mediastinum neuroblastoma A malignant mediastinal neurogenic neoplasm that has_material_basis_in immature nerve cells. url:http://www.cancer.gov/dictionary?CdrID=45418 neuroblastoma of mediastinum NCI2004_11_17:C6628 NCI:C6627 UMLS_CUI:C1334653 Ganglioneuroblastoma of mediastinum disease_ontology DOID:10661 mediastinum ganglioneuroblastoma Ganglioneuroblastoma of mediastinum NCI2004_11_17:C6627 A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage. EFO:0004190 ICD10CM:H40.1 ICD10CM:H40.10 ICD10CM:H40.13 ICD9CM:365.1 ICD9CM:365.10 ICD9CM:365.13 MESH:D005902 NCI:C34641 OMIM:137750 OMIM:177700 OMIM:601682 OMIM:602429 OMIM:603383 OMIM:606689 OMIM:608695 OMIM:608696 OMIM:609745 OMIM:609887 OMIM:610535 OMIM:611274 OMIM:611276 OMIM:613100 SNOMEDCT_US_2016_03_01:111513000 SNOMEDCT_US_2016_03_01:193538009 SNOMEDCT_US_2016_03_01:193539001 SNOMEDCT_US_2016_03_01:193543002 SNOMEDCT_US_2016_03_01:46168003 SNOMEDCT_US_2016_03_01:84494001 UMLS_CUI:C0017612 Wide-angle glaucoma glaucoma simplex open angle glaucoma pigmentary glaucoma disease_ontology DOID:1067 Xref MGI. open-angle glaucoma A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage. url:http://en.wikipedia.org/wiki/Glaucoma url:http://www.merckmanuals.com/professional/eye_disorders/glaucoma/primary_open-angle_glaucoma.html Wide-angle glaucoma MTHICD9_2006:365.10 glaucoma simplex SNOMEDCT_2005_07_31:111513000 open angle glaucoma NCI2004_11_17:C34641 pigmentary glaucoma ICD9CM_2006:365.13 SNOMEDCT_2005_07_31:193539001 Glaucoma of childhood disease_ontology DOID:1068 juvenile glaucoma Glaucoma of childhood ICD9CM_2006:365.14 An anxiety disorder that involves the feeling of excessive and inappropriate levels of anxiety over being separated from a person to whom the individual has a strong emotional attachment or place. disease_ontology DOID:10685 separation anxiety disorder An anxiety disorder that involves the feeling of excessive and inappropriate levels of anxiety over being separated from a person to whom the individual has a strong emotional attachment or place. url:http://en.wikipedia.org/wiki/Separation_anxiety_disorder ICD10CM:N64.89 ICD9CM:611.5 MESH:C535998 NCI:C3515 SNOMEDCT_US_2016_03_01:155966000 SNOMEDCT_US_2016_03_01:266647006 SNOMEDCT_US_2016_03_01:42385006 UMLS_CUI:C0152243 Galactocele disease_ontology DOID:10686 lactocele Galactocele NCI2004_11_17:C3515 ICD10CM:N62 ICD9CM:611.1 NCI:C3125 SNOMEDCT_US_2016_03_01:155963008 SNOMEDCT_US_2016_03_01:198114003 SNOMEDCT_US_2016_03_01:266646002 SNOMEDCT_US_2016_03_01:372281005 SNOMEDCT_US_2016_03_01:43336006 UMLS_CUI:C0020565 breasts enlarged large breast disease_ontology DOID:10688 hypertrophy of breast breasts enlarged SNOMEDCT_2005_07_31:43336006 large breast SNOMEDCT_2005_07_31:248809000 GALACTORRHEA Galactorrhea due to non-obstetric cause (disorder) Galactorrhea not associated with childbirth (disorder) Galactorrhoea disease_ontology DOID:10689 galactorrhea not associated with childbirth true GALACTORRHEA MTH:NOCODE Galactorrhea due to non-obstetric cause (disorder) SNOMEDCT_2005_07_31:198115002 Galactorrhea not associated with childbirth (disorder) SNOMEDCT_2005_07_31:78622004 Galactorrhoea SNOMEDCT_2005_07_31:155965001 MESH:D008413 NCI:C53662 SNOMEDCT_US_2016_03_01:155952005 SNOMEDCT_US_2016_03_01:155955007 SNOMEDCT_US_2016_03_01:198099006 SNOMEDCT_US_2016_03_01:266641007 SNOMEDCT_US_2016_03_01:266644004 SNOMEDCT_US_2016_03_01:45198002 UMLS_CUI:C0024894 Inflammatory breast disease Inflammatory disease of breast breast inflammation disease_ontology DOID:10690 mastitis Inflammatory breast disease SNOMEDCT_2005_07_31:198099006 Inflammatory disease of breast ICD9CM_2006:611.0 breast inflammation SNOMEDCT_2005_07_31:266644004 ICD10CM:N64.1 ICD9CM:611.3 NCI:C3661 SNOMEDCT_US_2016_03_01:21381006 UMLS_CUI:C0156321 breast Fat necrosis disease_ontology DOID:10691 fat necrosis of breast breast Fat necrosis NCI2004_11_17:C3661 ICD9CM:360.03 SNOMEDCT_US_2016_03_01:13978000 SNOMEDCT_US_2016_03_01:193269007 UMLS_CUI:C0154774 disease_ontology DOID:10697 chronic endophthalmitis A parasitic helminthiasis infectious disease that involves parasitic infection by flukes of the genus Paragonimus. In the acute phase, the symptoms are diarrhea, abdominal pain, fever, cough, urticaria, hepatosplenomegaly, pulmonary abnormalities, and eosinophilia. Pulmonary manifestations include cough, expectoration of discolored sputum, hemoptysis, and chest radiographic abnormalities. Various organs like brain, spleen and liver can be infected. ICD10CM:B66.4 ICD9CM:121.2 MESH:D010237 NCI:C84995 SNOMEDCT_US_2016_03_01:240807004 SNOMEDCT_US_2016_03_01:240808009 SNOMEDCT_US_2016_03_01:30369007 UMLS_CUI:C0030424 Infection by Paragonimus (disorder) lung fluke disease lung fluke infection pulmonary paragonimiasis disease_ontology DOID:10699 paragonimiasis A parasitic helminthiasis infectious disease that involves parasitic infection by flukes of the genus Paragonimus. In the acute phase, the symptoms are diarrhea, abdominal pain, fever, cough, urticaria, hepatosplenomegaly, pulmonary abnormalities, and eosinophilia. Pulmonary manifestations include cough, expectoration of discolored sputum, hemoptysis, and chest radiographic abnormalities. Various organs like brain, spleen and liver can be infected. url:http://www.dpd.cdc.gov/dpdx/HTML/Paragonimiasis.htm Infection by Paragonimus (disorder) SNOMEDCT_2005_07_31:30369007 lung fluke disease MTHICD9_2006:121.2 lung fluke infection SNOMEDCT_2005_07_31:240807004 pulmonary paragonimiasis SNOMEDCT_2005_07_31:240808009 ICD10CM:H40.11 ICD9CM:365.11 MESH:C562750 NCI:C35394 OMIM:137760 SNOMEDCT_US_2016_03_01:155122001 SNOMEDCT_US_2016_03_01:77075001 UMLS_CUI:C0339573 chronic simple glaucoma disease_ontology DOID:1070 OMIM mapping confirmed by DO. [SN]. primary open angle glaucoma Passive-aggressive personality disease_ontology passive-aggressive personality disorder DOID:10708 passive-aggressive personality disorder true Passive-aggressive personality ICD9CM_2006:301.84 Meningococcal septicaemia Meningococcemia Meningococcemia (disorder) Meningococcemia, unspecified (disorder) disease_ontology DOID:10717 meningococcal septicemia true Meningococcal septicaemia SNOMEDCT_2005_07_31:154308000 Meningococcemia ICD9CM_2006:036.2 Meningococcemia (disorder) SNOMEDCT_2005_07_31:4089001 Meningococcemia, unspecified (disorder) SNOMEDCT_2005_07_31:187326004 A parasitic protozoa infectious disease that involves infection of the small intestine by a single-celled enteric protozoan parasite Giardia intestinalis. The symptoms include greasy and malodorous stools, diarrhea, abdominal pain, bloating, nausea, and vomiting. ICD10CM:A07.1 ICD9CM:007.1 MESH:D005873 SNOMEDCT_US_2016_03_01:10679007 SNOMEDCT_US_2016_03_01:154275004 SNOMEDCT_US_2016_03_01:186124000 SNOMEDCT_US_2016_03_01:266075009 SNOMEDCT_US_2016_03_01:266176008 SNOMEDCT_US_2016_03_01:58265007 UMLS_CUI:C0017536 Infection by Giardia lamblia beaver feaver disease_ontology DOID:10718 giardiasis A parasitic protozoa infectious disease that involves infection of the small intestine by a single-celled enteric protozoan parasite Giardia intestinalis. The symptoms include greasy and malodorous stools, diarrhea, abdominal pain, bloating, nausea, and vomiting. url:http://en.wikipedia.org/wiki/Giardiasis url:http://www.dpd.cdc.gov/DPDx/HTML/Giardiasis.htm Infection by Giardia lamblia MTHICD9_2006:007.1 ICD9CM:242.00 UMLS_CUI:C0154138 disease_ontology DOID:10719 toxic diffuse goiter MESH:D006977 NCI:C3121 SNOMEDCT_US_2016_03_01:194775007 SNOMEDCT_US_2016_03_01:28119000 UMLS_CUI:C0020544 disease_ontology DOID:1073 renal hypertension A pulmonary tuberculosis presenting as multiple bilateral large nodules in the lungs. disease_ontology DOID:10731 nodular lung tuberculosis true A pulmonary tuberculosis presenting as multiple bilateral large nodules in the lungs. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1801923/pdf/canmedaj01136-0061.pdf A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood. ICD10CM:N19 ICD9CM:586 MESH:D051437 NCI:C4376 SNOMEDCT_US_2016_03_01:156092003 SNOMEDCT_US_2016_03_01:197656003 SNOMEDCT_US_2016_03_01:198524000 SNOMEDCT_US_2016_03_01:266553002 SNOMEDCT_US_2016_03_01:266616000 SNOMEDCT_US_2016_03_01:42399005 UMLS_CUI:C0035078 renal failure disease_ontology DOID:1074 PRISM. kidney failure A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood. url:http://en.wikipedia.org/wiki/Renal_failure url:http://www.nlm.nih.gov/medlineplus/kidneyfailure.html renal failure SNOMEDCT_2005_07_31:198524000 ICD9CM:330.1 SNOMEDCT_US_2016_03_01:16517004 SNOMEDCT_US_2016_03_01:192786008 SNOMEDCT_US_2016_03_01:192789001 UMLS_CUI:C0007788 disease_ontology DOID:10742 cerebral lipidosis ICD10CM:C57.1 ICD9CM:183.3 SNOMEDCT_US_2016_03_01:188202001 SNOMEDCT_US_2016_03_01:449259009 SNOMEDCT_US_2016_03_01:93728003 UMLS_CUI:C0346866 malignant neoplasm of broad ligament of uterus disease_ontology DOID:10744 broad ligament malignant neoplasm malignant neoplasm of broad ligament of uterus ICD9CM_2006:183.3 ICD9CM:204.2 SNOMEDCT_US_2016_03_01:154590001 SNOMEDCT_US_2016_03_01:188726003 SNOMEDCT_US_2016_03_01:190035004 SNOMEDCT_US_2016_03_01:33560006 SNOMEDCT_US_2016_03_01:95274002 UMLS_CUI:C0152271 subacute lymphoid leukemia disease_ontology DOID:10747 lymphoid leukemia disease_ontology DOID:1075 chronic pyelonephritis with lesion of renal medullary necrosis true A otitis which involves inflammation of the middle ear. ICD10CM:H66.9 ICD10CM:H66.90 ICD9CM:382.9 MESH:D010033 NCI:C34885 SNOMEDCT_US_2016_03_01:155222006 SNOMEDCT_US_2016_03_01:194291009 SNOMEDCT_US_2016_03_01:267669008 SNOMEDCT_US_2016_03_01:65363002 UMLS_CUI:C0029882 disease_ontology DOID:10754 otitis media A otitis which involves inflammation of the middle ear. url:http://en.wikipedia.org/wiki/Otitis_media An osteomyelitis that has_material_basis_in infection located_in petrous part of temporal bone. DOID:14013 DOID:14014 ICD10CM:H70.2 ICD10CM:H70.20 ICD10CM:H70.209 ICD10CM:H70.21 ICD10CM:H70.219 ICD10CM:H70.22 ICD10CM:H70.229 ICD9CM:383.2 ICD9CM:383.20 ICD9CM:383.21 ICD9CM:383.22 MESH:D059270 SNOMEDCT_US_2016_03_01:155233009 SNOMEDCT_US_2016_03_01:194300003 SNOMEDCT_US_2016_03_01:194301004 SNOMEDCT_US_2016_03_01:267760001 SNOMEDCT_US_2016_03_01:28593007 SNOMEDCT_US_2016_03_01:34997001 SNOMEDCT_US_2016_03_01:51211002 UMLS_CUI:C0155448 UMLS_CUI:C0155449 UMLS_CUI:C0155450 acute petrositis chronic petrositis disease_ontology inflammation of petrous bone DOID:10755 petrositis An osteomyelitis that has_material_basis_in infection located_in petrous part of temporal bone. url:http://medical-dictionary.thefreedictionary.com/petrositis url:http://www.nlm.nih.gov/medlineplus/ency/article/001254.htm ICD10CM:N11 ICD10CM:N11.9 ICD9CM:590.0 NCI:C123216 SNOMEDCT_US_2016_03_01:123293005 SNOMEDCT_US_2016_03_01:155861006 SNOMEDCT_US_2016_03_01:197767009 SNOMEDCT_US_2016_03_01:266619007 SNOMEDCT_US_2016_03_01:63302006 UMLS_CUI:C0085697 disease_ontology DOID:1076 chronic pyelonephritis Choroidal rupture (disorder) disease_ontology DOID:10760 choroidal rupture true Choroidal rupture (disorder) SNOMEDCT_2005_07_31:2532009 ICD10CM:K76.6 ICD9CM:572.3 MESH:D006975 NCI:C3119 SNOMEDCT_US_2016_03_01:155821005 SNOMEDCT_US_2016_03_01:34742003 UMLS_CUI:C0020541 disease_ontology DOID:10762 portal hypertension An artery disease characterized by chronic elevated blood pressure in the arteries. EFO:0000537 ICD10CM:I10 ICD10CM:I10-I15 ICD9CM:401-405.99 ICD9CM:997.91 MESH:D006973 NCI:C3117 SNOMEDCT_US_2016_03_01:155295004 SNOMEDCT_US_2016_03_01:155302005 SNOMEDCT_US_2016_03_01:194756002 SNOMEDCT_US_2016_03_01:194757006 SNOMEDCT_US_2016_03_01:194760004 SNOMEDCT_US_2016_03_01:194794002 SNOMEDCT_US_2016_03_01:195537001 SNOMEDCT_US_2016_03_01:266287006 SNOMEDCT_US_2016_03_01:38341003 UMLS_CUI:C0020538 HTN High blood pressure (& [essential hypertension]) hyperpiesia vascular hypertensive disorder disease_ontology hypertensive disease DOID:10763 hypertension An artery disease characterized by chronic elevated blood pressure in the arteries. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=24352797 url:https://en.wikipedia.org/wiki/Hypertension HTN CSP2005:0571-5243 High blood pressure (& [essential hypertension]) SNOMEDCT_2005_07_31:194757006 hyperpiesia CSP2005:4003-0017 vascular hypertensive disorder NCI2004_11_17:C3117 hypertensive disease MTH:NOCODE disease_ontology DOID:10764 liver abscess and sequelae of chronic liver disease true A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Spirurida. DOID:11679 filarial infectious disease and dracontiasis disease_ontology DOID:1077 Spirurida infectious disease true A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Spirurida. url:http://en.wikipedia.org/wiki/Spirurida ICD10CM:M31.1 MESH:D011697 NCI:C78797 SNOMEDCT_US_2016_03_01:155443009 SNOMEDCT_US_2016_03_01:195358008 SNOMEDCT_US_2016_03_01:195359000 SNOMEDCT_US_2016_03_01:360402008 SNOMEDCT_US_2016_03_01:78129009 UMLS_CUI:C0034155 Moschcowitz's syndrome disease_ontology DOID:10772 thrombotic thrombocytopenic purpura Moschcowitz's syndrome MTHICD9_2006:446.6 A plague that results_in infection located_in lymph node producing a bubo, which is an inflamed, necrotic, and hemorrhagic lymphoid tissue. The infection has_symptom enlarged, tender lymph nodes, has_symptom fever, has_symptom chills and has_symptom prostration. ICD10CM:A20.0 ICD9CM:020.0 MESH:D010930 SNOMEDCT_US_2016_03_01:50797007 SNOMEDCT_US_2016_03_01:58750007 UMLS_CUI:C0282312 black death disease_ontology DOID:10773 bubonic plague A plague that results_in infection located_in lymph node producing a bubo, which is an inflamed, necrotic, and hemorrhagic lymphoid tissue. The infection has_symptom enlarged, tender lymph nodes, has_symptom fever, has_symptom chills and has_symptom prostration. url:http://www.cdc.gov/ncidod/dvbid/plague/facts.htm#content_area black death CSP2005:0368-3331 cellulocutaneous plague cellulocutaneous plague (disorder) disease_ontology DOID:10774 cutaneous plague true cellulocutaneous plague ICD9CM_2006:020.1 cellulocutaneous plague (disorder) SNOMEDCT_2005_07_31:43484003 ICD10CM:I40.1 ICD9CM:422.91 SNOMEDCT_US_2016_03_01:194954007 SNOMEDCT_US_2016_03_01:194955008 SNOMEDCT_US_2016_03_01:266238009 SNOMEDCT_US_2016_03_01:91025000 UMLS_CUI:C0155689 Idiopathic myocarditis Isolated (Fiedler's) myocarditis fiedler myocarditis disease_ontology DOID:10778 fiedler's myocarditis Idiopathic myocarditis ICD9CM_2006:422.91 Isolated (Fiedler's) myocarditis SNOMEDCT_2005_07_31:194954007 ICD10CM:I40.0 ICD9CM:422.92 SNOMEDCT_US_2016_03_01:194959002 SNOMEDCT_US_2016_03_01:64043005 UMLS_CUI:C0155690 Septic myocarditis NOS (disorder) Septic myocarditis, NOS disease_ontology DOID:10779 septic myocarditis Septic myocarditis NOS (disorder) SNOMEDCT_2005_07_31:194959002 Septic myocarditis, NOS SNOMEDCT_2005_07_31:64043005 A Nematoda infectious disease that involves infection by parasitic worms of the class Chromadorea, characterized by body annules, elaborated and spiral amphids, and three esophageal glands. DOID:4192 secernentea infectious disease disease_ontology DOID:1078 Chromadorea infectious disease true A Nematoda infectious disease that involves infection by parasitic worms of the class Chromadorea, characterized by body annules, elaborated and spiral amphids, and three esophageal glands. url:http://en.wikipedia.org/wiki/Chromadoria ICD10CM:D75.0 ICD9CM:289.6 MESH:C536842 NCI:C26955 OMIM:PS133100 SNOMEDCT_US_2016_03_01:154840005 SNOMEDCT_US_2016_03_01:17342003 SNOMEDCT_US_2016_03_01:267571003 UMLS_CUI:C0152264 Familiar Polycythemia familial erythrocytosis disease_ontology DOID:10780 primary polycythemia Familiar Polycythemia NCI2004_11_17:C26955 ICD10CM:I88.0 ICD9CM:289.2 MESH:D008640 NCI:C26830 SNOMEDCT_US_2016_03_01:154837005 SNOMEDCT_US_2016_03_01:191376006 SNOMEDCT_US_2016_03_01:191378007 SNOMEDCT_US_2016_03_01:267548000 SNOMEDCT_US_2016_03_01:44897000 UMLS_CUI:C0025469 Mesenteric adenitis Mesenteric lymphadenitis Mesenteric lymphadenitis (disorder) disease_ontology DOID:10782 mesenteric lymphadenitis Mesenteric adenitis SNOMEDCT_2005_07_31:154837005 Mesenteric adenitis SNOMEDCT_2005_07_31:191376006 Mesenteric lymphadenitis MTHICD9_2006:289.2 Mesenteric lymphadenitis (disorder) SNOMEDCT_2005_07_31:44897000 ICD10CM:D74 ICD10CM:D74.9 ICD9CM:289.7 MESH:D008708 NCI:C34817 SNOMEDCT_US_2016_03_01:124965005 SNOMEDCT_US_2016_03_01:131171006 SNOMEDCT_US_2016_03_01:191386007 SNOMEDCT_US_2016_03_01:191393006 SNOMEDCT_US_2016_03_01:267549008 SNOMEDCT_US_2016_03_01:38959009 UMLS_CUI:C0025637 disease_ontology DOID:10783 methemoglobinemia A spotted fever that has_material_basis_in Rickettsia australis, which is transmitted_by ticks (Ixodes holocyclus). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash, and has_symptom lymphadenopathy. DOID:0050038 Queensland tick typhus (disorder) Rickettsia australis spotted fever disease_ontology Australian tick typhus North Queensland tick typhus DOID:10784 Queensland tick typhus A spotted fever that has_material_basis_in Rickettsia australis, which is transmitted_by ticks (Ixodes holocyclus). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash, and has_symptom lymphadenopathy. url:http://cmr.asm.org/cgi/content/full/18/4/719#Rickettsia_australis_%28Queensland_tick_typhus%29 url:http://www.cdc.gov/otherspottedfever/index.html Queensland tick typhus (disorder) SNOMEDCT_2005_07_31:68981009 ICD10CM:E28.31 ICD10CM:E28.319 ICD9CM:256.31 MESH:D008594 NCI:C80099 SNOMEDCT_US_2016_03_01:154713003 SNOMEDCT_US_2016_03_01:190544007 SNOMEDCT_US_2016_03_01:237789005 SNOMEDCT_US_2016_03_01:267486007 SNOMEDCT_US_2016_03_01:373717006 SNOMEDCT_US_2016_03_01:74296006 UMLS_CUI:C0025322 Menopause - premature Menopause praecox disease_ontology DOID:10787 premature menopause Menopause - premature SNOMEDCT_2005_07_31:267486007 Menopause praecox SNOMEDCT_2005_07_31:74296006 Focal sclerosing osteomyelitis Sclerosing osteitis disease_ontology DOID:10788 osteitis condensans true Focal sclerosing osteomyelitis SNOMEDCT_2005_07_31:55413008 Sclerosing osteitis SNOMEDCT_2005_07_31:54691007 A filariasis that involves parasitic infection of the abdomen in cattle, horses and sheep by nematodes of the genus Setaria. MESH:D012719 SNOMEDCT_US_2016_03_01:4414005 UMLS_CUI:C0036850 Infectious Disease by Setaria (disorder) disease_ontology DOID:1079 setariasis A filariasis that involves parasitic infection of the abdomen in cattle, horses and sheep by nematodes of the genus Setaria. url:http://www.jstor.org/stable/pdfplus/3277411.pdf Infectious Disease by Setaria (disorder) SNOMEDCT_2005_07_31:4414005 A frontal sinusitis which lasts for 12 weeks or more. This causes steady headache, localized tenderness and intermittent, purulent nasal and postnasal drainage. ICD10CM:J32.1 ICD9CM:473.1 NCI:C34473 SNOMEDCT_US_2016_03_01:155527004 SNOMEDCT_US_2016_03_01:195786002 SNOMEDCT_US_2016_03_01:60130002 UMLS_CUI:C0008683 disease_ontology DOID:10790 chronic frontal sinusitis A frontal sinusitis which lasts for 12 weeks or more. This causes steady headache, localized tenderness and intermittent, purulent nasal and postnasal drainage. url:http://en.wikipedia.org/wiki/sinusitis url:http://www.merck.com/mmhe/sec19/ch221/ch221i.html url:http://www3.niaid.nih.gov/topics/sinusitis/overview.htm A sinusitis which involves infection of the frontal sinuses over the eyes in the brow area. This causes pain or pressure in the frontal sinus cavity and headache over the forehead. ICD10CM:J32.1 MESH:D015522 NCI:C34626 SNOMEDCT_US_2016_03_01:195786002 SNOMEDCT_US_2016_03_01:275485006 SNOMEDCT_US_2016_03_01:78737005 UMLS_CUI:C0016735 disease_ontology DOID:10791 frontal sinusitis A sinusitis which involves infection of the frontal sinuses over the eyes in the brow area. This causes pain or pressure in the frontal sinus cavity and headache over the forehead. url:http://en.wikipedia.org/wiki/sinusitis url:http://www.merck.com/mmhe/sec19/ch221/ch221i.html url:http://www3.niaid.nih.gov/topics/sinusitis/overview.htm A maxillary sinusitis which lasts for 12 weeks or more. ICD10CM:J32.0 ICD9CM:473.0 NCI:C34477 SNOMEDCT_US_2016_03_01:155526008 SNOMEDCT_US_2016_03_01:195785003 SNOMEDCT_US_2016_03_01:35923002 SNOMEDCT_US_2016_03_01:8299006 UMLS_CUI:C0008698 chronic antritis disease_ontology DOID:10792 chronic maxillary sinusitis A maxillary sinusitis which lasts for 12 weeks or more. url:http://en.wikipedia.org/wiki/sinusitis url:http://www.merck.com/mmhe/sec19/ch221/ch221i.html url:http://www3.niaid.nih.gov/topics/sinusitis/overview.htm chronic antritis SNOMEDCT_2005_07_31:8299006 A sphenoid sinusitis which lasts for 12 weeks or more. ICD10CM:J32.3 ICD9CM:473.3 NCI:C34480 SNOMEDCT_US_2016_03_01:155528009 SNOMEDCT_US_2016_03_01:266384001 SNOMEDCT_US_2016_03_01:38961000 UMLS_CUI:C0008712 Sphenoidal sinus-chr. disease_ontology DOID:10793 chronic sphenoidal sinusitis A sphenoid sinusitis which lasts for 12 weeks or more. url:http://en.wikipedia.org/wiki/sinusitis Sphenoidal sinus-chr. SNOMEDCT_2005_07_31:266384001 A sinusitis which involves infection of sphenoid sinuses that causes pain or pressure behind the eyes, but often refers to the vertex of the head. ICD10CM:J32.3 MESH:D015524 NCI:C35031 SNOMEDCT_US_2016_03_01:13266007 UMLS_CUI:C0037886 Sphenoidal sinusitis disease_ontology DOID:10794 sphenoid sinusitis A sinusitis which involves infection of sphenoid sinuses that causes pain or pressure behind the eyes, but often refers to the vertex of the head. url:http://en.wikipedia.org/wiki/sinusitis Sphenoidal sinusitis NCI2004_11_17:C35031 Congenital syphilitic encephalitis (disorder) Encephalitis due to congenital syphilis disease_ontology DOID:10795 congenital syphilitic encephalitis true Congenital syphilitic encephalitis (disorder) SNOMEDCT_2005_07_31:32735002 Encephalitis due to congenital syphilis SNOMEDCT_2005_07_31:192699001 A parasitic helminthiasis infectious disease that involves parasitic infection of the lymphatics and subcutaneous tissue by nematodes of the superfamily Filarioidea. ICD10CM:B74 ICD10CM:B74.9 ICD9CM:125.9 MESH:D005368 NCI:C34611 SNOMEDCT_US_2016_03_01:105706003 SNOMEDCT_US_2016_03_01:187161002 SNOMEDCT_US_2016_03_01:187532008 SNOMEDCT_US_2016_03_01:50342004 UMLS_CUI:C0016085 disease due to superfamily Filarioidea (disorder) disease_ontology DOID:1080 filariasis A parasitic helminthiasis infectious disease that involves parasitic infection of the lymphatics and subcutaneous tissue by nematodes of the superfamily Filarioidea. url:http://en.wikipedia.org/wiki/Filariasis disease due to superfamily Filarioidea (disorder) SNOMEDCT_2005_07_31:105706003 ICD9CM:098.13 SNOMEDCT_US_2016_03_01:186912008 SNOMEDCT_US_2016_03_01:30168008 UMLS_CUI:C0153193 Gonococcal epididymo-orchitis (acute) disease_ontology DOID:10802 acute gonococcal epididymo-orchitis Gonococcal epididymo-orchitis (acute) ICD9CM_2006:098.13 Haemophilus meningitis (disorder) Hemophilus meningitis disease_ontology DOID:10803 Haemophilus influenzae meningitis true Haemophilus meningitis (disorder) SNOMEDCT_2005_07_31:192643004 Hemophilus meningitis ICD9CM_2006:320.0 DOID:10807 DOID:10809 DOID:12047 DOID:12057 DOID:12068 DOID:12069 DOID:12806 DOID:13124 DOID:13125 DOID:241 DOID:242 ICD10CM:K25 ICD9CM:531 MESH:D013276 NCI:C3388 SNOMEDCT_US_2016_03_01:155681009 SNOMEDCT_US_2016_03_01:155690002 SNOMEDCT_US_2016_03_01:196627009 SNOMEDCT_US_2016_03_01:196642007 SNOMEDCT_US_2016_03_01:196649003 SNOMEDCT_US_2016_03_01:196650003 SNOMEDCT_US_2016_03_01:266436006 SNOMEDCT_US_2016_03_01:397825006 SNOMEDCT_US_2016_03_01:6034002 UMLS_CUI:C0038358 acute gastric ulcer with haemorrhage and perforation acute gastric ulcer with hemorrhage AND obstruction (disorder) acute gastric ulcer with hemorrhage AND perforation acute gastric ulcer with hemorrhage AND perforation (disorder) acute gastric ulcer with hemorrhage AND perforation [dup] (disorder) acute gastric ulcer with hemorrhage AND with perforation but without obstruction acute gastric ulcer with hemorrhage AND with perforation but without obstruction (disorder) acute gastric ulcer with hemorrhage and obstruction acute gastric ulcer with hemorrhage and perforation acute gastric ulcer with hemorrhage and perforation, with obstruction acute gastric ulcer with hemorrhage and perforation, without mention of obstruction acute gastric ulcer with hemorrhage, with obstruction acute gastric ulcer with hemorrhage, with perforation AND with obstruction (disorder) acute gastric ulcer with perforation acute gastric ulcer with perforation AND obstruction acute gastric ulcer with perforation AND obstruction (disorder) acute gastric ulcer with perforation, with obstruction acute gastric ulcer without hemorrhage and without perforation acute gastric ulcer without hemorrhage, without perforation AND without obstruction acute gastric ulcer without hemorrhage, without perforation AND without obstruction (disorder) acute gastric ulcer without mention of hemorrhage or perforation, without mention of obstruction bleeding acute gastric ulcer chronic gastric ulcer without hemorrhage AND without perforation chronic gastric ulcer without hemorrhage AND without perforation but with obstruction chronic gastric ulcer without hemorrhage AND without perforation but with obstruction (disorder) chronic gastric ulcer without mention of hemorrhage or perforation, with obstruction disease_ontology DOID:10808 gastric ulcer acute gastric ulcer with haemorrhage and perforation SNOMEDCT_2005_07_31:155684001 acute gastric ulcer with hemorrhage AND obstruction (disorder) SNOMEDCT_2005_07_31:46708007 acute gastric ulcer with hemorrhage AND perforation (disorder) SNOMEDCT_2005_07_31:48974009 acute gastric ulcer with hemorrhage AND perforation [dup] (disorder) SNOMEDCT_2005_07_31:196631003 acute gastric ulcer with hemorrhage AND with perforation but without obstruction (disorder) SNOMEDCT_2005_07_31:17067009 acute gastric ulcer with hemorrhage and perforation ICD9CM_2006:531.2 acute gastric ulcer with hemorrhage and perforation, without mention of obstruction ICD9CM_2006:531.20 acute gastric ulcer with hemorrhage, with obstruction ICD9CM_2006:531.01 acute gastric ulcer with hemorrhage, with perforation AND with obstruction (disorder) SNOMEDCT_2005_07_31:53337006 acute gastric ulcer with perforation AND obstruction (disorder) SNOMEDCT_2005_07_31:43694004 acute gastric ulcer with perforation, with obstruction ICD9CM_2006:531.11 acute gastric ulcer without hemorrhage, without perforation AND without obstruction (disorder) SNOMEDCT_2005_07_31:54053008 acute gastric ulcer without mention of hemorrhage or perforation, without mention of obstruction ICD9CM_2006:531.30 chronic gastric ulcer without hemorrhage AND without perforation but with obstruction (disorder) SNOMEDCT_2005_07_31:60531007 chronic gastric ulcer without mention of hemorrhage or perforation, with obstruction ICD9CM_2006:531.71 A filariasis that involves parasitic infection by the nematodes Mansonella ozzardi or Mansonella perstans, which reside in the skin or body cavities. The nematode is transmitted through the bite of midges and blackflies. ICD10CM:B74.4 MESH:D008368 NCI:C84882 SNOMEDCT_US_2016_03_01:240849009 UMLS_CUI:C0024759 disease_ontology DOID:1081 mansonelliasis A filariasis that involves parasitic infection by the nematodes Mansonella ozzardi or Mansonella perstans, which reside in the skin or body cavities. The nematode is transmitted through the bite of midges and blackflies. url:http://en.wikipedia.org/wiki/Mansonelliasis ICD9CM:726.72 SNOMEDCT_US_2016_03_01:50127006 UMLS_CUI:C0158321 Tibialis tendinitis (disorder) disease_ontology DOID:10810 tibialis tendinitis Tibialis tendinitis (disorder) SNOMEDCT_2005_07_31:50127006 A respiratory system cancer that is located_in the nasal cavity. ICD10CM:C30.0 ICD9CM:160.0 NCI:C4918 SNOMEDCT_US_2016_03_01:187832001 SNOMEDCT_US_2016_03_01:363422006 SNOMEDCT_US_2016_03_01:93917007 UMLS_CUI:C0728864 malignant neoplasm of nasal cavities malignant tumor of the nasal cavity disease_ontology DOID:10811 nasal cavity cancer A respiratory system cancer that is located_in the nasal cavity. url:http://en.wikipedia.org/wiki/Nasal_cavity malignant neoplasm of nasal cavities ICD9CM_2006:160.0 malignant tumor of the nasal cavity NCI2004_11_17:C4918 NCI:C7604 UMLS_CUI:C1334923 Olfactory neuroblastoma of the nasal cavity disease_ontology DOID:10812 nasal cavity olfactory neuroblastoma Olfactory neuroblastoma of the nasal cavity NCI2004_11_17:C7604 NCI:C6074 UMLS_CUI:C1334921 Lymphoma of the nasal cavity lymphoma of nasal cavity disease_ontology DOID:10813 nasal cavity lymphoma Lymphoma of the nasal cavity NCI2004_11_17:C6074 recurrent malignant Duodenal neoplasm disease_ontology DOID:10815 recurrent duodenal cancer true recurrent malignant Duodenal neoplasm NCI2004_11_17:C9263 A duodenum cancer that derives_from epithelial cells of glandular origin. NCI:C7889 SNOMEDCT_US_2016_03_01:408644002 UMLS_CUI:C0278804 Duodenal adenocarcinoma adenocarcinoma of duodenum (disorder) disease_ontology adenocarcinoma of duodenum DOID:10816 duodenum adenocarcinoma A duodenum cancer that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma Duodenal adenocarcinoma NCI2004_11_17:C7889 adenocarcinoma of duodenum (disorder) SNOMEDCT_2005_07_31:408644002 ICD10CM:F65.52 ICD9CM:302.84 MESH:D012448 NCI:C94358 SNOMEDCT_US_2016_03_01:59394009 UMLS_CUI:C0036913 disease_ontology DOID:10817 sexual sadism Aseptic leptospiral meningitis Aseptic leptospiral meningitis (disorder) Leptospiral meningitis (aseptic) Leptospiral meningitis (disorder) disease_ontology DOID:10818 leptospiral meningitis true Aseptic leptospiral meningitis MTHICD9_2006:100.81 Aseptic leptospiral meningitis (disorder) SNOMEDCT_2005_07_31:25957002 Leptospiral meningitis (aseptic) ICD9CM_2006:100.81 Leptospiral meningitis (disorder) SNOMEDCT_2005_07_31:186956008 A filariasis that is a zoonotic infection caused by nematodes Dirofilaria immitis or Dirofilaria repens, which are transmitted to humans from dogs, cats, wolves and coyotes by infected mosquitoes. The disease manifests as either subcutaneous nodules or pulmonary lesions. ICD10CM:B74.8 MESH:D004184 SNOMEDCT_US_2016_03_01:73328005 UMLS_CUI:C0012602 Dirofilaria infectious disease Infection by Dirofilaria (disorder) disease_ontology DOID:1082 dirofilariasis A filariasis that is a zoonotic infection caused by nematodes Dirofilaria immitis or Dirofilaria repens, which are transmitted to humans from dogs, cats, wolves and coyotes by infected mosquitoes. The disease manifests as either subcutaneous nodules or pulmonary lesions. url:http://emedicine.medscape.com/article/236698-overview Dirofilaria infectious disease MTHICD9_2006:125.6 Infection by Dirofilaria (disorder) SNOMEDCT_2005_07_31:73328005 ICD9CM:401.0 NCI:C34802 SNOMEDCT_US_2016_03_01:1218009 SNOMEDCT_US_2016_03_01:78975002 UMLS_CUI:C0024588 Accelerated essential hypertension malignant Essential hypertension malignant essential hypertension (disorder) disease_ontology DOID:10823 malignant essential hypertension Accelerated essential hypertension SNOMEDCT_2005_07_31:1218009 malignant Essential hypertension NCI2004_11_17:C34802 malignant essential hypertension (disorder) SNOMEDCT_2005_07_31:78975002 MESH:D006974 NCI:C3118 SNOMEDCT_US_2016_03_01:155301003 SNOMEDCT_US_2016_03_01:286951002 SNOMEDCT_US_2016_03_01:70272006 UMLS_CUI:C0020540 disease_ontology DOID:10824 malignant hypertension A hypertension with no known cause. It is the most common type of hypertension. ICD10CM:I10 ICD9CM:401 ICD9CM:401.9 MESH:C562386 NCI:C3478 OMIM:145500 OMIM:603918 OMIM:604329 OMIM:607329 OMIM:608742 OMIM:610261 OMIM:610262 OMIM:610948 OMIM:611014 ORDO:243761 SNOMEDCT_US_2016_03_01:155296003 SNOMEDCT_US_2016_03_01:194757006 SNOMEDCT_US_2016_03_01:194760004 SNOMEDCT_US_2016_03_01:266228004 SNOMEDCT_US_2016_03_01:59621000 UMLS_CUI:C0085580 idiopathic hypertension primary hypertension disease_ontology DOID:10825 Xref MGI. OMIM mapping confirmed by DO. [SN]. essential hypertension A hypertension with no known cause. It is the most common type of hypertension. url:http://en.wikipedia.org/wiki/Essential_hypertension url:http://www.merckmanuals.com/professional/cardiovascular_disorders/hypertension/overview_of_hypertension.html idiopathic hypertension CSP2005:4003-0017 primary hypertension NCI2004_11_17:C3478 disease_ontology DOID:10827 gender identity disorder in adolescent or adult true ICD10CM:F65.3 ICD9CM:302.82 MESH:D014843 NCI:C94360 SNOMEDCT_US_2016_03_01:192515002 SNOMEDCT_US_2016_03_01:63835008 UMLS_CUI:C0042979 disease_ontology DOID:10834 voyeurism ICD9CM:608.84 SNOMEDCT_US_2016_03_01:7864001 UMLS_CUI:C0156315 disease_ontology DOID:10835 chylocele of tunica vaginalis disease_ontology DOID:10836 diabetes mellitus with hyperosmolarity true Diabetes mellitus, juvenile type with hyperosmolarity, not stated as uncontrolled Diabetes mellitus, type I [insulin dependent type] [IDDM] [juvenile type] with hyperosmolarity, not stated as uncontrolled disease_ontology DOID:10837 diabetes mellitus,insulin dependent type with hyperosmolarity, not stated as uncontrolled true Diabetes mellitus, juvenile type with hyperosmolarity, not stated as uncontrolled MTHICD9_2006:250.21 Diabetes mellitus, type I [insulin dependent type] [IDDM] [juvenile type] with hyperosmolarity, not stated as uncontrolled ICD9CM_2006:250.21 Diabetes mellitus, juvenile type with hyperosmolarity, uncontrolled Diabetes mellitus, type I [juvenile type] with hyperosmolarity, uncontrolled disease_ontology DOID:10838 diabetes mellitus, insulin dependent type with hyperosmolarity, uncontrolled true Diabetes mellitus, juvenile type with hyperosmolarity, uncontrolled MTHICD9_2006:250.23 Diabetes mellitus, type I [juvenile type] with hyperosmolarity, uncontrolled ICD9CM_2006:250.23 A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus, which is transmitted_by Aedes, transmitted_by Coquillettidia, and transmitted_by Culex species of mosquitoes. The infection has_symptom sudden onset of headache, has_symptom high fever, has_symptom chills, has_symptom vomiting, has_symptom disorientation, has_symptom seizures, and has_symptom coma. ICD10CM:A83.2 ICD9CM:062.2 MESH:D020242 SNOMEDCT_US_2016_03_01:40177004 SNOMEDCT_US_2016_03_01:416925005 SNOMEDCT_US_2016_03_01:417496004 UMLS_CUI:C0153065 Neuroinvasive Eastern equine encephalitis virus infection disease_ontology EEE DOID:10841 Eastern equine encephalitis A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus, which is transmitted_by Aedes, transmitted_by Coquillettidia, and transmitted_by Culex species of mosquitoes. The infection has_symptom sudden onset of headache, has_symptom high fever, has_symptom chills, has_symptom vomiting, has_symptom disorientation, has_symptom seizures, and has_symptom coma. url:http://www.cdc.gov/EasternEquineEncephalitis/index.html url:http://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm url:http://www.ncagr.gov/vet/FactSheets/EEE.htm Neuroinvasive Eastern equine encephalitis virus infection SNOMEDCT_2005_07_31:417496004 A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Murray Valley encephalitis virus, which is transmitted_by Culex annulirostris mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom drowsiness, has_symptom confusion, has_symptom fitting, and has_symptom weakness. ICD10CM:A83.4 ICD9CM:062.4 SNOMEDCT_US_2016_03_01:66454007 UMLS_CUI:C0153066 Australian X disease Australian encephalitis disease_ontology DOID:10842 Murray Valley encephalitis A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Murray Valley encephalitis virus, which is transmitted_by Culex annulirostris mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom drowsiness, has_symptom confusion, has_symptom fitting, and has_symptom weakness. url:http://www.health.gov.au/internet/main/Publishing.nsf/Content/health-arbovirus-pdf-fsmurrayvalley.htm url:http://www.ncbi.nlm.nih.gov/pubmed/13007862 Australian X disease MTHICD9_2006:062.4 Australian encephalitis ICD9CM_2006:062.4 A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Western equine encephalomyelitis virus, which is transmitted_by Culex and transmitted_by Aedes species of mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom anorexia, has_symptom malaise, has_symptom altered mental status, and has_symptom weakness. ICD10CM:A83.1 ICD9CM:062.1 MESH:D020241 NCI:C85227 SNOMEDCT_US_2016_03_01:47523006 UMLS_CUI:C0153064 disease_ontology WEE DOID:10843 Western equine encephalitis A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Western equine encephalomyelitis virus, which is transmitted_by Culex and transmitted_by Aedes species of mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom anorexia, has_symptom malaise, has_symptom altered mental status, and has_symptom weakness. url:http://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm A viral infectious disease that results_in infection located_in brain, has_material_basis_in Japanese encephalitis virus, which is transmitted_by Culex tritaeniorhynchus mosquito bite. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, and has_symptom spastic paralysis. ICD10CM:A83.0 ICD9CM:062.0 MESH:D004672 NCI:C34577 SNOMEDCT_US_2016_03_01:154345006 SNOMEDCT_US_2016_03_01:266194002 SNOMEDCT_US_2016_03_01:52947006 UMLS_CUI:C0014057 Japanese B encephalitis disease_ontology DOID:10844 Japanese encephalitis A viral infectious disease that results_in infection located_in brain, has_material_basis_in Japanese encephalitis virus, which is transmitted_by Culex tritaeniorhynchus mosquito bite. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, and has_symptom spastic paralysis. url:http://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm url:http://www.cdc.gov/ncidod/dvbid/jencephalitis/qa.htm Japanese B encephalitis MTHICD9_2006:062.0 A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in St. Louis encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions and has_symptom spastic paralysis. ICD10CM:A83.3 ICD9CM:062.3 MESH:D004674 SNOMEDCT_US_2016_03_01:10429004 SNOMEDCT_US_2016_03_01:417192005 SNOMEDCT_US_2016_03_01:417607009 UMLS_CUI:C0014060 Neuroinvasive St. Louis encephalitis virus infection disease_ontology DOID:10845 St. Louis encephalitis A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in St. Louis encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions and has_symptom spastic paralysis. url:http://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm url:http://www.cdc.gov/ncidod/dvbid/sle/Sle_FactSheet.html Neuroinvasive St. Louis encephalitis virus infection SNOMEDCT_2005_07_31:417607009 ICD9CM:569.84 SNOMEDCT_US_2016_03_01:235853006 SNOMEDCT_US_2016_03_01:32868004 UMLS_CUI:C0267367 disease_ontology DOID:10846 angiodysplasia of intestine disease_ontology DOID:10848 intrauterine hypoxia and birth asphyxia true ICD10CM:F65.51 ICD9CM:302.83 MESH:D008398 NCI:C94356 SNOMEDCT_US_2016_03_01:248104007 SNOMEDCT_US_2016_03_01:51239001 UMLS_CUI:C0036908 disease_ontology DOID:10849 sexual masochism ICD10CM:Q91.3 ICD9CM:758.2 MESH:C580500 NCI:C101362 SNOMEDCT_US_2016_03_01:157022000 SNOMEDCT_US_2016_03_01:205626006 SNOMEDCT_US_2016_03_01:254265001 SNOMEDCT_US_2016_03_01:51500006 UMLS_CUI:C0152096 Complete trisomy 18 syndrome (disorder) E3 Trisomy trisomy 18 disease_ontology DOID:1085 OMIM mapping confirmed by DO. [LS]. Edwards syndrome Complete trisomy 18 syndrome (disorder) SNOMEDCT_2005_07_31:51500006 E3 Trisomy NCI2004_11_17:C36626 A otitis media which is an expansile, inflammatory mass of granulation tissue in the middle ear. It is a foreign body reaction to cholesterol deposits that occur in obstructed fluid-filled air cells of the temporal bone. It is present with a conductive hearing loss and a blue eardrum. ICD9CM:385.82 NCI:C3655 SNOMEDCT_US_2016_03_01:28371001 UMLS_CUI:C0155492 Cholesterin granuloma Cholesterin granuloma of middle ear disease_ontology DOID:10852 middle ear cholesterol granuloma A otitis media which is an expansile, inflammatory mass of granulation tissue in the middle ear. It is a foreign body reaction to cholesterol deposits that occur in obstructed fluid-filled air cells of the temporal bone. It is present with a conductive hearing loss and a blue eardrum. url:http://books.google.com/books?id=ZjbGu_NasbcC&pg=RA1-PA75&lpg#v=onepage&q=&f=false url:http://www.ncbi.nlm.nih.gov/sites/entrez/16354369 Cholesterin granuloma SNOMEDCT_2005_07_31:28371001 Cholesterin granuloma of middle ear ICD9CM_2006:385.82 DOID:12898 ICD9CM:527.8 UMLS_CUI:C0029773 Non-neoplastic Salivary gland disease Salivary gland disease disease_ontology DOID:10854 salivary gland disease Non-neoplastic Salivary gland disease NCI2004_11_17:C27662 disease_ontology DOID:1086 congenital chromosomal disease true ICD10CM:H49 ICD10CM:H49.9 ICD9CM:378.5 ICD9CM:378.50 SNOMEDCT_US_2016_03_01:12942001 SNOMEDCT_US_2016_03_01:194117002 SNOMEDCT_US_2016_03_01:194120005 SNOMEDCT_US_2016_03_01:400942002 UMLS_CUI:C0152221 Incomitant dissociation Paralytic strabismus disease_ontology DOID:10863 paralytic squint Incomitant dissociation SNOMEDCT_2005_07_31:155195008 Paralytic strabismus ICD9CM_2006:378.5 ICD9CM:378.51 MESH:D015840 SNOMEDCT_US_2016_03_01:194118007 SNOMEDCT_US_2016_03_01:3171005 SNOMEDCT_US_2016_03_01:420289002 UMLS_CUI:C0271370 Partial third nerve palsy Third nerve palsy with pupil sparing Third or oculomotor nerve palsy, partial disease_ontology DOID:10864 partial third-nerve palsy Partial third nerve palsy SNOMEDCT_2005_07_31:3171005 Third nerve palsy with pupil sparing SNOMEDCT_2005_07_31:194118007 Third or oculomotor nerve palsy, partial ICD9CM_2006:378.51 ICD10CM:H49.2 ICD9CM:378.54 MESH:D020434 NCI:C27592 NCI:C27593 OMIM:100200 SNOMEDCT_US_2016_03_01:14720007 SNOMEDCT_US_2016_03_01:230533001 SNOMEDCT_US_2016_03_01:398760006 SNOMEDCT_US_2016_03_01:398925009 SNOMEDCT_US_2016_03_01:398963001 SNOMEDCT_US_2016_03_01:46587002 SNOMEDCT_US_2016_03_01:4892003 SNOMEDCT_US_2016_03_01:82373004 UMLS_CUI:C0271355 Abducens nerve disorder Abducens nerve weakness Lateral rectus muscle denervation paresis Lateral rectus muscle innervation disorder Sixth cranial nerve disorder, NOS Sixth nerve palsy (disorder) Sixth or abducens nerve palsy VIth nerve Paralysis VIth nerve disorder disorder of abducent nerve disease_ontology DOID:10865 abducens nerve disease Abducens nerve disorder SNOMEDCT_2005_07_31:398925009 Abducens nerve weakness SNOMEDCT_2005_07_31:398963001 Lateral rectus muscle denervation paresis SNOMEDCT_2005_07_31:398760006 Lateral rectus muscle denervation paresis SNOMEDCT_2005_07_31:46587002 Lateral rectus muscle innervation disorder SNOMEDCT_2005_07_31:4892003 Sixth cranial nerve disorder, NOS SNOMEDCT_2005_07_31:82373004 Sixth nerve palsy (disorder) SNOMEDCT_2005_07_31:14720007 Sixth or abducens nerve palsy ICD9CM_2006:378.54 VIth nerve Paralysis NCI2004_11_17:C27592 VIth nerve disorder NCI2004_11_17:C27593 disorder of abducent nerve SNOMEDCT_2005_07_31:230533001 ICD9CM:378.52 MESH:D015840 SNOMEDCT_US_2016_03_01:194119004 SNOMEDCT_US_2016_03_01:85522003 UMLS_CUI:C0271371 Third nerve palsy with pupil involved Third or oculomotor nerve palsy, total Total third nerve palsy disease_ontology DOID:10866 total third-nerve palsy Third nerve palsy with pupil involved SNOMEDCT_2005_07_31:194119004 Third or oculomotor nerve palsy, total ICD9CM_2006:378.52 Total third nerve palsy SNOMEDCT_2005_07_31:85522003 Fourth nerve palsy Fourth or trochlear nerve palsy disease_ontology DOID:10869 fourth cranial nerve palsy Fourth nerve palsy SNOMEDCT_2005_07_31:20610004 Fourth or trochlear nerve palsy ICD9CM_2006:378.53 A degeneration of macula and posterior pole that is characterized by a loss of vision in the center of the visual field (the macula) resulting from damage to the retina and resulting in blurring of the sharp central vision. EFO:0001365 ICD10CM:H35.30 ICD9CM:362.50 MESH:D008268 NCI:C84391 OMIM:PS603075 SNOMEDCT_US_2016_03_01:155112007 SNOMEDCT_US_2016_03_01:18222007 SNOMEDCT_US_2016_03_01:193384000 SNOMEDCT_US_2016_03_01:193385004 SNOMEDCT_US_2016_03_01:267718000 SNOMEDCT_US_2016_03_01:302891003 UMLS_CUI:C0242383 Senile macular degeneration Senile macular retinal degeneration age-related macular degeneration disease_ontology DOID:10871 OMIM mapping confirmed by DO. [SN]. age related macular degeneration A degeneration of macula and posterior pole that is characterized by a loss of vision in the center of the visual field (the macula) resulting from damage to the retina and resulting in blurring of the sharp central vision. url:http://en.wikipedia.org/wiki/Macular_degeneration url:http://www.nei.nih.gov/health/maculardegen/armd_facts.asp Senile macular degeneration SNOMEDCT_2005_07_31:193384000 Senile macular retinal degeneration SNOMEDCT_2005_07_31:302891003 ICD10CM:H35.32 ICD9CM:362.52 SNOMEDCT_US_2016_03_01:11290001 SNOMEDCT_US_2016_03_01:16018000 SNOMEDCT_US_2016_03_01:414173003 UMLS_CUI:C0271084 Exudative senile macular degeneration of retina Neovascular age-related macular degeneration Senile macular degeneration, wet Wet senile macular retinal degeneration disease_ontology DOID:10873 Kuhnt-Junius degeneration Exudative senile macular degeneration of retina ICD9CM_2006:362.52 Neovascular age-related macular degeneration SNOMEDCT_2005_07_31:414173003 Senile macular degeneration, wet MTHICD9_2006:362.52 Wet senile macular retinal degeneration SNOMEDCT_2005_07_31:16018000 LABOR PREMATURE Labour - premature Premature labor (finding) Premature labour premature labor disease_ontology DOID:10875 premature labor true LABOR PREMATURE MTH:NOCODE Labour - premature SNOMEDCT_2005_07_31:156118001 Labour - premature SNOMEDCT_2005_07_31:267310009 Premature labor (finding) SNOMEDCT_2005_07_31:6383007 Premature labour SNOMEDCT_2005_07_31:156120003 Premature labour SNOMEDCT_2005_07_31:199046005 premature labor CSP2005:2401-7840 disease_ontology DOID:10877 disorganized type schizophrenia chronic state with acute exacerbation true MESH:D008588 SNOMEDCT_US_2016_03_01:156890007 SNOMEDCT_US_2016_03_01:171131006 SNOMEDCT_US_2016_03_01:253121009 SNOMEDCT_US_2016_03_01:268308005 SNOMEDCT_US_2016_03_01:32941003 UMLS_CUI:C0025299 disease_ontology DOID:1088 meningocele ICD10CM:I80.21 ICD9CM:451.81 SNOMEDCT_US_2016_03_01:195429006 UMLS_CUI:C0155772 Phlebitis and thrombophlebitis of the iliac vein NOS (disorder) disease_ontology DOID:10880 iliac vein thrombophlebitis Phlebitis and thrombophlebitis of the iliac vein NOS (disorder) SNOMEDCT_2005_07_31:195429006 A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human coxsackievirus A16 or has_material_basis_in Human enterovirus 71, which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet. ICD10CM:B08.4 ICD9CM:074.3 MESH:D006232 SNOMEDCT_US_2016_03_01:154357002 SNOMEDCT_US_2016_03_01:175497008 SNOMEDCT_US_2016_03_01:186664000 SNOMEDCT_US_2016_03_01:266108008 SNOMEDCT_US_2016_03_01:67171006 UMLS_CUI:C0018572 Vesicular stomatitis and exanthem disease_ontology DOID:10881 hand, foot and mouth disease A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human coxsackievirus A16 or has_material_basis_in Human enterovirus 71, which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet. url:http://www.cdc.gov/ncidod/dvrd/revb/enterovirus/hfhf.htm Vesicular stomatitis and exanthem MTHICD9_2006:074.3 A viral infectious disease that results_in necrosis located_in intercostal muscle, has_material_basis_in Human enterovirus B. The infection has_symptom severe chest pain, has_symptom fever, has_symptom malaise, has_symptom pleuritis, and has_symptom headache. ICD10CM:B33.0 ICD9CM:074.1 MESH:D011000 SNOMEDCT_US_2016_03_01:154356006 SNOMEDCT_US_2016_03_01:83264000 UMLS_CUI:C0032238 Bamble disease Bornholm disease Epidemic pleurisy Epidemic, myositis devil's grip epidemic myalgia disease_ontology DOID:10882 epidemic pleurodynia A viral infectious disease that results_in necrosis located_in intercostal muscle, has_material_basis_in Human enterovirus B. The infection has_symptom severe chest pain, has_symptom fever, has_symptom malaise, has_symptom pleuritis, and has_symptom headache. url:http://emedicine.medscape.com/article/300049-overview Epidemic pleurisy SNOMEDCT_2005_07_31:154356006 Epidemic, myositis MTHICD9_2006:074.1 A viral infectious disease that results_in infection located_in mouth, has_material_basis_in Human coxsackievirus A16, has_material_basis_in Human enterovirus 71, has_material_basis_in group B coxsackievirus, or has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom sore throat, and has_symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars. ICD10CM:B08.5 ICD9CM:074.0 MESH:D006557 SNOMEDCT_US_2016_03_01:154358007 SNOMEDCT_US_2016_03_01:186659004 SNOMEDCT_US_2016_03_01:266197009 SNOMEDCT_US_2016_03_01:274102007 SNOMEDCT_US_2016_03_01:37428001 UMLS_CUI:C0019338 Vesicular pharyngitis disease_ontology DOID:10883 herpangina A viral infectious disease that results_in infection located_in mouth, has_material_basis_in Human coxsackievirus A16, has_material_basis_in Human enterovirus 71, has_material_basis_in group B coxsackievirus, or has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom sore throat, and has_symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars. url:http://emedicine.medscape.com/article/218502-overview url:http://en.wikipedia.org/wiki/Herpangina url:http://www.nlm.nih.gov/medlineplus/ency/article/000969.htm Vesicular pharyngitis MTHICD9_2006:074.0 A leprosy that results in early cutaneous lesions which consist of pale macules that are small, diffuse, and symmetric. This form of leprosy is characterized by hypoesthesia over extensor surfaces of the distal extremities, alopecia affecting lateral aspects of the eyebrows, saddle-nose deformity and oral lepromas. ICD10CM:A30.5 ICD9CM:030.0 MESH:D015440 SNOMEDCT_US_2016_03_01:21560005 UMLS_CUI:C0023348 Lepromatous leprosy (disorder) Lepromatous leprosy [type L] type L leprosy disease_ontology DOID:10887 lepromatous leprosy A leprosy that results in early cutaneous lesions which consist of pale macules that are small, diffuse, and symmetric. This form of leprosy is characterized by hypoesthesia over extensor surfaces of the distal extremities, alopecia affecting lateral aspects of the eyebrows, saddle-nose deformity and oral lepromas. url:http://emedicine.medscape.com/article/1104977-clinical#a0217 Lepromatous leprosy (disorder) SNOMEDCT_2005_07_31:21560005 Lepromatous leprosy [type L] ICD9CM_2006:030.0 type L leprosy MTHICD9_2006:030.0 ICD10CM:Q05 ICD10CM:Q05.9 ICD9CM:741 MESH:D016135 NCI:C101214 SNOMEDCT_US_2016_03_01:156888006 SNOMEDCT_US_2016_03_01:204017003 SNOMEDCT_US_2016_03_01:67531005 UMLS_CUI:C0080178 spinal dysraphism disease_ontology DOID:1089 OMIM mapping confirmed by DO. [LS]. tethered spinal cord syndrome A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum. ICD10CM:Q54 ICD10CM:Q54.9 MESH:D007021 NCI:C40341 OMIM:146450 OMIM:300633 OMIM:300758 OMIM:300856 ORDO:440 SNOMEDCT_US_2016_03_01:416010008 UMLS_CUI:C0848558 familial hypospadias disease_ontology DOID:10892 Xref MGI. OMIM mapping confirmed by DO. [SN]. hypospadias A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum. url:http://en.wikipedia.org/wiki/Hypospadias url:http://ghr.nlm.nih.gov/glossary=hypospadias Leukemic reticuloendotheliosis involving lymph nodes of axilla and upper limb Leukemic reticuloendotheliosis of lymph nodes of axilla and upper limb (disorder) Leukemic reticuloendotheliosis of lymph nodes of axilla and/or upper limb (disorder) disease_ontology DOID:10901 leukemic reticuloendotheliosis of lymph nodes of axilla and upper limb true Leukemic reticuloendotheliosis involving lymph nodes of axilla and upper limb ICD9CM_2006:202.44 Leukemic reticuloendotheliosis of lymph nodes of axilla and upper limb (disorder) SNOMEDCT_2005_07_31:188648000 Leukemic reticuloendotheliosis of lymph nodes of axilla and/or upper limb (disorder) SNOMEDCT_2005_07_31:93147005 An actinomycosis that results_in infection, has_material_basis_in Actinomyces israelii or has_material_basis_in Actinomyces gerencseriae. It results in lung cavities, lung nodules, and pleural effusion. The infection has_symptom chest pain, has_symptom cough with sputum, has_symptom fever, has_symptom lethargy, has_symptom night sweats, has_symptom shortness of breath, has_symptom weight loss, and has_symptom draining of sinuses. pulmonary actinomycotic infection thoracic actinomycosis disease_ontology DOID:10902 pulmonary actinomycosis true An actinomycosis that results_in infection, has_material_basis_in Actinomyces israelii or has_material_basis_in Actinomyces gerencseriae. It results in lung cavities, lung nodules, and pleural effusion. The infection has_symptom chest pain, has_symptom cough with sputum, has_symptom fever, has_symptom lethargy, has_symptom night sweats, has_symptom shortness of breath, has_symptom weight loss, and has_symptom draining of sinuses. url:http://www.nlm.nih.gov/medlineplus/ency/article/000074.htm pulmonary actinomycotic infection ICD9CM_2006:039.1 ICD10CM:Q02 ICD9CM:742.1 MESH:D008831 NCI:C85874 OMIM:251200 OMIM:604321 OMIM:604804 OMIM:608393 OMIM:608716 OMIM:612703 SNOMEDCT_US_2016_03_01:156893009 SNOMEDCT_US_2016_03_01:1829003 SNOMEDCT_US_2016_03_01:204030002 SNOMEDCT_US_2016_03_01:204031003 UMLS_CUI:C0025958 Microcephalus microencephaly disease_ontology DOID:10907 OMIM mapping confirmed by DO. [SN]. microcephaly Microcephalus ICD9CM_2006:742.1 microencephaly CSP2005:0723-5649 A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head. ICD10CM:G91 ICD10CM:G91.9 MESH:D006849 NCI:C3111 OMIM:123155 OMIM:236600 OMIM:236635 OMIM:307000 OMIM:615219 ORDO:2182 ORDO:2185 SNOMEDCT_US_2016_03_01:154995000 SNOMEDCT_US_2016_03_01:154997008 SNOMEDCT_US_2016_03_01:192807008 SNOMEDCT_US_2016_03_01:230745008 SNOMEDCT_US_2016_03_01:267687006 UMLS_CUI:C0020255 hydrocephalus, X-linked hydrocephalus, nonsyndromic, autosomal recessive disease_ontology DOID:10908 Xref MGI. OMIM mapping confirmed by DO. [SN]. hydrocephalus A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head. url:http://en.wikipedia.org/wiki/Hydrocephalus url:http://ghr.nlm.nih.gov/glossary=hydrocephalus url:http://www.mayoclinic.org/diseases-conditions/hydrocephalus/basics/definition/con-20030706?_ga=1.124310025.2017809229.1415219956 hydrocephalus, X-linked MESH:C536078 hydrocephalus, nonsyndromic, autosomal recessive OMIM:236600 MESH:D014076 SNOMEDCT_US_2016_03_01:155631000 SNOMEDCT_US_2016_03_01:234947003 SNOMEDCT_US_2016_03_01:266485001 SNOMEDCT_US_2016_03_01:367503003 SNOMEDCT_US_2016_03_01:72722003 UMLS_CUI:C0040435 dental disorder disease_ontology DOID:1091 tooth disease dental disorder CSP2005:0828-0533 A coxsackie meningitis that results_in inflammation located_in meningeal cluster, has_material_basis_in Human echovirus 30, or has_material_basis_in Human echovirus 9, which is transmitted_by ingestion of food contaminated with feces, transmitted_by droplet spread of oronasal secretions from infected person, or transmitted_by contaminated fomites. The infection has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom headache, has_symptom photophobia and has_symptom neck stiffness. disease_ontology DOID:10910 echovirus meningitis true A coxsackie meningitis that results_in inflammation located_in meningeal cluster, has_material_basis_in Human echovirus 30, or has_material_basis_in Human echovirus 9, which is transmitted_by ingestion of food contaminated with feces, transmitted_by droplet spread of oronasal secretions from infected person, or transmitted_by contaminated fomites. The infection has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom headache, has_symptom photophobia and has_symptom neck stiffness. url:http://www.cdc.gov/mmwr/preview/mmwrhtml/mm5232a1.htm url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2563715/pdf/60.pdf An Enterovirus infectious disease that results_in infection located_in gastrointestinal tract, or located_in skin, has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by droplet spread of oronasal secretions from infected person, or transmitted_by contaminated fomites. disease_ontology Enteric cytopathic human orphan virus infection DOID:10911 echovirus infectious disease true An Enterovirus infectious disease that results_in infection located_in gastrointestinal tract, or located_in skin, has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by droplet spread of oronasal secretions from infected person, or transmitted_by contaminated fomites. url:http://en.wikipedia.org/wiki/Echovirus ICD9CM:401.1 NCI:C3656 SNOMEDCT_US_2016_03_01:1201005 SNOMEDCT_US_2016_03_01:194758001 UMLS_CUI:C0155583 benign Essential hypertension benign essential hypertension (disorder) disease_ontology DOID:10913 benign essential hypertension benign Essential hypertension NCI2004_11_17:C3656 benign essential hypertension (disorder) SNOMEDCT_2005_07_31:1201005 A cognitive disorder where the memory is disturbed or lost and involves the loss of memories previously established, loss of the ability to create new memories, or loss of the ability to learn new information. DOID:4544 ICD10CM:R41.3 ICD9CM:294.0 MESH:D000647 NCI:C2867 SNOMEDCT_US_2016_03_01:162199006 SNOMEDCT_US_2016_03_01:247606008 SNOMEDCT_US_2016_03_01:3298001 SNOMEDCT_US_2016_03_01:386807006 SNOMEDCT_US_2016_03_01:48167000 SNOMEDCT_US_2016_03_01:78461004 UMLS_CUI:C0002622 UMLS_CUI:C0002625 Amnestic syndrome Korsakoff's psychosis or syndrome amnesia disease_ontology DOID:10914 amnestic disorder A cognitive disorder where the memory is disturbed or lost and involves the loss of memories previously established, loss of the ability to create new memories, or loss of the ability to learn new information. url:http://en.wikipedia.org/wiki/Amnesia url:http://www.minddisorders.com/A-Br/Amnestic-disorders.html Amnestic syndrome NCI2004_11_17:C35764 Korsakoff's psychosis or syndrome MTHICD9_2006:294.0 MESH:D020915 NCI:C35764 NCI:C84803 OMIM:277730 SNOMEDCT_US_2016_03_01:154854002 SNOMEDCT_US_2016_03_01:191470004 SNOMEDCT_US_2016_03_01:191472007 SNOMEDCT_US_2016_03_01:268745002 SNOMEDCT_US_2016_03_01:69482004 UMLS_CUI:C0349464 Korsakoff Syndrome Korsakoff's psychosis (disorder) Korsakoff's syndrome Korsakov psychosis Korsakov's psychosis disease_ontology DOID:10915 OMIM mapping confirmed by DO. [LS]. Wernicke-Korsakoff syndrome Korsakoff's psychosis (disorder) SNOMEDCT_2005_07_31:69482004 Korsakoff's syndrome CSP2005:2042-6017 Korsakov psychosis SNOMEDCT_2005_07_31:191470004 Korsakov's psychosis SNOMEDCT_2005_07_31:268745002 Trans-sexualism with asexual history Transsexuality with asexual history (disorder) disease_ontology DOID:10918 transsexuality with asexual history true Trans-sexualism with asexual history ICD9CM_2006:302.51 Transsexuality with asexual history (disorder) SNOMEDCT_2005_07_31:191783002 A gender identity disorder that is characterized by an individual's identification with a gender inconsistent or not culturally associated with their biological sex. ICD9CM:302.50 SNOMEDCT_US_2016_03_01:191782007 UMLS_CUI:C0040630 disease_ontology DOID:10919 transsexualism A gender identity disorder that is characterized by an individual's identification with a gender inconsistent or not culturally associated with their biological sex. url:http://en.wikipedia.org/wiki/Transsexualism A spotted fever that has_material_basis_in Rickettsia sibirica, which is transmitted_by ticks (Dermacentor nuttalli, Dermacentor marginatus and Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash. DOID:0050054 DOID:0050055 ICD10CM:A77.2 ICD9CM:082.2 SNOMEDCT_US_2016_03_01:186781003 SNOMEDCT_US_2016_03_01:186782005 SNOMEDCT_US_2016_03_01:186783000 SNOMEDCT_US_2016_03_01:7692008 UMLS_CUI:C0549160 North Asian tick fever North Asian tick fever (disorder) [Ambiguous] North Asian tick fever NOS (disorder) North Asian tick typhus (disorder) Rickettsia sibirica spotted fever Siberian tick typhus (disorder) manchurian typhus disease_ontology DOID:10921 Siberian tick typhus A spotted fever that has_material_basis_in Rickettsia sibirica, which is transmitted_by ticks (Dermacentor nuttalli, Dermacentor marginatus and Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash. url:http://cmr.asm.org/cgi/content/full/18/4/719#%27%27Rickettsia_sibirica_subsp._sibirica%27%27_%28Siberian_tick_typhus_or_North_Asian_tick_typhus%29 url:http://www.cdc.gov/otherspottedfever/index.html North Asian tick fever ICD9CM_2006:082.2 North Asian tick fever (disorder) [Ambiguous] SNOMEDCT_2005_07_31:7692008 North Asian tick fever NOS (disorder) SNOMEDCT_2005_07_31:186783000 North Asian tick typhus (disorder) SNOMEDCT_2005_07_31:186781003 Siberian tick typhus (disorder) SNOMEDCT_2005_07_31:186782005 Hb-S disease with mention of crisis Hemoglobin S disease with crisis (disorder) Hemoglobin SS disease with crisis (disorder) Sickle cell anemia with crisis (disorder) sickle cell crisis disease_ontology DOID:10922 sickle-cell crisis true Hb-S disease with mention of crisis ICD9CM_2006:282.62 Hemoglobin S disease with crisis (disorder) SNOMEDCT_2005_07_31:72279006 Hemoglobin SS disease with crisis (disorder) SNOMEDCT_2005_07_31:417425009 Sickle cell anemia with crisis (disorder) SNOMEDCT_2005_07_31:191197002 sickle cell crisis CSP2005:1418-5715 DOID:12924 DOID:13024 ICD10CM:D57 ICD10CM:D57.1 ICD10CM:D57.2 ICD10CM:D57.20 ICD9CM:282.6 ICD9CM:282.60 ICD9CM:282.63 MESH:D000755 MESH:D006450 NCI:C34383 NCI:C34676 OMIM:603903 SNOMEDCT_US_2016_03_01:127040003 SNOMEDCT_US_2016_03_01:154798006 SNOMEDCT_US_2016_03_01:191194009 SNOMEDCT_US_2016_03_01:191195005 SNOMEDCT_US_2016_03_01:191199004 SNOMEDCT_US_2016_03_01:276267006 SNOMEDCT_US_2016_03_01:35434009 SNOMEDCT_US_2016_03_01:417357006 SNOMEDCT_US_2016_03_01:80046004 UMLS_CUI:C0002895 UMLS_CUI:C0019034 Hb SC disease Hb-S/Hb-C disease Hb-SS disease without crisis Hemoglobin S disease without crisis (disorder) Sickle-cell/Hb-C disease without crisis drepanocytosis hemoglobin SC disease disease_ontology DOID:10923 OMIM mapping confirmed by DO. [LS]. sickle cell anemia Hb SC disease SNOMEDCT_2005_07_31:35434009 Hb-S/Hb-C disease MTHICD9_2006:282.63 Hemoglobin S disease without crisis (disorder) SNOMEDCT_2005_07_31:21976009 Sickle-cell/Hb-C disease without crisis ICD9CM_2006:282.63 disease_ontology DOID:10924 catatonic type schizophrenia chronic state true disease_ontology DOID:10925 catatonic schizophrenia true DOID:10926 DOID:10928 DOID:10929 DOID:12230 DOID:12232 DOID:14085 DOID:14137 DOID:9522 DOID:9523 DOID:9524 ICD10CM:K28.0 ICD9CM:534.0 SNOMEDCT_US_2016_03_01:196709002 SNOMEDCT_US_2016_03_01:63954007 UMLS_CUI:C0156042 acute gastrojejunal ulcer with hemorrhage acute gastrojejunal ulcer with hemorrhage AND obstruction acute gastrojejunal ulcer with hemorrhage AND obstruction (disorder) acute gastrojejunal ulcer with hemorrhage AND perforation acute gastrojejunal ulcer with hemorrhage and perforation, with obstruction acute gastrojejunal ulcer with hemorrhage, with perforation AND with obstruction (disorder) acute gastrojejunal ulcer with perforation acute gastrojejunal ulcer with perforation AND obstruction acute gastrojejunal ulcer with perforation AND obstruction (disorder) acute gastrojejunal ulcer with perforation, with obstruction acute gastrojejunal ulcer without hemorrhage AND without perforation acute gastrojejunal ulcer without hemorrhage, without perforation AND without obstruction acute gastrojejunal ulcer without hemorrhage, without perforation AND without obstruction (disorder) acute gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction acute gastrojejunal ulcer, with hemorrhage, with obstruction chronic gastrojejunal ulcer without hemorrhage AND without perforation chronic gastrojejunal ulcer without hemorrhage, without perforation AND without obstruction chronic gastrojejunal ulcer without hemorrhage, without perforation AND without obstruction (disorder) chronic gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction disease_ontology DOID:10927 gastrojejunal ulcer acute gastrojejunal ulcer with hemorrhage AND obstruction (disorder) SNOMEDCT_2005_07_31:72408002 acute gastrojejunal ulcer with hemorrhage, with perforation AND with obstruction (disorder) SNOMEDCT_2005_07_31:58711008 acute gastrojejunal ulcer with perforation AND obstruction (disorder) SNOMEDCT_2005_07_31:72219001 acute gastrojejunal ulcer with perforation, with obstruction ICD9CM_2006:534.11 acute gastrojejunal ulcer without hemorrhage, without perforation AND without obstruction (disorder) SNOMEDCT_2005_07_31:77987006 acute gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction ICD9CM_2006:534.30 acute gastrojejunal ulcer, with hemorrhage, with obstruction ICD9CM_2006:534.01 chronic gastrojejunal ulcer without hemorrhage, without perforation AND without obstruction (disorder) SNOMEDCT_2005_07_31:41626001 chronic gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction ICD9CM_2006:534.70 A personality disorder that involves a prolonged disturbance of personality function characterized by depth and variability of moods. ICD10CM:F60.3 ICD9CM:301.83 MESH:D001883 NCI:C92633 SNOMEDCT_US_2016_03_01:192488005 SNOMEDCT_US_2016_03_01:20010003 UMLS_CUI:C0006012 disease_ontology DOID:10930 borderline personality disorder A personality disorder that involves a prolonged disturbance of personality function characterized by depth and variability of moods. url:http://en.wikipedia.org/wiki/Borderline_personality_disorder A personality disorder that is characterized by a pervasive psychological dependence on other people. ICD10CM:F60.7 ICD9CM:301.6 MESH:D003859 NCI:C92637 SNOMEDCT_US_2016_03_01:191768007 SNOMEDCT_US_2016_03_01:192492003 SNOMEDCT_US_2016_03_01:84466009 UMLS_CUI:C0011548 disease_ontology DOID:10931 dependent personality disorder A personality disorder that is characterized by a pervasive psychological dependence on other people. url:http://en.wikipedia.org/wiki/Dependent_personality_disorder A personality disorder that is characterized by a pervasive pattern of preoccupation with orderliness, perfectionism, and mental and interpersonal control at the expense of flexibility, openness, and efficiency. ICD10CM:F60.5 ICD9CM:301.4 MESH:D003193 NCI:C92638 SNOMEDCT_US_2016_03_01:112091009 SNOMEDCT_US_2016_03_01:1376001 SNOMEDCT_US_2016_03_01:154899005 SNOMEDCT_US_2016_03_01:191760000 SNOMEDCT_US_2016_03_01:191761001 SNOMEDCT_US_2016_03_01:191762008 SNOMEDCT_US_2016_03_01:192490006 SNOMEDCT_US_2016_03_01:271200007 UMLS_CUI:C0009595 OCPD disease_ontology Anankastic personality disorder Obsessional personality DOID:10932 obsessive-compulsive personality disorder A personality disorder that is characterized by a pervasive pattern of preoccupation with orderliness, perfectionism, and mental and interpersonal control at the expense of flexibility, openness, and efficiency. url:http://en.wikipedia.org/wiki/Obsessive%E2%80%93compulsive_personality_disorder Anankastic personality disorder SNOMEDCT_2005_07_31:191762008 Obsessional personality MTHICD9_2006:301.4 An anxiety disorder that involves unwanted and repeated thoughts, feelings, ideas, sensations (obsessions), or behaviors that make them feel driven to do something (compulsions). ICD10CM:F42 ICD9CM:300.3 MESH:D009771 NCI:C88411 SNOMEDCT_US_2016_03_01:191736004 SNOMEDCT_US_2016_03_01:191739006 SNOMEDCT_US_2016_03_01:192406007 SNOMEDCT_US_2016_03_01:192411009 SNOMEDCT_US_2016_03_01:71478004 UMLS_CUI:C0028768 Anancastic neurosis obsessive compulsive disorder disease_ontology DOID:10933 obsessive-compulsive disorder An anxiety disorder that involves unwanted and repeated thoughts, feelings, ideas, sensations (obsessions), or behaviors that make them feel driven to do something (compulsions). url:http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001926/ Anancastic neurosis MTHICD9_2006:300.3 A dissociative disorder that involves the simultaneous display of multiple distinct identities or personalities. ICD10CM:F44.81 ICD9CM:300.14 MESH:D009105 NCI:C94330 SNOMEDCT_US_2016_03_01:192428007 SNOMEDCT_US_2016_03_01:31611000 UMLS_CUI:C0026773 Dissociative identity disorder disease_ontology DOID:10934 multiple personality disorder A dissociative disorder that involves the simultaneous display of multiple distinct identities or personalities. url:http://en.wikipedia.org/wiki/Dissociative_identity_disorder Dissociative identity disorder ICD9CM_2006:300.14 A disease of mental health in which the normally well-integrated functions of memory, identity, perception, or consciousness are separated (dissociated). DOID:4963 ICD10CM:F44.9 ICD10CM:F48.9 ICD9CM:300.15 ICD9CM:300.9 MESH:D004213 NCI:C92197 SNOMEDCT_US_2016_03_01:154883004 SNOMEDCT_US_2016_03_01:44376007 UMLS_CUI:C0012746 UMLS_CUI:C0041857 dissociative disease dissociative reaction disease_ontology DOID:10935 dissociative disorder A disease of mental health in which the normally well-integrated functions of memory, identity, perception, or consciousness are separated (dissociated). url:http://www.minddisorders.com/Del-Fi/Dissociative-amnesia.html dissociative reaction CSP2005:2483-7018 A personality disorder that is characterized by a lack of interest in social relationships, a tendency towards a solitary lifestyle, secretiveness, emotional coldness and sometimes sexual apathy, with a simultaneous rich, elaborate and exclusively internal fantasy world. ICD10CM:F60.1 ICD9CM:301.2 ICD9CM:301.20 MESH:D012557 NCI:C92631 SNOMEDCT_US_2016_03_01:191756003 SNOMEDCT_US_2016_03_01:191758002 SNOMEDCT_US_2016_03_01:192486009 SNOMEDCT_US_2016_03_01:52954000 UMLS_CUI:C0036339 disease_ontology DOID:10936 schizoid personality disorder A personality disorder that is characterized by a lack of interest in social relationships, a tendency towards a solitary lifestyle, secretiveness, emotional coldness and sometimes sexual apathy, with a simultaneous rich, elaborate and exclusively internal fantasy world. url:http://en.wikipedia.org/wiki/Schizoid_personality_disorder A disease of mental health that involves a failure to resist an impulsive act or behaviour that may be harmful to self or others. ICD10CM:F63.9 ICD9CM:312.30 MESH:D007174 NCI:C34723 SNOMEDCT_US_2016_03_01:192095006 SNOMEDCT_US_2016_03_01:192098008 SNOMEDCT_US_2016_03_01:66347000 UMLS_CUI:C0021122 disease_ontology DOID:10937 impulse control disorder A disease of mental health that involves a failure to resist an impulsive act or behaviour that may be harmful to self or others. url:http://www.forensicpsychiatry.ca/impulse/overview.htm A personality disorder that is characterized by paranoia and a pervasive, long-standing suspiciousness and generalized mistrust of others. ICD10CM:F60.0 ICD9CM:301.0 MESH:D010260 NCI:C92630 SNOMEDCT_US_2016_03_01:13601005 SNOMEDCT_US_2016_03_01:154896003 SNOMEDCT_US_2016_03_01:191750009 SNOMEDCT_US_2016_03_01:192485008 SNOMEDCT_US_2016_03_01:270529002 UMLS_CUI:C0030477 disease_ontology DOID:10938 paranoid personality disorder A personality disorder that is characterized by paranoia and a pervasive, long-standing suspiciousness and generalized mistrust of others. url:http://en.wikipedia.org/wiki/Paranoid_personality_disorder A personality disorder that involves a pervasive pattern of disregard for, and violation of, the rights of others that begins in childhood or early adolescence and continues into adulthood. ICD10CM:F60.2 ICD9CM:301.7 MESH:D000987 NCI:C88413 SNOMEDCT_US_2016_03_01:191769004 SNOMEDCT_US_2016_03_01:191777000 SNOMEDCT_US_2016_03_01:192487000 SNOMEDCT_US_2016_03_01:26665006 SNOMEDCT_US_2016_03_01:268759009 UMLS_CUI:C0003431 Asocial personality Dissocial personality disorder Psychopath.personality Psychopathic personality Psychopathic personality disorder sociopathic personality disease_ontology DOID:10939 antisocial personality disorder A personality disorder that involves a pervasive pattern of disregard for, and violation of, the rights of others that begins in childhood or early adolescence and continues into adulthood. url:http://en.wikipedia.org/wiki/Antisocial_personality_disorder Asocial personality MTHICD9_2006:301.7 Dissocial personality disorder SNOMEDCT_2005_07_31:192487000 Psychopath.personality SNOMEDCT_2005_07_31:268759009 Psychopathic personality SNOMEDCT_2005_07_31:191777000 Psychopathic personality disorder MTHICD9_2006:301.9 sociopathic personality CSP2005:2483-7185 A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone" and symptoms starting before seven years of age. DOID:1093 EFO:0003888 ICD9CM:314.8 MESH:D001289 NCI:C35092 OMIM:143465 OMIM:608903 OMIM:608904 OMIM:608905 OMIM:608906 OMIM:612311 OMIM:612312 OMIM:613003 UMLS_CUI:C0041671 UMLS_CUI:C0154629 ADHD attention deficit disorder hyperkinetic disorder disease_ontology DOID:1094 Xref MGI. attention deficit hyperactivity disorder A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone" and symptoms starting before seven years of age. url:http://en.wikipedia.org/wiki/Attention-Deficit_Hyperactivity_Disorder EFO:0003870 MESH:D002532 NCI:C34458 SNOMEDCT_US_2016_03_01:128609009 SNOMEDCT_US_2016_03_01:42994005 UMLS_CUI:C0007766 brain aneurysm disease_ontology DOID:10941 intracranial aneurysm ICD10CM:K14 ICD10CM:K14.9 ICD9CM:529.9 MESH:D014060 SNOMEDCT_US_2016_03_01:155533008 SNOMEDCT_US_2016_03_01:155665004 SNOMEDCT_US_2016_03_01:155667007 SNOMEDCT_US_2016_03_01:196595001 SNOMEDCT_US_2016_03_01:266496009 SNOMEDCT_US_2016_03_01:69244009 UMLS_CUI:C0040409 disease_ontology DOID:10944 tongue disease A kidney disease that is characterized by an inflammation of the kidneys. ICD10CM:N05 ICD10CM:N08 MESH:D009393 NCI:C26833 SNOMEDCT_US_2016_03_01:155853001 SNOMEDCT_US_2016_03_01:266615001 SNOMEDCT_US_2016_03_01:274107001 SNOMEDCT_US_2016_03_01:52845002 UMLS_CUI:C0027697 disease_ontology DOID:10952 nephritis A kidney disease that is characterized by an inflammation of the kidneys. url:url:https://en.wikipedia.org/wiki/Nephritis A parasitic helminthiasis infectious disease that involves infection of the intestine, lungs, skin and central nervous system with nematode Strongyloides stercoralis. DOID:0050008 ICD10CM:B78 ICD10CM:B78.9 ICD9CM:127.2 MESH:D013322 SNOMEDCT_US_2016_03_01:1214006 SNOMEDCT_US_2016_03_01:187177001 SNOMEDCT_US_2016_03_01:187537002 UMLS_CUI:C0038463 Infection by Strongyloides (disorder) disseminated strongyloidiasis disease_ontology DOID:10955 strongyloidiasis A parasitic helminthiasis infectious disease that involves infection of the intestine, lungs, skin and central nervous system with nematode Strongyloides stercoralis. url:http://en.wikipedia.org/wiki/Strongyloidiasis url:http://www.dpd.cdc.gov/dpdx/HTML/Strongyloidiasis.htm Infection by Strongyloides (disorder) SNOMEDCT_2005_07_31:1214006 An intestinal infectious disease that involves infection of the intestine by nosocomial bacterium Enterobacter aerogenes, which results in formation of ulcers. intestinal infection due to aerobacter aerogenes disease_ontology DOID:10957 Enterobacter aerogenes intestinal infectious disease true An intestinal infectious disease that involves infection of the intestine by nosocomial bacterium Enterobacter aerogenes, which results in formation of ulcers. url:http://emedicine.medscape.com/article/216845-overview intestinal infection due to aerobacter aerogenes ICD9CM_2006:008.2 A Salmonella infectious disease that involves infection of the intestine caused by Salmonella enterica subsp arizonae, which is a gut inhabitant of reptiles. The symptoms include fever, headache, abdominal pain, vomiting, and diarrhea. intestinal infectious disease due to arizona group of paracolon bacilli disease_ontology DOID:10958 Salmonella arizonae intestinal infectious disease true A Salmonella infectious disease that involves infection of the intestine caused by Salmonella enterica subsp arizonae, which is a gut inhabitant of reptiles. The symptoms include fever, headache, abdominal pain, vomiting, and diarrhea. url:http://www.ncbi.nlm.nih.gov/sites/entrez/14662995 A primary bacterial infectious disease that involves infection of the intestine by the bacterium Escherichia coli, caused by consumption of contaminated food and water. Some strains of Escherichia coli produce Shiga toxin, which cause severe illness. The symptoms include severe stomach cramps, fever, diarrhea (sometimes bloody), and vomiting. intestinal infectious disease due to Escherichia coli disease_ontology DOID:10959 Escherichia coli intestinal infectious disease true A primary bacterial infectious disease that involves infection of the intestine by the bacterium Escherichia coli, caused by consumption of contaminated food and water. Some strains of Escherichia coli produce Shiga toxin, which cause severe illness. The symptoms include severe stomach cramps, fever, diarrhea (sometimes bloody), and vomiting. url:http://www.cdc.gov/nczved/divisions/dfbmd/diseases/ecoli_o157h7/index.html url:http://www.who.int/mediacentre/factsheets/fs125/en/ ICD10CM:H71.0 ICD10CM:H71.00 ICD9CM:385.31 SNOMEDCT_US_2016_03_01:38708003 UMLS_CUI:C0155489 disease_ontology DOID:10963 cholesteatoma of attic DOID:11433 ICD10CM:H71 ICD9CM:385.3 ICD9CM:385.32 ICD9CM:385.33 MESH:D018424 NCI:C3654 SNOMEDCT_US_2016_03_01:194339007 SNOMEDCT_US_2016_03_01:194340009 SNOMEDCT_US_2016_03_01:360584008 SNOMEDCT_US_2016_03_01:39911004 SNOMEDCT_US_2016_03_01:87688009 UMLS_CUI:C0008374 UMLS_CUI:C0155490 Cholesteatoma of middle ear Cholesteatoma of middle ear (disorder) Cholesteatoma of middle ear and mastoid Cholesteatoma of middle ear and/or mastoid Cholesteatoma of the middle ear Epidermosis of ear Epidermosis of middle ear Unspecified cholesteatoma (morphologic abnormality) middle ear cholesteatoma disease_ontology DOID:10964 cholesteatoma of middle ear Cholesteatoma of middle ear ICD9CM_2006:385.32 Cholesteatoma of middle ear (disorder) SNOMEDCT_2005_07_31:87688009 Cholesteatoma of middle ear and mastoid ICD9CM_2006:385.33 Cholesteatoma of middle ear and/or mastoid SNOMEDCT_2005_07_31:39911004 Cholesteatoma of the middle ear NCI2004_11_17:C3654 Epidermosis of ear MTHICD9_2006:385.3 Epidermosis of middle ear SNOMEDCT_2005_07_31:39911004 Unspecified cholesteatoma (morphologic abnormality) SNOMEDCT_2005_07_31:194338004 A spastic cerebral palsy that affects lower extremities resulting in tight leg and hip muscles. The legs cross at the knees, making it difficult to walk. DOID:3778 ICD10CM:G80.1 ICD9CM:343.0 MESH:D002547 NCI:C34781 SNOMEDCT_US_2016_03_01:1178005 SNOMEDCT_US_2016_03_01:192947000 SNOMEDCT_US_2016_03_01:275469001 SNOMEDCT_US_2016_03_01:281411007 UMLS_CUI:C0023882 UMLS_CUI:C0154695 Diplegic infantile cerebral palsy Infantile spastic cerebral palsy Little's disease Littles disease cerebral spastic infantile paralysis infantile diplegic cerebral palsy disease_ontology DOID:10965 spastic diplegia A spastic cerebral palsy that affects lower extremities resulting in tight leg and hip muscles. The legs cross at the knees, making it difficult to walk. url:http://www.cerebralpalsy.org/types-of-cerebral-palsy/#ataxic Diplegic infantile cerebral palsy ICD9CM_2006:343.0 Infantile spastic cerebral palsy SNOMEDCT_2005_07_31:1178005 Littles disease SNOMEDCT_2005_07_31:192947000 cerebral spastic infantile paralysis CSP2005:0723-4729 ICD10CM:N04 MESH:D009402 NCI:C34844 SNOMEDCT_US_2016_03_01:197592009 SNOMEDCT_US_2016_03_01:44785005 UMLS_CUI:C0027721 Minimal Change Glomerulonephritis Minimal change disease Nephrotic syndrome with lesion of minimal change glomerulonephritis Nephrotic syndrome with lesion of minimal change nephrotic syndrome disease_ontology DOID:10966 lipoid nephrosis Minimal Change Glomerulonephritis NCI2004_11_17:C34844 Minimal change disease SNOMEDCT_2005_07_31:44785005 Nephrotic syndrome with lesion of minimal change glomerulonephritis ICD9CM_2006:581.3 Nephrotic syndrome with lesion of minimal change nephrotic syndrome MTHICD9_2006:581.3 A spastic cerebral palsy that affects one side of the body resulting in stiff arm, hand and leg. On the affected side,the arm and leg may not develop normally. ICD9CM:343.1 SNOMEDCT_US_2016_03_01:258714003 SNOMEDCT_US_2016_03_01:43486001 UMLS_CUI:C0270805 Congenital hemiplegia Hemiplegic cerebral palsy Hemiplegic infantile cerebral palsy hemiplegic cerebral palsy spastic hemiplegic cerebral palsy disease_ontology DOID:10967 spastic hemiplegia A spastic cerebral palsy that affects one side of the body resulting in stiff arm, hand and leg. On the affected side,the arm and leg may not develop normally. url:http://www.cerebralpalsy.org/types-of-cerebral-palsy/#ataxic Congenital hemiplegia MTHICD9_2006:343.1 Hemiplegic cerebral palsy SNOMEDCT_2005_07_31:43486001 Hemiplegic infantile cerebral palsy ICD9CM_2006:343.1 A spastic cerebral palsy that affects only one limb. ICD9CM:343.3 MESH:D002547 UMLS_CUI:C0154698 Monoplegic infantile cerebral palsy infantile monoplegic cerebral palsy spastic monoplegic cerebral palsy disease_ontology DOID:10968 spastic monoplegia A spastic cerebral palsy that affects only one limb. url:http://en.wikipedia.org/wiki/Cerebral_palsy#Ataxic Monoplegic infantile cerebral palsy ICD9CM_2006:343.3 ICD9CM:343.4 MESH:D006429 SNOMEDCT_US_2016_03_01:155024003 SNOMEDCT_US_2016_03_01:155025002 SNOMEDCT_US_2016_03_01:155026001 SNOMEDCT_US_2016_03_01:1593000 SNOMEDCT_US_2016_03_01:192952005 SNOMEDCT_US_2016_03_01:192955007 SNOMEDCT_US_2016_03_01:267696006 UMLS_CUI:C0392550 Infantile hemiplegia Postnatal infantile hemiplegia disease_ontology DOID:10969 hemiplegia Infantile hemiplegia SNOMEDCT_2005_07_31:267696006 Postnatal infantile hemiplegia MTHICD9_2006:343.4 Hydrops fetalis is a alpha thalassemia characterized by an abnormal accumulation of serous fluid in the fetal tissues, as in erythroblastosis fetalis. disease_ontology DOID:1097 hydrops fetalis true Hydrops fetalis is a alpha thalassemia characterized by an abnormal accumulation of serous fluid in the fetal tissues, as in erythroblastosis fetalis. stedman:rlc url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Hydrops%20fetalis A spastic cerebral palsy that affects all four limbs. The individuals have difficulty with walking and talking. ICD9CM:343.2 MESH:D002547 OMIM:603513 OMIM:612900 ORDO:210141 SNOMEDCT_US_2016_03_01:192953000 SNOMEDCT_US_2016_03_01:275468009 UMLS_CUI:C0154697 quadriplegic infantile cerebral palsy spastic quadriplegic cerebral palsy tetraplegic infantile cerebral palsy disease_ontology DOID:10970 Xref MGI. spastic quadriplegia A spastic cerebral palsy that affects all four limbs. The individuals have difficulty with walking and talking. url:http://www.cerebralpalsy.org/types-of-cerebral-palsy/#ataxic quadriplegic infantile cerebral palsy ICD9CM_2006:343.2 tetraplegic infantile cerebral palsy MTHICD9_2006:343.2 ICD10CM:N70.0 ICD10CM:N70.03 ICD9CM:614.0 SNOMEDCT_US_2016_03_01:155969007 SNOMEDCT_US_2016_03_01:198132003 SNOMEDCT_US_2016_03_01:198134002 SNOMEDCT_US_2016_03_01:198139007 SNOMEDCT_US_2016_03_01:266581008 UMLS_CUI:C0156327 acute salpingitis and oophoritis disease_ontology DOID:10971 acute salpingo-oophoritis acute salpingitis and oophoritis ICD9CM_2006:614.0 ICD10CM:N70 ICD10CM:N70.9 ICD10CM:N70.93 ICD9CM:614.2 SNOMEDCT_US_2016_03_01:155971007 SNOMEDCT_US_2016_03_01:198147007 SNOMEDCT_US_2016_03_01:198150005 SNOMEDCT_US_2016_03_01:198153007 SNOMEDCT_US_2016_03_01:266650009 SNOMEDCT_US_2016_03_01:46536000 UMLS_CUI:C0036133 Salpingitis/oophoritis Tubo-ovarian inflammatory disease disease_ontology DOID:10972 salpingo-oophoritis Salpingitis/oophoritis SNOMEDCT_2005_07_31:155971007 Tubo-ovarian inflammatory disease MTHICD9_2006:614.2 ICD10CM:N70.01 NCI:C40120 SNOMEDCT_US_2016_03_01:8912009 UMLS_CUI:C0269038 disease_ontology DOID:10973 acute salpingitis ICD10CM:N70.92 MESH:D009869 SNOMEDCT_US_2016_03_01:155968004 SNOMEDCT_US_2016_03_01:198148002 SNOMEDCT_US_2016_03_01:266648001 SNOMEDCT_US_2016_03_01:76047005 UMLS_CUI:C0029051 disease_ontology DOID:10974 oophoritis EFO:0004254 ICD10CM:N03.2 MESH:D015433 NCI:C34645 SNOMEDCT_US_2016_03_01:197710000 SNOMEDCT_US_2016_03_01:77182004 UMLS_CUI:C0017665 membranous nephropathy disease_ontology DOID:10976 membranous glomerulonephritis membranous nephropathy CSP2005:4006-0062 A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 3, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms. acute nonparalytic poliomyelitis poliovirus type III disease_ontology DOID:10978 poliovirus type III nonparalytic poliomyelitis true A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 3, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms. url:http://www.cdc.gov/vaccines/pubs/pinkbook/downloads/polio.pdf A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 1, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms. acute nonparalytic poliomyelitis poliovirus type I disease_ontology DOID:10979 poliovirus type I nonparalytic poliomyelitis true A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 1, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms. url:http://www.cdc.gov/vaccines/pubs/pinkbook/downloads/polio.pdf ICD10CM:P55 ICD10CM:P55.9 ICD9CM:773 ICD9CM:773.2 MESH:D004899 NCI:C101304 SNOMEDCT_US_2016_03_01:111468003 SNOMEDCT_US_2016_03_01:123307003 SNOMEDCT_US_2016_03_01:157130001 SNOMEDCT_US_2016_03_01:206429000 SNOMEDCT_US_2016_03_01:206430005 SNOMEDCT_US_2016_03_01:206431009 SNOMEDCT_US_2016_03_01:206436004 SNOMEDCT_US_2016_03_01:25121006 SNOMEDCT_US_2016_03_01:268878003 SNOMEDCT_US_2016_03_01:276577009 SNOMEDCT_US_2016_03_01:33130007 SNOMEDCT_US_2016_03_01:387705004 UMLS_CUI:C0014761 (Haemolytic disease due to rhesus isoimmunisation) or (erythroblastosis fetalis) or (rhesus isoimmunisation of the newborn) EF - Erythroblastosis foetalis erythroblastosis fetalis disease_ontology DOID:1098 fetal erythroblastosis (Haemolytic disease due to rhesus isoimmunisation) or (erythroblastosis fetalis) or (rhesus isoimmunisation of the newborn) SNOMEDCT_2005_07_31:206430005 EF - Erythroblastosis foetalis SNOMEDCT_2005_07_31:387705004 erythroblastosis fetalis CSP2005:0441-2309 A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 2, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms. acute nonparalytic poliomyelitis poliovirus type II disease_ontology DOID:10980 poliovirus type II nonparalytic poliomyelitis true A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 2, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms. url:http://www.cdc.gov/vaccines/pubs/pinkbook/downloads/polio.pdf A monogenic disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss. MESH:D009394 ORDO:63 SNOMEDCT_US_2016_03_01:399340005 SNOMEDCT_US_2016_03_01:57333009 UMLS_CUI:C0027706 Hereditary Nephritis disease_ontology DOID:10983 OMIM mapping confirmed by DO. [SN]. Alport syndrome A monogenic disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss. url:http://en.wikipedia.org/wiki/Alport_syndrome Hereditary Nephritis NCI2004_11_17:C34842 ICD10CM:M46.4 MESH:D015299 SNOMEDCT_US_2016_03_01:2304001 UMLS_CUI:C0012624 disease_ontology DOID:10986 discitis ICD10CM:H11.41 ICD9CM:372.74 NCI:C35116 SNOMEDCT_US_2016_03_01:193900004 SNOMEDCT_US_2016_03_01:74100001 UMLS_CUI:C0042370 Conjunctival vascular abnormality vascular abnormalities of conjunctiva disease_ontology DOID:10989 conjunctival vascular disease Conjunctival vascular abnormality SNOMEDCT_2005_07_31:193900004 vascular abnormalities of conjunctiva ICD9CM_2006:372.74 Alpha thalassemia is a thalassemia involving the genes HBA1and HBA2 hemoglobin genes. ICD10CM:D56.0 ICD9CM:282.43 MESH:D017085 NCI:C34368 OMIM:604131 SNOMEDCT_US_2016_03_01:191186002 SNOMEDCT_US_2016_03_01:68913001 UMLS_CUI:C0002312 Alpha thalassaemia alpha-Thalassemia disease_ontology DOID:1099 OMIM mapping confirmed by DO. [SN]. alpha thalassemia Alpha thalassemia is a thalassemia involving the genes HBA1and HBA2 hemoglobin genes. url:http://en.wikipedia.org/wiki/Alpha_Thalassemia Alpha thalassaemia SNOMEDCT_2005_07_31:191186002 MESH:D020144 UMLS_CUI:C0751739 disease_ontology DOID:10991 basal ganglia cerebrovascular disease A very rare form of acute disseminated encephalomyelitis, characterized by a brief but intense attack of inflammation and necrotizing vasculitis of venules and hemorrhage, and edema. MESH:D004684 NCI:C84535 OMIM:606752 SNOMEDCT_US_2016_03_01:72986009 UMLS_CUI:C0014077 AHL Weston-Hurst syndrome acute haemorrhagic leucoencephalitis of Weston Hurst acute hemorrhagic encephalomyelitis acute necrotizing hemorrhagic leukoencephalitis disease_ontology DOID:10992 OMIM mapping confirmed by DO. [SN]. acute hemorrhagic leukoencephalitis A very rare form of acute disseminated encephalomyelitis, characterized by a brief but intense attack of inflammation and necrotizing vasculitis of venules and hemorrhage, and edema. url:http://en.wikipedia.org/wiki/Acute_disseminated_encephalomyelitis#Acute_hemorrhagic_leukoencephalitis url:http://rarediseases.info.nih.gov/gard/8629/acute-hemorrhagic-leukoencephalitis/resources/1 AHL OMIM:606752 acute haemorrhagic leucoencephalitis of Weston Hurst SNOMEDCT_2005_07_31:72986009 Post-infectious encephalitis (disorder) Post-infectious encephalitis NOS (disorder) Postinfective encephalitis disease_ontology DOID:10993 postinfectious encephalitis true Post-infectious encephalitis (disorder) SNOMEDCT_2005_07_31:192727001 Post-infectious encephalitis NOS (disorder) SNOMEDCT_2005_07_31:192729003 Postinfective encephalitis SNOMEDCT_2005_07_31:154989001 Postinfective encephalitis SNOMEDCT_2005_07_31:267683005 ICD10CM:H25.09 SNOMEDCT_US_2016_03_01:193584004 SNOMEDCT_US_2016_03_01:52421005 UMLS_CUI:C0271163 Incipient cataract Incipient senile cataract Water clefts disease_ontology DOID:10997 immature cataract Incipient cataract SNOMEDCT_2005_07_31:52421005 Incipient senile cataract ICD9CM_2006:366.12 Water clefts MTHICD9_2006:366.12 disease_ontology DOID:10998 chronic glomerulonephritis with lesion of membranoproliferative glomerulonephritis true ICD10CM:H25-H28 ICD10CM:H27.9 MESH:D007905 NCI:C26812 SNOMEDCT_US_2016_03_01:10810001 SNOMEDCT_US_2016_03_01:194158009 SNOMEDCT_US_2016_03_01:194613002 UMLS_CUI:C0023308 disease_ontology DOID:110 lens disease MESH:D010049 NCI:C26841 SNOMEDCT_US_2016_03_01:5552004 UMLS_CUI:C0029928 disease_ontology DOID:1100 ovarian disease Essential iris atrophy (disorder) Essential or progressive iris atrophy disease_ontology DOID:11000 progressive iris atrophy true Essential iris atrophy (disorder) SNOMEDCT_2005_07_31:25913001 Essential or progressive iris atrophy ICD9CM_2006:364.51 disease_ontology DOID:11001 Iris and ciliary body degeneration true Iridoschisis (disorder) disease_ontology DOID:11002 Iridoschisis true Iridoschisis (disorder) SNOMEDCT_2005_07_31:5743005 Miotic cyst of pupillary margin (disorder) Miotic cysts of pupillary margin disease_ontology DOID:11003 pupillary margin miotic cyst true Miotic cyst of pupillary margin (disorder) SNOMEDCT_2005_07_31:22681004 Miotic cysts of pupillary margin ICD9CM_2006:364.55 degeneration of pupillary margin degeneration of pupillary margin (disorder) disease_ontology DOID:11005 Atrophy of sphincter of iris true degeneration of pupillary margin ICD9CM_2006:364.54 degeneration of pupillary margin (disorder) SNOMEDCT_2005_07_31:25859000 ICD10CM:K62.4 ICD9CM:569.2 MESH:C537771 SNOMEDCT_US_2016_03_01:155803007 SNOMEDCT_US_2016_03_01:197216007 SNOMEDCT_US_2016_03_01:197218008 SNOMEDCT_US_2016_03_01:68627009 UMLS_CUI:C0156183 Anorectal stricture (disorder) Stenosis of rectum and anus Stenosis of rectum and anus (disorder) Stenosis of rectum and anus NOS (disorder) disease_ontology DOID:11014 anorectal stricture Anorectal stricture (disorder) SNOMEDCT_2005_07_31:68627009 Stenosis of rectum and anus ICD9CM_2006:569.2 Stenosis of rectum and anus SNOMEDCT_2005_07_31:155803007 Stenosis of rectum and anus (disorder) SNOMEDCT_2005_07_31:197216007 Stenosis of rectum and anus NOS (disorder) SNOMEDCT_2005_07_31:197218008 Post-surgical testicular hypofunction (disorder) Postablative testicular hypofunction Postablative testicular hypofunction (disorder) Postablative testicular hypofunction NOS (disorder) Postsurgical testicular hypofunction (disorder) [Ambiguous] disease_ontology DOID:11018 postsurgical testicular hypofunction true Post-surgical testicular hypofunction (disorder) SNOMEDCT_2005_07_31:190553000 Postablative testicular hypofunction ICD9CM_2006:257.1 Postablative testicular hypofunction (disorder) SNOMEDCT_2005_07_31:190552005 Postablative testicular hypofunction NOS (disorder) SNOMEDCT_2005_07_31:190556008 Postsurgical testicular hypofunction (disorder) [Ambiguous] SNOMEDCT_2005_07_31:60237007 disease_ontology DOID:11019 testicular dysfunction true chronic glomerulonephritis with lesion of proliferative glomerulonephritis disease_ontology DOID:11020 chronic glomerulonephritis with lesion of proliferative glomerulonephritis true chronic glomerulonephritis with lesion of proliferative glomerulonephritis ICD9CM_2006:582.0 chronic Glomerulonephritis with Lesion of Membranous Glomerulonephritis disease_ontology DOID:11027 chronic glomerulonephritis with lesion of membranous glomerulonephritis true chronic Glomerulonephritis with Lesion of Membranous Glomerulonephritis NCI2004_11_17:C34475 ICD9CM:372.52 SNOMEDCT_US_2016_03_01:66139007 UMLS_CUI:C0155161 disease_ontology DOID:11028 pseudopterygium ICD10CM:H11.15 ICD9CM:372.51 MESH:D059407 SNOMEDCT_US_2016_03_01:155169006 SNOMEDCT_US_2016_03_01:267735001 SNOMEDCT_US_2016_03_01:87614000 UMLS_CUI:C0152255 disease_ontology DOID:11029 pinguecula disease_ontology DOID:1103 malignant esophageal neoplasm by topographic region true ICD10CM:H18.20 ICD9CM:371.2 ICD9CM:371.20 MESH:D015715 NCI:C50508 SNOMEDCT_US_2016_03_01:155158008 SNOMEDCT_US_2016_03_01:193811006 SNOMEDCT_US_2016_03_01:193812004 SNOMEDCT_US_2016_03_01:193817005 SNOMEDCT_US_2016_03_01:27194006 UMLS_CUI:C0010037 Corneal oedema disease_ontology DOID:11030 corneal edema Corneal oedema SNOMEDCT_2005_07_31:155158008 ICD10CM:H18.1 ICD9CM:371.23 NCI:C26970 SNOMEDCT_US_2016_03_01:193815002 SNOMEDCT_US_2016_03_01:57207003 UMLS_CUI:C0155111 disease_ontology DOID:11031 bullous keratopathy ICD10CM:H18.23 ICD9CM:371.22 SNOMEDCT_US_2016_03_01:193814003 SNOMEDCT_US_2016_03_01:27536004 UMLS_CUI:C0155110 disease_ontology DOID:11032 secondary corneal edema ICD10CM:H18.22 ICD9CM:371.21 SNOMEDCT_US_2016_03_01:1794009 SNOMEDCT_US_2016_03_01:193813009 UMLS_CUI:C0155109 disease_ontology DOID:11033 idiopathic corneal edema ICD9CM:371.24 SNOMEDCT_US_2016_03_01:193816001 SNOMEDCT_US_2016_03_01:49362009 UMLS_CUI:C0474442 disease_ontology DOID:11034 contact lens corneal edema ICD9CM:582.4 SNOMEDCT_US_2016_03_01:197614002 UMLS_CUI:C0341694 chronic glomerulonephritis with lesion of rapidly progressive glomerulonephritis disease_ontology DOID:11036 chronic rapidly progressive glomerulonephritis chronic glomerulonephritis with lesion of rapidly progressive glomerulonephritis ICD9CM_2006:582.4 A dissociative disorder where he continuity of the patient's memory is disrupted. Patients with dissociative amnesia have recurrent episodes in which they forget important personal information or events, usually connected with trauma or severe stress. ICD10CM:F44.0 ICD9CM:300.12 MESH:D000647 NCI:C94328 SNOMEDCT_US_2016_03_01:191716000 SNOMEDCT_US_2016_03_01:192420000 SNOMEDCT_US_2016_03_01:84209002 UMLS_CUI:C0236795 psychogenic amnesia disease_ontology DOID:11037 dissociative amnesia A dissociative disorder where he continuity of the patient's memory is disrupted. Patients with dissociative amnesia have recurrent episodes in which they forget important personal information or events, usually connected with trauma or severe stress. url:http://www.minddisorders.com/Del-Fi/Dissociative-amnesia.html psychogenic amnesia CSP2005:2483-7018 A dissociative disorder in which the sufferer is affected by persistent or recurrent feelings of depersonalization and/or derealization. ICD9CM:300.6 MESH:D003861 NCI:C94331 SNOMEDCT_US_2016_03_01:70764005 UMLS_CUI:C0683416 Neurotic derealization disease_ontology DOID:11038 depersonalization disorder A dissociative disorder in which the sufferer is affected by persistent or recurrent feelings of depersonalization and/or derealization. url:http://en.wikipedia.org/wiki/Depersonalization_disorder Neurotic derealization MTHICD9_2006:300.6 A syndrome that results_in rheumatoid arthritis, splenomegaly and neutropenia. ICD10CM:M05.0 ICD10CM:M05.00 ICD9CM:714.1 MESH:D005258 NCI:C84712 OMIM:134750 SNOMEDCT_US_2016_03_01:156482001 SNOMEDCT_US_2016_03_01:57160007 UMLS_CUI:C0015773 Felty syndrome Rheumatoid arthritis with splenoadenomegaly and leukopenia disease_ontology DOID:11042 OMIM mapping confirmed by DO. [SN]. Felty's syndrome A syndrome that results_in rheumatoid arthritis, splenomegaly and neutropenia. url:http://emedicine.medscape.com/article/329734-overview url:http://en.wikipedia.org/wiki/Felty%27s_syndrome url:http://www.medicinenet.com/feltys_syndrome/article.htm url:http://www.nlm.nih.gov/medlineplus/ency/article/000445.htm Rheumatoid arthritis with splenoadenomegaly and leukopenia MTHICD9_2006:714.1 ICD10CM:Q79.3 ICD9CM:756.73 MESH:D020139 NCI:C84725 OMIM:230750 SNOMEDCT_US_2016_03_01:72951007 UMLS_CUI:C0265706 disease_ontology DOID:11044 OMIM mapping confirmed by DO. [SN]. gastroschisis ICD10CM:P24.0 ICD10CM:P24.00 ICD10CM:P24.01 MESH:D008471 NCI:C87093 SNOMEDCT_US_2016_03_01:14608006 SNOMEDCT_US_2016_03_01:157110000 SNOMEDCT_US_2016_03_01:206292002 SNOMEDCT_US_2016_03_01:278927005 SNOMEDCT_US_2016_03_01:85779008 UMLS_CUI:C0025048 Neonatal aspiration of meconium meconium aspiration disease_ontology DOID:11049 meconium aspiration syndrome Neonatal aspiration of meconium SNOMEDCT_2005_07_31:278927005 metastatic tumor to the esophagus disease_ontology DOID:1105 esophageal metastasis true metastatic tumor to the esophagus NCI2004_11_17:C7479 An urinary system cancer that results_in malignant growth located_in the urinary bladder. DOID:5428 ICD10CM:C67 ICD10CM:C67.9 ICD9CM:188 ICD9CM:188.9 KEGG:05219 MESH:D001749 NCI:C2901 NCI:C9334 OMIM:109800 SNOMEDCT_US_2016_03_01:126885006 SNOMEDCT_US_2016_03_01:154540000 SNOMEDCT_US_2016_03_01:188248005 SNOMEDCT_US_2016_03_01:269607003 SNOMEDCT_US_2016_03_01:363455001 SNOMEDCT_US_2016_03_01:399326009 SNOMEDCT_US_2016_03_01:93689003 UMLS_CUI:C0005684 UMLS_CUI:C0005695 bladder cancer tumor of the bladder disease_ontology DOID:11054 OMIM mapping confirmed by DO. [SN]. urinary bladder cancer An urinary system cancer that results_in malignant growth located_in the urinary bladder. url:http://en.wikipedia.org/wiki/Bladder_cancer tumor of the bladder NCI2004_11_17:C2901 A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Pasteurella multocida, which is transmitted_by animal bite, scratch, or lick. The infection has_symptom joint pain has_symptom fever, has_symptom rigors, has_symptom pneumonia, has_symptom meningeal irritation, and has_symptom tachycardia. ICD10CM:A28.0 ICD9CM:027.2 MESH:D010326 SNOMEDCT_US_2016_03_01:186328008 SNOMEDCT_US_2016_03_01:266086006 SNOMEDCT_US_2016_03_01:276199008 SNOMEDCT_US_2016_03_01:83172007 UMLS_CUI:C0030636 Pasteurella infection Pasteurella infectious disease disease_ontology DOID:11055 pasteurellosis A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Pasteurella multocida, which is transmitted_by animal bite, scratch, or lick. The infection has_symptom joint pain has_symptom fever, has_symptom rigors, has_symptom pneumonia, has_symptom meningeal irritation, and has_symptom tachycardia. url:http://emedicine.medscape.com/article/224920-clinical#a0217 url:http://en.wikipedia.org/wiki/Pasteurellosis Pasteurella infection SNOMEDCT_2005_07_31:276199008 hemorrhagic septicemia disease_ontology DOID:11056 Pasteurella hemorrhagic septicemia true NCI:C5687 UMLS_CUI:C1333459 Lymphoma of esophagus disease_ontology DOID:1106 esophagus lymphoma Lymphoma of esophagus NCI2004_11_17:C5687 A placenta disease that is characterized by placenta attachment to the uterine wall close to or covering the cervix. ICD10CM:O44 MESH:D010923 NCI:C26858 SNOMEDCT_US_2016_03_01:157059004 SNOMEDCT_US_2016_03_01:198930005 SNOMEDCT_US_2016_03_01:36813001 UMLS_CUI:C0032046 disease_ontology DOID:11060 placenta praevia A placenta disease that is characterized by placenta attachment to the uterine wall close to or covering the cervix. url:http://en.wikipedia.org/wiki/Placenta_previa A esophageal cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. EFO:0002916 NCI:C3513 SNOMEDCT_US_2016_03_01:154441003 SNOMEDCT_US_2016_03_01:255079005 SNOMEDCT_US_2016_03_01:372138000 SNOMEDCT_US_2016_03_01:93785002 UMLS_CUI:C0152018 cancer of esophagus cancer of oesophagus carcinoma OF ESOPHAGUS carcinoma of esophagus (disorder) carcinoma of oesophagus disease_ontology DOID:1107 esophageal carcinoma A esophageal cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Esophageal_cancer cancer of esophagus NCI2004_11_17:C3513 cancer of oesophagus SNOMEDCT_2005_07_31:93785002 carcinoma OF ESOPHAGUS MTH:NOCODE carcinoma of esophagus (disorder) SNOMEDCT_2005_07_31:255079005 carcinoma of esophagus (disorder) SNOMEDCT_2005_07_31:372138000 carcinoma of oesophagus SNOMEDCT_2005_07_31:154441003 Cyst of the Thyroid gland Cyst of thyroid Cyst of thyroid (disorder) Thyroid cyst disease_ontology DOID:11074 cyst of thyroid true Cyst of the Thyroid gland NCI2004_11_17:C3667 Cyst of thyroid ICD9CM_2006:246.2 Cyst of thyroid (disorder) SNOMEDCT_2005_07_31:72325004 Thyroid cyst SNOMEDCT_2005_07_31:154669004 A brucellosis that involves an infection caused by Brucella suis [NCBITaxon:29461] in swine and humans. The disease has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom diaphoresis, has_symptom arthralgia, has_symptom myalgia, has_symptom headache, has_symptom anorexia, and has_symptom fatigue. disease_ontology DOID:11076 Brucella suis brucellosis A brucellosis that involves an infection caused by Brucella suis [NCBITaxon:29461] in swine and humans. The disease has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom diaphoresis, has_symptom arthralgia, has_symptom myalgia, has_symptom headache, has_symptom anorexia, and has_symptom fatigue. url:http://www.cdc.gov/mmwr/preview/mmwrhtml/mm5822a3.htm A primary bacterial infectious disease that is caused by the bacteria of the genus Brucella, when humans come in contact with contaminated animals or animal products or ingestion of infected food products. The disease has_symptom fever, has_symptom sweat, has_symptom headache, has_symptom back pain, has_symptom physical weakness, has_symptom joint pain and has_symptom fatigue. DOID:0050060 ICD10CM:A23 ICD10CM:A23.9 ICD9CM:023 ICD9CM:023.9 MESH:D002006 NCI:C84602 SNOMEDCT_US_2016_03_01:111804008 SNOMEDCT_US_2016_03_01:154296006 SNOMEDCT_US_2016_03_01:186310006 SNOMEDCT_US_2016_03_01:187304000 SNOMEDCT_US_2016_03_01:75702008 UMLS_CUI:C0006309 Maltese fever undulant fever disease_ontology Bang's disease Gibraltar fever Malta fever Mediterranean fever DOID:11077 brucellosis A primary bacterial infectious disease that is caused by the bacteria of the genus Brucella, when humans come in contact with contaminated animals or animal products or ingestion of infected food products. The disease has_symptom fever, has_symptom sweat, has_symptom headache, has_symptom back pain, has_symptom physical weakness, has_symptom joint pain and has_symptom fatigue. url:http://www.cdc.gov/ncidod/dbmd/diseaseinfo/Brucellosis_g.htm A parasitic ectoparasitic infectious disease that involves parasitic infestation by members of the subclass Hirudinea. The leeches remain attached to their hosts and feed on blood until they become full, at which point they fall off to digest. While feeding, they release an anesthetic and use a combination of mucus and suction to stay attached and secrete an anti-clotting enzyme, hirudin, into the host's blood stream. ICD10CM:B88.3 ICD9CM:134.2 SNOMEDCT_US_2016_03_01:154423006 SNOMEDCT_US_2016_03_01:266225001 SNOMEDCT_US_2016_03_01:64351000 UMLS_CUI:C0019575 Hirudiniasis Leech infestation (disorder) Leeches disease_ontology DOID:11079 leech infestation A parasitic ectoparasitic infectious disease that involves parasitic infestation by members of the subclass Hirudinea. The leeches remain attached to their hosts and feed on blood until they become full, at which point they fall off to digest. While feeding, they release an anesthetic and use a combination of mucus and suction to stay attached and secrete an anti-clotting enzyme, hirudin, into the host's blood stream. url:http://en.wikipedia.org/wiki/Leech url:http://www.plosone.org/article/info:doi/10.1371/journal.pone.0010057 Hirudiniasis ICD9CM_2006:134.2 Leech infestation (disorder) SNOMEDCT_2005_07_31:64351000 Leeches MTHICD9_2006:134.2 NCI:C5707 UMLS_CUI:C1333460 melanoma of esophagus disease_ontology DOID:1108 esophagus melanoma melanoma of esophagus NCI2004_11_17:C5707 A parasitic ectoparasitic infectious disease that is caused by parasitic dipterous fly larvae (maggots) feeding on the host's necrotic or living tissue. ICD10CM:B87 ICD10CM:B87.9 ICD9CM:134.0 MESH:D009198 SNOMEDCT_US_2016_03_01:154423006 SNOMEDCT_US_2016_03_01:187224004 SNOMEDCT_US_2016_03_01:187547004 SNOMEDCT_US_2016_03_01:266225001 SNOMEDCT_US_2016_03_01:60412004 UMLS_CUI:C0027030 Infestation by fly larvae (disorder) Infestation by maggots Maggot infestation Myiasis, unspecified Myiasis, unspecified (disorder) disease_ontology DOID:11080 myiasis A parasitic ectoparasitic infectious disease that is caused by parasitic dipterous fly larvae (maggots) feeding on the host's necrotic or living tissue. url:http://en.wikipedia.org/wiki/Myiasis url:http://www.dpd.cdc.gov/dpdx/HTML/Myiasis.htm Infestation by fly larvae (disorder) SNOMEDCT_2005_07_31:60412004 Infestation by maggots MTHICD9_2006:134.0 Maggot infestation SNOMEDCT_2005_07_31:266225001 Myiasis, unspecified SNOMEDCT_2005_07_31:187224004 Myiasis, unspecified (disorder) SNOMEDCT_2005_07_31:187547004 ICD10CM:H31.0 ICD10CM:H31.00 ICD9CM:363.3 ICD9CM:363.30 SNOMEDCT_US_2016_03_01:193455005 SNOMEDCT_US_2016_03_01:193460009 SNOMEDCT_US_2016_03_01:53854005 UMLS_CUI:C0008512 disease_ontology DOID:11086 chorioretinal scar ICD10CM:P84 ICD9CM:768.9 MESH:D001238 SNOMEDCT_US_2016_03_01:157098009 SNOMEDCT_US_2016_03_01:206278008 SNOMEDCT_US_2016_03_01:268831004 SNOMEDCT_US_2016_03_01:268873007 SNOMEDCT_US_2016_03_01:28314004 SNOMEDCT_US_2016_03_01:413654009 UMLS_CUI:C0004045 Asphyxia - birth Asphyxia, in liveborn infant Birth asphyxia postnatal asphyxia disease_ontology DOID:11088 asphyxia neonatorum Asphyxia - birth SNOMEDCT_2005_07_31:268873007 Asphyxia, in liveborn infant SNOMEDCT_2005_07_31:28314004 Birth asphyxia SNOMEDCT_2005_07_31:413654009 postnatal asphyxia CSP2005:0726-3340 disease_ontology DOID:1109 extracutaneous melanoma true Perinatal respiratory problems NOS Perinatal respiratory problems NOS (disorder) Unspecified respiratory condition of fetus and newborn respiratory condition of fetus OR newborn (disorder) disease_ontology DOID:11091 perinatal respiratory disorder true Perinatal respiratory problems NOS SNOMEDCT_2005_07_31:157108002 Perinatal respiratory problems NOS SNOMEDCT_2005_07_31:157115005 Perinatal respiratory problems NOS (disorder) SNOMEDCT_2005_07_31:206327004 Unspecified respiratory condition of fetus and newborn ICD9CM_2006:770.9 respiratory condition of fetus OR newborn (disorder) SNOMEDCT_2005_07_31:17849001 A Salmonella infectious disease that involves inflammation of the stomach and intestines caused by Salmonella infection. The symptoms include diarrhea, vomiting, abdominal pain, fever and weakness. Enteric paratyphosis Salmonella food poisoning Salmonella food poisoning (disorder) Salmonella gastroenteritis Salmonella gastroenteritis (disorder) Salmonella gastroenteritis [Ambiguous] Salmonellosis Salmonellosis (& [gastroenteritis] or [food poisoning]) disease_ontology DOID:11092 Salmonella gastroenteritis true A Salmonella infectious disease that involves inflammation of the stomach and intestines caused by Salmonella infection. The symptoms include diarrhea, vomiting, abdominal pain, fever and weakness. url:http://www.ncbi.nlm.nih.gov/sites/entrez/12631900 Enteric paratyphosis SNOMEDCT_2005_07_31:170879007 Salmonella food poisoning (disorder) SNOMEDCT_2005_07_31:302229004 Salmonella gastroenteritis ICD9CM_2006:003.0 Salmonella gastroenteritis SNOMEDCT_2005_07_31:154271008 Salmonella gastroenteritis (disorder) SNOMEDCT_2005_07_31:42338000 Salmonella gastroenteritis [Ambiguous] SNOMEDCT_2005_07_31:266072007 Salmonellosis MTHICD9_2006:003.0 Salmonellosis (& [gastroenteritis] or [food poisoning]) SNOMEDCT_2005_07_31:186094005 A gastroenteritis that involves inflammation of the stomach and intestines caused by bacteria. The symptoms include abdominal cramps and pain, diarrhea, loss of appetite, nausea, and vomiting. DOID:0050128 Bacterial gastroenteritis (disorder) Gastroenteritis - bact. bacterial diarrhea disease_ontology DOID:11093 bacterial gastroenteritis true A gastroenteritis that involves inflammation of the stomach and intestines caused by bacteria. The symptoms include abdominal cramps and pain, diarrhea, loss of appetite, nausea, and vomiting. url:http://www.nlm.nih.gov/medlineplus/ency/article/000254.htm Bacterial gastroenteritis (disorder) SNOMEDCT_2005_07_31:274080003 Gastroenteritis - bact. SNOMEDCT_2005_07_31:154268000 Gastroenteritis - bact. SNOMEDCT_2005_07_31:266173000 Syphilis of kidney Syphilis of kidney (disorder) disease_ontology DOID:11096 renal syphilis true Syphilis of kidney ICD9CM_2006:095.4 Syphilis of kidney (disorder) SNOMEDCT_2005_07_31:59530001 A tertiary syphilis that is caused by the spirochetal bacterium Treponema pallidum subspecies pallidum. It is a sexually transmitted disease although congenital syphilis can also occur. Treponema infection of the lung leads to a fibrous induration spreading from the roots of the lungs. Ulcerations occur in the superficial tissues, while in the deep tissues gummata are formed. Symptoms include dry cough, hemoptysis, hemorrhage, dyspnea, pain in the chest, loss of weight and slight fever. Syphilis of lung (disorder) disease_ontology DOID:11097 pulmonary syphilis true A tertiary syphilis that is caused by the spirochetal bacterium Treponema pallidum subspecies pallidum. It is a sexually transmitted disease although congenital syphilis can also occur. Treponema infection of the lung leads to a fibrous induration spreading from the roots of the lungs. Ulcerations occur in the superficial tissues, while in the deep tissues gummata are formed. Symptoms include dry cough, hemoptysis, hemorrhage, dyspnea, pain in the chest, loss of weight and slight fever. url:http://sti.bmj.com/cgi/reprint/4/4/290.pdf url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1707740/pdf/canmedaj00442-0068.pdf Syphilis of lung (disorder) SNOMEDCT_2005_07_31:8555001 disease_ontology DOID:11099 primary Rickettsiaceae infectious disease true disease_ontology DOID:1110 gastrointestinal melanoma true A primary bacterial infectious disease that is a zoonotic infectious disease affecting multiple organs, has_material_basis_in Coxiella burnetii, which is transmitted_by inhalation of air contaminated by barnyard dust containing dried placental material, birth fluids, or excreta of infected herd animals, transmitted_by ingestion of contaminated milk, transmitted_by tick bites and transmitted_by contact with infected person. The infection has_symptom fever, has_symptom headache, has_symptom cough, has_symptom pleuritic chest pain, has_symptom myalgia and has_symptom arthralgia. ICD10CM:A78 ICD9CM:083.0 MESH:D011778 NCI:C34970 SNOMEDCT_US_2016_03_01:154375001 SNOMEDCT_US_2016_03_01:186788009 SNOMEDCT_US_2016_03_01:260588007 SNOMEDCT_US_2016_03_01:266205000 SNOMEDCT_US_2016_03_01:86012006 UMLS_CUI:C0034362 Infection due to Coxiella burnetii (disorder) disease_ontology DOID:11100 Q fever A primary bacterial infectious disease that is a zoonotic infectious disease affecting multiple organs, has_material_basis_in Coxiella burnetii, which is transmitted_by inhalation of air contaminated by barnyard dust containing dried placental material, birth fluids, or excreta of infected herd animals, transmitted_by ingestion of contaminated milk, transmitted_by tick bites and transmitted_by contact with infected person. The infection has_symptom fever, has_symptom headache, has_symptom cough, has_symptom pleuritic chest pain, has_symptom myalgia and has_symptom arthralgia. url:http://en.wikipedia.org/wiki/Q_fever url:http://www.cdc.gov/qfever/symptoms/index.html url:http://www.ncbi.nlm.nih.gov/pubmed/15021054 Infection due to Coxiella burnetii (disorder) SNOMEDCT_2005_07_31:260588007 A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Bartonella quintana, which is transmitted_by body lice (Pediculus humanus corporis). The infection has_symptom relapsing fever, has_symptom headache, has_symptom shin pain, and has_symptom soreness of the muscles of the legs and back. ICD10CM:A79.0 ICD9CM:083.1 MESH:D014205 SNOMEDCT_US_2016_03_01:82214002 UMLS_CUI:C0040830 His-Werner disease Quintan fever Trench fever Wolhynian fever shin bone fever tibialgic fever disease_ontology DOID:11101 trench fever A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Bartonella quintana, which is transmitted_by body lice (Pediculus humanus corporis). The infection has_symptom relapsing fever, has_symptom headache, has_symptom shin pain, and has_symptom soreness of the muscles of the legs and back. url:http://emedicine.medscape.com/article/230294-clinical url:http://en.wikipedia.org/wiki/Trench_fever Trench fever ICD9CM_2006:083.1 Wolhynian fever MTHICD9_2006:083.1 A primary bacterial infectious disease that is caused by the bacteria of the genus Bartonella. ICD10CM:A44 ICD10CM:A44.9 ICD9CM:088.0 MESH:D001474 NCI:C84586 SNOMEDCT_US_2016_03_01:17116008 SNOMEDCT_US_2016_03_01:186824002 SNOMEDCT_US_2016_03_01:187340003 SNOMEDCT_US_2016_03_01:240454008 SNOMEDCT_US_2016_03_01:240623002 SNOMEDCT_US_2016_03_01:266123003 UMLS_CUI:C0004771 Bartonella infectious disease Rochalimaea infection (disorder) bartonelliasis disease_ontology DOID:11102 bartonellosis A primary bacterial infectious disease that is caused by the bacteria of the genus Bartonella. url:http://en.wikipedia/org/wiki/Bartonellosis Rochalimaea infection (disorder) SNOMEDCT_2005_07_31:240623002 bartonelliasis CSP2005:2623-6984 A spotted fever that has_material_basis_in Rickettsia akari, which is transmitted_by house mouse mite (Liponyssoides sanguineus) found on mice and other rodents. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, and has_symptom papulovesicular rash. DOID:0050037 ICD10CM:A79.1 ICD9CM:083.2 MESH:D012288 SNOMEDCT_US_2016_03_01:75096007 UMLS_CUI:C0035597 Rickettsia akari spotted fever Vesicular rickettsiosis disease_ontology DOID:11103 rickettsialpox A spotted fever that has_material_basis_in Rickettsia akari, which is transmitted_by house mouse mite (Liponyssoides sanguineus) found on mice and other rodents. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, and has_symptom papulovesicular rash. url:http://emedicine.medscape.com/article/227956-overview#a0104 url:http://www.cdc.gov/otherspottedfever/index.html Vesicular rickettsiosis MTHICD9_2006:083.2 A primary bacterial infectious disease that results_in infection, located_in endothelial cell of artery or located_in endothelial cell of vein, has_material_basis_in Rickettsia, which is transmitted_by ticks and mites. The infection has_symptom fever, has_symptom headache, has_symptom fatigue, has_symptom muscle aches, and has_symptom maculopapular or petechial rash. A distinctive eschar (blackened or crusted skin) may develop at the site of a tick bite. ICD10CM:A77 ICD10CM:A77.9 ICD9CM:082.0 SNOMEDCT_US_2016_03_01:186771002 SNOMEDCT_US_2016_03_01:186773004 SNOMEDCT_US_2016_03_01:187385002 UMLS_CUI:C0038041 Spotted fever group rickettsial disease (disorder) disease_ontology DOID:11104 spotted fever A primary bacterial infectious disease that results_in infection, located_in endothelial cell of artery or located_in endothelial cell of vein, has_material_basis_in Rickettsia, which is transmitted_by ticks and mites. The infection has_symptom fever, has_symptom headache, has_symptom fatigue, has_symptom muscle aches, and has_symptom maculopapular or petechial rash. A distinctive eschar (blackened or crusted skin) may develop at the site of a tick bite. url:http://emedicine.medscape.com/article/785659-overview#a0104 url:http://www.cdc.gov/otherspottedfever/index.html Spotted fever group rickettsial disease (disorder) SNOMEDCT_2005_07_31:186771002 A fundus dystrophy that is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement. ICD10CM:H35.52 ICD9CM:362.74 MESH:C562733 OMIM:136880 SNOMEDCT_US_2016_03_01:68222009 UMLS_CUI:C0311338 Pigmentary retinal dystrophy retinitis punctata albescens disease_ontology DOID:11105 OMIM mapping confirmed by DO. [SN]. fundus albipunctatus A fundus dystrophy that is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement. url:http://www.omim.org/entry/136880 Pigmentary retinal dystrophy ICD9CM_2006:362.74 Glaucoma associated with anterior segment anomaly (disorder) Glaucoma associated with other anterior segment anomalies disease_ontology DOID:11106 glaucoma associated with anterior segment anomaly true Glaucoma associated with anterior segment anomaly (disorder) SNOMEDCT_2005_07_31:45623002 Glaucoma associated with other anterior segment anomalies ICD9CM_2006:365.43 disease_ontology DOID:11107 glaucoma associated with ocular disorder true malignant neoplasm of cervical esophagus malignant neoplasm of cervical oesophagus malignant neoplasm of the cervical esophagus malignant tumor of cervical part of esophagus (disorder) disease_ontology DOID:1111 malignant neoplasm of cervical part of esophagus true malignant neoplasm of cervical esophagus ICD9CM_2006:150.0 malignant neoplasm of cervical oesophagus SNOMEDCT_2005_07_31:93750002 malignant neoplasm of the cervical esophagus NCI2004_11_17:C4763 malignant tumor of cervical part of esophagus (disorder) SNOMEDCT_2005_07_31:187722004 disease_ontology DOID:11110 psychosexual dysfunction with female orgasmic disease true ICD10CM:N13.30 ICD9CM:591 MESH:D006869 NCI:C26796 SNOMEDCT_US_2016_03_01:155866001 SNOMEDCT_US_2016_03_01:197791000 SNOMEDCT_US_2016_03_01:43064006 UMLS_CUI:C0020295 disease_ontology DOID:11111 hydronephrosis Syphilitic retrobulbar neuritis (disorder) disease_ontology DOID:11118 syphilitic retrobulbar neuritis true Syphilitic retrobulbar neuritis (disorder) SNOMEDCT_2005_07_31:36276008 A tic disorder that is characterized by multiple physical (motor) tics and at least one vocal (phonic) tic present for more than a year. EFO:0004895 ICD10CM:F95.2 ICD9CM:307.23 MESH:D005879 NCI:C35078 OMIM:137580 SNOMEDCT_US_2016_03_01:154936002 SNOMEDCT_US_2016_03_01:192624004 SNOMEDCT_US_2016_03_01:268778009 SNOMEDCT_US_2016_03_01:39098006 SNOMEDCT_US_2016_03_01:5158005 UMLS_CUI:C0040517 Guinon's disease Psychogenic tics Tourette syndrome motor-verbal tic disorder disease_ontology DOID:11119 OMIM mapping confirmed by DO. [SN]. Gilles de la Tourette syndrome A tic disorder that is characterized by multiple physical (motor) tics and at least one vocal (phonic) tic present for more than a year. url:http://emedicine.medscape.com/article/1182258-overview url:http://en.wikipedia.org/wiki/Tic_disorder url:http://en.wikipedia.org/wiki/Tourette%27s_disorder Guinon's disease CSP2005:2042-5068 Psychogenic tics SNOMEDCT_2005_07_31:268778009 motor-verbal tic disorder MTHICD9_2006:307.23 malignant neoplasm of neck malignant neoplasm of neck NOS (disorder) malignant tumor of neck (disorder) malignant tumor of the neck neck cancer disease_ontology cancer of neck DOID:1112 neck cancer true malignant neoplasm of neck SNOMEDCT_2005_07_31:93922007 malignant neoplasm of neck NOS (disorder) SNOMEDCT_2005_07_31:188358006 malignant tumor of neck (disorder) SNOMEDCT_2005_07_31:363489000 malignant tumor of the neck NCI2004_11_17:C4940 neck cancer CSP2005:2005-4325 ICD10CM:F52.6 ICD9CM:302.76 SNOMEDCT_US_2016_03_01:154905005 SNOMEDCT_US_2016_03_01:192470002 SNOMEDCT_US_2016_03_01:268762007 SNOMEDCT_US_2016_03_01:41021005 UMLS_CUI:C0154466 Dyspareunia, psychogenic Non-organic dyspareunia Psychologic dyspareunia (disorder) disease_ontology DOID:11120 psychologic dyspareunia Dyspareunia, psychogenic ICD9CM_2006:302.76 Non-organic dyspareunia SNOMEDCT_2005_07_31:192470002 Psychologic dyspareunia (disorder) SNOMEDCT_2005_07_31:41021005 ICD10CM:K04.0 ICD9CM:522.0 MESH:D011671 NCI:C52595 SNOMEDCT_US_2016_03_01:155638006 SNOMEDCT_US_2016_03_01:196331007 SNOMEDCT_US_2016_03_01:32620007 UMLS_CUI:C0034103 disease_ontology DOID:11121 pulpitis ICD10CM:D69.0 ICD9CM:287.0 MESH:D011695 NCI:C34963 SNOMEDCT_US_2016_03_01:154823001 SNOMEDCT_US_2016_03_01:191305009 SNOMEDCT_US_2016_03_01:191306005 SNOMEDCT_US_2016_03_01:191308006 SNOMEDCT_US_2016_03_01:21148002 SNOMEDCT_US_2016_03_01:246074004 SNOMEDCT_US_2016_03_01:267565009 SNOMEDCT_US_2016_03_01:31912009 SNOMEDCT_US_2016_03_01:367437009 UMLS_CUI:C0034152 Allergic purpura Autoimmune purpura Henoch-Sch?nlein purpura Henoch-Sch@nlein purpura Henoch-Scholein purpura Henoch-Schonlein Purpura Purpura, autoimmune disease_ontology DOID:11123 Henoch-Schoenlein purpura Allergic purpura ICD9CM_2006:287.0 Autoimmune purpura SNOMEDCT_2005_07_31:31912009 Henoch-Sch?nlein purpura SNOMEDCT_2005_07_31:246074004 Henoch-Sch@nlein purpura SNOMEDCT_2005_07_31:367437009 Henoch-Scholein purpura CSP2005:4006-0049 Henoch-Schonlein Purpura NCI2004_11_17:C34963 Purpura, autoimmune MTHICD9_2006:287.0 ICD10CM:D69.1 ICD9CM:287.1 SNOMEDCT_US_2016_03_01:191309003 SNOMEDCT_US_2016_03_01:191311007 SNOMEDCT_US_2016_03_01:267532001 UMLS_CUI:C0235604 Qualitative platelet deficiency NOS (disorder) disease_ontology DOID:11125 qualitative platelet defect Qualitative platelet deficiency NOS (disorder) SNOMEDCT_2005_07_31:191311007 ICD10CM:D69.5 ICD9CM:287.4 SNOMEDCT_US_2016_03_01:154826009 SNOMEDCT_US_2016_03_01:191325008 SNOMEDCT_US_2016_03_01:267537007 SNOMEDCT_US_2016_03_01:74576004 UMLS_CUI:C0154301 acquired thrombocytopenia (disorder) secondary thrombocytopenia secondary thrombocytopenia NOS secondary thrombocytopenia NOS (disorder) disease_ontology DOID:11126 acquired thrombocytopenia acquired thrombocytopenia (disorder) SNOMEDCT_2005_07_31:74576004 secondary thrombocytopenia ICD9CM_2006:287.4 secondary thrombocytopenia SNOMEDCT_2005_07_31:154826009 secondary thrombocytopenia NOS SNOMEDCT_2005_07_31:191325008 secondary thrombocytopenia NOS (disorder) SNOMEDCT_2005_07_31:267537007 ICD9CM:385.23 UMLS_CUI:C0155487 disease_ontology DOID:11129 dislocation of ear ossicle disease_ontology DOID:1113 malignant esophageal neoplasm by anatomic region true ICD10CM:I15 ICD10CM:I15.9 ICD9CM:405 ICD9CM:405.9 NCI:C3657 SNOMEDCT_US_2016_03_01:155300002 SNOMEDCT_US_2016_03_01:194789002 SNOMEDCT_US_2016_03_01:194792003 SNOMEDCT_US_2016_03_01:31992008 UMLS_CUI:C0155616 disease_ontology DOID:11130 secondary hypertension disease_ontology DOID:11132 prostatic hypertrophy ICD10CM:N42.83 ICD9CM:600.3 SNOMEDCT_US_2016_03_01:409658007 UMLS_CUI:C1443972 Cyst of prostate disease_ontology DOID:11133 prostatic cyst Cyst of prostate ICD9CM_2006:600.3 ICD10CM:H04.16 ICD9CM:375.16 SNOMEDCT_US_2016_03_01:84777002 UMLS_CUI:C0155231 Dislocation of lacrimal gland disease_ontology DOID:11134 prolapse of lacrimal gland Dislocation of lacrimal gland ICD9CM_2006:375.16 An esophageal cancer that arises from transformed cells of mesenchymal origin sarcoma and located_in the esophagus. NCI:C5341 UMLS_CUI:C1333466 disease_ontology esophageal sarcoma DOID:1114 esophagus sarcoma An esophageal cancer that arises from transformed cells of mesenchymal origin sarcoma and located_in the esophagus. url:http://en.wikipedia.org/wiki/Sarcoma url:http://www.google.com/search?hl=en&client=firefox-a&hs=X3f&rls=org.mozilla:en-US:official&ei=wxHfS4jAC4a8NualnMwH&sa=X&oi=spell&resnum=0&ct=result&cd=1&ved=0CA0QBSgA&q=esophageal+sarcoma&spell=1 Anthrax septicemia (disorder) disease_ontology DOID:11144 anthrax septicemia true Anthrax septicemia (disorder) SNOMEDCT_2005_07_31:14972006 primary cyst of pars plana primary cyst of pars plana (disorder) disease_ontology DOID:11145 Pars plana primary cyst true primary cyst of pars plana ICD9CM_2006:364.63 primary cyst of pars plana (disorder) SNOMEDCT_2005_07_31:47269005 DOID:11146 DOID:14083 antepartum vascular lesions of cord complicating labor and delivery vascular lesions of cord complicating labor and delivery, delivered disease_ontology DOID:11147 vascular lesions of cord complicating labor and delivery true ICD10CM:H40.82 ICD9CM:365.81 SNOMEDCT_US_2016_03_01:29369005 UMLS_CUI:C0154968 disease_ontology DOID:11148 hypersecretion glaucoma ICD10CM:H40.83 ICD9CM:365.83 UMLS_CUI:C1135189 disease_ontology DOID:11149 aqueous misdirection A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm. DOID:3936 ICD10CM:C49 ICD9CM:171 ICD9CM:171.9 SNOMEDCT_US_2016_03_01:187985009 SNOMEDCT_US_2016_03_01:93765001 UMLS_CUI:C0153519 connective and soft tissue neoplasm tumor of soft tissue and skeleton disease_ontology DOID:1115 sarcoma A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm. url:http://cancergenome.nih.gov/cancersselected/Sarcoma url:http://en.wikipedia.org/wiki/Sarcoma url:http://www.cancer.gov/dictionary?CdrID=45562 tumor of soft tissue and skeleton NCI2004_11_17:C3810 Glaucoma with increased episcleral venous pressure Glaucoma with increased episcleral venous pressure (disorder) disease_ontology DOID:11150 glaucoma due to raised episcleral venous pressure true Glaucoma with increased episcleral venous pressure ICD9CM_2006:365.82 Glaucoma with increased episcleral venous pressure (disorder) SNOMEDCT_2005_07_31:34623005 MESH:D041761 NCI:C34443 SNOMEDCT_US_2016_03_01:197376000 SNOMEDCT_US_2016_03_01:235919008 SNOMEDCT_US_2016_03_01:266541001 SNOMEDCT_US_2016_03_01:44900007 UMLS_CUI:C0947622 disease_ontology DOID:11151 cholecystolithiasis ICD10CM:L74.0 ICD10CM:L74.2 ICD9CM:705.1 MESH:D008883 SNOMEDCT_US_2016_03_01:156415007 SNOMEDCT_US_2016_03_01:201190003 SNOMEDCT_US_2016_03_01:201194007 SNOMEDCT_US_2016_03_01:201197000 SNOMEDCT_US_2016_03_01:267813002 SNOMEDCT_US_2016_03_01:44279002 SNOMEDCT_US_2016_03_01:72658003 UMLS_CUI:C0162423 Miliaria crystallina Prickly heat - miliaria Sudamina disease_ontology DOID:11153 miliaria rubra Miliaria crystallina SNOMEDCT_2005_07_31:44279002 Prickly heat - miliaria SNOMEDCT_2005_07_31:201190003 Sudamina MTHICD9_2006:705.1 ICD10CM:L74.4 MESH:D007007 NCI:C34718 SNOMEDCT_US_2016_03_01:201189007 SNOMEDCT_US_2016_03_01:45004005 UMLS_CUI:C0020620 Hypohidrosis (disorder) Oligohidrosis disease_ontology DOID:11155 hypohidrosis Hypohidrosis (disorder) SNOMEDCT_2005_07_31:45004005 Oligohidrosis MTHICD9_2006:705.0 Oligohidrosis SNOMEDCT_2005_07_31:201189007 ICD10CM:L74.4 ICD9CM:705.0 MESH:D007007 NCI:C34385 OMIM:206600 SNOMEDCT_US_2016_03_01:14662005 SNOMEDCT_US_2016_03_01:156414006 SNOMEDCT_US_2016_03_01:201189007 SNOMEDCT_US_2016_03_01:39659002 UMLS_CUI:C0003028 Adiaphoresis absence of sweating disease_ontology DOID:11156 OMIM mapping confirmed by DO. [SN]. anhidrosis Adiaphoresis NCI2004_11_17:C34385 absence of sweating SNOMEDCT_2005_07_31:14662005 disorder of optic chiasm associated with non-pituitary neoplasm (disorder) disorder of optic chiasm associated with other neoplasm disease_ontology DOID:11158 disorder of optic chiasm associated with non-pituitary neoplasm true disorder of optic chiasm associated with non-pituitary neoplasm (disorder) SNOMEDCT_2005_07_31:64246009 disorder of optic chiasm associated with other neoplasm ICD9CM_2006:377.52 A commensal bacterial infectious disease that results_in inflammation located_in respiratory tract, has_material_basis_in Bordetella pertussis, or has_material_basis_in Bordetella parapertussis, which produce toxins that paralyze the cilia of the respiratory epithelial cells. The infection is characterized by a prolonged, high-pitched, deeply indrawn breath (whoop). DOID:11333 DOID:11751 KEGG:05133 MESH:D001885 MESH:D014917 SNOMEDCT_US_2016_03_01:26484003 UMLS_CUI:C0006015 WC - Whooping cough bordetella infection whooping cough disease_ontology DOID:1116 pertussis A commensal bacterial infectious disease that results_in inflammation located_in respiratory tract, has_material_basis_in Bordetella pertussis, or has_material_basis_in Bordetella parapertussis, which produce toxins that paralyze the cilia of the respiratory epithelial cells. The infection is characterized by a prolonged, high-pitched, deeply indrawn breath (whoop). url:http://en.wikipedia.org/wiki/Pertussis url:http://www.merck.com/mmhe/sec23/ch272/ch272g.html#sec23-ch272-ch272g-800 WC - Whooping cough SNOMEDCT_2005_07_31:27836007 whooping cough CSP2005:0368-3326 ICD10CM:P28.5 ICD9CM:770.84 SNOMEDCT_US_2016_03_01:206317005 SNOMEDCT_US_2016_03_01:95619009 UMLS_CUI:C0521648 respiratory failure of newborn disease_ontology DOID:11161 neonatal respiratory failure respiratory failure of newborn ICD9CM_2006:770.84 A lung disease characterized by inadequate gas exchange by the respiratory system. DOID:11391 DOID:11392 DOID:11393 ICD10CM:J96.0 ICD9CM:518.81 NCI:C27043 SNOMEDCT_US_2016_03_01:65710008 UMLS_CUI:C0264490 acute and chronic respiratory failure acute respiratory Failure acute-on-chronic respiratory failure chronic respiratory failure respiratory insufficiency/failure disease_ontology DOID:11162 respiratory failure A lung disease characterized by inadequate gas exchange by the respiratory system. url:http://en.wikipedia.org/wiki/Respiratory_failure acute and chronic respiratory failure ICD9CM_2006:518.84 acute respiratory Failure NCI2004_11_17:C27043 acute-on-chronic respiratory failure SNOMEDCT_2005_07_31:67905004 respiratory insufficiency/failure CSP2005:2596-8662 primary apnea of newborn disease_ontology DOID:11163 apnea of prematurity true ICD10CM:H18.42 ICD9CM:371.43 MESH:C562399 NCI:C118765 OMIM:217500 SNOMEDCT_US_2016_03_01:35055000 UMLS_CUI:C0155120 Band-shaped keratopathy disease_ontology DOID:11164 OMIM mapping confirmed by DO. [SN]. band keratopathy Band-shaped keratopathy ICD9CM_2006:371.43 A viral infectious disease that results_in infection located_in skin, has_material_basis_in human papillomavirus (types 2 and 4). This infection has_symptom raised wart with roughened surface, most common on hands, but can grow anywhere on the body. ICD10CM:B07 ICD10CM:B07.8 ICD9CM:078.1 NCI:C27087 NCI:C5028 SNOMEDCT_US_2016_03_01:123201004 SNOMEDCT_US_2016_03_01:154361008 SNOMEDCT_US_2016_03_01:186685000 SNOMEDCT_US_2016_03_01:186686004 SNOMEDCT_US_2016_03_01:266198004 SNOMEDCT_US_2016_03_01:30285000 SNOMEDCT_US_2016_03_01:367507002 SNOMEDCT_US_2016_03_01:57019003 SNOMEDCT_US_2016_03_01:75003008 UMLS_CUI:C0043037 disease_ontology DOID:11165 common wart A viral infectious disease that results_in infection located_in skin, has_material_basis_in human papillomavirus (types 2 and 4). This infection has_symptom raised wart with roughened surface, most common on hands, but can grow anywhere on the body. url:http://emedicine.medscape.com/article/219110-overview url:http://en.wikipedia.org/wiki/Wart A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact. DOID:4146 Human papilloma Virus Infection Human papilloma virus infection (disorder) Human papilloma virus infection, NOS human papilloma virus infectious disease disease_ontology Tumor Virus Infections DOID:11166 papillomavirus infectious disease true A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact. url:http://emedicine.medscape.com/article/219110-overview Human papilloma Virus Infection NCI2004_11_17:C27851 Human papilloma virus infection (disorder) SNOMEDCT_2005_07_31:240532009 Human papilloma virus infection, NOS SNOMEDCT_2005_07_31:367507002 SNOMEDCT_2005_07_31:75003008 An anogenital venereal wart that results_in infection located_in cervix, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom cervical warts. Condyloma of the Cervix Uteri disease_ontology DOID:11167 uterine cervix condylomata acuminata true An anogenital venereal wart that results_in infection located_in cervix, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom cervical warts. url:http://emedicine.medscape.com/article/781735-overview Condyloma of the Cervix Uteri NCI2004_11_17:C8421 A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, and throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts. DOID:7877 ICD10CM:A63.0 ICD9CM:078.11 MESH:D003218 NCI:C2960 NCI:C4820 SNOMEDCT_US_2016_03_01:123157002 SNOMEDCT_US_2016_03_01:154361008 SNOMEDCT_US_2016_03_01:154365004 SNOMEDCT_US_2016_03_01:186688003 SNOMEDCT_US_2016_03_01:22020001 SNOMEDCT_US_2016_03_01:240542006 SNOMEDCT_US_2016_03_01:266113007 SNOMEDCT_US_2016_03_01:266198004 SNOMEDCT_US_2016_03_01:302812006 UMLS_CUI:C0009663 UMLS_CUI:C0554632 Anogenital Human papilloma Virus Infectious Disease Anogenital warts Genital warts genital wart virus infectious disease venereal wart disease_ontology Condyloma acuminatum DOID:11168 anogenital venereal wart A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, and throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts. url:http://www.merckmanuals.com/professional/sec14/ch194/ch194d.html Anogenital Human papilloma Virus Infectious Disease NCI2004_11_17:C4820 Anogenital warts SNOMEDCT_2005_07_31:240542006 Genital warts SNOMEDCT_2005_07_31:154365004 venereal wart CSP2005:2020-4312 Condyloma acuminatum ICD9CM_2006:078.11 An anogenital venereal wart that results_in infection located_in mucosa of vagina, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom vaginal warts. vaginal Condyloma Acuminatum disease_ontology DOID:11169 vaginal condylomata acuminata true An anogenital venereal wart that results_in infection located_in mucosa of vagina, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom vaginal warts. url:http://emedicine.medscape.com/article/781735-overview vaginal Condyloma Acuminatum NCI2004_11_17:C4947 An anogenital venereal wart that results_in infection located_in skin of vulva, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom vulvar warts. Condyloma acuminata of vulva (disorder) Vulvar Condyloma disease_ontology DOID:11170 vulvar condylomata acuminata true An anogenital venereal wart that results_in infection located_in skin of vulva, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom vulvar warts. url:http://emedicine.medscape.com/article/781735-overview Condyloma acuminata of vulva (disorder) SNOMEDCT_2005_07_31:237110007 Vulvar Condyloma NCI2004_11_17:C4382 An anogenital venereal wart that results_in infection located_in skin of urethra, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom urethral warts. urethral Condylomata disease_ontology DOID:11171 urethral condylomata acuminata true An anogenital venereal wart that results_in infection located_in skin of urethra, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom urethral warts. url:http://emedicine.medscape.com/article/781735-overview urethral Condylomata NCI2004_11_17:C6169 An anogenital venereal wart that results_in infection located_in skin of anus, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during anal sex with an infected partner. The infection has_symptom anal warts. Condylomata of anus disease_ontology DOID:11172 anal condylomata acuminata true An anogenital venereal wart that results_in infection located_in skin of anus, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during anal sex with an infected partner. The infection has_symptom anal warts. url:http://emedicine.medscape.com/article/781735-overview Condylomata of anus NCI2004_11_17:C4054 ICD10CM:H05.4 ICD10CM:H05.40 ICD9CM:376.5 ICD9CM:376.50 MESH:D015841 NCI:C79552 SNOMEDCT_US_2016_03_01:155200004 SNOMEDCT_US_2016_03_01:194031000 SNOMEDCT_US_2016_03_01:267746003 SNOMEDCT_US_2016_03_01:80093006 UMLS_CUI:C0014306 disease_ontology DOID:11175 enophthalmos ICD9CM:367.52 SNOMEDCT_US_2016_03_01:193630009 SNOMEDCT_US_2016_03_01:86266009 UMLS_CUI:C0152197 disease_ontology DOID:11177 total internal ophthalmoplegia A non-suppurative otitis media which is a collection of fluid that occurs in the middle ear space as a result of the negative pressure produced by altered Eustachian tube function. This can occur from viral upper respiratory infection or bacterial infection, or it can precede and/or follow acute bacterial otitis media. Glue ear Mucoid otitis media Mucoid otitis media NOS (disorder) Otitis media with effusion Otitis media with effusion - mucoid Otitis media, transudative Secretory Otitis Media Transudative otitis media disease_ontology DOID:11179 otitis media with effusion true A non-suppurative otitis media which is a collection of fluid that occurs in the middle ear space as a result of the negative pressure produced by altered Eustachian tube function. This can occur from viral upper respiratory infection or bacterial infection, or it can precede and/or follow acute bacterial otitis media. url:http://en.wikipedia.org/wiki/Otitis_media#Otitis_media_with_effusion Glue ear MTHICD9_2006:381.2 Glue ear SNOMEDCT_2005_07_31:194251006 Mucoid otitis media SNOMEDCT_2005_07_31:155220003 Mucoid otitis media SNOMEDCT_2005_07_31:267754001 Mucoid otitis media SNOMEDCT_2005_07_31:62450001 Mucoid otitis media NOS (disorder) SNOMEDCT_2005_07_31:194264007 Otitis media with effusion SNOMEDCT_2005_07_31:232255003 Otitis media with effusion - mucoid SNOMEDCT_2005_07_31:78868004 Otitis media, transudative MTHICD9_2006:381.4 Secretory Otitis Media NCI2004_11_17:C34886 Transudative otitis media SNOMEDCT_2005_07_31:43481006 A otitis media which involves transudation of fluid in the middle ear without pus formation. ICD10CM:H65 ICD10CM:H65.9 ICD10CM:H65.90 ICD9CM:381.4 SNOMEDCT_US_2016_03_01:194260003 SNOMEDCT_US_2016_03_01:194265008 SNOMEDCT_US_2016_03_01:267753007 SNOMEDCT_US_2016_03_01:275481002 SNOMEDCT_US_2016_03_01:45935001 UMLS_CUI:C0271446 Nonsuppurative otitis media disease_ontology DOID:11180 non-suppurative otitis media A otitis media which involves transudation of fluid in the middle ear without pus formation. url:http://www.ncbi.nlm.nih.gov/sites/entrez/1195971 Nonsuppurative otitis media SNOMEDCT_2005_07_31:45935001 A non-suppurative otitis media that is characterized by effusion with very thick and glue-like middle ear fluid which may cause conductive hearing impairment. ICD10CM:H65.2 ICD10CM:H65.20 ICD9CM:381.1 SNOMEDCT_US_2016_03_01:155219009 SNOMEDCT_US_2016_03_01:194245001 SNOMEDCT_US_2016_03_01:194250007 SNOMEDCT_US_2016_03_01:81564005 UMLS_CUI:C0155421 disease_ontology DOID:11181 serous glue ear A non-suppurative otitis media that is characterized by effusion with very thick and glue-like middle ear fluid which may cause conductive hearing impairment. url:http://en.wikipedia.org/wiki/Otitis_media#Otitis_media_with_effusion A non-suppurative otitis media and eustachian tube disorder which is persistent and long-lasting. disease_ontology DOID:11182 chronic otitis media with effusion true A non-suppurative otitis media and eustachian tube disorder which is persistent and long-lasting. url:http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA127&lpg#v=onepage&q=&f=false Hemophilus influenzae septicemia (disorder) Septicemia due to H. influenzae Septicemia due to hemophilus influenzae [H. influenzae] disease_ontology DOID:11183 Haemophilus influenzae septicemia true Hemophilus influenzae septicemia (disorder) SNOMEDCT_2005_07_31:23863009 Septicemia due to H. influenzae MTHICD9_2006:038.41 Septicemia due to hemophilus influenzae [H. influenzae] ICD9CM_2006:038.41 ICD10CM:H10.02 ICD9CM:372.03 UMLS_CUI:C0029668 disease_ontology DOID:11184 acute conjunctivitis A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Pseudallescheria boydii, which results_in_formation_of abscesses. ICD10CM:B48.2 ICD9CM:117.6 SNOMEDCT_US_2016_03_01:80936003 UMLS_CUI:C0153285 Petriellidosis disease_ontology DOID:11186 allescheriosis A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Pseudallescheria boydii, which results_in_formation_of abscesses. url:http://www.biomedsearch.com/nih/Disseminated-petriellidosis-allescheriosis/345997.html url:http://www.ncbi.nlm.nih.gov/sites/entrez/934264 Petriellidosis MTHICD9_2006:117.6 ICD10CM:K04.2 ICD9CM:522.2 NCI:C34962 SNOMEDCT_US_2016_03_01:196335003 SNOMEDCT_US_2016_03_01:22361007 UMLS_CUI:C0034100 disease_ontology DOID:11189 pulp degeneration DOID:10214 DOID:1118 Excessive fetal growth affecting management of mother, delivered Excessive fetal growth, affecting management of mother, antepartum Excessive fetal growth, affecting management of mother, delivered antepartum excessive fetal growth affecting management of mother disease_ontology DOID:1119 large for dates affecting management of mother true Excessive fetal growth, affecting management of mother, antepartum ICD9CM_2006:656.63 Excessive fetal growth, affecting management of mother, delivered ICD9CM_2006:656.61 A acute conjunctivitis which involves a fibrin-rich exudate formation on the surface of the conjunctiva. Infectious causes of pseudomembranes include Corynebacterium diphtheriae, streptococci, pneumococci, herpes simplex virus, adenovirus, Chlamydia and gonococci. Other causes include chemical (alkali) irritants, erythema multiforme, and ocular pemphigoid. ICD10CM:H10.22 ICD9CM:372.04 NCI:C35196 SNOMEDCT_US_2016_03_01:193862009 SNOMEDCT_US_2016_03_01:267643002 SNOMEDCT_US_2016_03_01:72115001 UMLS_CUI:C0155144 disease_ontology DOID:11190 pseudomembranous conjunctivitis A acute conjunctivitis which involves a fibrin-rich exudate formation on the surface of the conjunctiva. Infectious causes of pseudomembranes include Corynebacterium diphtheriae, streptococci, pneumococci, herpes simplex virus, adenovirus, Chlamydia and gonococci. Other causes include chemical (alkali) irritants, erythema multiforme, and ocular pemphigoid. url:http://bjo.bmj.com/content/55/5/312.full.pdf url:http://www.ncbi.nlm.nih.gov/pubmed/9400798 A synostosis that results_in the fusion of two or more digits. ICD10CM:Q70 ICD10CM:Q70.9 ICD9CM:755.1 MESH:D013576 NCI:C87125 OMIM:185900 OMIM:186100 OMIM:186200 OMIM:186300 ORDO:295012 ORDO:90025 ORDO:93402 ORDO:93403 ORDO:93404 ORDO:93406 SNOMEDCT_US_2016_03_01:111313001 SNOMEDCT_US_2016_03_01:156989004 SNOMEDCT_US_2016_03_01:205151006 SNOMEDCT_US_2016_03_01:253975004 SNOMEDCT_US_2016_03_01:268252004 SNOMEDCT_US_2016_03_01:373413006 SNOMEDCT_US_2016_03_01:75352001 UMLS_CUI:C0039075 chromosome 2q35 duplication syndrome symphalangism symphalangy webbing of digits disease_ontology DOID:11193 Xref MGI. syndactyly A synostosis that results_in the fusion of two or more digits. url:http://emedicine.medscape.com/article/1244420-overview url:http://en.wikipedia.org/wiki/Syndactyly url:http://www.hmc.psu.edu/healthinfo/pq/poly.htm url:http://www.wheelessonline.com/ortho/syndactyly chromosome 2q35 duplication syndrome OMIM:185900 symphalangism SNOMEDCT_2005_07_31:253975004 symphalangy SNOMEDCT_2005_07_31:75352001 webbing of digits MTHICD9_2006:755.1 An upper respiratory tract disease which involves inflammation of both larynx and pharynx. ICD10CM:J06.0 ICD9CM:465.0 SNOMEDCT_US_2016_03_01:55355000 UMLS_CUI:C0155817 disease_ontology DOID:11195 acute laryngopharyngitis An upper respiratory tract disease which involves inflammation of both larynx and pharynx. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=laryngopharyngitis ICD10CM:H10.23 ICD9CM:372.01 SNOMEDCT_US_2016_03_01:9824006 UMLS_CUI:C0155142 serous conjunctivitis, except viral disease_ontology DOID:11197 serous conjunctivitis except viral serous conjunctivitis, except viral SNOMEDCT_2005_07_31:9824006 A T cell deficiency disease that is the result of a large deletion of chromosome 22 which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production. ICD10CM:D82.1 ICD9CM:279.11 MESH:D004062 NCI:C2989 OMIM:188400 SNOMEDCT_US_2016_03_01:190991007 SNOMEDCT_US_2016_03_01:77128003 UMLS_CUI:C0012236 DiGeorge sequence (disorder) DiGeorge's syndrome Pharyngeal pouch syndrome disease_ontology DOID:11198 OMIM mapping confirmed by DO. [SN]. DiGeorge syndrome A T cell deficiency disease that is the result of a large deletion of chromosome 22 which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production. url:http://www.merriam-webster.com/medlineplus/DiGeorge%20syndrome url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gnd&part=digeorgesyndrome DiGeorge sequence (disorder) SNOMEDCT_2005_07_31:77128003 DiGeorge's syndrome NCI2004_11_17:C2989 Pharyngeal pouch syndrome MTHICD9_2006:279.11 A parathyroid gland disease characterized by decreased function of parathyroid glands with underproduction of parathyroid hormone (PTH), leading to abnormally low ionized calcium levels in the blood. ICD10CM:E20 ICD10CM:E20.9 ICD9CM:252.1 MESH:D007011 NCI:C78350 OMIM:146200 OMIM:307700 ORDO:2238 SNOMEDCT_US_2016_03_01:154697005 SNOMEDCT_US_2016_03_01:190457001 SNOMEDCT_US_2016_03_01:267479004 SNOMEDCT_US_2016_03_01:36976004 UMLS_CUI:C0020626 disease_ontology DOID:11199 Xref MGI. hypoparathyroidism A parathyroid gland disease characterized by decreased function of parathyroid glands with underproduction of parathyroid hormone (PTH), leading to abnormally low ionized calcium levels in the blood. url:http://en.wikipedia.org/wiki/Hypoparathyroidism url:http://ghr.nlm.nih.gov/glossary=hypoparathyroidism url:http://www.mayoclinic.org/diseases-conditions/hypoparathyroidism/basics/definition/con-20030780?_ga=1.221847067.2017809229.1415219956 DOID:111 DOID:13536 DOID:14031 ICD10CM:I85.01 ICD9CM:456.0 ICD9CM:456.2 ICD9CM:456.20 NCI:C78282 SNOMEDCT_US_2016_03_01:17709002 SNOMEDCT_US_2016_03_01:195474004 SNOMEDCT_US_2016_03_01:195475003 SNOMEDCT_US_2016_03_01:195479009 SNOMEDCT_US_2016_03_01:195643006 SNOMEDCT_US_2016_03_01:236067006 UMLS_CUI:C0155789 UMLS_CUI:C0155791 UMLS_CUI:C0155792 Bleeding esophageal varices Bleeding esophageal varices (disorder) Bleeding oesophageal varices esophageal varices esophageal varices in disease classified elsewhere, with bleeding esophageal varices with bleeding esophageal varices with bleeding in disease EC (disorder) esophageal varices without bleeding esophageal varices without bleeding (disorder) esophageal varices without mention of bleeding disease_ontology DOID:112 esophageal varix Bleeding esophageal varices (disorder) SNOMEDCT_2005_07_31:17709002 Bleeding oesophageal varices SNOMEDCT_2005_07_31:236067006 esophageal varices in disease classified elsewhere, with bleeding ICD9CM_2006:456.20 esophageal varices with bleeding ICD9CM_2006:456.0 esophageal varices with bleeding in disease EC (disorder) SNOMEDCT_2005_07_31:195475003 esophageal varices without bleeding (disorder) SNOMEDCT_2005_07_31:14223005 esophageal varices without mention of bleeding ICD9CM_2006:456.1 NCI:C27872 UMLS_CUI:C1333147 disease_ontology DOID:11200 T cell deficiency An endocrine system disease that is located_in the parathyroid gland. ICD10CM:E21.5 ICD9CM:252 ICD9CM:252.9 MESH:D010279 NCI:C26844 SNOMEDCT_US_2016_03_01:190462000 SNOMEDCT_US_2016_03_01:267478007 SNOMEDCT_US_2016_03_01:73132005 UMLS_CUI:C0030517 disease of parathyroid glands disease_ontology DOID:11201 parathyroid gland disease An endocrine system disease that is located_in the parathyroid gland. url:http://en.wikipedia.org/wiki/Parathyroid_disease DOID:14790 ICD10CM:E21.0 ICD9CM:252.01 MESH:D049950 NCI:C48280 OMIM:600166 ORDO:99878 SNOMEDCT_US_2016_03_01:190452007 SNOMEDCT_US_2016_03_01:237653008 SNOMEDCT_US_2016_03_01:36348003 SNOMEDCT_US_2016_03_01:54920000 UMLS_CUI:C0221002 UMLS_CUI:C0271846 familial benign hypercalcemia (disorder) familial primary hyperparathyroidism primary hyperparathyroidism (disorder) disease_ontology DOID:11202 Xref MGI. primary hyperparathyroidism familial benign hypercalcemia (disorder) SNOMEDCT_2005_07_31:190868007 primary hyperparathyroidism (disorder) SNOMEDCT_2005_07_31:36348003 ICD10CM:H10.1 ICD9CM:372.05 NCI:C34353 SNOMEDCT_US_2016_03_01:193863004 SNOMEDCT_US_2016_03_01:67678004 UMLS_CUI:C0001309 Angelucci syndrome acute atopic conjunctivitis disease_ontology DOID:11203 Angelucci's syndrome acute atopic conjunctivitis SNOMEDCT_2005_07_31:193863004 A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant. MESH:D003233 NCI:C34506 SNOMEDCT_US_2016_03_01:155168003 SNOMEDCT_US_2016_03_01:193868008 SNOMEDCT_US_2016_03_01:20212001 SNOMEDCT_US_2016_03_01:231854006 SNOMEDCT_US_2016_03_01:473460002 UMLS_CUI:C0009766 disease_ontology DOID:11204 allergic conjunctivitis A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant. ls:IEDB url:http://en.wikipedia.org/wiki/Allergic_conjunctivitis A substance abuse that involves the recurring use of opioid drugs despite negative consequences. ICD10CM:F11.1 ICD9CM:305.5 SNOMEDCT_US_2016_03_01:5602001 UMLS_CUI:C0029095 disease_ontology DOID:11206 opioid abuse A substance abuse that involves the recurring use of opioid drugs despite negative consequences. url:http://en.wikipedia.org/wiki/Opioid ICD9CM:743.21 OMIM:231300 SNOMEDCT_US_2016_03_01:13832009 SNOMEDCT_US_2016_03_01:204116009 SNOMEDCT_US_2016_03_01:268157004 UMLS_CUI:C0311251 simple buphthalmos disease_ontology DOID:11211 OMIM mapping confirmed by DO. [LS]. buphthalmos simple buphthalmos SNOMEDCT_2005_07_31:268157004 ICD10CM:Q15.0 ICD9CM:743.2 ICD9CM:743.20 MESH:D006871 NCI:C50648 SNOMEDCT_US_2016_03_01:13832009 SNOMEDCT_US_2016_03_01:156898000 SNOMEDCT_US_2016_03_01:204111004 SNOMEDCT_US_2016_03_01:204112006 SNOMEDCT_US_2016_03_01:204113001 SNOMEDCT_US_2016_03_01:204114007 SNOMEDCT_US_2016_03_01:204115008 SNOMEDCT_US_2016_03_01:204121007 SNOMEDCT_US_2016_03_01:392368005 SNOMEDCT_US_2016_03_01:392371002 SNOMEDCT_US_2016_03_01:413728006 UMLS_CUI:C0020302 disease_ontology DOID:11212 hydrophthalmos NCI:C35704 SNOMEDCT_US_2016_03_01:155162002 SNOMEDCT_US_2016_03_01:17482009 SNOMEDCT_US_2016_03_01:240066005 SNOMEDCT_US_2016_03_01:267734002 SNOMEDCT_US_2016_03_01:399047004 SNOMEDCT_US_2016_03_01:399219006 UMLS_CUI:C1313983 Contagious opthalmia Pink eye Pinkeye disease_ontology DOID:11213 acute contagious conjunctivitis Contagious opthalmia SNOMEDCT_2005_07_31:399047004 Pink eye SNOMEDCT_2005_07_31:267734002 Pinkeye SNOMEDCT_2005_07_31:399219006 DOID:12565 DOID:14540 Premature rupture of membranes - delivered (disorder) antepartum premature rupture of membranes delivered premature rupture of membranes disease_ontology DOID:11215 premature rupture of the fetal membranes true Premature rupture of membranes - delivered (disorder) SNOMEDCT_2005_07_31:199658006 ICD10CM:H73.1 ICD10CM:H73.10 ICD9CM:384.1 SNOMEDCT_US_2016_03_01:89723004 UMLS_CUI:C0395849 disease_ontology DOID:11217 chronic tympanitis ICD10CM:H10.01 ICD9CM:372.02 SNOMEDCT_US_2016_03_01:41308008 UMLS_CUI:C0155143 acute follicular conjunctivitis disease_ontology DOID:11219 conjunctival folliculosis acute follicular conjunctivitis ICD9CM_2006:372.02 Spinal enthesopathy (disorder) disease_ontology DOID:1122 spinal enthesopathy true Spinal enthesopathy (disorder) SNOMEDCT_2005_07_31:10317009 DOID:11224 ICD9CM:562.02 SNOMEDCT_US_2016_03_01:435061000124102 UMLS_CUI:C0156164 Diverticulosis of small intestine with hemorrhage disease_ontology DOID:11223 small intestine diverticulitis A viral infectious disease that results_in inflammation located in conjunctiva, has_material_basis_in Human coxsackievirus A24 or has_material_basis_in Human enterovirus 70, which are transmitted_by contaminated fomites or transmitted_by contact with contaminated hands. The infection has_symptom vascular dilation, has_symptom eyelid edema, has_symptom photophobia, has_symptom redness of the eyes, has_symptom watering of the eye, has_symptom conjunctival congestion, and has_symptom superficial punctate epithelial keratitis. ICD9CM:077.4 MESH:D003232 NCI:C34505 SNOMEDCT_US_2016_03_01:186677009 SNOMEDCT_US_2016_03_01:31502007 SNOMEDCT_US_2016_03_01:398264003 SNOMEDCT_US_2016_03_01:398273006 UMLS_CUI:C0009765 Apollo disease Epidemic hemorrhagic conjunctivitis disease_ontology viral conjunctivitis DOID:11227 acute hemorrhagic conjunctivitis A viral infectious disease that results_in inflammation located in conjunctiva, has_material_basis_in Human coxsackievirus A24 or has_material_basis_in Human enterovirus 70, which are transmitted_by contaminated fomites or transmitted_by contact with contaminated hands. The infection has_symptom vascular dilation, has_symptom eyelid edema, has_symptom photophobia, has_symptom redness of the eyes, has_symptom watering of the eye, has_symptom conjunctival congestion, and has_symptom superficial punctate epithelial keratitis. url:http://www.cdc.gov/mmwr/preview/mmwrhtml/mm5328a2.htm url:http://www.cdc.gov/ncidod/eid/vol5no2/maitreyi.htm url:http://www.doh.state.fl.us/disease_ctrl/epi/htopics/reports/ahcpres.pdf Apollo disease MTHICD9_2006:077.4 Epidemic hemorrhagic conjunctivitis ICD9CM_2006:077.4 MESH:D025242 OMIM:106300 SNOMEDCT_US_2016_03_01:357182002 SNOMEDCT_US_2016_03_01:359173000 SNOMEDCT_US_2016_03_01:372109003 SNOMEDCT_US_2016_03_01:8847002 UMLS_CUI:C0949691 spondarthropathy spondylarthrosis disease_ontology DOID:1123 spondyloarthropathy spondarthropathy SNOMEDCT_2005_07_31:359173000 ICD10CM:H05.0 ICD10CM:H05.00 ICD9CM:376.0 ICD9CM:376.00 SNOMEDCT_US_2016_03_01:194004003 SNOMEDCT_US_2016_03_01:194006001 SNOMEDCT_US_2016_03_01:20551005 UMLS_CUI:C0155256 acute inflammation of orbit disease_ontology DOID:11230 acute orbital inflammation acute inflammation of orbit ICD9CM_2006:376.0 ICD10CM:H05.03 ICD9CM:376.02 SNOMEDCT_US_2016_03_01:65974003 UMLS_CUI:C0155257 disease_ontology DOID:11231 orbital periostitis ICD10CM:H05.02 ICD9CM:376.03 SNOMEDCT_US_2016_03_01:65875003 UMLS_CUI:C0155258 orbital osteomyelitis disease_ontology DOID:11232 orbital osteomyelitis orbital osteomyelitis SNOMEDCT_2005_07_31:65875003 ICD9CM:376.04 SNOMEDCT_US_2016_03_01:8976003 UMLS_CUI:C0155259 Tenonitis disease_ontology DOID:11233 orbital tenonitis Tenonitis SNOMEDCT_2005_07_31:8976003 ICD10CM:H05.01 ICD9CM:376.01 MESH:D054517 NCI:C99000 SNOMEDCT_US_2016_03_01:194005002 UMLS_CUI:C0149507 orbital cellulitis disease_ontology DOID:11234 orbital cellulitis orbital cellulitis SNOMEDCT_2005_07_31:194005002 An auditory system disease that is characterized by a thin retracted ear drum becomes sucked into the middle-ear space and stuck (i.e., adherent) to the ossicles and other bones of the middle ear. ICD10CM:H74.1 ICD9CM:385.1 ICD9CM:385.10 SNOMEDCT_US_2016_03_01:194330006 SNOMEDCT_US_2016_03_01:194331005 SNOMEDCT_US_2016_03_01:7699004 UMLS_CUI:C0155478 chronic adhesive otitis media disease_ontology DOID:11235 adhesive otitis media An auditory system disease that is characterized by a thin retracted ear drum becomes sucked into the middle-ear space and stuck (i.e., adherent) to the ossicles and other bones of the middle ear. url:https://en.wikipedia.org/wiki/Otitis_media#Adhesive_otitis_media A intestinal cancer that is located_in the appendix. ICD10CM:C18.1 ICD9CM:153.5 MESH:D001063 NCI:C9333 SNOMEDCT_US_2016_03_01:363411007 SNOMEDCT_US_2016_03_01:93679002 UMLS_CUI:C0496779 cancer of the appendix malignant neoplasm of appendix vermiformis malignant tumor of appendix (disorder) malignant tumor of the appendix disease_ontology DOID:11239 appendix cancer A intestinal cancer that is located_in the appendix. url:http://en.wikipedia.org/wiki/Vermiform_appendix cancer of the appendix NCI2004_11_17:C9330 malignant neoplasm of appendix vermiformis ICD9CM_2006:153.5 malignant tumor of appendix (disorder) SNOMEDCT_2005_07_31:363411007 malignant tumor of the appendix NCI2004_11_17:C9333 MESH:D001063 NCI:C4434 SNOMEDCT_US_2016_03_01:126846004 UMLS_CUI:C0003614 appendix neoplasm neoplasm of appendix (disorder) disease_ontology DOID:11240 appendiceal neoplasm appendix neoplasm NCI2004_11_17:C4434 neoplasm of appendix (disorder) SNOMEDCT_2005_07_31:126846004 NCI:C5513 UMLS_CUI:C1332328 Appendiceal Lymphoma disease_ontology DOID:11241 appendix lymphoma Appendiceal Lymphoma NCI2004_11_17:C5513 ICD10CM:P61.1 ICD9CM:776.4 NCI:C27069 SNOMEDCT_US_2016_03_01:206518001 SNOMEDCT_US_2016_03_01:32984002 SNOMEDCT_US_2016_03_01:9170001 UMLS_CUI:C0272153 Neonatal polycythemia (disorder) disease_ontology DOID:11242 plethora of newborn Neonatal polycythemia (disorder) SNOMEDCT_2005_07_31:32984002 ICD10CM:P61.2 ICD9CM:776.6 NCI:C97167 SNOMEDCT_US_2016_03_01:47100003 UMLS_CUI:C0158996 Anemia of prematurity (disorder) disease_ontology DOID:11243 anemia of prematurity Anemia of prematurity (disorder) SNOMEDCT_2005_07_31:47100003 MESH:D000751 SNOMEDCT_US_2016_03_01:111468003 SNOMEDCT_US_2016_03_01:234350007 SNOMEDCT_US_2016_03_01:276577009 SNOMEDCT_US_2016_03_01:33130007 UMLS_CUI:C0002891 anemia neonatal disease_ontology DOID:11244 neonatal anemia anemia neonatal MTH:NOCODE ICD10CM:P61.5 ICD9CM:776.7 SNOMEDCT_US_2016_03_01:206520003 SNOMEDCT_US_2016_03_01:55444004 UMLS_CUI:C0158997 Transient neonatal neutropenia (disorder) Transient neonatal neutropenia NOS (disorder) disease_ontology DOID:11245 transient neonatal neutropenia Transient neonatal neutropenia (disorder) SNOMEDCT_2005_07_31:55444004 Transient neonatal neutropenia NOS (disorder) SNOMEDCT_2005_07_31:206520003 ICD10CM:P60 ICD9CM:776.2 NCI:C111856 SNOMEDCT_US_2016_03_01:34417008 UMLS_CUI:C0158992 Disseminated intravascular coagulation in newborn Disseminated intravascular coagulation in newborn (disorder) disease_ontology DOID:11246 DIC in newborn Disseminated intravascular coagulation in newborn ICD9CM_2006:776.2 Disseminated intravascular coagulation in newborn (disorder) SNOMEDCT_2005_07_31:34417008 ICD10CM:D65 ICD9CM:286.6 MESH:D004211 NCI:C2992 SNOMEDCT_US_2016_03_01:267563002 SNOMEDCT_US_2016_03_01:67406007 UMLS_CUI:C0012739 DIC Defibrination syndrome Diffuse or disseminated intravascular coagulation disease_ontology DOID:11247 disseminated intravascular coagulation DIC NCI2004_11_17:C2992 Defibrination syndrome ICD9CM_2006:286.6 Diffuse or disseminated intravascular coagulation MTHICD9_2006:286.6 Hemorrhagic diathesis of newborn Hemorrhagic disease of newborn Hemorrhagic disease of the newborn due to vitamin K deficiency (disorder) hemorrhagic disease of newborn disease_ontology DOID:11248 hemorrhagic disease of newborn true Hemorrhagic diathesis of newborn MTHICD9_2006:776.0 Hemorrhagic disease of newborn ICD9CM_2006:776.0 Hemorrhagic disease of the newborn due to vitamin K deficiency (disorder) SNOMEDCT_2005_07_31:12546009 hemorrhagic disease of newborn CSP2005:0427-5157 ICD10CM:E56.1 ICD9CM:269.0 MESH:D014813 NCI:C99108 SNOMEDCT_US_2016_03_01:124892003 SNOMEDCT_US_2016_03_01:52675005 UMLS_CUI:C0042880 deficiency of vitamin K deficiency of vitamin K (disorder) vitamin K deficiency vitamin K deficiency (disorder) disease_ontology DOID:11249 vitamin K deficiency hemorrhagic disease deficiency of vitamin K ICD9CM_2006:269.0 deficiency of vitamin K (disorder) SNOMEDCT_2005_07_31:124892003 vitamin K deficiency CSP2005:2116-7764 vitamin K deficiency (disorder) SNOMEDCT_2005_07_31:52675005 MESH:C562385 NCI:C35141 OMIM:206200 SNOMEDCT_US_2016_03_01:154787005 SNOMEDCT_US_2016_03_01:234349007 SNOMEDCT_US_2016_03_01:267553005 UMLS_CUI:C0085576 disease_ontology DOID:11252 OMIM mapping confirmed by DO. [SN]. microcytic anemia An epidemic typhus that is a mild form of the disease, which recurs in someone after a long period of latency due to immunosuppression, malnutrition or other illnesses. ICD10CM:A75.1 ICD9CM:081.1 MESH:D014438 SNOMEDCT_US_2016_03_01:47761007 UMLS_CUI:C0006181 Brill Zinsser disease Brill's disease Brill-Zinsser disease (disorder) Recrudescent typhus disease_ontology Latent typhus Sporadic typhus DOID:11254 Brill-Zinsser disease An epidemic typhus that is a mild form of the disease, which recurs in someone after a long period of latency due to immunosuppression, malnutrition or other illnesses. url:http://en.wikipedia.org/wiki/Epidemic_typhus Brill Zinsser disease CSP2005:2623-8052 Brill's disease ICD9CM_2006:081.1 Brill-Zinsser disease (disorder) SNOMEDCT_2005_07_31:47761007 Recrudescent typhus MTHICD9_2006:081.1 A primary bacterial infectious disease that refers to a group of diseases, located_in endothelial cells of the small venous, arterial, and capillary vessels, has_material_basis_in Rickettsia bacteria, which are transmitted_by lice, transmitted_by fleas, and transmitted_by mites. DOID:11255 DOID:12353 ICD10CM:A75 ICD10CM:A75.0 ICD10CM:A75.2 ICD10CM:A75.9 ICD9CM:080 ICD9CM:081.0 ICD9CM:081.9 MESH:D014437 MESH:D014438 NCI:C84688 NCI:C84689 SNOMEDCT_US_2016_03_01:154375001 SNOMEDCT_US_2016_03_01:187383009 SNOMEDCT_US_2016_03_01:25668000 SNOMEDCT_US_2016_03_01:266205000 SNOMEDCT_US_2016_03_01:39111003 SNOMEDCT_US_2016_03_01:414263007 SNOMEDCT_US_2016_03_01:83838002 UMLS_CUI:C0041471 UMLS_CUI:C0041472 UMLS_CUI:C0041473 Endemic Typhus fever Exanthematic Typhus fever Flea typhus Louse-borne [epidemic] typhus Murine [endemic] typhus Typhus fever endemic flea-borne typhus epidemic louse-borne typhus disease_ontology Classical typhus (fever) Epidemic (louse-borne) typhus Epidemic louse-borne typhus fever due to Rickettsia prowazekii European typhus Exanthematous typhus Famine fever Flea-borne rickettsiosis Flea-borne typhus Hospital fever Jail fever Louse-borne rickettsiosis Louse-borne typhus Mexican typhus Moscow typhus Murine typhus Petechial fever Prison fever Rat flea typhus Ship fever Shop typhus Typhus exanthematique Urban typhus DOID:11256 typhus A primary bacterial infectious disease that refers to a group of diseases, located_in endothelial cells of the small venous, arterial, and capillary vessels, has_material_basis_in Rickettsia bacteria, which are transmitted_by lice, transmitted_by fleas, and transmitted_by mites. url:http://emedicine.medscape.com/article/231374-overview#a0104 Endemic Typhus fever MTHICD9_2006:081.0 Exanthematic Typhus fever MTHICD9_2006:080 Flea typhus SNOMEDCT_2005_07_31:414263007 Louse-borne [epidemic] typhus ICD9CM_2006:080 Murine [endemic] typhus ICD9CM_2006:081.0 Typhus fever SNOMEDCT_2005_07_31:187383009 A phobic disorder that involves social anxiety occurring only in specific public or social situations, interactions with others or being evaluated or scrutinized by other people. ICD10CM:F40.1 ICD10CM:F40.10 ICD9CM:300.23 MESH:D010698 NCI:C34927 SNOMEDCT_US_2016_03_01:191720001 SNOMEDCT_US_2016_03_01:192395002 SNOMEDCT_US_2016_03_01:25501002 UMLS_CUI:C0031572 disease_ontology DOID:11257 social phobia A phobic disorder that involves social anxiety occurring only in specific public or social situations, interactions with others or being evaluated or scrutinized by other people. url:http://en.wikipedia.org/wiki/Social_phobia A bartonellosis that results_in infection located_in lymph node, has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella clarridgeiae, which are transmitted_by scratch or bite of a kitten, or transmitted_by contact of animal's saliva with an eye or through broken skin. The infection has_symptom regional lymphadenopathy, has_symptom headache, has_symptom chills, has_symptom backache, and has_symptom abdominal pain. ICD10CM:A28.1 ICD9CM:078.3 MESH:D002372 NCI:C84620 SNOMEDCT_US_2016_03_01:123319006 SNOMEDCT_US_2016_03_01:154370006 SNOMEDCT_US_2016_03_01:266202002 SNOMEDCT_US_2016_03_01:79974007 UMLS_CUI:C0007361 Debre's Syndrome Debre-Mollaret Syndrome Foshay-Mollaret Cat Scratch Fever benign lymphoreticulosis cat scratch fever disease_ontology DOID:11258 cat-scratch disease A bartonellosis that results_in infection located_in lymph node, has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella clarridgeiae, which are transmitted_by scratch or bite of a kitten, or transmitted_by contact of animal's saliva with an eye or through broken skin. The infection has_symptom regional lymphadenopathy, has_symptom headache, has_symptom chills, has_symptom backache, and has_symptom abdominal pain. url:http://en.wikipedia.org/wiki/Cat_scratch_disease url:http://kidshealth.org/parent/infections/bacterial_viral/cat_scratch.html# benign lymphoreticulosis MTHICD9_2006:078.3 A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Cytomegalovirus, which is transmitted_by contact with the infected person's bodily fluids or transmitted_by sexual contact, or transmitted_by blood transfusions. Cytomagalovirus infection Cytomegaloviral disease Cytomegaloviral disease, unspecified Cytomegaloviral disease, unspecified (disorder) Cytomegalovirus infection (disorder) Salivary gland virus disease cytomegalovirus infection disease_ontology DOID:11259 Cytomegalovirus infectious disease true A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Cytomegalovirus, which is transmitted_by contact with the infected person's bodily fluids or transmitted_by sexual contact, or transmitted_by blood transfusions. url:http://en.wikipedia.org/wiki/Cytomegalovirus Cytomagalovirus infection SNOMEDCT_2005_07_31:266203007 Cytomegaloviral disease ICD9CM_2006:078.5 Cytomegaloviral disease, unspecified SNOMEDCT_2005_07_31:186699001 Cytomegaloviral disease, unspecified (disorder) SNOMEDCT_2005_07_31:187456009 Cytomegalovirus infection (disorder) SNOMEDCT_2005_07_31:28944009 Salivary gland virus disease MTHICD9_2006:078.5 Salivary gland virus disease SNOMEDCT_2005_07_31:186695007 cytomegalovirus infection CSP2005:3099-9294 A viral infectious disease that results_in inflammation located_in brain or located_in spinal cord, has_material_basis_in Rabies virus, which is transmitted_by bite of an infected animal, or transmitted_by contact of mucous membranes with saliva of an infected animal. The infection has_symptom fever, has_symptom headache, has_symptom prickling or itching sensation at the site of bite, has_symptom anxiety, has_symptom confusion, has_symptom agitation, has_symptom delirium, has_symptom difficulty swallowing, has_symptom hydrophobia, and has_symptom paralysis. ICD10CM:A82 ICD10CM:A82.9 ICD9CM:071 MESH:D011818 NCI:C28182 SNOMEDCT_US_2016_03_01:14168008 SNOMEDCT_US_2016_03_01:186644005 SNOMEDCT_US_2016_03_01:187393002 SNOMEDCT_US_2016_03_01:275370001 UMLS_CUI:C0034494 Lyssa disease_ontology DOID:11260 rabies A viral infectious disease that results_in inflammation located_in brain or located_in spinal cord, has_material_basis_in Rabies virus, which is transmitted_by bite of an infected animal, or transmitted_by contact of mucous membranes with saliva of an infected animal. The infection has_symptom fever, has_symptom headache, has_symptom prickling or itching sensation at the site of bite, has_symptom anxiety, has_symptom confusion, has_symptom agitation, has_symptom delirium, has_symptom difficulty swallowing, has_symptom hydrophobia, and has_symptom paralysis. url:http://en.wikipedia.org/wiki/Rabies url:http://wwwnc.cdc.gov/travel/yellowbook/2010/chapter-2/rabies.aspx Lyssa MTHICD9_2006:071 A viral infectious disease that results_in infection in cattle and swine, has_material_basis_in Foot-and-mouth disease virus, which is transmitted_by contaminated fomites, or transmitted_by ingestion of food contaminated with infected meat or animal products. The infection results_in_formation_of vesicles in the mouth, or on the feet and has_symptom lameness. Epizootic stomatitis disease_ontology DOID:11261 foot and mouth disease true A viral infectious disease that results_in infection in cattle and swine, has_material_basis_in Foot-and-mouth disease virus, which is transmitted_by contaminated fomites, or transmitted_by ingestion of food contaminated with infected meat or animal products. The infection results_in_formation_of vesicles in the mouth, or on the feet and has_symptom lameness. url:http://www.aphis.usda.gov/publications/animal_health/content/printable_version/fs_foot_mouth_disease07.pdf Epizootic stomatitis MTHICD9_2006:078.4 A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Chlamydia psittaci, which is transmitted_by inhaling aerosolized dried droppings or transmitted_by contact with infected birds. The infection has_symptom fever, has_symptom headache, has_symptom rash, has_symptom chills, and has_symptom pneumonia. ICD10CM:A70 ICD9CM:073 ICD9CM:073.9 MESH:D009956 NCI:C34873 SNOMEDCT_US_2016_03_01:154367007 SNOMEDCT_US_2016_03_01:154369005 SNOMEDCT_US_2016_03_01:186653003 SNOMEDCT_US_2016_03_01:186657002 SNOMEDCT_US_2016_03_01:266200005 SNOMEDCT_US_2016_03_01:75116005 UMLS_CUI:C0029291 psittacosis disease_ontology DOID:11262 ornithosis A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Chlamydia psittaci, which is transmitted_by inhaling aerosolized dried droppings or transmitted_by contact with infected birds. The infection has_symptom fever, has_symptom headache, has_symptom rash, has_symptom chills, and has_symptom pneumonia. url:http://en.wikipedia.org/wiki/Psittacosis url:http://www.nyc.gov/html/doh/html/cd/cdpsit.shtml A commensal bacterial infectious disease that is caused by Chlamydia trachomatis. Chlamydia trachomatis infectious disease Chlamydial Infection chlamydial disease disease_ontology DOID:11263 chlamydia A commensal bacterial infectious disease that is caused by Chlamydia trachomatis. url:http://en.wikipedia.org/wiki/Chlamydia_infection Chlamydial Infection NCI2004_11_17:C34463 chlamydial disease CSP2005:0638-2797 disease_ontology DOID:11264 Chlamydophila infectious disease true A commensal bacterial infectious disease that results_in infection located_in eye, has_material_basis_in Chlamydia trachomatis (A, B, Ba and C serovars), which is transmitted_by contact with eye discharge from the infected person and transmitted_by congenital method. The infection causes eyelid to turn inward which makes eyelashes to scratch the cornea. DOID:13013 DOID:13264 ICD10CM:A71 ICD10CM:A71.0 ICD10CM:A71.1 ICD10CM:A71.9 ICD9CM:076 ICD9CM:076.0 ICD9CM:076.1 ICD9CM:076.9 MESH:D014141 SNOMEDCT_US_2016_03_01:154367007 SNOMEDCT_US_2016_03_01:186671005 SNOMEDCT_US_2016_03_01:186672003 SNOMEDCT_US_2016_03_01:187379009 SNOMEDCT_US_2016_03_01:2576002 SNOMEDCT_US_2016_03_01:266200005 SNOMEDCT_US_2016_03_01:29976007 SNOMEDCT_US_2016_03_01:52812002 UMLS_CUI:C0040592 UMLS_CUI:C0153107 UMLS_CUI:C0153108 active stage trachoma trachoma dubium disease_ontology DOID:11265 trachoma A commensal bacterial infectious disease that results_in infection located_in eye, has_material_basis_in Chlamydia trachomatis (A, B, Ba and C serovars), which is transmitted_by contact with eye discharge from the infected person and transmitted_by congenital method. The infection causes eyelid to turn inward which makes eyelashes to scratch the cornea. url:http://en.wikipedia.org/wiki/Trachoma url:http://www.cdc.gov/ncidod/dbmd/diseaseinfo/trachoma_t.htm url:http://www.who.int/blindness/causes/priority/en/index2.html A viral infectious disease that is a hemorrhagic fever, located_in kidney, has_material_basis_in Hantaan virus, has_material_basis_in Dobrava-Belgrade virus, has_material_basis_in Seoul virus, or has_material_basis_in Puumala virus, which are carried and transmitted_by rodents. The infection has_symptom headache, has_symptom fever, has_symptom muscle pains, has_symptom facial flush, has_symptom petechiae, has_symptom hemorrhagic features, has_symptom proteinuria, and has_symptom renal failure. ICD10CM:A98.5 ICD9CM:078.6 MESH:D006480 NCI:C84753 SNOMEDCT_US_2016_03_01:102455002 SNOMEDCT_US_2016_03_01:186701001 SNOMEDCT_US_2016_03_01:364756009 SNOMEDCT_US_2016_03_01:70826003 UMLS_CUI:C0019101 HFRS Hemorrhagic fever, Russian Hemorrhagic nephrosonephritis Puumala virus nephropathy (disorder) disease_ontology DOID:11266 hemorrhagic fever with renal syndrome A viral infectious disease that is a hemorrhagic fever, located_in kidney, has_material_basis_in Hantaan virus, has_material_basis_in Dobrava-Belgrade virus, has_material_basis_in Seoul virus, or has_material_basis_in Puumala virus, which are carried and transmitted_by rodents. The infection has_symptom headache, has_symptom fever, has_symptom muscle pains, has_symptom facial flush, has_symptom petechiae, has_symptom hemorrhagic features, has_symptom proteinuria, and has_symptom renal failure. url:http://emedicine.medscape.com/article/982142-overview url:http://whqlibdoc.who.int/bulletin/1983/Vol61-No2/bulletin_1983_61%282%29_269-275.pdf url:http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/hfrs.htm Hemorrhagic fever, Russian MTHICD9_2006:078.6 Hemorrhagic nephrosonephritis ICD9CM_2006:078.6 Puumala virus nephropathy (disorder) SNOMEDCT_2005_07_31:364756009 ICD10CM:H18.44 ICD9CM:371.45 MESH:C536156 SNOMEDCT_US_2016_03_01:193827004 SNOMEDCT_US_2016_03_01:85149007 UMLS_CUI:C0152455 disease_ontology DOID:11267 keratomalacia vitamin A deficiency with keratomalacia (disorder) disease_ontology DOID:11268 vitamin A deficiency with keratomalacia true vitamin A deficiency with keratomalacia (disorder) SNOMEDCT_2005_07_31:42639000 ICD10CM:K04.5 ICD9CM:522.6 SNOMEDCT_US_2016_03_01:196343008 SNOMEDCT_US_2016_03_01:196345001 SNOMEDCT_US_2016_03_01:87782002 UMLS_CUI:C0392492 chronic apical periodontitis (disorder) chronic apical periodontitis NOS (disorder) disease_ontology DOID:11269 chronic apical periodontitis chronic apical periodontitis (disorder) SNOMEDCT_2005_07_31:87782002 chronic apical periodontitis NOS (disorder) SNOMEDCT_2005_07_31:196345001 DOID:11270 DOID:14011 DOID:14012 hypertension secondary to renal disease, antepartum hypertension secondary to renal disease, postpartum hypertension secondary to renal disease, with delivery disease_ontology DOID:11271 hypertension secondary to renal disease, complicating pregnancy, childbirth and the puerperium true Syphilis of muscle (disorder) disease_ontology DOID:11275 muscle syphilis true Syphilis of muscle (disorder) SNOMEDCT_2005_07_31:88943008 ICD10CM:E05.2 ICD9CM:242.3 NCI:C35171 SNOMEDCT_US_2016_03_01:190250001 SNOMEDCT_US_2016_03_01:190254005 SNOMEDCT_US_2016_03_01:57777000 UMLS_CUI:C0342127 Plummer disease Toxic nodular Goiter Toxic nodular goiter (disorder) Toxic nodular goiter NOS (disorder) Toxic nodular goiter unspecified (disorder) disease_ontology DOID:11277 Plummer's disease Toxic nodular Goiter NCI2004_11_17:C35171 Toxic nodular goiter (disorder) SNOMEDCT_2005_07_31:57777000 Toxic nodular goiter NOS (disorder) SNOMEDCT_2005_07_31:190254005 Toxic nodular goiter unspecified (disorder) SNOMEDCT_2005_07_31:190250001 ICD10CM:H31.02 ICD9CM:363.31 SNOMEDCT_US_2016_03_01:1135000 UMLS_CUI:C0152131 Solar retinitis disease_ontology DOID:11282 solar retinopathy Solar retinitis SNOMEDCT_2005_07_31:1135000 ICD9CM:363.34 UMLS_CUI:C0154888 disease_ontology DOID:11283 peripheral scars of retina disease_ontology DOID:11284 disseminated scars of retina true A tick infestation that is characterized by an acute, ascending, flaccid motor paralysis, which is caused by the introduction of a neurotoxin into humans during attachment and feeding by the females of several tick species such as Dermacentor andersoni, Dermacentor variabilis, Amblyomma americanum, Amblyomma maculatum, Ixodes scapularis, Ixodes pacificus, Ixodes holocyclus, Rhipicephalus sanguineus and Otobius megnini. The symptoms include local inflammation, edema and hemorrhage. MESH:D013985 SNOMEDCT_US_2016_03_01:74225001 UMLS_CUI:C0040197 disease_ontology DOID:11285 tick paralysis A tick infestation that is characterized by an acute, ascending, flaccid motor paralysis, which is caused by the introduction of a neurotoxin into humans during attachment and feeding by the females of several tick species such as Dermacentor andersoni, Dermacentor variabilis, Amblyomma americanum, Amblyomma maculatum, Ixodes scapularis, Ixodes pacificus, Ixodes holocyclus, Rhipicephalus sanguineus and Otobius megnini. The symptoms include local inflammation, edema and hemorrhage. url:http://www.cdc.gov/mmwr/preview/mmwrhtml/00040975.htm url:http://www.dpd.cdc.gov/dpdx/HTML/Ticks.htm url:http://www.journals.uchicago.edu/doi/pdf/10.1086/313502 url:http://www.ncbi.nlm.nih.gov/pubmed/10428629 Toxic myoneural disorder Toxic myoneural junction disorder disease_ontology DOID:11286 neuromuscular junction toxic disorder true Toxic myoneural disorder ICD9CM_2006:358.2 Toxic myoneural junction disorder SNOMEDCT_2005_07_31:17940001 disease_ontology DOID:11287 conditions involving the integument and temperature regulation of fetus and newborn true An extrinsic allergic alveolitis caused by inhalation of antigens from thermophilic actinomycetes species growing in air conditioners and humidifiers. Fungi like Aureobasidium sp and Candida albicans that survive in the contaminated water in humidifiers and air conditioners are also known to cause the disease. ICD10CM:J67.7 ICD9CM:495.7 SNOMEDCT_US_2016_03_01:195990006 SNOMEDCT_US_2016_03_01:48347002 UMLS_CUI:C0155891 Air-conditioner and humidifier lung Humidifier lung disease_ontology DOID:11289 ventilation pneumonitis An extrinsic allergic alveolitis caused by inhalation of antigens from thermophilic actinomycetes species growing in air conditioners and humidifiers. Fungi like Aureobasidium sp and Candida albicans that survive in the contaminated water in humidifiers and air conditioners are also known to cause the disease. url:http://www.merck.com/media/mmpe/pdf/Table_055-5.pdf Air-conditioner and humidifier lung SNOMEDCT_2005_07_31:195990006 Humidifier lung SNOMEDCT_2005_07_31:48347002 MESH:D010899 NCI:C26853 SNOMEDCT_US_2016_03_01:237701005 UMLS_CUI:C0032001 Pituitary apoplexy (disorder) disease_ontology DOID:1129 pituitary apoplexy Pituitary apoplexy (disorder) SNOMEDCT_2005_07_31:237701005 An anomalous configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system. CSP:0571-2717 HP:0100026 ICD10CM:I77.0 NCI:C2882 SNOMEDCT_US_2016_03_01:11071001 SNOMEDCT_US_2016_03_01:14156004 SNOMEDCT_US_2016_03_01:204480002 SNOMEDCT_US_2016_03_01:233982006 SNOMEDCT_US_2016_03_01:403966009 UMLS_CUI:C0334533 Arteriovenous hemangioma (disorder) Cirsoid aneurysm Racemose Angioma Racemose aneurysm (morphologic abnormality) Racemose hemangioma (morphologic abnormality) disease_ontology DOID:11294 arteriovenous malformation An anomalous configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system. HP:0100026 url:http://en.wikipedia.org/wiki/Arteriovenous_malformation Arteriovenous hemangioma (disorder) SNOMEDCT_2005_07_31:403966009 Cirsoid aneurysm SNOMEDCT_2005_07_31:204480002 Racemose Angioma NCI2004_11_17:C4297 Racemose aneurysm (morphologic abnormality) SNOMEDCT_2005_07_31:14156004 Racemose hemangioma (morphologic abnormality) SNOMEDCT_2005_07_31:11071001 ICD9CM:362.14 SNOMEDCT_US_2016_03_01:193363005 SNOMEDCT_US_2016_03_01:34037000 UMLS_CUI:C0154834 disease_ontology DOID:11295 retinal microaneurysm ICD10CM:I65.0 ICD9CM:433.2 UMLS_CUI:C0155724 Occlusion and stenosis of vertebral artery disease_ontology DOID:11299 vertebral artery occlusion disease_ontology DOID:113 pneumopericardium true NCI:C27117 SNOMEDCT_US_2016_03_01:95830009 UMLS_CUI:C0342405 Pituitary infarction Pituitary infarction (disorder) disease_ontology DOID:1130 pituitary infarct Pituitary infarction NCI2004_11_17:C27117 Pituitary infarction (disorder) SNOMEDCT_2005_07_31:95830009 A schistosomiasis that is a short-term, cutaneous inflammatory response associated with penetration of the skin by cercariae of bird schistosome, Austrobilharzia variglandis. The disease has_symptom skin reddening, has_symptom skin itching, in the water or immediately after emerging and has_symptom itchy, raised papules, occur within hours of infection. ICD10CM:B65.3 ICD9CM:120.3 NCI:C34457 SNOMEDCT_US_2016_03_01:187115002 SNOMEDCT_US_2016_03_01:238534006 SNOMEDCT_US_2016_03_01:86711009 UMLS_CUI:C0546996 Cutaneous schistosomiasis Sea bather's eruption (disorder) disease_ontology DOID:11302 cercarial dermatitis A schistosomiasis that is a short-term, cutaneous inflammatory response associated with penetration of the skin by cercariae of bird schistosome, Austrobilharzia variglandis. The disease has_symptom skin reddening, has_symptom skin itching, in the water or immediately after emerging and has_symptom itchy, raised papules, occur within hours of infection. url:http://www.cdc.gov/parasites/swimmersitch/ url:http://www.dpd.cdc.gov/dpdx/HTML/CercarialDermatitis.htm Cutaneous schistosomiasis ICD9CM_2006:120.3 Sea bather's eruption (disorder) SNOMEDCT_2005_07_31:238534006 disease_ontology DOID:11307 subchronic state latent schizophrenia with acute exacerbation true Latent schizophrenia in remission (disorder) Latent schizophrenia, in remission disease_ontology DOID:11308 latent schizophrenia in remission true Latent schizophrenia in remission (disorder) SNOMEDCT_2005_07_31:191565008 Latent schizophrenia, in remission ICD9CM_2006:295.55 Latent chronic Schizophrenia Latent schizophrenia, chronic state chronic latent schizophrenia (disorder) disease_ontology DOID:11309 chronic latent schizophrenia true Latent chronic Schizophrenia NCI2004_11_17:C35182 Latent schizophrenia, chronic state ICD9CM_2006:295.52 chronic latent schizophrenia (disorder) SNOMEDCT_2005_07_31:191562006 ICD9CM:426.12 NCI:C62018 SNOMEDCT_US_2016_03_01:28189009 UMLS_CUI:C0155700 Mobitz (type) II atrioventricular block Mobitz II atrioventricular block Mobitz type II atrioventricular block (disorder) disease_ontology DOID:11312 Mobitz type II atrioventricular block Mobitz (type) II atrioventricular block ICD9CM_2006:426.12 Mobitz II atrioventricular block MTHICD9_2006:426.12 Mobitz type II atrioventricular block (disorder) SNOMEDCT_2005_07_31:28189009 An African histoplasmosis that results_in inflammation located_in retina, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and results_in_formation_of lesions. Histoplasma duboisii with retinitis (disorder) disease_ontology DOID:11314 Histoplasma duboisii retinitis true An African histoplasmosis that results_in inflammation located_in retina, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and results_in_formation_of lesions. url:http://www.ncbi.nlm.nih.gov/pubmed/1945308 Histoplasma duboisii with retinitis (disorder) SNOMEDCT_2005_07_31:187049007 A histoplasmosis that results_in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and results_in_formation_of nodules, results_in_formation_of ulcers and results_in_formation_of osteolytic bone lesions. ICD9CM:115.10 UMLS_CUI:C0153270 disease_ontology DOID:11315 African histoplasmosis A histoplasmosis that results_in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and results_in_formation_of nodules, results_in_formation_of ulcers and results_in_formation_of osteolytic bone lesions. url:http://www.cdc.gov/eid/content/13/11/1647.htm ICD9CM:115.92 SNOMEDCT_US_2016_03_01:187058000 UMLS_CUI:C0153278 Histoplasmosis with retinitis disease_ontology DOID:11316 histoplasmosis retinitis Histoplasmosis with retinitis SNOMEDCT_2005_07_31:187058000 A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Kyasanur forest disease virus, which is transmitted_by Haemaphysalis spinigera tick bite. The infection has_symptom fever, has_symptom headache, has_symptom stiffness of the neck, has_symptom severe muscle pain, has_symptom cough, has_symptom dehydration, and has_symptom bleeding problems. ICD10CM:A98.2 ICD9CM:065.2 MESH:D007733 SNOMEDCT_US_2016_03_01:23097003 UMLS_CUI:C0022810 disease_ontology DOID:11320 Kyasanur forest disease A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Kyasanur forest disease virus, which is transmitted_by Haemaphysalis spinigera tick bite. The infection has_symptom fever, has_symptom headache, has_symptom stiffness of the neck, has_symptom severe muscle pain, has_symptom cough, has_symptom dehydration, and has_symptom bleeding problems. url:http://www.cdc.gov/ncidod/dvrd/Spb/mnpages/dispages/kyasanur.htm disease_ontology DOID:11327 acute schizophrenic episode subchronic state with acute exacerbation true A psychotic disorder that involves schizophrenia symptoms over time period of one month. ICD10CM:F20.81 ICD9CM:295.4 MESH:D011618 NCI:C94376 SNOMEDCT_US_2016_03_01:88975006 UMLS_CUI:C0036358 disease_ontology DOID:11328 schizophreniform disorder A psychotic disorder that involves schizophrenia symptoms over time period of one month. url:http://en.wikipedia.org/wiki/Schizophreniform_disorder A connective tissue disease that results in increasing fibrous constriction and ultimately in spontaneous amputation of the toes and especially the little toes. A painful constriction of the base of the fifth toe frequently followed by bilateral spontaneous amputation (autoamputation) a few years later. ICD10CM:L94.6 ICD9CM:136.0 MESH:D000387 NCI:C84544 OMIM:103400 SNOMEDCT_US_2016_03_01:38528001 SNOMEDCT_US_2016_03_01:51404004 UMLS_CUI:C0001860 Ainhum Dactylolysis spontanea disease_ontology DOID:11329 OMIM mapping confirmed by DO. [SN]. ainhum A connective tissue disease that results in increasing fibrous constriction and ultimately in spontaneous amputation of the toes and especially the little toes. A painful constriction of the base of the fifth toe frequently followed by bilateral spontaneous amputation (autoamputation) a few years later. url:http://en.wikipedia.org/wiki/Ainhum url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=ainhum Ainhum SNOMEDCT_2005_07_31:38528001 Dactylolysis spontanea MTHICD9_2006:136.0 ICD10CM:A46 ICD9CM:035 MESH:D004886 SNOMEDCT_US_2016_03_01:154305002 SNOMEDCT_US_2016_03_01:266005008 SNOMEDCT_US_2016_03_01:44653001 UMLS_CUI:C0014733 disease_ontology DOID:11330 erysipelas A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs. ICD10CM:D80-D89 ICD10CM:D86 ICD10CM:D86.9 ICD9CM:135 MESH:D012507 NCI:C34995 OMIM:181000 OMIM:612387 OMIM:612388 ORDO:797 SNOMEDCT_US_2016_03_01:154425004 SNOMEDCT_US_2016_03_01:31541009 UMLS_CUI:C0036202 Boeck sarcoid lymphogranulomatosis disease_ontology DOID:11335 sarcoidosis A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs. url:http://en.wikipedia.org/wiki/Sarcoidosis url:http://ghr.nlm.nih.gov/glossary=sarcoidosis url:http://www.mayoclinic.org/diseases-conditions/sarcoidosis/basics/definition/con-20022569?_ga=1.188430891.2017809229.1415219956 lymphogranulomatosis CSP2005:2024-3715 A primary bacterial infectious disease that involves the inflammation of mucosa lining the nasal cavity, pharynx, larynx, trachea and bronchi that is characterized by the formation of granulomas, dense induration of the tissues and nodular deformity caused by Klebsiella rhinoscleromatis. ICD9CM:040.1 MESH:D012226 SNOMEDCT_US_2016_03_01:72409005 UMLS_CUI:C0035468 disease_ontology DOID:11336 rhinoscleroma A primary bacterial infectious disease that involves the inflammation of mucosa lining the nasal cavity, pharynx, larynx, trachea and bronchi that is characterized by the formation of granulomas, dense induration of the tissues and nodular deformity caused by Klebsiella rhinoscleromatis. url:http://en.wikipedia.org/wiki/Rhinoscleroma url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=rhinoscleroma A commensal bacterial infectious disease that is characterized by systemic sepsis, ulcerative or necrotic lesions and multisystem abscesses caused by Fusobacterium necrophorum. The disease often first presents as a severe tonsillitis or pharyngitis with high-grade fever and chills together with leukocytosis, cervical pain and neck swelling. ICD9CM:040.3 MESH:D005674 SNOMEDCT_US_2016_03_01:52542005 UMLS_CUI:C0027537 Lemierre syndrome human necrobacillosis postanginal sepsis disease_ontology acute sore throat DOID:11337 Lemierre's syndrome A commensal bacterial infectious disease that is characterized by systemic sepsis, ulcerative or necrotic lesions and multisystem abscesses caused by Fusobacterium necrophorum. The disease often first presents as a severe tonsillitis or pharyngitis with high-grade fever and chills together with leukocytosis, cervical pain and neck swelling. url:http://en.wikipedia.org/wiki/Fusobacterium_necrophorum url:http://www.bsac.org.uk/pyxis/head_and_Neck_Infections/Necrobacillosis/NecrobacillosisF.htm url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=necrobacillosis A primary bacterial infectious disease that results_in prolonged contraction of skeletal muscle fibers, has_material_basis_in Clostridium tetani, which produces tetanospasmin, a neurotoxin, which is carried to the brain and spinal cord, where it binds irreversibly to receptors inhibiting neurotransmission. Damaged upper motor neurons cannot control reflex responses to afferent sensory stimuli. ICD10CM:A35 ICD9CM:037 MESH:D013742 NCI:C85185 SNOMEDCT_US_2016_03_01:154312006 SNOMEDCT_US_2016_03_01:276202003 SNOMEDCT_US_2016_03_01:76902006 UMLS_CUI:C0039614 Infection due to Clostridium tetani clostridial tetanus disease_ontology DOID:11338 tetanus A primary bacterial infectious disease that results_in prolonged contraction of skeletal muscle fibers, has_material_basis_in Clostridium tetani, which produces tetanospasmin, a neurotoxin, which is carried to the brain and spinal cord, where it binds irreversibly to receptors inhibiting neurotransmission. Damaged upper motor neurons cannot control reflex responses to afferent sensory stimuli. url:http://emedicine.medscape.com/article/786414-overview#a0104 url:http://en.wikipedia.org/wiki/Tetanus Infection due to Clostridium tetani SNOMEDCT_2005_07_31:276202003 clostridial tetanus CSP2005:0368-2622 An opportunistic mycosis that is located_in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow, and lymph nodes, has_material_basis_in Pneumocystis jirovecii that effects interstitial and alveolar tissues and has_symptom nonproductive cough, has_symptom shortness of breath, and has_symptom fever. ICD10CM:B59 ICD9CM:136.3 MESH:D011020 NCI:C3334 SNOMEDCT_US_2016_03_01:155557008 SNOMEDCT_US_2016_03_01:415125002 SNOMEDCT_US_2016_03_01:57541005 SNOMEDCT_US_2016_03_01:88860002 UMLS_CUI:C1535939 Pneumocystis carinii pneumonia Pneumocystis jirovecii pneumonia Pneumocystis pneumonia Pneumocystosis Pneumocystosis pneumonia pulmonary pneumocystosis (disorder) disease_ontology DOID:11339 pneumocystosis An opportunistic mycosis that is located_in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow, and lymph nodes, has_material_basis_in Pneumocystis jirovecii that effects interstitial and alveolar tissues and has_symptom nonproductive cough, has_symptom shortness of breath, and has_symptom fever. url:http://www.nlm.nih.gov/medlineplus/ency/article/000671.htm url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=pneumocystis%20carinii%20pneumonia Pneumocystis carinii pneumonia SNOMEDCT_2005_07_31:155557008 Pneumocystis pneumonia CSP2005:2596-6076 Pneumocystosis ICD9CM_2006:136.3 Pneumocystosis pneumonia SNOMEDCT_2005_07_31:415125002 pulmonary pneumocystosis (disorder) SNOMEDCT_2005_07_31:57541005 DOID:1133 DOID:13280 DOID:13901 DOID:2405 ICD10CM:K06.0 ICD9CM:523.2 ICD9CM:523.20 ICD9CM:523.21 ICD9CM:523.22 ICD9CM:523.23 ICD9CM:523.24 MESH:D005889 NCI:C82068 SNOMEDCT_US_2016_03_01:155645006 SNOMEDCT_US_2016_03_01:196360003 SNOMEDCT_US_2016_03_01:4356008 SNOMEDCT_US_2016_03_01:59898000 UMLS_CUI:C0017572 UMLS_CUI:C0266916 UMLS_CUI:C1456171 UMLS_CUI:C1456172 UMLS_CUI:C1456173 Gingival recession Gingival recession (disorder) Gingival recession NOS (disorder) Gingival recession, localized Gingival recession, unspecified localized gingival recession localized gingival recession (disorder) minimal gingival recession moderate gingival recession severe gingival recession disease_ontology DOID:1134 gingival recession Gingival recession ICD9CM_2006:523.2 Gingival recession SNOMEDCT_2005_07_31:155645006 Gingival recession (disorder) SNOMEDCT_2005_07_31:4356008 Gingival recession NOS (disorder) SNOMEDCT_2005_07_31:196360003 Gingival recession, localized ICD9CM_2006:523.24 Gingival recession, unspecified ICD9CM_2006:523.20 localized gingival recession (disorder) SNOMEDCT_2005_07_31:59898000 An opportunistic mycosis that has_material_basis_in Pneumocystis jirovecii, located_in lymph node, located_in spleen, located_in liver and located_in bone marrow, results_in_formation_of lesions. Infection by Pneumocystis carinii (disorder) disease_ontology DOID:11340 Pneumocystis infectious disease true An opportunistic mycosis that has_material_basis_in Pneumocystis jirovecii, located_in lymph node, located_in spleen, located_in liver and located_in bone marrow, results_in_formation_of lesions. url:http://www.dpd.cdc.gov/dpdx/html/pneumocystis.htm Infection by Pneumocystis carinii (disorder) SNOMEDCT_2005_07_31:111918002 A lung disease that is a mycosis caused by fungal growth in the lungs. disease_ontology DOID:11341 fungal lung infectious disease true A lung disease that is a mycosis caused by fungal growth in the lungs. url:http://en.wikipedia.org/wiki/Fungal_infection ICD10CM:H18.41 MESH:D001112 OMIM:107800 SNOMEDCT_US_2016_03_01:111522004 SNOMEDCT_US_2016_03_01:155159000 SNOMEDCT_US_2016_03_01:231924000 UMLS_CUI:C0003742 Arcus of cornea corneal arcus disease_ontology DOID:11342 OMIM mapping confirmed by DO. [SN]. arcus senilis Arcus of cornea SNOMEDCT_2005_07_31:231924000 ICD10CM:H15 ICD10CM:H15.9 MESH:D015422 NCI:C79717 SNOMEDCT_US_2016_03_01:33064008 UMLS_CUI:C0036412 disease_ontology DOID:11343 scleral disease disease_ontology DOID:11346 congenital osteodystrophy true Inactive Meniere's disease Mnire's disease in remission disease_ontology DOID:11347 Meniere's disease in remission true Inactive Meniere's disease ICD9CM_2006:386.04 Mnire's disease in remission SNOMEDCT_2005_07_31:194351009 disease_ontology DOID:11349 epilepsia partialis continua true Grand mal status Grand mal status (disorder) Grand mal status, epileptic disease_ontology DOID:11350 grand mal status epilepticus true Grand mal status SNOMEDCT_2005_07_31:192998006 Grand mal status (disorder) SNOMEDCT_2005_07_31:13973009 Grand mal status, epileptic ICD9CM_2006:345.3 disease_ontology DOID:11352 epilepsia partialis continua with intractable epilepsy true ICD10CM:N32.3 ICD9CM:596.3 MESH:C562406 OMIM:109820 SNOMEDCT_US_2016_03_01:155888001 SNOMEDCT_US_2016_03_01:156977001 SNOMEDCT_US_2016_03_01:197866008 SNOMEDCT_US_2016_03_01:197869001 SNOMEDCT_US_2016_03_01:21853005 SNOMEDCT_US_2016_03_01:252004007 SNOMEDCT_US_2016_03_01:268335001 UMLS_CUI:C0156273 Diverticulum - bladder Diverticulum of bladder disease_ontology DOID:11353 OMIM mapping confirmed by DO. [SN]. bladder diverticulum Diverticulum - bladder SNOMEDCT_2005_07_31:156977001 Diverticulum of bladder SNOMEDCT_2005_07_31:155888001 ICD10CM:N21.0 ICD9CM:594.0 SNOMEDCT_US_2016_03_01:18109005 UMLS_CUI:C0156265 calculus in diverticulum of bladder disease_ontology DOID:11354 stone in bladder diverticulum calculus in diverticulum of bladder ICD9CM_2006:594.0 ICD10CM:N21.0 MESH:D001744 SNOMEDCT_US_2016_03_01:155879005 SNOMEDCT_US_2016_03_01:197830007 SNOMEDCT_US_2016_03_01:70650003 UMLS_CUI:C0005683 disease_ontology DOID:11355 bladder calculus A viral infectious disease that results_in infection, has_material_basis_in Sandfly fever Naples virus, or has_material_basis_in Sandfly fever sicilian virus, which are transmitted_by Phlebotomus papatasi sandfly. The infection has_symptom fever, has_symptom severe frontal headaches, has_symptom muscle ache, has_symptom joint aches, has_symptom flushing of the face, and has_symptom tachycardia. ICD10CM:A93.1 ICD9CM:066.0 MESH:D010217 SNOMEDCT_US_2016_03_01:186605002 SNOMEDCT_US_2016_03_01:186606001 SNOMEDCT_US_2016_03_01:240517002 SNOMEDCT_US_2016_03_01:240518007 SNOMEDCT_US_2016_03_01:33670001 SNOMEDCT_US_2016_03_01:407476002 UMLS_CUI:C0030372 Sandfly fever Sandfly-borne arboviral fever Sandfly-borne bunyavirus fever (disorder) Sandfly-borne phleboviral disease pappataci fever disease_ontology DOID:11360 Phlebotomus fever A viral infectious disease that results_in infection, has_material_basis_in Sandfly fever Naples virus, or has_material_basis_in Sandfly fever sicilian virus, which are transmitted_by Phlebotomus papatasi sandfly. The infection has_symptom fever, has_symptom severe frontal headaches, has_symptom muscle ache, has_symptom joint aches, has_symptom flushing of the face, and has_symptom tachycardia. url:http://en.wikipedia.org/wiki/Pappataci_fever url:http://www.bjbms.org/archives/2009-1/current%20issue6.pdf Sandfly fever SNOMEDCT_2005_07_31:186605002 Sandfly-borne arboviral fever SNOMEDCT_2005_07_31:240517002 Sandfly-borne bunyavirus fever (disorder) SNOMEDCT_2005_07_31:240518007 Sandfly-borne phleboviral disease SNOMEDCT_2005_07_31:407476002 Tick-borne fever (disorder) Tick-borne fever NOS (disorder) pasture fever tick-borne fever disease_ontology DOID:11361 tickborne fever true Tick-borne fever (disorder) SNOMEDCT_2005_07_31:25495004 Tick-borne fever NOS (disorder) SNOMEDCT_2005_07_31:186608000 ICD10CM:H27.11 ICD9CM:379.32 MESH:D007906 NCI:C34772 SNOMEDCT_US_2016_03_01:155203002 SNOMEDCT_US_2016_03_01:267748002 SNOMEDCT_US_2016_03_01:65814009 UMLS_CUI:C0023316 Subluxation of lens disease_ontology DOID:11364 lens subluxation Subluxation of lens ICD9CM_2006:379.32 ICD10CM:Q12.3 ICD9CM:743.35 NCI:C35172 OMIM:610256 SNOMEDCT_US_2016_03_01:35387008 UMLS_CUI:C0152422 APHAKIA, CONGENITAL PRIMARY Congenital absence of lens disease_ontology DOID:11367 OMIM mapping confirmed by DO. [SN]. congenital aphakia ICD10CM:K59.1 ICD9CM:564.5 SNOMEDCT_US_2016_03_01:47812002 UMLS_CUI:C0156173 Functional diarrhea (disorder) disease_ontology DOID:11371 functional diarrhea Functional diarrhea (disorder) SNOMEDCT_2005_07_31:47812002 A colonic disease that is characterized by an abnormal dilation of the colon. DOID:1771 ICD10CM:K59.3 MESH:D008531 NCI:C34810 SNOMEDCT_US_2016_03_01:197138002 SNOMEDCT_US_2016_03_01:197144003 SNOMEDCT_US_2016_03_01:33995003 UMLS_CUI:C0025160 Dilatation of colon disease_ontology DOID:11372 megacolon A colonic disease that is characterized by an abnormal dilation of the colon. url:http://en.wikipedia.org/wiki/Megacolon Dilatation of colon MTHICD9_2006:564.7 SNOMEDCT_2005_07_31:197138002 SNOMEDCT_2005_07_31:33995003 ICD10CM:K59.4 ICD9CM:564.6 SNOMEDCT_US_2016_03_01:17440005 SNOMEDCT_US_2016_03_01:197136003 SNOMEDCT_US_2016_03_01:197137007 UMLS_CUI:C0152167 disease_ontology DOID:11374 anal spasm DOID:11376 calculus of gallbladder and bile duct with acute cholecystitis, with obstruction disease_ontology DOID:11377 calculus of gallbladder and bile duct with acute cholecystitis true A parasitic helminthiasis infectious disease that involves parasitic infection due to migrating immature worms of Gnathostoma spinigerum or Gnathostoma hispidum, which occurs by eating undercooked fish or poultry containing third-stage larvae, or by drinking water containing infective second-stage larvae in Cyclops. Migration in the subcutaneous tissues causes intermittent, migratory, painful, pruritic swellings (cutaneous larva migrans). Migration to other tissues (visceral larva migrans), result in cough, hematuria, and ocular involvement, with the most serious manifestations eosinophilic meningitis with myeloencephalitis. ICD10CM:B83.1 ICD9CM:128.1 MESH:D058429 SNOMEDCT_US_2016_03_01:44086001 UMLS_CUI:C0018013 Gnathostomiasis Infectious Disease by Gnathostoma (disorder) disease_ontology DOID:11379 gnathomiasis A parasitic helminthiasis infectious disease that involves parasitic infection due to migrating immature worms of Gnathostoma spinigerum or Gnathostoma hispidum, which occurs by eating undercooked fish or poultry containing third-stage larvae, or by drinking water containing infective second-stage larvae in Cyclops. Migration in the subcutaneous tissues causes intermittent, migratory, painful, pruritic swellings (cutaneous larva migrans). Migration to other tissues (visceral larva migrans), result in cough, hematuria, and ocular involvement, with the most serious manifestations eosinophilic meningitis with myeloencephalitis. url:http://www.dpd.cdc.gov/dpdx/HTML/Gnathostomiasis.htm Gnathostomiasis ICD9CM_2006:128.1 Infectious Disease by Gnathostoma (disorder) SNOMEDCT_2005_07_31:44086001 MESH:D008579 NCI:C6935 SNOMEDCT_US_2016_03_01:189167009 UMLS_CUI:C0347515 Spinal Cord meningioma Spinal meningioma (disorder) disease_ontology DOID:1138 spinal meningioma Spinal Cord meningioma NCI2004_11_17:C6935 Spinal meningioma (disorder) SNOMEDCT_2005_07_31:189167009 ICD10CM:H16.4 ICD10CM:H16.40 ICD9CM:370.6 ICD9CM:370.60 MESH:D016510 SNOMEDCT_US_2016_03_01:19161004 SNOMEDCT_US_2016_03_01:193789007 SNOMEDCT_US_2016_03_01:193791004 UMLS_CUI:C0085109 disease_ontology DOID:11382 corneal neovascularization ICD10CM:Q53.9 ICD9CM:752.51 MESH:D003456 NCI:C12326 OMIM:219050 SNOMEDCT_US_2016_03_01:156967003 SNOMEDCT_US_2016_03_01:204878001 SNOMEDCT_US_2016_03_01:204879009 SNOMEDCT_US_2016_03_01:204882004 SNOMEDCT_US_2016_03_01:268226005 SNOMEDCT_US_2016_03_01:367721002 SNOMEDCT_US_2016_03_01:37501009 UMLS_CUI:C0010417 Cryptorchism Undescended testicle Undescended testis undescended testicles disease_ontology DOID:11383 OMIM mapping confirmed by DO. [SN]. cryptorchidism Cryptorchism MTHICD9_2006:752.51 Undescended testicle SNOMEDCT_2005_07_31:156967003 Undescended testis ICD9CM_2006:752.51 undescended testicles NCI2004_11_17:C12326 A language disorder that involves difficulties with verbal and written expression characterized by an ability to use expressive spoken language that is markedly below the appropriate level for the mental age, but with a language comprehension that is within normal limits. ICD10CM:F80.1 ICD9CM:315.31 NCI:C92562 SNOMEDCT_US_2016_03_01:192565006 SNOMEDCT_US_2016_03_01:229733002 SNOMEDCT_US_2016_03_01:268734000 SNOMEDCT_US_2016_03_01:80360005 UMLS_CUI:C0236826 Developmental expressive language disorder disease_ontology DOID:11385 expressive language disorder A language disorder that involves difficulties with verbal and written expression characterized by an ability to use expressive spoken language that is markedly below the appropriate level for the mental age, but with a language comprehension that is within normal limits. url:http://en.wikipedia.org/wiki/Expressive_language_disorder Developmental expressive language disorder SNOMEDCT_2005_07_31:268734000 A central nervous system disease that is characterized by a collection of pus (infected material) between the outer covering of the brain and spinal cord and the bones of the skull or spine and is caused by infection in the area between the bones of the skull or spine, and the membranes covering the brain and spinal cord (meninges). MESH:D020802 SNOMEDCT_US_2016_03_01:192752004 SNOMEDCT_US_2016_03_01:310671007 SNOMEDCT_US_2016_03_01:61974008 UMLS_CUI:C0270629 abscess epidural disease_ontology DOID:11387 epidural abscess A central nervous system disease that is characterized by a collection of pus (infected material) between the outer covering of the brain and spinal cord and the bones of the skull or spine and is caused by infection in the area between the bones of the skull or spine, and the membranes covering the brain and spinal cord (meninges). url:http://www.nlm.nih.gov/medlineplus/ency/article/001416.htm abscess epidural SNOMEDCT_2005_07_31:192752004 MESH:D013354 SNOMEDCT_US_2016_03_01:37660004 UMLS_CUI:C0038539 Subdural abscess (disorder) disease_ontology DOID:11389 subdural empyema Subdural abscess (disorder) SNOMEDCT_2005_07_31:37660004 ICD9CM:437.4 SNOMEDCT_US_2016_03_01:28366008 UMLS_CUI:C0007773 Cerebral arteritis (disorder) disease_ontology DOID:11390 cerebral arteritis Cerebral arteritis (disorder) SNOMEDCT_2005_07_31:28366008 A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia. ICD10CM:J80 MESH:D012128 NCI:C3353 SNOMEDCT_US_2016_03_01:155627006 SNOMEDCT_US_2016_03_01:196150004 SNOMEDCT_US_2016_03_01:196154008 SNOMEDCT_US_2016_03_01:206281003 SNOMEDCT_US_2016_03_01:266411000 SNOMEDCT_US_2016_03_01:67782005 UMLS_CUI:C0035222 ARDS Non-cardiogenic pulmonary edema Shock lung adult RDS disease_ontology DOID:11394 PRISM. adult respiratory distress syndrome A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia. URL:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=adult+respiratory+distress+syndrome ARDS CSP2005:2596-8861 Non-cardiogenic pulmonary edema SNOMEDCT_2005_07_31:95437004 Shock lung MTHICD9_2006:518.5 adult RDS NCI2004_11_17:C3353 DOID:13472 ICD10CM:J81 ICD10CM:J81.1 MESH:D011654 NCI:C26868 SNOMEDCT_US_2016_03_01:19242006 SNOMEDCT_US_2016_03_01:196119001 SNOMEDCT_US_2016_03_01:266408001 UMLS_CUI:C0034063 disease_ontology DOID:11396 pulmonary edema A cardiovascular system disease that involves the heart. ICD10CM:I51.9 ICD9CM:429.9 MESH:D006331 NCI:C3079 SNOMEDCT_US_2016_03_01:155263000 SNOMEDCT_US_2016_03_01:194707003 SNOMEDCT_US_2016_03_01:195152001 SNOMEDCT_US_2016_03_01:266275004 SNOMEDCT_US_2016_03_01:266311004 SNOMEDCT_US_2016_03_01:56265001 UMLS_CUI:C0018799 disease_ontology DOID:114 heart disease A cardiovascular system disease that involves the heart. url:http://en.wikipedia.org/wiki/Heart_disease NCI:C5134 UMLS_CUI:C1334264 disease_ontology DOID:1140 spinal canal and spinal cord meningioma ICD10CM:N10-N16 ICD10CM:N12 ICD10CM:N16 ICD9CM:590.80 MESH:D011704 NCI:C34965 SNOMEDCT_US_2016_03_01:197779009 SNOMEDCT_US_2016_03_01:197784003 SNOMEDCT_US_2016_03_01:45816000 UMLS_CUI:C0034186 disease_ontology DOID:11400 pyelonephritis MESH:D011705 NCI:C123038 SNOMEDCT_US_2016_03_01:197777006 SNOMEDCT_US_2016_03_01:38898003 UMLS_CUI:C0034188 Xanthogranulomatous pyelonephritis Xanthogranulomatous pyelonephritis (disorder) disease_ontology DOID:11401 xanthogranulomatous pyelonephritis Xanthogranulomatous pyelonephritis SNOMEDCT_2005_07_31:197777006 Xanthogranulomatous pyelonephritis (disorder) SNOMEDCT_2005_07_31:38898003 Drug-induced depressive state (disorder) Drug-induced mood disorder disease_ontology DOID:11403 depressive state induced by drug true Drug-induced depressive state (disorder) SNOMEDCT_2005_07_31:191495003 Drug-induced mood disorder ICD9CM_2006:292.84 A diphtheria that involves a bluish white membrane formation on the larynx. It can be an extension of the nasopharyngeal diphtheria. This membrane can lead to airway obstruction, coma, and death. Symptoms include fever, hoarseness, and a barking cough. laryngeal Diphtheria laryngeal diphtheria laryngeal diphtheria (disorder) disease_ontology DOID:11404 diphtheritic laryngotracheitis true A diphtheria that involves a bluish white membrane formation on the larynx. It can be an extension of the nasopharyngeal diphtheria. This membrane can lead to airway obstruction, coma, and death. Symptoms include fever, hoarseness, and a barking cough. url:http://www.cdc.gov/Vaccines/vpd-vac/diphtheria/dat/downloads/protocol_032504.pdf url:http://www.cdc.gov/vaccines/pubs/pinkbook/downloads/dip.pdf laryngeal Diphtheria NCI2004_11_17:C34546 laryngeal diphtheria ICD9CM_2006:032.3 laryngeal diphtheria (disorder) SNOMEDCT_2005_07_31:50215002 A primary bacterial infectious disease that is characterized by sore throat, low fever, and an adherent membrane (a pseudomembrane) on the tonsils, pharynx, and/or nasal cavity. A milder form of diphtheria can be restricted to the skin. It is caused by Corynebacterium diphtheriae, an aerobic Gram-positive bacterium. Diphtheria toxin spreads through the bloodstream and can lead to potentially life-threatening complications that affect other organs of the body, such as the heart and kidneys. DOID:4132 MESH:D003354 MESH:D004165 SNOMEDCT_US_2016_03_01:397434007 UMLS_CUI:C0010153 corynebacterium infection disease_ontology DOID:11405 diphtheria A primary bacterial infectious disease that is characterized by sore throat, low fever, and an adherent membrane (a pseudomembrane) on the tonsils, pharynx, and/or nasal cavity. A milder form of diphtheria can be restricted to the skin. It is caused by Corynebacterium diphtheriae, an aerobic Gram-positive bacterium. Diphtheria toxin spreads through the bloodstream and can lead to potentially life-threatening complications that affect other organs of the body, such as the heart and kidneys. url:http://en.wikipedia.org/wiki/Diphtheria ICD10CM:H30.9 MESH:D002833 NCI:C35111 SNOMEDCT_US_2016_03_01:16553002 SNOMEDCT_US_2016_03_01:193449000 UMLS_CUI:C0008526 disease_ontology DOID:11406 choroiditis Syphilitic disseminated retinochoroiditis (disorder) disease_ontology DOID:11409 syphilitic disseminated chorioretinitis true Syphilitic disseminated retinochoroiditis (disorder) SNOMEDCT_2005_07_31:77939001 Alternating exotropia with V pattern (disorder) disease_ontology DOID:1141 alternating exotropia with V pattern true Alternating exotropia with V pattern (disorder) SNOMEDCT_2005_07_31:57805002 A Trichomonas vaginalis trichomoniasis that involves inflammation of the urethra caused by Trichomonas vaginalis, which results in pain during urination. Trichomonal urethritis (disorder) trichomonal urethritis disease_ontology DOID:11418 Trichomonas urethritis true A Trichomonas vaginalis trichomoniasis that involves inflammation of the urethra caused by Trichomonas vaginalis, which results in pain during urination. url:http://www.dpd.cdc.gov/dpdx/HTML/Trichomoniasis.htm Trichomonal urethritis (disorder) SNOMEDCT_2005_07_31:30116001 ICD10CM:H50.15 ICD9CM:378.15 MESH:D005099 SNOMEDCT_US_2016_03_01:194093000 SNOMEDCT_US_2016_03_01:37214009 UMLS_CUI:C0152207 disease_ontology DOID:1142 alternating exotropia Cavovarus deformity of foot, acquired acquired cavovarus deformity of foot (disorder) disease_ontology DOID:11421 acquired cavovarus foot deformity true Cavovarus deformity of foot, acquired ICD9CM_2006:736.75 acquired cavovarus deformity of foot (disorder) SNOMEDCT_2005_07_31:65362007 ICD10CM:N80.2 ICD9CM:617.2 NCI:C26763 SNOMEDCT_US_2016_03_01:22611009 UMLS_CUI:C0014177 Endometriosis of fallopian tube disease_ontology DOID:11424 fallopian tube endometriosis Endometriosis of fallopian tube ICD9CM_2006:617.2 NCI:C40121 SNOMEDCT_US_2016_03_01:55850004 UMLS_CUI:C0269106 disease_ontology DOID:11427 endosalpingiosis ICD10CM:N80.5 ICD9CM:617.5 SNOMEDCT_US_2016_03_01:198255005 SNOMEDCT_US_2016_03_01:5562006 UMLS_CUI:C0156347 disease_ontology DOID:11428 endometriosis of intestine ICD10CM:N80.3 ICD9CM:617.3 SNOMEDCT_US_2016_03_01:198251001 SNOMEDCT_US_2016_03_01:198252008 UMLS_CUI:C0156345 disease_ontology DOID:11429 endometriosis of pelvic peritoneum ICD10CM:H50.1 ICD10CM:H50.10 ICD9CM:378.1 ICD9CM:378.10 MESH:D005099 NCI:C34601 SNOMEDCT_US_2016_03_01:155194007 SNOMEDCT_US_2016_03_01:194086004 SNOMEDCT_US_2016_03_01:194098009 SNOMEDCT_US_2016_03_01:399054005 SNOMEDCT_US_2016_03_01:399252000 SNOMEDCT_US_2016_03_01:75400001 UMLS_CUI:C0015310 Divergent Strabismus Divergent concomitant strabismus disease_ontology DOID:1143 exotropia Divergent Strabismus NCI2004_11_17:C34601 Divergent concomitant strabismus MTHICD9_2006:378.1 ICD10CM:N80.6 ICD9CM:617.6 SNOMEDCT_US_2016_03_01:53913001 UMLS_CUI:C0156348 disease_ontology DOID:11430 endometriosis in scar of skin ICD10CM:N80.4 ICD9CM:617.4 SNOMEDCT_US_2016_03_01:198253003 SNOMEDCT_US_2016_03_01:198254009 UMLS_CUI:C0156346 disease_ontology DOID:11431 endometriosis of rectovaginal septum and vagina DOID:11426 ICD10CM:N80.1 ICD9CM:617.1 NCI:C27628 SNOMEDCT_US_2016_03_01:198250000 SNOMEDCT_US_2016_03_01:266589005 SNOMEDCT_US_2016_03_01:31007005 UMLS_CUI:C0156344 ovarian endometriosis disease_ontology DOID:11432 endometriosis of ovary recurrent cholesteatoma of postmastoidectomy cavity recurrent cholesteatoma of postmastoidectomy cavity (disorder) disease_ontology DOID:11436 recurrent cholesteatoma post-mastoidectomy true recurrent cholesteatoma of postmastoidectomy cavity ICD9CM_2006:383.32 recurrent cholesteatoma of postmastoidectomy cavity (disorder) SNOMEDCT_2005_07_31:55417009 Macrodactylia of toes (disorder) disease_ontology DOID:11441 macrodactylia of toes true Macrodactylia of toes (disorder) SNOMEDCT_2005_07_31:4136000 Mast cell malignancy of lymph nodes of head, face and neck (disorder) malignant mast cell tumor of lymph nodes of head, face and/or neck (disorder) malignant mast cell tumors involving lymph nodes of head, face, and neck disease_ontology DOID:11442 malignant mast cell tumors involving lymph node of head true Mast cell malignancy of lymph nodes of head, face and neck (disorder) SNOMEDCT_2005_07_31:188662007 malignant mast cell tumor of lymph nodes of head, face and/or neck (disorder) SNOMEDCT_2005_07_31:93204001 malignant mast cell tumors involving lymph nodes of head, face, and neck ICD9CM_2006:202.61 MESH:D020426 SNOMEDCT_US_2016_03_01:52585001 UMLS_CUI:C0149940 disease_ontology DOID:11446 PRISM. sciatic neuropathy A hypersensitivity vasculitis that results_in inflammation of small blood vessels, characterized clinically by palpable purpura, which is a slightly elevated purpuric rash over one or more areas of the skin. Allergic Cutaneous Angiitis Autoimmune Hypersensitivity angiitis disease_ontology DOID:11450 allergic cutaneous vasculitis A hypersensitivity vasculitis that results_in inflammation of small blood vessels, characterized clinically by palpable purpura, which is a slightly elevated purpuric rash over one or more areas of the skin. sn:IEDB Allergic Cutaneous Angiitis NCI2004_11_17:C35119 acute secondary syphilitic meningitis (disorder) acute syphilitic meningitis (secondary) secondary acute syphilitic meningitis disease_ontology DOID:11451 secondary syphilitic meningitis true acute secondary syphilitic meningitis (disorder) SNOMEDCT_2005_07_31:186863009 acute syphilitic meningitis (secondary) ICD9CM_2006:091.81 ICD9CM:774.4 SNOMEDCT_US_2016_03_01:10877007 SNOMEDCT_US_2016_03_01:206463003 SNOMEDCT_US_2016_03_01:206467002 UMLS_CUI:C0158976 Perinatal jaundice due to hepatocellular damage (disorder) Perinatal jaundice due to hepatocellular damage NOS (disorder) disease_ontology DOID:11452 perinatal jaundice due to hepatocellular damage Perinatal jaundice due to hepatocellular damage (disorder) SNOMEDCT_2005_07_31:10877007 Perinatal jaundice due to hepatocellular damage NOS (disorder) SNOMEDCT_2005_07_31:206467002 ICD10CM:G93.5 ICD9CM:348.4 SNOMEDCT_US_2016_03_01:193053006 SNOMEDCT_US_2016_03_01:46963008 UMLS_CUI:C0009592 disease_ontology DOID:11457 brain compression ICD10CM:G93.2 ICD9CM:348.2 MESH:D011559 NCI:C85035 OMIM:243200 SNOMEDCT_US_2016_03_01:155052007 SNOMEDCT_US_2016_03_01:267701004 SNOMEDCT_US_2016_03_01:68267002 UMLS_CUI:C0033845 Pseudotumor cerebri benign intracran. hypt. benign intracranial hypertension benign intracranial hypertension (disorder) idiopathic intracranial hypertension disease_ontology DOID:11459 OMIM mapping confirmed by DO. [SN]. pseudotumor cerebri Pseudotumor cerebri MTHICD9_2006:348.2 benign intracran. hypt. SNOMEDCT_2005_07_31:155052007 benign intracran. hypt. SNOMEDCT_2005_07_31:267701004 benign intracranial hypertension ICD9CM_2006:348.2 benign intracranial hypertension (disorder) SNOMEDCT_2005_07_31:68267002 ICD9CM:337.1 UMLS_CUI:C0154691 autonomic nervous system disorder disease_ontology DOID:11465 autonomic nervous system disease ICD10CM:C32.2 ICD9CM:161.2 NCI:C3546 SNOMEDCT_US_2016_03_01:154483008 SNOMEDCT_US_2016_03_01:269559002 SNOMEDCT_US_2016_03_01:363430007 SNOMEDCT_US_2016_03_01:94075002 UMLS_CUI:C0153485 Ca larynx - subglottis Ca larynx - subglottis (disorder) malignant Subglottic tumor malignant tumor of subglottis (disorder) disease_ontology DOID:11472 subglottis cancer Ca larynx - subglottis SNOMEDCT_2005_07_31:154483008 Ca larynx - subglottis (disorder) SNOMEDCT_2005_07_31:269559002 malignant Subglottic tumor NCI2004_11_17:C3546 malignant tumor of subglottis (disorder) SNOMEDCT_2005_07_31:363430007 A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength. EFO:0003882 ICD10CM:M81.0 ICD9CM:733.0 ICD9CM:733.00 MESH:D010024 MESH:D015663 NCI:C3298 OMIM:166710 SNOMEDCT_US_2016_03_01:156825006 SNOMEDCT_US_2016_03_01:203428004 SNOMEDCT_US_2016_03_01:203440004 SNOMEDCT_US_2016_03_01:64859006 UMLS_CUI:C0029456 disease_ontology DOID:11476 Xref MGI. osteoporosis A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength. url:http://en.wikipedia.org/wiki/Osteoporosis url:http://orthoinfo.aaos.org/topic.cfm?topic=a00232 url:http://www.emedicinehealth.com/osteoporosis/article_em.htm url:http://www.mayoclinic.com/health/osteoporosis/DS00128 url:http://www.medicinenet.com/osteoporosis/article.htm url:http://www.niams.nih.gov/Health_Info/Bone/default.asp url:http://www.nlm.nih.gov/medlineplus/ency/article/000360.htm url:http://www.nof.org/ DOID:14779 ICD10CM:Q69 ICD10CM:Q69.9 ICD9CM:755.0 ICD9CM:755.00 MESH:C562429 MESH:D017689 NCI:C87110 OMIM:174200 OMIM:174500 OMIM:174700 OMIM:603596 SNOMEDCT_US_2016_03_01:156988007 SNOMEDCT_US_2016_03_01:205119005 SNOMEDCT_US_2016_03_01:205120004 SNOMEDCT_US_2016_03_01:205136002 SNOMEDCT_US_2016_03_01:367506006 SNOMEDCT_US_2016_03_01:403562000 SNOMEDCT_US_2016_03_01:74537000 UMLS_CUI:C0152427 UMLS_CUI:C0220697 postaxial polydactyly disease_ontology Supernumerary digit DOID:1148 polydactyly Supernumerary digit SNOMEDCT_2005_07_31:205119005 ICD9CM:423.2 MESH:D010494 NCI:C78246 SNOMEDCT_US_2016_03_01:155340008 SNOMEDCT_US_2016_03_01:194969008 SNOMEDCT_US_2016_03_01:85598007 UMLS_CUI:C0031048 Constrictive pericarditis Constrictive pericarditis (disorder) Constrictive pericarditis NOS (disorder) disease_ontology DOID:11481 constrictive pericarditis Constrictive pericarditis ICD9CM_2006:423.2 Constrictive pericarditis SNOMEDCT_2005_07_31:155340008 Constrictive pericarditis (disorder) SNOMEDCT_2005_07_31:85598007 Constrictive pericarditis NOS (disorder) SNOMEDCT_2005_07_31:194969008 A pericardial effusion that results from blood in the pericardial sac. ICD9CM:423.0 MESH:D010490 NCI:C111644 SNOMEDCT_US_2016_03_01:155339006 SNOMEDCT_US_2016_03_01:23412002 UMLS_CUI:C0019064 Haemopericardium disease_ontology DOID:11482 hemopericardium A pericardial effusion that results from blood in the pericardial sac. url:http://en.wikipedia.org/wiki/Hemopericardium Haemopericardium SNOMEDCT_2005_07_31:155339006 ICD10CM:G90.2 MESH:D006732 NCI:C28155 SNOMEDCT_US_2016_03_01:12731000 SNOMEDCT_US_2016_03_01:192915005 SNOMEDCT_US_2016_03_01:192922002 SNOMEDCT_US_2016_03_01:271730003 UMLS_CUI:C0019937 Bernard Horner syndrome Horner syndrome cervical sympathetic paralysis disease_ontology DOID:11486 Horner's syndrome Bernard Horner syndrome CSP2005:1114-9021 cervical sympathetic paralysis SNOMEDCT_2005_07_31:12731000 ICD10CM:G90.0 ICD10CM:G90.09 ICD9CM:337.0 SNOMEDCT_US_2016_03_01:192914009 SNOMEDCT_US_2016_03_01:192916006 SNOMEDCT_US_2016_03_01:86489003 UMLS_CUI:C0154690 Idiopathic peripheral autonomic neuropathy (disorder) Idiopathic peripheral autonomic neuropathy NOS (disorder) disease_ontology DOID:11488 idiopathic peripheral autonomic neuropathy Idiopathic peripheral autonomic neuropathy (disorder) SNOMEDCT_2005_07_31:86489003 Idiopathic peripheral autonomic neuropathy NOS (disorder) SNOMEDCT_2005_07_31:192916006 vitamin A deficiency with Bitot's spot AND conjunctival xerosis (disorder) vitamin A deficiency with Bitot's spot AND conjunctival xerosis [dup] (disorder) disease_ontology DOID:11489 vitamin A deficiency with conjunctival xerosis and Bitot's spot true vitamin A deficiency with Bitot's spot AND conjunctival xerosis (disorder) SNOMEDCT_2005_07_31:49340009 vitamin A deficiency with Bitot's spot AND conjunctival xerosis [dup] (disorder) SNOMEDCT_2005_07_31:190610009 vitamin A deficiency with night blindness (disorder) disease_ontology DOID:11490 vitamin A deficiency with night blindness true vitamin A deficiency with night blindness (disorder) SNOMEDCT_2005_07_31:15509004 ICD10CM:H53.62 ICD9CM:368.62 SNOMEDCT_US_2016_03_01:53808001 UMLS_CUI:C0152202 acquired night blindness (disorder) disease_ontology DOID:11491 acquired night blindness acquired night blindness (disorder) SNOMEDCT_2005_07_31:53808001 A pericardial effusion in which fluid accumulates in the pericardium (the sac in which the heart is enclosed) and the pericardial spaces fills up faster than the pericardial sac can stretch. ICD10CM:I31.4 ICD9CM:423.3 MESH:D002305 NCI:C50481 SNOMEDCT_US_2016_03_01:155341007 SNOMEDCT_US_2016_03_01:194975004 SNOMEDCT_US_2016_03_01:266295005 SNOMEDCT_US_2016_03_01:35304003 UMLS_CUI:C0007177 Rose's tamponade pericardial tamponade disease_ontology DOID:115 cardiac tamponade A pericardial effusion in which fluid accumulates in the pericardium (the sac in which the heart is enclosed) and the pericardial spaces fills up faster than the pericardial sac can stretch. url:http://en.wikipedia.org/wiki/Cardiac_tamponade url:http://www.nlm.nih.gov/medlineplus/ency/article/000194.htm Rose's tamponade CSP2005:1393-3373 DOID:11173 DOID:1149 DOID:1292 bone and joint disorder of back, pelvis and lower limbs of mother, antepartum bone and joint disorder of back, pelvis and lower limbs of mother, postpartum bone and joint disorder of back, pelvis and lower limbs of mother, with delivery bone and joint disorder of back, pelvis, and lower limbs of mother, antepartum bone and joint disorder of back, pelvis, and lower limbs of mother, postpartum bone and joint disorder of back, pelvis, and lower limbs of mother, with delivery disease_ontology DOID:1150 bone and joint disorder of back, pelvis and lower limbs of mother, complicating pregnancy, childbirth, or the puerperium true bone and joint disorder of back, pelvis, and lower limbs of mother, antepartum ICD9CM_2006:648.73 bone and joint disorder of back, pelvis, and lower limbs of mother, postpartum ICD9CM_2006:648.74 bone and joint disorder of back, pelvis, and lower limbs of mother, with delivery ICD9CM_2006:648.71 DOID:11737 DOID:13947 ICD10CM:Q23.3 ICD9CM:396.3 ICD9CM:746.6 MESH:D008944 NCI:C50852 NCI:C50888 SNOMEDCT_US_2016_03_01:194736003 SNOMEDCT_US_2016_03_01:194977007 SNOMEDCT_US_2016_03_01:233857005 SNOMEDCT_US_2016_03_01:29928006 SNOMEDCT_US_2016_03_01:48724000 UMLS_CUI:C0026266 UMLS_CUI:C0158619 UMLS_CUI:C0264774 Congenital insufficiency of mitral valve (disorder) Mitral valve incompetence congenital mitral insufficiency congenital mitral regurgitation mitral regurgitation disease_ontology DOID:11502 mitral valve insufficiency Congenital insufficiency of mitral valve (disorder) SNOMEDCT_2005_07_31:29928006 Mitral valve incompetence SNOMEDCT_2005_07_31:194977007 congenital mitral insufficiency SNOMEDCT_2005_07_31:233857005 mitral regurgitation CSP2005:1393-3923 MESH:D003929 NCI:C27068 SNOMEDCT_US_2016_03_01:50620007 UMLS_CUI:C0271686 Diabetic autonomic neuropathy (disorder) disease_ontology DOID:11503 diabetic autonomic neuropathy Diabetic autonomic neuropathy (disorder) SNOMEDCT_2005_07_31:50620007 CSP:2042-2001 CSP:2049-9000 NCI:C27033 SNOMEDCT_US_2016_03_01:277879009 UMLS_CUI:C0259749 disease_ontology DOID:11504 autonomic neuropathy A otitis media which involves inflammation of the middle ear with infected effusion containing pus. ICD10CM:H66 ICD10CM:H66.4 ICD10CM:H66.40 ICD9CM:382 ICD9CM:382.4 MESH:D010035 SNOMEDCT_US_2016_03_01:155229002 SNOMEDCT_US_2016_03_01:194258000 SNOMEDCT_US_2016_03_01:194280002 SNOMEDCT_US_2016_03_01:194285007 SNOMEDCT_US_2016_03_01:267758003 SNOMEDCT_US_2016_03_01:38394007 SNOMEDCT_US_2016_03_01:39288006 UMLS_CUI:C0029888 Otitis media with effusion - purulent Purulent otitis media disease_ontology DOID:11506 suppurative otitis media A otitis media which involves inflammation of the middle ear with infected effusion containing pus. url:http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA129&lpg#v=onepage&q=&f=false Otitis media with effusion - purulent SNOMEDCT_2005_07_31:38394007 Purulent otitis media MTHICD9_2006:382.4 An eating disorder that is characterized by effortless regurgitation of most meals following consumption. ICD9CM:307.53 MESH:D019959 NCI:C92567 SNOMEDCT_US_2016_03_01:37941009 UMLS_CUI:C0154575 Psychogenic rumination (disorder) disease_ontology DOID:11507 rumination disorder An eating disorder that is characterized by effortless regurgitation of most meals following consumption. url:http://en.wikipedia.org/wiki/Rumination_syndrome Psychogenic rumination (disorder) SNOMEDCT_2005_07_31:192014006 ICD10CM:I82.0 MESH:D006502 SNOMEDCT_US_2016_03_01:195436007 SNOMEDCT_US_2016_03_01:38739001 UMLS_CUI:C0019154 hepatic vein thrombosis disease_ontology DOID:11512 Budd-Chiari syndrome ICD10CM:K14.5 ICD9CM:529.5 MESH:D014063 OMIM:137400 SNOMEDCT_US_2016_03_01:204627005 SNOMEDCT_US_2016_03_01:52368004 UMLS_CUI:C0040412 Congenital fissure of tongue Congenital plicated tongue Fissure of tongue Fissure of tongue, congenital Furrowed tongue Plicated tongue Tongue, Fissured geographic tongue and fissured tongue lingua plicata scrotal tongue disease_ontology DOID:11514 OMIM mapping confirmed by DO. [SN]. fissured tongue Congenital fissure of tongue SNOMEDCT_2005_07_31:3803006 Congenital plicated tongue SNOMEDCT_2005_07_31:204631004 Fissure of tongue SNOMEDCT_2005_07_31:204627005 Fissure of tongue, congenital ICD9CM_2006:750.13 Furrowed tongue MTHICD9_2006:529.5 Plicated tongue ICD9CM_2006:529.5 A heart disease that is caused by high blood pressure. ICD10CM:I11 ICD10CM:I11.9 ICD9CM:402 ICD9CM:402.9 SNOMEDCT_US_2016_03_01:155297007 SNOMEDCT_US_2016_03_01:194769003 SNOMEDCT_US_2016_03_01:194772005 SNOMEDCT_US_2016_03_01:64715009 UMLS_CUI:C0152105 disease_ontology DOID:11516 hypertensive heart disease A heart disease that is caused by high blood pressure. url:http://en.wikipedia.org/wiki/Heart_disease url:http://en.wikipedia.org/wiki/Hypertensive_heart_disease ICD10CM:H57.09 ICD9CM:379.49 UMLS_CUI:C0155376 disease_ontology DOID:11518 abnormal pupillary function ICD9CM:403.1 ICD9CM:403.10 SNOMEDCT_US_2016_03_01:193003 UMLS_CUI:C0155596 benign hypertensive renal disease (disorder) hypertensive renal disease, benign hypertensive renal disease, benign, without mention of renal failure disease_ontology DOID:11520 benign hypertensive renal disease benign hypertensive renal disease (disorder) SNOMEDCT_2005_07_31:193003 hypertensive renal disease, benign ICD9CM_2006:403.1 hypertensive renal disease, benign, without mention of renal failure ICD9CM_2006:403.10 A commensal Clostridium infectious disease that is caused by ingestion of food contaminated with Clostridium perfringens, which produces an enterotoxin that acts on the small intestine. The symptoms include watery diarrhea, abdominal cramps, a severe decrease in blood pressure and abdominal expansion from gas. Clostridium perfringens food poisoning Food poisoning due to C. welchii Food poisoning due to Clostridium perfringens (disorder) Food poisoning due to Clostridium perfringens [C. welchii] food poisoning due to clostridium perfringens disease_ontology DOID:11523 Clostridium perfringens gastroenteritis true A commensal Clostridium infectious disease that is caused by ingestion of food contaminated with Clostridium perfringens, which produces an enterotoxin that acts on the small intestine. The symptoms include watery diarrhea, abdominal cramps, a severe decrease in blood pressure and abdominal expansion from gas. url:http://www.cdc.gov/mmwr/preview/mmwrhtml/00025191.htm url:http://www.merck.com/mmpe/sec14/ch178/ch178g.html Clostridium perfringens food poisoning SNOMEDCT_2005_07_31:186111000 Food poisoning due to C. welchii MTHICD9_2006:005.2 Food poisoning due to Clostridium perfringens (disorder) SNOMEDCT_2005_07_31:70014009 Food poisoning due to Clostridium perfringens [C. welchii] ICD9CM_2006:005.2 disease_ontology DOID:11524 Hyphema of iris and ciliary body true vascular disorder of iris and ciliary body disease_ontology DOID:11525 Iris and ciliary body vascular disorder true vascular disorder of iris and ciliary body ICD9CM_2006:364.4 ICD10CM:J38.6 ICD9CM:478.74 MESH:D007829 NCI:C79608 SNOMEDCT_US_2016_03_01:195864007 SNOMEDCT_US_2016_03_01:75547007 UMLS_CUI:C0023075 Stenosis of larynx disease_ontology DOID:11527 laryngostenosis Stenosis of larynx SNOMEDCT_2005_07_31:195864007 disease_ontology DOID:11535 dysplasia of prostate true ICD10CM:H18.83 ICD9CM:371.42 SNOMEDCT_US_2016_03_01:155157003 SNOMEDCT_US_2016_03_01:2055003 SNOMEDCT_US_2016_03_01:267732003 UMLS_CUI:C0155119 recurrent erosion of cornea recurrent erosion syndrome disease_ontology DOID:11541 recurrent corneal erosion recurrent erosion of cornea ICD9CM_2006:371.42 recurrent erosion syndrome SNOMEDCT_2005_07_31:2055003 ICD10CM:H16.31 ICD9CM:370.55 NCI:C26969 SNOMEDCT_US_2016_03_01:64366002 UMLS_CUI:C0155091 disease_ontology DOID:11543 corneal abscess ICD10CM:H18.00 ICD9CM:371.10 SNOMEDCT_US_2016_03_01:193803001 SNOMEDCT_US_2016_03_01:193804007 SNOMEDCT_US_2016_03_01:74460005 UMLS_CUI:C0162281 Deposits - cornea disease_ontology DOID:11547 corneal deposit Deposits - cornea SNOMEDCT_2005_07_31:193803001 A syndrome that is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. It is characterized by one eye with a pupil that is larger than normal and constricts slowly in bright light (tonic pupil), along with the absence of deep tendon reflexes, usually in the Achilles tendon. MESH:D000270 NCI:C34357 OMIM:103100 SNOMEDCT_US_2016_03_01:123051004 SNOMEDCT_US_2016_03_01:24225004 UMLS_CUI:C0001519 Adie's pupil or syndrome Adie's pupil syndrome Adie's syndrome Holmes-Adie syndrome disease_ontology DOID:11549 OMIM mapping confirmed by DO. [SN]. Adie syndrome A syndrome that is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. It is characterized by one eye with a pupil that is larger than normal and constricts slowly in bright light (tonic pupil), along with the absence of deep tendon reflexes, usually in the Achilles tendon. url:http://en.wikipedia.org/wiki/Adie_syndrome url:http://www.ninds.nih.gov/disorders/holmes_adie/holmes_adie.htm url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Adie's%20syndrome Adie's pupil or syndrome MTHICD9_2006:379.46 Adie's pupil syndrome SNOMEDCT_2005_07_31:24225004 Holmes-Adie syndrome NCI2004_11_17:C34357 ICD10CM:H49.0 MESH:D015840 NCI:C27597 SNOMEDCT_US_2016_03_01:12900003 SNOMEDCT_US_2016_03_01:30764004 SNOMEDCT_US_2016_03_01:388980004 UMLS_CUI:C0028866 III nerve palsy IIIrd nerve Paralysis Third cranial nerve paralysis, NOS disease_ontology DOID:11550 oculomotor nerve paralysis III nerve palsy SNOMEDCT_2005_07_31:12900003 III nerve palsy SNOMEDCT_2005_07_31:388980004 IIIrd nerve Paralysis NCI2004_11_17:C27597 Third cranial nerve paralysis, NOS SNOMEDCT_2005_07_31:30764004 ICD10CM:H18.31 ICD9CM:371.31 SNOMEDCT_US_2016_03_01:193820002 SNOMEDCT_US_2016_03_01:45382000 UMLS_CUI:C0155115 Bowman membrane folds or rupture disease_ontology DOID:11552 Bowman's membrane folds or rupture ICD10CM:H18.51 ICD9CM:371.57 MESH:D057129 SNOMEDCT_US_2016_03_01:16949007 SNOMEDCT_US_2016_03_01:231935005 SNOMEDCT_US_2016_03_01:392481002 SNOMEDCT_US_2016_03_01:404632009 SNOMEDCT_US_2016_03_01:416960004 UMLS_CUI:C0544008 Chandler's syndrome (disorder) Dystrophy of corneal endothelium Endothelial corneal dystrophy Posterior membrane corneal dystrophy disease_ontology DOID:11554 Chandler syndrome Chandler's syndrome (disorder) SNOMEDCT_2005_07_31:404632009 Dystrophy of corneal endothelium SNOMEDCT_2005_07_31:416960004 Endothelial corneal dystrophy ICD9CM_2006:371.57 Posterior membrane corneal dystrophy SNOMEDCT_2005_07_31:231935005 A corneal dystrophy characterized by accumulation of focal outgrowths (guttae) and thickening of Descemet's membrane, leading to corneal edema and loss of vision. EFO:0003946 ICD10CM:H18.51 MESH:D005642 NCI:C84721 OMIM:136800 OMIM:610158 OMIM:613267 OMIM:613268 OMIM:613269 OMIM:613270 OMIM:613271 OMIM:615523 ORDO:98974 SNOMEDCT_US_2016_03_01:16949007 SNOMEDCT_US_2016_03_01:193839007 SNOMEDCT_US_2016_03_01:393581005 UMLS_CUI:C0016781 FCED Fuchs' corneal dystrophy Fuchs' endothelial corneal dystrophy disease_ontology DOID:11555 Xref MGI. Fuchs' endothelial dystrophy A corneal dystrophy characterized by accumulation of focal outgrowths (guttae) and thickening of Descemet's membrane, leading to corneal edema and loss of vision. url:http://en.wikipedia.org/wiki/Fuchs%27_dystrophy url:http://ghr.nlm.nih.gov/condition/fuchs-endothelial-dystrophy url:http://rarediseases.info.nih.gov/gard/10018/corneal-dystrophy-fuchs-endothelial-1/resources/1 url:http://www.mayoclinic.org/diseases-conditions/fuchs-dystrophy/basics/definition/con-20023893?_ga=1.163328703.2017809229.1415219956 Fuchs' corneal dystrophy SNOMEDCT_2005_07_31:393581005 Fuchs' endothelial corneal dystrophy SNOMEDCT_2005_07_31:193839007 A acute transudative otitis media with thin, watery and sterile effusion. ICD10CM:H65.0 ICD10CM:H65.00 ICD9CM:381.01 SNOMEDCT_US_2016_03_01:11957006 SNOMEDCT_US_2016_03_01:194240006 UMLS_CUI:C0155415 acute non-suppurative otitis media - serous disease_ontology DOID:11557 acute serous otitis media A acute transudative otitis media with thin, watery and sterile effusion. url:http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA127&lpg#v=onepage&q=&f=false acute non-suppurative otitis media - serous SNOMEDCT_2005_07_31:194240006 A acute serous otitis media caused by an allergen. ICD9CM:381.04 SNOMEDCT_US_2016_03_01:194241005 SNOMEDCT_US_2016_03_01:59275002 UMLS_CUI:C0155418 disease_ontology DOID:11558 acute allergic serous otitis media A acute serous otitis media caused by an allergen. url:http://www.ncbi.nlm.nih.gov/pubmed/15301306 An arthritis that has_material_basis_in the accumulation of salt crystals located_in joint. DOID:11303 DOID:1155 DOID:12090 DOID:12102 DOID:12945 DOID:13298 DOID:13299 DOID:13301 DOID:13302 DOID:13303 DOID:13304 DOID:14143 DOID:14220 DOID:14513 DOID:1834 DOID:1945 DOID:2486 HP:0000934 ICD9CM:712.1 MESH:D002805 NCI:C34955 OMIM:118600 OMIM:118610 OMIM:600668 ORDO:1416 SNOMEDCT_US_2016_03_01:156881000 SNOMEDCT_US_2016_03_01:201624004 SNOMEDCT_US_2016_03_01:201625003 SNOMEDCT_US_2016_03_01:201636005 SNOMEDCT_US_2016_03_01:239834007 SNOMEDCT_US_2016_03_01:268142006 SNOMEDCT_US_2016_03_01:60782007 UMLS_CUI:C0033802 UMLS_CUI:C0157852 calcium pyrophosphate deposition disease pseudogout disease_ontology DOID:1156 Xref MGI. chondrocalcinosis An arthritis that has_material_basis_in the accumulation of salt crystals located_in joint. url:http://en.wikipedia.org/wiki/Chondrocalcinosis url:http://my.clevelandclinic.org/disorders/pseudogout/hic_pseudogout.aspx url:http://www.mayoclinic.com/health/pseudogout/DS00717 url:http://www.merckmanuals.com/professional/sec04/ch035/ch035c.html url:http://www.nlm.nih.gov/medlineplus/ency/article/000421.htm url:http://www.rheumatology.org/practice/clinical/patients/diseases_and_conditions/pseudogout.asp ICD10CM:H35.03 ICD9CM:362.11 MESH:D058437 NCI:C3514 SNOMEDCT_US_2016_03_01:155108001 SNOMEDCT_US_2016_03_01:193356005 SNOMEDCT_US_2016_03_01:193358006 SNOMEDCT_US_2016_03_01:421731000 SNOMEDCT_US_2016_03_01:422001004 SNOMEDCT_US_2016_03_01:6962006 UMLS_CUI:C0152132 disease_ontology DOID:11561 hypertensive retinopathy ICD10CM:H35.06 ICD9CM:362.18 MESH:D031300 SNOMEDCT_US_2016_03_01:193367006 SNOMEDCT_US_2016_03_01:77628002 UMLS_CUI:C0152026 Retinal vasculitis Retinal vasculitis (disorder) Retinal vasculitis NOS (disorder) disease_ontology DOID:11563 retinal vasculitis Retinal vasculitis ICD9CM_2006:362.18 Retinal vasculitis (disorder) SNOMEDCT_2005_07_31:77628002 Retinal vasculitis NOS (disorder) SNOMEDCT_2005_07_31:193367006 A somatoform disorder that involves heart disease symptoms without any identifiable physiological abnormatlities. ICD9CM:306.2 MESH:D009449 SNOMEDCT_US_2016_03_01:154922007 SNOMEDCT_US_2016_03_01:191960008 SNOMEDCT_US_2016_03_01:191961007 SNOMEDCT_US_2016_03_01:191962000 SNOMEDCT_US_2016_03_01:191963005 SNOMEDCT_US_2016_03_01:192434000 SNOMEDCT_US_2016_03_01:46219009 SNOMEDCT_US_2016_03_01:72994002 UMLS_CUI:C0027821 Cardiovascular malfunction arising from mental factors Cardiovascular neurosis Da Costa's syndrome Krishaber's disease disease_ontology DOID:11569 neurocirculatory asthenia A somatoform disorder that involves heart disease symptoms without any identifiable physiological abnormatlities. url:http://en.wikipedia.org/wiki/Da_Costa%27s_syndrome url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1277260/ Cardiovascular malfunction arising from mental factors ICD9CM_2006:306.2 Cardiovascular neurosis MTHICD9_2006:306.2 Da Costa's syndrome SNOMEDCT_2005_07_31:46219009 Krishaber's disease SNOMEDCT_2005_07_31:72994002 MESH:D008584 SNOMEDCT_US_2016_03_01:230151007 SNOMEDCT_US_2016_03_01:31568009 UMLS_CUI:C0025293 disease_ontology DOID:11572 Listeria meningitis A primary bacterial infectious disease that results_in infection, has_material_basis_in Listeria monocytogenes, which is transmitted_by ingestion of contaminated food or raw milk or transmitted_by congenital method. Ingestion of Listeria by pregnant women has_symptom nausea, has_symptom vomiting, has_symptom diarrhea, has_symptom fever, has_symptom malaise, has_symptom back pain, and has_symptom headache. Maternal infection with Listeria can result in chorioamnionitis, premature labor, spontaneous abortion, or stillbirth. ICD10CM:A32 ICD10CM:A32.9 ICD9CM:027.0 MESH:D008088 NCI:C82994 SNOMEDCT_US_2016_03_01:186315001 SNOMEDCT_US_2016_03_01:186320001 SNOMEDCT_US_2016_03_01:187320005 SNOMEDCT_US_2016_03_01:406591006 SNOMEDCT_US_2016_03_01:4241002 UMLS_CUI:C0023860 Infection by Listeria monocytogenes Listeria infection disease_ontology DOID:11573 listeriosis A primary bacterial infectious disease that results_in infection, has_material_basis_in Listeria monocytogenes, which is transmitted_by ingestion of contaminated food or raw milk or transmitted_by congenital method. Ingestion of Listeria by pregnant women has_symptom nausea, has_symptom vomiting, has_symptom diarrhea, has_symptom fever, has_symptom malaise, has_symptom back pain, and has_symptom headache. Maternal infection with Listeria can result in chorioamnionitis, premature labor, spontaneous abortion, or stillbirth. url:http://emedicine.medscape.com/article/965841-overview#a0104 url:http://www.nlm.nih.gov/medlineplus/ency/article/001380.htm Infection by Listeria monocytogenes MTHICD9_2006:027.0 Listeria infection CSP2005:0368-3200 ICD10CM:G00.2 ICD9CM:320.2 SNOMEDCT_US_2016_03_01:4510004 UMLS_CUI:C0154639 disease_ontology DOID:11574 streptococcal meningitis Pneumococcal meningitis Pneumococcal meningitis (disorder) disease_ontology DOID:11575 pneumococcal meningitis true Pneumococcal meningitis ICD9CM_2006:320.1 Pneumococcal meningitis (disorder) SNOMEDCT_2005_07_31:51169003 A peripheral nervous system disease that involves an acute loss of function of the lumbar plexus, neurologic elements (nerve roots) of the spinal canal below the termination (conus) of the spinal cord. ICD10CM:G83.4 ICD9CM:344.6 MESH:D011128 NCI:C35436 SNOMEDCT_US_2016_03_01:155032006 SNOMEDCT_US_2016_03_01:192970008 SNOMEDCT_US_2016_03_01:192972000 SNOMEDCT_US_2016_03_01:192973005 SNOMEDCT_US_2016_03_01:89356000 UMLS_CUI:C0392548 disease_ontology DOID:11577 Cauda equina syndrome A peripheral nervous system disease that involves an acute loss of function of the lumbar plexus, neurologic elements (nerve roots) of the spinal canal below the termination (conus) of the spinal cord. url:http://en.wikipedia.org/wiki/Cauda_equina_syndrome Escherichia coli meningitis (disorder) Meningitis due to E. coli disease_ontology DOID:11578 Escherichia coli meningitis true Escherichia coli meningitis (disorder) SNOMEDCT_2005_07_31:192655005 Meningitis due to E. coli MTHICD9_2006:320.82 ICD10CM:H16.25 ICD9CM:370.31 SNOMEDCT_US_2016_03_01:193773009 SNOMEDCT_US_2016_03_01:67895005 UMLS_CUI:C0155080 Phlyctenular keratoconjunctivitis Strumous ophthalmia disease_ontology DOID:11581 phlyctenulosis Phlyctenular keratoconjunctivitis SNOMEDCT_2005_07_31:193773009 Strumous ophthalmia SNOMEDCT_2005_07_31:67895005 Syphilitic aortitis Syphilitic aortitis (disorder) disease_ontology DOID:11582 syphilitic aortitis true Syphilitic aortitis ICD9CM_2006:093.1 Syphilitic aortitis SNOMEDCT_2005_07_31:186872001 Syphilitic aortitis (disorder) SNOMEDCT_2005_07_31:20735004 disease_ontology DOID:11584 acute schizophrenic episode in remission true ICD10CM:G90.1 MESH:D004402 NCI:C84706 OMIM:223900 SNOMEDCT_US_2016_03_01:204087006 SNOMEDCT_US_2016_03_01:29159009 UMLS_CUI:C0013364 HSAN III familial autonomic nervous dysfunction familial dysautonomia disease_ontology DOID:11589 OMIM mapping confirmed by DO. [SN]. Riley-Day syndrome HSAN III SNOMEDCT_2005_07_31:29159009 familial autonomic nervous dysfunction CSP2005:0725-5371 familial dysautonomia SNOMEDCT_2005_07_31:204087006 ICD9CM:536.8 UMLS_CUI:C0013396 disease_ontology DOID:1159 functional gastric disease ICD10CM:C67.2 ICD9CM:188.2 NCI:C12333 SNOMEDCT_US_2016_03_01:188241004 SNOMEDCT_US_2016_03_01:93863000 UMLS_CUI:C0496828 Lateral Wall of bladder malignant neoplasm of lateral wall of urinary bladder malignant neoplasm of lateral wall of urinary bladder (disorder) disease_ontology DOID:11593 bladder lateral wall cancer Lateral Wall of bladder NCI2004_11_17:C12333 malignant neoplasm of lateral wall of urinary bladder ICD9CM_2006:188.2 malignant neoplasm of lateral wall of urinary bladder SNOMEDCT_2005_07_31:93863000 malignant neoplasm of lateral wall of urinary bladder (disorder) SNOMEDCT_2005_07_31:188241004 ICD10CM:H15.85 ICD9CM:379.15 SNOMEDCT_US_2016_03_01:5299007 UMLS_CUI:C0155363 disease_ontology DOID:11594 ring staphyloma ICD10CM:H15.84 ICD9CM:379.11 SNOMEDCT_US_2016_03_01:111534007 UMLS_CUI:C0155359 Scleral ectasia disease_ontology DOID:11595 scleral staphyloma Scleral ectasia ICD9CM_2006:379.11 Cold injury syndrome of newborn (disorder) disease_ontology DOID:11597 cold injury syndrome of newborn true Cold injury syndrome of newborn (disorder) SNOMEDCT_2005_07_31:26746005 MESH:D013547 OMIM:144100 SNOMEDCT_US_2016_03_01:238758008 SNOMEDCT_US_2016_03_01:56046002 UMLS_CUI:C0038994 Baillarger syndrome gustatory hyperhidrosis (disorder) gustatory sweating disease_ontology DOID:11599 OMIM mapping confirmed by DO. [SN]. Frey syndrome gustatory hyperhidrosis (disorder) SNOMEDCT_2005_07_31:238758008 DOID:5780 ICD10CM:C38.0 NCI:C4567 NCI:C4651 SNOMEDCT_US_2016_03_01:126734005 SNOMEDCT_US_2016_03_01:187884007 SNOMEDCT_US_2016_03_01:93957005 SNOMEDCT_US_2016_03_01:94997003 UMLS_CUI:C0346609 UMLS_CUI:C0349574 Pericardial tumor malignant neoplasm of pericardium malignant tumor of Pericardium disease_ontology DOID:116 pericardium cancer Pericardial tumor NCI2004_11_17:C4651 malignant tumor of Pericardium NCI2004_11_17:C4567 secondary and unspecified malignant neoplasm lymph nodes of multiple regions (disorder) secondary and unspecified malignant neoplasm of lymph nodes in multiple sites (disorder) secondary and unspecified malignant neoplasm of lymph nodes of multiple sites secondary malignant neoplasm of lymph nodes of multiple sites (disorder) disease_ontology DOID:11600 secondary malignant neoplasm of lymph nodes of multiple site true secondary and unspecified malignant neoplasm lymph nodes of multiple regions (disorder) SNOMEDCT_2005_07_31:190144001 secondary and unspecified malignant neoplasm of lymph nodes in multiple sites (disorder) SNOMEDCT_2005_07_31:188430004 secondary and unspecified malignant neoplasm of lymph nodes of multiple sites ICD9CM_2006:196.8 secondary malignant neoplasm of lymph nodes of multiple sites (disorder) SNOMEDCT_2005_07_31:94396003 ICD10CM:P83.4 ICD9CM:778.7 MESH:D006177 NCI:C117312 SNOMEDCT_US_2016_03_01:157159001 SNOMEDCT_US_2016_03_01:34831003 UMLS_CUI:C1449721 Neonatal gynaecomastia breast engorgement in newborn disease_ontology DOID:11603 infant gynecomastia Neonatal gynaecomastia SNOMEDCT_2005_07_31:157159001 breast engorgement in newborn ICD9CM_2006:778.7 Hydrops fetalis not due to isoimmunization Idiopathic hydrops fetalis (disorder) Idiopathic hydrops fetalis (disorder) [Ambiguous] Non-immune hydrops fetalis Non-immune hydrops fetalis (disorder) Perinatal skin prob. NOS disease_ontology DOID:11604 idiopathic hydrops fetalis true Hydrops fetalis not due to isoimmunization ICD9CM_2006:778.0 Idiopathic hydrops fetalis (disorder) SNOMEDCT_2005_07_31:206538000 Idiopathic hydrops fetalis (disorder) [Ambiguous] SNOMEDCT_2005_07_31:59928009 Non-immune hydrops fetalis SNOMEDCT_2005_07_31:206551005 Non-immune hydrops fetalis (disorder) SNOMEDCT_2005_07_31:276509008 Perinatal skin prob. NOS SNOMEDCT_2005_07_31:157160006 Perinatal skin prob. NOS SNOMEDCT_2005_07_31:268886003 disease_ontology DOID:11606 ileal disease true A candidiasis that involves fungal infection of the meninges caused by Candida species, predominantly in low birth weight neonates with septicemia, resulting in formation of abscesses. Candida meningitis Candidal meningitis (disorder) disease_ontology DOID:11607 candidal meningitis true A candidiasis that involves fungal infection of the meninges caused by Candida species, predominantly in low birth weight neonates with septicemia, resulting in formation of abscesses. url:http://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/ url:http://www.nature.com/jp/journal/v27/n2/pdf/7211628a.pdf Candidal meningitis (disorder) SNOMEDCT_2005_07_31:45021001 A meningitis that has_material_basis_in a fungal infection. MESH:D016921 SNOMEDCT_US_2016_03_01:24321005 UMLS_CUI:C0085438 disease_ontology DOID:11608 fungal meningitis A meningitis that has_material_basis_in a fungal infection. url:https://en.wikipedia.org/wiki/Fungal_meningitis A syndrome characterized by hyperandrogenism, polycystic ovaries, hirsutism, oligomenorrhea or amenorrhea, anovulation and excessive body weight. EFO:0000660 ICD10CM:E28.2 ICD9CM:256.4 MESH:D011085 NCI:C26862 OMIM:184700 SNOMEDCT_US_2016_03_01:154714009 SNOMEDCT_US_2016_03_01:190549002 SNOMEDCT_US_2016_03_01:237055002 SNOMEDCT_US_2016_03_01:237792009 SNOMEDCT_US_2016_03_01:271199009 SNOMEDCT_US_2016_03_01:69878008 UMLS_CUI:C0032460 Multicystic ovaries PCOS Polycystic Ovarian disease Polycystic ovaries Polycystic ovaries (disorder) Polycystic ovary syndrome Stein-Leventhal synd. Stein-Leventhal syndrome polycystic ovary disease_ontology DOID:11612 OMIM mapping confirmed by DO. [SN]. polycystic ovary syndrome A syndrome characterized by hyperandrogenism, polycystic ovaries, hirsutism, oligomenorrhea or amenorrhea, anovulation and excessive body weight. url:http://ghr.nlm.nih.gov/glossary=polycysticovarysyndrome url:http://www.ncbi.nlm.nih.gov/pubmed/?term=20591140 url:https://en.wikipedia.org/wiki/Polycystic_ovary_syndrome Multicystic ovaries SNOMEDCT_2005_07_31:190549002 Multicystic ovaries SNOMEDCT_2005_07_31:237792009 PCOS CSP2005:2587-6155 Polycystic Ovarian disease NCI2004_11_17:C27086 Polycystic ovaries ICD9CM_2006:256.4 Polycystic ovaries (disorder) SNOMEDCT_2005_07_31:69878008 Polycystic ovary syndrome SNOMEDCT_2005_07_31:237055002 Stein-Leventhal synd. SNOMEDCT_2005_07_31:154714009 Stein-Leventhal synd. SNOMEDCT_2005_07_31:271199009 Stein-Leventhal syndrome MTHICD9_2006:256.4 Stein-Leventhal syndrome NCI2004_11_17:C26862 polycystic ovary CSP2005:2587-6111 MESH:D017588 SNOMEDCT_US_2016_03_01:237793004 UMLS_CUI:C0206081 hyperandrogenization syndrome disease_ontology DOID:11613 hyperandrogenism hyperandrogenization syndrome SNOMEDCT_2005_07_31:237793004 DOID:11614 ICD10CM:C60 ICD10CM:C60.2 ICD10CM:C60.9 ICD9CM:187.3 ICD9CM:187.4 MESH:D010412 NCI:C7547 SNOMEDCT_US_2016_03_01:154536009 SNOMEDCT_US_2016_03_01:188230001 SNOMEDCT_US_2016_03_01:188231002 SNOMEDCT_US_2016_03_01:269605006 SNOMEDCT_US_2016_03_01:363516004 SNOMEDCT_US_2016_03_01:93716006 SNOMEDCT_US_2016_03_01:93954003 UMLS_CUI:C0153600 UMLS_CUI:C0153601 Ca penis Penile Ca malignant Penile tumor malignant neoplasm of body of penis penile neoplasm disease_ontology DOID:11615 penile cancer Ca penis SNOMEDCT_2005_07_31:154536009 Penile Ca SNOMEDCT_2005_07_31:93954003 malignant Penile tumor NCI2004_11_17:C7547 ICD10CM:K04.1 ICD9CM:522.1 MESH:D003790 SNOMEDCT_US_2016_03_01:196332000 SNOMEDCT_US_2016_03_01:196334004 SNOMEDCT_US_2016_03_01:42711005 UMLS_CUI:C0011407 necrosis of the pulp necrosis of the pulp NOS (disorder) necrotic pulp pulp necrosis disease_ontology DOID:11623 dental pulp necrosis necrosis of the pulp ICD9CM_2006:522.1 necrosis of the pulp NOS (disorder) SNOMEDCT_2005_07_31:196334004 necrotic pulp SNOMEDCT_2005_07_31:42711005 pulp necrosis SNOMEDCT_2005_07_31:196332000 MESH:D010412 NCI:C3317 SNOMEDCT_US_2016_03_01:126896003 UMLS_CUI:C0030849 Penile tumor neoplasm of penis (disorder) disease_ontology DOID:11624 penile neoplasm Penile tumor NCI2004_11_17:C3317 neoplasm of penis (disorder) SNOMEDCT_2005_07_31:126896003 ICD10CM:N81.84 ICD9CM:618.83 UMLS_CUI:C1456255 disease_ontology DOID:11629 pelvic muscle wasting MESH:D018382 NCI:C85191 OMIM:188570 OMIM:274300 SNOMEDCT_US_2016_03_01:111567006 SNOMEDCT_US_2016_03_01:237559000 SNOMEDCT_US_2016_03_01:237560005 SNOMEDCT_US_2016_03_01:50375007 UMLS_CUI:C2940786 Generalized thyroid hormone resistance (disorder) Refetoff syndrome (disorder) Thyroid hormone resistance syndrome (disorder) Thyroid hormone responsiveness defect (disorder) thyroid hormone resistance disease_ontology DOID:11633 OMIM mapping confirmed by DO. [LS]. thyroid hormone resistance syndrome Generalized thyroid hormone resistance (disorder) SNOMEDCT_2005_07_31:237560005 Refetoff syndrome (disorder) SNOMEDCT_2005_07_31:111567006 Thyroid hormone resistance syndrome (disorder) SNOMEDCT_2005_07_31:237559000 Thyroid hormone responsiveness defect (disorder) SNOMEDCT_2005_07_31:50375007 thyroid hormone resistance CSP2005:2928-9974 thyroid hormone resistance CSP2005:4008-0047 ICD10CM:E03.9 MESH:D009230 NCI:C34834 OMIM:255900 SNOMEDCT_US_2016_03_01:154660000 SNOMEDCT_US_2016_03_01:190274003 SNOMEDCT_US_2016_03_01:267465007 SNOMEDCT_US_2016_03_01:43153006 UMLS_CUI:C0027145 disease_ontology DOID:11634 OMIM mapping confirmed by DO. [SN]. myxedema ICD10CM:H52.53 ICD9CM:367.53 SNOMEDCT_US_2016_03_01:30069002 UMLS_CUI:C0152196 Spasm of accommodation disease_ontology DOID:11637 accommodative spasm Spasm of accommodation ICD9CM_2006:367.53 ICD10CM:H52.4 ICD9CM:367.4 MESH:D011305 SNOMEDCT_US_2016_03_01:155135005 SNOMEDCT_US_2016_03_01:41256004 UMLS_CUI:C0033075 disease_ontology DOID:11638 presbyopia Idiopathic tachypnea of newborn Transitory tachypnea of newborn (disorder) disease_ontology DOID:11649 transitory tachypnea of newborn true Idiopathic tachypnea of newborn MTHICD9_2006:770.6 Transitory tachypnea of newborn (disorder) SNOMEDCT_2005_07_31:7550008 DOID:11651 Bronchopulmonary dysplasia of newborn (disorder) Perinatal bronchopulmonary dysplasia neonatal chronic respiratory disease disease_ontology DOID:11650 bronchopulmonary dysplasia true Bronchopulmonary dysplasia of newborn (disorder) SNOMEDCT_2005_07_31:67569000 Perinatal bronchopulmonary dysplasia MTHICD9_2006:770.7 ICD10CM:H11.11 ICD9CM:372.56 SNOMEDCT_US_2016_03_01:62660000 UMLS_CUI:C0162280 disease_ontology DOID:11653 conjunctival deposit Naevus fuscocerulophthalmomaxillaris Naevus fusoceruleus ophthalmomaxillaris Oculocutaneous melanocytic nevus Oculodermal malanocytosis nevus of Ota (disorder) primary acquired melanosis primary acquired melanosis of conjunctiva (disorder) disease_ontology DOID:11654 nevus of ota true Naevus fuscocerulophthalmomaxillaris SNOMEDCT_2005_07_31:414929001 Naevus fusoceruleus ophthalmomaxillaris SNOMEDCT_2005_07_31:254817005 Oculocutaneous melanocytic nevus NCI2004_11_17:C7583 Oculodermal malanocytosis SNOMEDCT_2005_07_31:27486008 nevus of Ota (disorder) SNOMEDCT_2005_07_31:254212008 primary acquired melanosis SNOMEDCT_2005_07_31:415172002 primary acquired melanosis of conjunctiva (disorder) SNOMEDCT_2005_07_31:415173007 A bullous skin disease characterized by skin lesions and scaring and located_in mucous membranes and located_in skin. DOID:11655 ICD10CM:L12.1 ICD9CM:694.6 ICD9CM:694.61 MESH:D010390 NCI:C34907 SNOMEDCT_US_2016_03_01:193905009 SNOMEDCT_US_2016_03_01:194590009 SNOMEDCT_US_2016_03_01:200913007 SNOMEDCT_US_2016_03_01:200914001 SNOMEDCT_US_2016_03_01:200915000 SNOMEDCT_US_2016_03_01:34250006 SNOMEDCT_US_2016_03_01:76092003 UMLS_CUI:C0030804 UMLS_CUI:C0157721 Cicatricial pemphigoid with ocular involvement Ocular pemphigoid benign mucous membrane pemphigoid benign mucous membrane pemphigoid with ocular involvement ocular pemphigus disease_ontology DOID:11656 cicatricial pemphigoid A bullous skin disease characterized by skin lesions and scaring and located_in mucous membranes and located_in skin. url:http://en.wikipedia.org/wiki/Cicatricial_pemphigoid url:http://www.merckmanuals.com/professional/eye_disorders/conjunctival_and_scleral_disorders/cicatricial_pemphigoid.html Cicatricial pemphigoid with ocular involvement SNOMEDCT_2005_07_31:76092003 Ocular pemphigoid SNOMEDCT_2005_07_31:193905009 SNOMEDCT_2005_07_31:194590009 SNOMEDCT_2005_07_31:200914001 SNOMEDCT_2005_07_31:34250006 benign mucous membrane pemphigoid with ocular involvement ICD9CM_2006:694.61 A syndrome that involves sudden and rapidly developing attacks of arthritis with a remission period that results_in no joint damage or symptoms. DOID:1165 DOID:1177 DOID:1178 DOID:1179 DOID:12951 DOID:13354 DOID:13355 DOID:13771 ICD10CM:M12.3 ICD10CM:M12.30 ICD9CM:719.3 ICD9CM:719.30 ICD9CM:719.31 MESH:C538103 SNOMEDCT_US_2016_03_01:202455001 SNOMEDCT_US_2016_03_01:202456000 SNOMEDCT_US_2016_03_01:202457009 SNOMEDCT_US_2016_03_01:202466008 SNOMEDCT_US_2016_03_01:50442003 UMLS_CUI:C0085574 UMLS_CUI:C0158178 Hench's syndrome Hench-Rosenberg syndrome disease_ontology DOID:1166 palindromic rheumatism A syndrome that involves sudden and rapidly developing attacks of arthritis with a remission period that results_in no joint damage or symptoms. url:http://arthritis.about.com/od/diseasesandconditions/a/palindromic.htm url:http://en.wikipedia.org/wiki/Palindromic_rheumatism url:http://www.palindromicrheumatism.org/ A color blindness that is characterised by a selective deficiency of blue vision, has_material_basis_in autosomal dominant inheritance of a mutation in the OPN1SW gene and is associated with a deficiency or absence of blue-sensitive cone photoreceptor function. ICD10CM:H53.55 ICD9CM:368.53 MESH:D003117 OMIM:190900 SNOMEDCT_US_2016_03_01:51886007 SNOMEDCT_US_2016_03_01:85049009 UMLS_CUI:C0155017 Tritan defect Tritanopia disease_ontology DOID:11661 OMIM mapping confirmed by DO. [SN]. blue color blindness A color blindness that is characterised by a selective deficiency of blue vision, has_material_basis_in autosomal dominant inheritance of a mutation in the OPN1SW gene and is associated with a deficiency or absence of blue-sensitive cone photoreceptor function. url:http://www.ncbi.nlm.nih.gov/pubmed/2788922 url:http://www.omim.org/entry/190900 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88629 Tritan defect ICD9CM_2006:368.53 Tritanopia MTHICD9_2006:368.53 disease_ontology DOID:11662 color vision defect true ICD10CM:I12 ICD10CM:N26.9 ICD9CM:587 MESH:D009400 SNOMEDCT_US_2016_03_01:194773000 SNOMEDCT_US_2016_03_01:197658002 SNOMEDCT_US_2016_03_01:197662008 SNOMEDCT_US_2016_03_01:32916005 UMLS_CUI:C0027719 renal sclerosis disease_ontology DOID:11664 nephrosclerosis renal sclerosis CSP2005:4003-0020 ICD10CM:Q91.7 ICD9CM:758.1 MESH:C536305 NCI:C101223 SNOMEDCT_US_2016_03_01:156995003 SNOMEDCT_US_2016_03_01:157021007 SNOMEDCT_US_2016_03_01:205622008 SNOMEDCT_US_2016_03_01:21111006 SNOMEDCT_US_2016_03_01:254267009 SNOMEDCT_US_2016_03_01:268344000 SNOMEDCT_US_2016_03_01:268357008 UMLS_CUI:C0152095 D1 Trisomy trisomy 13 disease_ontology Patau's syndrome DOID:11665 OMIM mapping confirmed by DO. [LS]. Patau syndrome D1 Trisomy NCI2004_11_17:C36529 Patau's syndrome ICD9CM_2006:758.1 ICD10CM:H02.73 ICD9CM:374.53 SNOMEDCT_US_2016_03_01:193958004 SNOMEDCT_US_2016_03_01:68210006 UMLS_CUI:C0155212 disease_ontology DOID:11668 hypopigmentation of eyelid ICD10CM:H02.86 ICD9CM:374.54 SNOMEDCT_US_2016_03_01:79830009 UMLS_CUI:C0155213 disease_ontology DOID:11669 hypertrichosis of eyelid ICD10CM:H02.72 ICD9CM:374.55 SNOMEDCT_US_2016_03_01:193959007 SNOMEDCT_US_2016_03_01:70738004 UMLS_CUI:C0155214 disease_ontology DOID:11671 hypotrichosis of eyelid A filariasis that involves parasitic infection caused by the nematode Onchocerca volvulus, which is transmitted to humans through the bite of a blackfly of the genus Simulium. The worms spread throughout the body and, when they die, cause intense itching and a strong immune system response that can destroy nearby tissue. The symptoms include pruritus, dermatitis, blindness, onchocercomata (subcutaneous nodules), and lymphadenopathy. ICD10CM:B73 ICD9CM:125.3 MESH:D009855 NCI:C34861 SNOMEDCT_US_2016_03_01:38539003 UMLS_CUI:C0029001 Infection by Onchocerca volvulus (disorder) Onchocerca volvulus infection volvulosis disease_ontology DOID:11678 onchocerciasis A filariasis that involves parasitic infection caused by the nematode Onchocerca volvulus, which is transmitted to humans through the bite of a blackfly of the genus Simulium. The worms spread throughout the body and, when they die, cause intense itching and a strong immune system response that can destroy nearby tissue. The symptoms include pruritus, dermatitis, blindness, onchocercomata (subcutaneous nodules), and lymphadenopathy. url:http://www.dpd.cdc.gov/dpdx/HTML/Filariasis.htm Infection by Onchocerca volvulus (disorder) SNOMEDCT_2005_07_31:38539003 Onchocerca volvulus infection MTHICD9_2006:125.3 volvulosis CSP2005:2214-3590 DOID:3147 ICD10CM:E78.5 MESH:D006949 MESH:D006951 NCI:C34707 NCI:C34709 SNOMEDCT_US_2016_03_01:154739000 SNOMEDCT_US_2016_03_01:154743001 SNOMEDCT_US_2016_03_01:190782002 SNOMEDCT_US_2016_03_01:267499005 SNOMEDCT_US_2016_03_01:3744001 SNOMEDCT_US_2016_03_01:55822004 UMLS_CUI:C0020473 UMLS_CUI:C0020476 familial hyperlipoproteinemia hyperlipemia disease_ontology hyperlipidaemia DOID:1168 familial hyperlipidemia hyperlipemia CSP2005:1744-2444 hyperlipidaemia SNOMEDCT_2005_07_31:154739000 A onchocerciasis that involves parasitic infection of the eye by the larvae of Onchocerca volvulus. The microfilariae migrate to the surface of the cornea. Punctate keratitis occurs in the infected area. In severe infection, sclerosing keratitis occurs, making the affected area become opaque leading to blindness. Ocular Onchocerciasis Ocular onchocerciasis (disorder) river blindness disease_ontology DOID:11680 ocular onchocerciasis true A onchocerciasis that involves parasitic infection of the eye by the larvae of Onchocerca volvulus. The microfilariae migrate to the surface of the cornea. Punctate keratitis occurs in the infected area. In severe infection, sclerosing keratitis occurs, making the affected area become opaque leading to blindness. url:http://en.wikipedia.org/wiki/Onchocerciasis Ocular Onchocerciasis NCI2004_11_17:C34862 Ocular onchocerciasis (disorder) SNOMEDCT_2005_07_31:240842000 river blindness CSP2005:2214-3590 Glaucoma associated with systemic syndromes (disorder) disease_ontology DOID:11683 glaucoma associated with systemic syndromes true Glaucoma associated with systemic syndromes (disorder) SNOMEDCT_2005_07_31:53667005 NCI:C27548 SNOMEDCT_US_2016_03_01:201096007 SNOMEDCT_US_2016_03_01:394727000 UMLS_CUI:C1321683 disease_ontology DOID:11684 melanoacanthoma ICD10CM:L82.0 ICD9CM:702.11 SNOMEDCT_US_2016_03_01:442348004 UMLS_CUI:C0376117 disease_ontology DOID:11685 inflamed seborrheic keratosis ICD10CM:K04.4 ICD9CM:522.4 SNOMEDCT_US_2016_03_01:109605000 SNOMEDCT_US_2016_03_01:196338001 SNOMEDCT_US_2016_03_01:88071000 UMLS_CUI:C0155934 acute apical periodontitis of pulpal origin acute apical periodontitis of pulpal origin (disorder) disease_ontology DOID:11693 acute apical periodontitis acute apical periodontitis of pulpal origin ICD9CM_2006:522.4 acute apical periodontitis of pulpal origin (disorder) SNOMEDCT_2005_07_31:88071000 A vein disease that is characterized by a blood clot that forms within the hepatic portal vein. ICD10CM:I81 ICD9CM:452 NCI:C78565 SNOMEDCT_US_2016_03_01:155455003 SNOMEDCT_US_2016_03_01:17920008 UMLS_CUI:C0155773 disease_ontology DOID:11695 portal vein thrombosis A vein disease that is characterized by a blood clot that forms within the hepatic portal vein. url:http://en.wikipedia.org/wiki/Portal_vein_thrombosis chronic hypomanic personality disorder disease_ontology DOID:11696 chronic hypomanic disorder true chronic hypomanic personality disorder ICD9CM_2006:301.11 A lymph node tuberculosis that is characterized by a peri-hilar or paratracheal lymph adenopathy after the primary infection. The diseased lymph nodes and associated inflammatory edema compress the airways resulting in partial or total airway obstruction. When a caseating lymph node erupts into an airway, aspiration of caseous material results in dense alveolar consolidation of the affected segment/lobe. Tuberculosis of intrathoracic lymph nodes (disorder) Tuberculosis of intrathoracic lymph nodes NOS (disorder) Tuberculosis of intrathoracic lymph nodes, unspecified examination disease_ontology DOID:11699 intrathoracic lymph node tuberculosis true A lymph node tuberculosis that is characterized by a peri-hilar or paratracheal lymph adenopathy after the primary infection. The diseased lymph nodes and associated inflammatory edema compress the airways resulting in partial or total airway obstruction. When a caseating lymph node erupts into an airway, aspiration of caseous material results in dense alveolar consolidation of the affected segment/lobe. url:http://ep.bmjjournals.com/cgi/reprint/91/1/ep1 Tuberculosis of intrathoracic lymph nodes (disorder) SNOMEDCT_2005_07_31:78436002 Tuberculosis of intrathoracic lymph nodes NOS (disorder) SNOMEDCT_2005_07_31:186187009 Tuberculosis of intrathoracic lymph nodes, unspecified examination ICD9CM_2006:012.10 A cardiovascular cancer located_in the heart. DOID:9918 ICD10CM:C38.0 ICD9CM:164.1 MESH:D006338 NCI:C3081 NCI:C3548 SNOMEDCT_US_2016_03_01:126730001 SNOMEDCT_US_2016_03_01:154555009 SNOMEDCT_US_2016_03_01:187886009 SNOMEDCT_US_2016_03_01:269615000 SNOMEDCT_US_2016_03_01:363435002 SNOMEDCT_US_2016_03_01:387842002 SNOMEDCT_US_2016_03_01:93825008 UMLS_CUI:C0018809 UMLS_CUI:C0153500 Cardiac tumor Tumour of heart malignant Cardiac tumor malignant neoplasm of heart disease_ontology DOID:117 heart cancer A cardiovascular cancer located_in the heart. url:http://en.wikipedia.org/wiki/Heart_cancer Cardiac tumor NCI2004_11_17:C3081 Tumour of heart SNOMEDCT_2005_07_31:126730001 malignant Cardiac tumor NCI2004_11_17:C3548 A selective immunoglobulin deficiency disease that is the result of a deficiency of immunoglobulin A (IgA), an antibody that protects against infections of the mucous membranes lining the mouth, airways, and digestive tract. MESH:D017098 SNOMEDCT_US_2016_03_01:29260007 UMLS_CUI:C0162538 Immunoglobulin A deficiency (disorder) Selective IgA Immunodeficiency Selective IgA immunodeficiency Selective immunoglobulin A deficiency (disorder) disease_ontology DOID:11701 selective IgA deficiency disease A selective immunoglobulin deficiency disease that is the result of a deficiency of immunoglobulin A (IgA), an antibody that protects against infections of the mucous membranes lining the mouth, airways, and digestive tract. url:http://en.wikipedia.org/wiki/Selective_immunoglobulin_A_deficiency Immunoglobulin A deficiency (disorder) SNOMEDCT_2005_07_31:29260007 Selective IgA Immunodeficiency NCI2004_11_17:C26964 Selective IgA immunodeficiency ICD9CM_2006:279.01 Selective immunoglobulin A deficiency (disorder) SNOMEDCT_2005_07_31:190979003 A selective immunoglobulin deficiency disease that is caused by a reduction in some types of gamma globulins. MESH:D004406 SNOMEDCT_US_2016_03_01:123782009 SNOMEDCT_US_2016_03_01:127389001 UMLS_CUI:C0013374 Dysgammaglobulinemia (disorder) Dysgammaglobulinemia (finding) disease_ontology DOID:11702 dysgammaglobulinemia A selective immunoglobulin deficiency disease that is caused by a reduction in some types of gamma globulins. url:http://en.wikipedia.org/wiki/Dysgammaglobulinemia Dysgammaglobulinemia (disorder) SNOMEDCT_2005_07_31:123782009 Dysgammaglobulinemia (finding) SNOMEDCT_2005_07_31:127389001 ICD9CM:588.8 ICD9CM:588.89 UMLS_CUI:C0029791 disease_ontology DOID:11705 impaired renal function disease MESH:D006954 NCI:C35645 OMIM:144650 SNOMEDCT_US_2016_03_01:190781009 SNOMEDCT_US_2016_03_01:34349009 UMLS_CUI:C0020481 Fredrickson type V lipaemia familial hyperlipoproteinemia type V familial type 5 hyperlipoproteinemia (disorder) disease_ontology DOID:1171 OMIM mapping confirmed by DO. [SN]. hyperlipoproteinemia type V Fredrickson type V lipaemia SNOMEDCT_2005_07_31:190781009 familial hyperlipoproteinemia type V CSP2005:1849-4520 familial type 5 hyperlipoproteinemia (disorder) SNOMEDCT_2005_07_31:34349009 Diabetes in Pregnancy Diabetes mellitus, antepartum pregnancy diabetes disease_ontology DOID:11711 Pregnancy in Diabetics true Diabetes in Pregnancy NCI2004_11_17:C34942 Diabetes mellitus, antepartum ICD9CM_2006:648.03 pregnancy diabetes CSP2005:0862-6650 A type 2 diabetes that involves severe lipodystrophy in addition to the traditional signs of diabetes. MESH:D003923 NCI:C34537 SNOMEDCT_US_2016_03_01:127012008 SNOMEDCT_US_2016_03_01:408543001 SNOMEDCT_US_2016_03_01:71325002 UMLS_CUI:C0011859 disease_ontology DOID:11712 lipoatrophic diabetes A type 2 diabetes that involves severe lipodystrophy in addition to the traditional signs of diabetes. url:http://en.wikipedia.org/wiki/Lipoatrophic_diabetes MESH:D003925 NCI:C35610 UMLS_CUI:C0011875 Diabetic vascular disorder disease_ontology DOID:11713 diabetic angiopathy Diabetic vascular disorder NCI2004_11_17:C35610 EFO:0004593 ICD10CM:O24.4 MESH:D016640 NCI:C34942 SNOMEDCT_US_2016_03_01:11687002 SNOMEDCT_US_2016_03_01:199232003 SNOMEDCT_US_2016_03_01:237629002 SNOMEDCT_US_2016_03_01:359964007 SNOMEDCT_US_2016_03_01:393568003 UMLS_CUI:C0085207 GDM Gestational diabetes mellitus Maternal gestational diabetes mellitus disease_ontology DOID:11714 gestational diabetes GDM CSP2005:0862-6650 Gestational diabetes mellitus SNOMEDCT_2005_07_31:199232003 Gestational diabetes mellitus SNOMEDCT_2005_07_31:237629002 Gestational diabetes mellitus SNOMEDCT_2005_07_31:393568003 Maternal gestational diabetes mellitus SNOMEDCT_2005_07_31:11687002 Maternal gestational diabetes mellitus SNOMEDCT_2005_07_31:359964007 ICD10CM:R73.09 MESH:D011236 NCI:C122685 SNOMEDCT_US_2016_03_01:15777000 SNOMEDCT_US_2016_03_01:714628002 SNOMEDCT_US_2016_03_01:9414007 UMLS_CUI:C0362046 Prediabetes prediabetic state disease_ontology DOID:11716 prediabetes syndrome Prediabetes SNOMEDCT_2005_07_31:15777000 Prediabetes SNOMEDCT_2005_07_31:9414007 prediabetic state CSP2005:0862-7400 ICD10CM:P70.2 ICD9CM:775.1 NCI:C99248 SNOMEDCT_US_2016_03_01:49817004 UMLS_CUI:C0158981 diabetes mellitus syndrome in newborn infant disease_ontology DOID:11717 neonatal diabetes mellitus A substance abuse that involves the recurring use of antidepressant drugs despite negative consequences. ICD9CM:305.8 UMLS_CUI:C0154540 disease_ontology DOID:11718 antidepressant type abuse A substance abuse that involves the recurring use of antidepressant drugs despite negative consequences. url:http://en.wikipedia.org/wiki/Antidepressant ICD10CM:G71.0 MESH:D039141 NCI:C84942 OMIM:164300 SNOMEDCT_US_2016_03_01:77097004 UMLS_CUI:C0270952 Muscular dystrophy, oculopharyngeal Oculopharyngeal muscular dystrophy (disorder) disease_ontology DOID:11719 OMIM mapping confirmed by DO. [SN]. oculopharyngeal muscular dystrophy Muscular dystrophy, oculopharyngeal MTHICD9_2006:359.1 Oculopharyngeal muscular dystrophy (disorder) SNOMEDCT_2005_07_31:77097004 DOID:0050527 ICD10CM:E78.1 ICD9CM:272.1 MESH:D006953 NCI:C34711 OMIM:144600 OMIM:145750 SNOMEDCT_US_2016_03_01:129589009 SNOMEDCT_US_2016_03_01:154741004 SNOMEDCT_US_2016_03_01:190779007 SNOMEDCT_US_2016_03_01:238085009 SNOMEDCT_US_2016_03_01:267433009 SNOMEDCT_US_2016_03_01:34528009 UMLS_CUI:C0020480 Endogenous hyperlipidaemia Fredrickson type IV Lipidemia Fredrickson type IV hyperlipoproteinemia (disorder) Fredrickson type IV lipidaemia VLDL hyperlipoproteinemia familial hypertriglyceridemia disease_ontology DOID:1172 OMIM mapping confirmed by DO. [SN]. hyperlipoproteinemia type IV Endogenous hyperlipidaemia SNOMEDCT_2005_07_31:129589009 Fredrickson type IV Lipidemia NCI2004_11_17:C34711 Fredrickson type IV hyperlipoproteinemia (disorder) SNOMEDCT_2005_07_31:238085009 Fredrickson type IV lipidaemia SNOMEDCT_2005_07_31:190779007 VLDL hyperlipoproteinemia MTHICD9_2006:272.1 ICD10CM:G71.0 MESH:D049310 NCI:C84675 OMIM:160300 OMIM:160500 OMIM:254130 OMIM:606768 OMIM:607569 OMIM:610099 OMIM:613318 OMIM:613319 OMIM:614065 OMIM:614321 ORDO:399086 ORDO:399096 ORDO:5448 ORDO:59135 ORDO:63273 SNOMEDCT_US_2016_03_01:58795000 UMLS_CUI:C0751336 Miyoshi muscular dystrophy distal myopathy disease_ontology DOID:11720 Xref MGI. OMIM mapping confirmed by DO. [SN]. distal muscular dystrophy ICD10CM:E74.09 MESH:D006014 NCI:C118437 OMIM:232800 SNOMEDCT_US_2016_03_01:234406005 SNOMEDCT_US_2016_03_01:89597008 UMLS_CUI:C0017926 Glycogen storage disease, type VII (disorder) Muscle phosphofructokinase deficiency (disorder) glycogen storage disease type VII phosphofructokinase myopathy disease_ontology DOID:11721 OMIM mapping confirmed by DO. [SN]. glycogen storage disease VII Glycogen storage disease, type VII (disorder) SNOMEDCT_2005_07_31:89597008 Muscle phosphofructokinase deficiency (disorder) SNOMEDCT_2005_07_31:234406005 phosphofructokinase myopathy CSP2005:1849-4121 A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_physical_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region. ICD10CM:G71.11 ICD9CM:359.21 MESH:D009223 NCI:C84914 OMIM:160900 SNOMEDCT_US_2016_03_01:155096007 SNOMEDCT_US_2016_03_01:267713009 SNOMEDCT_US_2016_03_01:77956009 UMLS_CUI:C0027126 Dystrophia myotonica Steinert disease congenital myotonic dystrophy myotonic dystrophy of Steinert disease_ontology DOID:11722 OMIM mapping confirmed by DO. [SN]. myotonic dystrophy type 1 A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_physical_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region. url:http://en.wikipedia.org/wiki/Myotonic_dystrophy url:http://ghr.nlm.nih.gov/condition/myotonic-dystrophy url:http://omim.org/entry/160900 url:http://www.genome.gov/25521207 url:http://www.ncbi.nlm.nih.gov/books/NBK1165/ Dystrophia myotonica SNOMEDCT_2005_07_31:267713009 A muscular dystrophy that has_material_basis_in X-linked disease that has material basis in mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy. MESH:D020388 NCI:C75482 OMIM:310200 SNOMEDCT_US_2016_03_01:129619006 SNOMEDCT_US_2016_03_01:155095006 SNOMEDCT_US_2016_03_01:267712004 SNOMEDCT_US_2016_03_01:387732009 SNOMEDCT_US_2016_03_01:76670001 UMLS_CUI:C0013264 Muscular dystrophy, Duchenne disease_ontology DOID:11723 OMIM mapping confirmed by DO. [SN]. Duchenne muscular dystrophy A muscular dystrophy that has_material_basis_in X-linked disease that has material basis in mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy. url:http://en.wikipedia.org/wiki/Duchenne_muscular_dystrophy url:http://omim.org/entry/300377 url:http://www.genome.gov/19518854 Muscular dystrophy, Duchenne MTHICD9_2006:359.1 A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles. ICD10CM:G71.0 MESH:D049288 NCI:C84828 ORDO:263 SNOMEDCT_US_2016_03_01:56096001 SNOMEDCT_US_2016_03_01:93153005 UMLS_CUI:C0686353 Erb's muscular dystrophy Leyden-Mbius muscular dystrophy limb girdle muscular dystrophy disease_ontology DOID:11724 Xref MGI. OMIM mapping confirmed by DO. [SN]. limb-girdle muscular dystrophy A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles. url:http://en.wikipedia.org/wiki/Limb-girdle_muscular_dystrophy url:http://ghr.nlm.nih.gov/condition/limb-girdle-muscular-dystrophy url:http://www.ncbi.nlm.nih.gov/books/NBK1408/ Leyden-Mbius muscular dystrophy SNOMEDCT_2005_07_31:93153005 limb girdle muscular dystrophy CSP2005:1849-6662 A genetic disease that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features. ICD10CM:Q87.1 MESH:D003635 NCI:C75016 OMIM:122470 OMIM:300590 OMIM:300882 OMIM:610759 OMIM:614701 ORDO:199 SNOMEDCT_US_2016_03_01:40354009 UMLS_CUI:C0270972 Brachmann de Lange syndrome De Lange syndrome disease_ontology DOID:11725 Xref MGI. OMIM mapping confirmed by DO. [SN]. Cornelia de Lange syndrome A genetic disease that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features. url:http://en.wikipedia.org/wiki/Cornelia_de_Lange_Syndrome url:http://ghr.nlm.nih.gov/condition/cornelia-de-lange-syndrome url:http://www.omim.org/entry/122470 url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/30/viewAbstract Brachmann de Lange syndrome CSP2005:2403-8925 A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle. MESH:D020389 NCI:C84685 OMIM:181350 OMIM:300696 OMIM:310300 OMIM:612998 OMIM:612999 OMIM:614302 ORDO:261 ORDO:98853 ORDO:98855 ORDO:98863 SNOMEDCT_US_2016_03_01:111508004 SNOMEDCT_US_2016_03_01:129620000 SNOMEDCT_US_2016_03_01:193233004 UMLS_CUI:C0410189 EDMD disease_ontology DOID:11726 Xref MGI. OMIM mapping confirmed by DO. [SN]. Emery-Dreifuss muscular dystrophy A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle. url:http://en.wikipedia.org/wiki/Emery%E2%80%93Dreifuss_muscular_dystrophy url:http://ghr.nlm.nih.gov/condition/emery-dreifuss-muscular-dystrophy ICD10CM:G71.0 MESH:D020391 NCI:C84704 OMIM:158900 OMIM:158901 SNOMEDCT_US_2016_03_01:399091004 SNOMEDCT_US_2016_03_01:56096001 UMLS_CUI:C0238288 Landouzy Dejerine muscular dystrophy Landouzy-Dejerine muscular dystrophy Muscular dystrophy, Landouzy-Dejerine disease_ontology DOID:11727 OMIM mapping confirmed by DO. [SN]. facioscapulohumeral muscular dystrophy Landouzy Dejerine muscular dystrophy CSP2005:1849-6662 Landouzy-Dejerine muscular dystrophy SNOMEDCT_2005_07_31:399091004 Landouzy-Dejerine muscular dystrophy SNOMEDCT_2005_07_31:56096001 Muscular dystrophy, Landouzy-Dejerine MTHICD9_2006:359.1 A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia burgdorferi, which is transmitted_by blacklegged tick (Ixodes scapularis) or transmitted_by western blacklegged tick (Ixodes pacificus). The infection has_symptom fever, has_symptom headache, has_symptom fatigue, and has_symptom skin rash called erythema migrans. If left untreated, infection can spread to joints, the heart, and the nervous system. DOID:12233 ICD10CM:A69.2 ICD10CM:A69.20 ICD9CM:088.81 MESH:D008193 MESH:D020852 NCI:C45161 SNOMEDCT_US_2016_03_01:154376000 SNOMEDCT_US_2016_03_01:23502006 SNOMEDCT_US_2016_03_01:240672009 SNOMEDCT_US_2016_03_01:48982009 UMLS_CUI:C0024198 UMLS_CUI:C0752235 Bannwarth syndrome (disorder) Bannworth's syndrome Lyme borreliosis Neurological Lyme disease lyme neuroborreliosis neuroborreliosis disease_ontology DOID:11729 Lyme disease A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia burgdorferi, which is transmitted_by blacklegged tick (Ixodes scapularis) or transmitted_by western blacklegged tick (Ixodes pacificus). The infection has_symptom fever, has_symptom headache, has_symptom fatigue, and has_symptom skin rash called erythema migrans. If left untreated, infection can spread to joints, the heart, and the nervous system. url:http://www.cdc.gov/lyme/transmission/index.html Bannwarth syndrome (disorder) SNOMEDCT_2005_07_31:48982009 Bannworth's syndrome SNOMEDCT_2005_07_31:23502006 Lyme borreliosis CSP2005:0368-3340 Neurological Lyme disease SNOMEDCT_2005_07_31:240672009 (Congenital cystic liver disease) or (congenital hepatic cyst) Congenital cystic disease of liver Congenital cystic disease of liver (disorder) Congenital cystic liver disease (disorder) Congenital cystic liver disease NOS (disorder) Fibrocystic disease of liver Fibrocystic liver disease disease_ontology DOID:1173 polycystic liver disease true (Congenital cystic liver disease) or (congenital hepatic cyst) SNOMEDCT_2005_07_31:204784005 Congenital cystic disease of liver ICD9CM_2006:751.62 Congenital cystic disease of liver (disorder) SNOMEDCT_2005_07_31:72925005 Congenital cystic liver disease (disorder) SNOMEDCT_2005_07_31:268214000 Congenital cystic liver disease NOS (disorder) SNOMEDCT_2005_07_31:204786007 Fibrocystic disease of liver MTHICD9_2006:751.62 Fibrocystic liver disease SNOMEDCT_2005_07_31:204785006 Borreliosis (disorder) Borreliosis, NOS borreliosis disease_ontology DOID:11730 Borrelia infectious disease true Borreliosis (disorder) SNOMEDCT_2005_07_31:240668005 Borreliosis, NOS SNOMEDCT_2005_07_31:46107006 borreliosis CSP2005:0368-3338 Syphilitic myocarditis (disorder) disease_ontology DOID:11732 syphilitic myocarditis true Syphilitic myocarditis (disorder) SNOMEDCT_2005_07_31:4082005 Aneurysm of aorta, specified as syphilitic Syphilitic aneurysm of aorta (disorder) disease_ontology DOID:11733 syphilitic aortic aneurysm true Aneurysm of aorta, specified as syphilitic ICD9CM_2006:093.0 Syphilitic aneurysm of aorta (disorder) SNOMEDCT_2005_07_31:12232008 Syphilitic pericarditis (disorder) disease_ontology DOID:11734 syphilitic pericarditis true Syphilitic pericarditis (disorder) SNOMEDCT_2005_07_31:3589003 Manic disorder, single episode, in full remission Single manic episode in full remission (disorder) disease_ontology DOID:11735 single manic episode in full remission true Manic disorder, single episode, in full remission ICD9CM_2006:296.06 Single manic episode in full remission (disorder) SNOMEDCT_2005_07_31:191588009 ICD9CM:521.05 SNOMEDCT_US_2016_03_01:196305005 UMLS_CUI:C0341004 disease_ontology DOID:11736 odontoclasia A Chlamydophila infectious disease that involves Chlamydophila pneumoniae infection, characterized by interstitial infiltrates and respiratory distress. Chlamydial pneumonia (disorder) Pneumonia due to Chlamydia disease_ontology DOID:11741 Chlamydophila pneumoniae pneumonia true A Chlamydophila infectious disease that involves Chlamydophila pneumoniae infection, characterized by interstitial infiltrates and respiratory distress. url:http://en.wikipedia.org/wiki/Pneumonia url:http://www.cdc.gov/ncidod/dbmd/diseaseinfo/chlamydiapneumonia_t.htm url:http://www.merck.com/mmpe/sec19/ch279/ch279l.html Chlamydial pneumonia (disorder) SNOMEDCT_2005_07_31:233609002 Pneumonia due to Chlamydia ICD9CM_2006:483.1 ICD10CM:C57.3 ICD9CM:183.4 SNOMEDCT_US_2016_03_01:188203006 SNOMEDCT_US_2016_03_01:448674007 SNOMEDCT_US_2016_03_01:93942003 UMLS_CUI:C0153581 disease_ontology DOID:11746 parametrium malignant neoplasm DOID:9596 ICD10CM:C57.4 ICD9CM:183 ICD9CM:183.9 SNOMEDCT_US_2016_03_01:154527005 SNOMEDCT_US_2016_03_01:188201008 SNOMEDCT_US_2016_03_01:188206003 SNOMEDCT_US_2016_03_01:190123001 SNOMEDCT_US_2016_03_01:269601002 SNOMEDCT_US_2016_03_01:428322007 SNOMEDCT_US_2016_03_01:94126000 UMLS_CUI:C0153577 UMLS_CUI:C0153584 disease_ontology DOID:11747 uterine adnexa cancer ICD10CM:C57.2 ICD9CM:183.5 SNOMEDCT_US_2016_03_01:188204000 SNOMEDCT_US_2016_03_01:93994001 UMLS_CUI:C0346867 malignant neoplasm of round ligament (disorder) malignant neoplasm of round ligament of uterus disease_ontology DOID:11748 round ligament malignant neoplasm malignant neoplasm of round ligament (disorder) SNOMEDCT_2005_07_31:188204000 malignant neoplasm of round ligament of uterus ICD9CM_2006:183.5 malignant neoplasm of round ligament of uterus SNOMEDCT_2005_07_31:93994001 A pertussis that is a milder disease caused by the bacterium Bordetella parapertussis. The disease has_symptom coughing, has_symptom sneezing, or has_symptom runny nose . ICD10CM:A37.1 ICD9CM:033.1 SNOMEDCT_US_2016_03_01:77116006 UMLS_CUI:C0275742 disease_ontology DOID:11750 Bordetella parapertussis whooping cough A pertussis that is a milder disease caused by the bacterium Bordetella parapertussis. The disease has_symptom coughing, has_symptom sneezing, or has_symptom runny nose . url:http://en.wikipedia.org/wiki/Pertussis ICD9CM:360.01 SNOMEDCT_US_2016_03_01:1493002 SNOMEDCT_US_2016_03_01:193268004 UMLS_CUI:C0154773 disease_ontology DOID:11752 acute endophthalmitis disease_ontology DOID:11753 biliary calculus with acute cholecystitis true ICD10CM:H44.32 ICD9CM:360.23 SNOMEDCT_US_2016_03_01:25277000 UMLS_CUI:C0271001 Siderosis of globe disease_ontology DOID:11754 siderosis of eye Siderosis of globe ICD9CM_2006:360.23 MESH:D042883 SNOMEDCT_US_2016_03_01:197376000 SNOMEDCT_US_2016_03_01:197397004 SNOMEDCT_US_2016_03_01:49910001 UMLS_CUI:C0701818 disease_ontology DOID:11755 choledocholithiasis DOID:13666 bile duct calculus with acute cholecystitis and obstruction bile duct calculus with acute cholecystitis and obstruction (disorder) bile duct calculus with acute cholecystitis and obstruction NOS (disorder) calculus of bile duct with acute cholecystitis with obstruction (disorder) calculus of bile duct with acute cholecystitis, with obstruction disease_ontology DOID:11756 calculus of bile duct with acute cholecystitis true bile duct calculus with acute cholecystitis and obstruction (disorder) SNOMEDCT_2005_07_31:197391003 bile duct calculus with acute cholecystitis and obstruction NOS (disorder) SNOMEDCT_2005_07_31:197392005 calculus of bile duct with acute cholecystitis with obstruction (disorder) SNOMEDCT_2005_07_31:43479009 calculus of bile duct with acute cholecystitis, with obstruction ICD9CM_2006:574.31 ICD9CM:280.8 SNOMEDCT_US_2016_03_01:191129007 SNOMEDCT_US_2016_03_01:191131003 SNOMEDCT_US_2016_03_01:267514001 UMLS_CUI:C0029810 disease_ontology DOID:11758 iron deficiency anemia ICD10CM:D50 MESH:D000747 NCI:C34380 SNOMEDCT_US_2016_03_01:44452003 UMLS_CUI:C0002884 ANEMIA HYPOCHROMIC disease_ontology DOID:11759 hypochromic anemia ANEMIA HYPOCHROMIC MTH:NOCODE A lower respiratory tract disease that affects the airways leading into the lungs, which is caused due to inflammation of the bronchi and bronchioles, infection, or blockage. DOID:1175 DOID:12322 MESH:D001982 SNOMEDCT_US_2016_03_01:41427001 UMLS_CUI:C0006261 Bronchospasm disease_ontology DOID:1176 bronchial disease A lower respiratory tract disease that affects the airways leading into the lungs, which is caused due to inflammation of the bronchi and bronchioles, infection, or blockage. url:http://www.ncbi.nlm.nih.gov/pubmed/11685087 Bronchospasm NCI2004_11_17:C34439 SNOMEDCT_2005_07_31:140179000 SNOMEDCT_2005_07_31:196175000 SNOMEDCT_2005_07_31:269012003 An osteochondrosis that results_in death and collapse located_in navicular bone of foot. ICD9CM:732.5 SNOMEDCT_US_2016_03_01:203392007 SNOMEDCT_US_2016_03_01:203393002 SNOMEDCT_US_2016_03_01:203397001 SNOMEDCT_US_2016_03_01:32491009 UMLS_CUI:C0158444 Juvenile osteochondrosis of foot Kohler disease disease_ontology DOID:11760 Kohler's disease An osteochondrosis that results_in death and collapse located_in navicular bone of foot. url:http://en.wikipedia.org/wiki/K%C3%B6hler_disease url:http://www.medcyclopaedia.com/library/topics/volume_iii_1/k/kohlers_disease.aspx Juvenile osteochondrosis of foot ICD9CM_2006:732.5 ICD9CM:360.41 SNOMEDCT_US_2016_03_01:193291000 SNOMEDCT_US_2016_03_01:23360000 SNOMEDCT_US_2016_03_01:4229009 UMLS_CUI:C0154788 disease_ontology DOID:11766 blind hypotensive eye testicular hyperfunction testicular hyperfunction (disorder) disease_ontology DOID:11770 hypersecretion of testicular hormones true testicular hyperfunction ICD9CM_2006:257.0 testicular hyperfunction (disorder) SNOMEDCT_2005_07_31:29206004 ICD10CM:H55.03 ICD9CM:379.53 MESH:D009759 SNOMEDCT_US_2016_03_01:246784009 SNOMEDCT_US_2016_03_01:39771000 SNOMEDCT_US_2016_03_01:45339001 UMLS_CUI:C0271384 Ocular nystagmus Searching eye movements visual deprivation nystagmus visual deprivation nystagmus (disorder) disease_ontology DOID:11771 spontaneous ocular nystagmus Ocular nystagmus SNOMEDCT_2005_07_31:39771000 Searching eye movements SNOMEDCT_2005_07_31:246784009 visual deprivation nystagmus ICD9CM_2006:379.53 visual deprivation nystagmus (disorder) SNOMEDCT_2005_07_31:45339001 ICD10CM:H44.53 ICD9CM:360.44 SNOMEDCT_US_2016_03_01:1361009 SNOMEDCT_US_2016_03_01:193288000 UMLS_CUI:C0152458 Leucocoria disease_ontology DOID:11772 leukocoria Leucocoria ICD9CM_2006:360.44 Hereditary edema of legs Hereditary edema of legs NOS (disorder) Hereditary edema of legs [dup] (disorder) Hereditary trophedema (disorder) Hereditary trophoedeme disease_ontology DOID:11775 hereditary trophedema true Hereditary edema of legs ICD9CM_2006:757.0 Hereditary edema of legs NOS (disorder) SNOMEDCT_2005_07_31:205546005 Hereditary edema of legs [dup] (disorder) SNOMEDCT_2005_07_31:205542007 Hereditary trophedema (disorder) SNOMEDCT_2005_07_31:205543002 Hereditary trophoedeme SNOMEDCT_2005_07_31:75127007 ICD9CM:360.42 SNOMEDCT_US_2016_03_01:193286001 SNOMEDCT_US_2016_03_01:264008 UMLS_CUI:C0154789 disease_ontology DOID:11776 blind hypertensive eye ICD10CM:H52.22 ICD9CM:367.21 SNOMEDCT_US_2016_03_01:68905002 UMLS_CUI:C0152193 disease_ontology DOID:11781 regular astigmatism A refractive error characterized by the optics of the eye to focus a point object into a sharp focused image on the retina, has_symptom blurred vision. CSP:1116-1831 EFO:0004222 HP:0000483 ICD10CM:H52.2 ICD10CM:H52.20 ICD9CM:367.2 ICD9CM:367.20 MESH:D001251 OMIM:603047 SNOMEDCT_US_2016_03_01:155134009 SNOMEDCT_US_2016_03_01:193626006 SNOMEDCT_US_2016_03_01:193627002 SNOMEDCT_US_2016_03_01:82649003 UMLS_CUI:C0004106 disease_ontology DOID:11782 OMIM mapping confirmed by DO. [SN]. astigmatism A refractive error characterized by the optics of the eye to focus a point object into a sharp focused image on the retina, has_symptom blurred vision. url:http://en.wikipedia.org/wiki/Astigmatism_%28eye%29 ICD9CM:385.24 UMLS_CUI:C0155488 partial loss or necrosis of ear ossicles disease_ontology DOID:11783 necrosis of ear ossicle ICD9CM:289.52 UMLS_CUI:C1260402 disease_ontology DOID:11786 splenic sequestration ICD10CM:D73.2 ICD9CM:289.51 SNOMEDCT_US_2016_03_01:191382009 UMLS_CUI:C0398661 chronic congestive splenomegaly (disorder) disease_ontology DOID:11787 chronic congestive splenomegaly chronic congestive splenomegaly (disorder) SNOMEDCT_2005_07_31:191382009 ICD9CM:371.05 SNOMEDCT_US_2016_03_01:193801004 SNOMEDCT_US_2016_03_01:28143002 UMLS_CUI:C0155102 disease_ontology DOID:11793 phthisical cornea A laryngitis in which symptoms last longer than three weeks. Gastroesophageal reflux, and lingering bronchitis can cause the disease. ICD10CM:J37.0 ICD9CM:476.0 NCI:C26975 SNOMEDCT_US_2016_03_01:155535001 SNOMEDCT_US_2016_03_01:195815004 SNOMEDCT_US_2016_03_01:195816003 SNOMEDCT_US_2016_03_01:29951006 UMLS_CUI:C0155836 disease_ontology DOID:11797 chronic laryngitis A laryngitis in which symptoms last longer than three weeks. Gastroesophageal reflux, and lingering bronchitis can cause the disease. url:http://en.wikipedia.org/wiki/Laryngitis url:http://www.merck.com/mmhe/sec19/ch222/ch222d.html#sec19-ch222-ch222d-263 A pericardium disease that is characterized by an abnormal accumulation of fluid in the pericardial cavity. MESH:D010490 NCI:C3319 SNOMEDCT_US_2016_03_01:373945007 SNOMEDCT_US_2016_03_01:70370001 UMLS_CUI:C0031039 disease_ontology DOID:118 pericardial effusion A pericardium disease that is characterized by an abnormal accumulation of fluid in the pericardial cavity. url:http://en.wikipedia.org/wiki/Pericardial_effusion ICD10CM:E46 ICD9CM:263.9 MESH:D011502 NCI:C34952 SNOMEDCT_US_2016_03_01:190608007 SNOMEDCT_US_2016_03_01:238107002 SNOMEDCT_US_2016_03_01:267411007 SNOMEDCT_US_2016_03_01:72608005 UMLS_CUI:C0033677 disease_ontology DOID:11801 protein-energy malnutrition protein deficiency disease_ontology DOID:11802 protein deficiency true protein deficiency CSP2005:2116-8149 Macrodactylia Macrodactylia (fingers) Macrodactylia of fingers (disorder) disease_ontology DOID:11806 macrodactylia of fingers true Macrodactylia MTHICD9_2006:755.57 Macrodactylia (fingers) ICD9CM_2006:755.57 Macrodactylia of fingers (disorder) SNOMEDCT_2005_07_31:69381005 ICD10CM:C67.5 ICD9CM:188.5 SNOMEDCT_US_2016_03_01:188244007 SNOMEDCT_US_2016_03_01:94124002 UMLS_CUI:C0153613 malignant neoplasm of urinary bladder neck malignant tumor of bladder neck (disorder) disease_ontology DOID:11809 bladder neck cancer malignant neoplasm of urinary bladder neck SNOMEDCT_2005_07_31:94124002 malignant tumor of bladder neck (disorder) SNOMEDCT_2005_07_31:188244007 metastatic tumor to the urinary bladder secondary malignant neoplasm of bladder (disorder) disease_ontology DOID:11810 metastatic neoplasm to the bladder true metastatic tumor to the urinary bladder NCI2004_11_17:C7650 secondary malignant neoplasm of bladder (disorder) SNOMEDCT_2005_07_31:94186002 ICD10CM:C67.4 ICD9CM:188.4 SNOMEDCT_US_2016_03_01:188243001 SNOMEDCT_US_2016_03_01:93972009 UMLS_CUI:C0153612 malignant neoplasm of posterior wall of urinary bladder (disorder) disease_ontology DOID:11811 urinary bladder posterior wall cancer malignant neoplasm of posterior wall of urinary bladder (disorder) SNOMEDCT_2005_07_31:188243001 A sarcoma and malignant neoplasm of urinary bladder that is located_in the bladder. NCI:C4669 SNOMEDCT_US_2016_03_01:278046008 UMLS_CUI:C0349666 sarcoma of bladder (disorder) sarcoma of the urinary bladder disease_ontology DOID:11812 bladder sarcoma A sarcoma and malignant neoplasm of urinary bladder that is located_in the bladder. url:http://emedicine.medscape.com/article/438262-overview sarcoma of bladder (disorder) SNOMEDCT_2005_07_31:278046008 sarcoma of the urinary bladder NCI2004_11_17:C4669 ICD10CM:C67.0 ICD9CM:188.0 SNOMEDCT_US_2016_03_01:188239000 SNOMEDCT_US_2016_03_01:254931006 SNOMEDCT_US_2016_03_01:94109006 UMLS_CUI:C0496826 malignant neoplasm of trigone of urinary bladder malignant tumor of trigone of bladder (disorder) malignant tumor of trigone of urinary bladder (disorder) disease_ontology DOID:11813 bladder trigone cancer malignant neoplasm of trigone of urinary bladder ICD9CM_2006:188.0 malignant neoplasm of trigone of urinary bladder SNOMEDCT_2005_07_31:94109006 malignant tumor of trigone of bladder (disorder) SNOMEDCT_2005_07_31:254931006 malignant tumor of trigone of urinary bladder (disorder) SNOMEDCT_2005_07_31:188239000 ICD10CM:C67.3 ICD9CM:188.3 SNOMEDCT_US_2016_03_01:188242006 SNOMEDCT_US_2016_03_01:93675008 UMLS_CUI:C0153611 malignant neoplasm of anterior wall of urinary bladder (disorder) disease_ontology DOID:11814 urinary bladder anterior wall cancer malignant neoplasm of anterior wall of urinary bladder (disorder) SNOMEDCT_2005_07_31:188242006 disease_ontology DOID:11815 recurrent malignant bladder neoplasm true ICD10CM:H43.81 ICD9CM:379.21 SNOMEDCT_US_2016_03_01:247090008 SNOMEDCT_US_2016_03_01:60189009 UMLS_CUI:C0155366 Vitreous degeneration disease_ontology DOID:11816 vitreous syneresis Vitreous degeneration ICD9CM_2006:379.21 ICD10CM:C67.7 ICD9CM:188.7 SNOMEDCT_US_2016_03_01:363456000 SNOMEDCT_US_2016_03_01:94120006 UMLS_CUI:C0153615 malignant tumor of urachus (disorder) disease_ontology DOID:11817 urachus cancer malignant tumor of urachus (disorder) SNOMEDCT_2005_07_31:363456000 ICD10CM:C67.6 ICD9CM:188.6 NCI:C12337 SNOMEDCT_US_2016_03_01:188245008 SNOMEDCT_US_2016_03_01:94122003 UMLS_CUI:C0153614 Orifice of the Ureter malignant neoplasm of ureteric orifice of urinary bladder malignant tumor of ureteric orifice (disorder) disease_ontology DOID:11818 ureteric orifice cancer Orifice of the Ureter NCI2004_11_17:C12337 malignant neoplasm of ureteric orifice of urinary bladder SNOMEDCT_2005_07_31:94122003 malignant tumor of ureteric orifice (disorder) SNOMEDCT_2005_07_31:188245008 A urinary system cancer that is located_in the ureter. ICD10CM:C66 ICD9CM:189.2 MESH:D014516 NCI:C7543 OMIM:191600 SNOMEDCT_US_2016_03_01:154543003 SNOMEDCT_US_2016_03_01:363458004 SNOMEDCT_US_2016_03_01:94121005 UMLS_CUI:C0153619 malignant tumour of ureter malignant ureteral tumor disease_ontology DOID:11819 OMIM mapping confirmed by DO. [SN]. ureter cancer A urinary system cancer that is located_in the ureter. url:http://en.wikipedia.org/wiki/Ureter_cancer malignant tumour of ureter SNOMEDCT_2005_07_31:154543003 malignant ureteral tumor NCI2004_11_17:C7543 ICD10CM:C67.1 ICD9CM:188.1 NCI:C12332 SNOMEDCT_US_2016_03_01:188240003 SNOMEDCT_US_2016_03_01:93678005 UMLS_CUI:C0496827 Superior Surface of bladder malignant neoplasm of apex of urinary bladder malignant neoplasm of dome of urinary bladder malignant tumor of vault of bladder (disorder) disease_ontology DOID:11820 bladder dome cancer Superior Surface of bladder NCI2004_11_17:C12332 malignant neoplasm of apex of urinary bladder SNOMEDCT_2005_07_31:93678005 malignant neoplasm of dome of urinary bladder ICD9CM_2006:188.1 malignant tumor of vault of bladder (disorder) SNOMEDCT_2005_07_31:188240003 NCI:C6164 UMLS_CUI:C1332561 Lymphoma of the urinary bladder disease_ontology DOID:11821 bladder lymphoma Lymphoma of the urinary bladder NCI2004_11_17:C6164 ICD10CM:K76.7 ICD9CM:572.4 MESH:D006530 NCI:C113400 SNOMEDCT_US_2016_03_01:51292008 UMLS_CUI:C0019212 disease_ontology DOID:11823 hepatorenal syndrome A syndrome that is characterized by papulonodular skin lesions containing a proliferation of true macrophages associated with arthritis. ICD10CM:E78.81 NCI:C27896 ORDO:139436 SNOMEDCT_US_2016_03_01:190801003 SNOMEDCT_US_2016_03_01:84241008 UMLS_CUI:C0311284 Lipoid dermatoarthritis Multicentric reticulohistiocytosis disease_ontology DOID:11824 multicentric reticulohistiocytosis A syndrome that is characterized by papulonodular skin lesions containing a proliferation of true macrophages associated with arthritis. url:http://en.wikipedia.org/wiki/Multicentric_reticulohistiocytosis url:http://www.ncbi.nlm.nih.gov/pubmed/23130232 Lipoid dermatoarthritis SNOMEDCT_2005_07_31:84241008 Multicentric reticulohistiocytosis SNOMEDCT_2005_07_31:190801003 disease_ontology DOID:11828 visual cortex disorder due to vascular disorder true EFO:0004207 ICD10CM:H44.2 ICD9CM:360.21 MESH:D047728 SNOMEDCT_US_2016_03_01:193276002 SNOMEDCT_US_2016_03_01:193278001 SNOMEDCT_US_2016_03_01:193625005 SNOMEDCT_US_2016_03_01:32022003 UMLS_CUI:C0154778 degenerative progressive high myopia pathological myopia progressive high (degenerative) myopia progressive high myopia disease_ontology DOID:11829 degenerative myopia degenerative progressive high myopia SNOMEDCT_2005_07_31:32022003 progressive high (degenerative) myopia ICD9CM_2006:360.21 progressive high myopia MTHICD9_2006:360.21 Nephrotic syndrome with lesion of membranoproliferative glomerulonephritis disease_ontology DOID:1183 nephrotic syndrome with lesion of membranoproliferative glomerulonephritis true Nephrotic syndrome with lesion of membranoproliferative glomerulonephritis ICD9CM_2006:581.2 A refractive error characterized by the inability to see farther objects clearly. EFO:0003927 ICD10CM:H52.1 ICD9CM:367.1 MESH:D009216 NCI:C102533 OMIM:160700 OMIM:255500 OMIM:300613 OMIM:310460 OMIM:603221 OMIM:608367 OMIM:608474 OMIM:608908 OMIM:609256 OMIM:609257 OMIM:609258 OMIM:609259 OMIM:609994 OMIM:609995 OMIM:610320 OMIM:612554 OMIM:612717 OMIM:613959 OMIM:613969 OMIM:614166 OMIM:614167 OMIM:615420 OMIM:615431 OMIM:615946 SNOMEDCT_US_2016_03_01:155133003 SNOMEDCT_US_2016_03_01:57190000 UMLS_CUI:C0027092 near vision near-sightedness short-sightedness disease_ontology DOID:11830 Xref MGI. myopia A refractive error characterized by the inability to see farther objects clearly. url:http://en.wikipedia.org/wiki/Myopia url:http://ghr.nlm.nih.gov/glossary=myopia url:http://www.mayoclinic.org/diseases-conditions/nearsightedness/basics/definition/con-20027548 near vision CSP2005:1116-2455 near-sightedness MTHICD9_2006:367.1 ICD10CM:H47.61 ICD9CM:377.75 MESH:D019575 NCI:C118707 SNOMEDCT_US_2016_03_01:68574006 UMLS_CUI:C0155320 disease_ontology DOID:11831 cortical blindness MESH:D012640 NCI:C3980 SNOMEDCT_US_2016_03_01:39194005 UMLS_CUI:C0270824 epilepsy, visual disease_ontology DOID:11832 visual epilepsy epilepsy, visual MTHICD9_2006:345.5 A bone development disease where one or both are inclined inwards, axially rotated outwards, and pointing downwards with concomitant soft tissue abnormalities. DOID:0001874 ICD10CM:Q66.0 ICD10CM:Q66.89 ICD9CM:754.51 MESH:D003025 NCI:C84641 OMIM:119800 SNOMEDCT_US_2016_03_01:15169008 SNOMEDCT_US_2016_03_01:156985005 SNOMEDCT_US_2016_03_01:156987002 SNOMEDCT_US_2016_03_01:205089003 SNOMEDCT_US_2016_03_01:249808002 SNOMEDCT_US_2016_03_01:253957000 SNOMEDCT_US_2016_03_01:268340009 SNOMEDCT_US_2016_03_01:268341008 SNOMEDCT_US_2016_03_01:33163000 SNOMEDCT_US_2016_03_01:397932003 UMLS_CUI:C0009081 Congenital equinovarus Equinovarus deformity of foot (finding) congenital clubfoot congenital talipes equinovarus disease_ontology DOID:11836 OMIM mapping confirmed by DO. [SN]. clubfoot A bone development disease where one or both are inclined inwards, axially rotated outwards, and pointing downwards with concomitant soft tissue abnormalities. url:http://en.wikipedia.org/wiki/Club_foot url:http://www.ncbi.nlm.nih.gov/pubmed/?term=17610748 Congenital equinovarus MTHICD9_2006:754.51 Equinovarus deformity of foot (finding) SNOMEDCT_2005_07_31:249808002 disease_ontology DOID:11837 malignant neoplasm of scapula and long bones of upper limb true A sarcoma and malignant neoplasm of penis that is located_in the penis. NCI:C7730 UMLS_CUI:C0238352 sarcoma of penis disease_ontology DOID:11838 penis sarcoma A sarcoma and malignant neoplasm of penis that is located_in the penis. url:http://www.searchmedica.com/search.html?q=sarcoma%20of%20the%20penis&c=pc&ss= sarcoma of penis NCI2004_11_17:C7730 ICD10CM:C60.1 ICD9CM:187.2 SNOMEDCT_US_2016_03_01:363451005 SNOMEDCT_US_2016_03_01:93813005 UMLS_CUI:C0153599 malignant neoplasm of glans penis malignant tumor of glans penis (disorder) malignant tumour of glans penis disease_ontology DOID:11839 glans penis cancer malignant neoplasm of glans penis ICD9CM_2006:187.2 malignant tumor of glans penis (disorder) SNOMEDCT_2005_07_31:363451005 malignant tumour of glans penis SNOMEDCT_2005_07_31:93813005 ICD10CM:N04 ICD9CM:581 MESH:D009404 NCI:C34845 OMIM:256300 OMIM:256370 OMIM:600995 OMIM:610725 OMIM:614196 OMIM:614199 OMIM:615008 OMIM:615244 OMIM:615573 OMIM:615861 SNOMEDCT_US_2016_03_01:155851004 SNOMEDCT_US_2016_03_01:197611005 SNOMEDCT_US_2016_03_01:52254009 UMLS_CUI:C0027726 finnish congenital nephrosis disease_ontology DOID:1184 Xref MGI. nephrotic syndrome MESH:D003329 NCI:C34515 SNOMEDCT_US_2016_03_01:23687008 UMLS_CUI:C0010073 Coronary Vasospasm Coronary artery spasm (disorder) disease_ontology DOID:11840 coronary artery vasospasm Coronary Vasospasm NCI2004_11_17:C34515 Coronary artery spasm (disorder) SNOMEDCT_2005_07_31:23687008 ICD9CM:746.85 SNOMEDCT_US_2016_03_01:204373000 SNOMEDCT_US_2016_03_01:204380003 SNOMEDCT_US_2016_03_01:28574005 SNOMEDCT_US_2016_03_01:361215006 UMLS_CUI:C0158623 Congenital anomaly of coronary artery (disorder) Coronary artery abnormality (disorder) Coronary artery abnormality [Ambiguous] Coronary artery anomaly NOS (disorder) Coronary artery anomaly, congenital disease_ontology DOID:11843 coronary artery anomaly Congenital anomaly of coronary artery (disorder) SNOMEDCT_2005_07_31:28574005 Coronary artery abnormality (disorder) SNOMEDCT_2005_07_31:361215006 Coronary artery abnormality [Ambiguous] SNOMEDCT_2005_07_31:204373000 Coronary artery anomaly NOS (disorder) SNOMEDCT_2005_07_31:204380003 Coronary artery anomaly, congenital ICD9CM_2006:746.85 ICD10CM:I21 ICD10CM:I22 MESH:D003328 SNOMEDCT_US_2016_03_01:155304006 SNOMEDCT_US_2016_03_01:194796000 SNOMEDCT_US_2016_03_01:266288001 SNOMEDCT_US_2016_03_01:398274000 SNOMEDCT_US_2016_03_01:66514008 UMLS_CUI:C0010072 Coronary artery thrombosis (disorder) disease_ontology DOID:11847 coronary thrombosis Coronary artery thrombosis (disorder) SNOMEDCT_2005_07_31:66514008 Ciliary body degenerative changes (disorder) degenerative changes of ciliary body (disorder) disease_ontology DOID:11849 degenerative changes of ciliary body true Ciliary body degenerative changes (disorder) SNOMEDCT_2005_07_31:193508003 degenerative changes of ciliary body (disorder) SNOMEDCT_2005_07_31:40153005 ICD9CM:367.81 SNOMEDCT_US_2016_03_01:81519008 UMLS_CUI:C0155000 disease_ontology DOID:11850 transient refractive change A leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules. ICD10CM:A30.0 ICD9CM:030.2 SNOMEDCT_US_2016_03_01:14386001 UMLS_CUI:C0021192 Indeterminate leprosy (disorder) Indeterminate leprosy [group I] Uncharacteristic leprosy disease_ontology DOID:11851 indeterminate leprosy A leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules. url:http://emedicine.medscape.com/article/1104977-clinical#a0217 Indeterminate leprosy (disorder) SNOMEDCT_2005_07_31:14386001 Indeterminate leprosy [group I] ICD9CM_2006:030.2 Uncharacteristic leprosy MTHICD9_2006:030.2 Syphilitic endocarditis of aortic valve (disorder) disease_ontology DOID:11852 aortic valve syphilitic endocarditis true Syphilitic endocarditis of aortic valve (disorder) SNOMEDCT_2005_07_31:278480000 ICD10CM:H50.11 ICD9CM:378.11 MESH:D005099 SNOMEDCT_US_2016_03_01:194087008 SNOMEDCT_US_2016_03_01:5725006 UMLS_CUI:C0152206 disease_ontology DOID:11853 monocular exotropia Monocular exotropia with A pattern (disorder) disease_ontology DOID:11854 monocular exotropia with A pattern true Monocular exotropia with A pattern (disorder) SNOMEDCT_2005_07_31:45062007 Intermittent exotropia, monocular Intermittent monocular exotropia (disorder) Monocular intermittent exotropia (disorder) disease_ontology DOID:11855 intermittent monocular exotropia true Intermittent exotropia, monocular ICD9CM_2006:378.23 Intermittent monocular exotropia (disorder) SNOMEDCT_2005_07_31:194103006 Monocular intermittent exotropia (disorder) SNOMEDCT_2005_07_31:67028000 Monocular exotropia with V pattern (disorder) disease_ontology DOID:11856 monocular exotropia with V pattern true Monocular exotropia with V pattern (disorder) SNOMEDCT_2005_07_31:111529008 disease_ontology DOID:11861 prolonged pregnancy true disease_ontology DOID:11862 late pregnancy true ICD9CM:363.04 SNOMEDCT_US_2016_03_01:56787009 UMLS_CUI:C0339394 disease_ontology DOID:11864 peripheral focal chorioretinitis ICD9CM:207.1 SNOMEDCT_US_2016_03_01:188753004 SNOMEDCT_US_2016_03_01:190042004 SNOMEDCT_US_2016_03_01:269478004 SNOMEDCT_US_2016_03_01:48292007 SNOMEDCT_US_2016_03_01:92810002 UMLS_CUI:C0152272 disease_ontology DOID:11868 chronic erythremia MESH:D020429 SNOMEDCT_US_2016_03_01:35062009 SNOMEDCT_US_2016_03_01:359842002 SNOMEDCT_US_2016_03_01:399076001 SNOMEDCT_US_2016_03_01:399364006 UMLS_CUI:C0751932 Posterior tibial neuropathy (disorder) Tibial neuropathy (disorder) Tibial neuropathy (disorder) [Ambiguous] disease_ontology DOID:1187 tibial neuropathy Posterior tibial neuropathy (disorder) SNOMEDCT_2005_07_31:399364006 Tibial neuropathy (disorder) SNOMEDCT_2005_07_31:359842002 Tibial neuropathy (disorder) SNOMEDCT_2005_07_31:399076001 Tibial neuropathy (disorder) [Ambiguous] SNOMEDCT_2005_07_31:35062009 ICD10CM:G31.01 ICD9CM:331.11 MESH:D020774 NCI:C85008 OMIM:172700 SNOMEDCT_US_2016_03_01:13092008 SNOMEDCT_US_2016_03_01:154998003 SNOMEDCT_US_2016_03_01:267688001 UMLS_CUI:C0236642 Dementia in Pick's disease (disorder) LOBAR ATROPHY OF BRAIN PICK DISEASE OF BRAIN Pick disease disease_ontology DOID:11870 OMIM mapping confirmed by DO. [SN]. Pick's disease Dementia in Pick's disease (disorder) SNOMEDCT_2005_07_31:192174003 ICD10CM:H16.11 ICD9CM:370.22 SNOMEDCT_US_2016_03_01:193769006 SNOMEDCT_US_2016_03_01:2853006 UMLS_CUI:C0155076 disease_ontology DOID:11871 macular keratitis Septicemia due to Staphylococcus aureus (disorder) disease_ontology DOID:11872 Staphylococcus aureus septicemia true Septicemia due to Staphylococcus aureus (disorder) SNOMEDCT_2005_07_31:186385009 disease_ontology DOID:11873 staphylococcal septicemia true ICD10CM:H53.61 ICD9CM:368.63 SNOMEDCT_US_2016_03_01:193692003 SNOMEDCT_US_2016_03_01:50455002 UMLS_CUI:C0155019 abnormal dark adaptation curve disease_ontology DOID:11874 abnormal threshold of rods abnormal dark adaptation curve ICD9CM_2006:368.63 ICD10CM:K12.1 MESH:D013282 SNOMEDCT_US_2016_03_01:196576008 SNOMEDCT_US_2016_03_01:69254008 UMLS_CUI:C0038364 Denture sore mouth disease_ontology DOID:11875 denture stomatitis Denture sore mouth MTHICD9_2006:528.9 A neuropathy that is characterized by damage to a single nerve, which results in loss of movement, sensation, or other function of that nerve. ICD10CM:G58.9 MESH:D020422 SNOMEDCT_US_2016_03_01:128189008 SNOMEDCT_US_2016_03_01:304595001 UMLS_CUI:C0494491 disease_ontology DOID:1188 mononeuropathy A neuropathy that is characterized by damage to a single nerve, which results in loss of movement, sensation, or other function of that nerve. url:https://medlineplus.gov/ency/article/000780.htm MESH:D014516 NCI:C3427 SNOMEDCT_US_2016_03_01:126882009 UMLS_CUI:C0041955 neoplasm of ureter (disorder) ureteral tumor disease_ontology DOID:11885 ureteral benign neoplasm neoplasm of ureter (disorder) SNOMEDCT_2005_07_31:126882009 ureteral tumor NCI2004_11_17:C3427 NCI:C6161 UMLS_CUI:C1336875 ureteral leiomyoma disease_ontology DOID:11887 ureter leiomyoma ureteral leiomyoma NCI2004_11_17:C6161 NCI:C6162 UMLS_CUI:C1336877 ureteral schwannoma disease_ontology DOID:11888 schwannoma of ureter ureteral schwannoma NCI2004_11_17:C6162 ICD9CM:174.0 SNOMEDCT_US_2016_03_01:188147009 SNOMEDCT_US_2016_03_01:188150007 UMLS_CUI:C0024621 malignant neoplasm of nipple and areola of female breast (disorder) malignant neoplasm of nipple or areola of female breast NOS (disorder) disease_ontology DOID:11889 female breast nipple and areola cancer malignant neoplasm of nipple and areola of female breast (disorder) SNOMEDCT_2005_07_31:188147009 malignant neoplasm of nipple or areola of female breast NOS (disorder) SNOMEDCT_2005_07_31:188150007 A parasitic protozoa infectious disease that involves infection caused by amoeboid protozoa. disease_ontology sarcodina DOID:11892 Amoebozoa infectious disease true A parasitic protozoa infectious disease that involves infection caused by amoeboid protozoa. url:http://en.wikipedia.org/wiki/Amoebozoa An amebiasis that involves infection of the skin caused by the parasite Entamoeba histolytica, resulting in lesions on the body. Amebic skin ulceration Amebic ulcer of skin (disorder) Amoebic skin ulceration amebic ulcer of skin disease_ontology DOID:11893 cutaneous amebiasis true An amebiasis that involves infection of the skin caused by the parasite Entamoeba histolytica, resulting in lesions on the body. url:http://www.ncbi.nlm.nih.gov/pubmed/16780468 Amebic skin ulceration ICD9CM_2006:006.6 Amebic ulcer of skin (disorder) SNOMEDCT_2005_07_31:400086005 Amoebic skin ulceration SNOMEDCT_2005_07_31:54065007 A parasitic protozoa infectious disease that involves infection of the cornea of the eye with Acanthamoeba in people wearing contact lenses. The symptoms include eye pain, eye redness, blurred vision, sensitivity to light, excessive tearing and sensation of something in the eye. Acanthameba keratitis Acanthamoeba keratitis (disorder) disease_ontology DOID:11896 Acanthamoeba keratitis true A parasitic protozoa infectious disease that involves infection of the cornea of the eye with Acanthamoeba in people wearing contact lenses. The symptoms include eye pain, eye redness, blurred vision, sensitivity to light, excessive tearing and sensation of something in the eye. url:http://www.cdc.gov/acanthamoeba/disease.html Acanthameba keratitis SNOMEDCT_2005_07_31:187243004 Acanthamoeba keratitis (disorder) SNOMEDCT_2005_07_31:231896005 A parasitic stramenopiles infectious disease that involves infection of the intestine with a pathogenic heterokont Blastocystis hominis. The symptoms include watery diarrhea, abdominal pain, perianal pruritus, and excessive flatulence. DOID:0050248 disease_ontology DOID:11897 Blastocystis hominis infectious disease true A parasitic stramenopiles infectious disease that involves infection of the intestine with a pathogenic heterokont Blastocystis hominis. The symptoms include watery diarrhea, abdominal pain, perianal pruritus, and excessive flatulence. url:http://www.dpd.cdc.gov/DPDx/HTML/Blastocystis.htm A female reproductive system cancer that is located_in the vagina. DOID:1902 ICD10CM:C52 ICD9CM:184.0 MESH:D014625 NCI:C3437 NCI:C7410 SNOMEDCT_US_2016_03_01:126921000 SNOMEDCT_US_2016_03_01:154534007 SNOMEDCT_US_2016_03_01:188210000 SNOMEDCT_US_2016_03_01:363445000 UMLS_CUI:C0042237 UMLS_CUI:C0042258 malignant neoplasm of vagina malignant tumor of vagina (disorder) malignant vaginal tumor neoplasm of vagina (disorder) vagina neoplasm vaginal tumor disease_ontology DOID:119 vaginal cancer A female reproductive system cancer that is located_in the vagina. url:http://www.cancer.gov/dictionary?CdrID=523460 malignant neoplasm of vagina ICD9CM_2006:184.0 malignant tumor of vagina (disorder) SNOMEDCT_2005_07_31:363445000 malignant vaginal tumor NCI2004_11_17:C7410 neoplasm of vagina (disorder) SNOMEDCT_2005_07_31:126921000 vagina neoplasm CSP2005:2016-2004 vaginal tumor NCI2004_11_17:C3437 An amebiasis that involves infection of the brain caused by the parasite Entamoeba histolytica resulting in brain abscesses. Amebic brain abscess Amebic brain abscess (disorder) amebic abscess of brain disease_ontology DOID:11902 cerebral amebiasis true An amebiasis that involves infection of the brain caused by the parasite Entamoeba histolytica resulting in brain abscesses. url:http://emedicine.medscape.com/article/996092-overview url:http://www.ncbi.nlm.nih.gov/sites/entrez/8126521 Amebic brain abscess ICD9CM_2006:006.5 Amebic brain abscess (disorder) SNOMEDCT_2005_07_31:27908001 ICD10CM:C51.0 ICD9CM:184.1 NCI:C7638 SNOMEDCT_US_2016_03_01:188212008 SNOMEDCT_US_2016_03_01:363446004 SNOMEDCT_US_2016_03_01:93850006 UMLS_CUI:C0496814 malignant neoplasm of labia majora malignant neoplasm of labia majora (disorder) malignant neoplasm of labia majora NOS (disorder) malignant tumor of Labia Majora disease_ontology DOID:11905 labium majus cancer malignant neoplasm of labia majora ICD9CM_2006:184.1 malignant neoplasm of labia majora SNOMEDCT_2005_07_31:93850006 malignant neoplasm of labia majora (disorder) SNOMEDCT_2005_07_31:363446004 malignant neoplasm of labia majora NOS (disorder) SNOMEDCT_2005_07_31:188212008 malignant tumor of Labia Majora NCI2004_11_17:C7638 MESH:D004473 SNOMEDCT_US_2016_03_01:85791004 UMLS_CUI:C0013568 disease_ontology DOID:11907 ecthyma ICD10CM:K31.84 ICD9CM:536.3 MESH:D018589 NCI:C80512 SNOMEDCT_US_2016_03_01:196753007 SNOMEDCT_US_2016_03_01:235675006 SNOMEDCT_US_2016_03_01:77164002 UMLS_CUI:C0152020 Gastroparalysis Gastroparesis syndrome gastric atonia disease_ontology DOID:11914 gastroparesis Gastroparalysis MTHICD9_2006:536.3 Gastroparesis syndrome SNOMEDCT_2005_07_31:77164002 gastric atonia SNOMEDCT_2005_07_31:196753007 A dermatophytosis that results_in fungal skin infection located_in groin, located_in perineum, or located_in perianal region, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching in groin, thigh skin folds, or anus and results_in_formation_of rash which appears as raised red plaques (platelike areas) and scaly patches with sharply defined borders that may blister and ooze. ICD9CM:110.3 NCI:C34535 SNOMEDCT_US_2016_03_01:186989008 SNOMEDCT_US_2016_03_01:186992007 SNOMEDCT_US_2016_03_01:266150008 SNOMEDCT_US_2016_03_01:59089002 UMLS_CUI:C0011638 (Dermatophytosis of groin & perianal area) or (Dhobie itch) or (tinea cruris) Dermatophytosis of Groin and Perianal Area Dermatophytosis of groin and perianal area (disorder) Dermatophytosis of groin and perianal area NOS (disorder) disease_ontology DOID:11917 tinea cruris A dermatophytosis that results_in fungal skin infection located_in groin, located_in perineum, or located_in perianal region, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching in groin, thigh skin folds, or anus and results_in_formation_of rash which appears as raised red plaques (platelike areas) and scaly patches with sharply defined borders that may blister and ooze. url:http://en.wikipedia.org/wiki/Tinea_cruris (Dermatophytosis of groin & perianal area) or (Dhobie itch) or (tinea cruris) SNOMEDCT_2005_07_31:186989008 Dermatophytosis of Groin and Perianal Area NCI2004_11_17:C34535 Dermatophytosis of groin and perianal area (disorder) SNOMEDCT_2005_07_31:266150008 Dermatophytosis of groin and perianal area NOS (disorder) SNOMEDCT_2005_07_31:186992007 A nervous system cancer that is located_in the peripheral nervous system. DOID:3194 MESH:D010524 MESH:D018317 NCI:C3321 NCI:C4972 SNOMEDCT_US_2016_03_01:115242003 SNOMEDCT_US_2016_03_01:126980002 SNOMEDCT_US_2016_03_01:134214003 SNOMEDCT_US_2016_03_01:189946005 SNOMEDCT_US_2016_03_01:189953001 UMLS_CUI:C0031118 UMLS_CUI:C0206727 neoplasm of peripheral nerve (disorder) nerve sheath neoplasm nerve sheath tumors tumor of PNS disease_ontology DOID:1192 peripheral nervous system neoplasm A nervous system cancer that is located_in the peripheral nervous system. url:http://en.wikipedia.org/wiki/Peripheral_nervous_system neoplasm of peripheral nerve (disorder) SNOMEDCT_2005_07_31:126980002 nerve sheath neoplasm CSP2005:2012-6947 tumor of PNS NCI2004_11_17:C3321 A respiratory system cancer that is located_in the trachea. ICD10CM:C33 ICD9CM:162.0 NCI:C9346 SNOMEDCT_US_2016_03_01:187855003 SNOMEDCT_US_2016_03_01:269562004 SNOMEDCT_US_2016_03_01:363432004 UMLS_CUI:C0153489 Ca trachea malignant Tracheal tumor malignant neoplasm of trachea malignant tumor of trachea (disorder) tracheal neoplasm disease_ontology DOID:11920 tracheal cancer A respiratory system cancer that is located_in the trachea. url:http://en.wikipedia.org/wiki/Lung_cancer Ca trachea SNOMEDCT_2005_07_31:269562004 malignant Tracheal tumor NCI2004_11_17:C9346 malignant neoplasm of trachea MTH:NOCODE malignant tumor of trachea (disorder) SNOMEDCT_2005_07_31:363432004 An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx. MESH:D006258 NCI:C3077 SNOMEDCT_US_2016_03_01:255055008 UMLS_CUI:C0018671 head and neck neoplasm head and neck tumours head/neck neoplasm tumor of head and neck (disorder) disease_ontology DOID:11934 head and neck cancer An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx. url:http://apps.who.int/bookorders/anglais/detart1.jsp?sesslan=1&codlan=1&codcol=70&codcch=9 url:http://en.wikipedia.org/wiki/Head_and_neck_cancer url:http://www.cancer.gov/cancertopics/factsheet/Sites-Types/head-and-neck url:http://www.cancer.gov/dictionary?CdrID=257519 url:http://www.iarc.fr/en/publications/pdfs-online/pat-gen/bb9/index.php head and neck neoplasm MTH:NOCODE head/neck neoplasm CSP2005:2005-4325 tumor of head and neck (disorder) SNOMEDCT_2005_07_31:255055008 disease_ontology DOID:11939 schizo-affective type schizophrenia subchronic state true A Trichomonas vaginalis trichomoniasis that involves inflammation of the vagina caused by Trichomonas vaginalis. The symptoms include foul vaginal odor, burning during urination, vaginal discharge and irritation of the genital area. Leukorrhoea vaginalis - trichomonal Trichomonal leukorrhoea Trichomonal vaginitis &/or vulvovaginitis Trichomonal vaginitis (disorder) Trichomonal vulvovaginitis Trichomonal vulvovaginitis (disorder) vaginal trichomoniasis (disorder) disease_ontology DOID:11943 Trichomonas vaginitis true A Trichomonas vaginalis trichomoniasis that involves inflammation of the vagina caused by Trichomonas vaginalis. The symptoms include foul vaginal odor, burning during urination, vaginal discharge and irritation of the genital area. url:http://www.dpd.cdc.gov/dpdx/HTML/Trichomoniasis.htm Leukorrhoea vaginalis - trichomonal SNOMEDCT_2005_07_31:187201006 Trichomonal leukorrhoea SNOMEDCT_2005_07_31:266165009 Trichomonal vaginitis &/or vulvovaginitis SNOMEDCT_2005_07_31:187202004 Trichomonal vaginitis (disorder) SNOMEDCT_2005_07_31:276877003 Trichomonal vulvovaginitis ICD9CM_2006:131.01 Trichomonal vulvovaginitis (disorder) SNOMEDCT_2005_07_31:81598001 vaginal trichomoniasis (disorder) SNOMEDCT_2005_07_31:500000 A Trichomonas vaginalis trichomoniasis that involves inflammation of the prostate gland caused by Trichomonas vaginalis. Trichomonal prostatitis Trichomonal prostatitis (disorder) disease_ontology DOID:11944 Trichomonas prostatitis true A Trichomonas vaginalis trichomoniasis that involves inflammation of the prostate gland caused by Trichomonas vaginalis. url:http://www.dpd.cdc.gov/dpdx/HTML/Trichomoniasis.htm Trichomonal prostatitis ICD9CM_2006:131.03 Trichomonal prostatitis SNOMEDCT_2005_07_31:187203009 Trichomonal prostatitis (disorder) SNOMEDCT_2005_07_31:71590000 A Trichomonas vaginalis trichomoniasis that involves inflammation of the urinary bladder caused by Trichomonas vaginalis. The symptoms include pain during urination, foul urine odor and abnormal urine color. Trichomonal cystitis (disorder) disease_ontology DOID:11945 Trichomonas cystitis true A Trichomonas vaginalis trichomoniasis that involves inflammation of the urinary bladder caused by Trichomonas vaginalis. The symptoms include pain during urination, foul urine odor and abnormal urine color. url:http://www.merck.com/mmpe/sec14/ch194/ch194j.html Trichomonal cystitis (disorder) SNOMEDCT_2005_07_31:197850006 Aborter - recurrent Habitual aborter Habitual aborter - unspecified (disorder) Habitual aborter NOS (disorder) chronic spontaneous abortion recurrent abortion (disorder) recurrent miscarriage disease_ontology DOID:11946 habitual abortion true Aborter - recurrent SNOMEDCT_2005_07_31:146811001 Aborter - recurrent SNOMEDCT_2005_07_31:268574009 Habitual aborter SNOMEDCT_2005_07_31:54726000 Habitual aborter - unspecified (disorder) SNOMEDCT_2005_07_31:199086002 Habitual aborter NOS (disorder) SNOMEDCT_2005_07_31:199090000 chronic spontaneous abortion CSP2005:2404-4533 recurrent abortion (disorder) SNOMEDCT_2005_07_31:102878001 recurrent miscarriage SNOMEDCT_2005_07_31:156126009 Major depressive disorder, recurrent episode, in full remission recurrent major depression in complete remission (disorder) recurrent major depressive episodes, in full remission (disorder) disease_ontology DOID:11947 recurrent major depression in complete remission true Major depressive disorder, recurrent episode, in full remission ICD9CM_2006:296.36 recurrent major depression in complete remission (disorder) SNOMEDCT_2005_07_31:46244001 recurrent major depressive episodes, in full remission (disorder) SNOMEDCT_2005_07_31:191615005 EFO:0004226 ICD10CM:A81.0 ICD10CM:A81.00 ICD9CM:046.1 MESH:D007562 NCI:C26802 OMIM:123400 SNOMEDCT_US_2016_03_01:155061007 SNOMEDCT_US_2016_03_01:792004 SNOMEDCT_US_2016_03_01:79358009 UMLS_CUI:C0022336 CJD (Creutzfeldt Jakob disease) Creutzfeldt Jacob syndrome Creutzfeldt Jakob disease Creutzfeldt-Jacob disease Jakob-Creutzfeldt disease Subacute spongiform encephalopathy Transmissible virus dementia (disorder) disease_ontology DOID:11949 OMIM mapping confirmed by DO. [SN]. Creutzfeldt-Jakob disease CJD (Creutzfeldt Jakob disease) CSP2005:2042-5006 Creutzfeldt-Jacob disease NCI2004_11_17:C26802 Jakob-Creutzfeldt disease ICD9CM_2006:046.1 Subacute spongiform encephalopathy MTHICD9_2006:046.1 Transmissible virus dementia (disorder) SNOMEDCT_2005_07_31:79358009 NCI:C27025 SNOMEDCT_US_2016_03_01:129611009 SNOMEDCT_US_2016_03_01:230599000 UMLS_CUI:C0238309 Ischemic peripheral neuropathy disease_ontology DOID:1195 ischemic neuropathy Ischemic peripheral neuropathy SNOMEDCT_2005_07_31:129611009 DOID:11951 DOID:11953 antepartum congenital cardiovascular disorder of mother postpartum congenital cardiovascular disorder of mother disease_ontology DOID:11950 Congenital cardiovascular disorder complicating pregnancy, childbirth, or the puerperium true disease_ontology DOID:11952 Congenital cardiovascular disorder of mother, with delivery true Psychosexual Dysfunction with Inhibited Sexual Excitement disease_ontology DOID:11954 psychosexual dysfunction with inhibited sexual excitement true Psychosexual Dysfunction with Inhibited Sexual Excitement NCI2004_11_17:C34960 disease_ontology DOID:11955 malnutrition of moderate degree true DOID:11962 ICD10CM:K20 ICD10CM:K20.9 ICD9CM:530.1 ICD9CM:530.10 MESH:D004941 NCI:C9224 SNOMEDCT_US_2016_03_01:155673008 SNOMEDCT_US_2016_03_01:16761005 SNOMEDCT_US_2016_03_01:196605000 SNOMEDCT_US_2016_03_01:266498005 UMLS_CUI:C0014868 acute esophagitis disease_ontology DOID:11963 esophagitis An American histoplasmosis that results_in inflammation located_in retina, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of lesions. Histoplasma capsulatum with retinitis (disorder) disease_ontology DOID:11964 Histoplasma capsulatum retinitis true An American histoplasmosis that results_in inflammation located_in retina, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of lesions. url:http://www.ncbi.nlm.nih.gov/pubmed/1945308 Histoplasma capsulatum with retinitis (disorder) SNOMEDCT_2005_07_31:187039009 ICD10CM:N95.2 ICD9CM:627.3 SNOMEDCT_US_2016_03_01:156054004 SNOMEDCT_US_2016_03_01:52441000 UMLS_CUI:C0156409 Senile vaginitis atrophic vaginitis disease_ontology DOID:11968 postmenopausal atrophic vaginitis Senile vaginitis MTHICD9_2006:627.3 atrophic vaginitis SNOMEDCT_2005_07_31:52441000 disease_ontology DOID:11970 symptomatic menopausal or female climacteric state true A dysostosis that results_in abnormal fusing of adjacent bones. MESH:D013580 UMLS_CUI:C0039093 disease_ontology DOID:11971 synostosis A dysostosis that results_in abnormal fusing of adjacent bones. url:http://en.wikipedia.org/wiki/Synostosis url:http://medical-dictionary.thefreedictionary.com/synostosis ICD10CM:H47.31 ICD10CM:H47.319 ICD10CM:Q14.2 ICD9CM:377.23 MESH:C535970 OMIM:120430 SNOMEDCT_US_2016_03_01:155191004 SNOMEDCT_US_2016_03_01:17541006 SNOMEDCT_US_2016_03_01:194049000 SNOMEDCT_US_2016_03_01:204184001 SNOMEDCT_US_2016_03_01:267744000 SNOMEDCT_US_2016_03_01:44295002 UMLS_CUI:C0155299 Coloboma of optic disc disease_ontology DOID:11975 OMIM mapping confirmed by DO. [SN]. coloboma of optic nerve Coloboma of optic disc SNOMEDCT_2005_07_31:17541006 A primary bacterial infectious disease that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) located_in neuromuscular junction, resulting in descending muscle paralysis, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F. CSP:5000-0060 ICD10CM:A05.1 MESH:D001906 NCI:C84599 SNOMEDCT_US_2016_03_01:154276003 SNOMEDCT_US_2016_03_01:186110004 SNOMEDCT_US_2016_03_01:266177004 SNOMEDCT_US_2016_03_01:398523009 SNOMEDCT_US_2016_03_01:398530003 SNOMEDCT_US_2016_03_01:398565003 SNOMEDCT_US_2016_03_01:414531002 SNOMEDCT_US_2016_03_01:49248004 UMLS_CUI:C0006057 Botulism poisoning Food poisoning due to Clostridium botulinum Foodborne botulism Infection due to clostridium botulinum Intoxication with Clostridium botulinum toxin disease_ontology DOID:11976 botulism A primary bacterial infectious disease that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) located_in neuromuscular junction, resulting in descending muscle paralysis, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F. url:http://emedicine.medscape.com/article/325451-overview url:http://en.wikipedia.org/wiki/Botulism url:http://jnnp.bmj.com/content/75/suppl_3/iii35.full.pdf+html url:http://pathema.jcvi.org/pathema/botulinum_resources.shtml url:http://www.health.state.nm.us/erd/HealthData/Foodborne/Botulism.pdf url:http://www.who.int/mediacentre/factsheets/fs270/en/ Food poisoning due to Clostridium botulinum MTHICD9_2006:005.1 Foodborne botulism SNOMEDCT_2005_07_31:398523009 Infection due to clostridium botulinum SNOMEDCT_2005_07_31:398565003 Intoxication with Clostridium botulinum toxin SNOMEDCT_2005_07_31:414531002 Magnesium disorder disorder of magnesium metabolism disorder of magnesium metabolism (disorder) disorder of magnesium metabolism NOS (disorder) disease_ontology DOID:11977 disorder of magnesium metabolism true Magnesium disorder SNOMEDCT_2005_07_31:154751003 Magnesium disorder SNOMEDCT_2005_07_31:267504005 disorder of magnesium metabolism ICD9CM_2006:275.2 disorder of magnesium metabolism (disorder) SNOMEDCT_2005_07_31:60853003 disorder of magnesium metabolism NOS (disorder) SNOMEDCT_2005_07_31:190857007 disease_ontology DOID:11978 chronic pyelonephritis without lesion of renal medullary necrosis true ICD9CM:278.01 MESH:D009767 NCI:C34858 SNOMEDCT_US_2016_03_01:190967003 SNOMEDCT_US_2016_03_01:238136002 SNOMEDCT_US_2016_03_01:389986000 SNOMEDCT_US_2016_03_01:83911000119104 UMLS_CUI:C0028756 Severe obesity disease_ontology DOID:11981 morbid obesity Severe obesity MTHICD9_2006:278.01 ICD10CM:Q87.1 ICD9CM:759.81 MESH:D011218 NCI:C75463 OMIM:176270 SNOMEDCT_US_2016_03_01:205794007 SNOMEDCT_US_2016_03_01:89392001 UMLS_CUI:C0032897 Prader Willi syndrome disease_ontology DOID:11983 OMIM mapping confirmed by DO. [SN]. Prader-Willi syndrome Prader Willi syndrome CSP2005:1849-7731 An intrinsic cardiomyopathy that has_material_basis_in autosomal dominant inheritance and that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause. DOID:11986 ICD10CM:I42.1 ICD9CM:425.1 ICD9CM:425.11 KEGG:05410 MESH:D002312 MESH:D024741 NCI:C34449 NCI:C84773 OMIM:PS192600 ORDO:155 SNOMEDCT_US_2016_03_01:15471000 SNOMEDCT_US_2016_03_01:155351008 SNOMEDCT_US_2016_03_01:233873004 SNOMEDCT_US_2016_03_01:266301006 SNOMEDCT_US_2016_03_01:389998005 SNOMEDCT_US_2016_03_01:389999002 SNOMEDCT_US_2016_03_01:45227007 SNOMEDCT_US_2016_03_01:83978005 UMLS_CUI:C0007194 UMLS_CUI:C0949658 familial hypertrophic cardiomyopathy hypertrophic obstructive cardiomyopathy disease_ontology DOID:11984 Xref MGI. OMIM mapping confirmed by DO. [SN]. hypertrophic cardiomyopathy An intrinsic cardiomyopathy that has_material_basis_in autosomal dominant inheritance and that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause. url:http://en.wikipedia.org/wiki/Hypertrophic_cardiomyopathy url:http://ghr.nlm.nih.gov/condition/familial-hypertrophic-cardiomyopathy url:http://www.mayoclinic.org/diseases-conditions/hypertrophic-cardiomyopathy/basics/definition/con-20030747 url:http://www.nhlbi.nih.gov/health/health-topics/topics/cm/ hypertrophic obstructive cardiomyopathy SNOMEDCT_2005_07_31:389999002 gonococcal infectious disease of anus and rectum gonococcal proctitis disease_ontology DOID:11987 anorectal gonorrhea true ICD10CM:H11.12 ICD9CM:372.54 SNOMEDCT_US_2016_03_01:13706005 UMLS_CUI:C0155162 disease_ontology DOID:11988 conjunctival concretion A tularemia that results_in painful regional lymphadenopathy and an ulcerated skin lesion. ICD10CM:A21.0 ICD9CM:021.0 SNOMEDCT_US_2016_03_01:37722001 UMLS_CUI:C0152941 Ulceroglandular tularemia (disorder) disease_ontology DOID:11990 ulceroglandular tularemia A tularemia that results_in painful regional lymphadenopathy and an ulcerated skin lesion. url:http://emedicine.medscape.com/article/230923-clinical url:http://www.cdc.gov/tularemia/signssymptoms/ Ulceroglandular tularemia (disorder) SNOMEDCT_2005_07_31:37722001 An osteosclerosis that results_in numerous bone islands located_in skeleton. ICD10CM:Q78.8 ICD9CM:756.53 MESH:D010023 NCI:C84985 SNOMEDCT_US_2016_03_01:9147009 UMLS_CUI:C0029455 disease_ontology DOID:11991 osteopoikilosis An osteosclerosis that results_in numerous bone islands located_in skeleton. url:http://en.wikipedia.org/wiki/Osteopoikilosis url:http://www.bonetumor.org/unknown-tumor-type-bone/osteopoikilosis url:http://www.medcyclopaedia.com/library/topics/volume_iii_1/o/osteopoikilosis.aspx ICD10CM:N50.0 ICD9CM:608.3 NCI:C123259 SNOMEDCT_US_2016_03_01:155938008 SNOMEDCT_US_2016_03_01:17585008 SNOMEDCT_US_2016_03_01:249242001 UMLS_CUI:C0156312 disease_ontology DOID:11994 atrophy of testis ICD10CM:N44.0 ICD10CM:N44.00 ICD10CM:N44.02 ICD9CM:608.2 ICD9CM:608.20 MESH:D013086 NCI:C26885 OMIM:187400 SNOMEDCT_US_2016_03_01:155937003 SNOMEDCT_US_2016_03_01:198045001 SNOMEDCT_US_2016_03_01:198046000 SNOMEDCT_US_2016_03_01:198048004 SNOMEDCT_US_2016_03_01:49198006 SNOMEDCT_US_2016_03_01:81996005 UMLS_CUI:C0037856 Torsion of testicle Torsion of testis testicular Torsion disease_ontology DOID:11996 spermatic cord torsion Torsion of testicle MTHICD9_2006:608.2 Torsion of testis ICD9CM_2006:608.2 testicular Torsion NCI2004_11_17:C26885 ICD10CM:N43.4 ICD10CM:N43.40 ICD10CM:N50.3 ICD9CM:608.1 MESH:D013088 NCI:C120909 NCI:C3865 SNOMEDCT_US_2016_03_01:155936007 SNOMEDCT_US_2016_03_01:155941004 SNOMEDCT_US_2016_03_01:43077002 SNOMEDCT_US_2016_03_01:49263001 UMLS_CUI:C0037859 disease_ontology DOID:11997 spermatocele A reproductive organ cancer that is manifested in the female genitals. This includes organs such as the ovaries, fallopian tubes, uterus, cervix, vagina and vulva. DOID:1244 DOID:1281 ICD10CM:C57 ICD9CM:184 MESH:D005833 NCI:C3053 NCI:C4913 SNOMEDCT_US_2016_03_01:126907002 SNOMEDCT_US_2016_03_01:188207007 UMLS_CUI:C0017416 UMLS_CUI:C0153585 UMLS_CUI:C0699889 female reproductive cancer malignant Gynecologic tumor malignant neoplasm of female genital organ disease_ontology DOID:120 female reproductive organ cancer A reproductive organ cancer that is manifested in the female genitals. This includes organs such as the ovaries, fallopian tubes, uterus, cervix, vagina and vulva. url:http://en.wikipedia.org/wiki/Template:Female_genital_neoplasia url:http://www.wrongdiagnosis.com/g/genital_system_cancer/intro.htm malignant Gynecologic tumor NCI2004_11_17:C4913 metastatic tumor to the Trachea secondary malignant neoplasm of trachea (disorder) disease_ontology DOID:12000 secondary malignant neoplasm of trachea true metastatic tumor to the Trachea NCI2004_11_17:C4887 secondary malignant neoplasm of trachea (disorder) SNOMEDCT_2005_07_31:94641004 NCI:C6248 UMLS_CUI:C1336773 Lymphoma of Trachea lymphoma of the trachea disease_ontology DOID:12001 tracheal lymphoma Lymphoma of Trachea NCI2004_11_17:C6248 A sarcoma and malignant tumor of trachea that is located_in the trachea. NCI:C6050 UMLS_CUI:C1336774 sarcoma of the trachea disease_ontology DOID:12002 trachea sarcoma A sarcoma and malignant tumor of trachea that is located_in the trachea. url:http://en.wikipedia.org/wiki/Lung_cancer sarcoma of the trachea NCI2004_11_17:C6050 NCI:C4448 SNOMEDCT_US_2016_03_01:254620000 UMLS_CUI:C0345946 Tracheal Epidermoid carcinoma squamous cell carcinoma of trachea (disorder) disease_ontology squamous cell carcinoma of trachea DOID:12003 trachea squamous cell carcinoma Tracheal Epidermoid carcinoma NCI2004_11_17:C4448 squamous cell carcinoma of trachea (disorder) SNOMEDCT_2005_07_31:254620000 NCI:C5122 SNOMEDCT_US_2016_03_01:126971002 UMLS_CUI:C1263897 neoplasm of trigeminal nerve (disorder) tumor of Trigeminal nerve disease_ontology DOID:1201 trigeminal nerve neoplasm neoplasm of trigeminal nerve (disorder) SNOMEDCT_2005_07_31:126971002 tumor of Trigeminal nerve NCI2004_11_17:C5122 ICD10CM:H47.01 ICD9CM:377.41 MESH:D018917 SNOMEDCT_US_2016_03_01:14357004 UMLS_CUI:C0155305 Ischemic optic neuropathy disease_ontology DOID:12010 anterior ischemic optic neuropathy Ischemic optic neuropathy ICD9CM_2006:377.41 DOID:12015 ICD10CM:C71.1 ICD9CM:191.1 NCI:C5572 SNOMEDCT_US_2016_03_01:126954003 SNOMEDCT_US_2016_03_01:363467004 SNOMEDCT_US_2016_03_01:93807001 UMLS_CUI:C0153635 UMLS_CUI:C1263886 malignant neoplasm of frontal lobe malignant neoplasm of frontal lobe (disorder) neoplasm of frontal lobe (disorder) tumor of Frontal Lobe disease_ontology DOID:12016 frontal lobe neoplasm malignant neoplasm of frontal lobe ICD9CM_2006:191.1 SNOMEDCT_2005_07_31:93807001 malignant neoplasm of frontal lobe (disorder) SNOMEDCT_2005_07_31:363467004 neoplasm of frontal lobe (disorder) SNOMEDCT_2005_07_31:126954003 tumor of Frontal Lobe NCI2004_11_17:C5572 A commensal streptococcal infectious disease that is caused by group B streptococci (Streptococcus agalactiae) usually infecting neonates and the elderly. Group B Group B streptococcal pneumonia (disorder) Pneumonia due to Streptococcus Group B disease_ontology DOID:12017 group B streptococcal pneumonia true A commensal streptococcal infectious disease that is caused by group B streptococci (Streptococcus agalactiae) usually infecting neonates and the elderly. url:http://en.wikipedia.org/wiki/Streptococcus#Group_B url:http://www.ncbi.nlm.nih.gov/pubmed/11462195 Group B ICD9CM_2006:482.32 Group B streptococcal pneumonia (disorder) SNOMEDCT_2005_07_31:195886008 Pneumonia due to Streptococcus Group B MTHICD9_2006:482.32 A commensal streptococcal infectious disease that is caused due to the infection by group A streptococci, of which Streptococcus pyogenes is the most important pathogen. The infection results in the development of empyema, pneumothorax, and cyst. pneumonia due to streptococcus group A disease_ontology DOID:12019 group A streptococcal pneumonia true A commensal streptococcal infectious disease that is caused due to the infection by group A streptococci, of which Streptococcus pyogenes is the most important pathogen. The infection results in the development of empyema, pneumothorax, and cyst. url:http://books.google.com/books?id=fYgVmmMKS50C&pg=RA1-PA419&lpg#v=onepage&q=&f=false malignant neoplasm of corpus uteri, excluding isthmus (disorder) disease_ontology DOID:12020 malignant neoplasm of corpus uteri, except isthmus true malignant neoplasm of corpus uteri, excluding isthmus (disorder) SNOMEDCT_2005_07_31:188189001 Leukemic reticuloendotheliosis involving intrathoracic lymph nodes Leukemic reticuloendotheliosis of intrathoracic lymph nodes (disorder) Leukemic reticuloendotheliosis of intrathoracic lymph nodes [dup] (disorder) disease_ontology DOID:12021 leukemic reticuloendotheliosis of intrathoracic lymph nodes true Leukemic reticuloendotheliosis involving intrathoracic lymph nodes ICD9CM_2006:202.42 Leukemic reticuloendotheliosis of intrathoracic lymph nodes (disorder) SNOMEDCT_2005_07_31:93146001 Leukemic reticuloendotheliosis of intrathoracic lymph nodes [dup] (disorder) SNOMEDCT_2005_07_31:188646001 spontaneous abortion, unspecified, complicated by genital tract and pelvic infection disease_ontology DOID:12022 spontaneous abortion complicated by genital tract and pelvic infectious disease true spontaneous abortion, unspecified, complicated by genital tract and pelvic infection ICD9CM_2006:634.00 An adrenal admenoma characterized by over production of aldosterone. ICD10CM:E26.0 ICD10CM:E26.01 ICD9CM:255.12 MESH:D006929 NCI:C34510 SNOMEDCT_US_2016_03_01:13536004 SNOMEDCT_US_2016_03_01:154709005 SNOMEDCT_US_2016_03_01:190506003 SNOMEDCT_US_2016_03_01:190507007 SNOMEDCT_US_2016_03_01:258117004 SNOMEDCT_US_2016_03_01:267484005 UMLS_CUI:C1384514 Conn syndrome primary aldosteronism primary hyperaldosteronism disease_ontology DOID:12028 Conn's syndrome An adrenal admenoma characterized by over production of aldosterone. url:http://en.wikipedia.org/wiki/Conn%27s_syndrome primary aldosteronism ICD9CM_2006:255.10 primary hyperaldosteronism NCI2004_11_17:C34510 ICD10CM:H44.13 ICD9CM:360.11 MESH:D009879 SNOMEDCT_US_2016_03_01:75315001 UMLS_CUI:C0029077 Sympathetic uveitis disease_ontology DOID:12029 sympathetic ophthalmia Sympathetic uveitis ICD9CM_2006:360.11 ICD9CM:292.8 ICD9CM:292.89 UMLS_CUI:C0154325 disease_ontology DOID:1203 drug-induced mental disorder ICD10CM:H44.11 ICD9CM:360.12 MESH:D015864 NCI:C84989 SNOMEDCT_US_2016_03_01:75614007 UMLS_CUI:C0030343 Diffuse uveitis disease_ontology DOID:12030 panuveitis Diffuse uveitis SNOMEDCT_2005_07_31:75614007 Arthropathy associated with a hypersensitivity reaction (disorder) Arthropathy associated with hypersensitivity reaction disease_ontology DOID:1204 arthropathy due to hypersensitivity reaction true Arthropathy associated with a hypersensitivity reaction (disorder) SNOMEDCT_2005_07_31:53338001 Arthropathy associated with hypersensitivity reaction ICD9CM_2006:713.6 Hydrops fetalis - due to isoim Hydrops fetalis due to isoimmunization Hydrops fetalis due to isoimmunization (disorder) Hydrops fetalis due to isoimmunization [dup] (disorder) disease_ontology DOID:12040 immune hydrops fetalis true Hydrops fetalis - due to isoim SNOMEDCT_2005_07_31:157134005 Hydrops fetalis - due to isoim SNOMEDCT_2005_07_31:268879006 Hydrops fetalis due to isoimmunization ICD9CM_2006:773.3 Hydrops fetalis due to isoimmunization (disorder) SNOMEDCT_2005_07_31:15539009 Hydrops fetalis due to isoimmunization [dup] (disorder) SNOMEDCT_2005_07_31:206432002 ICD10CM:P57.0 ICD9CM:773.4 NCI:C101270 SNOMEDCT_US_2016_03_01:157135006 SNOMEDCT_US_2016_03_01:206433007 SNOMEDCT_US_2016_03_01:268880009 SNOMEDCT_US_2016_03_01:359007 UMLS_CUI:C0270204 Kernicterus - due to isoimm. Kernicterus due to isoimmunization (disorder) Kernicterus due to isoimmunization [dup] (disorder) Kernicterus due to isoimmunization of fetus or newborn disease_ontology DOID:12043 kernicterus due to isoimmunization Kernicterus - due to isoimm. SNOMEDCT_2005_07_31:157135006 Kernicterus - due to isoimm. SNOMEDCT_2005_07_31:268880009 Kernicterus due to isoimmunization (disorder) SNOMEDCT_2005_07_31:359007 Kernicterus due to isoimmunization [dup] (disorder) SNOMEDCT_2005_07_31:206433007 Kernicterus due to isoimmunization of fetus or newborn ICD9CM_2006:773.4 An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods. ICD10CM:T78.40 MESH:D006967 NCI:C3114 SNOMEDCT_US_2016_03_01:106190000 SNOMEDCT_US_2016_03_01:127072000 SNOMEDCT_US_2016_03_01:157754004 SNOMEDCT_US_2016_03_01:157758001 SNOMEDCT_US_2016_03_01:212998004 SNOMEDCT_US_2016_03_01:212999007 SNOMEDCT_US_2016_03_01:21957007 SNOMEDCT_US_2016_03_01:257550005 SNOMEDCT_US_2016_03_01:269284003 SNOMEDCT_US_2016_03_01:269432007 SNOMEDCT_US_2016_03_01:274211000 SNOMEDCT_US_2016_03_01:282092005 SNOMEDCT_US_2016_03_01:418168000 SNOMEDCT_US_2016_03_01:418634005 SNOMEDCT_US_2016_03_01:418925002 SNOMEDCT_US_2016_03_01:421668005 SNOMEDCT_US_2016_03_01:421961002 SNOMEDCT_US_2016_03_01:91232002 UMLS_CUI:C0020517 allergic disease allergy hypersensitivity hypersensitivity reaction type I disease disease_ontology DOID:1205 allergic hypersensitivity disease An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods. ls:IEDB url:http://en.wikipedia.org/wiki/Allergy A cryptococcosis that results_in inflammation located_in meninges, has_material_basis_in Cryptococcus neoformans and has_symptom headache, has_symptom nausea, has_symptom staggering gait, has_symptom dementia, has_symptom blurred vision and has_symptom confusion. Cryptococcal meningitis Cryptococcal meningitis (disorder) disease_ontology DOID:12052 cryptococcal meningitis true A cryptococcosis that results_in inflammation located_in meninges, has_material_basis_in Cryptococcus neoformans and has_symptom headache, has_symptom nausea, has_symptom staggering gait, has_symptom dementia, has_symptom blurred vision and has_symptom confusion. url:http://en.wikipedia.org/wiki/Cryptococcosis url:http://www.accessmedicine.com/resourceTOC.aspx?resourceID=4 Cryptococcal meningitis ICD9CM_2006:321.0 Cryptococcal meningitis SNOMEDCT_2005_07_31:187092002 Cryptococcal meningitis (disorder) SNOMEDCT_2005_07_31:14232007 An opportunistic mycosis that results_in fungal infection and has_material_basis_in Cryptococcus neoformans or Cryptococcus gattii. ICD10CM:B45 ICD10CM:B45.9 ICD9CM:117.5 MESH:D003453 NCI:C2967 SNOMEDCT_US_2016_03_01:187090005 SNOMEDCT_US_2016_03_01:187097008 SNOMEDCT_US_2016_03_01:187494009 SNOMEDCT_US_2016_03_01:20850004 SNOMEDCT_US_2016_03_01:42386007 UMLS_CUI:C0010414 Busse-Buschke's disease European cryptococcosis cryptococcal infection torula torulosis disease_ontology cryptococcus neoformans infection DOID:12053 cryptococcosis An opportunistic mycosis that results_in fungal infection and has_material_basis_in Cryptococcus neoformans or Cryptococcus gattii. url:http://en.wikipedia.org/wiki/Cryptococcosis Busse-Buschke's disease SNOMEDCT_2005_07_31:20850004 European cryptococcosis MTHICD9_2006:117.5 torula CSP2005:1198-5059 torulosis CSP2005:1988-4587 A trypanosomiasis that involves inflammation of the meninges caused due to Trypanosoma species. Meningitis due to trypanosomiasis Trypanosomiasis with meningitis (disorder) trypanosomiasis with meningitis disease_ontology DOID:12054 Trypanosoma meningitis true A trypanosomiasis that involves inflammation of the meninges caused due to Trypanosoma species. url:http://www.tropicalmedandhygienejrnl.net/article/0035-9203%2895%2990637-1/abstract Meningitis due to trypanosomiasis ICD9CM_2006:321.3 Trypanosomiasis with meningitis (disorder) SNOMEDCT_2005_07_31:5566009 ICD10CM:D86.81 ICD9CM:321.4 SNOMEDCT_US_2016_03_01:192673008 UMLS_CUI:C0154648 Meningitis in sarcoidosis Sarcoid meningitis (disorder) disease_ontology DOID:12055 sarcoid meningitis Meningitis in sarcoidosis ICD9CM_2006:321.4 Sarcoid meningitis (disorder) SNOMEDCT_2005_07_31:192673008 Non-pyogenic meningitis (disorder) Nonpyogenic meningitis Nonpyogenic meningitis (disorder) disease_ontology DOID:12056 meningitis with clear cerebrospinal fluid true Non-pyogenic meningitis (disorder) SNOMEDCT_2005_07_31:192679007 Nonpyogenic meningitis ICD9CM_2006:322.0 Nonpyogenic meningitis (disorder) SNOMEDCT_2005_07_31:21468000 DOID:12059 Fetal-maternal hemorrhage, with delivery disease_ontology DOID:12058 Fetal-maternal hemorrhage affecting management of mother true A pervasive developmental disease that is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability. ICD10CM:F84.2 MESH:D015518 NCI:C75488 OMIM:312750 OMIM:613454 SNOMEDCT_US_2016_03_01:192583003 SNOMEDCT_US_2016_03_01:68618008 UMLS_CUI:C0035372 Rett's disorder cerebroatrophic hyperammonemia disease_ontology DOID:1206 OMIM mapping confirmed by DO. [SN]. Rett syndrome A pervasive developmental disease that is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability. url:http://www.nichd.nih.gov/health/topics/rett_syndrome.cfm url:http://www.ninds.nih.gov/disorders/rett/detail_rett.htm url:https://medlineplus.gov/ency/article/001536.htm Rett's disorder SNOMEDCT_2005_07_31:68618008 cerebroatrophic hyperammonemia CSP2005:4001-0114 Fetal blood loss (disorder) Fetal blood loss NOS (disorder) Fetal blood loss, unspecified (disorder) Fetal haemorrhage disease_ontology DOID:12061 fetal blood loss true Fetal blood loss (disorder) SNOMEDCT_2005_07_31:206390008 Fetal blood loss NOS (disorder) SNOMEDCT_2005_07_31:206394004 Fetal blood loss, unspecified (disorder) SNOMEDCT_2005_07_31:206391007 Fetal haemorrhage SNOMEDCT_2005_07_31:157124001 Fetal haemorrhage SNOMEDCT_2005_07_31:268877008 NCI:C6631 UMLS_CUI:C1334674 Neurofibroma of mediastinum disease_ontology DOID:12064 mediastinum neurofibroma Neurofibroma of mediastinum NCI2004_11_17:C6631 Ganglioneuroma of mediastinum disease_ontology DOID:12065 ganglioneuroma of the mediastinum true Ganglioneuroma of mediastinum NCI2004_11_17:C6632 DOID:11791 ICD10CM:K31.82 ICD9CM:537.84 UMLS_CUI:C1135229 Dieulafoy lesion (hemorrhagic) of intestine dieulafoy lesion (hemorrhagic) of stomach and duodenum disease_ontology DOID:12070 Dieulafoy lesion ICD9CM:537.81 SNOMEDCT_US_2016_03_01:335002 UMLS_CUI:C0152163 disease_ontology DOID:12072 pylorospasm disease_ontology DOID:12076 interstitial emphysema and related conditions of newborn true DOID:10502 DOID:11494 DOID:12080 DOID:12081 DOID:12083 DOID:2091 DOID:9424 ICD9CM:716.41 UMLS_CUI:C0158007 Transient arthropathy involving forearm Transient arthropathy involving hand Transient arthropathy involving lower leg Transient arthropathy involving multiple sites Transient arthropathy involving pelvic region and thigh Transient arthropathy involving shoulder region Transient arthropathy involving upper arm disease_ontology DOID:12084 transient arthropathy ICD10CM:H16.44 ICD9CM:370.63 SNOMEDCT_US_2016_03_01:2102007 UMLS_CUI:C0155095 Deep vascularization of cornea disease_ontology DOID:12087 deep corneal vascularisation Deep vascularization of cornea ICD9CM_2006:370.63 ICD10CM:H46.2 ICD9CM:377.33 SNOMEDCT_US_2016_03_01:82108004 UMLS_CUI:C0155302 Nutritional optic neuropathy (disorder) disease_ontology DOID:1209 nutritional optic neuropathy Nutritional optic neuropathy (disorder) SNOMEDCT_2005_07_31:82108004 vitamin A deficiency with corneal xerosis (disorder) disease_ontology DOID:12091 vitamin A deficiency with corneal xerosis true vitamin A deficiency with corneal xerosis (disorder) SNOMEDCT_2005_07_31:35516008 disease_ontology DOID:12092 Galactorrhea associated with childbirth true A primary bacterial infectious disease that results_in infection, has_material_basis_in Spirillum minus, which is transmitted_by contact with urine or secretions from the mouth, eye, or nose of an infected animal or transmitted_by bite of an infected animal, especially rat. The infection has_symptom chills, has_symptom relapsing fever, has_symptom rash and has_symptom joint pain. ICD10CM:A25.0 ICD9CM:026.0 MESH:D011906 SNOMEDCT_US_2016_03_01:19044004 UMLS_CUI:C0152062 Spirillary fever disease_ontology Spirillosis DOID:12096 sodoku disease A primary bacterial infectious disease that results_in infection, has_material_basis_in Spirillum minus, which is transmitted_by contact with urine or secretions from the mouth, eye, or nose of an infected animal or transmitted_by bite of an infected animal, especially rat. The infection has_symptom chills, has_symptom relapsing fever, has_symptom rash and has_symptom joint pain. url:http://en.wikipedia.org/wiki/Rat_bite_fever url:http://protmed.uoradea.ro/facultate/anale/protectia_mediului/2009/miscellaneous/06.Indries%20Mirela%202.pdf Spirillary fever ICD9CM_2006:026.0 Rat bite fever (disorder) Rat-bite fever Rat-bite fever NOS (disorder) Rat-bite fever, unspecified (disorder) Unspecified rat-bite fever disease_ontology DOID:12097 rat-bite fever true Rat bite fever (disorder) SNOMEDCT_2005_07_31:1685005 Rat-bite fever ICD9CM_2006:026 Rat-bite fever NOS (disorder) SNOMEDCT_2005_07_31:186313008 Rat-bite fever, unspecified (disorder) SNOMEDCT_2005_07_31:187307007 Unspecified rat-bite fever ICD9CM_2006:026.9 ICD10CM:G50.0 ICD9CM:350.1 MESH:D014277 OMIM:190400 SNOMEDCT_US_2016_03_01:155066002 SNOMEDCT_US_2016_03_01:193090007 SNOMEDCT_US_2016_03_01:31681005 SNOMEDCT_US_2016_03_01:322769008 UMLS_CUI:C0040997 Trifacial neuralgia Trigeminal neuralgia Trigeminal neuralgia (disorder) Trigeminal neuralgia NOS (disorder) Trigeminal neuralgia [no drugs here] (disorder) trifocal neuralgia disease_ontology DOID:12098 OMIM mapping confirmed by DO. [LS]. trigeminal neuralgia Trifacial neuralgia MTHICD9_2006:350.1 Trigeminal neuralgia ICD9CM_2006:350.1 Trigeminal neuralgia SNOMEDCT_2005_07_31:155066002 Trigeminal neuralgia (disorder) SNOMEDCT_2005_07_31:31681005 Trigeminal neuralgia NOS (disorder) SNOMEDCT_2005_07_31:193090007 Trigeminal neuralgia [no drugs here] (disorder) SNOMEDCT_2005_07_31:322769008 trifocal neuralgia CSP2005:2042-6701 MESH:D014623 NCI:C26910 SNOMEDCT_US_2016_03_01:156015000 SNOMEDCT_US_2016_03_01:156018003 SNOMEDCT_US_2016_03_01:25658005 SNOMEDCT_US_2016_03_01:266665005 SNOMEDCT_US_2016_03_01:286989007 UMLS_CUI:C0042251 disease_ontology DOID:121 vaginal disease An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision. ICD10CM:H46 ICD10CM:H46.9 ICD9CM:377.3 ICD9CM:377.30 MESH:D009902 NCI:C84950 SNOMEDCT_US_2016_03_01:155189007 SNOMEDCT_US_2016_03_01:194051001 SNOMEDCT_US_2016_03_01:194052008 SNOMEDCT_US_2016_03_01:194054009 SNOMEDCT_US_2016_03_01:267743006 SNOMEDCT_US_2016_03_01:66760008 UMLS_CUI:C0029134 disease_ontology DOID:1210 optic neuritis An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision. sn:IEDB vitamin A deficiency with corneal ulceration AND xerosis (disorder) vitamin A deficiency with corneal ulceration and xerosis vitamin A deficiency with corneal xerosis and ulcer (disorder) disease_ontology DOID:12104 vitamin A deficiency with corneal xerosis and ulcer true vitamin A deficiency with corneal ulceration AND xerosis (disorder) SNOMEDCT_2005_07_31:90653005 vitamin A deficiency with corneal ulceration and xerosis ICD9CM_2006:264.3 vitamin A deficiency with corneal xerosis and ulcer (disorder) SNOMEDCT_2005_07_31:190612001 ICD9CM:720.81 SNOMEDCT_US_2016_03_01:202652006 SNOMEDCT_US_2016_03_01:6963001 UMLS_CUI:C0021396 Inflammatory spondylopathies in disease EC (disorder) Inflammatory spondylopathies in disease classified elsewhere Inflammatory spondylopathy in disease classified elsewhere disease_ontology DOID:12105 inflammatory spondylopathy Inflammatory spondylopathies in disease EC (disorder) SNOMEDCT_2005_07_31:202652006 Inflammatory spondylopathies in disease classified elsewhere ICD9CM_2006:720.81 Inflammatory spondylopathy in disease classified elsewhere SNOMEDCT_2005_07_31:6963001 Syphilitic endocarditis of tricuspid valve (disorder) disease_ontology DOID:12106 tricuspid valve syphilitic endocarditis true Syphilitic endocarditis of tricuspid valve (disorder) SNOMEDCT_2005_07_31:186877007 primary retinal cyst (disorder) primary retinal cysts disease_ontology DOID:12107 primary retinal cyst true primary retinal cyst (disorder) SNOMEDCT_2005_07_31:28157000 primary retinal cysts ICD9CM_2006:361.13 ICD9CM:361.12 SNOMEDCT_US_2016_03_01:65545003 UMLS_CUI:C0344289 disease_ontology DOID:12108 bullous retinoschisis vitamin A deficiency with xerophthalmic corneal scars (disorder) vitamin A deficiency with xerophthalmic scars of cornea vitamin A deficiency with xerophthalmic scars of cornea (disorder) disease_ontology DOID:12111 vitamin A deficiency with xerophthalmic corneal scar true vitamin A deficiency with xerophthalmic corneal scars (disorder) SNOMEDCT_2005_07_31:190615004 vitamin A deficiency with xerophthalmic scars of cornea ICD9CM_2006:264.6 vitamin A deficiency with xerophthalmic scars of cornea (disorder) SNOMEDCT_2005_07_31:4715007 nerve conduction deafness neural hearing loss neural hearing loss (finding) disease_ontology DOID:12113 nerve deafness true nerve conduction deafness SNOMEDCT_2005_07_31:80695003 neural hearing loss ICD9CM_2006:389.12 neural hearing loss MTH:NOCODE neural hearing loss (finding) SNOMEDCT_2005_07_31:73371001 A commensal streptococcal infectious disease that involves infection of the pharynx and sometimes the larynx and tonsils. It is caused by Group A Streptococcus bacteria. The common symptoms include fever, sore throat, headache, stomach ache, nausea, or chills. Septic sore throat due to streptococcal infection Strept throat Streptococcal angina Streptococcal sore throat Streptococcal sore throat NOS (disorder) disease_ontology DOID:12115 streptococcal pharyngitis true A commensal streptococcal infectious disease that involves infection of the pharynx and sometimes the larynx and tonsils. It is caused by Group A Streptococcus bacteria. The common symptoms include fever, sore throat, headache, stomach ache, nausea, or chills. url:http://www.nlm.nih.gov/medlineplus/ency/article/000639.htm Septic sore throat due to streptococcal infection MTHICD9_2006:034.0 Strept throat SNOMEDCT_2005_07_31:43878008 Streptococcal angina SNOMEDCT_2005_07_31:186358002 Streptococcal sore throat ICD9CM_2006:034.0 Streptococcal sore throat SNOMEDCT_2005_07_31:154302004 Streptococcal sore throat NOS (disorder) SNOMEDCT_2005_07_31:186361001 ICD10CM:J84.02 ICD9CM:516.2 MESH:C562405 OMIM:265100 SNOMEDCT_US_2016_03_01:196160008 SNOMEDCT_US_2016_03_01:87153008 UMLS_CUI:C0155912 disease_ontology DOID:12117 OMIM mapping confirmed by DO. [SN]. pulmonary alveolar microlithiasis A lung disease with an unknown etiology affecting the lungs which results in bleeding from tiny alveolar capillaries. Examination of sputum and bronchoalveolar lavage fluid can disclose hemosiderin-laden alveolar macrophages (siderophages), and the lung biopsy shows numerous siderophages in the alveoli. Alveolar hemorrhage is characterized by hemoptysis, dyspnea, alveolar infiltrates on chest radiograph, and various degrees of anaemia. Following a bleeding episode, the alveolar macrophages convert the hemoglobin's iron into hemosiderin within 36-72h. DOID:0050330 ICD10CM:J84.03 ICD9CM:516.1 MESH:C536281 OMIM:178550 OMIM:235500 ORDO:99931 SNOMEDCT_US_2016_03_01:190848001 SNOMEDCT_US_2016_03_01:40527005 UMLS_CUI:C0020807 Idiopathic pulmonary hemosiderosis brown induration brown lung disease_ontology DOID:12118 pulmonary hemosiderosis A lung disease with an unknown etiology affecting the lungs which results in bleeding from tiny alveolar capillaries. Examination of sputum and bronchoalveolar lavage fluid can disclose hemosiderin-laden alveolar macrophages (siderophages), and the lung biopsy shows numerous siderophages in the alveoli. Alveolar hemorrhage is characterized by hemoptysis, dyspnea, alveolar infiltrates on chest radiograph, and various degrees of anaemia. Following a bleeding episode, the alveolar macrophages convert the hemoglobin's iron into hemosiderin within 36-72h. url:http://en.wikipedia.org/wiki/Brown_induration url:http://en.wikipedia.org/wiki/Idiopathic_pulmonary_haemosiderosis url:http://www.erj.ersjournals.com/cgi/content/full/24/1/162 Idiopathic pulmonary hemosiderosis ICD9CM_2006:516.1 brown lung CSP2005:2596-2097 An iron metabolism disease that has_material_basis_in an accumulation of hemosiderin, an iron-storage complex, resulting in iron overload. MESH:D006486 MESH:D019190 NCI:C82892 SNOMEDCT_US_2016_03_01:190849009 SNOMEDCT_US_2016_03_01:39011001 UMLS_CUI:C0019114 haemosiderosis disease_ontology DOID:12119 hemosiderosis An iron metabolism disease that has_material_basis_in an accumulation of hemosiderin, an iron-storage complex, resulting in iron overload. url:http://en.wikipedia.org/wiki/Hemosiderosis A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange. ICD10CM:J84.01 ICD9CM:516.0 MESH:D011649 NCI:C85037 OMIM:265120 OMIM:300770 OMIM:610913 OMIM:610921 OMIM:614370 ORDO:264675 SNOMEDCT_US_2016_03_01:10501004 UMLS_CUI:C0034050 disease_ontology DOID:12120 Xref MGI. pulmonary alveolar proteinosis A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange. url:http://en.wikipedia.org/wiki/Pulmonary_alveolar_proteinosis secondary syphilitic periostitis (disorder) disease_ontology DOID:12121 secondary syphilitic periostitis true secondary syphilitic periostitis (disorder) SNOMEDCT_2005_07_31:69595007 ICD10CM:J84.10 ICD9CM:515 SNOMEDCT_US_2016_03_01:196121006 SNOMEDCT_US_2016_03_01:266368002 SNOMEDCT_US_2016_03_01:57124002 UMLS_CUI:C0175999 Post-inflammatory pulmonary fibrosis Postinflammatory pulmonary fibrosis disease_ontology DOID:12123 postinflammatory pulmonary fibrosis Post-inflammatory pulmonary fibrosis SNOMEDCT_2005_07_31:266368002 Postinflammatory pulmonary fibrosis SNOMEDCT_2005_07_31:57124002 ICD10CM:H15.11 ICD9CM:379.01 SNOMEDCT_US_2016_03_01:194141004 SNOMEDCT_US_2016_03_01:31166000 UMLS_CUI:C0155351 disease_ontology DOID:12124 episcleritis periodica fugax ICD10CM:H16.23 ICD9CM:370.35 SNOMEDCT_US_2016_03_01:193777005 SNOMEDCT_US_2016_03_01:77080005 UMLS_CUI:C0155084 disease_ontology DOID:12125 neurotrophic keratoconjunctivitis An eating disorder that is characterized by an appetite for non-nutritive substances or food ingredients. ICD9CM:307.52 MESH:D010842 NCI:C92566 SNOMEDCT_US_2016_03_01:14077003 SNOMEDCT_US_2016_03_01:154938001 SNOMEDCT_US_2016_03_01:268779001 UMLS_CUI:C0031873 disease_ontology DOID:12128 pica disease An eating disorder that is characterized by an appetite for non-nutritive substances or food ingredients. url:http://en.wikipedia.org/wiki/Pica_%28disorder%29 An eating disorder characterized by the restraining of food intake for a period of time followed by an over intake or binging period that results in feelings of guilt and low self-esteem. ICD10CM:F50.2 MESH:D002032 NCI:C97162 OMIM:607499 OMIM:610269 SNOMEDCT_US_2016_03_01:192013000 SNOMEDCT_US_2016_03_01:192447005 SNOMEDCT_US_2016_03_01:206939001 SNOMEDCT_US_2016_03_01:78004001 UMLS_CUI:C0006370 hyperorexia nervosa disease_ontology DOID:12129 Xref MGI. bulimia nervosa An eating disorder characterized by the restraining of food intake for a period of time followed by an over intake or binging period that results in feelings of guilt and low self-esteem. url:http://en.wikipedia.org/wiki/Bulimia_nervosa hyperorexia nervosa SNOMEDCT_2005_07_31:192447005 Tympanosclerosis involving tympanic membrane AND ear ossicles (disorder) Tympanosclerosis involving tympanic membrane and ear ossicles disease_ontology DOID:1213 Tympanosclerosis of tympanic membrane and ossicles true Tympanosclerosis involving tympanic membrane AND ear ossicles (disorder) SNOMEDCT_2005_07_31:35100001 Tympanosclerosis involving tympanic membrane and ear ossicles ICD9CM_2006:385.02 An autoimmune disease that is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels. ICD10CM:M31.3 ICD10CM:M31.30 ICD9CM:446.4 MESH:D014890 NCI:C3444 OMIM:608710 SNOMEDCT_US_2016_03_01:155445002 SNOMEDCT_US_2016_03_01:195353004 SNOMEDCT_US_2016_03_01:23782005 SNOMEDCT_US_2016_03_01:239934006 SNOMEDCT_US_2016_03_01:266323005 SNOMEDCT_US_2016_03_01:390001000 UMLS_CUI:C3495801 Granulomatosis - Wegener's Necrotizing respiratory granulomatosis Wegener granulomatosis Wegener's syndrome (disorder) disease_ontology DOID:12132 Wegener's granulomatosis An autoimmune disease that is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels. url:http://en.wikipedia.org/wiki/Wegener%27s_granulomatosis Granulomatosis - Wegener's SNOMEDCT_2005_07_31:266323005 Necrotizing respiratory granulomatosis MTHICD9_2006:446.4 Wegener's syndrome (disorder) SNOMEDCT_2005_07_31:239934006 A Yersinia infectious disease that involves infection of the intestine caused by Yersinia enterocolitica. The symptoms include fever, abdominal pain, and diarrhea (often bloody in children). Infection by Yersinia enterocolitica (disorder) Yersinia enterocolitis infectious disease by Yersinia enterocolitica intestinal infection due to yersinia enterocolitica disease_ontology DOID:12133 Yersinia enterocolitica intestinal infectious disease true A Yersinia infectious disease that involves infection of the intestine caused by Yersinia enterocolitica. The symptoms include fever, abdominal pain, and diarrhea (often bloody in children). url:http://www.cdc.gov/ncidod/dbmd/diseaseinfo/yersinia_g.htm Infection by Yersinia enterocolitica (disorder) SNOMEDCT_2005_07_31:80960004 Yersinia enterocolitis SNOMEDCT_2005_07_31:186144006 intestinal infection due to yersinia enterocolitica ICD9CM_2006:008.44 An X-linked disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait. ICD10CM:D66 ICD9CM:286.0 MESH:D006467 NCI:C27146 OMIM:134500 SNOMEDCT_US_2016_03_01:28293008 UMLS_CUI:C0019069 Congenital factor VIII disorder Hemophilia A Subhemophilia disease_ontology DOID:12134 OMIM mapping confirmed by DO. [SN]. factor VIII deficiency An X-linked disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait. sn:IEDB url:http://en.wikipedia.org/wiki/Hemophilia_A Congenital factor VIII disorder ICD9CM_2006:286.0 Hemophilia A SNOMEDCT_2005_07_31:28293008 Subhemophilia MTHICD9_2006:286.0 acquired factor VIII deficiency disease (disorder) disease_ontology DOID:12135 acquired factor VIII deficiency true acquired factor VIII deficiency disease (disorder) SNOMEDCT_2005_07_31:14230004 acquired coagulation factor deficiency acquired coagulation factor deficiency (disorder) acquired coagulation factor deficiency NOS (disorder) disease_ontology DOID:12136 acquired coagulation factor deficiency true acquired coagulation factor deficiency ICD9CM_2006:286.7 acquired coagulation factor deficiency SNOMEDCT_2005_07_31:191295001 acquired coagulation factor deficiency (disorder) SNOMEDCT_2005_07_31:25904003 acquired coagulation factor deficiency NOS (disorder) SNOMEDCT_2005_07_31:191300004 A mood disorder that involves the presence of a low mood almost daily over a span of at least two years. ICD10CM:F34.1 ICD9CM:300.4 MESH:D019263 NCI:C34562 SNOMEDCT_US_2016_03_01:192384008 SNOMEDCT_US_2016_03_01:78667006 UMLS_CUI:C0013415 dysthymia disease_ontology DOID:12139 dysthymic disorder A mood disorder that involves the presence of a low mood almost daily over a span of at least two years. url:http://en.wikipedia.org/wiki/Mood_disorder dysthymia CSP2005:2483-6681 ICD9CM:385.09 SNOMEDCT_US_2016_03_01:111540000 UMLS_CUI:C0155477 disease_ontology DOID:1214 tympanosclerosis A trypanosomiasis that is a tropical parasitic disease caused by the flagellate protozoan Trypanosoma cruzi, which is transmitted to humans and other mammals by an insect vector, the blood-sucking assassin bugs of the subfamily Triatominae (family Reduviidae), most commonly species belonging to the Triatoma, Rhodnius, and Panstrongylus genera. The symptoms include fever, fatigue, body aches, headache, rash, loss of appetite, diarrhea, vomiting, swelling of the eyelids and myocarditis. DOID:0050016 DOID:0050019 DOID:0050020 ICD9CM:086.2 KEGG:05142 SNOMEDCT_US_2016_03_01:186817003 SNOMEDCT_US_2016_03_01:54570006 SNOMEDCT_US_2016_03_01:94371000119107 UMLS_CUI:C0007932 Chagas' disease chagas' disease with digestive system involvement chagas' disease with nervous system involvement chagas' disease with other organ involvement disease_ontology American trypanosomiasis DOID:12140 Chagas disease A trypanosomiasis that is a tropical parasitic disease caused by the flagellate protozoan Trypanosoma cruzi, which is transmitted to humans and other mammals by an insect vector, the blood-sucking assassin bugs of the subfamily Triatominae (family Reduviidae), most commonly species belonging to the Triatoma, Rhodnius, and Panstrongylus genera. The symptoms include fever, fatigue, body aches, headache, rash, loss of appetite, diarrhea, vomiting, swelling of the eyelids and myocarditis. url:http://en.wikipedia.org/wiki/Chagas_disease An adenovirus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7 and has_symptom fever, has_symptom headache, has_symptom stiff neck, and has_symptom confusion. disease_ontology non-arthropod-borne meningitis due to adenovirus DOID:12141 adenovirus meningitis true An adenovirus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7 and has_symptom fever, has_symptom headache, has_symptom stiff neck, and has_symptom confusion. url:http://emedicine.medscape.com/article/1168529-overview url:http://virology-online.com/viruses/Adenoviruses3.htm url:http://www.cdc.gov/meningitis/about/faq.html ICD9CM:596.54 MESH:D001750 NCI:C79696 SNOMEDCT_US_2016_03_01:155032006 SNOMEDCT_US_2016_03_01:192972000 SNOMEDCT_US_2016_03_01:197883004 SNOMEDCT_US_2016_03_01:23201000 SNOMEDCT_US_2016_03_01:397732007 SNOMEDCT_US_2016_03_01:398064005 UMLS_CUI:C0005697 Neuropathic bladder neurogenic dysfunction of the urinary bladder neurogenic urinary bladder disorder disease_ontology DOID:12143 neurogenic bladder Neuropathic bladder SNOMEDCT_2005_07_31:197883004 neurogenic dysfunction of the urinary bladder SNOMEDCT_2005_07_31:23201000 neurogenic urinary bladder disorder CSP2005:3045-9211 ICD9CM:596.52 SNOMEDCT_US_2016_03_01:9009001 UMLS_CUI:C0489967 Low bladder compliance hyperactivity of bladder hypertonic bladder hypertonicity of bladder disease_ontology DOID:12144 low compliance bladder Low bladder compliance ICD9CM_2006:596.52 hyperactivity of bladder MTHICD9_2006:596.51 hypertonic bladder SNOMEDCT_2005_07_31:314717001 hypertonicity of bladder ICD9CM_2006:596.51 ICD9CM:596.55 SNOMEDCT_US_2016_03_01:236655005 UMLS_CUI:C0341747 disease_ontology DOID:12145 detrusor sphincter dyssynergia An echinococcosis that is caused by the larvae of Echinococcus multilocularis affecting the liver as a slow growing, destructive tumor, with abdominal pain, biliary obstruction, and occasionally metastatic lesions into the lungs and brain. DOID:12147 DOID:2774 ICD10CM:B67.6 ICD10CM:B67.7 ICD9CM:122.7 SNOMEDCT_US_2016_03_01:21009004 SNOMEDCT_US_2016_03_01:240816000 UMLS_CUI:C0152069 Multilocular hydatid alveolococcosis small fox tapeworm disease_ontology echinococcus multilocularis infection DOID:12148 alveolar echinococcosis An echinococcosis that is caused by the larvae of Echinococcus multilocularis affecting the liver as a slow growing, destructive tumor, with abdominal pain, biliary obstruction, and occasionally metastatic lesions into the lungs and brain. url:http://en.wikipedia.org/wiki/Echinococcosis url:http://www.dpd.cdc.gov/dpdx/HTML/Echinococcosis.htm Multilocular hydatid SNOMEDCT_2005_07_31:240816000 Tympanosclerosis involving tympanic membrane only Tympanosclerosis involving tympanic membrane only (disorder) disease_ontology DOID:1215 Tympanosclerosis of tympanic membrane only true Tympanosclerosis involving tympanic membrane only ICD9CM_2006:385.01 Tympanosclerosis involving tympanic membrane only (disorder) SNOMEDCT_2005_07_31:35522004 Cholelithiasis AND acute cholecystitis with obstruction (disorder) gallbladder calculus with acute cholecystitis and obstruction (disorder) gallbladder calculus with acute cholecystitis and obstruction NOS (disorder) disease_ontology DOID:12150 calculus of gallbladder with acute cholecystitis, with obstruction true Cholelithiasis AND acute cholecystitis with obstruction (disorder) SNOMEDCT_2005_07_31:1123004 gallbladder calculus with acute cholecystitis and obstruction (disorder) SNOMEDCT_2005_07_31:197378004 gallbladder calculus with acute cholecystitis and obstruction NOS (disorder) SNOMEDCT_2005_07_31:197379007 disease_ontology DOID:12151 currently pregnant habitual aborter true A viral infectious disease that results_in infection located_in brain, or located_in meninges, or located_in brain and meninges, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom fever, has_symptom lack of appetite, has_symptom headache, has_symptom muscle aches, has_symptom malaise, has_symptom nausea, and has_symptom vomiting. DOID:10662 ICD10CM:A87.2 ICD9CM:049.0 MESH:D008216 SNOMEDCT_US_2016_03_01:186495001 SNOMEDCT_US_2016_03_01:192668002 SNOMEDCT_US_2016_03_01:276064006 SNOMEDCT_US_2016_03_01:276817007 SNOMEDCT_US_2016_03_01:38666007 SNOMEDCT_US_2016_03_01:397961002 SNOMEDCT_US_2016_03_01:398136003 UMLS_CUI:C0024266 UMLS_CUI:C0153014 LCM Lymphocytic choriomeningitis virus encephalomyelitis (disorder) Lymphocytic meningitis (disorder) Lymphocytic meningoencephalitis (disorder) disease_ontology DOID:12155 lymphocytic choriomeningitis A viral infectious disease that results_in infection located_in brain, or located_in meninges, or located_in brain and meninges, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom fever, has_symptom lack of appetite, has_symptom headache, has_symptom muscle aches, has_symptom malaise, has_symptom nausea, and has_symptom vomiting. url:http://en.wikipedia.org/wiki/Lymphocytic_choriomeningitis LCM CSP2005:2042-5332 Lymphocytic choriomeningitis virus encephalomyelitis (disorder) SNOMEDCT_2005_07_31:397961002 Lymphocytic meningitis (disorder) SNOMEDCT_2005_07_31:276064006 Lymphocytic meningoencephalitis (disorder) SNOMEDCT_2005_07_31:276817007 ICD10CM:G03 MESH:D001100 NCI:C37913 SNOMEDCT_US_2016_03_01:154986008 SNOMEDCT_US_2016_03_01:267681007 SNOMEDCT_US_2016_03_01:8217007 UMLS_CUI:C0003708 disease_ontology DOID:12156 arachnoiditis ICD10CM:G03.0 MESH:D008582 NCI:C118299 SNOMEDCT_US_2016_03_01:186490006 SNOMEDCT_US_2016_03_01:301770000 SNOMEDCT_US_2016_03_01:58170007 UMLS_CUI:C0025290 Aseptic meningitis Aseptic meningitis (disorder) acute aseptic meningitis disease_ontology DOID:12157 aseptic meningitis Aseptic meningitis SNOMEDCT_2005_07_31:186490006 Aseptic meningitis SNOMEDCT_2005_07_31:58170007 Aseptic meningitis (disorder) SNOMEDCT_2005_07_31:301770000 acute aseptic meningitis SNOMEDCT_2005_07_31:192672003 ICD10CM:H35.4 ICD10CM:H35.40 ICD9CM:362.6 ICD9CM:362.60 NCI:C34919 SNOMEDCT_US_2016_03_01:193393004 SNOMEDCT_US_2016_03_01:193394005 SNOMEDCT_US_2016_03_01:193398008 SNOMEDCT_US_2016_03_01:405721006 SNOMEDCT_US_2016_03_01:61536007 SNOMEDCT_US_2016_03_01:95704002 UMLS_CUI:C1320640 peripheral degeneration of retina disease_ontology DOID:12161 peripheral retinal degeneration peripheral degeneration of retina SNOMEDCT_2005_07_31:405721006 ICD10CM:H35.45 ICD9CM:362.65 SNOMEDCT_US_2016_03_01:35545005 UMLS_CUI:C0154858 secondary pigmentary degeneration of retina secondary pigmentary retinal degeneration disease_ontology DOID:12162 pseudoretinitis pigmentosa secondary pigmentary degeneration of retina ICD9CM_2006:362.65 secondary pigmentary retinal degeneration SNOMEDCT_2005_07_31:35545005 ICD9CM:362.64 SNOMEDCT_US_2016_03_01:193395006 SNOMEDCT_US_2016_03_01:54184008 UMLS_CUI:C0154857 Senile reticular degeneration of retina disease_ontology DOID:12163 senile reticular retinal degeneration Senile reticular degeneration of retina ICD9CM_2006:362.64 ICD10CM:H35.42 ICD9CM:362.62 SNOMEDCT_US_2016_03_01:37075008 UMLS_CUI:C0154855 Blessig cysts Iwanoff's cysts Microcystoid degeneration of retina Microcystoid retinal degeneration disease_ontology DOID:12164 Blessig's cysts Iwanoff's cysts MTHICD9_2006:362.62 Microcystoid degeneration of retina ICD9CM_2006:362.62 Microcystoid retinal degeneration SNOMEDCT_2005_07_31:37075008 ICD10CM:H35.41 ICD9CM:362.63 SNOMEDCT_US_2016_03_01:3577000 UMLS_CUI:C0154856 Palisade degeneration of retina disease_ontology DOID:12165 retinal lattice degeneration Palisade degeneration of retina ICD9CM_2006:362.63 ICD10CM:H35.43 ICD9CM:362.61 SNOMEDCT_US_2016_03_01:69134001 UMLS_CUI:C0154854 Paving stone degeneration of retina Paving stone retinal degeneration disease_ontology DOID:12166 cobblestone retinal degeneration Paving stone degeneration of retina ICD9CM_2006:362.61 Paving stone retinal degeneration SNOMEDCT_2005_07_31:69134001 ICD10CM:H35.46 ICD9CM:362.66 SNOMEDCT_US_2016_03_01:193397003 SNOMEDCT_US_2016_03_01:60676002 UMLS_CUI:C0154859 disease_ontology DOID:12167 secondary vitreoretinal degeneration ICD10CM:G56.2 ICD10CM:G56.20 ICD9CM:354.2 SNOMEDCT_US_2016_03_01:193132000 SNOMEDCT_US_2016_03_01:193136002 SNOMEDCT_US_2016_03_01:267599007 SNOMEDCT_US_2016_03_01:298121002 SNOMEDCT_US_2016_03_01:359834003 SNOMEDCT_US_2016_03_01:367475009 SNOMEDCT_US_2016_03_01:55802003 UMLS_CUI:C1288279 Lesion of ulnar nerve disease_ontology DOID:12168 ulnar nerve lesion Lesion of ulnar nerve ICD9CM_2006:354.2 ICD10CM:G56.0 ICD10CM:G56.00 ICD9CM:354.0 MESH:D002349 NCI:C34450 OMIM:115430 SNOMEDCT_US_2016_03_01:155073007 SNOMEDCT_US_2016_03_01:193126005 SNOMEDCT_US_2016_03_01:246611002 SNOMEDCT_US_2016_03_01:57406009 UMLS_CUI:C0007286 CTS - Carpal tunnel syndrome Carpal tunnel syndrome Carpal tunnel syndrome (disorder) Median nerve entrapment Median nerve entrapment (disorder) carpal tunnel median neuropathy disease_ontology DOID:12169 OMIM mapping confirmed by DO. [SN]. carpal tunnel syndrome CTS - Carpal tunnel syndrome SNOMEDCT_2005_07_31:193126005 Carpal tunnel syndrome ICD9CM_2006:354.0 Carpal tunnel syndrome SNOMEDCT_2005_07_31:155073007 Carpal tunnel syndrome (disorder) SNOMEDCT_2005_07_31:57406009 Median nerve entrapment MTHICD9_2006:354.0 Median nerve entrapment (disorder) SNOMEDCT_2005_07_31:246611002 carpal tunnel median neuropathy CSP2005:2042-6577 A parasitic helminthiasis infectious disease that involves parasitic infection of the liver of a variety of wild and domestic ruminants by Fascioloides magna. MESH:D005213 SNOMEDCT_US_2016_03_01:69550000 UMLS_CUI:C0015655 disease_ontology DOID:1217 fascioloidiasis A parasitic helminthiasis infectious disease that involves parasitic infection of the liver of a variety of wild and domestic ruminants by Fascioloides magna. url:http://en.wikipedia.org/wiki/Fascioloides_magna url:http://www.michigan.gov/dnr/1,1607,7-153-10370_12150_12220-26639--,00.html ICD10CM:G56.3 ICD10CM:G56.30 ICD9CM:354.3 MESH:D020425 SNOMEDCT_US_2016_03_01:16644004 SNOMEDCT_US_2016_03_01:193137006 SNOMEDCT_US_2016_03_01:193140006 UMLS_CUI:C0154744 Lesion of radial nerve Lesion of radial nerve, NOS Radial nerve lesion NOS (disorder) Radial nerve lesions (disorder) disease_ontology DOID:12170 radial nerve lesion Lesion of radial nerve ICD9CM_2006:354.3 Lesion of radial nerve, NOS SNOMEDCT_2005_07_31:16644004 Radial nerve lesion NOS (disorder) SNOMEDCT_2005_07_31:193140006 Radial nerve lesions (disorder) SNOMEDCT_2005_07_31:193137006 MESH:D020425 SNOMEDCT_US_2016_03_01:16644004 UMLS_CUI:C0748226 Radial neuropathy (disorder) disease_ontology DOID:12171 radial neuropathy Radial neuropathy (disorder) SNOMEDCT_2005_07_31:16644004 ICD10CM:E07.1 ICD9CM:246.1 SNOMEDCT_US_2016_03_01:190304001 UMLS_CUI:C0152077 Dyshormonogenic goiter (disorder) disease_ontology DOID:12175 dyshormonogenic goiter Dyshormonogenic goiter (disorder) SNOMEDCT_2005_07_31:190304001 A thyroid gland disease that involves an abnormal enlargement of the thyroid gland. ICD10CM:E04.9 ICD9CM:240.9 MESH:D006042 NCI:C26785 SNOMEDCT_US_2016_03_01:190232008 SNOMEDCT_US_2016_03_01:190235005 SNOMEDCT_US_2016_03_01:237568003 SNOMEDCT_US_2016_03_01:267370001 SNOMEDCT_US_2016_03_01:3716002 UMLS_CUI:C0018021 goitre disease_ontology DOID:12176 goiter A thyroid gland disease that involves an abnormal enlargement of the thyroid gland. url:http://www.thyroid.org/patients/patient_brochures/goiter.html A hypogammaglobulinemia that is results in insufficient production of antibodies needed to respond to exposure of pathogens and is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells. Patients with common variable immunodeficiency have marked reduction in serum levels of both immunoglobulin G (IgG) and immunoglobulin A (IgA); about half of these patients also have reduced immunoglobulin M (IgM). ICD10CM:D83 ICD10CM:D83.9 ICD9CM:279.06 MESH:D017074 OMIM:240500 OMIM:607594 OMIM:613493 OMIM:613494 OMIM:613495 OMIM:613496 OMIM:614699 OMIM:614700 OMIM:615577 OMIM:615767 ORDO:1572 SNOMEDCT_US_2016_03_01:191010004 SNOMEDCT_US_2016_03_01:23238000 UMLS_CUI:C0009447 CVID acquired agammaglobulinemia acquired hypogammaglobulinemia common variable agammaglobulinemia sporadic hypogammaglobulinemia disease_ontology DOID:12177 Xref MGI. OMIM mapping confirmed by DO. [SN]. common variable immunodeficiency A hypogammaglobulinemia that is results in insufficient production of antibodies needed to respond to exposure of pathogens and is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells. Patients with common variable immunodeficiency have marked reduction in serum levels of both immunoglobulin G (IgG) and immunoglobulin A (IgA); about half of these patients also have reduced immunoglobulin M (IgM). url:http://emedicine.medscape.com/article/885935-overview url:http://en.wikipedia.org/wiki/Common_variable_immunodeficiency url:http://www.immunedisease.com/patients-and-families/about-pi/types-of-pi/common-variable-immunodeficiency-cvid.html url:http://www.merck.com/mmpe/sec13/ch164/ch164g.html acquired agammaglobulinemia NCI2004_11_17:C26725 sporadic hypogammaglobulinemia MTHICD9_2006:279.06 A dermatophytosis that results_in fungal infection located_in skin, limited to the stratum corneum of the epidermis, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, and has_symptom red colored skin rash. The border of the rash lesions look scaly. ICD9CM:110.5 SNOMEDCT_US_2016_03_01:186994008 SNOMEDCT_US_2016_03_01:266151007 SNOMEDCT_US_2016_03_01:84849002 UMLS_CUI:C0546826 Dermatophytosis of the body (disorder) Dermatophytosis of the trunk dermatophytosis of the body disease_ontology DOID:12179 tinea corporis A dermatophytosis that results_in fungal infection located_in skin, limited to the stratum corneum of the epidermis, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, and has_symptom red colored skin rash. The border of the rash lesions look scaly. url:http://www.doctorfungus.org/mycoses/human/other/TineaCorporis_Cruris_Pedis.htm#TineaPedis url:http://www.nlm.nih.gov/medlineplus/ency/article/000877.htm Dermatophytosis of the body (disorder) SNOMEDCT_2005_07_31:266151007 Dermatophytosis of the trunk SNOMEDCT_2005_07_31:84849002 A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Echinostoma species. The symptoms include nausea, vomiting, diarrhea, fever and abdominal pain. ICD10CM:B66.8 MESH:D004451 SNOMEDCT_US_2016_03_01:36607007 SNOMEDCT_US_2016_03_01:52918004 UMLS_CUI:C0013514 Infection by Echinochasmus disease_ontology DOID:1218 echinostomiasis A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Echinostoma species. The symptoms include nausea, vomiting, diarrhea, fever and abdominal pain. url:http://www.dpd.cdc.gov/dpdx/HTML/Echinostomiasis.htm Infection by Echinochasmus SNOMEDCT_2005_07_31:52918004 fetal macrosomia disease_ontology DOID:12180 Fetal Macrosomia true fetal macrosomia CSP2005:2403-8925 An otitis interna characterized by an abnormal bone growth in the middle ear. EFO:0004213 ICD10CM:H80.8 ICD10CM:H80.80 ICD9CM:387.8 OMIM:166800 OMIM:605727 OMIM:608244 OMIM:608484 OMIM:611571 OMIM:611572 OMIM:612096 OMIM:615589 ORDO:2794 SNOMEDCT_US_2016_03_01:194382008 SNOMEDCT_US_2016_03_01:194691004 UMLS_CUI:C0029696 disease_ontology DOID:12185 Xref MGI. otosclerosis An otitis interna characterized by an abnormal bone growth in the middle ear. url:http://en.wikipedia.org/wiki/Otosclerosis url:http://www.merckmanuals.com/professional/ear_nose_and_throat_disorders/middle_ear_and_tympanic_membrane_disorders/otosclerosis.html?qt=otosclerosis&alt=sh disease_ontology DOID:12189 metastatic tumor to the colon true A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Dicrocoelium dendriticum. The symptoms include cholecystitis, liver abscesses and upper abdominal pain. ICD10CM:B66.2 MESH:D004011 SNOMEDCT_US_2016_03_01:8410006 UMLS_CUI:C0012102 disease due to Dicrocoeliidae disease_ontology DOID:1219 dicrocoeliasis A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Dicrocoelium dendriticum. The symptoms include cholecystitis, liver abscesses and upper abdominal pain. url:http://www.dpd.cdc.gov/dpdx/HTML/Dicrocoeliasis.htm disease due to Dicrocoeliidae SNOMEDCT_2005_07_31:105668007 ICD10CM:C18.6 ICD9CM:153.2 SNOMEDCT_US_2016_03_01:154457003 SNOMEDCT_US_2016_03_01:269536008 SNOMEDCT_US_2016_03_01:363409003 SNOMEDCT_US_2016_03_01:93771007 UMLS_CUI:C0153435 Ca descending colon Ca descending colon (disorder) malignant neoplasm of left colon malignant tumor of descending colon (disorder) disease_ontology DOID:12190 descending colon cancer Ca descending colon SNOMEDCT_2005_07_31:154457003 Ca descending colon (disorder) SNOMEDCT_2005_07_31:269536008 malignant neoplasm of left colon MTHICD9_2006:153.2 malignant tumor of descending colon (disorder) SNOMEDCT_2005_07_31:363409003 ICD10CM:C18.5 ICD9CM:153.7 SNOMEDCT_US_2016_03_01:154461009 SNOMEDCT_US_2016_03_01:269540004 SNOMEDCT_US_2016_03_01:363413005 SNOMEDCT_US_2016_03_01:94072004 UMLS_CUI:C0153440 Ca splenic flexure - colon Ca splenic flexure - colon (disorder) malignant neoplasm of splenic flexure malignant tumor of splenic flexure (disorder) disease_ontology DOID:12191 splenic flexure cancer Ca splenic flexure - colon SNOMEDCT_2005_07_31:154461009 Ca splenic flexure - colon (disorder) SNOMEDCT_2005_07_31:269540004 malignant neoplasm of splenic flexure ICD9CM_2006:153.7 malignant tumor of splenic flexure (disorder) SNOMEDCT_2005_07_31:363413005 ICD10CM:C18.7 ICD9CM:153.3 SNOMEDCT_US_2016_03_01:154458008 SNOMEDCT_US_2016_03_01:269537004 SNOMEDCT_US_2016_03_01:363410008 SNOMEDCT_US_2016_03_01:94006002 UMLS_CUI:C0153436 Ca sigmoid colon Ca sigmoid colon (disorder) malignant tumor of sigmoid colon (disorder) disease_ontology DOID:12192 sigmoid colon cancer Ca sigmoid colon SNOMEDCT_2005_07_31:154458008 Ca sigmoid colon (disorder) SNOMEDCT_2005_07_31:269537004 malignant tumor of sigmoid colon (disorder) SNOMEDCT_2005_07_31:363410008 ICD10CM:H16.10 ICD9CM:370.20 SNOMEDCT_US_2016_03_01:193766004 SNOMEDCT_US_2016_03_01:27019000 UMLS_CUI:C0155074 disease_ontology DOID:12196 superficial keratitis ICD10CM:H16.14 ICD9CM:370.21 SNOMEDCT_US_2016_03_01:193767008 SNOMEDCT_US_2016_03_01:267634006 SNOMEDCT_US_2016_03_01:416069001 SNOMEDCT_US_2016_03_01:42513006 UMLS_CUI:C0259799 Punctate keratitis Thygeson superficial punctate keratitis Thygeson's superficial punctate keratitis disease_ontology DOID:12197 punctate epithelial keratoconjunctivitis Punctate keratitis ICD9CM_2006:370.21 Thygeson superficial punctate keratitis SNOMEDCT_2005_07_31:416069001 Thygeson's superficial punctate keratitis SNOMEDCT_2005_07_31:193767008 A cancer by anatomical entitiy that affects the organs in the abdominal cavity. abdomen neoplasm abdominal neoplasm neoplasm of abdomen (disorder) tumor of abdomen (disorder) disease_ontology DOID:122 abdominal cancer true A cancer by anatomical entitiy that affects the organs in the abdominal cavity. url:http://www.wrongdiagnosis.com/a/abdominal_cancer/intro.htm abdomen neoplasm CSP2005:2005-4146 abdominal neoplasm MTH:003 neoplasm of abdomen (disorder) SNOMEDCT_2005_07_31:128050000 tumor of abdomen (disorder) SNOMEDCT_2005_07_31:255060007 Catatonic schizophrenia in remission (disorder) Catatonic type schizophrenia, in remission disease_ontology DOID:12204 catatonic schizophrenia in remission true Catatonic schizophrenia in remission (disorder) SNOMEDCT_2005_07_31:111483008 Catatonic type schizophrenia, in remission ICD9CM_2006:295.25 A viral infectious disease that results_in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom severe headache, has_symptom severe pain behind the eyes, has_symptom joint pain, has_symptom muscle and bone pain, has_symptom rash, and has_symptom mild bleeding. DOID:0050142 ICD10CM:A90 ICD9CM:061 MESH:D003715 NCI:C34528 SNOMEDCT_US_2016_03_01:154345006 SNOMEDCT_US_2016_03_01:266194002 SNOMEDCT_US_2016_03_01:38362002 UMLS_CUI:C0011311 Dengue Fever breakbone fever classic dengue disease_ontology classical dengue DOID:12205 dengue disease A viral infectious disease that results_in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom severe headache, has_symptom severe pain behind the eyes, has_symptom joint pain, has_symptom muscle and bone pain, has_symptom rash, and has_symptom mild bleeding. url:http://www.cdc.gov/dengue/fAQFacts/index.htm url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=dengue Dengue Fever NCI2004_11_17:C34528 breakbone fever CSP2005:3100-2165 A dengue disease that occurs when a person experiences a second infection with a heterologous Dengue virus serotype, which is transmitted_by Aedes mosquito bite. The infection has_symptom hemorrhagic lesions of the skin, has_symptom thrombocytopenia, has_symptom reduction in the fluid part of the blood, and has_symptom high fever. ICD10CM:A91 MESH:D019595 NCI:C34683 SNOMEDCT_US_2016_03_01:186598001 SNOMEDCT_US_2016_03_01:186599009 SNOMEDCT_US_2016_03_01:20927009 UMLS_CUI:C0019100 DHF disease_ontology Dengue haemorrhagic fever DOID:12206 dengue hemorrhagic fever A dengue disease that occurs when a person experiences a second infection with a heterologous Dengue virus serotype, which is transmitted_by Aedes mosquito bite. The infection has_symptom hemorrhagic lesions of the skin, has_symptom thrombocytopenia, has_symptom reduction in the fluid part of the blood, and has_symptom high fever. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC88892/pdf/cm000480.pdf url:http://www.nlm.nih.gov/MEDLINEPLUS/ency/article/001373.htm url:http://www.who.int/mediacentre/factsheets/fs117/en/ url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=dengue%20hemorrhagic%20fever Dengue haemorrhagic fever SNOMEDCT_2005_07_31:186598001 A pulmonary tuberculosis that is characterized by filling of airspaces with fluid, inflammatory exudates (pus, proteins and immunological substances) or cells (malignant cells and red blood cells) in a region of the lung. disease_ontology DOID:1221 infiltrative lung tuberculosis true A pulmonary tuberculosis that is characterized by filling of airspaces with fluid, inflammatory exudates (pus, proteins and immunological substances) or cells (malignant cells and red blood cells) in a region of the lung. url:http://www.aic.cuhk.edu.hk/web8/Very%20BASIC%20CXR%20lungs.htm A filarial elephantiasis that involves parasitic infection of the lymphatic system by a filarial worm Wuchereria bancrofti, which is transmitted by mosquitoes. The symptoms include lymphedema, fever, chills, skin infections, painful lymph nodes, orchitis and epididymitis. Bancroftian filariasis Infection by Wuchereria bancrofti (disorder) Infection due to Wuchereria bancrofti Wuchereria bancrofti infectious disease disease_ontology DOID:12210 Wuchereria bancrofti filariasis true A filarial elephantiasis that involves parasitic infection of the lymphatic system by a filarial worm Wuchereria bancrofti, which is transmitted by mosquitoes. The symptoms include lymphedema, fever, chills, skin infections, painful lymph nodes, orchitis and epididymitis. url:http://en.wikipedia.org/wiki/Wuchereria_bancrofti Bancroftian filariasis ICD9CM_2006:125.0 Infection by Wuchereria bancrofti (disorder) SNOMEDCT_2005_07_31:77947001 Infection due to Wuchereria bancrofti MTHICD9_2006:125.0 A filariasis that is characterized by the thickening of the skin and underlying tissues, especially in the legs, male genitals and female breasts, caused by thread-like parasitic worms Wuchereria bancrofti, Brugia malayi or Brugia timori, which inhabit the lymphatics. These nematodes are transmitted by mosquitoes. Acute symptoms include fever, lymphadenitis, lymphangitis, funiculitis, and epididymitis. Chronic symptoms include abscesses, hyperkeratosis, polyarthritis, hydroceles, lymphedema, and elephantiasis. DOID:13433 ICD10CM:B74.0 MESH:D004605 SNOMEDCT_US_2016_03_01:240820001 SNOMEDCT_US_2016_03_01:240825006 SNOMEDCT_US_2016_03_01:91586009 UMLS_CUI:C0013884 Bancroftian elephantiasis (disorder) Bancroftian filarial chyluria Elephantiasis of eyelid (disorder) Lymphatic filariasis (disorder) elephantiasis of eyelid disease_ontology DOID:12211 filarial elephantiasis A filariasis that is characterized by the thickening of the skin and underlying tissues, especially in the legs, male genitals and female breasts, caused by thread-like parasitic worms Wuchereria bancrofti, Brugia malayi or Brugia timori, which inhabit the lymphatics. These nematodes are transmitted by mosquitoes. Acute symptoms include fever, lymphadenitis, lymphangitis, funiculitis, and epididymitis. Chronic symptoms include abscesses, hyperkeratosis, polyarthritis, hydroceles, lymphedema, and elephantiasis. url:http://www.who.int/mediacentre/factsheets/fs102/en/ Bancroftian elephantiasis (disorder) SNOMEDCT_2005_07_31:91586009 Bancroftian filarial chyluria SNOMEDCT_2005_07_31:240825006 Elephantiasis of eyelid (disorder) SNOMEDCT_2005_07_31:14100003 Lymphatic filariasis (disorder) SNOMEDCT_2005_07_31:240820001 A placenta disease that is characterized by a deficiency of amniotic fluid sometimes resulting in an embryonic defect through adherence between embryo and amnion. DOID:12595 DOID:12596 ICD10CM:O41.0 ICD10CM:O41.00 ICD9CM:658.0 MESH:D016104 NCI:C92839 SNOMEDCT_US_2016_03_01:156190009 SNOMEDCT_US_2016_03_01:157051001 SNOMEDCT_US_2016_03_01:199652007 SNOMEDCT_US_2016_03_01:199656005 SNOMEDCT_US_2016_03_01:59566000 UMLS_CUI:C0079924 Oligohydramnios - delivered antepartum oligohydramnios delivered oligohydramnios disease_ontology DOID:12215 oligohydramnios A placenta disease that is characterized by a deficiency of amniotic fluid sometimes resulting in an embryonic defect through adherence between embryo and amnion. url:http://www.merriam-webster.com/medlineplus/oligohydramnios Oligohydramnios - delivered SNOMEDCT_2005_07_31:199653002 A dementia and a synucleinopathy that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities. ICD10CM:G31.83 ICD9CM:331.82 MESH:D020961 NCI:C84826 OMIM:127750 SNOMEDCT_US_2016_03_01:192808003 SNOMEDCT_US_2016_03_01:230275004 SNOMEDCT_US_2016_03_01:230276003 SNOMEDCT_US_2016_03_01:230277007 SNOMEDCT_US_2016_03_01:312991009 SNOMEDCT_US_2016_03_01:80098002 UMLS_CUI:C0752347 Dementia with Lewy bodies Diffuse Lewy body disease (disorder) Lewy body disease Senile dementia of the Lewy body type (disorder) disease_ontology DOID:12217 OMIM mapping confirmed by DO. [SN]. Lewy body dementia A dementia and a synucleinopathy that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities. url:http://en.wikipedia.org/wiki/Dementia_with_Lewy_bodies url:http://www.mayoclinic.org/diseases-conditions/lewy-body-dementia/basics/definition/CON-20025038 Dementia with Lewy bodies ICD9CM_2006:331.82 Diffuse Lewy body disease (disorder) SNOMEDCT_2005_07_31:80098002 Lewy body disease SNOMEDCT_2005_07_31:230277007 Senile dementia of the Lewy body type (disorder) SNOMEDCT_2005_07_31:312991009 ICD10CM:M91-M94 ICD10CM:M94.9 MESH:D002357 SNOMEDCT_US_2016_03_01:203526003 SNOMEDCT_US_2016_03_01:203908009 SNOMEDCT_US_2016_03_01:203914002 SNOMEDCT_US_2016_03_01:268062001 SNOMEDCT_US_2016_03_01:268126004 SNOMEDCT_US_2016_03_01:308148004 SNOMEDCT_US_2016_03_01:367355001 SNOMEDCT_US_2016_03_01:50927007 UMLS_CUI:C0007302 Cartilage disorder Chondropathy disease_ontology DOID:1222 cartilage disease Cartilage disorder SNOMEDCT_2005_07_31:268062001 Chondropathy SNOMEDCT_2005_07_31:367355001 Synovial, tendon or bursa disorder NOS (disorder) Unspecified disorder of synovium, tendon, and bursa disease_ontology DOID:12221 Synovial, tendon or bursa disorder true Synovial, tendon or bursa disorder NOS (disorder) SNOMEDCT_2005_07_31:203006006 Unspecified disorder of synovium, tendon, and bursa ICD9CM_2006:727.9 ICD9CM:727.2 SNOMEDCT_US_2016_03_01:42812006 UMLS_CUI:C0158332 Specific bursitides often of occupational origin Specific bursitis often of occupational origin (disorder) disease_ontology DOID:12223 specific bursitis often of occupational origin Specific bursitides often of occupational origin ICD9CM_2006:727.2 Specific bursitis often of occupational origin (disorder) SNOMEDCT_2005_07_31:42812006 disease_ontology DOID:12224 calcium deposits in tendon and bursa true ICD10CM:M67.5 ICD9CM:727.83 UMLS_CUI:C0878705 disease_ontology DOID:12225 Plica syndrome Auditory dysfunction (disorder) Hearing disorder Hearing disorder (finding) Hearing problem (finding) disorder of auditory system (disorder) hearing disorder disease_ontology DOID:12226 hearing disease true Auditory dysfunction (disorder) SNOMEDCT_2005_07_31:362989003 Hearing disorder NCI2004_11_17:C3078 Hearing disorder (finding) SNOMEDCT_2005_07_31:128540005 Hearing problem (finding) SNOMEDCT_2005_07_31:300228004 disorder of auditory system (disorder) SNOMEDCT_2005_07_31:362966006 hearing disorder CSP2005:0977-5687 secondary malignant neoplasm of large intestine and rectum (disorder) secondary malignant neoplasm of large intestine or rectum NOS (disorder) disease_ontology DOID:12228 secondary malignant neoplasm of large intestine and rectum true secondary malignant neoplasm of large intestine and rectum (disorder) SNOMEDCT_2005_07_31:188440001 secondary malignant neoplasm of large intestine or rectum NOS (disorder) SNOMEDCT_2005_07_31:188444005 ICD10CM:K31.2 ICD9CM:537.6 SNOMEDCT_US_2016_03_01:54051005 UMLS_CUI:C0267183 Hourglass stricture or stenosis of stomach disease_ontology DOID:12234 cascade stomach Hourglass stricture or stenosis of stomach ICD9CM_2006:537.6 A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts. DOID:1851 EFO:0004267 ICD10CM:K74.3 ICD10CM:K74.5 ICD9CM:571.6 MESH:D008105 NCI:C27167 NCI:C51225 OMIM:109720 OMIM:613007 OMIM:613008 OMIM:614220 OMIM:614221 ORDO:186 SNOMEDCT_US_2016_03_01:155815006 SNOMEDCT_US_2016_03_01:1761006 SNOMEDCT_US_2016_03_01:197311004 SNOMEDCT_US_2016_03_01:266540000 SNOMEDCT_US_2016_03_01:31712002 UMLS_CUI:C0008312 UMLS_CUI:C0023892 biliary liver cirrhosis cholestatic cirrhosis chronic nonsuppurative destructive cholangitis disease_ontology DOID:12236 Xref MGI. OMIM mapping confirmed by DO. [SN]. primary biliary cirrhosis A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts. url:http://en.wikipedia.org/wiki/Primary_biliary_cirrhosis url:http://www.merckmanuals.com/professional/hepatic_and_biliary_disorders/fibrosis_and_cirrhosis/primary_biliary_cirrhosis_pbc.html?qt=primary%20biliary%20cirrhosis&alt=sh chronic nonsuppurative destructive cholangitis SNOMEDCT_2005_07_31:1761006 MESH:D001655 UMLS_CUI:C0005403 disease_ontology DOID:12237 bile reflux ICD10CM:C44.520 NCI:C6925 SNOMEDCT_US_2016_03_01:255084004 UMLS_CUI:C1412037 Perianal skin squamous cell carcinoma squamous cell carcinoma of anal margin (disorder) disease_ontology squamous cell carcinoma of anal margin DOID:12239 anal margin squamous cell carcinoma Perianal skin squamous cell carcinoma NCI2004_11_17:C6925 squamous cell carcinoma of anal margin (disorder) SNOMEDCT_2005_07_31:255084004 A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin. ICD10CM:D56.1 ICD9CM:282.44 MESH:D017086 NCI:C34375 OMIM:187550 OMIM:603902 OMIM:613985 ORDO:848 SNOMEDCT_US_2016_03_01:191190000 SNOMEDCT_US_2016_03_01:65959000 UMLS_CUI:C0005283 disease_ontology DOID:12241 Xref MGI. OMIM mapping confirmed by DO. [SN]. beta thalassemia A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin. url:http://en.wikipedia.org/wiki/Beta_thalassemia A histoplasmosis endocarditis that results_in inflammation located_in endocardium, has_material_basis_in Histoplasma capsulatum var duboisii or has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom murmurs, has_symptom peripheral edema, has_symptom pulmonary rales, has_symptom petechia and has_symptom skin lesions. Histoplasma capsulatum endocarditis Histoplasma capsulatum with endocarditis (disorder) Histoplasmosis with endocarditis (disorder) disease_ontology DOID:12245 histoplasmosis endocarditis true A histoplasmosis endocarditis that results_in inflammation located_in endocardium, has_material_basis_in Histoplasma capsulatum var duboisii or has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom murmurs, has_symptom peripheral edema, has_symptom pulmonary rales, has_symptom petechia and has_symptom skin lesions. url:http://emedicine.medscape.com/article/299054-overview Histoplasma capsulatum endocarditis ICD9CM_2006:115.04 Histoplasma capsulatum with endocarditis (disorder) SNOMEDCT_2005_07_31:187041005 Histoplasmosis with endocarditis (disorder) SNOMEDCT_2005_07_31:187060003 ICD9CM:115.91 SNOMEDCT_US_2016_03_01:187057005 UMLS_CUI:C0153277 Histoplasmosis with meningitis disease_ontology DOID:12246 histoplasmosis meningitis Histoplasmosis with meningitis SNOMEDCT_2005_07_31:187057005 Aldosterone deficiency (disorder) hypoaldosteronism disease_ontology DOID:12251 hypoaldosteronism true Aldosterone deficiency (disorder) SNOMEDCT_2005_07_31:60086000 hypoaldosteronism CSP2005:0060-4670 An adrenal gland hyperfunction that is caused by overactivity of the adrenal cortex caused by a tumor of the pituitary gland. ICD10CM:E24 ICD10CM:E24.9 ICD9CM:255.0 MESH:D003480 NCI:C2969 SNOMEDCT_US_2016_03_01:154705004 SNOMEDCT_US_2016_03_01:190505004 SNOMEDCT_US_2016_03_01:47270006 UMLS_CUI:C0010481 Cushing syndrome Suprarenogenic syndrome pituitary basophilism disease_ontology DOID:12252 Cushing's syndrome An adrenal gland hyperfunction that is caused by overactivity of the adrenal cortex caused by a tumor of the pituitary gland. URL:http://www.britannica.com/EBchecked/topic/147320/Cushing-syndrome Suprarenogenic syndrome SNOMEDCT_2005_07_31:47270006 pituitary basophilism CSP2005:0060-4199 NCI:C6810 SNOMEDCT_US_2016_03_01:277664004 UMLS_CUI:C0349644 lymphoma of the testis malignant lymphoma of testis (disorder) testicular Lymphoma disease_ontology DOID:12253 testicular lymphoma malignant lymphoma of testis (disorder) SNOMEDCT_2005_07_31:277664004 testicular Lymphoma NCI2004_11_17:C6810 metastatic neoplasm to the testis secondary malignant neoplasm of testis (disorder) disease_ontology DOID:12254 metastatic tumor to the testis true metastatic neoplasm to the testis NCI2004_11_17:C4584 secondary malignant neoplasm of testis (disorder) SNOMEDCT_2005_07_31:94623007 Congenital Adrenal hyperplasia Congenital adrenal hyperplasia (disorder) Congenital adrenal hyperplasia, NOS congenital adrenal hyperplasia disease_ontology DOID:12255 congenital adrenal hyperplasia true Congenital Adrenal hyperplasia NCI2004_11_17:C34360 Congenital adrenal hyperplasia (disorder) SNOMEDCT_2005_07_31:237751000 Congenital adrenal hyperplasia, NOS SNOMEDCT_2005_07_31:27037004 congenital adrenal hyperplasia CSP2005:0060-3730 disease_ontology DOID:12256 adrenogenital disease true ICD10CM:E27.5 ICD9CM:255.6 SNOMEDCT_US_2016_03_01:111565003 UMLS_CUI:C0154206 DOID:12257 medulloadrenal hyperfunction acquired factor IX deficiency disease (disorder) disease_ontology DOID:12258 acquired factor IX deficiency true acquired factor IX deficiency disease (disorder) SNOMEDCT_2005_07_31:12153008 An inherited blood coagulation disease that has_material_basis_in Factor IX deficiency, which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait. ICD10CM:D67 ICD9CM:286.1 MESH:D002836 NCI:C26721 OMIM:306900 SNOMEDCT_US_2016_03_01:154817006 SNOMEDCT_US_2016_03_01:234443007 SNOMEDCT_US_2016_03_01:41788008 UMLS_CUI:C0008533 Congenital factor IX deficiency Congenital factor IX disorder deficiency, functional factor IX factor IX deficiency disease_ontology DOID:12259 OMIM mapping confirmed by DO. [SN]. hemophilia B An inherited blood coagulation disease that has_material_basis_in Factor IX deficiency, which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait. url:http://www.nlm.nih.gov/medlineplus/ency/article/000539.htm Congenital factor IX deficiency SNOMEDCT_2005_07_31:154817006 Congenital factor IX disorder ICD9CM_2006:286.1 deficiency, functional factor IX MTHICD9_2006:286.1 factor IX deficiency CSP2005:0438-3499 ICD10CM:N70.1 ICD10CM:N70.13 ICD9CM:614.1 SNOMEDCT_US_2016_03_01:155970008 SNOMEDCT_US_2016_03_01:198140009 SNOMEDCT_US_2016_03_01:198142001 SNOMEDCT_US_2016_03_01:198146003 SNOMEDCT_US_2016_03_01:266649009 UMLS_CUI:C0156328 chronic salpingitis and oophoritis chronic salpingitis/oophoritis chronic salpingo-oophoritis disease_ontology DOID:12265 chronic salpingo-oophoritis chronic salpingitis and oophoritis ICD9CM_2006:614.1 chronic salpingitis/oophoritis SNOMEDCT_2005_07_31:266649009 chronic salpingo-oophoritis SNOMEDCT_2005_07_31:198142001 disease_ontology DOID:12268 eclampsia with delivery true disease_ontology DOID:12269 Toxemia with convulsions complicating pregnancy, childbirth or the puerperium true ICD10CM:D70 ICD10CM:D70.9 ICD9CM:288.0 ICD9CM:288.00 MESH:D009503 SNOMEDCT_US_2016_03_01:142928004 SNOMEDCT_US_2016_03_01:191336001 SNOMEDCT_US_2016_03_01:303011007 SNOMEDCT_US_2016_03_01:72885007 UMLS_CUI:C0027947 disease_ontology DOID:1227 neutropenia An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc. ICD10CM:Q13.0 MESH:D003103 NCI:C98877 OMIM:120200 OMIM:120300 OMIM:216820 ORDO:194 ORDO:98945 SNOMEDCT_US_2016_03_01:92828000 SNOMEDCT_US_2016_03_01:93390002 UMLS_CUI:C0009363 coloboma of eye coloboma of macula congenital ocular coloboma disease_ontology DOID:12270 Xref MGI. OMIM mapping confirmed by DO. [SN]. coloboma An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc. url:http://en.wikipedia.org/wiki/Coloboma url:http://ghr.nlm.nih.gov/condition/coloboma ICD10CM:Q13.1 ICD9CM:743.45 MESH:D015783 NCI:C84563 OMIM:106210 SNOMEDCT_US_2016_03_01:204161008 SNOMEDCT_US_2016_03_01:69278003 UMLS_CUI:C0003076 Aplasia of iris disease_ontology DOID:12271 OMIM mapping confirmed by DO. [SN]. aniridia Aplasia of iris SNOMEDCT_2005_07_31:204161008 CSP:1116-1678 ICD10CM:H52.31 ICD9CM:367.31 MESH:D015858 SNOMEDCT_US_2016_03_01:3289004 UMLS_CUI:C0003081 disease_ontology DOID:12273 anisometropia Anisometropia and aniseikonia (disorder) Anisometropia or aniseikonia NOS (disorder) disease_ontology DOID:12274 anisometropia and aniseikonia true Anisometropia and aniseikonia (disorder) SNOMEDCT_2005_07_31:193628007 Anisometropia or aniseikonia NOS (disorder) SNOMEDCT_2005_07_31:193629004 A pyoderma that is a milder form of diphtheria restricted to the skin producing shallow skin ulcers is caused by direct physical contact of indivduals infected with Corynebacterium diphtheriae as the bacteria releases the diphtheria toxin. ICD10CM:A36.3 ICD9CM:032.85 NCI:C34544 SNOMEDCT_US_2016_03_01:18901009 UMLS_CUI:C0012555 Cutaneous Diphtheria Cutaneous diphtheria (disorder) disease_ontology DOID:12275 cutaneous diphtheria A pyoderma that is a milder form of diphtheria restricted to the skin producing shallow skin ulcers is caused by direct physical contact of indivduals infected with Corynebacterium diphtheriae as the bacteria releases the diphtheria toxin. url:http://en.wikipedia.org/wiki/Diphtheria url:http://www.merck.com/mmpe/sec14/ch172/ch172c.html url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A1746 Cutaneous Diphtheria NCI2004_11_17:C34544 Cutaneous diphtheria (disorder) SNOMEDCT_2005_07_31:18901009 ICD10CM:C62.0 ICD9CM:186.0 SNOMEDCT_US_2016_03_01:188219004 SNOMEDCT_US_2016_03_01:188221009 SNOMEDCT_US_2016_03_01:188224001 SNOMEDCT_US_2016_03_01:94113004 UMLS_CUI:C0153595 malignant neoplasm of retained testis malignant neoplasm of undescended testis malignant neoplasm of undescended testis NOS (disorder) malignant tumor of retained testis (disorder) malignant tumor of undescended testis (disorder) disease_ontology DOID:12276 malignant tumor of undescended testis malignant neoplasm of retained testis MTHICD9_2006:186.0 malignant neoplasm of undescended testis ICD9CM_2006:186.0 malignant neoplasm of undescended testis SNOMEDCT_2005_07_31:94113004 malignant neoplasm of undescended testis NOS (disorder) SNOMEDCT_2005_07_31:188224001 malignant tumor of retained testis (disorder) SNOMEDCT_2005_07_31:188221009 malignant tumor of undescended testis (disorder) SNOMEDCT_2005_07_31:188219004 disease_ontology DOID:1228 paranoid type schizophrenia in remission true ICD10CM:I80.1 ICD9CM:451.11 SNOMEDCT_US_2016_03_01:1748006 SNOMEDCT_US_2016_03_01:195410000 UMLS_CUI:C0265066 Phlebitis and thrombophlebitis of femoral vein (deep) (superficial) Thrombophlebitis of deep femoral vein (disorder) Thrombophlebitis of the femoral vein (disorder) disease_ontology DOID:12282 femoral vein thrombophlebitis Phlebitis and thrombophlebitis of femoral vein (deep) (superficial) ICD9CM_2006:451.11 Thrombophlebitis of deep femoral vein (disorder) SNOMEDCT_2005_07_31:1748006 Thrombophlebitis of the femoral vein (disorder) SNOMEDCT_2005_07_31:195410000 disease_ontology DOID:12284 maternal pyrexia in labor true NCI:C9277 UMLS_CUI:C1336711 disease_ontology DOID:12286 testicular leukemia A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Crimean-Congo hemorrhagic fever virus, which is transmitted_by Hyalomma ticks. The infection has_symptom headache, has_symptom high fever, has_symptom back pain, has_symptom joint pain, has_symptom stomach pain, has_symptom vomiting, has_symptom red eyes, has_symptom flushed face, has_symptom red throat, has_symptom petechiae (red spots) on the palate, has_symptom jaundice, has_symptom nosebleeds, and has_symptom blood in the feces and urine. ICD10CM:A98.0 ICD9CM:065.0 MESH:D006479 NCI:C34682 SNOMEDCT_US_2016_03_01:43489008 UMLS_CUI:C0019099 CHF Congo virus Congo-Crimean Hemorrhagic Fever Crimean hemorrhagic fever [CHF Congo virus] disease_ontology DOID:12287 Crimean-Congo hemorrhagic fever A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Crimean-Congo hemorrhagic fever virus, which is transmitted_by Hyalomma ticks. The infection has_symptom headache, has_symptom high fever, has_symptom back pain, has_symptom joint pain, has_symptom stomach pain, has_symptom vomiting, has_symptom red eyes, has_symptom flushed face, has_symptom red throat, has_symptom petechiae (red spots) on the palate, has_symptom jaundice, has_symptom nosebleeds, and has_symptom blood in the feces and urine. url:http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/cchf.htm url:http://www.who.int/mediacentre/factsheets/fs208/en/ CHF Congo virus MTHICD9_2006:065.0 Congo-Crimean Hemorrhagic Fever NCI2004_11_17:C34682 Crimean hemorrhagic fever [CHF Congo virus] ICD9CM_2006:065.0 A schizophrenia that involves delusions or auditory hallucinations of persecution or being plotted against without thought disorder, disorganized behavior, or affective flattening. DOID:11238 DOID:1230 ICD10CM:F20.0 ICD9CM:295.3 ICD9CM:295.30 ICD9CM:295.31 ICD9CM:295.32 MESH:D012563 NCI:C35006 SNOMEDCT_US_2016_03_01:154865007 SNOMEDCT_US_2016_03_01:154869001 SNOMEDCT_US_2016_03_01:191551006 SNOMEDCT_US_2016_03_01:191553009 SNOMEDCT_US_2016_03_01:191557005 SNOMEDCT_US_2016_03_01:192319007 SNOMEDCT_US_2016_03_01:192330005 SNOMEDCT_US_2016_03_01:268747005 SNOMEDCT_US_2016_03_01:268748000 SNOMEDCT_US_2016_03_01:31658008 SNOMEDCT_US_2016_03_01:64905009 UMLS_CUI:C0036349 UMLS_CUI:C0154354 UMLS_CUI:C0270398 Paranoid type schizophrenia Paraphrenia - late Paraphrenic schizophrenia chronic paranoid schizophrenia paranoid type schizophrenia subchronic state disease_ontology DOID:1229 paranoid schizophrenia A schizophrenia that involves delusions or auditory hallucinations of persecution or being plotted against without thought disorder, disorganized behavior, or affective flattening. url:http://en.wikipedia.org/wiki/Paranoid_schizophrenia url:http://www.nlm.nih.gov/medlineplus/ency/article/000936.htm Paranoid type schizophrenia ICD9CM_2006:295.3 Paraphrenia - late SNOMEDCT_2005_07_31:192330005 Paraphrenic schizophrenia MTHICD9_2006:295.3 disease_ontology DOID:12292 recurrent malignant endocervical neoplasm true A mood disorder that is characterized by mood reactivity (paradoxical anhedonia) and positivity, significant weight gain or increased appetite ("comfort eating"), excessive sleep or somnolence (hypersomnia), a sensation of heaviness in limbs known as leaden paralysis, and significant social impairment as a consequence of hypersensitivity to perceived interpersonal rejection. ICD10CM:F32.8 ICD9CM:296.82 SNOMEDCT_US_2016_03_01:191659001 SNOMEDCT_US_2016_03_01:192371004 SNOMEDCT_US_2016_03_01:277538003 UMLS_CUI:C0154437 Atypical depression disease_ontology DOID:12294 atypical depressive disorder A mood disorder that is characterized by mood reactivity (paradoxical anhedonia) and positivity, significant weight gain or increased appetite ("comfort eating"), excessive sleep or somnolence (hypersomnia), a sensation of heaviness in limbs known as leaden paralysis, and significant social impairment as a consequence of hypersensitivity to perceived interpersonal rejection. url:http://en.wikipedia.org/wiki/Mood_disorder Atypical depression SNOMEDCT_2005_07_31:192371004 A hypersensitivity reaction type II disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis. ICD10CM:H20.82 ICD10CM:H30.81 ICD9CM:363.22 ICD9CM:364.24 MESH:D014607 NCI:C85218 SNOMEDCT_US_2016_03_01:193453003 SNOMEDCT_US_2016_03_01:193497004 SNOMEDCT_US_2016_03_01:44923005 SNOMEDCT_US_2016_03_01:47230004 UMLS_CUI:C0042170 Harada's disease Vogt-Koyanagi syndrome Vogt-Koyanagi-Harada disease (disorder) uveomeningoencephalitic syndrome disease_ontology DOID:12297 Vogt-Koyanagi-Harada disease A hypersensitivity reaction type II disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis. ls:IEDB url:http://en.wikipedia.org/wiki/Vogt%E2%80%93Koyanagi%E2%80%93Harada_syndrome Harada's disease ICD9CM_2006:363.22 Vogt-Koyanagi syndrome ICD9CM_2006:364.24 Vogt-Koyanagi-Harada disease (disorder) SNOMEDCT_2005_07_31:193497004 ICD9CM:155.1 SNOMEDCT_US_2016_03_01:154471006 SNOMEDCT_US_2016_03_01:187772002 SNOMEDCT_US_2016_03_01:187775000 SNOMEDCT_US_2016_03_01:187777008 SNOMEDCT_US_2016_03_01:187778003 SNOMEDCT_US_2016_03_01:269549003 SNOMEDCT_US_2016_03_01:93840005 UMLS_CUI:C0546835 Ca intrahepatic bile ducts Ca intrahepatic bile ducts (disorder) malignant neoplasm of intrahepatic bile ducts malignant neoplasm of intrahepatic bile ducts NOS (disorder) malignant neoplasm of intrahepatic biliary passages malignant neoplasm of intrahepatic biliary passages (disorder) malignant neoplasm of intrahepatic gall duct (disorder) disease_ontology DOID:12298 intrahepatic gall duct cancer Ca intrahepatic bile ducts SNOMEDCT_2005_07_31:154471006 Ca intrahepatic bile ducts (disorder) SNOMEDCT_2005_07_31:269549003 malignant neoplasm of intrahepatic bile ducts ICD9CM_2006:155.1 malignant neoplasm of intrahepatic bile ducts SNOMEDCT_2005_07_31:187772002 malignant neoplasm of intrahepatic bile ducts SNOMEDCT_2005_07_31:93840005 malignant neoplasm of intrahepatic bile ducts NOS (disorder) SNOMEDCT_2005_07_31:187778003 malignant neoplasm of intrahepatic biliary passages MTHICD9_2006:155.1 malignant neoplasm of intrahepatic biliary passages (disorder) SNOMEDCT_2005_07_31:187775000 malignant neoplasm of intrahepatic gall duct (disorder) SNOMEDCT_2005_07_31:187777008 Naevus spilus Speckled lentiginous naevus nevus spilus (disorder) disease_ontology DOID:12301 speckled lentiginous nevus true Naevus spilus SNOMEDCT_2005_07_31:254814003 Speckled lentiginous naevus SNOMEDCT_2005_07_31:75534002 nevus spilus (disorder) SNOMEDCT_2005_07_31:398660000 A diphtheria that involves a bluish white membrane formation on the faucial pillars, uvula, soft palate and tonsils. Faucial Diphtheria Faucial diphtheria Faucial diphtheria (disorder) disease_ontology DOID:12302 diphtheritic membranous angina true A diphtheria that involves a bluish white membrane formation on the faucial pillars, uvula, soft palate and tonsils. url:http://www.nature.com/icb/journal/v17/n4/pdf/icb193934a.pdf url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2052735/pdf/brmedj03773-0009.pdf Faucial Diphtheria NCI2004_11_17:C34545 Faucial diphtheria ICD9CM_2006:032.0 Faucial diphtheria (disorder) SNOMEDCT_2005_07_31:3419005 ICD10CM:H11.13 ICD9CM:372.55 SNOMEDCT_US_2016_03_01:193888007 SNOMEDCT_US_2016_03_01:267645009 SNOMEDCT_US_2016_03_01:66081003 UMLS_CUI:C0155163 disease_ontology DOID:12304 conjunctival pigmentation ICD10CM:Q82.3 MESH:D007184 NCI:C84787 OMIM:308300 SNOMEDCT_US_2016_03_01:205567005 SNOMEDCT_US_2016_03_01:367520004 SNOMEDCT_US_2016_03_01:806001 UMLS_CUI:C0021171 Incontinentia pigmenti (disorder) Incontinentia pigmenti syndrome (disorder) disease_ontology DOID:12305 OMIM mapping confirmed by DO. [SN]. Bloch-Sulzberger syndrome Incontinentia pigmenti (disorder) SNOMEDCT_2005_07_31:205567005 Incontinentia pigmenti syndrome (disorder) SNOMEDCT_2005_07_31:367520004 A hypersensitivity reaction type II disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes. EFO:0004208 ICD10CM:L80 ICD9CM:709.01 MESH:D014820 NCI:C26915 OMIM:193200 SNOMEDCT_US_2016_03_01:156437000 SNOMEDCT_US_2016_03_01:56727007 UMLS_CUI:C0042900 disease_ontology DOID:12306 OMIM mapping confirmed by DO. [LS]. vitiligo A hypersensitivity reaction type II disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes. ls:IEDB url:http://en.wikipedia.org/wiki/Vitiligo ICD10CM:H18.01 ICD9CM:371.11 SNOMEDCT_US_2016_03_01:18377001 SNOMEDCT_US_2016_03_01:193805008 SNOMEDCT_US_2016_03_01:270489003 UMLS_CUI:C0155104 Anterior corneal pigmentations disease_ontology DOID:12307 anterior corneal pigmentation Anterior corneal pigmentations SNOMEDCT_2005_07_31:193805008 A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin without elevation of liver alanine transaminase and aspartate transaminase enzymes as a result of the deficient ability of hepatocytes to secrete conjugated bilirubin into the bile. ICD10CM:E80.6 MESH:D007566 NCI:C34741 OMIM:237500 SNOMEDCT_US_2016_03_01:44553005 UMLS_CUI:C0022350 Dubin Johnson syndrome chronic idiopathic jaundice disease_ontology DOID:12308 OMIM mapping confirmed by DO. [SN]. Dubin-Johnson syndrome A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin without elevation of liver alanine transaminase and aspartate transaminase enzymes as a result of the deficient ability of hepatocytes to secrete conjugated bilirubin into the bile. url:http://en.wikipedia.org/wiki/Dubin-Johnson_syndrome Dubin Johnson syndrome CSP2005:1654-1020 ICD10CM:Q82.2 MESH:D014582 NCI:C3433 SNOMEDCT_US_2016_03_01:205566001 SNOMEDCT_US_2016_03_01:703828003 SNOMEDCT_US_2016_03_01:78745000 UMLS_CUI:C0042111 UP/MPCM disease_ontology DOID:12309 OMIM mapping confirmed by DO. [LS]. urticaria pigmentosa UP/MPCM NCI2004_11_17:C3433 chronic Schizophrenia chronic schizophrenia (disorder) disease_ontology DOID:1231 chronic schizophrenia true chronic Schizophrenia NCI2004_11_17:C35270 chronic schizophrenia (disorder) SNOMEDCT_2005_07_31:83746006 ICD10CM:H18.06 ICD9CM:371.12 SNOMEDCT_US_2016_03_01:55031000 UMLS_CUI:C0155105 Stromal corneal pigmentations disease_ontology DOID:12311 stromal corneal pigmentation Stromal corneal pigmentations ICD9CM_2006:371.12 ICD10CM:H18.53 ICD9CM:371.53 MESH:D003317 NCI:C34651 SNOMEDCT_US_2016_03_01:45283008 UMLS_CUI:C0018179 granular corneal dystrophy disease_ontology DOID:12318 corneal granular dystrophy granular corneal dystrophy ICD9CM_2006:371.53 disease_ontology DOID:1232 paranoid type schizophrenia subchronic state with acute exacerbation true An asthma that is characterized by chronic nonproductive cough without shortness of breath. ICD10CM:J45.991 ICD9CM:493.82 SNOMEDCT_US_2016_03_01:409663006 UMLS_CUI:C0694548 disease_ontology DOID:12323 cough variant asthma An asthma that is characterized by chronic nonproductive cough without shortness of breath. url:http://www.aaaai.org/patients/topicofthemonth/0107/ url:http://www.ncbi.nlm.nih.gov/pubmed/19272144 Trans-sexualism with homosexual history Transsexuality with homosexual history (disorder) disease_ontology DOID:12324 transsexuality with homosexual history true Trans-sexualism with homosexual history ICD9CM_2006:302.52 Transsexuality with homosexual history (disorder) SNOMEDCT_2005_07_31:191784008 ICD10CM:I27.1 ICD9CM:416.1 SNOMEDCT_US_2016_03_01:194886003 SNOMEDCT_US_2016_03_01:45650007 UMLS_CUI:C0152102 Kyphoscoliotic heart disease (disorder) disease_ontology DOID:12325 kyphoscoliotic heart disease Kyphoscoliotic heart disease (disorder) SNOMEDCT_2005_07_31:45650007 ICD9CM:416.8 SNOMEDCT_US_2016_03_01:194887007 SNOMEDCT_US_2016_03_01:194889005 UMLS_CUI:C0155673 disease_ontology DOID:12326 chronic pulmonary heart disease ICD10CM:E41 ICD9CM:261 MESH:D011502 SNOMEDCT_US_2016_03_01:154730001 SNOMEDCT_US_2016_03_01:190599003 SNOMEDCT_US_2016_03_01:267495004 SNOMEDCT_US_2016_03_01:29740003 UMLS_CUI:C0086588 Nutritional atrophy Nutritional marasmus Nutritional marasmus (disorder) disease_ontology DOID:12328 marasmus Nutritional atrophy MTHICD9_2006:261 Nutritional marasmus ICD9CM_2006:261 Nutritional marasmus SNOMEDCT_2005_07_31:190599003 Nutritional marasmus (disorder) SNOMEDCT_2005_07_31:29740003 ICD10CM:F64.1 ICD10CM:F65.1 ICD9CM:302.3 MESH:D014190 NCI:C94359 SNOMEDCT_US_2016_03_01:154907002 SNOMEDCT_US_2016_03_01:191780004 SNOMEDCT_US_2016_03_01:192509002 SNOMEDCT_US_2016_03_01:248108005 SNOMEDCT_US_2016_03_01:268763002 SNOMEDCT_US_2016_03_01:472948001 SNOMEDCT_US_2016_03_01:472981000 SNOMEDCT_US_2016_03_01:472989003 SNOMEDCT_US_2016_03_01:63495002 UMLS_CUI:C0040774 Dual-role transvestism Fetishistic transvestism (disorder) Transvestic fetishism cross dresser disease_ontology DOID:1233 transvestism Dual-role transvestism SNOMEDCT_2005_07_31:248108005 Fetishistic transvestism (disorder) SNOMEDCT_2005_07_31:63495002 Transvestic fetishism ICD9CM_2006:302.3 cross dresser CSP2005:4008-0087 MESH:D006398 SNOMEDCT_US_2016_03_01:66259004 UMLS_CUI:C0018931 Hematocele male hematocele disease_ontology DOID:12332 hematocele of tunica vaginalis testis Hematocele MTHICD9_2006:608.83 male hematocele SNOMEDCT_2005_07_31:66259004 ICD9CM:608.85 SNOMEDCT_US_2016_03_01:198064007 SNOMEDCT_US_2016_03_01:198067000 UMLS_CUI:C0156316 Stricture of male genital organs disease_ontology DOID:12333 male genital organ stricture Stricture of male genital organs ICD9CM_2006:608.85 ICD10CM:N50.1 ICD9CM:608.83 SNOMEDCT_US_2016_03_01:198057005 UMLS_CUI:C0042374 vascular disorder of male genital organs disease_ontology DOID:12335 male genital organ vascular disease vascular disorder of male genital organs ICD9CM_2006:608.83 ICD10CM:N46 ICD10CM:N46.9 ICD9CM:606 ICD9CM:606.9 MESH:D007248 SNOMEDCT_US_2016_03_01:155924001 SNOMEDCT_US_2016_03_01:198018002 SNOMEDCT_US_2016_03_01:2904007 UMLS_CUI:C0021364 disease_ontology DOID:12336 male infertility ICD10CM:I86.1 ICD9CM:456.4 MESH:D014646 SNOMEDCT_US_2016_03_01:155480003 SNOMEDCT_US_2016_03_01:195480007 SNOMEDCT_US_2016_03_01:46871008 SNOMEDCT_US_2016_03_01:51070004 UMLS_CUI:C0042341 Scrotal varices disease_ontology DOID:12337 varicocele Scrotal varices ICD9CM_2006:456.4 disease_ontology DOID:12338 redundant prepuce and phimosis true NCI:C7353 UMLS_CUI:C1335779 disease_ontology DOID:12339 retroperitoneal lymphoma A disease of mental health that involves a conflict between a person's actual physical gender and the gender that person identifies himself or herself as. ICD10CM:F64.2 ICD9CM:302.6 ICD9CM:302.8 ICD9CM:302.85 ICD9CM:302.89 SNOMEDCT_US_2016_03_01:5095008 UMLS_CUI:C0029825 UMLS_CUI:C0154467 UMLS_CUI:C0236802 disease_ontology DOID:1234 gender identity disorder A disease of mental health that involves a conflict between a person's actual physical gender and the gender that person identifies himself or herself as. url:http://www.nlm.nih.gov/medlineplus/ency/article/001527.htm A malignant retroperitoneal cancer and sarcoma that is located_in the retroperitoneal space. NCI:C4832 SNOMEDCT_US_2016_03_01:307219002 UMLS_CUI:C0585129 retroperitoneal sarcoma (disorder) disease_ontology DOID:12341 retroperitoneal sarcoma A malignant retroperitoneal cancer and sarcoma that is located_in the retroperitoneal space. url:http://en.wikipedia.org/wiki/Retroperitoneal_space url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1665230/ retroperitoneal sarcoma (disorder) SNOMEDCT_2005_07_31:307219002 NCI:C7352 UMLS_CUI:C0948749 carcinoma of Retroperitoneum disease_ontology carcinoma of the retroperitoneum DOID:12342 retroperitoneum carcinoma carcinoma of Retroperitoneum NCI2004_11_17:C7352 disease_ontology hyperkinetic heart disease DOID:12346 hyperkinetic heart syndrome true hyperkinetic heart disease ICD9CM_2006:429.82 An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue. DOID:14708 ICD10CM:Q78.0 ICD9CM:756.51 MESH:D010013 NCI:C26837 NCI:C99003 OMIM:PS166200 ORDO:666 SNOMEDCT_US_2016_03_01:157008000 SNOMEDCT_US_2016_03_01:205492005 SNOMEDCT_US_2016_03_01:205493000 SNOMEDCT_US_2016_03_01:205494006 SNOMEDCT_US_2016_03_01:205498009 SNOMEDCT_US_2016_03_01:254105005 SNOMEDCT_US_2016_03_01:254106006 SNOMEDCT_US_2016_03_01:254107002 SNOMEDCT_US_2016_03_01:254108007 SNOMEDCT_US_2016_03_01:254109004 SNOMEDCT_US_2016_03_01:268352002 SNOMEDCT_US_2016_03_01:3508009 SNOMEDCT_US_2016_03_01:385482004 SNOMEDCT_US_2016_03_01:78314001 UMLS_CUI:C0023931 UMLS_CUI:C0029434 Lobstein's syndrome Osteopsathyrosis Vrolik's disease brittle bone disease disease_ontology Fragilitas ossium DOID:12347 Xref MGI. OMIM mapping confirmed by DO. [SN]. osteogenesis imperfecta An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue. url:http://emedicine.medscape.com/article/947588-overview url:http://en.wikipedia.org/wiki/Osteogenesis_imperfecta url:http://ghr.nlm.nih.gov/condition/osteogenesis-imperfecta url:http://orthoinfo.aaos.org/topic.cfm?topic=a00051 url:http://osteogenesisimperfecta.org/ url:http://www.niams.nih.gov/Health_Info/bone/osteogenesis_Imperfecta/ url:http://www.nlm.nih.gov/medlineplus/ency/article/001573.htm url:http://www.oif.org/site/PageServer Lobstein's syndrome SNOMEDCT_2005_07_31:205492005 Osteopsathyrosis MTHICD9_2006:756.51 Vrolik's disease SNOMEDCT_2005_07_31:205492005 brittle bone disease CSP2005:1849-7175 Fragilitas ossium SNOMEDCT_2005_07_31:157008000 ICD10CM:H44.44 ICD9CM:360.31 SNOMEDCT_US_2016_03_01:2251002 UMLS_CUI:C0154782 primary hypotony of eye disease_ontology DOID:12349 primary eye hypotony primary hypotony of eye SNOMEDCT_2005_07_31:2251002 ICD10CM:F65.0 ICD9CM:302.81 MESH:D005329 NCI:C94353 SNOMEDCT_US_2016_03_01:192513009 SNOMEDCT_US_2016_03_01:59174009 UMLS_CUI:C0015957 disease_ontology DOID:1235 fetishism DOID:12350 CSP:1754-6978 ICD9CM:571.1 NCI:C34352 SNOMEDCT_US_2016_03_01:155810001 SNOMEDCT_US_2016_03_01:9953008 UMLS_CUI:C0001306 Alcoholic Hepatitis Alcoholic hepatitis Alcoholic hepatitis (disorder) acute Alcoholic Hepatitis acute alcoholic hepatitis acute alcoholic liver disease acute alcoholic liver disease (disorder) disease_ontology DOID:12351 alcoholic hepatitis Alcoholic Hepatitis NCI2004_11_17:C34684 Alcoholic hepatitis SNOMEDCT_2005_07_31:197312006 Alcoholic hepatitis (disorder) SNOMEDCT_2005_07_31:235875008 acute Alcoholic Hepatitis NCI2004_11_17:C34352 acute alcoholic hepatitis ICD9CM_2006:571.1 SNOMEDCT_2005_07_31:155810001 acute alcoholic liver disease (disorder) SNOMEDCT_2005_07_31:9953008 ICD10CM:N41.3 ICD9CM:601.3 SNOMEDCT_US_2016_03_01:67685000 UMLS_CUI:C0156291 disease_ontology DOID:12355 prostatocystitis disease_ontology DOID:12356 bacterial prostatitis true A labyrinthitis which involves viral infection of the inner ear through the upper airway or the blood stream. The symptoms may include hearing loss and ringing in the ears. If the virus reaches the vestibular system, dizziness, severe vertigo with nausea and vomiting, and imbalance can occur. ICD9CM:386.35 SNOMEDCT_US_2016_03_01:34243007 SNOMEDCT_US_2016_03_01:409711008 UMLS_CUI:C0155508 Epidemic vertigo Epidemic vertigo (disorder) Epidemic vertigo (finding) Viral labyrinthitis (disorder) disease_ontology DOID:12357 viral labyrinthitis A labyrinthitis which involves viral infection of the inner ear through the upper airway or the blood stream. The symptoms may include hearing loss and ringing in the ears. If the virus reaches the vestibular system, dizziness, severe vertigo with nausea and vomiting, and imbalance can occur. url:http://books.google.com/books?id=uCDyjzqAL3wC&pg=PA69&lpg#v=onepage&q=&f=false Epidemic vertigo ICD9CM_2006:078.81 Epidemic vertigo (disorder) SNOMEDCT_2005_07_31:186738001 Epidemic vertigo (finding) SNOMEDCT_2005_07_31:43680000 Viral labyrinthitis (disorder) SNOMEDCT_2005_07_31:34243007 Viral labyrinthitis (disorder) SNOMEDCT_2005_07_31:409711008 A eustachian tube disorder with a wider eustachian tube which allows a larger bolus of bacteria-laden material from the nasopharynx during an infection to enter the middle ear, causing a more fulminant infection. ICD10CM:H69.0 ICD10CM:H69.00 ICD9CM:381.7 SNOMEDCT_US_2016_03_01:30280005 UMLS_CUI:C0155434 disease_ontology DOID:12358 patulous eustachian tube A eustachian tube disorder with a wider eustachian tube which allows a larger bolus of bacteria-laden material from the nasopharynx during an infection to enter the middle ear, causing a more fulminant infection. url:http://books.google.com/books?id=UQ-rOpK6oScC&pg=PA53&lpg#v=onepage&q=&f=false ICD9CM:376.2 SNOMEDCT_US_2016_03_01:194012006 SNOMEDCT_US_2016_03_01:276177000 SNOMEDCT_US_2016_03_01:415717005 SNOMEDCT_US_2016_03_01:53061005 UMLS_CUI:C0155264 disease_ontology DOID:12359 endocrine exophthalmos ICD10CM:H05.21 ICD9CM:376.36 SNOMEDCT_US_2016_03_01:48747004 UMLS_CUI:C0155272 Lateral displacement of globe disease_ontology DOID:12360 lateral displacement of eye Lateral displacement of globe ICD9CM_2006:376.36 An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland. EFO:0004237 ICD10CM:E05.0 MESH:D006111 NCI:C3071 OMIM:275000 OMIM:300351 OMIM:603388 SNOMEDCT_US_2016_03_01:154655004 SNOMEDCT_US_2016_03_01:190240002 SNOMEDCT_US_2016_03_01:237510004 SNOMEDCT_US_2016_03_01:237823003 SNOMEDCT_US_2016_03_01:267464006 SNOMEDCT_US_2016_03_01:353295004 SNOMEDCT_US_2016_03_01:367367004 SNOMEDCT_US_2016_03_01:367449005 SNOMEDCT_US_2016_03_01:38591003 SNOMEDCT_US_2016_03_01:55807009 UMLS_CUI:C0018213 Grave's disease Graves disease exophthalmic goiter disease_ontology Basedow's disease DOID:12361 Xref MGI. OMIM mapping confirmed by DO. [SN]. Graves' disease An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland. url:http://en.wikipedia.org/wiki/Graves_disease exophthalmic goiter CSP2005:2928-6602 Basedow's disease SNOMEDCT_2005_07_31:237510004 ICD9CM:376.21 SNOMEDCT_US_2016_03_01:19885005 UMLS_CUI:C0155265 disease_ontology DOID:12362 thyrotoxic exophthalmos ICD10CM:H05.25 ICD9CM:376.34 SNOMEDCT_US_2016_03_01:49774006 UMLS_CUI:C0155270 Intermittent exophthalmos disease_ontology DOID:12363 intermittent proptosis Intermittent exophthalmos ICD9CM_2006:376.34 ICD10CM:H05.26 ICD9CM:376.35 SNOMEDCT_US_2016_03_01:2284002 UMLS_CUI:C0155271 disease_ontology DOID:12364 pulsating exophthalmos A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle. DOID:12552 EFO:0001068 ICD10CM:B54 ICD9CM:084 ICD9CM:084.6 MESH:D008288 NCI:C34797 OMIM:609148 SNOMEDCT_US_2016_03_01:105649009 SNOMEDCT_US_2016_03_01:154374002 SNOMEDCT_US_2016_03_01:186797008 SNOMEDCT_US_2016_03_01:187510004 SNOMEDCT_US_2016_03_01:248437004 SNOMEDCT_US_2016_03_01:61462000 UMLS_CUI:C0024530 induced malaria disease_ontology DOID:12365 Xref MGI. malaria A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle. url:http://en.wikipedia.org/wiki/Malaria url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=malaria ICD10CM:N81.0 ICD9CM:618.03 NCI:C123256 SNOMEDCT_US_2016_03_01:12068006 SNOMEDCT_US_2016_03_01:197935003 UMLS_CUI:C0238502 Urethrocele disease_ontology DOID:12369 prolapse of urethra Urethrocele ICD9CM_2006:618.03 ICD10CM:H18.4 ICD10CM:H18.40 ICD9CM:371.4 ICD9CM:371.40 SNOMEDCT_US_2016_03_01:111521006 SNOMEDCT_US_2016_03_01:193824006 SNOMEDCT_US_2016_03_01:193830006 UMLS_CUI:C0155118 disease_ontology DOID:1237 corneal degeneration A pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. It is caused by bacteria and viruses. ICD10CM:J18.0 ICD9CM:485 MESH:D001996 NCI:C26710 SNOMEDCT_US_2016_03_01:155551009 SNOMEDCT_US_2016_03_01:195914001 SNOMEDCT_US_2016_03_01:266352008 SNOMEDCT_US_2016_03_01:396285007 SNOMEDCT_US_2016_03_01:67814005 UMLS_CUI:C0006285 Chest infection - unspecified bronchopneumonia bronchial pneumonia lobular pneumonia disease_ontology DOID:12375 bronchopneumonia A pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. It is caused by bacteria and viruses. url:http://www.mercksource.com/pp/us/cns/cns_hl_dorlands_split.jsp?pg=/ppdocs/us/common/dorlands/dorland/two/000014753.htm url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bronchopneumonia Chest infection - unspecified bronchopneumonia SNOMEDCT_2005_07_31:195914001 DOID:13161 ICD9CM:335.11 MESH:D014897 NCI:C118847 NCI:C85076 OMIM:253400 SNOMEDCT_US_2016_03_01:54280009 UMLS_CUI:C0152109 UMLS_CUI:C0700595 Kugelberg-Welander disease SMA3 Spinal muscular atrophy, familial Type III Spinal Muscular Atrophy spinal muscular atrophy of childhood disease_ontology DOID:12376 OMIM mapping confirmed by DO. [SN]. juvenile spinal muscular atrophy Kugelberg-Welander disease ICD9CM_2006:335.11 SMA3 SNOMEDCT_2005_07_31:54280009 Spinal muscular atrophy, familial MTHICD9_2006:335.11 A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy. ICD10CM:G12.9 ICD9CM:335.1 ICD9CM:335.10 MESH:D009134 NCI:C85075 SNOMEDCT_US_2016_03_01:192885003 SNOMEDCT_US_2016_03_01:192887006 SNOMEDCT_US_2016_03_01:5262007 UMLS_CUI:C0026847 disease_ontology DOID:12377 spinal muscular atrophy A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy. url:http://en.wikipedia.org/wiki/Spinal_muscular_atrophy url:http://www.ncbi.nlm.nih.gov/pubmed/26022173 disease_ontology DOID:12378 predominant psychomotor disturbance true disease_ontology DOID:12379 mixed disorder as reaction to stress true disease_ontology DOID:1238 acute erythremia and erythroleukemia in remission true disease_ontology DOID:12380 predominant disturbance of consciousness true MESH:D017029 SNOMEDCT_US_2016_03_01:193001003 SNOMEDCT_US_2016_03_01:307358009 SNOMEDCT_US_2016_03_01:361123003 SNOMEDCT_US_2016_03_01:407675009 SNOMEDCT_US_2016_03_01:84340007 UMLS_CUI:C0085417 Complex partial epileptic seizure Psychomotor epilepsy Psychomotor epilepsy (disorder) epilepsy, psychomotor psychomotor epilepsy disease_ontology DOID:12382 complex partial epilepsy Complex partial epileptic seizure SNOMEDCT_2005_07_31:407675009 Psychomotor epilepsy SNOMEDCT_2005_07_31:193001003 Psychomotor epilepsy SNOMEDCT_2005_07_31:307358009 Psychomotor epilepsy SNOMEDCT_2005_07_31:84340007 Psychomotor epilepsy (disorder) SNOMEDCT_2005_07_31:361123003 epilepsy, psychomotor MTHICD9_2006:345.4 psychomotor epilepsy CSP2005:0485-7151 An intestinal infectious disease that involves inflammation of the intestines, especially colon, due to chemical irritants, bacteria, protozoa, or parasitic worms, which results in severe diarrhea with passage of mucus and blood. ICD9CM:009.2 MESH:D004403 SNOMEDCT_US_2016_03_01:111939009 SNOMEDCT_US_2016_03_01:154268000 SNOMEDCT_US_2016_03_01:154279005 SNOMEDCT_US_2016_03_01:186165000 SNOMEDCT_US_2016_03_01:186167008 SNOMEDCT_US_2016_03_01:19213003 SNOMEDCT_US_2016_03_01:236076004 SNOMEDCT_US_2016_03_01:266173000 SNOMEDCT_US_2016_03_01:266180003 UMLS_CUI:C0013369 Infectious diarrhea disease_ontology DOID:12384 dysentery An intestinal infectious disease that involves inflammation of the intestines, especially colon, due to chemical irritants, bacteria, protozoa, or parasitic worms, which results in severe diarrhea with passage of mucus and blood. url:http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea url:http://en.wikipedia.org/wiki/Dysentery url:http://www.who.int/topics/dysentery/en/ url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=dysentery Infectious diarrhea ICD9CM_2006:009.2 A primary bacterial infectious disease that results_in infection located_in epithelium of colon, has_material_basis_in Shigella boydii, has_material_basis_in Shigella dysenteriae, has_material_basis_in Shigella flexneri, or has_material_basis_in Shigella sonnei, which produce toxins that can attack the lining of the large intestine, causing swelling, ulcers on the intestinal wall, and bloody diarrhea. The bacteria are transmitted_by ingestion of food and water contaminated with feces. DOID:11378 DOID:12950 DOID:2041 DOID:924 DOID:925 ICD10CM:A03 ICD10CM:A03.0 ICD10CM:A03.1 ICD10CM:A03.2 ICD10CM:A03.9 ICD9CM:004 ICD9CM:004.0 ICD9CM:004.1 ICD9CM:004.2 ICD9CM:004.3 ICD9CM:004.9 KEGG:05131 MESH:D004405 SNOMEDCT_US_2016_03_01:111817006 SNOMEDCT_US_2016_03_01:154272001 SNOMEDCT_US_2016_03_01:186104004 SNOMEDCT_US_2016_03_01:186105003 SNOMEDCT_US_2016_03_01:186108001 SNOMEDCT_US_2016_03_01:187272003 SNOMEDCT_US_2016_03_01:266175007 SNOMEDCT_US_2016_03_01:34335000 SNOMEDCT_US_2016_03_01:36188001 SNOMEDCT_US_2016_03_01:55760004 SNOMEDCT_US_2016_03_01:66301008 UMLS_CUI:C0013371 UMLS_CUI:C0302358 UMLS_CUI:C0302359 UMLS_CUI:C0302360 UMLS_CUI:C0302361 Shigella boydii infectious disease Shigella flexneri infectious disease Shigella gastroenteritis Shigella sonnei infectious disease bacillary dysentery disease_ontology DOID:12385 shigellosis A primary bacterial infectious disease that results_in infection located_in epithelium of colon, has_material_basis_in Shigella boydii, has_material_basis_in Shigella dysenteriae, has_material_basis_in Shigella flexneri, or has_material_basis_in Shigella sonnei, which produce toxins that can attack the lining of the large intestine, causing swelling, ulcers on the intestinal wall, and bloody diarrhea. The bacteria are transmitted_by ingestion of food and water contaminated with feces. url:http://emedicine.medscape.com/article/182767-overview#a0104 url:http://www.merck.com/mmpe/sec14/ch173/ch173q.html?qt=shigellosis&alt=sh Shigella gastroenteritis SNOMEDCT_2005_07_31:36188001 bacillary dysentery CSP2005:1248-4621 A parasitic protozoa infectious disease involving infection caused by Balantidium coli. The trophozoites are capable of attacking the intestinal epithelium, creating ulcers and causing bloody diarrhea. The infectiou has_symptom cramping, has_symptom abdominal pain, has_symptom nausea and has_symptom foul breath. ICD10CM:A07.0 ICD9CM:007.0 MESH:D001447 NCI:C84583 SNOMEDCT_US_2016_03_01:105638003 SNOMEDCT_US_2016_03_01:57725006 UMLS_CUI:C0004692 disease_ontology DOID:12386 balantidiasis A parasitic protozoa infectious disease involving infection caused by Balantidium coli. The trophozoites are capable of attacking the intestinal epithelium, creating ulcers and causing bloody diarrhea. The infectiou has_symptom cramping, has_symptom abdominal pain, has_symptom nausea and has_symptom foul breath. url:http://www.ncbi.nlm.nih.gov/pubmed/14760781 An impaired renal function disease characterized by a complete or partial resistance of the kidneys to vasopressin (ADH). ICD10CM:N25.1 ICD9CM:588.1 MESH:D018500 NCI:C84919 OMIM:125800 OMIM:304800 ORDO:223 SNOMEDCT_US_2016_03_01:111395007 SNOMEDCT_US_2016_03_01:123294004 UMLS_CUI:C0162283 disease_ontology vasopressin-resistant diabetes insipidus DOID:12387 Xref MGI. OMIM mapping submitted by NeuroDevNet. [LS]. nephrogenic diabetes insipidus An impaired renal function disease characterized by a complete or partial resistance of the kidneys to vasopressin (ADH). url:http://en.wikipedia.org/wiki/Nephrogenic_diabetes_insipidus url:http://ghr.nlm.nih.gov/condition/nephrogenic-diabetes-insipidus url:http://rarediseases.info.nih.gov/gard/7178/nephrogenic-diabetes-insipidus/resources/1 url:http://www.merckmanuals.com/professional/genitourinary_disorders/renal_transport_abnormalities/nephrogenic_diabetes_insipidus.html MESH:D020790 NCI:C84933 OMIM:125700 OMIM:304900 SNOMEDCT_US_2016_03_01:154699008 SNOMEDCT_US_2016_03_01:15771004 SNOMEDCT_US_2016_03_01:190484000 SNOMEDCT_US_2016_03_01:267393007 SNOMEDCT_US_2016_03_01:45369008 SNOMEDCT_US_2016_03_01:64410003 UMLS_CUI:C0687720 Pituitary diabetes insipidus Vasopressin deficiency central diabetes insipidus vasopressin defective diabetes insipidus disease_ontology DOID:12388 OMIM mapping confirmed by DO. [SN]. neurohypophyseal diabetes insipidus Pituitary diabetes insipidus SNOMEDCT_2005_07_31:15771004 Vasopressin deficiency SNOMEDCT_2005_07_31:190484000 central diabetes insipidus SNOMEDCT_2005_07_31:154699008 vasopressin defective diabetes insipidus CSP2005:1849-2602 disease_ontology DOID:1239 acute erythremia and erythroleukemia true Leukemic reticuloendotheliosis involving lymph nodes of head, face, and neck Leukemic reticuloendotheliosis of lymph nodes of head, face and neck (disorder) Leukemic reticuloendotheliosis of lymph nodes of head, face and/or neck (disorder) disease_ontology DOID:12392 leukemic reticuloendotheliosis involving lymph nodes of head, face and neck true Leukemic reticuloendotheliosis involving lymph nodes of head, face, and neck ICD9CM_2006:202.41 Leukemic reticuloendotheliosis of lymph nodes of head, face and neck (disorder) SNOMEDCT_2005_07_31:188645002 Leukemic reticuloendotheliosis of lymph nodes of head, face and/or neck (disorder) SNOMEDCT_2005_07_31:93148000 ICD9CM:374.03 SNOMEDCT_US_2016_03_01:20828000 UMLS_CUI:C0155190 disease_ontology DOID:12395 spastic entropion Entropion and trichiasis of eyelid (disorder) Entropion or trichiasis of eyelid NOS (disorder) disease_ontology DOID:12396 entropion and trichiasis of eyelid true Entropion and trichiasis of eyelid (disorder) SNOMEDCT_2005_07_31:267649003 Entropion or trichiasis of eyelid NOS (disorder) SNOMEDCT_2005_07_31:193933009 DOID:14446 ICD9CM:374.00 MESH:D004774 SNOMEDCT_US_2016_03_01:155177005 SNOMEDCT_US_2016_03_01:193928005 SNOMEDCT_US_2016_03_01:246821008 SNOMEDCT_US_2016_03_01:33168009 UMLS_CUI:C0014390 disease_ontology DOID:12397 entropion An impulse control disorder that involves the uncontrollable impulse to gamble, irrespective of the interference the behaviour has on the individual's life. ICD10CM:F63.0 ICD9CM:312.31 MESH:D005715 NCI:C94335 OMIM:606349 SNOMEDCT_US_2016_03_01:18085000 SNOMEDCT_US_2016_03_01:192501004 SNOMEDCT_US_2016_03_01:284524008 UMLS_CUI:C0030662 Compulsive gambling Pathological gambling disease_ontology DOID:12399 OMIM mapping confirmed by DO. [SN]. pathological gambling An impulse control disorder that involves the uncontrollable impulse to gamble, irrespective of the interference the behaviour has on the individual's life. url:http://www.forensicpsychiatry.ca/impulse/gambling.htm Compulsive gambling SNOMEDCT_2005_07_31:284524008 Pathological gambling SNOMEDCT_2005_07_31:192501004 A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells. DOID:9145 ICD10CM:C95 ICD10CM:C95.9 ICD10CM:C95.90 ICD9CM:208 ICD9CM:208.9 MESH:D007938 NCI:C3161 SNOMEDCT_US_2016_03_01:154598008 SNOMEDCT_US_2016_03_01:188762002 SNOMEDCT_US_2016_03_01:188767008 SNOMEDCT_US_2016_03_01:190024009 SNOMEDCT_US_2016_03_01:190025005 SNOMEDCT_US_2016_03_01:190029004 SNOMEDCT_US_2016_03_01:190071003 SNOMEDCT_US_2016_03_01:255049003 SNOMEDCT_US_2016_03_01:87163000 SNOMEDCT_US_2016_03_01:93143009 UMLS_CUI:C0023418 disease_ontology DOID:1240 leukemia A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells. url:http://en.wikipedia.org/wiki/Leukemia url:http://www.cancer.gov/dictionary?CdrID=45343 An impulse control disorder that involves the repeated impulse to steal for no great gain, when he or she has sufficient money to pay for the item and no need for what is stolen. ICD10CM:F63.2 ICD9CM:312.32 MESH:D007174 NCI:C94333 SNOMEDCT_US_2016_03_01:154947009 SNOMEDCT_US_2016_03_01:192503001 SNOMEDCT_US_2016_03_01:69361009 UMLS_CUI:C0022734 Pathological stealing disease_ontology DOID:12400 kleptomania An impulse control disorder that involves the repeated impulse to steal for no great gain, when he or she has sufficient money to pay for the item and no need for what is stolen. url:http://www.forensicpsychiatry.ca/impulse/kleptomania.htm Pathological stealing SNOMEDCT_2005_07_31:192503001 An impulse control disorder that involves the episodic inability to control violent impulses with a disproportionate degree of aggressiveness. DOID:9404 ICD10CM:F60.3 ICD10CM:F63.81 ICD9CM:301.3 ICD9CM:312.34 MESH:D007174 NCI:C94332 SNOMEDCT_US_2016_03_01:191759005 SNOMEDCT_US_2016_03_01:192096007 SNOMEDCT_US_2016_03_01:192488005 SNOMEDCT_US_2016_03_01:231527003 SNOMEDCT_US_2016_03_01:268757006 SNOMEDCT_US_2016_03_01:40987004 UMLS_CUI:C0021776 UMLS_CUI:C0152183 explosive personality disorder disease_ontology DOID:12401 intermittent explosive disorder An impulse control disorder that involves the episodic inability to control violent impulses with a disproportionate degree of aggressiveness. url:http://www.forensicpsychiatry.ca/impulse/explosive.htm An impulse control disorder that involves the uncontrollable impulse to repeatedly set fires with no obvious motive. ICD10CM:F63.1 ICD9CM:312.33 MESH:D005391 NCI:C94334 SNOMEDCT_US_2016_03_01:192502006 SNOMEDCT_US_2016_03_01:248015004 SNOMEDCT_US_2016_03_01:600009 UMLS_CUI:C0016142 Pathological firesetting firesetting behavior disease_ontology DOID:12402 pyromania An impulse control disorder that involves the uncontrollable impulse to repeatedly set fires with no obvious motive. url:http://www.forensicpsychiatry.ca/impulse/pryromania.htm Pathological firesetting SNOMEDCT_2005_07_31:192502006 A dermatophytosis that results_in fungal infection located_in skin of foot, especially between the toes, has_material_basis_in Trichophyton or has_material_basis_in Epidermophyton and has_symptom fissures, has_symptom scaling, has_symptom maceration, and eroded areas between the toes and on the plantar surface of the foot. ICD10CM:B35.3 ICD9CM:110.4 MESH:D014008 SNOMEDCT_US_2016_03_01:154399001 SNOMEDCT_US_2016_03_01:186993002 SNOMEDCT_US_2016_03_01:271427009 SNOMEDCT_US_2016_03_01:6020002 UMLS_CUI:C0040259 Athlete's foot Dermatophytosis of foot disease_ontology ringworm of foot DOID:12403 tinea pedis A dermatophytosis that results_in fungal infection located_in skin of foot, especially between the toes, has_material_basis_in Trichophyton or has_material_basis_in Epidermophyton and has_symptom fissures, has_symptom scaling, has_symptom maceration, and eroded areas between the toes and on the plantar surface of the foot. stedman:rlc url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=athlete%27s%20foot Athlete's foot MTHICD9_2006:110.4 Dermatophytosis of foot ICD9CM_2006:110.4 A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair, and located_in nail, has_material_basis_in Epidermophyton, has_material_basis_in Microsporum, or has_material_basis_in Trichophyton, which invade the dead keratin and has_symptom itchy patches, and has_symptom red rash on the skin. Dermatophytosis-tinea/ringworm Microsporic tinea, NOS ringworm disease_ontology DOID:12404 tinea true A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair, and located_in nail, has_material_basis_in Epidermophyton, has_material_basis_in Microsporum, or has_material_basis_in Trichophyton, which invade the dead keratin and has_symptom itchy patches, and has_symptom red rash on the skin. url:http://emedicine.medscape.com/article/787217-overview Dermatophytosis-tinea/ringworm SNOMEDCT_2005_07_31:266214005 Microsporic tinea, NOS SNOMEDCT_2005_07_31:47382004 ringworm CSP2005:1988-5318 ICD10CM:H44.82 ICD9CM:360.81 SNOMEDCT_US_2016_03_01:20842008 UMLS_CUI:C0154806 Luxation of eye disease_ontology DOID:1241 luxation of globe Luxation of eye SNOMEDCT_2005_07_31:20842008 Psychogenic dysmenorrhea Psychogenic dysmenorrhea (finding) Psychogenic dysmenorrhoea disease_ontology DOID:12417 psychogenic dysmenorrhea true Psychogenic dysmenorrhea SNOMEDCT_2005_07_31:192436003 Psychogenic dysmenorrhea (finding) SNOMEDCT_2005_07_31:191977008 Psychogenic dysmenorrhoea SNOMEDCT_2005_07_31:154924008 Psychogenic dysmenorrhoea SNOMEDCT_2005_07_31:268773000 ICD10CM:H44.39 ICD9CM:360.29 SNOMEDCT_US_2016_03_01:194638007 UMLS_CUI:C0154780 disease_ontology DOID:1242 globe disease ICD9CM:246.0 SNOMEDCT_US_2016_03_01:190303007 UMLS_CUI:C0701822 disorder of thyrocalcitonin secretion disorder of thyrocalcitonin secretion (disorder) disease_ontology DOID:12424 thyrocalcitonin secretion disease disorder of thyrocalcitonin secretion ICD9CM_2006:246.0 disorder of thyrocalcitonin secretion (disorder) SNOMEDCT_2005_07_31:190303007 ICD10CM:C51.1 ICD9CM:184.2 NCI:C7637 SNOMEDCT_US_2016_03_01:363447008 SNOMEDCT_US_2016_03_01:93851005 UMLS_CUI:C0496815 malignant neoplasm of labia minora malignant neoplasm of labia minora (disorder) malignant neoplasm of labium minus malignant tumor of Labia Minora disease_ontology DOID:1243 labia minora cancer malignant neoplasm of labia minora ICD9CM_2006:184.2 malignant neoplasm of labia minora SNOMEDCT_2005_07_31:93851005 malignant neoplasm of labia minora (disorder) SNOMEDCT_2005_07_31:363447008 malignant neoplasm of labium minus MTH:U001388 malignant tumor of Labia Minora NCI2004_11_17:C7637 ICD9CM:378.81 SNOMEDCT_US_2016_03_01:1534008 SNOMEDCT_US_2016_03_01:193169002 SNOMEDCT_US_2016_03_01:194130001 UMLS_CUI:C0702143 Palsy of conjugate gaze disease_ontology DOID:12445 conjugate gaze palsy Palsy of conjugate gaze ICD9CM_2006:378.81 disease_ontology DOID:12448 hematologic pregnancy complication true An anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow. ICD10CM:D61.9 ICD9CM:284.9 MESH:D000741 NCI:C2870 OMIM:609135 SNOMEDCT_US_2016_03_01:154807001 SNOMEDCT_US_2016_03_01:191233006 SNOMEDCT_US_2016_03_01:191258001 SNOMEDCT_US_2016_03_01:267560004 SNOMEDCT_US_2016_03_01:304132006 SNOMEDCT_US_2016_03_01:305047005 SNOMEDCT_US_2016_03_01:306058006 SNOMEDCT_US_2016_03_01:79000000 UMLS_CUI:C0002874 disease_ontology DOID:12449 OMIM mapping confirmed by DO. [SN]. aplastic anemia An anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow. url:http://en.wikipedia.org/wiki/Aplastic_anemia url:http://www.nhlbi.nih.gov/health/health-topics/topics/aplastic/ DOID:1282 ICD10CM:C51 ICD10CM:C51.9 ICD9CM:184.4 MESH:D014846 NCI:C3443 NCI:C7502 SNOMEDCT_US_2016_03_01:126922007 SNOMEDCT_US_2016_03_01:154535008 SNOMEDCT_US_2016_03_01:188214009 SNOMEDCT_US_2016_03_01:269471005 SNOMEDCT_US_2016_03_01:269604005 SNOMEDCT_US_2016_03_01:363367000 SNOMEDCT_US_2016_03_01:94143002 UMLS_CUI:C0042995 UMLS_CUI:C0375071 Ca vulva Vulvar tumor malignant Vulvar tumor malignant neoplasm of vulva unspecified malignant neoplasm of vulva unspecified (disorder) malignant neoplasm of vulva, NOS malignant neoplasm of vulva, unspecified malignant tumor of vulva (disorder) neoplasm of vulva (disorder) vulval cancer vulval neoplasm vulvar neoplasm disease_ontology DOID:1245 vulva cancer Ca vulva SNOMEDCT_2005_07_31:154535008 Ca vulva SNOMEDCT_2005_07_31:269604005 Vulvar tumor NCI2004_11_17:C3443 malignant Vulvar tumor NCI2004_11_17:C7502 malignant neoplasm of vulva unspecified SNOMEDCT_2005_07_31:188214009 malignant neoplasm of vulva unspecified (disorder) SNOMEDCT_2005_07_31:269471005 malignant neoplasm of vulva, NOS SNOMEDCT_2005_07_31:94143002 malignant neoplasm of vulva, unspecified ICD9CM_2006:184.4 malignant tumor of vulva (disorder) SNOMEDCT_2005_07_31:363367000 neoplasm of vulva (disorder) SNOMEDCT_2005_07_31:126922007 vulval cancer CSP2005:2016-2183 vulval neoplasm CSP2005:2016-2183 ICD10CM:D61.81 ICD9CM:284.1 MESH:D010198 NCI:C34889 NCI:C80693 SNOMEDCT_US_2016_03_01:127034005 SNOMEDCT_US_2016_03_01:191250008 SNOMEDCT_US_2016_03_01:267528007 UMLS_CUI:C0030312 disease_ontology DOID:12450 pancytopenia MESH:D013436 SNOMEDCT_US_2016_03_01:191386007 SNOMEDCT_US_2016_03_01:191391008 SNOMEDCT_US_2016_03_01:32117000 UMLS_CUI:C0038732 Sulfemoglobinemia Sulfhemoglobinemia (disorder) disease_ontology DOID:12451 sulfhemoglobinemia Sulfemoglobinemia SNOMEDCT_2005_07_31:191386007 Sulfemoglobinemia SNOMEDCT_2005_07_31:191391008 Sulfhemoglobinemia (disorder) SNOMEDCT_2005_07_31:32117000 ICD10CM:N25.81 ICD9CM:588.81 SNOMEDCT_US_2016_03_01:19034001 SNOMEDCT_US_2016_03_01:31298003 UMLS_CUI:C0271847 hyperparathyroidism due to renal insufficiency secondary hyperparathyroidism (of renal origin) disease_ontology DOID:12465 secondary hyperparathyroidism of renal origin hyperparathyroidism due to renal insufficiency SNOMEDCT_2005_07_31:19034001 secondary hyperparathyroidism (of renal origin) ICD9CM_2006:588.81 MESH:D006962 NCI:C113335 SNOMEDCT_US_2016_03_01:91478007 UMLS_CUI:C0020503 secondary hyperparathyroidism (disorder) secondary hyperparathyroidism NOS disease_ontology DOID:12466 secondary hyperparathyroidism secondary hyperparathyroidism (disorder) SNOMEDCT_2005_07_31:91478007 secondary hyperparathyroidism NOS MTHICD9_2006:588.81 DOID:13997 DOID:9474 ICD10CM:D68.9 ICD9CM:286 MESH:D001778 NCI:C2902 SNOMEDCT_US_2016_03_01:127073005 SNOMEDCT_US_2016_03_01:154815003 SNOMEDCT_US_2016_03_01:191303002 SNOMEDCT_US_2016_03_01:267562007 SNOMEDCT_US_2016_03_01:362970003 SNOMEDCT_US_2016_03_01:64779008 UMLS_CUI:C0005779 postpartum coagulation defect postpartum coagulation defect with delivery disease_ontology DOID:1247 blood coagulation disease A parasitic helminthiasis infectious disease that involves infection of the intestine, liver and lungs caused by Capillaria species. ICD10CM:B81.1 ICD9CM:127.5 SNOMEDCT_US_2016_03_01:52979002 UMLS_CUI:C0006897 Capillaria infection (disorder) disease_ontology DOID:12474 capillariasis A parasitic helminthiasis infectious disease that involves infection of the intestine, liver and lungs caused by Capillaria species. url:http://www.dpd.cdc.gov/DPDx/HTML/Capillariasis.htm Capillaria infection (disorder) SNOMEDCT_2005_07_31:52979002 ICD9CM:726.61 UMLS_CUI:C0158314 disease_ontology DOID:12475 pes anserinus tendinitis or bursitis SNOMEDCT_US_2016_03_01:359610006 SNOMEDCT_US_2016_03_01:76849009 UMLS_CUI:C0155169 hyperEMIA eye hyperemia of conjunctiva disease_ontology DOID:1248 ocular hyperemia hyperEMIA eye MTH:NOCODE hyperemia of conjunctiva ICD9CM_2006:372.71 Conjunctival vascular disorder and cysts (disorder) disease_ontology DOID:1249 Conjunctival vascular disorder and cysts true Conjunctival vascular disorder and cysts (disorder) SNOMEDCT_2005_07_31:193893005 ICD10CM:G52.2 ICD9CM:352.3 MESH:D020421 NCI:C27591 SNOMEDCT_US_2016_03_01:73765005 UMLS_CUI:C0152179 Vagus nerve disorder disorder of pneumogastric [10th] nerve disorder of vagal nerve disorder of vagus nerve (disorder) disease_ontology DOID:12491 Vagus nerve disease Vagus nerve disorder NCI2004_11_17:C27591 disorder of pneumogastric [10th] nerve ICD9CM_2006:352.3 disorder of vagal nerve MTHICD9_2006:352.3 disorder of vagus nerve (disorder) SNOMEDCT_2005_07_31:73765005 NCI:C6373 UMLS_CUI:C1336939 leiomyoma of vagina disease_ontology DOID:125 vagina leiomyoma leiomyoma of vagina NCI2004_11_17:C6373 A facial paralysis resulting from dysfunction in the cranial nerve VII (facial nerve). ICD10CM:G51.0 ICD9CM:351.0 MESH:D020330 SNOMEDCT_US_2016_03_01:155070005 SNOMEDCT_US_2016_03_01:193093009 SNOMEDCT_US_2016_03_01:267703001 SNOMEDCT_US_2016_03_01:79359001 UMLS_CUI:C0376175 Bell palsy Bell's (facial) palsy disease_ontology DOID:12506 Bell's palsy A facial paralysis resulting from dysfunction in the cranial nerve VII (facial nerve). url:http://en.wikipedia.org/wiki/Bell%27s_palsy Bell's (facial) palsy SNOMEDCT_2005_07_31:267703001 disease_ontology DOID:12508 simple type schizophrenia chronic state with acute exacerbation true An urogenital tuberculosis that is located_in epididymis, has_symptom pain and has_symptom scrotal swelling. ICD9CM:016.4 SNOMEDCT_US_2016_03_01:83652003 UMLS_CUI:C0152814 disease_ontology DOID:1251 tuberculous epididymitis An urogenital tuberculosis that is located_in epididymis, has_symptom pain and has_symptom scrotal swelling. url:http://www.nature.com/aja/journal/v7/n3/abs/aja200560a.html ICD10CM:H35.82 ICD9CM:362.84 SNOMEDCT_US_2016_03_01:193427006 SNOMEDCT_US_2016_03_01:26468004 UMLS_CUI:C0162291 disease_ontology DOID:12510 retinal ischemia MESH:D012167 NCI:C50732 SNOMEDCT_US_2016_03_01:155104004 SNOMEDCT_US_2016_03_01:193317004 SNOMEDCT_US_2016_03_01:193343003 SNOMEDCT_US_2016_03_01:232003005 SNOMEDCT_US_2016_03_01:302888003 SNOMEDCT_US_2016_03_01:40024006 SNOMEDCT_US_2016_03_01:95690009 UMLS_CUI:C0035321 Retinal break Retinal dialysis Retinal tear disease_ontology DOID:12514 retinal perforation Retinal break SNOMEDCT_2005_07_31:193343003 Retinal dialysis SNOMEDCT_2005_07_31:232003005 Retinal tear SNOMEDCT_2005_07_31:40024006 A parasitic helminthiasis infectious disease that involves parasitic infection located_in intestine in humans, has_material_basis_in Trichuris trichiura, which is transmitted_by ingestion of food contaminated with egg-carrying soil. The infection has_symptom abdominal pain, has_symptom diarrhea, has_symptom rectal prolapse and has_symptom growth retardation. ICD10CM:B79 ICD9CM:127.3 MESH:D014257 SNOMEDCT_US_2016_03_01:154413002 SNOMEDCT_US_2016_03_01:3752003 SNOMEDCT_US_2016_03_01:60570001 UMLS_CUI:C0040954 Infection by Trichuris trichura Trichuriasis infection Whipworm disease trichuris trichiura infection disease_ontology DOID:1252 trichuriasis A parasitic helminthiasis infectious disease that involves parasitic infection located_in intestine in humans, has_material_basis_in Trichuris trichiura, which is transmitted_by ingestion of food contaminated with egg-carrying soil. The infection has_symptom abdominal pain, has_symptom diarrhea, has_symptom rectal prolapse and has_symptom growth retardation. url:http://en.wikipedia.org/wiki/Trichuriasis url:http://www.dpd.cdc.gov/dpdx/HTML/Trichuriasis.htm Infection by Trichuris trichura SNOMEDCT_2005_07_31:60570001 Trichuriasis infection ICD9CM_2006:127.3 Whipworm disease MTHICD9_2006:127.3 An extrinsic allergic alveolitis that is an industrial disease characterized by cough, difficult breathing, chills, fever, and prolonged weakness caused by the inhalation of the dust of bagasse containing thermophilic actinomycetes. ICD10CM:J67.1 ICD9CM:495.1 MESH:D011009 NCI:C34409 SNOMEDCT_US_2016_03_01:67242002 UMLS_CUI:C0004681 sugar cane worker pneumonitis disease_ontology DOID:12522 bagassosis An extrinsic allergic alveolitis that is an industrial disease characterized by cough, difficult breathing, chills, fever, and prolonged weakness caused by the inhalation of the dust of bagasse containing thermophilic actinomycetes. url:http://www.merck.com/media/mmpe/pdf/Table_055-5.pdf url:http://www.merriam-webster.com/medical/bagassosis sugar cane worker pneumonitis CSP2005:2596-6673 ICD10CM:G57.6 ICD10CM:G57.60 ICD9CM:355.6 SNOMEDCT_US_2016_03_01:193148004 SNOMEDCT_US_2016_03_01:193151006 SNOMEDCT_US_2016_03_01:60525009 UMLS_CUI:C0154752 Lesion of plantar nerve Lesion of plantar nerve, NOS Plantar nerve lesion (disorder) Plantar nerve lesion NOS (disorder) disease_ontology DOID:12524 plantar nerve lesion Lesion of plantar nerve ICD9CM_2006:355.6 Lesion of plantar nerve, NOS SNOMEDCT_2005_07_31:60525009 Plantar nerve lesion (disorder) SNOMEDCT_2005_07_31:193148004 Plantar nerve lesion NOS (disorder) SNOMEDCT_2005_07_31:193151006 Meralgia paraesthetica Meralgia paresthetica Meralgia paresthetica (disorder) disease_ontology DOID:12525 Lateral cutaneous femoral nerve of thigh compression or syndrome true Meralgia paraesthetica SNOMEDCT_2005_07_31:155076004 Meralgia paresthetica ICD9CM_2006:355.1 Meralgia paresthetica (disorder) SNOMEDCT_2005_07_31:85007004 ICD10CM:G57.5 ICD10CM:G57.50 ICD9CM:355.5 MESH:D013641 NCI:C85183 SNOMEDCT_US_2016_03_01:155077008 SNOMEDCT_US_2016_03_01:47374004 UMLS_CUI:C0039319 disease_ontology DOID:12526 tarsal tunnel syndrome ICD10CM:G57.3 ICD10CM:G57.30 ICD9CM:355.3 SNOMEDCT_US_2016_03_01:16006009 SNOMEDCT_US_2016_03_01:399107008 SNOMEDCT_US_2016_03_01:55740007 UMLS_CUI:C0270909 disease_ontology DOID:12527 common peroneal nerve lesion ICD10CM:G57.0 ICD10CM:G57.00 ICD9CM:355.0 MESH:D020426 SNOMEDCT_US_2016_03_01:193144002 SNOMEDCT_US_2016_03_01:367137004 SNOMEDCT_US_2016_03_01:52585001 UMLS_CUI:C0154748 disease_ontology DOID:12528 lesion of sciatic nerve SNOMEDCT_US_2016_03_01:359842002 SNOMEDCT_US_2016_03_01:365258000 UMLS_CUI:C0154751 Tibial nerve palsy (disorder) disease_ontology DOID:12529 tibial nerve palsy Tibial nerve palsy (disorder) SNOMEDCT_2005_07_31:365258000 A Nematoda infectious disease that involves infection by parasitic worms of the class Enoplea, characterized by no body annules, no elaborate amphids, and five or more esophageal glands. enoplida infectious disease disease_ontology DOID:1253 Enoplea infectious disease true A Nematoda infectious disease that involves infection by parasitic worms of the class Enoplea, characterized by no body annules, no elaborate amphids, and five or more esophageal glands. url:http://en.wikipedia.org/wiki/Enoplia url:http://plpnemweb.ucdavis.edu/NEMAPLEX/Taxadata/Enoplia.htm A coagulation protein disease that is a hereditary abnormality which slows the blood clotting process. It arises from a qualitative or quantitative deficiency of von Willebrand factor (vWF), a multimeric protein that is required for platelet adhesion. ICD10CM:D68.0 ICD10CM:D69.8 ICD9CM:286.4 MESH:D014842 NCI:C68677 OMIM:193400 OMIM:277480 OMIM:613554 SNOMEDCT_US_2016_03_01:11093006 SNOMEDCT_US_2016_03_01:128105004 SNOMEDCT_US_2016_03_01:154819009 UMLS_CUI:C0042974 vascular hemophilia vascular pseudohemophilia von Willebrand disease von Willebrand disorder von Willebrand's-Jurgens' disease von Willebrand-Jrgens disease disease_ontology DOID:12531 OMIM mapping confirmed by DO. [SN]. von Willebrand's disease A coagulation protein disease that is a hereditary abnormality which slows the blood clotting process. It arises from a qualitative or quantitative deficiency of von Willebrand factor (vWF), a multimeric protein that is required for platelet adhesion. url:http://en.wikipedia.org/wiki/Von_Willebrand_disease url:http://ghr.nlm.nih.gov/condition/von-willebrand-disease vascular hemophilia CSP2005:0438-9190 vascular pseudohemophilia MTHICD9_2006:287.8 von Willebrand disorder SNOMEDCT_2005_07_31:128105004 von Willebrand's-Jurgens' disease MTHICD9_2006:286.4 von Willebrand-Jrgens disease SNOMEDCT_2005_07_31:11093006 ICD9CM:724.71 SNOMEDCT_US_2016_03_01:202809009 SNOMEDCT_US_2016_03_01:22903002 SNOMEDCT_US_2016_03_01:247367007 UMLS_CUI:C0158295 Coccygeal hypermobility syndrome (disorder) hypermobility of coccyx (disorder) hypermobility of the coccyx (disorder) disease_ontology DOID:12537 hypermobility of coccyx Coccygeal hypermobility syndrome (disorder) SNOMEDCT_2005_07_31:247367007 hypermobility of coccyx (disorder) SNOMEDCT_2005_07_31:22903002 hypermobility of the coccyx (disorder) SNOMEDCT_2005_07_31:202809009 venereal disease of pharynx due to Chlamydia trachomatis disease_ontology DOID:12538 Chlamydia trachomatis pharyngitis true Chlamydial infection of anus and rectum (disorder) Venereal disease of the anus and rectum due to Chlamydia trachomatis disease_ontology DOID:12539 Chlamydia trachomatis proctitis true Chlamydial infection of anus and rectum (disorder) SNOMEDCT_2005_07_31:186731007 Venereal disease of the anus and rectum due to Chlamydia trachomatis ICD9CM_2006:099.52 A trichostrongyloidiasis that involves infection of the small intestine with Trichostrongylus colubriformis or Trichostrongylus axei, which results in abdominal pain, diarrhea, anorexia, headache, fatigue, anemia and eosinophilia. ICD10CM:B81.2 ICD9CM:127.6 MESH:D014253 SNOMEDCT_US_2016_03_01:33710003 UMLS_CUI:C0040948 Infection by Trichostrongylus Infection by Trichostrongylus species Trichostrongyliasis disease_ontology DOID:1254 trichostrongylosis A trichostrongyloidiasis that involves infection of the small intestine with Trichostrongylus colubriformis or Trichostrongylus axei, which results in abdominal pain, diarrhea, anorexia, headache, fatigue, anemia and eosinophilia. url:http://www.dpd.cdc.gov/DPDx/HTML/Trichostrongylosis.htm Infection by Trichostrongylus SNOMEDCT_2005_07_31:33710003 Infection by Trichostrongylus species MTHICD9_2006:127.6 Trichostrongyliasis ICD9CM_2006:127.6 disease_ontology DOID:12541 catatonic type schizophrenia subchronic state true disease_ontology DOID:12542 catatonic type schizophrenia subchronic state with acute exacerbation true disease_ontology DOID:12543 catatonic type schizophrenia chronic state with acute exacerbation true ICD10CM:H73.82 ICD9CM:384.82 SNOMEDCT_US_2016_03_01:194323000 SNOMEDCT_US_2016_03_01:72052003 UMLS_CUI:C0155471 disease_ontology DOID:12546 atrophic nonflaccid tympanic membrane A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice. DOID:12547 MESH:D006506 NCI:C3096 SNOMEDCT_US_2016_03_01:154347003 SNOMEDCT_US_2016_03_01:40468003 UMLS_CUI:C0019159 Viral hepatitis, type A (disorder) disease_ontology Viral hepatitis A DOID:12549 hepatitis A A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice. url:http://www.cdc.gov/hepatitis/HAV/index.htm url:http://www.cdc.gov/hepatitis/Resources/Professionals/PDFs/ABCTable.pdf Viral hepatitis, type A (disorder) SNOMEDCT_2005_07_31:40468003 A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by nematodes of the superfamily Trichostrongyloidea. MESH:D014252 UMLS_CUI:C0040947 disease_ontology DOID:1255 trichostrongyloidiasis A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by nematodes of the superfamily Trichostrongyloidea. url:http://en.wikipedia.org/wiki/Strongylida ICD10CM:K72.91 MESH:D006501 SNOMEDCT_US_2016_03_01:155820006 SNOMEDCT_US_2016_03_01:197332007 SNOMEDCT_US_2016_03_01:72836002 UMLS_CUI:C0019147 Hepatocerebral intoxication disease_ontology DOID:12550 hepatic coma Hepatocerebral intoxication MTHICD9_2006:572.2 Septicemia due to E. Coli (disorder) Septicemia due to escherichia coli Septicemia due to escherichia coli [E. coli] disease_ontology DOID:12551 Escherichia coli septicemia true Septicemia due to E. Coli (disorder) SNOMEDCT_2005_07_31:9323009 Septicemia due to escherichia coli MTHICD9_2006:038.42 Septicemia due to escherichia coli [E. coli] ICD9CM_2006:038.42 ICD10CM:D59.3 ICD9CM:283.11 MESH:D006463 NCI:C75545 OMIM:235400 OMIM:612922 OMIM:612923 OMIM:612924 OMIM:612925 OMIM:612926 ORDO:2134 SNOMEDCT_US_2016_03_01:111407006 SNOMEDCT_US_2016_03_01:123308008 UMLS_CUI:C0019061 haemolytic-uraemic syndrome hemolytic uremic syndrome disease_ontology DOID:12554 Xref MGI. hemolytic-uremic syndrome hemolytic uremic syndrome CSP2005:0427-1005 disease_ontology DOID:12555 acute renal failure with lesion of renal cortical necrosis true ICD10CM:N17.0 MESH:D007683 NCI:C34749 SNOMEDCT_US_2016_03_01:197649009 SNOMEDCT_US_2016_03_01:23697004 SNOMEDCT_US_2016_03_01:35455006 UMLS_CUI:C0022672 ATN - acute tubular necrosis acute renal Failure with tubular necrosis acute renal failure with lesion of tubular necrosis acute tubular necrosis acute tubule necrosis disease_ontology DOID:12556 acute kidney tubular necrosis ATN - acute tubular necrosis SNOMEDCT_2005_07_31:23697004 acute renal Failure with tubular necrosis NCI2004_11_17:C34749 acute renal failure with lesion of tubular necrosis ICD9CM_2006:584.5 acute tubular necrosis SNOMEDCT_2005_07_31:197649009 acute tubule necrosis SNOMEDCT_2005_07_31:35455006 ICD10CM:H50.81 ICD9CM:378.71 MESH:D004370 NCI:C84678 OMIM:126800 OMIM:604356 SNOMEDCT_US_2016_03_01:60318001 UMLS_CUI:C0013261 Duane's syndrome Stilling-Turk-Duane syndrome disease_ontology DOID:12557 OMIM mapping confirmed by DO. [SN]. Duane retraction syndrome Duane's syndrome ICD9CM_2006:378.71 Stilling-Turk-Duane syndrome SNOMEDCT_2005_07_31:60318001 ICD10CM:H49.4 ICD9CM:378.72 MESH:D017246 SNOMEDCT_US_2016_03_01:194034008 SNOMEDCT_US_2016_03_01:194126004 SNOMEDCT_US_2016_03_01:46252003 UMLS_CUI:C0162674 chronic progressive external ophthalmoplegia [Ambiguous] progressive external ophthalmoplegia progressive external ophthalmoplegia (disorder) disease_ontology DOID:12558 chronic progressive external ophthalmoplegia chronic progressive external ophthalmoplegia [Ambiguous] SNOMEDCT_2005_07_31:194034008 progressive external ophthalmoplegia ICD9CM_2006:378.72 progressive external ophthalmoplegia (disorder) SNOMEDCT_2005_07_31:46252003 An osteoporosis with no known cause that is characterized by pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis. ICD9CM:733.02 OMIM:259750 SNOMEDCT_US_2016_03_01:3345002 UMLS_CUI:C0158447 Idiopathic osteoporosis (disorder) juvenile osteoporosis disease_ontology DOID:12559 idiopathic juvenile osteoporosis An osteoporosis with no known cause that is characterized by pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis. url:http://www.niams.nih.gov/Health_Info/Bone/Bone_Health/Juvenile/juvenile_osteoporosis.asp#b url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=85193 Idiopathic osteoporosis (disorder) SNOMEDCT_2005_07_31:3345002 ICD10CM:N77.0 ICD9CM:616.51 SNOMEDCT_US_2016_03_01:198230004 SNOMEDCT_US_2016_03_01:86533009 UMLS_CUI:C0156340 disease_ontology DOID:12566 ulceration of vulva A learning disability involving a math disability can cause such difficulties as learning math concepts (such as quantity, place value, and time), difficulty memorizing math facts, difficulty organizing numbers, and understanding how problems are organized on the page. Mathematics disorder disorder of arithmetical skills disease_ontology DOID:12568 dyscalculia A learning disability involving a math disability can cause such difficulties as learning math concepts (such as quantity, place value, and time), difficulty memorizing math facts, difficulty organizing numbers, and understanding how problems are organized on the page. url:http://en.wikipedia.org/wiki/Learning_disability#Types_of_learning_disabilities Mathematics disorder ICD9CM_2006:315.1 disorder of arithmetical skills SNOMEDCT_2005_07_31:47916000 A Chagas disease that involves deterioration of the function of the myocardium caused due to Trypanosoma cruzi infection, which leads to heart rhythm abnormalities and may result in sudden death. DOID:0050017 DOID:0050018 Cardiovascular Trypanosomiasis Chagas' cardiomyopathy Chagas' disease cardiomyopathy Chagas' disease with heart involvement Chagas' disease with heart involvement (disorder) acute chagas' disease with heart involvement chronic chagas' disease with heart involvement disease_ontology DOID:12569 Chagas cardiomyopathy true A Chagas disease that involves deterioration of the function of the myocardium caused due to Trypanosoma cruzi infection, which leads to heart rhythm abnormalities and may result in sudden death. url:http://en.wikipedia.org/wiki/Chagas_disease Cardiovascular Trypanosomiasis NCI2004_11_17:C34462 Chagas' disease cardiomyopathy SNOMEDCT_2005_07_31:186812009 Chagas' disease with heart involvement ICD9CM_2006:086.0 Chagas' disease with heart involvement (disorder) SNOMEDCT_2005_07_31:998008 DOID:1256 DOID:12946 DOID:2259 Transient hypertension of pregnancy, with delivery antepartum transient hypertension of pregnancy postpartum transient hypertension of pregnancy disease_ontology DOID:1257 Transient hypertension of pregnancy true ICD9CM:365.51 SNOMEDCT_US_2016_03_01:32893002 UMLS_CUI:C0152137 disease_ontology DOID:12570 phacolytic glaucoma ICD9CM:365.59 SNOMEDCT_US_2016_03_01:84333006 UMLS_CUI:C0154959 disease_ontology DOID:12571 phacogenic glaucoma ICD10CM:P72.1 ICD9CM:775.3 NCI:C114906 SNOMEDCT_US_2016_03_01:13795004 UMLS_CUI:C0158983 Neonatal thyrotoxicosis (disorder) disease_ontology DOID:12573 neonatal thyrotoxicosis Neonatal thyrotoxicosis (disorder) SNOMEDCT_2005_07_31:13795004 MESH:D015866 NCI:C35111 SNOMEDCT_US_2016_03_01:193451001 SNOMEDCT_US_2016_03_01:43363007 SNOMEDCT_US_2016_03_01:46627006 UMLS_CUI:C0042167 Uveitis, posterior disease_ontology DOID:12574 posterior uveitis Uveitis, posterior MTHICD9_2006:363.20 MESH:D014524 NCI:C79804 SNOMEDCT_US_2016_03_01:95588004 UMLS_CUI:C0041972 Obstruction of urethra (disorder) disease_ontology DOID:12577 urethral obstruction Obstruction of urethra (disorder) SNOMEDCT_2005_07_31:95588004 ICD10CM:Q93.4 ICD9CM:758.31 MESH:D003410 NCI:C34518 OMIM:123450 SNOMEDCT_US_2016_03_01:70173007 UMLS_CUI:C0010314 5p deletion syndrome 5p partial monosomy syndrome (disorder) Cri-du-chat syndrome chromosome 5 short arm deletion syndrome chromosome 5p deletion syndrome disease_ontology DOID:12580 OMIM mapping confirmed by DO. [SN]. Cri-Du-Chat syndrome 5p deletion syndrome NCI2004_11_17:C34518 5p partial monosomy syndrome (disorder) SNOMEDCT_2005_07_31:70173007 Cri-du-chat syndrome ICD9CM_2006:758.31 chromosome 5 short arm deletion syndrome CSP2005:1254-8011 chromosome 5p deletion syndrome MTHICD9_2006:758.31 ICD10CM:M70.2 ICD9CM:726.33 SNOMEDCT_US_2016_03_01:156680002 SNOMEDCT_US_2016_03_01:202930004 SNOMEDCT_US_2016_03_01:270542002 SNOMEDCT_US_2016_03_01:424548006 SNOMEDCT_US_2016_03_01:425940002 SNOMEDCT_US_2016_03_01:63517006 SNOMEDCT_US_2016_03_01:74859007 SNOMEDCT_US_2016_03_01:77299006 UMLS_CUI:C0263962 Bursitis of elbow Bursitis of elbow region Capped elbow Elbow bursitis (& olecranon) Miner's elbow Miners' elbow Shoe boil disease_ontology DOID:12581 olecranon bursitis Bursitis of elbow MTHICD9_2006:726.33 Bursitis of elbow region SNOMEDCT_2005_07_31:239968000 Capped elbow SNOMEDCT_2005_07_31:74859007 Elbow bursitis (& olecranon) SNOMEDCT_2005_07_31:156680002 Miner's elbow SNOMEDCT_2005_07_31:63517006 Miners' elbow MTHICD9_2006:727.2 Shoe boil SNOMEDCT_2005_07_31:77299006 disease_ontology DOID:12582 enthesopathy of elbow true A chromosomal disease that has_material_basis_in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features. ICD10CM:Q93.81 ICD9CM:758.32 MESH:D004062 OMIM:192430 SNOMEDCT_US_2016_03_01:205642004 SNOMEDCT_US_2016_03_01:83092002 UMLS_CUI:C0220704 22q11 Deletion Syndrome Shprintzen syndrome VCF-Velocardiofacial syndrome deletion 22q11.2 syndrome disease_ontology DOID:12583 OMIM mapping confirmed by DO. [LS]. velocardiofacial syndrome A chromosomal disease that has_material_basis_in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=PMID%3A+19243607 Shprintzen syndrome ICD9CM_2006:758.32 VCF-Velocardiofacial syndrome SNOMEDCT_2005_07_31:83092002 deletion 22q11.2 syndrome MTHICD9_2006:758.32 Diabetes mellitus during pregnancy - baby delivered (disorder) disease_ontology DOID:12584 Diabetes mellitus of mother, with delivery true Diabetes mellitus during pregnancy - baby delivered (disorder) SNOMEDCT_2005_07_31:199225007 An oligohydramnios desribing the typical physical appearances of a fetus or neonate due to oligohydramnios experienced in the womb where there is a decrease in amniotic fluid volume sufficient to cause disruptions in morphogenesis of the fetus. ICD10CM:Q60.6 NCI:C40435 SNOMEDCT_US_2016_03_01:204947004 SNOMEDCT_US_2016_03_01:41962002 UMLS_CUI:C0178426 Potter syndrome disease_ontology DOID:12594 Potter's syndrome An oligohydramnios desribing the typical physical appearances of a fetus or neonate due to oligohydramnios experienced in the womb where there is a decrease in amniotic fluid volume sufficient to cause disruptions in morphogenesis of the fetus. url:http://en.wikipedia.org/wiki/Potter_Syndrome MESH:D010249 SNOMEDCT_US_2016_03_01:198164005 SNOMEDCT_US_2016_03_01:198165006 SNOMEDCT_US_2016_03_01:280483007 SNOMEDCT_US_2016_03_01:37518008 UMLS_CUI:C0030455 pelvic cellulitis disease_ontology DOID:1260 parametritis pelvic cellulitis SNOMEDCT_2005_07_31:198165006 A leukemia that occurs when a hematopoietic stem cell undergoes malignant transformation into a primitive, undifferentiated cell with abnormal longevity. These lymphocytes (acute lymphocytic leukemia [ALL]) or myeloid cells (acute myelocytic leukemia [AML]) proliferate abnormally, replacing normal marrow tissue and hematopoietic cells and inducing anemia, thrombocytopenia, and granulocytopenia. DOID:12621 ICD10CM:C95.0 ICD10CM:C95.00 ICD9CM:208.0 NCI:C9298 NCI:C9300 OMIM:308960 SNOMEDCT_US_2016_03_01:154599000 SNOMEDCT_US_2016_03_01:188763007 SNOMEDCT_US_2016_03_01:24072005 SNOMEDCT_US_2016_03_01:91855006 UMLS_CUI:C0085669 UMLS_CUI:C1378511 Stem cell Leukemia Stem cell leukaemia disease_ontology DOID:12603 acute leukemia A leukemia that occurs when a hematopoietic stem cell undergoes malignant transformation into a primitive, undifferentiated cell with abnormal longevity. These lymphocytes (acute lymphocytic leukemia [ALL]) or myeloid cells (acute myelocytic leukemia [AML]) proliferate abnormally, replacing normal marrow tissue and hematopoietic cells and inducing anemia, thrombocytopenia, and granulocytopenia. url:http://en.wikipedia.org/wiki/Acute_leukemia url:http://www.merck.com/mmpe/sec11/ch142/ch142b.html Stem cell Leukemia NCI2004_11_17:C9298 Stem cell leukaemia SNOMEDCT_2005_07_31:24072005 secondary malignant neoplasm of adrenal gland secondary malignant neoplasm of adrenal gland (disorder) disease_ontology DOID:12604 secondary malignant neoplasm of suprarenal gland true secondary malignant neoplasm of adrenal gland ICD9CM_2006:198.7 secondary malignant neoplasm of adrenal gland (disorder) SNOMEDCT_2005_07_31:94161006 metastatic tumor to the Adrenals disease_ontology DOID:12605 metastasis to adrenals true metastatic tumor to the Adrenals NCI2004_11_17:C8610 A staphylococcal infectious disease that is caused due to the infection by Gram-positive bacterium Staphylococcus aureus, which is an important cause of hospital-acquired infection that results in the formation of abscesses, empyema, pneumothorax, and cyst. DOID:12607 Staphylococcus aureus pneumonia pneumonia due to staphylococcus aureus disease_ontology DOID:12608 staphylococcal pneumonia true A staphylococcal infectious disease that is caused due to the infection by Gram-positive bacterium Staphylococcus aureus, which is an important cause of hospital-acquired infection that results in the formation of abscesses, empyema, pneumothorax, and cyst. url:http://www.ncbi.nlm.nih.gov/sites/entrez/13542104 disease_ontology DOID:1261 AIDS-related pelvic inflammatory disease true disease_ontology DOID:12610 adrenal hemorrhage of fetus or newborn true disease_ontology DOID:12612 gastrointestinal hemorrhage of fetus or newborn true An actinomycosis that involves invasion and infiltration located_in head and located_in neck, has_material_basis_in Actinomyces israelii. The infection results_in_formation_of abscesses following oral surgery or in patients with poor dental hygiene. Cervicofacial actinomycotic infection Lumpy jaw disease_ontology DOID:12633 cervicofacial actinomycosis true An actinomycosis that involves invasion and infiltration located_in head and located_in neck, has_material_basis_in Actinomyces israelii. The infection results_in_formation_of abscesses following oral surgery or in patients with poor dental hygiene. url:http://emedicine.medscape.com/article/211587-overview url:http://www.scipub.org/fulltext/ajid/ajid43204-208.pdf Cervicofacial actinomycotic infection ICD9CM_2006:039.3 Lumpy jaw SNOMEDCT_2005_07_31:398697005 An actinomycosis that involves invasion and infiltration located_in brain, has_material_basis_in Actinomyces israelii. The infection results_in_formation_of brain abscess. Actinomycotic Cerebral abscess Actinomycotic brain abscess (disorder) cerebral actinomycoma disease_ontology DOID:12634 cerebral actinomycosis true An actinomycosis that involves invasion and infiltration located_in brain, has_material_basis_in Actinomyces israelii. The infection results_in_formation_of brain abscess. url:http://journals.lww.com/smajournalonline/Citation/1965/02000/Cerebral_Abscess_due_to_Actinomyces_Israeli.18.aspx url:http://www.ncbi.nlm.nih.gov/pubmed/18603353 Actinomycotic Cerebral abscess NCI2004_11_17:C27100 Actinomycotic brain abscess (disorder) SNOMEDCT_2005_07_31:230209006 ICD10CM:N81.81 ICD9CM:618.05 UMLS_CUI:C1456251 disease_ontology DOID:12637 perineocele A pyloric stenosis characterized by the enlargement of the muscle surrounding the pylorus, causing severe projectile non-bilious vomiting. ICD10CM:Q40.0 ICD9CM:750.5 MESH:D046248 NCI:C98952 OMIM:179010 OMIM:300711 OMIM:610260 OMIM:612017 OMIM:612525 SNOMEDCT_US_2016_03_01:48644003 UMLS_CUI:C0700639 congenital hypertrophic pyloric stenosis congenital or infantile stricture of pylorus disease_ontology DOID:12638 Xref MGI. hypertrophic pyloric stenosis A pyloric stenosis characterized by the enlargement of the muscle surrounding the pylorus, causing severe projectile non-bilious vomiting. url:http://en.wikipedia.org/wiki/Pyloric_stenosis congenital or infantile stricture of pylorus MTHICD9_2006:750.5 ICD10CM:K31.1 MESH:D011707 NCI:C34966 SNOMEDCT_US_2016_03_01:367403001 UMLS_CUI:C0034194 disease_ontology DOID:12639 pyloric stenosis ICD10CM:Q40.1 ICD9CM:750.6 SNOMEDCT_US_2016_03_01:47028006 UMLS_CUI:C0158674 Congenital hiatus hernia Congenital hiatus hernia (disorder) disease_ontology DOID:12641 displacement of cardia through esophageal hiatus Congenital hiatus hernia ICD9CM_2006:750.6 Congenital hiatus hernia (disorder) SNOMEDCT_2005_07_31:47028006 ICD10CM:K44 MESH:D006551 NCI:C98945 OMIM:142400 SNOMEDCT_US_2016_03_01:155748004 SNOMEDCT_US_2016_03_01:196901006 SNOMEDCT_US_2016_03_01:196910003 SNOMEDCT_US_2016_03_01:196914007 SNOMEDCT_US_2016_03_01:236053002 SNOMEDCT_US_2016_03_01:266511003 SNOMEDCT_US_2016_03_01:309811003 SNOMEDCT_US_2016_03_01:3662000 SNOMEDCT_US_2016_03_01:84089009 UMLS_CUI:C0267725 UMLS_CUI:C0376710 UMLS_CUI:C3489393 Diaphragmatic - hiatus -hernia hiatal hernia disease_ontology DOID:12642 OMIM mapping confirmed by DO. [SN]. hiatus hernia Diaphragmatic - hiatus -hernia SNOMEDCT_2005_07_31:155748004 disease_ontology DOID:12647 Congenital or acquired abnormality of vulva, with delivery true An organ system cancer located_in the genitourinary system that is characterized by uncontrolled cellular proliferation in reproductive and urinary organs. disease_ontology DOID:1265 genitourinary cancer true An organ system cancer located_in the genitourinary system that is characterized by uncontrolled cellular proliferation in reproductive and urinary organs. url:http://en.wikipedia.org/wiki/Genitourinary_system url:http://en.wikipedia.org/wiki/Urogenital_neoplasm disease_ontology DOID:12651 disorder of optic chiasm associated with inflammatory disorder true ICD10CM:H93.3 ICD10CM:H93.3X ICD9CM:388.5 MESH:D000160 NCI:C27207 SNOMEDCT_US_2016_03_01:194402005 SNOMEDCT_US_2016_03_01:77949003 UMLS_CUI:C0001163 acoustic nerve disease disease_ontology DOID:12657 vestibulocochlear nerve disease acoustic nerve disease ICD9CM_2006:388.5 ICD10CM:K03.5 ICD9CM:521.6 MESH:D020254 OMIM:157950 SNOMEDCT_US_2016_03_01:14901003 UMLS_CUI:C0155930 Ankylosis of teeth Ankylosis of tooth (disorder) disease_ontology DOID:12661 OMIM mapping confirmed by DO. [LS]. tooth ankylosis Ankylosis of teeth ICD9CM_2006:521.6 Ankylosis of tooth (disorder) SNOMEDCT_2005_07_31:14901003 A primary systemic mycosis that results_in systemic fungal infection located_in mucosa, located_in lymph nodes, located_in bone, located_in skin or located_in lungs, has_material_basis_in Paracoccidioides brasiliensis. ICD10CM:B41 ICD10CM:B41.9 ICD9CM:116.1 MESH:D010229 NCI:C34891 SNOMEDCT_US_2016_03_01:187074005 SNOMEDCT_US_2016_03_01:187486002 SNOMEDCT_US_2016_03_01:36866003 SNOMEDCT_US_2016_03_01:59925007 UMLS_CUI:C0030409 Mucocutaneous-lymphangitic paracoccidioidomycosis Mucocutaneous-lymphangitic paracoccidioidomycosis (disorder) Paracoccidioidomycosis (disorder) Paracoccidioidomycosis NOS (disorder) Paracoccidioidomycosis, unspecified (disorder) paracoccidioidal mycosis disease_ontology DOID:12662 paracoccidioidomycosis A primary systemic mycosis that results_in systemic fungal infection located_in mucosa, located_in lymph nodes, located_in bone, located_in skin or located_in lungs, has_material_basis_in Paracoccidioides brasiliensis. url:http://www.mycology.adelaide.edu.au/Mycoses/Dimorphic_systemic/Paracoccidioidomycosis/ Mucocutaneous-lymphangitic paracoccidioidomycosis MTHICD9_2006:116.1 Mucocutaneous-lymphangitic paracoccidioidomycosis (disorder) SNOMEDCT_2005_07_31:36866003 Paracoccidioidomycosis (disorder) SNOMEDCT_2005_07_31:59925007 Paracoccidioidomycosis NOS (disorder) SNOMEDCT_2005_07_31:187074005 Paracoccidioidomycosis, unspecified (disorder) SNOMEDCT_2005_07_31:187486002 paracoccidioidal mycosis CSP2005:1988-4119 A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom skin lesions, has_symptom lung lesions and has_symptom pleural thickening. DOID:13067 CSP:1988-4119 ICD10CM:B40 ICD10CM:B40.9 ICD9CM:116 ICD9CM:116.0 MESH:D001759 NCI:C34428 NCI:C34429 SNOMEDCT_US_2016_03_01:10673008 SNOMEDCT_US_2016_03_01:154402000 SNOMEDCT_US_2016_03_01:187064007 SNOMEDCT_US_2016_03_01:187071002 SNOMEDCT_US_2016_03_01:187075006 SNOMEDCT_US_2016_03_01:187484004 SNOMEDCT_US_2016_03_01:191950004 SNOMEDCT_US_2016_03_01:266217003 SNOMEDCT_US_2016_03_01:69996000 UMLS_CUI:C0005716 Blastomyces Dermatitidis Infection Blastomycotic infection Chicago disease Gilchrist's disease Infection by Blastomyces dermatitidis North American blastomycosis disease_ontology DOID:12663 blastomycosis A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom skin lesions, has_symptom lung lesions and has_symptom pleural thickening. url:http://en.wikipedia.org/wiki/Blastomycosis url:http://www.accessmedicine.com/resourceTOC.aspx?resourceID=4 Blastomyces Dermatitidis Infection NCI2004_11_17:C34429 Blastomycotic infection ICD9CM_2006:116 Chicago disease MTHICD9_2006:116.0 Gilchrist's disease SNOMEDCT_2005_07_31:189622001 Infection by Blastomyces dermatitidis SNOMEDCT_2005_07_31:191950004 North American blastomycosis MTH:NOCODE DOID:12671 ICD10CM:H53.30 ICD9CM:368.30 NCI:C34422 SNOMEDCT_US_2016_03_01:193658001 SNOMEDCT_US_2016_03_01:83275001 UMLS_CUI:C0005461 simultaneous visual perception without fusion disease_ontology DOID:12667 binocular vision disease ICD10CM:H53.31 ICD9CM:368.34 SNOMEDCT_US_2016_03_01:79195003 UMLS_CUI:C0155010 disease_ontology DOID:12668 abnormal retinal correspondence Fusion with defective stereopsis (disorder) disease_ontology DOID:12670 fusion with defective stereopsis true Fusion with defective stereopsis (disorder) SNOMEDCT_2005_07_31:32919003 ICD10CM:E83.52 ICD9CM:275.42 MESH:D006934 NCI:C3112 SNOMEDCT_US_2016_03_01:154752005 SNOMEDCT_US_2016_03_01:166702002 SNOMEDCT_US_2016_03_01:267505006 SNOMEDCT_US_2016_03_01:66931009 UMLS_CUI:C0020437 disease_ontology DOID:12678 hypercalcemia MESH:D009397 NCI:C84918 SNOMEDCT_US_2016_03_01:154752005 SNOMEDCT_US_2016_03_01:190863003 SNOMEDCT_US_2016_03_01:267505006 SNOMEDCT_US_2016_03_01:48638002 UMLS_CUI:C0027709 disease_ontology DOID:12679 nephrocalcinosis ICD9CM:335.23 MESH:D020828 SNOMEDCT_US_2016_03_01:7379000 UMLS_CUI:C0033790 Pseudobulbar palsy Pseudobulbar palsy (disorder) pseudobulbar paralysis disease_ontology DOID:12680 pseudobulbar palsy Pseudobulbar palsy ICD9CM_2006:335.23 Pseudobulbar palsy (disorder) SNOMEDCT_2005_07_31:7379000 pseudobulbar paralysis CSP2005:4000-0300 A inner ear infectious disease caused by a viral infection which involves inflammation of the vestibular nerve. It usually results as a complication of an upper respiratory infection. This causes sudden and severe vertigo, nausea and vomiting. Auditory symptoms are usually absent. ICD10CM:A88.1 ICD10CM:H81.2 ICD10CM:H81.20 ICD9CM:078.81 ICD9CM:386.12 MESH:D020338 SNOMEDCT_US_2016_03_01:123053001 SNOMEDCT_US_2016_03_01:155236001 SNOMEDCT_US_2016_03_01:186738001 SNOMEDCT_US_2016_03_01:194356004 SNOMEDCT_US_2016_03_01:232293008 SNOMEDCT_US_2016_03_01:34243007 SNOMEDCT_US_2016_03_01:43680000 UMLS_CUI:C0751908 Epidemic neurolabyrinthitis Vestibular neuritis disease_ontology DOID:12683 vestibular neuronitis A inner ear infectious disease caused by a viral infection which involves inflammation of the vestibular nerve. It usually results as a complication of an upper respiratory infection. This causes sudden and severe vertigo, nausea and vomiting. Auditory symptoms are usually absent. url:http://en.wikipedia.org/wiki/Vestibular_neuritis url:http://www.ncbi.nlm.nih.gov/pubmed/16448876 Epidemic neurolabyrinthitis SNOMEDCT_2005_07_31:43680000 Vestibular neuritis SNOMEDCT_2005_07_31:186738001 A communication disorder that involves both the receptive and expressive areas of communication may be affected in any degree, from mild to severe. ICD10CM:F80.2 ICD9CM:315.32 NCI:C92563 SNOMEDCT_US_2016_03_01:25766007 UMLS_CUI:C0236827 disease_ontology DOID:12685 mixed receptive-expressive language disorder A communication disorder that involves both the receptive and expressive areas of communication may be affected in any degree, from mild to severe. url:http://en.wikipedia.org/wiki/Mixed_receptive-expressive_language_disorder CSP:2012-6947 MESH:D009464 NCI:C3276 SNOMEDCT_US_2016_03_01:126949007 SNOMEDCT_US_2016_03_01:154621002 SNOMEDCT_US_2016_03_01:269643009 SNOMEDCT_US_2016_03_01:389982003 SNOMEDCT_US_2016_03_01:985004 UMLS_CUI:C0027859 Vestibular Neurilemmoma Vestibular schwannoma disease_ontology DOID:12689 acoustic neuroma Vestibular Neurilemmoma NCI2004_11_17:C3276 Vestibular schwannoma SNOMEDCT_2005_07_31:389982003 tuberculosis of thyroid gland disease_ontology DOID:1269 thyroid gland tuberculosis true DOID:12695 DOID:12696 hyperemesis gravidarum with metabolic disturbance - delivered (disorder) hyperemesis gravidarum with metabolic disturbance, antepartum hyperemesis gravidarum with metabolic disturbance, delivered disease_ontology DOID:12694 hyperemesis gravidarum with metabolic disturbance true hyperemesis gravidarum with metabolic disturbance - delivered (disorder) SNOMEDCT_2005_07_31:199027009 A nervous system disease that is characterized by complete paralysis of all voluntary muscles except for the ones that control the movements of the eyes. ICD10CM:G83.5 ICD9CM:344.81 MESH:D011782 SNOMEDCT_US_2016_03_01:38023001 UMLS_CUI:C0023944 Locked in syndrome Locked-in state disease_ontology DOID:12697 locked-in syndrome A nervous system disease that is characterized by complete paralysis of all voluntary muscles except for the ones that control the movements of the eyes. url:http://rarediseases.org/rare-diseases/locked-in-syndrome/ Locked in syndrome SNOMEDCT_2005_07_31:38023001 Locked-in state ICD9CM_2006:344.81 ICD10CM:N62 MESH:D006177 NCI:C3073 SNOMEDCT_US_2016_03_01:155963008 SNOMEDCT_US_2016_03_01:198112004 SNOMEDCT_US_2016_03_01:266646002 SNOMEDCT_US_2016_03_01:4754008 UMLS_CUI:C0018418 disease_ontology DOID:12698 gynecomastia A cell type benign neoplasm that is a benign tumor of smooth muscle cells. MESH:D007889 NCI:C3157 SNOMEDCT_US_2016_03_01:189787000 SNOMEDCT_US_2016_03_01:189788005 SNOMEDCT_US_2016_03_01:189793008 SNOMEDCT_US_2016_03_01:702978006 UMLS_CUI:C0023267 leiomyomatous neoplasm (morphologic abnormality) leiomyomatous tumor disease_ontology DOID:127 leiomyoma A cell type benign neoplasm that is a benign tumor of smooth muscle cells. url:http://en.wikipedia.org/wiki/Cancer url:http://en.wikipedia.org/wiki/Leiomyoma leiomyomatous neoplasm (morphologic abnormality) SNOMEDCT_2005_07_31:189787000 leiomyomatous tumor NCI2004_11_17:C3157 An autosomal dominant disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins. ICD10CM:I78.0 ICD9CM:448.0 MESH:D013683 NCI:C35064 OMIM:187300 OMIM:600376 OMIM:601101 OMIM:615506 ORDO:774 SNOMEDCT_US_2016_03_01:155449008 SNOMEDCT_US_2016_03_01:21877004 SNOMEDCT_US_2016_03_01:266324004 UMLS_CUI:C0039445 Osler hemorrhagic telangiectasia syndrome Osler-Weber-Rendu disease Rendu-Osler-Weber disease disease_ontology DOID:1270 Xref MGI. OMIM mapping confirmed by DO. [SN]. hereditary hemorrhagic telangiectasia An autosomal dominant disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins. url:http://en.wikipedia.org/wiki/Hereditary_hemorrhagic_telangiectasia url:http://ghr.nlm.nih.gov/condition/hereditary-hemorrhagic-telangiectasia url:http://www.ncbi.nlm.nih.gov/books/NBK1351/ Osler-Weber-Rendu disease NCI2004_11_17:C35064 Rendu-Osler-Weber disease MTHICD9_2006:448.0 An acquired metabolic disease that has_material_basis_in the presence of abnormally-high levels of prolactin in the blood. DOID:12699 ICD10CM:E22.1 MESH:D002640 MESH:D006966 NCI:C113168 SNOMEDCT_US_2016_03_01:190468001 SNOMEDCT_US_2016_03_01:21170004 SNOMEDCT_US_2016_03_01:237662005 SNOMEDCT_US_2016_03_01:367422005 SNOMEDCT_US_2016_03_01:85039006 UMLS_CUI:C0008043 UMLS_CUI:C0020514 Chiari-Frommel syndrome Pregnancy-related A-G syndrome (disorder) hyperprolactinaemia disease_ontology DOID:12700 hyperprolactinemia An acquired metabolic disease that has_material_basis_in the presence of abnormally-high levels of prolactin in the blood. url:http://en.wikipedia.org/wiki/Hyperprolactinemia Pregnancy-related A-G syndrome (disorder) SNOMEDCT_2005_07_31:85039006 hyperprolactinaemia SNOMEDCT_2005_07_31:190468001 disease_ontology DOID:12702 Rotator cuff shoulder syndrome and allied disorder true MESH:D001260 NCI:C2887 OMIM:208900 SNOMEDCT_US_2016_03_01:68504005 UMLS_CUI:C0004135 Boder-Sedgwick syndrome Louis Bar syndrome disease_ontology DOID:12704 OMIM mapping confirmed by DO. [SN]. ataxia telangiectasia Louis Bar syndrome CSP2005:0485-2495 DOID:0050555 ICD9CM:334.0 MESH:D005621 NCI:C84718 OMIM:229300 OMIM:601992 SNOMEDCT_US_2016_03_01:10394003 SNOMEDCT_US_2016_03_01:155011003 UMLS_CUI:C0016719 Friedreich ataxia 1 Friedreich's ataxia Friedreich's tabes disease_ontology DOID:12705 Xref MGI. Friedreich ataxia Friedreich's ataxia ICD9CM_2006:334.0 Friedreich's tabes CSP2005:0485-3493 ICD10CM:G11.1 MESH:D002527 OMIM:213400 SNOMEDCT_US_2016_03_01:192871008 SNOMEDCT_US_2016_03_01:41009006 SNOMEDCT_US_2016_03_01:73495003 UMLS_CUI:C0007761 Dyssynergia cerebellaris myoclonica progressive cerebellar tremor disease_ontology DOID:12707 OMIM mapping confirmed by DO. [SN]. myoclonic cerebellar dyssynergia Dyssynergia cerebellaris myoclonica MTHICD9_2006:334.2 progressive cerebellar tremor SNOMEDCT_2005_07_31:41009006 A vascular disease that is located_in the capillaries. ICD10CM:I78 ICD10CM:I78.9 ICD9CM:448 SNOMEDCT_US_2016_03_01:155446001 SNOMEDCT_US_2016_03_01:155449008 SNOMEDCT_US_2016_03_01:195250004 SNOMEDCT_US_2016_03_01:195380006 SNOMEDCT_US_2016_03_01:195390003 SNOMEDCT_US_2016_03_01:266324004 SNOMEDCT_US_2016_03_01:57223003 SNOMEDCT_US_2016_03_01:58729003 UMLS_CUI:C0155765 disease of capillaries disease_ontology DOID:1271 capillary disease A vascular disease that is located_in the capillaries. url:http://en.wikipedia.org/wiki/Capillary#Pathophysiology An African histoplasmosis that results_in inflammation located_in lung, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom mediastinal lymphadenopathy, has_symptom cough and has_symptom chest pain. pulmonary African histoplasmosis (disorder) disease_ontology DOID:12710 Histoplasma duboisii pneumonia true An African histoplasmosis that results_in inflammation located_in lung, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom mediastinal lymphadenopathy, has_symptom cough and has_symptom chest pain. url:http://www.doctorfungus.org/Mycoses/human/histo/histoplamosis_d.htm url:http://www.jstor.org/stable/pdfplus/4547765.pdf url:http://www.springerlink.com/content/dl7677h135470438/fulltext.pdf pulmonary African histoplasmosis (disorder) SNOMEDCT_2005_07_31:187052004 A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Piedraia hortae, an ascomycetous fungus forming hard black nodules on the shafts of the scalp, beard, moustache and pubic hair. ICD10CM:B36.3 ICD9CM:111.3 MESH:D010854 SNOMEDCT_US_2016_03_01:154408001 SNOMEDCT_US_2016_03_01:266218008 SNOMEDCT_US_2016_03_01:33666009 SNOMEDCT_US_2016_03_01:402135006 UMLS_CUI:C0031898 UMLS_CUI:C0153249 disease_ontology DOID:12711 Adding additional UMLS CUI. UMLS has piedra, black piedra and white piedra combined. DO has these as distinct diseases. black piedra A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Piedraia hortae, an ascomycetous fungus forming hard black nodules on the shafts of the scalp, beard, moustache and pubic hair. url:http://en.wikipedia.org/wiki/Black_piedra url:http://mycology.adelaide.edu.au/Mycoses/Superficial/Black_piedra/ An autosomal recessive disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy). ICD10CM:Q61.5 NCI:C123200 OMIM:PS256100 ORDO:655 SNOMEDCT_US_2016_03_01:204958008 SNOMEDCT_US_2016_03_01:204961009 UMLS_CUI:C0687120 medullary cystic disease medullary cystic kidney disease_ontology DOID:12712 Xref MGI. OMIM mapping confirmed by DO. [SN]. nephronophthisis An autosomal recessive disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy). url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2770134/ medullary cystic kidney ICD9CM_2006:753.16 Medullary Sponge kidney Medullary sponge kidney (disorder) Sponge kidney disease_ontology DOID:12713 medullary sponge kidney true Medullary Sponge kidney NCI2004_11_17:C34751 Medullary sponge kidney (disorder) SNOMEDCT_2005_07_31:236443009 Sponge kidney SNOMEDCT_2005_07_31:204954005 Sponge kidney SNOMEDCT_2005_07_31:82525005 ICD10CM:Q77.6 ICD9CM:756.55 MESH:D004613 NCI:C84684 OMIM:225500 SNOMEDCT_US_2016_03_01:62501005 UMLS_CUI:C0013903 Chondroectodermal dysplasia Chondroectodermal dysplasia (disorder) Ellis-van Creveld syndrome disease_ontology DOID:12714 OMIM mapping confirmed by DO. [SN]. Ellis-Van Creveld syndrome Chondroectodermal dysplasia ICD9CM_2006:756.55 Chondroectodermal dysplasia (disorder) SNOMEDCT_2005_07_31:62501005 Ellis-van Creveld syndrome MTHICD9_2006:756.55 Infective Myositis Infective myositis Infective myositis (disorder) disease_ontology DOID:12715 infectious myositis true Infective Myositis NCI2004_11_17:C26984 Infective myositis ICD9CM_2006:728.0 Infective myositis SNOMEDCT_2005_07_31:156719002 Infective myositis SNOMEDCT_2005_07_31:203008007 Infective myositis (disorder) SNOMEDCT_2005_07_31:29689003 A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts. DOID:11395 DOID:13859 ICD10CM:P22.0 MESH:D006819 OMIM:267450 SNOMEDCT_US_2016_03_01:206281003 SNOMEDCT_US_2016_03_01:26168007 SNOMEDCT_US_2016_03_01:46775006 UMLS_CUI:C0020192 HMD - Hyaline membrane disease Neonatal respiratory Distress syndrome hyaline membrane disease pulmonary hyaline membrane disease pulmonary hypoperfusion syndrome of newborn respiratory distress syndrome of newborn disease_ontology DOID:12716 newborn respiratory distress syndrome A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts. URL:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=respiratory+distress+syndrome HMD - Hyaline membrane disease SNOMEDCT_2005_07_31:46775006 Neonatal respiratory Distress syndrome NCI2004_11_17:C27560 hyaline membrane disease CSP2005:0726-3340 pulmonary hyaline membrane disease MTHICD9_2006:769 pulmonary hypoperfusion syndrome of newborn SNOMEDCT_2005_07_31:206281003 respiratory distress syndrome of newborn SNOMEDCT_2005_07_31:157107007 ICD9CM:098.37 SNOMEDCT_US_2016_03_01:53529004 UMLS_CUI:C0153208 Gonococcal salpingitis disease_ontology DOID:12718 chronic gonococcal salpingitis Gonococcal salpingitis MTHICD9_2006:098.37 MESH:D013684 NCI:C28194 SNOMEDCT_US_2016_03_01:112641009 SNOMEDCT_US_2016_03_01:155449008 SNOMEDCT_US_2016_03_01:247479008 SNOMEDCT_US_2016_03_01:266324004 SNOMEDCT_US_2016_03_01:276328002 UMLS_CUI:C0039446 telangiectasia disease_ontology DOID:1272 telangiectasis telangiectasia NCI2004_11_17:C28194 ICD10CM:I67.2 ICD9CM:437.0 MESH:D002537 NCI:C34459 SNOMEDCT_US_2016_03_01:195220007 SNOMEDCT_US_2016_03_01:266258005 SNOMEDCT_US_2016_03_01:55382008 UMLS_CUI:C0007775 Cerebral atherosclerosis Cerebral atherosclerosis (disorder) disease_ontology DOID:12720 cerebral atherosclerosis Cerebral atherosclerosis ICD9CM_2006:437.0 Cerebral atherosclerosis SNOMEDCT_2005_07_31:195220007 Cerebral atherosclerosis SNOMEDCT_2005_07_31:266258005 Cerebral atherosclerosis (disorder) SNOMEDCT_2005_07_31:55382008 An osteochondrodysplasia that has_material_basis_in defective cartilage mineralization into bone which results_in irregular ossification centers of the located_in hip or located_in knee. The disease has_symptom fatigue, has_symptom joint pain. ICD9CM:756.56 MESH:D010009 OMIM:132400 OMIM:226900 OMIM:600204 OMIM:600969 OMIM:607078 OMIM:614135 ORDO:251 SNOMEDCT_US_2016_03_01:205504001 SNOMEDCT_US_2016_03_01:59708000 UMLS_CUI:C0026760 polyepiphyseal dysplasia disease_ontology DOID:12721 Xref MGI. multiple epiphyseal dysplasia An osteochondrodysplasia that has_material_basis_in defective cartilage mineralization into bone which results_in irregular ossification centers of the located_in hip or located_in knee. The disease has_symptom fatigue, has_symptom joint pain. url:http://emedicine.medscape.com/article/1259038-overview url:http://en.wikipedia.org/wiki/Multiple_epiphyseal_dysplasia url:http://ghr.nlm.nih.gov/condition/multiple-epiphyseal-dysplasia url:http://www.healthline.com/galecontent/multiple-epiphyseal-dysplasia url:http://www.wheelessonline.com/ortho/multiple_epiphyseal_dysplasia malignant neoplasm of liver, specified as secondary metastasis to liver metastatic tumor to the Liver secondary malignant neoplasm of liver (disorder) disease_ontology DOID:12722 liver metastasis true malignant neoplasm of liver, specified as secondary ICD9CM_2006:197.7 metastasis to liver SNOMEDCT_2005_07_31:154568001 metastasis to liver SNOMEDCT_2005_07_31:187780009 metastatic tumor to the Liver NCI2004_11_17:C4758 secondary malignant neoplasm of liver (disorder) SNOMEDCT_2005_07_31:94381002 disease_ontology DOID:12723 lung carcinoma metastatic to the liver true disease_ontology DOID:12724 breast arcinoma metastatic to the liver true DOID:12728 DOID:12729 DOID:12730 Retroverted and incarcerated gravid uterus, delivered Retroverted incarcerated gravid uterus - delivered Retroverted incarcerated gravid uterus - delivered (disorder) antepartum retroverted and incarcerated gravid uterus postpartum retroverted and incarcerated gravid uterus disease_ontology DOID:12727 retroverted incarcerated gravid uterus true Retroverted and incarcerated gravid uterus, delivered ICD9CM_2006:654.31 Retroverted incarcerated gravid uterus - delivered (disorder) SNOMEDCT_2005_07_31:199468005 A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress. MESH:D018357 NCI:C3354 SNOMEDCT_US_2016_03_01:186750007 SNOMEDCT_US_2016_03_01:55735004 UMLS_CUI:C0035235 disease_ontology DOID:1273 respiratory syncytial virus infectious disease A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress. url:http://www.merck.com/mmhe/sec23/ch273/ch273i.html?qt=respiratory%20syncytial%20virus&alt=sh#sec23-ch273-ch273i-982g ICD10CM:H30.2 ICD9CM:363.21 MESH:D015868 NCI:C34903 OMIM:606177 SNOMEDCT_US_2016_03_01:193452008 SNOMEDCT_US_2016_03_01:314428001 SNOMEDCT_US_2016_03_01:45688009 UMLS_CUI:C0030593 Posterior cyclitis disease_ontology DOID:12731 OMIM mapping confirmed by DO. [SN]. pars planitis Posterior cyclitis SNOMEDCT_2005_07_31:193452008 MESH:D015867 NCI:C35110 SNOMEDCT_US_2016_03_01:155118006 SNOMEDCT_US_2016_03_01:193491003 SNOMEDCT_US_2016_03_01:308126005 SNOMEDCT_US_2016_03_01:314429009 SNOMEDCT_US_2016_03_01:398322000 UMLS_CUI:C0042166 chronic cyclitis peripheral uveoretinitis disease_ontology DOID:12732 intermediate uveitis chronic cyclitis SNOMEDCT_2005_07_31:308126005 peripheral uveoretinitis SNOMEDCT_2005_07_31:314429009 ICD10CM:K03.4 ICD9CM:521.5 MESH:D006936 SNOMEDCT_US_2016_03_01:78537008 UMLS_CUI:C0020441 Cementation hyperplasia disease_ontology DOID:12733 hypercementosis Cementation hyperplasia MTHICD9_2006:521.5 ICD10CM:N83.4 ICD9CM:620.4 UMLS_CUI:C0495094 disease_ontology DOID:12735 hernia of ovary and fallopian tube A pulmonary tuberculosis which involves inflammation of bronchi resulting in irregular circumferential bronchial wall thickening that leads to narrowed or even obstructed airways. disease_ontology DOID:12739 bronchial tuberculosis true A pulmonary tuberculosis which involves inflammation of bronchi resulting in irregular circumferential bronchial wall thickening that leads to narrowed or even obstructed airways. url:http://books.google.com/books?id=zOiDtdtyOQEC&pg=PA494&lpg#v=onepage&q=&f=false A Paramyxoviridae infectious disease that results_in infection in cattle and humans, has_material_basis_in Pneumovirus, which is transmitted_by contact with the respiratory secretions. disease_ontology DOID:1275 Pneumovirus infectious disease true A Paramyxoviridae infectious disease that results_in infection in cattle and humans, has_material_basis_in Pneumovirus, which is transmitted_by contact with the respiratory secretions. url:http://expasy.org/viralzone/all_by_species/90.html A coccidiosis that involves infection of the intestine with the parasitic protozoan Cyclospora cayetanensis, which is transmitted by contaminated food and water. The symptoms include watery diarrhea, anorexia, weight loss, abdominal pain, nausea and vomiting, myalgias, low-grade fever, and fatigue. ICD10CM:A07.4 ICD9CM:007.5 MESH:D021866 SNOMEDCT_US_2016_03_01:240372001 UMLS_CUI:C0343398 disease_ontology DOID:12750 cyclosporiasis A coccidiosis that involves infection of the intestine with the parasitic protozoan Cyclospora cayetanensis, which is transmitted by contaminated food and water. The symptoms include watery diarrhea, anorexia, weight loss, abdominal pain, nausea and vomiting, myalgias, low-grade fever, and fatigue. url:http://www.dpd.cdc.gov/DPDx/HTML/Cyclosporiasis.htm ICD10CM:H18.72 ICD9CM:371.73 SNOMEDCT_US_2016_03_01:193849005 SNOMEDCT_US_2016_03_01:52476003 UMLS_CUI:C0152440 disease_ontology DOID:12753 corneal staphyloma ICD9CM:190.7 NCI:C3567 SNOMEDCT_US_2016_03_01:188274004 SNOMEDCT_US_2016_03_01:188275003 SNOMEDCT_US_2016_03_01:93852003 UMLS_CUI:C0153631 malignant neoplasm of lacrimal duct malignant neoplasm of lacrimal duct NOS (disorder) malignant tumor of lacrimal duct disease_ontology DOID:12756 lacrimal duct cancer malignant neoplasm of lacrimal duct ICD9CM_2006:190.7 malignant neoplasm of lacrimal duct SNOMEDCT_2005_07_31:93852003 malignant neoplasm of lacrimal duct NOS (disorder) SNOMEDCT_2005_07_31:188275003 malignant tumor of lacrimal duct NCI2004_11_17:C3567 malignant neoplasm of eyeball excluding conjunctiva, cornea, retina and choroid (disorder) malignant neoplasm of eyeball, except conjunctiva, cornea, retina, and choroid disease_ontology DOID:12758 malignant neoplasm of eyeball, except conjunctiva, cornea, retina and choroid true malignant neoplasm of eyeball excluding conjunctiva, cornea, retina and choroid (disorder) SNOMEDCT_2005_07_31:188261005 malignant neoplasm of eyeball, except conjunctiva, cornea, retina, and choroid ICD9CM_2006:190.0 DOID:12760 ICD10CM:C69.3 ICD9CM:190.6 MESH:D002830 NCI:C2949 NCI:C3566 SNOMEDCT_US_2016_03_01:127001008 SNOMEDCT_US_2016_03_01:363466008 SNOMEDCT_US_2016_03_01:93755007 UMLS_CUI:C0008523 UMLS_CUI:C0153630 Choroidal tumor choroid neoplasm malignant tumor of choroid (disorder) malignant tumor of the Choroid neoplasm of choroid (disorder) disease_ontology DOID:12759 choroid cancer Choroidal tumor NCI2004_11_17:C2949 malignant tumor of choroid (disorder) SNOMEDCT_2005_07_31:363466008 malignant tumor of the Choroid NCI2004_11_17:C3566 neoplasm of choroid (disorder) SNOMEDCT_2005_07_31:127001008 A Kaposi's sarcoma that located_in older men of Italian or Eastern European Jewish origin. Kaposi's sarcoma results_in slow-growing lesions on the legs and feet. Kaposi's sarcoma Classical type disease_ontology DOID:12763 classic Kaposi's sarcoma true A Kaposi's sarcoma that located_in older men of Italian or Eastern European Jewish origin. Kaposi's sarcoma results_in slow-growing lesions on the legs and feet. url:http://www.cancer.gov/cancertopics/pdq/treatment/kaposis/Patient/page2 Kaposi's sarcoma Classical type NCI2004_11_17:C9112 A tonsillitis which involves collection of pus beside the tonsil (peritonsillar space). It is caused by both aerobic and anaerobic bacteria. Commonly involved species include streptococci, staphylococci and hemophilus. Progressively worsening unilateral sore throat and pain during swallowing usually are the earliest symptoms. As the abscess develops, persistent pain in the peritonsillar area, fever, malaise, headache and a distortion of vowels informally known as "hot potato voice" may appear. Neck pain associated with tender, swollen lymph nodes, referred ear pain and halitosis are also common. Peritonsillar abscess Peritonsillar abscess (disorder) Quinsy disease_ontology DOID:12765 peritonsillar abscess true A tonsillitis which involves collection of pus beside the tonsil (peritonsillar space). It is caused by both aerobic and anaerobic bacteria. Commonly involved species include streptococci, staphylococci and hemophilus. Progressively worsening unilateral sore throat and pain during swallowing usually are the earliest symptoms. As the abscess develops, persistent pain in the peritonsillar area, fever, malaise, headache and a distortion of vowels informally known as "hot potato voice" may appear. Neck pain associated with tender, swollen lymph nodes, referred ear pain and halitosis are also common. url:http://en.wikipedia.org/wiki/Peritonsillar_abscess Peritonsillar abscess ICD9CM_2006:475 Peritonsillar abscess SNOMEDCT_2005_07_31:155534002 Peritonsillar abscess (disorder) SNOMEDCT_2005_07_31:15033003 Quinsy MTHICD9_2006:475 A Kaposi's sarcoma that is located_in black Africans. disease_ontology DOID:12773 endemic African Kaposi's sarcoma true A Kaposi's sarcoma that is located_in black Africans. url:http://www.ingentaconnect.com/content/bsc/ced/2001/00000026/00000003/art00009 url:http://www.wrongdiagnosis.com/k/kaposi_sarcoma_endemic_african_form/intro.htm A Kaposi's sarcoma that derives_from the tissue that lines the lymph vessels under the skin or in mucous membranes. recurrent Multiple Hemorrhagic sarcoma disease_ontology DOID:12779 recurrent Kaposi's sarcoma true A Kaposi's sarcoma that derives_from the tissue that lines the lymph vessels under the skin or in mucous membranes. url:http://www.yourcancertoday.com/Cancers/Sarcoma-Kaposi-s/116 recurrent Multiple Hemorrhagic sarcoma NCI2004_11_17:C7935 MESH:D020333 NCI:C85193 SNOMEDCT_US_2016_03_01:75111000 SNOMEDCT_US_2016_03_01:95794005 UMLS_CUI:C0040381 Tolosa-Hunt syndrome Tolosa-Hunt syndrome (disorder) disease_ontology DOID:1278 tolosa-hunt syndrome Tolosa-Hunt syndrome SNOMEDCT_2005_07_31:75111000 Tolosa-Hunt syndrome (disorder) SNOMEDCT_2005_07_31:95794005 ICD9CM:374.14 SNOMEDCT_US_2016_03_01:28914006 UMLS_CUI:C0155196 disease_ontology DOID:12782 cicatricial ectropion A migraine that is characterized by migraine headaches that are not accompanied by an aura. ICD10CM:G43.0 ICD10CM:G43.009 ICD9CM:346.1 MESH:D020326 NCI:C117004 OMIM:607501 SNOMEDCT_US_2016_03_01:193027003 SNOMEDCT_US_2016_03_01:193029000 SNOMEDCT_US_2016_03_01:56097005 UMLS_CUI:C0338480 common migraine disease_ontology DOID:12783 Xref MGI. migraine without aura A migraine that is characterized by migraine headaches that are not accompanied by an aura. url:http://en.wikipedia.org/wiki/Migraine Diabetes mellitus juvenile type, not stated as uncontrolled, with neurological manifestations Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with neurological manifestations disease_ontology DOID:12784 diabetes mellitus insulin dependent type, not stated as uncontrolled, with neurological manifestations true Diabetes mellitus juvenile type, not stated as uncontrolled, with neurological manifestations MTHICD9_2006:250.61 Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with neurological manifestations ICD9CM_2006:250.61 ICD9CM:357.2 MESH:D003929 SNOMEDCT_US_2016_03_01:190349003 SNOMEDCT_US_2016_03_01:193182005 SNOMEDCT_US_2016_03_01:49455004 UMLS_CUI:C0271680 Diabetes mellitus with polyneuropathy Diabetic polyneuropathy (disorder) Polyneuropathy in diabetes disease_ontology DOID:12785 diabetic polyneuropathy Diabetes mellitus with polyneuropathy SNOMEDCT_2005_07_31:190349003 Diabetic polyneuropathy (disorder) SNOMEDCT_2005_07_31:49455004 Polyneuropathy in diabetes ICD9CM_2006:357.2 Polyneuropathy in diabetes SNOMEDCT_2005_07_31:193182005 ICD9CM:378.9 MESH:D015835 SNOMEDCT_US_2016_03_01:45030009 UMLS_CUI:C0028850 disorder of eye movements eye movement disorder disease_ontology DOID:1279 ocular motility disease disorder of eye movements SNOMEDCT_2005_07_31:45030009 eye movement disorder CSP2005:1115-2778 Posterior synechiae (disorder) Posterior synechiae of iris disease_ontology DOID:12796 Posterior synechiae true Posterior synechiae (disorder) SNOMEDCT_2005_07_31:111512005 Posterior synechiae of iris ICD9CM_2006:364.71 A substance abuse that involves the recurring use of hallucinogenic drugs despite negative consequences. ICD10CM:F16.1 ICD9CM:305.3 SNOMEDCT_US_2016_03_01:74851005 UMLS_CUI:C0018526 disease_ontology DOID:12797 hallucinogen abuse A substance abuse that involves the recurring use of hallucinogenic drugs despite negative consequences. url:http://en.wikipedia.org/wiki/Hallucinogen A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine. DOID:14716 ICD10CM:E76.3 ICD9CM:277.5 MESH:D009083 NCI:C61259 OMIM:252700 ORDO:79213 SNOMEDCT_US_2016_03_01:11380006 SNOMEDCT_US_2016_03_01:190936000 SNOMEDCT_US_2016_03_01:190942001 SNOMEDCT_US_2016_03_01:267452003 UMLS_CUI:C0026703 disease_ontology DOID:12798 Xref MGI. OMIM mapping submitted by NeuroDevNet. [LS]. mucopolysaccharidosis A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine. url:http://en.wikipedia.org/wiki/Mucopolysaccharidosis url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Mucopolysaccharidosis A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase. ICD10CM:E76.1 MESH:D016532 NCI:C61260 OMIM:309900 SNOMEDCT_US_2016_03_01:190936000 SNOMEDCT_US_2016_03_01:61413000 SNOMEDCT_US_2016_03_01:70737009 UMLS_CUI:C0026705 Hunter syndrome Hunter's syndrome MPS II - Hunter syndrome Mucopolysaccharidosis, MPS-II (disorder) deficiency of iduronate-2-sulphatase disease_ontology DOID:12799 OMIM mapping submitted by NeuroDevNet. [LS]. mucopolysaccharidosis II A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase. url:http://en.wikipedia.org/wiki/Hunter_syndrome Hunter's syndrome SNOMEDCT_2005_07_31:190936000 Mucopolysaccharidosis, MPS-II (disorder) SNOMEDCT_2005_07_31:70737009 deficiency of iduronate-2-sulphatase SNOMEDCT_2005_07_31:61413000 disease_ontology DOID:128 vaginal soft tissue tumor true A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase. MESH:D009087 NCI:C61264 OMIM:253200 SNOMEDCT_US_2016_03_01:190936000 SNOMEDCT_US_2016_03_01:52677002 SNOMEDCT_US_2016_03_01:69463008 UMLS_CUI:C0026709 MPS VI - Maroteaux-Lamy syndrome Maroteaux - Lamy syndrome Maroteaux-Lamy syndrome arylsulfatase B deficiency deficiency of N-acetylgalactosamine-4-sulfatase (disorder) disease_ontology DOID:12800 OMIM mapping confirmed by DO. [SN]. mucopolysaccharidosis VI A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase. url:http://en.wikipedia.org/wiki/Maroteaux-Lamy_syndrome Maroteaux - Lamy syndrome SNOMEDCT_2005_07_31:190936000 Maroteaux-Lamy syndrome MTHICD9_2006:277.5 arylsulfatase B deficiency CSP2005:1849-6512 deficiency of N-acetylgalactosamine-4-sulfatase (disorder) SNOMEDCT_2005_07_31:52677002 A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain. DOID:14729 DOID:14788 ICD10CM:E76.22 MESH:D009084 NCI:C61262 NCI:C84897 NCI:C84898 OMIM:252900 OMIM:252920 OMIM:252930 OMIM:252940 ORDO:581 SNOMEDCT_US_2016_03_01:190936000 SNOMEDCT_US_2016_03_01:254070003 SNOMEDCT_US_2016_03_01:254071004 SNOMEDCT_US_2016_03_01:41572006 SNOMEDCT_US_2016_03_01:59990008 SNOMEDCT_US_2016_03_01:88393000 UMLS_CUI:C0026706 UMLS_CUI:C0086647 UMLS_CUI:C0086648 Mucopolysaccharidosis, MPS-III N-sulphoglucosamine sulphohydrolase deficiency Sanfilippo's syndrome heparan sulfate sulfatase deficiency MPS IIIA - Sanfilippo syndrome A MPS IIIB - Sanfilippo syndrome B MPS IIIC - Sanfilippo syndrome C MPS IIID - Sanfilippo syndrome D Mucopolysaccharidosis, MPS-III-B N-acetyl-alpha-D-glucosaminidase deficiency Sanfilippo syndrome A Sanfilippo syndrome B mucopolysaccharidosis type IIIA mucopolysaccharidosis type IIIB naglu deficiency disease_ontology DOID:12801 OMIM mapping confirmed by DO. [SN]. mucopolysaccharidosis III A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain. url:http://en.wikipedia.org/wiki/Sanfilippo_syndrome Mucopolysaccharidosis, MPS-III SNOMEDCT_2005_07_31:88393000 N-sulphoglucosamine sulphohydrolase deficiency SNOMEDCT_2005_07_31:41572006 Sanfilippo's syndrome MTHICD9_2006:277.5 Mucopolysaccharidosis, MPS-III-B SNOMEDCT_2005_07_31:59990008 A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase. ICD10CM:E76.0 MESH:D008059 NCI:C85053 OMIM:607014 OMIM:607015 OMIM:607016 SNOMEDCT_US_2016_03_01:190938004 SNOMEDCT_US_2016_03_01:267453008 SNOMEDCT_US_2016_03_01:75610003 UMLS_CUI:C0023786 Hurler syndrome Hurler-Scheie syndrome Lipochondrodystrophy MPS I - Hurler syndrome Mucopolysaccharidosis, MPS-I (disorder) Mucopolysaccharidosis, type 1 iduronidase deficiency disease disease_ontology DOID:12802 mucopolysaccharidosis I A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase. url:http://en.wikipedia.org/wiki/Mucopolysaccharidosis#MPS_I Lipochondrodystrophy MTHICD9_2006:277.5 Mucopolysaccharidosis, MPS-I (disorder) SNOMEDCT_2005_07_31:75610003 Mucopolysaccharidosis, type 1 SNOMEDCT_2005_07_31:190938004 iduronidase deficiency disease CSP2005:1849-6334 A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans. ICD10CM:E76.29 MESH:D016538 NCI:C84903 OMIM:253220 SNOMEDCT_US_2016_03_01:124470009 SNOMEDCT_US_2016_03_01:43916004 UMLS_CUI:C0085132 MPS VII - Sly syndrome beta-glucuronidase deficiency deficiency of beta-glucuronidase mucopolysaccharidosis VII disease_ontology DOID:12803 OMIM mapping confirmed by DO. [SN]. Sly syndrome A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans. url:http://en.wikipedia.org/wiki/Mucopolysaccharidosis_VII url:http://omim.org/entry/253220 deficiency of beta-glucuronidase SNOMEDCT_2005_07_31:124470009 A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain. DOID:14767 ICD10CM:E76.210 ICD10CM:E76.219 MESH:D009085 NCI:C61263 NCI:C84901 OMIM:253000 OMIM:253010 SNOMEDCT_US_2016_03_01:124449003 SNOMEDCT_US_2016_03_01:130197005 SNOMEDCT_US_2016_03_01:190936000 SNOMEDCT_US_2016_03_01:254074007 SNOMEDCT_US_2016_03_01:378007 SNOMEDCT_US_2016_03_01:7259005 SNOMEDCT_US_2016_03_01:78856008 UMLS_CUI:C0026707 UMLS_CUI:C0086651 Mucopolysaccharidosis, MPS-IV deficiency of N-acetylgalactosamine-6-sulphatase deficiency of chondroitinsulphatase galactosamine-6-sulfatase deficiency MPS IV - Morquio syndrome A MPS IV - Morquio syndrome B Morquio A disease Morquio syndrome A Mucopolysaccharidosis type IVB Mucopolysaccharidosis, MPS-IV-A (disorder) Osteochondrodystrophy chondroosteodystrophy mucopolysaccharidosis type IVA disease_ontology DOID:12804 OMIM mapping confirmed by DO. [SN]. mucopolysaccharidosis IV A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain. url:http://en.wikipedia.org/wiki/Morquio_syndrome url:http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002186/ Mucopolysaccharidosis, MPS-IV SNOMEDCT_2005_07_31:378007 deficiency of N-acetylgalactosamine-6-sulphatase SNOMEDCT_2005_07_31:78856008 deficiency of chondroitinsulphatase SNOMEDCT_2005_07_31:124449003 SNOMEDCT_2005_07_31:130197005 Mucopolysaccharidosis, MPS-IV-A (disorder) SNOMEDCT_2005_07_31:7259005 Osteochondrodystrophy SNOMEDCT_2005_07_31:190936000 chondroosteodystrophy CSP2005:1849-6163 ICD10CM:H04.03 ICD9CM:375.03 SNOMEDCT_US_2016_03_01:193972008 SNOMEDCT_US_2016_03_01:393582003 SNOMEDCT_US_2016_03_01:4839005 UMLS_CUI:C1300133 chronic enlargement of lacrimal gland disease_ontology DOID:12809 chronic lacrimal gland enlargement chronic enlargement of lacrimal gland ICD9CM_2006:375.03 A commensal bacterial infectious disease that involves infection of the intestine by the bacterium Clostridium difficile, which causes diarrhea, pseudomembranous colitis, toxic megacolon, intestinal perforation and sepsis. The symptoms include fever, loss of appetite, nausea and abdominal pain. intestinal infectious disease due to clostridium difficile disease_ontology DOID:12819 Clostridium difficile intestinal infectious disease true A commensal bacterial infectious disease that involves infection of the intestine by the bacterium Clostridium difficile, which causes diarrhea, pseudomembranous colitis, toxic megacolon, intestinal perforation and sepsis. The symptoms include fever, loss of appetite, nausea and abdominal pain. url:http://www.cdc.gov/ncidod/dhqp/pdf/infDis/Cdiff_CCJM02_06.pdf ICD10CM:K46 ICD10CM:N81.5 ICD9CM:618.6 MESH:D006547 SNOMEDCT_US_2016_03_01:198272003 SNOMEDCT_US_2016_03_01:198275001 SNOMEDCT_US_2016_03_01:270884000 SNOMEDCT_US_2016_03_01:398061002 SNOMEDCT_US_2016_03_01:47671001 UMLS_CUI:C0205792 vaginal enterocele disease_ontology DOID:1283 enterocele vaginal enterocele SNOMEDCT_2005_07_31:270884000 ICD10CM:G82.5 ICD10CM:G82.50 ICD9CM:344.00 MESH:D011782 NCI:C50721 SNOMEDCT_US_2016_03_01:11538006 SNOMEDCT_US_2016_03_01:155030003 UMLS_CUI:C0034372 tetraplegia disease_ontology DOID:12835 quadriplegia tetraplegia CSP2005:2057-3626 ICD9CM:374.01 SNOMEDCT_US_2016_03_01:55408009 UMLS_CUI:C0155188 Involutional entropion disease_ontology DOID:12836 senile entropion Involutional entropion SNOMEDCT_2005_07_31:55408009 MESH:D013958 NCI:C112836 SNOMEDCT_US_2016_03_01:190262002 SNOMEDCT_US_2016_03_01:29028009 UMLS_CUI:C0040127 Thyroid crisis Thyrotoxic crisis (disorder) disease_ontology DOID:12837 thyroid crisis Thyroid crisis SNOMEDCT_2005_07_31:190262002 Thyrotoxic crisis (disorder) SNOMEDCT_2005_07_31:29028009 disease_ontology DOID:12838 secondary thyroid hyperplasia true DOID:12943 DOID:12944 Thyrotoxicosis from ectopic thyroid nodule NOS (disorder) Thyrotoxicosis from ectopic thyroid nodule with crisis (disorder) Thyrotoxicosis from ectopic thyroid nodule with mention of thyrotoxic crisis or storm Thyrotoxicosis from ectopic thyroid nodule with no crisis (disorder) Thyrotoxicosis from ectopic thyroid nodule without mention of thyrotoxic crisis or storm hyperthyroidism due to ectopic thyroid nodule (disorder) thyrotoxicosis from ectopic thyroid nodule with crisis thyrotoxicosis from ectopic thyroid nodule with no crisis disease_ontology DOID:12839 thyrotoxicosis from ectopic thyroid nodule true Thyrotoxicosis from ectopic thyroid nodule NOS (disorder) SNOMEDCT_2005_07_31:190257003 Thyrotoxicosis from ectopic thyroid nodule with crisis (disorder) SNOMEDCT_2005_07_31:190256007 Thyrotoxicosis from ectopic thyroid nodule with mention of thyrotoxic crisis or storm ICD9CM_2006:242.41 Thyrotoxicosis from ectopic thyroid nodule with no crisis (disorder) SNOMEDCT_2005_07_31:190255006 Thyrotoxicosis from ectopic thyroid nodule without mention of thyrotoxic crisis or storm ICD9CM_2006:242.40 hyperthyroidism due to ectopic thyroid nodule (disorder) SNOMEDCT_2005_07_31:87232008 ICD9CM:618.8 ICD9CM:618.89 UMLS_CUI:C0029801 disease_ontology DOID:1284 prolapse of female genital organ An ancylostomiasis that involves parasitic infection of animals and humans by Ancylostoma ceylanicum larvae, which invade percutaneously and migrate to the intestine. Ancylostomiasis due to Ancylostoma ceylonicum (disorder) Ancylostomiasis due to ancylostoma ceylanicum disease_ontology DOID:12840 Ancylostoma ceylanicum ancylostomiasis true An ancylostomiasis that involves parasitic infection of animals and humans by Ancylostoma ceylanicum larvae, which invade percutaneously and migrate to the intestine. url:http://emedicine.medscape.com/article/996361-overview Ancylostomiasis due to Ancylostoma ceylonicum (disorder) SNOMEDCT_2005_07_31:38725001 Ancylostomiasis due to ancylostoma ceylanicum ICD9CM_2006:126.3 A parasitic helminthiasis infectious disease that involves infection of skin, eyes, and viscera in humans by the parasitic nematodes Ancylostoma braziliense, Ancylostoma ceylanicum, Ancylostoma duodenale or Ancylostoma caninum. The larvae cause lesions on the skin at the site of penetration. The infection has_symptom intestinal bleeding, has_symptom abdominal pain, has_symptom anemia, has_symptom severe diarrhea and has_symptom malnutrition. ICD10CM:B76.0 MESH:D000724 NCI:C35805 SNOMEDCT_US_2016_03_01:63479002 SNOMEDCT_US_2016_03_01:85807000 UMLS_CUI:C0002831 disease_ontology DOID:12841 ancylostomiasis A parasitic helminthiasis infectious disease that involves infection of skin, eyes, and viscera in humans by the parasitic nematodes Ancylostoma braziliense, Ancylostoma ceylanicum, Ancylostoma duodenale or Ancylostoma caninum. The larvae cause lesions on the skin at the site of penetration. The infection has_symptom intestinal bleeding, has_symptom abdominal pain, has_symptom anemia, has_symptom severe diarrhea and has_symptom malnutrition. url:http://en.wikipedia.org/wiki/Ancylostomiasis An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system. ICD10CM:G61.0 MESH:D020275 NCI:C116345 OMIM:139393 SNOMEDCT_US_2016_03_01:155082001 SNOMEDCT_US_2016_03_01:267707000 SNOMEDCT_US_2016_03_01:40956001 UMLS_CUI:C0018378 Infectious neuronitis Post-infectious polyneuritis Postinfectious polyneuritis acute infective polyneuritis acute postinfectious polyneuropathy disease_ontology DOID:12842 OMIM mapping confirmed by DO. [SN]. Guillain-Barre syndrome An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system. url:http://www.ninds.nih.gov/disorders/gbs/gbs.htm Infectious neuronitis SNOMEDCT_2005_07_31:128085000 Post-infectious polyneuritis SNOMEDCT_2005_07_31:193174005 Postinfectious polyneuritis MTHICD9_2006:357.0 acute infective polyneuritis ICD9CM_2006:357.0 acute postinfectious polyneuropathy CSP2005:2042-6653 Polyneuritis (disorder) multiple peripheral neuritis polyneuritis disease_ontology DOID:12843 polyneuritis true Polyneuritis (disorder) SNOMEDCT_2005_07_31:76886005 multiple peripheral neuritis CSP2005:2042-6617 polyneuritis NCI2004_11_17:C26864 An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years. EFO:0003758 ICD10CM:F84.0 ICD9CM:299.0 MESH:D001321 NCI:C97161 OMIM:209850 OMIM:300425 OMIM:300495 OMIM:300496 OMIM:300830 OMIM:300847 OMIM:300872 OMIM:607373 OMIM:608049 OMIM:608636 OMIM:609378 OMIM:610676 OMIM:610836 OMIM:610908 OMIM:611015 OMIM:611016 OMIM:611913 OMIM:612100 OMIM:613410 OMIM:613436 OMIM:615032 OMIM:615091 ORDO:106 SNOMEDCT_US_2016_03_01:154878007 SNOMEDCT_US_2016_03_01:191688000 SNOMEDCT_US_2016_03_01:191691000 SNOMEDCT_US_2016_03_01:192581001 SNOMEDCT_US_2016_03_01:271450003 SNOMEDCT_US_2016_03_01:34883005 SNOMEDCT_US_2016_03_01:38763009 SNOMEDCT_US_2016_03_01:408856003 SNOMEDCT_US_2016_03_01:408857007 SNOMEDCT_US_2016_03_01:43614003 UMLS_CUI:C0004352 Kanner's syndrome autism autistic disorder of childhood onset childhood autism infantile autism disease_ontology DOID:12849 Xref MGI. OMIM mapping confirmed by DO. [SN]. autistic disorder An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years. url:http://en.wikipedia.org/wiki/Autism url:www.neurodevnet.ca Kanner's syndrome MTHICD9_2006:299.0 childhood autism SNOMEDCT_2005_07_31:192581001 MESH:D012002 SNOMEDCT_US_2016_03_01:5964004 UMLS_CUI:C0034882 disease_ontology DOID:1285 rectal disease disease_ontology DOID:12852 adhesions of drum head to incus true disease_ontology DOID:12853 adhesions of drum head to promontorium true disease_ontology DOID:12854 adhesions of drum head to stapes true ICD10CM:M76.6 ICD9CM:726.71 SNOMEDCT_US_2016_03_01:202879008 SNOMEDCT_US_2016_03_01:203394008 SNOMEDCT_US_2016_03_01:221695002 SNOMEDCT_US_2016_03_01:74859007 SNOMEDCT_US_2016_03_01:87494005 UMLS_CUI:C0149846 Achilles bursitis or tendinitis Capped hock Haglund's deformity Haglund's disease disease_ontology DOID:12857 Achilles bursitis Achilles bursitis or tendinitis ICD9CM_2006:726.71 Capped hock SNOMEDCT_2005_07_31:74859007 Haglund's deformity SNOMEDCT_2005_07_31:202879008 Haglund's disease SNOMEDCT_2005_07_31:203394008 A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities. ICD10CM:G10 ICD9CM:333.4 KEGG:05016 MESH:D006816 NCI:C82342 OMIM:143100 SNOMEDCT_US_2016_03_01:155006000 SNOMEDCT_US_2016_03_01:58756001 UMLS_CUI:C0020179 HD Huntington disease Huntington's chorea disease_ontology DOID:12858 Huntington's disease A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities. url:http://en.wikipedia.org/wiki/Huntington_disease url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=118&Disease_Disease_Search_diseaseGroup=huntington&Disease_Disease_Search_diseaseType=Pat&Disease(s)%20concerned=Huntington-disease&title=Huntington-disease&search=Disease_Search_Simple HD CSP2005:2057-3283 Huntington's chorea ICD9CM_2006:333.4 A movement disease characterized by brief, semi-directed, irregular movements that not repetitive or rhythmic, but appear to flow from one muscle to the next. ICD10CM:G25.5 OMIM:118700 OMIM:215450 ORDO:1429 chorea hereditary chorea disease_ontology DOID:12859 Xref MGI. choreatic disease A movement disease characterized by brief, semi-directed, irregular movements that not repetitive or rhythmic, but appear to flow from one muscle to the next. url:http://en.wikipedia.org/wiki/Chorea url:http://www.ncbi.nlm.nih.gov/mesh?term=Choreatic%20Disorders Non-neoplastic nevus Non-neoplastic nevus (disorder) Non-neoplastic nevus NOS (disorder) Non-neoplastic nevus of skin (disorder) Non-neoplastic nevus of skin (disorder) [Ambiguous] nevus, non-neoplastic disease_ontology DOID:12860 non-neoplastic nevus of skin true Non-neoplastic nevus NCI2004_11_17:C3937 Non-neoplastic nevus (disorder) SNOMEDCT_2005_07_31:195381005 Non-neoplastic nevus NOS (disorder) SNOMEDCT_2005_07_31:195384002 Non-neoplastic nevus of skin (disorder) SNOMEDCT_2005_07_31:268462008 Non-neoplastic nevus of skin (disorder) [Ambiguous] SNOMEDCT_2005_07_31:11790000 nevus, non-neoplastic ICD9CM_2006:448.1 Senile naevus Senile nevus Senile nevus (disorder) disease_ontology DOID:12863 senile nevus true Senile naevus SNOMEDCT_2005_07_31:155447005 Senile nevus NCI2004_11_17:C4393 Senile nevus (disorder) SNOMEDCT_2005_07_31:195383008 Acrosyringeal nevus Acrosyringeal nevus (disorder) disease_ontology DOID:12864 acrosyringeal nevus true Acrosyringeal nevus NCI2004_11_17:C4739 Acrosyringeal nevus (disorder) SNOMEDCT_2005_07_31:239117002 A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis. DOID:73 ICD9CM:429.2 MESH:D002318 NCI:C2931 SNOMEDCT_US_2016_03_01:155263000 SNOMEDCT_US_2016_03_01:194707003 SNOMEDCT_US_2016_03_01:195139006 SNOMEDCT_US_2016_03_01:195594006 SNOMEDCT_US_2016_03_01:266275004 SNOMEDCT_US_2016_03_01:266336005 SNOMEDCT_US_2016_03_01:49601007 UMLS_CUI:C0007222 disease of subdivision of hemolymphoid system disease_ontology DOID:1287 cardiovascular system disease A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis. url:http://en.wikipedia.org/wiki/Circulatory_system Exudative cyst of pars plana Exudative cyst of pars plana (disorder) disease_ontology DOID:12879 Pars plana exudative cyst true Exudative cyst of pars plana ICD9CM_2006:364.64 Exudative cyst of pars plana (disorder) SNOMEDCT_2005_07_31:63317005 Idiopathic urticaria (disorder) disease_ontology DOID:12881 idiopathic urticaria true Idiopathic urticaria (disorder) SNOMEDCT_2005_07_31:42265009 A somatoform disorder that involves an excessive preoccupation or worry about having a serious illness. ICD10CM:F45.2 ICD10CM:F45.21 ICD9CM:300.7 MESH:D006998 NCI:C9493 SNOMEDCT_US_2016_03_01:154891008 SNOMEDCT_US_2016_03_01:18193002 SNOMEDCT_US_2016_03_01:192433006 UMLS_CUI:C0020604 Hypochondria Hypochondriacal disorder hypochondriacal neurosis disease_ontology DOID:12883 hypochondriasis A somatoform disorder that involves an excessive preoccupation or worry about having a serious illness. url:http://en.wikipedia.org/wiki/Hypochondriasis Hypochondria NCI2004_11_17:C9493 Hypochondriacal disorder SNOMEDCT_2005_07_31:192433006 hypochondriacal neurosis CSP2005:2483-6952 An ornithosis involving Chlamydophila psittaci infection, contracted by inhaling dust from the feathers or the waste of infected birds. The symptoms include fever, chills, fatigue, and loss of appetite. A cough develops, which is initially dry but later brings up greenish sputum. Ornithosis with pneumonia Ornithosis with pneumonia (disorder) louisiana pneumonia disease_ontology DOID:12888 Chlamydophila psittaci pneumonia true An ornithosis involving Chlamydophila psittaci infection, contracted by inhaling dust from the feathers or the waste of infected birds. The symptoms include fever, chills, fatigue, and loss of appetite. A cough develops, which is initially dry but later brings up greenish sputum. url:http://en.wikipedia.org/wiki/Ornithosis url:http://www.merck.com/mmhe/sec04/ch042/ch042b.html#SB_42_03 Ornithosis with pneumonia ICD9CM_2006:073.0 Ornithosis with pneumonia SNOMEDCT_2005_07_31:186654009 Ornithosis with pneumonia SNOMEDCT_2005_07_31:195901002 Ornithosis with pneumonia (disorder) SNOMEDCT_2005_07_31:81164001 A Guillain-Barre syndrome that manifests as a descending paralysis. It usually affects the eye muscles first and presents with the triad of ophthalmoplegia, ataxia, and areflexia. ICD10CM:G61.0 MESH:D019846 NCI:C116958 SNOMEDCT_US_2016_03_01:1767005 SNOMEDCT_US_2016_03_01:193175006 SNOMEDCT_US_2016_03_01:230548007 UMLS_CUI:C0393799 Fisher's syndrome (disorder) Miller-Fisher variant of Guillain-Barre syndrome disease_ontology DOID:12889 Miller Fisher syndrome A Guillain-Barre syndrome that manifests as a descending paralysis. It usually affects the eye muscles first and presents with the triad of ophthalmoplegia, ataxia, and areflexia. url:http://en.wikipedia.org/wiki/Miller_Fisher_syndrome#Classification Fisher's syndrome (disorder) SNOMEDCT_2005_07_31:1767005 Miller-Fisher variant of Guillain-Barre syndrome SNOMEDCT_2005_07_31:193175006 Miller-Fisher variant of Guillain-Barre syndrome SNOMEDCT_2005_07_31:230548007 A central nervous system disease that results_in the progressive deterioration of function or structure of neurons. DOID:4874 ICD10CM:G31.9 MESH:D019636 NCI:C27090 SNOMEDCT_US_2016_03_01:362975008 UMLS_CUI:C0524851 UMLS_CUI:C1285162 Neurodegenerative disease degenerative disease disease_ontology DOID:1289 neurodegenerative disease A central nervous system disease that results_in the progressive deterioration of function or structure of neurons. url:http://en.wikipedia.org/wiki/Degenerative_disease url:http://en.wikipedia.org/wiki/Neurodegeneration Neurodegenerative disease NCI2004_11_17:C4802 A hypersensitivity reaction type II disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva. DOID:416 ICD10CM:M35.0 ICD10CM:M35.00 ICD9CM:710.2 MESH:D012859 NCI:C26883 NCI:C70647 OMIM:270150 SNOMEDCT_US_2016_03_01:156455009 SNOMEDCT_US_2016_03_01:201444003 SNOMEDCT_US_2016_03_01:267875002 SNOMEDCT_US_2016_03_01:268050000 SNOMEDCT_US_2016_03_01:83901003 UMLS_CUI:C0086981 UMLS_CUI:C1527336 Sicca syndrome Sjogren syndrome xerodermosteosis disease_ontology DOID:12894 OMIM mapping confirmed by DO. [LS]. Sjogren's syndrome A hypersensitivity reaction type II disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva. ls:IEDB url:http://en.wikipedia.org/wiki/Sj%C3%B6gren%27s_syndrome Sicca syndrome ICD9CM_2006:710.2 SNOMEDCT_2005_07_31:156455009 SNOMEDCT_2005_07_31:268050000 SNOMEDCT_2005_07_31:83901003 xerodermosteosis CSP2005:0729-8405 MESH:D007638 SNOMEDCT_US_2016_03_01:156455009 SNOMEDCT_US_2016_03_01:201444003 SNOMEDCT_US_2016_03_01:268050000 SNOMEDCT_US_2016_03_01:302896008 SNOMEDCT_US_2016_03_01:78946008 UMLS_CUI:C0022575 KCS disease_ontology DOID:12895 keratoconjunctivitis sicca KCS CSP2005:1114-9026 MESH:D013364 UMLS_CUI:C0038557 disease_ontology DOID:12897 submandibular gland disease ICD10CM:K11.8 NCI:C3949 SNOMEDCT_US_2016_03_01:45517002 UMLS_CUI:C0266995 Godwin tumor benign lymphoepithelial lesion of salivary gland (disorder) disease_ontology DOID:12899 benign lymphoepithelial lesion of salivary gland Godwin tumor NCI2004_11_17:C3949 benign lymphoepithelial lesion of salivary gland (disorder) SNOMEDCT_2005_07_31:45517002 ICD10CM:K11.8 MESH:D008882 NCI:C34819 SNOMEDCT_US_2016_03_01:196478007 SNOMEDCT_US_2016_03_01:7826003 UMLS_CUI:C0026103 Mikulicz's disease disease_ontology DOID:12900 Mikulicz disease Mikulicz's disease SNOMEDCT_2005_07_31:196478007 ICD10CM:K11.8 MESH:D012797 SNOMEDCT_US_2016_03_01:109769000 UMLS_CUI:C0037033 Necrotizing sialometaplasia (disorder) disease_ontology DOID:12901 necrotizing sialometaplasia Necrotizing sialometaplasia (disorder) SNOMEDCT_2005_07_31:109769000 ICD10CM:K11.6 ICD9CM:527.6 NCI:C27649 SNOMEDCT_US_2016_03_01:196508008 SNOMEDCT_US_2016_03_01:196509000 SNOMEDCT_US_2016_03_01:196512002 SNOMEDCT_US_2016_03_01:69825009 UMLS_CUI:C0026686 Mucous retention cyst of salivary gland Ranula Salivary Cyst Salivary gland mucocele disease_ontology DOID:12904 mucocele of salivary gland Mucous retention cyst of salivary gland MTHICD9_2006:527.6 Ranula SNOMEDCT_2005_07_31:155657002 Salivary Cyst NCI2004_11_17:C27649 Salivary gland mucocele SNOMEDCT_2005_07_31:196512002 ICD10CM:K11.5 ICD9CM:527.5 MESH:D015494 NCI:C34994 SNOMEDCT_US_2016_03_01:109767003 SNOMEDCT_US_2016_03_01:155656006 SNOMEDCT_US_2016_03_01:196507003 SNOMEDCT_US_2016_03_01:28826002 UMLS_CUI:C0036091 Salivary gland Stone Sialolith Stone of salivary gland or duct disease_ontology DOID:12905 sialolithiasis Salivary gland Stone NCI2004_11_17:C34994 Sialolith SNOMEDCT_2005_07_31:109767003 Stone of salivary gland or duct MTHICD9_2006:527.5 Sickle cell-hemoglobin C disease with crisis (disorder) disease_ontology DOID:12910 sickle-cell/Hb-C disease with crisis true Sickle cell-hemoglobin C disease with crisis (disorder) SNOMEDCT_2005_07_31:417517009 ICD10CM:I73.1 ICD9CM:443.1 MESH:D013919 NCI:C35070 OMIM:211480 SNOMEDCT_US_2016_03_01:155432001 SNOMEDCT_US_2016_03_01:195298008 SNOMEDCT_US_2016_03_01:195299000 SNOMEDCT_US_2016_03_01:195300008 SNOMEDCT_US_2016_03_01:52403007 UMLS_CUI:C0040021 Buerger's disease Presenile gangrene Presenile gangrene (disorder) Thromboangiitis obliterans Thromboangiitis obliterans (disorder) Thromboangiitis obliterans NOS (disorder) Thromboangiitis obliterans [Buerger's disease] disease_ontology DOID:12918 OMIM mapping confirmed by DO. [LS]. thromboangiitis obliterans Buerger's disease CSP2005:0571-6915 Buerger's disease NCI2004_11_17:C35070 Presenile gangrene MTHICD9_2006:443.1 Presenile gangrene (disorder) SNOMEDCT_2005_07_31:195299000 Thromboangiitis obliterans SNOMEDCT_2005_07_31:155432001 Thromboangiitis obliterans SNOMEDCT_2005_07_31:195298008 Thromboangiitis obliterans (disorder) SNOMEDCT_2005_07_31:52403007 Thromboangiitis obliterans NOS (disorder) SNOMEDCT_2005_07_31:195300008 Thromboangiitis obliterans [Buerger's disease] ICD9CM_2006:443.1 A malaria characaterized as a relatively mild form caused by a parasite Plasmodium ovale, which is characterized by tertian chills and febrile paroxysms, and that ends spontaneously. ICD10CM:B53.0 ICD9CM:084.3 SNOMEDCT_US_2016_03_01:19341001 UMLS_CUI:C0152072 Malariaby Plasmodium ovale Ovale malaria disease_ontology DOID:12919 Plasmodium ovale malaria A malaria characaterized as a relatively mild form caused by a parasite Plasmodium ovale, which is characterized by tertian chills and febrile paroxysms, and that ends spontaneously. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=ovale%20malaria Malariaby Plasmodium ovale MTHICD9_2006:084.3 Ovale malaria SNOMEDCT_2005_07_31:19341001 Schizophrenic syndrome of childhood NOS childhood Schizophrenia childhood schizophrenia childhood schizophrenia NOS childhood schizophrenia NOS (disorder) disease_ontology DOID:12921 childhood schizophrenia true Schizophrenic syndrome of childhood NOS MTHICD9_2006:299.9 childhood Schizophrenia NCI2004_11_17:C35004 childhood schizophrenia CSP2005:0634-6827 childhood schizophrenia CSP2005:2485-0932 childhood schizophrenia NOS SNOMEDCT_2005_07_31:191699003 childhood schizophrenia NOS (disorder) SNOMEDCT_2005_07_31:231484006 acute schizophrenic episode acute schizophrenic episode (disorder) acute schizophrenic episode, unspecified state disease_ontology DOID:12922 acute undifferentiated schizophrenia true acute schizophrenic episode SNOMEDCT_2005_07_31:191558000 acute schizophrenic episode (disorder) SNOMEDCT_2005_07_31:268617001 acute schizophrenic episode, unspecified state ICD9CM_2006:295.40 Unspecified schizophrenia, chronic state chronic undifferentiated schizophrenia (disorder) disease_ontology DOID:12923 chronic undifferentiated schizophrenia true Unspecified schizophrenia, chronic state ICD9CM_2006:295.92 chronic undifferentiated schizophrenia (disorder) SNOMEDCT_2005_07_31:29599000 A myiasis that involves parasitic infestation of warble flies of the genus Hypoderma, on cattle and deer and Dermatobia hominis on humans. The larvae of human botfly, Dermatobia hominis, feed in a subdermal cavity causing cutaneous swellings on the body or scalp that may produce discharges and be painful. MESH:D007000 UMLS_CUI:C0020607 disease_ontology DOID:12926 hypodermyiasis A myiasis that involves parasitic infestation of warble flies of the genus Hypoderma, on cattle and deer and Dermatobia hominis on humans. The larvae of human botfly, Dermatobia hominis, feed in a subdermal cavity causing cutaneous swellings on the body or scalp that may produce discharges and be painful. url:http://en.wikipedia.org/wiki/Dermatobia_hominis url:http://en.wikipedia.org/wiki/Hypodermyiasis url:http://www.dpd.cdc.gov/dpdx/HTML/Myiasis.htm A myiasis that involves parasitic infestation of Cochliomyia hominivorax or Chrysomya bezziana larvae, which feed on the living tissues of warm-blooded animals. In Cochliomyia infestation, larvae migrate from the subdermis to other tissues in the body, causing extreme damage in the process. Chrysomya bezziana larvae feed and can cause permanent tissue damage. MESH:D012610 UMLS_CUI:C0036465 disease_ontology DOID:12927 screw worm infectious disease A myiasis that involves parasitic infestation of Cochliomyia hominivorax or Chrysomya bezziana larvae, which feed on the living tissues of warm-blooded animals. In Cochliomyia infestation, larvae migrate from the subdermis to other tissues in the body, causing extreme damage in the process. Chrysomya bezziana larvae feed and can cause permanent tissue damage. url:http://en.wikipedia.org/wiki/Chrysomya_bezziana url:http://www.dpd.cdc.gov/dpdx/HTML/Myiasis.htm Nutritional and metabolic cardiomyopathies (disorder) Nutritional and metabolic cardiomyopathy NOS Nutritional and metabolic cardiomyopathy NOS (disorder) disease_ontology DOID:12928 nutritional cardiomyopathy true Nutritional and metabolic cardiomyopathies (disorder) SNOMEDCT_2005_07_31:195023001 Nutritional and metabolic cardiomyopathy NOS SNOMEDCT_2005_07_31:195028005 Nutritional and metabolic cardiomyopathy NOS (disorder) SNOMEDCT_2005_07_31:266243002 An endocardium disease that is characterized by a thickening of the inmost lining of the heart chambers due to an increase in the amount of supporting connective tissue and elastic fibers. ICD10CM:I42.4 ICD9CM:425.3 MESH:D004695 NCI:C98922 OMIM:226000 SNOMEDCT_US_2016_03_01:65457005 UMLS_CUI:C0014117 Elastomyofibrosis disease_ontology DOID:12929 OMIM mapping confirmed by DO. [SN]. endocardial fibroelastosis An endocardium disease that is characterized by a thickening of the inmost lining of the heart chambers due to an increase in the amount of supporting connective tissue and elastic fibers. url:http://en.wikipedia.org/wiki/Endocardial_fibroelastosis url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/219/viewAbstract Elastomyofibrosis MTHICD9_2006:425.3 NCI:C9364 UMLS_CUI:C1334357 Labia Minora cancer disease_ontology carcinoma of labia minora DOID:1293 labia minora carcinoma Labia Minora cancer NCI2004_11_17:C9364 An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently. EFO:0000407 ICD10CM:I42.0 KEGG:05414 MESH:D002311 NCI:C84673 OMIM:PS115200 ORDO:217604 SNOMEDCT_US_2016_03_01:195018001 SNOMEDCT_US_2016_03_01:195021004 SNOMEDCT_US_2016_03_01:389995008 SNOMEDCT_US_2016_03_01:399020009 SNOMEDCT_US_2016_03_01:74368002 UMLS_CUI:C0007193 primary dilated cardiomyopathy disease_ontology Congestive cardiomyopathy Familial dilated cardiomyopathy Idiopathic dilation cardiomyopathy DOID:12930 Xref MGI. OMIM mapping confirmed by DO. [LS]. dilated cardiomyopathy An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently. url:http://en.wikipedia.org/wiki/Dilated_cardiomyopathy Congestive cardiomyopathy SNOMEDCT_2005_07_31:195018001 Familial dilated cardiomyopathy MESH:C536231 Idiopathic dilation cardiomyopathy MESH:C536277 ICD9CM:425.0 MESH:D004719 NCI:C34585 SNOMEDCT_US_2016_03_01:111507009 SNOMEDCT_US_2016_03_01:123264005 SNOMEDCT_US_2016_03_01:155351008 SNOMEDCT_US_2016_03_01:266301006 SNOMEDCT_US_2016_03_01:30293000 SNOMEDCT_US_2016_03_01:398716006 UMLS_CUI:C0553980 (Becker's disease) or (obscure African cardiomyopathy) African endomyocardial fibrosis Becker's disease Endomyocardial sclerosis Obscure African cardiomyopathy (disorder) disease_ontology DOID:12932 endomyocardial fibrosis (Becker's disease) or (obscure African cardiomyopathy) SNOMEDCT_2005_07_31:195016002 African endomyocardial fibrosis SNOMEDCT_2005_07_31:398754006 Becker's disease SNOMEDCT_2005_07_31:387732009 Endomyocardial sclerosis SNOMEDCT_2005_07_31:111507009 Obscure African cardiomyopathy (disorder) SNOMEDCT_2005_07_31:266242007 ICD10CM:H49.81 MESH:D007625 NCI:C84798 OMIM:530000 SNOMEDCT_US_2016_03_01:25792000 SNOMEDCT_US_2016_03_01:51464001 SNOMEDCT_US_2016_03_01:77835008 UMLS_CUI:C0022541 Kearns-Sayre syndrome (disorder) disease_ontology DOID:12934 OMIM mapping confirmed by DO. [SN]. Kearns-Sayre syndrome Kearns-Sayre syndrome (disorder) SNOMEDCT_2005_07_31:25792000 ICD10CM:I42.6 ICD9CM:425.5 MESH:D002310 NCI:C53653 SNOMEDCT_US_2016_03_01:155352001 SNOMEDCT_US_2016_03_01:83521008 UMLS_CUI:C0007192 Alcohol-induced heart muscle disease Alcoholic cardiomyopathy Dilated cardiomyopathy secondary to alcohol (disorder) disease_ontology DOID:12935 alcoholic cardiomyopathy Alcohol-induced heart muscle disease SNOMEDCT_2005_07_31:155352001 Alcoholic cardiomyopathy ICD9CM_2006:425.5 Dilated cardiomyopathy secondary to alcohol (disorder) SNOMEDCT_2005_07_31:83521008 secondary cardiomyopathy (disorder) secondary cardiomyopathy NOS secondary cardiomyopathy NOS (disorder) secondary cardiomyopathy, unspecified disease_ontology DOID:12936 secondary cardiomyopathy true secondary cardiomyopathy (disorder) SNOMEDCT_2005_07_31:89600009 secondary cardiomyopathy NOS SNOMEDCT_2005_07_31:195035002 secondary cardiomyopathy NOS (disorder) SNOMEDCT_2005_07_31:266244008 secondary cardiomyopathy, unspecified ICD9CM_2006:425.9 A vulva cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. NCI:C4866 UMLS_CUI:C0677055 Vulvar carcinoma disease_ontology carcinoma of vulva DOID:1294 vulva carcinoma A vulva cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://www.cancer.gov/cancertopics/types/vulvar Vulvar carcinoma NCI2004_11_17:C4866 ICD10CM:H02.23 ICD9CM:374.21 SNOMEDCT_US_2016_03_01:193938000 SNOMEDCT_US_2016_03_01:59890007 UMLS_CUI:C0155197 disease_ontology DOID:12958 paralytic lagophthalmos ICD10CM:H02.2 ICD10CM:H02.20 ICD9CM:374.2 ICD9CM:374.20 SNOMEDCT_US_2016_03_01:193936001 SNOMEDCT_US_2016_03_01:193937005 SNOMEDCT_US_2016_03_01:193941009 SNOMEDCT_US_2016_03_01:60735000 UMLS_CUI:C0152226 disease_ontology DOID:12959 lagophthalmos A synostosis that results_in craniosynostosis and syndactyly. DOID:0080004 ICD9CM:755.55 MESH:D000168 NCI:C34348 OMIM:101200 SNOMEDCT_US_2016_03_01:205257004 SNOMEDCT_US_2016_03_01:268262006 SNOMEDCT_US_2016_03_01:63661009 UMLS_CUI:C1510455 Apert syndrome disease_ontology DOID:12960 OMIM mapping confirmed by DO. [SN]. acrocephalosyndactylia A synostosis that results_in craniosynostosis and syndactyly. url:http://en.wikipedia.org/wiki/Acrocephalosyndactylia url:http://www.netterimages.com/image/acrocephalosyndactylia.htm Apert syndrome SNOMEDCT_2005_07_31:205257004 ICD10CM:Q79.8 MESH:D011045 NCI:C85017 OMIM:173800 SNOMEDCT_US_2016_03_01:205524002 SNOMEDCT_US_2016_03_01:38371006 UMLS_CUI:C0032357 Poland anomaly Poland's syndactyly disease_ontology Poland sequence DOID:12961 OMIM mapping confirmed by DO. [SN]. Poland syndrome Poland anomaly SNOMEDCT_2005_07_31:38371006 A leukemia that is characterized by the presence of abnormal white blood cells located_in peripheral blood, but in which the total number of white blood cells is normal. disease_ontology DOID:12965 subleukemic leukemia A leukemia that is characterized by the presence of abnormal white blood cells located_in peripheral blood, but in which the total number of white blood cells is normal. url:http://medical-dictionary.thefreedictionary.com/subleukemic+leukemia A hematologic cancer located_in the central nervous system. NCI:C5440 UMLS_CUI:C1332884 Leukemia of the CNS disease_ontology DOID:12969 central nervous system leukemia A hematologic cancer located_in the central nervous system. url:http://www.springerlink.com/content/gl61tx644217n938/ Leukemia of the CNS NCI2004_11_17:C5440 A congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape. ICD10CM:D58.0 ICD9CM:282.0 MESH:D013103 NCI:C97074 ORDO:822 SNOMEDCT_US_2016_03_01:154795009 SNOMEDCT_US_2016_03_01:55995005 UMLS_CUI:C0037889 Congenital spherocytic hemolytic anemia Minkowski Chauffard syndrome spherocytic anemia disease_ontology DOID:12971 Xref MGI. hereditary spherocytosis A congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape. url:http://en.wikipedia.org/wiki/Hereditary_spherocytosis Congenital spherocytic hemolytic anemia MTHICD9_2006:282.0 Minkowski Chauffard syndrome CSP2005:0427-1870 ICD9CM:202.46 SNOMEDCT_US_2016_03_01:188650008 SNOMEDCT_US_2016_03_01:93145002 UMLS_CUI:C0153831 Leukemic reticuloendotheliosis involving intrapelvic lymph nodes Leukemic reticuloendotheliosis of intrapelvic lymph nodes (disorder) Leukemic reticuloendotheliosis of intrapelvic lymph nodes [dup] (disorder) disease_ontology DOID:12972 intrapelvic lymph node leukemic reticuloendotheliosis Leukemic reticuloendotheliosis involving intrapelvic lymph nodes ICD9CM_2006:202.46 Leukemic reticuloendotheliosis of intrapelvic lymph nodes (disorder) SNOMEDCT_2005_07_31:93145002 Leukemic reticuloendotheliosis of intrapelvic lymph nodes [dup] (disorder) SNOMEDCT_2005_07_31:188650008 metastasis to intrapelvic lymph node secondary and unspecified malignant neoplasm of intrapelvic lymph nodes secondary and unspecified malignant neoplasm of intrapelvic lymph nodes (disorder) secondary and unspecified malignant neoplasm of intrapelvic lymph nodes NOS (disorder) secondary malignant neoplasm of intrapelvic lymph nodes (disorder) disease_ontology DOID:12973 secondary malignant neoplasm of intrapelvic lymph node true metastasis to intrapelvic lymph node SNOMEDCT_2005_07_31:154562000 secondary and unspecified malignant neoplasm of intrapelvic lymph nodes ICD9CM_2006:196.6 secondary and unspecified malignant neoplasm of intrapelvic lymph nodes (disorder) SNOMEDCT_2005_07_31:188423005 secondary and unspecified malignant neoplasm of intrapelvic lymph nodes NOS (disorder) SNOMEDCT_2005_07_31:188429009 secondary malignant neoplasm of intrapelvic lymph nodes (disorder) SNOMEDCT_2005_07_31:94350006 A malaria that is caused by the protozoan parasite Plasmodium vivax, which induces paroxysms at 48-hour intervals. ICD10CM:B51 ICD10CM:B51.9 ICD9CM:084.1 MESH:D016780 NCI:C34800 SNOMEDCT_US_2016_03_01:27052006 UMLS_CUI:C0024537 Malaria by Plasmodium vivax Vivax Malaria disease_ontology DOID:12978 Plasmodium vivax malaria A malaria that is caused by the protozoan parasite Plasmodium vivax, which induces paroxysms at 48-hour intervals. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=vivax+malaria Malaria by Plasmodium vivax MTHICD9_2006:084.1 Vivax Malaria NCI2004_11_17:C34800 disease_ontology DOID:12983 transient disorder of initiating or maintaining sleep true NCI:C5831 SNOMEDCT_US_2016_03_01:126976007 UMLS_CUI:C1263901 Vagus nerve tumors neoplasm of vagus nerve (disorder) disease_ontology DOID:12984 vagus nerve neoplasm Vagus nerve tumors NCI2004_11_17:C5831 neoplasm of vagus nerve (disorder) SNOMEDCT_2005_07_31:126976007 Functional disorder of polymorphonuclear neutrophils (disorder) disease_ontology DOID:12985 functional disorder of polymorphonuclear neutrophils true Functional disorder of polymorphonuclear neutrophils (disorder) SNOMEDCT_2005_07_31:267543009 MESH:D018921 NCI:C4062 SNOMEDCT_US_2016_03_01:30419000 UMLS_CUI:C0282548 Leukostasis (morphologic abnormality) disease_ontology DOID:12986 leukostasis Leukostasis (morphologic abnormality) SNOMEDCT_2005_07_31:30419000 ICD10CM:D70 MESH:D000380 NCI:C2863 SNOMEDCT_US_2016_03_01:142919000 SNOMEDCT_US_2016_03_01:154830007 SNOMEDCT_US_2016_03_01:165508008 SNOMEDCT_US_2016_03_01:17182001 SNOMEDCT_US_2016_03_01:191336001 SNOMEDCT_US_2016_03_01:191350006 SNOMEDCT_US_2016_03_01:310589001 SNOMEDCT_US_2016_03_01:417672002 SNOMEDCT_US_2016_03_01:72885007 UMLS_CUI:C0001824 Granulocytopenic disorder Granulopenia granulocytopenia disease_ontology DOID:12987 agranulocytosis Granulocytopenic disorder SNOMEDCT_2005_07_31:417672002 Granulopenia SNOMEDCT_2005_07_31:72885007 granulocytopenia NCI2004_11_17:C2863 A specific developmental disorder marked by a pattern of repetitive behavior wherein the rights of others or social norms are violated. EFO:0004216 ICD10CM:F91 ICD10CM:F91.9 ICD9CM:312.9 MESH:D019955 NCI:C89329 SNOMEDCT_US_2016_03_01:154945001 SNOMEDCT_US_2016_03_01:192104004 SNOMEDCT_US_2016_03_01:192106002 SNOMEDCT_US_2016_03_01:192597006 SNOMEDCT_US_2016_03_01:192603009 SNOMEDCT_US_2016_03_01:268782006 SNOMEDCT_US_2016_03_01:268785008 SNOMEDCT_US_2016_03_01:430909002 UMLS_CUI:C0149654 disease_ontology DOID:12995 conduct disorder A specific developmental disorder marked by a pattern of repetitive behavior wherein the rights of others or social norms are violated. url:http://en.wikipedia.org/wiki/Conduct_disorder url:http://www.nmha.org/go/conduct-disorder ICD10CM:H04.32 ICD9CM:375.32 SNOMEDCT_US_2016_03_01:193986007 SNOMEDCT_US_2016_03_01:25470000 UMLS_CUI:C0155237 Dacryocystitis - acute disease_ontology DOID:12996 acute dacryocystitis Dacryocystitis - acute SNOMEDCT_2005_07_31:193986007 ICD10CM:H04.31 ICD9CM:375.33 SNOMEDCT_US_2016_03_01:193988008 SNOMEDCT_US_2016_03_01:64324003 UMLS_CUI:C0155238 disease_ontology DOID:12997 Phlegmonous dacryocystitis disease_ontology DOID:130 female genitalia nevus true MESH:D016893 NCI:C95804 SNOMEDCT_US_2016_03_01:195181000 SNOMEDCT_US_2016_03_01:64586002 UMLS_CUI:C0007282 Carotid artery stenosis (disorder) Stenosis, carotid artery disease_ontology DOID:13001 carotid stenosis Carotid artery stenosis (disorder) SNOMEDCT_2005_07_31:64586002 Stenosis, carotid artery SNOMEDCT_2005_07_31:195181000 ICD9CM:435.2 MESH:D013349 NCI:C35044 SNOMEDCT_US_2016_03_01:15258001 SNOMEDCT_US_2016_03_01:300921000 UMLS_CUI:C0038531 Subclavian artery stenosis (disorder) subclavian steal phenomenon subclavian steal steno-occlusive disease disease_ontology DOID:13002 subclavian steal syndrome Subclavian artery stenosis (disorder) SNOMEDCT_2005_07_31:300921000 ICD10CM:G45.0 ICD9CM:435.3 MESH:D014715 SNOMEDCT_US_2016_03_01:155404005 SNOMEDCT_US_2016_03_01:195196001 SNOMEDCT_US_2016_03_01:195199008 SNOMEDCT_US_2016_03_01:266314007 SNOMEDCT_US_2016_03_01:394517009 SNOMEDCT_US_2016_03_01:64009001 UMLS_CUI:C0042568 Vertebro-basilar insufficiency Vertebrobasilar arterial insufficiency Vertebrobasilar artery syndrome Vertebrobasilar artery syndrome (disorder) Vertebrobasilar insufficiency disease_ontology DOID:13003 vertebrobasilar insufficiency Vertebro-basilar insufficiency SNOMEDCT_2005_07_31:155404005 Vertebro-basilar insufficiency SNOMEDCT_2005_07_31:195196001 Vertebro-basilar insufficiency SNOMEDCT_2005_07_31:266314007 Vertebrobasilar arterial insufficiency SNOMEDCT_2005_07_31:64009001 Vertebrobasilar artery syndrome ICD9CM_2006:435.3 Vertebrobasilar artery syndrome (disorder) SNOMEDCT_2005_07_31:195199008 Vertebrobasilar insufficiency SNOMEDCT_2005_07_31:394517009 ICD9CM:202.63 SNOMEDCT_US_2016_03_01:188664008 UMLS_CUI:C0153844 Mast cell malignancy of intra-abdominal lymph nodes (disorder) malignant mast cell tumors involving intra-abdominal lymph nodes disease_ontology DOID:13005 intra-abdominal lymph node mast cell malignancy Mast cell malignancy of intra-abdominal lymph nodes (disorder) SNOMEDCT_2005_07_31:188664008 malignant mast cell tumors involving intra-abdominal lymph nodes ICD9CM_2006:202.63 A viral infectious disease that results_in infection, has_material_basis_in RNA viruses, which have RNA as their genetic material. DOID:1330 DOID:1337 DOID:14084 DOID:1892 DOID:2872 DOID:995 Hemorrhagic Fever Mite-Born Hemorrhagic Fever Mite-borne hemorrhagic fever (disorder) Mosquito-borne haemorrhagic fever Mosquito-borne hemorrhagic fever Mosquito-borne hemorrhagic fever (disorder) Rodent-borne hemorrhagic fever (disorder) Unspecified viral haemorrhagic fever Unspecified viral hemorrhagic fever (disorder) Viral Hemorrhagic Fever Viral hemorrhagic fever (disorder) arbovirus hemorrhagic fever hemorrhagic fever mite-borne hemorrhagic fever mosquito-borne hemorrhagic fever rodent-borne hemorrhagic fever tick-borne hemorrhagic fever viral hemorrhagic fever disease_ontology DOID:1301 RNA virus infectious disease true A viral infectious disease that results_in infection, has_material_basis_in RNA viruses, which have RNA as their genetic material. url:http://en.wikipedia.org/wiki/RNA_viruses Hemorrhagic Fever NCI2004_11_17:C36169 Mite-Born Hemorrhagic Fever NCI2004_11_17:C35410 Mite-borne hemorrhagic fever (disorder) SNOMEDCT_2005_07_31:186601006 Mosquito-borne haemorrhagic fever SNOMEDCT_2005_07_31:186598001 Mosquito-borne hemorrhagic fever ICD9CM_2006:065.4 Mosquito-borne hemorrhagic fever (disorder) SNOMEDCT_2005_07_31:111847008 Rodent-borne hemorrhagic fever (disorder) SNOMEDCT_2005_07_31:240494005 Unspecified viral haemorrhagic fever SNOMEDCT_2005_07_31:186736002 Unspecified viral hemorrhagic fever (disorder) SNOMEDCT_2005_07_31:187415006 Viral Hemorrhagic Fever NCI2004_11_17:C36170 Viral hemorrhagic fever (disorder) SNOMEDCT_2005_07_31:240523007 hemorrhagic fever CSP2005:3100-2478 ICD10CM:B30.0 ICD9CM:077.1 NCI:C34590 SNOMEDCT_US_2016_03_01:60548004 UMLS_CUI:C0014493 EKC Epidemic keratoconjunctivitis disease_ontology DOID:13014 shipyard eye EKC SNOMEDCT_2005_07_31:60548004 Epidemic keratoconjunctivitis ICD9CM_2006:077.1 A cryptococcosis that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Filobasidiella neoformans and has_symptom gastointestinal bleeding, has_symptom diarrhea and has_symptom abdominal pain. Cryptococcal Gastroenteritis Cryptococcal gastroenteritis (disorder) disease_ontology DOID:13019 cryptococcal gastroenteritis true A cryptococcosis that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Filobasidiella neoformans and has_symptom gastointestinal bleeding, has_symptom diarrhea and has_symptom abdominal pain. url:http://smj.sma.org.sg/4911/4911cr4.pdf url:http://www.cfsph.iastate.edu/Factsheets/pdfs/cryptococcosis.pdf Cryptococcal Gastroenteritis NCI2004_11_17:C35590 Cryptococcal gastroenteritis (disorder) SNOMEDCT_2005_07_31:35974005 A cryptococcosis that results_in inflammation located_in lungs, has_material_basis_in Cryptococcus neoformans which results_in_formation_of nodular lesions and results_in_formation_of lobar consolidation in the lungs of the immunocompetent patient and has_symptom cough, has_symptom chest pain and has_symptom difficulty breathing. Cryptococcal Pneumonia disease_ontology DOID:13020 pulmonary cryptococcosis true A cryptococcosis that results_in inflammation located_in lungs, has_material_basis_in Cryptococcus neoformans which results_in_formation_of nodular lesions and results_in_formation_of lobar consolidation in the lungs of the immunocompetent patient and has_symptom cough, has_symptom chest pain and has_symptom difficulty breathing. url:http://en.wikipedia.org/wiki/Cryptococcosis url:http://www.merck.com/mmhe/sec17/ch197/ch197f.html?qt=pulmonary%20cryptococcosis&alt=sh url:http://www.ncbi.nlm.nih.gov/pubmed/17312037 url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=cryptococcosis Cryptococcal Pneumonia NCI2004_11_17:C35361 A cryptococcosis that is_a disease associated with AIDS has_material_basis_in Cryptococcus neoformans which results_in a systemic infection in individuals with HIV. disease_ontology DOID:13021 AIDS-related cryptococcosis true A cryptococcosis that is_a disease associated with AIDS has_material_basis_in Cryptococcus neoformans which results_in a systemic infection in individuals with HIV. url:http://www.accessmedicine.com/resourceTOC.aspx?resourceID=4 Haemoglobin S trait Hb-S trait Sickle cell trait (disorder) Sickle-cell trait disease_ontology DOID:13023 sickle cell trait true Haemoglobin S trait SNOMEDCT_2005_07_31:154797001 Hb-S trait MTHICD9_2006:282.5 Sickle cell trait (disorder) SNOMEDCT_2005_07_31:16402000 Sickle-cell trait ICD9CM_2006:282.5 ICD10CM:H35.1 ICD10CM:H35.10 ICD10CM:H35.17 ICD9CM:362.20 ICD9CM:362.21 MESH:D012178 NCI:C34982 SNOMEDCT_US_2016_03_01:155110004 SNOMEDCT_US_2016_03_01:415297005 SNOMEDCT_US_2016_03_01:74277007 UMLS_CUI:C0035344 Retrolental fibroplasia premature retinopathy disease_ontology DOID:13025 retinopathy of prematurity Retrolental fibroplasia ICD9CM_2006:362.21 premature retinopathy CSP2005:1114-9578 A dermatomycosis that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Lacazia loboi and has_symptom crusty plaques, has_symptom tumors and results_in_formation_of nodular lesions. ICD10CM:B48.0 ICD9CM:116.2 MESH:D060368 SNOMEDCT_US_2016_03_01:240749000 SNOMEDCT_US_2016_03_01:47306003 UMLS_CUI:C0152066 Cutaneous lobomycosis (disorder) infection by Loboa loboi disease_ontology Cutaneous blastomycosis DOID:13026 lobomycosis A dermatomycosis that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Lacazia loboi and has_symptom crusty plaques, has_symptom tumors and results_in_formation_of nodular lesions. url:http://www.cdc.gov/EID/content/15/8/1301.htm url:http://www.mycology.adelaide.edu.au/Mycoses/Subcutaneous/Lobomycosis/index.html Cutaneous lobomycosis (disorder) SNOMEDCT_2005_07_31:240749000 infection by Loboa loboi MTHICD9_2006:116.2 An amnestic disorder that is characterized by temporary but almost total disruption of short-term memory with a range of problems accessing older memories. ICD10CM:G45.4 ICD9CM:437.7 MESH:D020236 NCI:C85198 SNOMEDCT_US_2016_03_01:195202003 SNOMEDCT_US_2016_03_01:230736007 SNOMEDCT_US_2016_03_01:366963000 SNOMEDCT_US_2016_03_01:367187006 UMLS_CUI:C0338591 disease_ontology DOID:13027 transient global amnesia An amnestic disorder that is characterized by temporary but almost total disruption of short-term memory with a range of problems accessing older memories. url:http://emedicine.medscape.com/article/1160964-overview url:http://en.wikipedia.org/wiki/Transient_global_amnesia ICD10CM:N47.6 ICD9CM:607.1 SNOMEDCT_US_2016_03_01:198020004 SNOMEDCT_US_2016_03_01:198024008 SNOMEDCT_US_2016_03_01:46090001 UMLS_CUI:C0004691 disease_ontology DOID:13031 balanoposthitis A Trichomonas vaginalis trichomoniasis that involves inflammation of the foreskin and glans in uncircumcised males caused by Trichomonas vaginalis resulting in redness of foreskin or penis, rash on the head of penis, foul-smelling discharge, and painful penis and foreskin. Trichomonal balanoposthitis (disorder) Trichomonal balanoposthitis [Ambiguous] Trichomonas Balanoposthitis trichomonal balanoposthitis disease_ontology DOID:13032 Trichomonas balanoposthitis true A Trichomonas vaginalis trichomoniasis that involves inflammation of the foreskin and glans in uncircumcised males caused by Trichomonas vaginalis resulting in redness of foreskin or penis, rash on the head of penis, foul-smelling discharge, and painful penis and foreskin. url:http://emedicine.medscape.com/article/230617-overview Trichomonal balanoposthitis (disorder) SNOMEDCT_2005_07_31:249414000 Trichomonal balanoposthitis [Ambiguous] SNOMEDCT_2005_07_31:236747009 Trichomonas Balanoposthitis NCI2004_11_17:C35406 ICD10CM:N48.1 MESH:D001446 NCI:C26705 SNOMEDCT_US_2016_03_01:155928003 SNOMEDCT_US_2016_03_01:198020004 SNOMEDCT_US_2016_03_01:198021000 SNOMEDCT_US_2016_03_01:266572002 SNOMEDCT_US_2016_03_01:371163003 SNOMEDCT_US_2016_03_01:44882003 UMLS_CUI:C0004690 disease_ontology DOID:13033 balanitis A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia, which is transmitted_by tick or transmitted_by body louse. ICD10CM:A68 ICD10CM:A68.9 ICD9CM:087 ICD9CM:087.9 MESH:D012061 SNOMEDCT_US_2016_03_01:186820006 SNOMEDCT_US_2016_03_01:186822003 SNOMEDCT_US_2016_03_01:187374004 SNOMEDCT_US_2016_03_01:420079008 SNOMEDCT_US_2016_03_01:46107006 UMLS_CUI:C0035021 disease_ontology DOID:13034 relapsing fever A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia, which is transmitted_by tick or transmitted_by body louse. url:http://www.cdc.gov/ncidod/dvbid/RelapsingFever/index.html A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material basis_in Borrelia recurrentis, which is transmitted_by body louse (Pediculus humanus). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy. ICD10CM:A68.0 ICD9CM:087.0 SNOMEDCT_US_2016_03_01:14683004 UMLS_CUI:C0152061 Louse-borne relapsing fever (disorder) Relapsing fever, louse-borne disease_ontology DOID:13035 louse-borne relapsing fever A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material basis_in Borrelia recurrentis, which is transmitted_by body louse (Pediculus humanus). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy. url:http://emedicine.medscape.com/article/787000-overview#a0104 Louse-borne relapsing fever (disorder) SNOMEDCT_2005_07_31:14683004 Relapsing fever, louse-borne ICD9CM_2006:087.0 A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material basis_in Borrelia hermsii, has_material basis_in Borrelia parkeri or has_material basis_in Borrelia duttoni, which are transmitted_by soft ticks (Ornithodoros parkeri and Ornithodoros hermsii). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy. ICD10CM:A68.1 ICD9CM:087.1 NCI:C34976 SNOMEDCT_US_2016_03_01:10301003 SNOMEDCT_US_2016_03_01:186821005 UMLS_CUI:C0035022 Relapsing fever, tick-borne Tick-borne relapsing fever (disorder) Tick-borne relapsing fever NOS (disorder) disease_ontology DOID:13036 tick-borne relapsing fever A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material basis_in Borrelia hermsii, has_material basis_in Borrelia parkeri or has_material basis_in Borrelia duttoni, which are transmitted_by soft ticks (Ornithodoros parkeri and Ornithodoros hermsii). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy. url:http://emedicine.medscape.com/article/787000-overview#a0104 url:http://en.wikipedia.org/wiki/Relapsing_fever Relapsing fever, tick-borne ICD9CM_2006:087.1 Tick-borne relapsing fever (disorder) SNOMEDCT_2005_07_31:10301003 Tick-borne relapsing fever NOS (disorder) SNOMEDCT_2005_07_31:186821005 ICD10CM:H02.22 ICD9CM:374.22 SNOMEDCT_US_2016_03_01:193939008 SNOMEDCT_US_2016_03_01:21783006 UMLS_CUI:C0155198 disease_ontology DOID:13037 mechanical lagophthalmos ICD10CM:H02.21 ICD9CM:374.23 SNOMEDCT_US_2016_03_01:193940005 SNOMEDCT_US_2016_03_01:9042000 UMLS_CUI:C0155199 disease_ontology DOID:13038 cicatricial lagophthalmos Syphilitic optic atrophy (disorder) disease_ontology DOID:13040 syphilitic optic atrophy true Syphilitic optic atrophy (disorder) SNOMEDCT_2005_07_31:22386003 ICD10CM:P29.3 ICD9CM:747.83 MESH:D010547 NCI:C85006 OMIM:265380 SNOMEDCT_US_2016_03_01:204507004 SNOMEDCT_US_2016_03_01:206597007 SNOMEDCT_US_2016_03_01:233815004 SNOMEDCT_US_2016_03_01:35604006 UMLS_CUI:C0031190 Fetal circulation Persistent fetal circulation Persistent fetal circulation (disorder) Persistent fetal circulation syndrome (disorder) Persistent pulmonary hypertension of the newborn (disorder) congenital alveolar capillary dysplasia with misalignment of pulmonary veins persistent pulmonary hypertension of the newborn disease_ontology DOID:13042 OMIM mapping confirmed by DO. [SN]. persistent fetal circulation syndrome Fetal circulation SNOMEDCT_2005_07_31:204507004 Persistent fetal circulation ICD9CM_2006:747.83 Persistent fetal circulation (disorder) SNOMEDCT_2005_07_31:206597007 Persistent fetal circulation syndrome (disorder) SNOMEDCT_2005_07_31:35604006 Persistent pulmonary hypertension of the newborn (disorder) SNOMEDCT_2005_07_31:233815004 persistent pulmonary hypertension of the newborn CSP2005:0723-5955 persistent pulmonary hypertension of the newborn CSP2005:2595-6954 A sphenoid sinusitis which lasts for less than 4 weeks. ICD10CM:J01.3 ICD10CM:J01.30 ICD9CM:461.3 SNOMEDCT_US_2016_03_01:155501004 SNOMEDCT_US_2016_03_01:266378004 SNOMEDCT_US_2016_03_01:77919000 UMLS_CUI:C0155807 Sphenoidal sinus -acute disease_ontology DOID:13046 acute sphenoidal sinusitis A sphenoid sinusitis which lasts for less than 4 weeks. url:http://en.wikipedia.org/wiki/sinusitis Sphenoidal sinus -acute SNOMEDCT_2005_07_31:266378004 An ancylostomiasis that is characterized by skin manifestations (cutaneous larva migrans) occuring due to migrating larvae of Ancylostoma braziliense in the upper epidermis. It is marked by the presence of erythematous, serpiginous and pruritic cutaneous eruptions. Ancylostomiasis due to Ancylostoma Braziliense Ancylostomiasis due to Ancylostoma braziliense (disorder) Ancylostomiasis due to ancylostoma braziliense disease_ontology DOID:13047 Ancylostoma braziliense ancylostomiasis true An ancylostomiasis that is characterized by skin manifestations (cutaneous larva migrans) occuring due to migrating larvae of Ancylostoma braziliense in the upper epidermis. It is marked by the presence of erythematous, serpiginous and pruritic cutaneous eruptions. url:http://www.dpd.cdc.gov/dpdx/HTML/Hookworm.htm url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1720113/pdf/v090p00998.pdf Ancylostomiasis due to Ancylostoma Braziliense NCI2004_11_17:C35175 Ancylostomiasis due to Ancylostoma braziliense (disorder) SNOMEDCT_2005_07_31:22728002 Ancylostomiasis due to ancylostoma braziliense ICD9CM_2006:126.2 An ancylostomiasis that involves parasitic infection of the small intestine in humans, cats and dogs by the nematode Ancylostoma duodenale. The symptoms include abdominal pain, loss of appetite, geophagy and anemia. Ancylostomiasis due to Ancylostoma Duodenale Ancylostomiasis due to Ancylostoma duodenale Ancylostomiasis due to Ancylostoma duodenale (disorder) disease_ontology DOID:13049 Ancylostoma duodenale ancylostomiasis true An ancylostomiasis that involves parasitic infection of the small intestine in humans, cats and dogs by the nematode Ancylostoma duodenale. The symptoms include abdominal pain, loss of appetite, geophagy and anemia. url:http://en.wikipedia.org/wiki/Ancylostoma_duodenale Ancylostomiasis due to Ancylostoma Duodenale NCI2004_11_17:C34374 Ancylostomiasis due to Ancylostoma duodenale SNOMEDCT_2005_07_31:85807000 Ancylostomiasis due to Ancylostoma duodenale (disorder) SNOMEDCT_2005_07_31:7386008 A HIV encephalopathy that results_in infection in adults located_in brain, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, has_symptom behavioral change, and has_symptom speech problems. AIDS Dementia HIV associated cognitive and motor complex HIV-associated dementia acquired immune deficiency syndrome dementia complex disease_ontology DOID:1305 AIDS dementia complex true A HIV encephalopathy that results_in infection in adults located_in brain, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, has_symptom behavioral change, and has_symptom speech problems. url:http://en.wikipedia.org/wiki/AIDS_dementia_complex AIDS Dementia NCI2004_11_17:C2864 HIV associated cognitive and motor complex CSP2005:1560-6280 acquired immune deficiency syndrome dementia complex SNOMEDCT_2005_07_31:192178000 ICD9CM:620.1 UMLS_CUI:C0156361 disease_ontology DOID:13050 corpus luteum cyst An acquired immunodeficiency syndrome that results_in infection located_in brain, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, and has_symptom behavioral change. AIDS Encephalopathy Human immunodefiency virus encephalopathy disease_ontology DOID:1306 HIV encephalopathy true An acquired immunodeficiency syndrome that results_in infection located_in brain, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, and has_symptom behavioral change. url:http://emedicine.medscape.com/article/1166894-overview AIDS Encephalopathy NCI2004_11_17:C3715 Human immunodefiency virus encephalopathy SNOMEDCT_2005_07_31:31363004 ICD9CM:365.65 SNOMEDCT_US_2016_03_01:68241007 UMLS_CUI:C0339594 Glaucoma associated with ocular trauma disease_ontology DOID:13060 traumatic glaucoma Glaucoma associated with ocular trauma ICD9CM_2006:365.65 Major depressive disorder, recurrent episode, moderate degree Moderate recurrent major depression (disorder) recurrent depressive disorder, current episode moderate (disorder) disease_ontology DOID:13063 moderate recurrent major depression true Major depressive disorder, recurrent episode, moderate degree ICD9CM_2006:296.32 Moderate recurrent major depression (disorder) SNOMEDCT_2005_07_31:18818009 recurrent depressive disorder, current episode moderate (disorder) SNOMEDCT_2005_07_31:192376009 ICD10CM:N25.0 ICD9CM:588.0 MESH:D012080 NCI:C114827 SNOMEDCT_US_2016_03_01:155858005 SNOMEDCT_US_2016_03_01:16726004 SNOMEDCT_US_2016_03_01:197668007 SNOMEDCT_US_2016_03_01:266617009 UMLS_CUI:C0035086 renal rickets disease_ontology DOID:13068 renal osteodystrophy renal rickets SNOMEDCT_2005_07_31:197667002 A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior. ICD9CM:290.8 UMLS_CUI:C0154319 disease_ontology DOID:1307 dementia A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior. url:http://www.nlm.nih.gov/medlineplus/ency/article/000739.htm ICD9CM:701.1 NCI:C34746 SNOMEDCT_US_2016_03_01:201053002 SNOMEDCT_US_2016_03_01:201064004 SNOMEDCT_US_2016_03_01:20637002 SNOMEDCT_US_2016_03_01:267805003 SNOMEDCT_US_2016_03_01:400166009 UMLS_CUI:C0022581 Keratoderma - acquired Keratoderma, acquired acquired Keratoderma acquired keratoderma acquired keratoderma (disorder) acquired keratoderma NOS acquired keratoderma NOS (disorder) disease_ontology DOID:13072 acquired hyperkeratosis Keratoderma - acquired SNOMEDCT_2005_07_31:201053002 Keratoderma, acquired ICD9CM_2006:701.1 acquired Keratoderma NCI2004_11_17:C34746 acquired keratoderma SNOMEDCT_2005_07_31:20637002 acquired keratoderma (disorder) SNOMEDCT_2005_07_31:400166009 acquired keratoderma NOS SNOMEDCT_2005_07_31:201064004 acquired keratoderma NOS (disorder) SNOMEDCT_2005_07_31:267805003 A dermatophytosis that results_in fungal infection located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which cause separation of the nail plate from the nail bed and has_symptom thickening of subungueal area. Sometimes, white islands are seen on the external nail plates. These gradually coalesce until the entire nail plate is involved. DOID:10462 DOID:11399 DOID:11761 DOID:12844 DOID:12845 DOID:12846 DOID:12847 DOID:12848 DOID:13119 DOID:9412 DOID:9690 DOID:9691 ICD9CM:681.9 UMLS_CUI:C0007644 Dermatophytic onychia Dermatophytosis of nail Onychomycosis due to dermatophyte cellulitis and abscess of buttock cellulitis and abscess of face cellulitis and abscess of finger cellulitis and abscess of finger and toe cellulitis and abscess of gluteal region cellulitis and abscess of trunk cellulitis and abscess of upper arm and forearm dermatophytic onychomycosis disease_ontology Tinea unguium cellulitis and abscess DOID:13074 tinea unguium A dermatophytosis that results_in fungal infection located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which cause separation of the nail plate from the nail bed and has_symptom thickening of subungueal area. Sometimes, white islands are seen on the external nail plates. These gradually coalesce until the entire nail plate is involved. url:http://en.wikipedia.org/wiki/Nail_disease url:http://en.wikipedia.org/wiki/Onychomycosis Dermatophytic onychia MTHICD9_2006:110.1 Dermatophytosis of nail ICD9CM_2006:110.1 Onychomycosis due to dermatophyte SNOMEDCT_2005_07_31:402134005 cellulitis and abscess of buttock ICD9CM_2006:682.5 An actinomycosis that involves invasion and infiltration located_in large intestine, located_in greater omentum, or located_in abdominal wall, has_material_basis_in Actinomyces israelii, has_material_basis_in Actinomyces naeslundii, has_material_basis_in Actinomyces odontolyticus, has_material_basis_in Actinomyces viscosus or has_material_basis_in Actinomyces meyeri, which produce a characteristic granulomatous inflammatory response, with pus production and has_symptom abscess formation. disease_ontology DOID:13076 abdominal actinomycosis true An actinomycosis that involves invasion and infiltration located_in large intestine, located_in greater omentum, or located_in abdominal wall, has_material_basis_in Actinomyces israelii, has_material_basis_in Actinomyces naeslundii, has_material_basis_in Actinomyces odontolyticus, has_material_basis_in Actinomyces viscosus or has_material_basis_in Actinomyces meyeri, which produce a characteristic granulomatous inflammatory response, with pus production and has_symptom abscess formation. url:http://www.ncbi.nlm.nih.gov/sites/entrez/14616714 An actinomycosis that results_in infection located_in skin, has_material_basis_in Actinomyces israelii, which invades the soft tissue resulting in the formation of abnormal channels leading to the skin surface (external sinus tracts) that discharge pale yellow sulfur granules. disease_ontology DOID:13077 cutaneous actinomycosis true An actinomycosis that results_in infection located_in skin, has_material_basis_in Actinomyces israelii, which invades the soft tissue resulting in the formation of abnormal channels leading to the skin surface (external sinus tracts) that discharge pale yellow sulfur granules. url:http://dermatology.cdlib.org/113/case_reports/actinomycosis/fazeli.html url:http://en.wikipedia.org/wiki/Cutaneous_actinomycosis A dermatomycosis that effects skin and subcutaneous tissue located_in foot, located_in trunk, located_in buttocks, located_in eyelids, located_in lacrimal glands, located_in paranasal sinuses, located_in mandible, located_in scalp, located_in neck, located_in perineum, or located_in testes and has_symptom sinus discharge and results_in_formation_of nodules. ICD10CM:B47 ICD10CM:B47.9 MESH:D008271 NCI:C85505 SNOMEDCT_US_2016_03_01:187497002 SNOMEDCT_US_2016_03_01:410039003 UMLS_CUI:C0024449 Madura foot Maduromycosis, mycotic Mycotic mycetoma eumycetoma maduromycosis disease_ontology DOID:13078 eumycotic mycetoma A dermatomycosis that effects skin and subcutaneous tissue located_in foot, located_in trunk, located_in buttocks, located_in eyelids, located_in lacrimal glands, located_in paranasal sinuses, located_in mandible, located_in scalp, located_in neck, located_in perineum, or located_in testes and has_symptom sinus discharge and results_in_formation_of nodules. url:http://emedicine.medscape.com/article/1090738-overview url:http://en.wikipedia.org/wiki/Maduromycosis url:http://www.mycology.adelaide.edu.au/Mycoses/Subcutaneous/Mycetoma/index.html Madura foot ICD9CM_2006:039.4 Maduromycosis, mycotic MTHICD9_2006:117.4 Mycotic mycetoma SNOMEDCT_2005_07_31:29761005 A Human immunodeficiency virus infectious disease that results_in infection with mild symptoms, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom swollen lymph glands, has_symptom fever, has_symptom diarrhea, and has_symptom weight loss. AIDS-like syndrome acquired immune deficiency syndrome (& [ARC]) disease_ontology DOID:1308 AIDS related complex true A Human immunodeficiency virus infectious disease that results_in infection with mild symptoms, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom swollen lymph glands, has_symptom fever, has_symptom diarrhea, and has_symptom weight loss. url:http://chestofbooks.com/health/natural-cure/Ross-Horne/Health-and-Survival-in-the-21st-Century/AIDS-Related-Complex-ARC.html url:http://www.medterms.com/script/main/art.asp?articlekey=10924 AIDS-like syndrome MTHICD9_2006:042 acquired immune deficiency syndrome (& [ARC]) SNOMEDCT_2005_07_31:154368002 ICD10CM:M12.0 ICD10CM:M12.00 ICD9CM:714.4 SNOMEDCT_US_2016_03_01:123247007 SNOMEDCT_US_2016_03_01:84801008 UMLS_CUI:C0152084 Jaccoud syndrome disease_ontology DOID:13080 Jaccoud's syndrome NCI:C8540 SNOMEDCT_US_2016_03_01:189195009 SNOMEDCT_US_2016_03_01:254823000 SNOMEDCT_US_2016_03_01:93473009 UMLS_CUI:C0685200 Angioma of the Subcutaneous tissue Subcutaneous haemangioma Subcutaneous hemangioma (disorder) hemangioma of subcutaneous tissue (disorder) disease_ontology DOID:13081 hemangioma of subcutaneous tissue Angioma of the Subcutaneous tissue NCI2004_11_17:C8540 Subcutaneous haemangioma SNOMEDCT_2005_07_31:189195009 Subcutaneous hemangioma (disorder) SNOMEDCT_2005_07_31:254823000 hemangioma of subcutaneous tissue (disorder) SNOMEDCT_2005_07_31:93473009 A syndrome that involves pre-excitation of the ventricles due to an accessory pathway providing an abnormal electrical communication from the atria to the ventricles. ICD10CM:I45.6 ICD9CM:426.81 MESH:D008151 ORDO:844 SNOMEDCT_US_2016_03_01:55475008 UMLS_CUI:C0024054 atrial tachyarrhythmia with short PR interval syndrome of short P-R interval, normal QRS complexes, and supraventricular tachycardias disease_ontology DOID:13087 Lown-Ganong-Levine syndrome A syndrome that involves pre-excitation of the ventricles due to an accessory pathway providing an abnormal electrical communication from the atria to the ventricles. url:http://en.wikipedia.org/wiki/Lown-Ganong-Levine_syndrome atrial tachyarrhythmia with short PR interval ORDO:844 syndrome of short P-R interval, normal QRS complexes, and supraventricular tachycardias MTHICD9_2006:426.81 ICD10CM:P91.2 ICD9CM:779.7 MESH:D007969 NCI:C99013 SNOMEDCT_US_2016_03_01:230769007 UMLS_CUI:C0023529 disease_ontology DOID:13088 periventricular leukomalacia MESH:D020765 UMLS_CUI:C0752138 disease_ontology DOID:13089 intracranial arterial disease ICD10CM:H34.23 ICD9CM:362.32 MESH:D015356 NCI:C34436 SNOMEDCT_US_2016_03_01:50821009 UMLS_CUI:C0006123 Arterial retinal branch occlusion (disorder) Retinal Arterial Branch Occlusion Retinal arterial branch occlusion disease_ontology DOID:13094 branch retinal artery occlusion Arterial retinal branch occlusion (disorder) SNOMEDCT_2005_07_31:50821009 Retinal Arterial Branch Occlusion NCI2004_11_17:C34436 Retinal arterial branch occlusion ICD9CM_2006:362.32 MESH:D014715 UMLS_CUI:C0042560 Vertebral artery syndrome Vertebral artery syndrome (disorder) disease_ontology DOID:13095 vertebral artery insufficiency Vertebral artery syndrome ICD9CM_2006:435.1 Vertebral artery syndrome NCI2004_11_17:C35123 Vertebral artery syndrome SNOMEDCT_2005_07_31:195198000 Vertebral artery syndrome (disorder) SNOMEDCT_2005_07_31:34781003 MESH:D018860 OMIM:182410 SNOMEDCT_US_2016_03_01:238776001 UMLS_CUI:C0282492 Idiopathic livedo reticularis with systemic involvement (disorder) disease_ontology DOID:13096 Sneddon syndrome Idiopathic livedo reticularis with systemic involvement (disorder) SNOMEDCT_2005_07_31:238776001 MESH:D002537 UMLS_CUI:C0007771 disease_ontology DOID:13097 intracranial arteriosclerosis A retinal artery occlusion characterized by blockage of blood flow through the central retinal artery. ICD10CM:H34.1 ICD9CM:362.31 MESH:D015356 NCI:C34456 SNOMEDCT_US_2016_03_01:38742007 UMLS_CUI:C0007688 disease_ontology DOID:13098 central retinal artery occlusion A retinal artery occlusion characterized by blockage of blood flow through the central retinal artery. url:http://en.wikipedia.org/wiki/Central_retinal_artery_occlusion A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots. ICD10CM:I67.5 ICD9CM:437.5 MESH:D009072 NCI:C84895 OMIM:252350 OMIM:300845 OMIM:607151 OMIM:608796 OMIM:614042 OMIM:615750 ORDO:2573 ORDO:280679 ORDO:401945 SNOMEDCT_US_2016_03_01:69116000 SNOMEDCT_US_2016_03_01:89142007 UMLS_CUI:C0026654 progressive intracranial arterial occlusion disease_ontology DOID:13099 Xref MGI. OMIM mapping confirmed by DO. [SN]. Moyamoya disease A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots. url:http://en.wikipedia.org/wiki/Moyamoya_disease url:http://rarediseases.info.nih.gov/gard/7064/moyamoya-disease/resources/1 MESH:D020301 UMLS_CUI:C0751895 disease_ontology DOID:13100 intracranial vasospasm NCI:C6178 UMLS_CUI:C1332560 leiomyoma of the urinary bladder disease_ontology DOID:13109 bladder leiomyoma leiomyoma of the urinary bladder NCI2004_11_17:C6178 A renal infectious disease and is_a Human immunodeficiency virus infectious disease that results_in infection located_in kidney, has_material_basis_in has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom nephrotic-range proteinuria (>3.5 g/d), has_symptom azotemia, has_symptom hypoalbuminemia, and has_symptom hyperlipidemia. AIDS nephropathy AIDS-Related nephropathy AIDS-associated nephropathy disease_ontology DOID:1311 HIV-associated nephropathy true A renal infectious disease and is_a Human immunodeficiency virus infectious disease that results_in infection located_in kidney, has_material_basis_in has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom nephrotic-range proteinuria (>3.5 g/d), has_symptom azotemia, has_symptom hypoalbuminemia, and has_symptom hyperlipidemia. url:http://emedicine.medscape.com/article/246031-overview AIDS-Related nephropathy NCI2004_11_17:C26918 NCI:C39834 UMLS_CUI:C1511199 disease_ontology DOID:13110 bladder squamous papilloma ICD9CM:374.02 SNOMEDCT_US_2016_03_01:38683003 UMLS_CUI:C0155189 disease_ontology DOID:13112 mechanical entropion ICD9CM:374.04 SNOMEDCT_US_2016_03_01:67383002 UMLS_CUI:C0155191 disease_ontology DOID:13113 cicatricial entropion A nail disease characterized by often-tender bacterial or fungal hand infection or foot infection due to either bacteria or fungus (Candida albicans) where the nail and skin meet at the side or the base of a finger or toe nail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia). Puss is usually present, along with gradual thickening and browning discoloration of the nail plate. DOID:11398 DOID:9689 ICD10CM:L03.0 MESH:D010304 NCI:C79702 SNOMEDCT_US_2016_03_01:156305000 SNOMEDCT_US_2016_03_01:200643006 SNOMEDCT_US_2016_03_01:267830000 SNOMEDCT_US_2016_03_01:71906005 UMLS_CUI:C0030578 Infected nailfold Onychia and paronychia of finger Onychia and paronychia of toe fungal nail infection disease_ontology paronychia inflammation DOID:13117 paronychia A nail disease characterized by often-tender bacterial or fungal hand infection or foot infection due to either bacteria or fungus (Candida albicans) where the nail and skin meet at the side or the base of a finger or toe nail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia). Puss is usually present, along with gradual thickening and browning discoloration of the nail plate. url:http://en.wikipedia.org/wiki/Paronychia Infected nailfold SNOMEDCT_2005_07_31:200643006 DOID:3945 EFO:0004236 MESH:D005923 NCI:C37308 OMIM:PS603278 SNOMEDCT_US_2016_03_01:236403004 SNOMEDCT_US_2016_03_01:25821008 UMLS_CUI:C0017668 FGS (focal glomerular sclerosis) FSGS focal glomerular sclerosis focal glomerulosclerosis disease_ontology DOID:1312 Xref MGI. OMIM mapping confirmed by DO. [SN]. focal segmental glomerulosclerosis FGS (focal glomerular sclerosis) CSP2005:4003-0020 FSGS SNOMEDCT_2005_07_31:236403004 ICD10CM:D53.0 ICD9CM:281.4 SNOMEDCT_US_2016_03_01:191156009 SNOMEDCT_US_2016_03_01:191159002 SNOMEDCT_US_2016_03_01:85746008 UMLS_CUI:C0154290 Anemia due to protein deficiency (disorder) Protein-deficiency anemia (disorder) Protein-deficiency anemia NOS (disorder) disease_ontology DOID:13120 protein-deficiency anemia Anemia due to protein deficiency (disorder) SNOMEDCT_2005_07_31:85746008 Protein-deficiency anemia (disorder) SNOMEDCT_2005_07_31:191156009 Protein-deficiency anemia NOS (disorder) SNOMEDCT_2005_07_31:191159002 ICD9CM:281.9 SNOMEDCT_US_2016_03_01:191125001 SNOMEDCT_US_2016_03_01:191168000 SNOMEDCT_US_2016_03_01:267513007 UMLS_CUI:C0041782 Unspecified deficiency anemia deficiency anemias (disorder) deficiency anemias NOS (disorder) disease_ontology DOID:13121 deficiency anemia Unspecified deficiency anemia ICD9CM_2006:281.9 deficiency anemias (disorder) SNOMEDCT_2005_07_31:267513007 deficiency anemias NOS (disorder) SNOMEDCT_2005_07_31:191168000 ICD9CM:098.53 SNOMEDCT_US_2016_03_01:186929006 SNOMEDCT_US_2016_03_01:53664003 UMLS_CUI:C0153219 Gonococcal spondylitis (disorder) disease_ontology DOID:13127 gonococcal spondylitis Gonococcal spondylitis (disorder) SNOMEDCT_2005_07_31:53664003 A pre-eclampsia that has_symptom at least one of the following: SBP of 160mm HG or higher or DPB of 110mm HG or higher on 2 occasions at least 6 hours apart, proteinuria more than 5g in a 24-hour collection, pulmonary edema or cyanosis, oliguria, persistent headaches, epigastric pain and/or impaired liver function, thrombocytopenia, oligohydramnios, decreased fetal growth or placental abruption. DOID:13130 DOID:13131 DOID:13132 ICD9CM:642.50 UMLS_CUI:C0156669 Severe pre-eclampsia, with delivery antepartum severe pre-eclampsia postpartum severe pre-eclampsia severe preeclampsia disease_ontology DOID:13129 severe pre-eclampsia A pre-eclampsia that has_symptom at least one of the following: SBP of 160mm HG or higher or DPB of 110mm HG or higher on 2 occasions at least 6 hours apart, proteinuria more than 5g in a 24-hour collection, pulmonary edema or cyanosis, oliguria, persistent headaches, epigastric pain and/or impaired liver function, thrombocytopenia, oligohydramnios, decreased fetal growth or placental abruption. url:http://emedicine.medscape.com/article/1476919-overview An acquired immunodeficiency syndrome that results_in involuntary loss of more than 10% of body weight, plus more than 30 days of either diarrhea, or weakness and fever, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. Human immunodeficiency virus infection wasting syndrome disease_ontology AIDS wasting syndrome DOID:1313 HIV wasting syndrome true An acquired immunodeficiency syndrome that results_in involuntary loss of more than 10% of body weight, plus more than 30 days of either diarrhea, or weakness and fever, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. url:http://en.wikipedia.org/wiki/AIDS_wasting_syndrome url:http://www.aidsinfonet.org/fact_sheets/view/519 Human immunodeficiency virus infection wasting syndrome SNOMEDCT_2005_07_31:186727001 AIDS wasting syndrome CSP2005:0944-7730 A severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count. ICD10CM:O14.2 MESH:D017359 NCI:C84750 SNOMEDCT_US_2016_03_01:199010001 SNOMEDCT_US_2016_03_01:95605009 UMLS_CUI:C0162739 disease_ontology DOID:13133 HELLP syndrome A severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=24400024 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=25879992 A blepharitis that is characterized by an infection of the sebaceous glands of Zeis at the base of the eyelashes, or an infection of the apocrine sweat glands of Moll. ICD10CM:H00.01 ICD10CM:H00.03 ICD9CM:373.11 SNOMEDCT_US_2016_03_01:1489008 SNOMEDCT_US_2016_03_01:193912000 SNOMEDCT_US_2016_03_01:193913005 SNOMEDCT_US_2016_03_01:61523007 UMLS_CUI:C0019919 external stye disease_ontology DOID:13134 hordeolum externum A blepharitis that is characterized by an infection of the sebaceous glands of Zeis at the base of the eyelashes, or an infection of the apocrine sweat glands of Moll. url:http://en.wikipedia.org/wiki/Stye ICD9CM:376.22 SNOMEDCT_US_2016_03_01:69763009 UMLS_CUI:C0152135 disease_ontology DOID:13135 exophthalmic ophthalmoplegia ICD10CM:G12.0 ICD9CM:335.0 MESH:D014897 NCI:C98670 OMIM:253300 SNOMEDCT_US_2016_03_01:155016008 SNOMEDCT_US_2016_03_01:267694009 SNOMEDCT_US_2016_03_01:64383006 UMLS_CUI:C0043116 HMN (Hereditary motor Neuropathy) Proximal type I hereditary motor neuropathy proximal type I infantile muscular atrophy progressive muscular atrophy of infancy disease_ontology Werdnig-Hoffman disease DOID:13137 OMIM mapping confirmed by DO. [SN]. Werdnig-Hoffmann disease infantile muscular atrophy CSP2005:2057-3620 progressive muscular atrophy of infancy MTHICD9_2006:335.0 Werdnig-Hoffman disease SNOMEDCT_2005_07_31:155016008 ICD9CM:580.0 SNOMEDCT_US_2016_03_01:197579006 UMLS_CUI:C0341692 acute glomerulonephritis with lesion of proliferative glomerulonephritis disease_ontology DOID:13138 acute proliferative glomerulonephritis acute glomerulonephritis with lesion of proliferative glomerulonephritis ICD9CM_2006:580.0 NCI:C35444 SNOMEDCT_US_2016_03_01:236398000 SNOMEDCT_US_2016_03_01:45406000 UMLS_CUI:C0403416 disease_ontology DOID:13139 crescentic glomerulonephritis Wasting disease Wasting disease (context-dependent category) Wasting disease (disorder) Wasting disease, NOS disease_ontology DOID:1314 wasting syndrome true Wasting disease MTHICD9_2006:799.4 Wasting disease SNOMEDCT_2005_07_31:271878009 Wasting disease (context-dependent category) SNOMEDCT_2005_07_31:207559001 Wasting disease (disorder) SNOMEDCT_2005_07_31:288517002 Wasting disease, NOS SNOMEDCT_2005_07_31:28928000 MESH:D015829 UMLS_CUI:C0042168 disease_ontology DOID:13140 suppurative uveitis ICD10CM:H20.9 MESH:D014605 NCI:C26909 SNOMEDCT_US_2016_03_01:128473001 SNOMEDCT_US_2016_03_01:155116005 SNOMEDCT_US_2016_03_01:193499001 SNOMEDCT_US_2016_03_01:267719008 SNOMEDCT_US_2016_03_01:75614007 UMLS_CUI:C0042164 disease_ontology DOID:13141 uveitis ICD9CM:405.1 NCI:C3658 SNOMEDCT_US_2016_03_01:194785008 SNOMEDCT_US_2016_03_01:194787000 SNOMEDCT_US_2016_03_01:44111003 UMLS_CUI:C0155620 disease_ontology DOID:13143 benign secondary hypertension ICD9CM:405.11 UMLS_CUI:C0155621 disease_ontology DOID:13145 benign renovascular hypertension A candidiasis that involves fungal infection of the esophagus by Candida albicans in immunocompromised people, resulting in lesions, bleeding, painful swallowing and substernal pain. ICD10CM:B37.81 ICD9CM:112.84 NCI:C27027 SNOMEDCT_US_2016_03_01:187023002 SNOMEDCT_US_2016_03_01:20639004 UMLS_CUI:C0239295 Candida Esophagitis Candidal esophagitis Candidiasis of the esophagus (disorder) esophageal moniliasis esophageal thrush disease_ontology DOID:13146 esophageal candidiasis A candidiasis that involves fungal infection of the esophagus by Candida albicans in immunocompromised people, resulting in lesions, bleeding, painful swallowing and substernal pain. url:http://en.wikipedia.org/wiki/Esophageal_candidiasis url:http://www.accessmedicine.com/resourceTOC.aspx?resourceID=4 Candida Esophagitis NCI2004_11_17:C27027 Candidal esophagitis ICD9CM_2006:112.84 Candidiasis of the esophagus (disorder) SNOMEDCT_2005_07_31:20639004 esophageal moniliasis SNOMEDCT_2005_07_31:187023002 NCI:C27107 SNOMEDCT_US_2016_03_01:235602008 UMLS_CUI:C0341109 disease_ontology DOID:13147 fungal esophagitis A cystitis characterized by a sudden onset or severe symptoms. ICD10CM:N30.0 ICD9CM:595.0 NCI:C26934 SNOMEDCT_US_2016_03_01:155883005 SNOMEDCT_US_2016_03_01:197833009 SNOMEDCT_US_2016_03_01:266628008 SNOMEDCT_US_2016_03_01:68226007 UMLS_CUI:C0149523 urinary tract infection disease_ontology DOID:13148 acute cystitis A cystitis characterized by a sudden onset or severe symptoms. url:http://en.wikipedia.org/wiki/Urinary_tract_infection A pulmonary tuberculosis in which tissue deep in the lungs becomes thick and stiff (scarred). Tuberculous Fibrosis of lung Tuberculous fibrosis of lung (disorder) Tuberculous fibrosis of lung, unspecified examination disease_ontology DOID:13149 tuberculous lung fibrosis true A pulmonary tuberculosis in which tissue deep in the lungs becomes thick and stiff (scarred). url:http://www.nhlbi.nih.gov/health/dci/Diseases/ipf/ipf_whatis.html Tuberculous Fibrosis of lung NCI2004_11_17:C35088 Tuberculous fibrosis of lung (disorder) SNOMEDCT_2005_07_31:90117007 Tuberculous fibrosis of lung, unspecified examination ICD9CM_2006:011.40 Sensory disorder of eyelid Sensory disorder of eyelid (disorder) disease_ontology DOID:13157 sensory disorder of eyelid true Sensory disorder of eyelid ICD9CM_2006:374.44 Sensory disorder of eyelid (disorder) SNOMEDCT_2005_07_31:193950006 Sensory disorder of eyelid (disorder) SNOMEDCT_2005_07_31:38872009 NCI:C4643 SNOMEDCT_US_2016_03_01:276860003 UMLS_CUI:C0349551 Scrotal squamous cell carcinoma squamous cell carcinoma of scrotum (disorder) disease_ontology squamous cell carcinoma of scrotum DOID:13159 scrotum squamous cell carcinoma Scrotal squamous cell carcinoma NCI2004_11_17:C4643 squamous cell carcinoma of scrotum (disorder) SNOMEDCT_2005_07_31:276860003 NCI:C7361 UMLS_CUI:C1331544 melanoma of scrotum disease_ontology DOID:13160 scrotum melanoma melanoma of scrotum NCI2004_11_17:C7361 A commensal Alcaligenaceae infectious disease that is caused by the bacterium Bordetella pertussis resulting in difficulty breathing. Pertussis pneumonia Pneumonia in whooping cough disease_ontology DOID:13164 Bordetella pertussis pneumonia true A commensal Alcaligenaceae infectious disease that is caused by the bacterium Bordetella pertussis resulting in difficulty breathing. url:http://en.wikipedia.org/wiki/Pertussis url:http://www.merck.com/mmhe/sec23/ch272/ch272g.html?qt=pertussis%20pneumonia&alt=sh Pertussis pneumonia SNOMEDCT_2005_07_31:155556004 Pneumonia in whooping cough ICD9CM_2006:484.3 An aspergillosis that involves infection of the lung with Aspergillus, which causes pneumonia in people with an impaired immune system. The symptoms include wheezing, coughing and fever. Pneumonia in aspergillosis disease_ontology DOID:13165 Aspergillus pneumonia true An aspergillosis that involves infection of the lung with Aspergillus, which causes pneumonia in people with an impaired immune system. The symptoms include wheezing, coughing and fever. url:http://www.merck.com/mmhe/sec04/ch051/ch051d.html url:http://www.ncbi.nlm.nih.gov/sites/entrez/15735246 Pneumonia in aspergillosis ICD9CM_2006:484.6 An aspergillosis that involves an allergic reaction due to the spores of Aspergillus moulds (A. fumigatus), which colonizes the mucus in the airways causing inflammation. The disease has_symptom cough, has_symptom wheezing and has_symptom fever. ICD10CM:B44.81 ICD9CM:518.6 MESH:D001229 NCI:C84547 OMIM:103920 SNOMEDCT_US_2016_03_01:37981002 UMLS_CUI:C0004031 pulmonary aspergillus disease disease_ontology DOID:13166 OMIM mapping confirmed by DO. [SN]. allergic bronchopulmonary aspergillosis An aspergillosis that involves an allergic reaction due to the spores of Aspergillus moulds (A. fumigatus), which colonizes the mucus in the airways causing inflammation. The disease has_symptom cough, has_symptom wheezing and has_symptom fever. ls:IEDB url:http://www.merck.com/mmhe/sec04/ch051/ch051d.html url:http://www.nlm.nih.gov/medlineplus/ency/article/000070.htm pulmonary aspergillus disease SNOMEDCT_2005_07_31:187086008 ICD10CM:C60.0 ICD9CM:187.1 SNOMEDCT_US_2016_03_01:363450006 SNOMEDCT_US_2016_03_01:93805009 UMLS_CUI:C0153598 malignant neoplasm of foreskin malignant tumor of foreskin (disorder) disease_ontology DOID:13168 prepuce cancer malignant neoplasm of foreskin MTHICD9_2006:187.1 malignant neoplasm of foreskin SNOMEDCT_2005_07_31:93805009 malignant tumor of foreskin (disorder) SNOMEDCT_2005_07_31:363450006 ICD10CM:C63.1 ICD9CM:187.6 NCI:C3559 SNOMEDCT_US_2016_03_01:154537000 SNOMEDCT_US_2016_03_01:269606007 SNOMEDCT_US_2016_03_01:363453008 SNOMEDCT_US_2016_03_01:94065000 UMLS_CUI:C0153603 Spermatic cord Ca malignant tumor of spermatic cord (disorder) malignant tumor of the Spermatic Cord disease_ontology DOID:13169 spermatic cord cancer Spermatic cord Ca SNOMEDCT_2005_07_31:154537000 Spermatic cord Ca SNOMEDCT_2005_07_31:269606007 Spermatic cord Ca SNOMEDCT_2005_07_31:94065000 malignant tumor of spermatic cord (disorder) SNOMEDCT_2005_07_31:363453008 malignant tumor of the Spermatic Cord NCI2004_11_17:C3559 ICD10CM:H55.04 ICD9CM:379.55 MESH:D009759 SNOMEDCT_US_2016_03_01:9520006 UMLS_CUI:C0155380 Dissociated nystagmus Dissociated nystagmus (disorder) disease_ontology DOID:13174 dissociated nystagmus Dissociated nystagmus ICD9CM_2006:379.55 Dissociated nystagmus (disorder) SNOMEDCT_2005_07_31:9520006 disease_ontology Tuberculosis of female genital organs DOID:13175 female genital tuberculosis true disease_ontology DOID:13177 chronic erythremia in remission true MESH:D045723 UMLS_CUI:C0917875 disease_ontology DOID:13185 esophageal diverticulosis MESH:D004931 NCI:C34811 SNOMEDCT_US_2016_03_01:70667005 UMLS_CUI:C0025164 disease_ontology DOID:13186 megaesophagus An arthritis that has_material_basis_in uric acid crystal deposits located_in joint. DOID:14144 EFO:0004274 ICD10CM:M10 ICD10CM:M10.9 ICD9CM:274 ICD9CM:274.0 ICD9CM:274.00 ICD9CM:274.9 MESH:D006073 MESH:D015210 NCI:C34650 SNOMEDCT_US_2016_03_01:147966005 SNOMEDCT_US_2016_03_01:154745008 SNOMEDCT_US_2016_03_01:154746009 SNOMEDCT_US_2016_03_01:170733007 SNOMEDCT_US_2016_03_01:190827003 SNOMEDCT_US_2016_03_01:190828008 SNOMEDCT_US_2016_03_01:190844004 SNOMEDCT_US_2016_03_01:201661008 SNOMEDCT_US_2016_03_01:201662001 SNOMEDCT_US_2016_03_01:201672003 SNOMEDCT_US_2016_03_01:48440001 SNOMEDCT_US_2016_03_01:90560007 UMLS_CUI:C0003868 UMLS_CUI:C0018099 Articular gout Gouty arthropathy gouty arthritis disease_ontology DOID:13189 gout An arthritis that has_material_basis_in uric acid crystal deposits located_in joint. url:http://en.wikipedia.org/wiki/Gout url:http://www.mayoclinic.com/health/gout/DS00090 url:http://www.medicinenet.com/gout/article.htm url:http://www.nlm.nih.gov/medlineplus/ency/article/000422.htm Articular gout SNOMEDCT_2005_07_31:48440001 Gouty arthropathy ICD9CM_2006:274.0 SNOMEDCT_2005_07_31:154746009 gouty arthritis SNOMEDCT_2005_07_31:154745008 SNOMEDCT_2005_07_31:190827003 A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain. DOID:2125 DOID:2126 DOID:3543 DOID:6649 DOID:911 CSP:2006-2736 ICD10CM:C71 ICD10CM:C71.9 ICD9CM:191 ICD9CM:191.9 ICD9CM:239.6 MESH:D001932 NCI:C2907 NCI:C3568 NCI:C4952 NCI:C4954 NCI:C5115 NCI:C7710 SNOMEDCT_US_2016_03_01:126952004 SNOMEDCT_US_2016_03_01:154550004 SNOMEDCT_US_2016_03_01:188279009 SNOMEDCT_US_2016_03_01:188305001 SNOMEDCT_US_2016_03_01:189537005 SNOMEDCT_US_2016_03_01:254935002 SNOMEDCT_US_2016_03_01:269610005 SNOMEDCT_US_2016_03_01:275464006 SNOMEDCT_US_2016_03_01:363356001 SNOMEDCT_US_2016_03_01:428061005 SNOMEDCT_US_2016_03_01:93727008 UMLS_CUI:C0006118 UMLS_CUI:C0153633 UMLS_CUI:C0220624 UMLS_CUI:C0750974 UMLS_CUI:C0750979 UMLS_CUI:C1334557 BT - Brain tumour adult brain tumor adult malignant brain neoplasm brain neoplasm brain neoplasm, adult malignant brain tumour malignant primary brain neoplasm malignant primary brain tumor malignant tumor of Brain malignant tumor of adult brain neoplasm of brain (disorder) neoplasm of unspecified nature of brain neoplasm of unspecified nature of brain (disorder) primary brain neoplasm primary brain tumor primary malignant neoplasm of brain (disorder) tumor of the Brain disease_ontology DOID:1319 brain cancer A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain. url:http://www.cancer.gov/dictionary?CdrID=387264 BT - Brain tumour SNOMEDCT_2005_07_31:254935002 brain neoplasm CSP2005:2006-2736 brain neoplasm, adult NCI2004_11_17:C7710 malignant brain tumour SNOMEDCT_2005_07_31:363356001 malignant primary brain neoplasm NCI2004_11_17:C4954 malignant tumor of Brain NCI2004_11_17:C3568 malignant tumor of adult brain NCI2004_11_17:C5115 neoplasm of brain (disorder) SNOMEDCT_2005_07_31:126952004 neoplasm of unspecified nature of brain ICD9CM_2006:239.6 neoplasm of unspecified nature of brain (disorder) SNOMEDCT_2005_07_31:189537005 primary brain neoplasm NCI2004_11_17:C4952 primary malignant neoplasm of brain (disorder) SNOMEDCT_2005_07_31:93727008 tumor of the Brain NCI2004_11_17:C2907 pulmonary congestion and hypostasis (disorder) pulmonary congestion and hypostasis NOS (disorder) disease_ontology DOID:13192 pulmonary congestion and hypostasis true pulmonary congestion and hypostasis (disorder) SNOMEDCT_2005_07_31:196115007 pulmonary congestion and hypostasis NOS (disorder) SNOMEDCT_2005_07_31:196120007 Non-toxic nodular Goiter Non-toxic nodular goiter (disorder) Non-toxic nodular goiter NOS (disorder) Non-toxic nodular goitre Nontoxic nodular goiter Nontoxic nodular goiter NOS Nontoxic nodular goitre NOS Unspecified nontoxic nodular goiter disease_ontology DOID:13194 non-toxic nodular goiter true Non-toxic nodular Goiter NCI2004_11_17:C34647 Non-toxic nodular goiter (disorder) SNOMEDCT_2005_07_31:190236006 Non-toxic nodular goiter NOS (disorder) SNOMEDCT_2005_07_31:267371002 Non-toxic nodular goitre SNOMEDCT_2005_07_31:60968001 Nontoxic nodular goiter ICD9CM_2006:241 Nontoxic nodular goiter NOS MTHICD9_2006:241.9 Nontoxic nodular goitre NOS SNOMEDCT_2005_07_31:190238007 Unspecified nontoxic nodular goiter ICD9CM_2006:241.9 ICD10CM:E04.0 ICD10CM:E04.9 NCI:C35271 SNOMEDCT_US_2016_03_01:154650009 SNOMEDCT_US_2016_03_01:154654000 SNOMEDCT_US_2016_03_01:267369002 SNOMEDCT_US_2016_03_01:267463000 SNOMEDCT_US_2016_03_01:286908001 SNOMEDCT_US_2016_03_01:60968001 UMLS_CUI:C0221777 Goiter, non-toxic NOS (disorder) Goitre, non-toxic NOS Nodule-thyroid, non tox Non-toxic goitre Non-toxic simple goitre Nontoxic Goiter disease_ontology DOID:13195 nontoxic goiter Goiter, non-toxic NOS (disorder) SNOMEDCT_2005_07_31:286908001 Goitre, non-toxic NOS SNOMEDCT_2005_07_31:154654000 Nodule-thyroid, non tox SNOMEDCT_2005_07_31:154650009 Nodule-thyroid, non tox SNOMEDCT_2005_07_31:267463000 Non-toxic goitre SNOMEDCT_2005_07_31:60968001 Non-toxic simple goitre SNOMEDCT_2005_07_31:267369002 Nontoxic Goiter NCI2004_11_17:C35271 MESH:D047268 SNOMEDCT_US_2016_03_01:75667007 UMLS_CUI:C0271760 disease_ontology DOID:13196 lingual goiter MESH:D006044 SNOMEDCT_US_2016_03_01:190236006 SNOMEDCT_US_2016_03_01:237570007 SNOMEDCT_US_2016_03_01:419153005 UMLS_CUI:C0018023 Goiter, nodular nodular goiter NOS nodular goitre disease_ontology DOID:13197 nodular goiter Goiter, nodular MTH:494 Goiter, nodular MTH:733 nodular goiter NOS MTHICD9_2006:241.9 nodular goitre SNOMEDCT_2005_07_31:190236006 ICD10CM:E01.0 ICD10CM:E01.2 ICD9CM:240.0 MESH:D006043 NCI:C35023 SNOMEDCT_US_2016_03_01:190234009 SNOMEDCT_US_2016_03_01:190316007 SNOMEDCT_US_2016_03_01:190319000 SNOMEDCT_US_2016_03_01:191043000 SNOMEDCT_US_2016_03_01:267369002 SNOMEDCT_US_2016_03_01:271949009 SNOMEDCT_US_2016_03_01:56805008 UMLS_CUI:C0018022 Iodine-deficiency-related endemic goitre simple goitre disease_ontology DOID:13198 endemic goiter Iodine-deficiency-related endemic goitre SNOMEDCT_2005_07_31:190316007 simple goitre SNOMEDCT_2005_07_31:190234009 MESH:D006045 SNOMEDCT_US_2016_03_01:190234009 SNOMEDCT_US_2016_03_01:66392007 UMLS_CUI:C0018024 Retrosternal thyroid goiter Substernal goiter (disorder) disease_ontology DOID:13200 substernal goiter Retrosternal thyroid goiter SNOMEDCT_2005_07_31:190234009 Substernal goiter (disorder) SNOMEDCT_2005_07_31:66392007 Syphilitic iridocyclitis (secondary) secondary syphilitic iridocyclitis (disorder) disease_ontology DOID:13202 secondary syphilitic iridocyclitis true Syphilitic iridocyclitis (secondary) ICD9CM_2006:091.52 secondary syphilitic iridocyclitis (disorder) SNOMEDCT_2005_07_31:30080002 DOID:13220 DOID:13225 ICD10CM:N40 ICD9CM:600.1 UMLS_CUI:C0748012 disease_ontology DOID:13206 nodular prostate ICD9CM:362.02 NCI:C84457 SNOMEDCT_US_2016_03_01:154679002 SNOMEDCT_US_2016_03_01:59276001 UMLS_CUI:C0154830 PDR disease_ontology DOID:13207 proliferative diabetic retinopathy PDR SNOMEDCT_2005_07_31:59276001 ICD9CM:362.01 ICD9CM:362.03 NCI:C34408 NCI:C35668 SNOMEDCT_US_2016_03_01:154680004 SNOMEDCT_US_2016_03_01:31411005 SNOMEDCT_US_2016_03_01:390718008 SNOMEDCT_US_2016_03_01:390834004 UMLS_CUI:C0004606 Non proliferative diabetic retinopathy Non-Proliferative Diabetic Retinopathy disease_ontology DOID:13208 background diabetic retinopathy Non proliferative diabetic retinopathy SNOMEDCT_2005_07_31:390718008 Non-Proliferative Diabetic Retinopathy NCI2004_11_17:C35668 ICD9CM:426.51 SNOMEDCT_US_2016_03_01:46319007 UMLS_CUI:C0155704 Right bundle branch block with left posterior fascicular block (disorder) disease_ontology DOID:13209 right bundle branch block Right bundle branch block with left posterior fascicular block (disorder) SNOMEDCT_2005_07_31:46319007 secondary malignant neoplasm of brain and spinal cord (disorder) secondary malignant neoplasm of brain or spinal cord NOS (disorder) disease_ontology DOID:13211 secondary malignant neoplasm of brain and spinal cord true secondary malignant neoplasm of brain and spinal cord (disorder) SNOMEDCT_2005_07_31:188462001 secondary malignant neoplasm of brain or spinal cord NOS (disorder) SNOMEDCT_2005_07_31:188465004 metastasis to skin metastatic skin carcinoma metastatic tumor to the skin secondary malignant neoplasm of skin secondary malignant neoplasm of skin (disorder) secondary malignant neoplasm of skin NOS (disorder) disease_ontology DOID:13212 metastasis to skin true metastasis to skin SNOMEDCT_2005_07_31:154570005 metastasis to skin SNOMEDCT_2005_07_31:188453003 metastatic skin carcinoma NCI2004_11_17:C5628 metastatic tumor to the skin NCI2004_11_17:C5629 secondary malignant neoplasm of skin ICD9CM_2006:198.2 secondary malignant neoplasm of skin (disorder) SNOMEDCT_2005_07_31:94579000 secondary malignant neoplasm of skin NOS (disorder) SNOMEDCT_2005_07_31:188461008 metastatic tumor to the breast secondary malignant neoplasm of breast secondary malignant neoplasm of female breast (disorder) disease_ontology DOID:13213 metastatic cancer to the breast true metastatic tumor to the breast NCI2004_11_17:C7511 secondary malignant neoplasm of breast ICD9CM_2006:198.81 secondary malignant neoplasm of female breast (disorder) SNOMEDCT_2005_07_31:94297009 ICD10CM:H35.34 ICD9CM:362.54 SNOMEDCT_US_2016_03_01:1079004 SNOMEDCT_US_2016_03_01:193388002 SNOMEDCT_US_2016_03_01:267612009 UMLS_CUI:C1261331 Macular cyst or hole Macular cyst, hole, or pseudohole of retina Macular pseudohole retinal cyst disease_ontology DOID:13214 hole retinal cyst Macular cyst or hole SNOMEDCT_2005_07_31:193388002 Macular cyst, hole, or pseudohole of retina ICD9CM_2006:362.54 Macular pseudohole retinal cyst SNOMEDCT_2005_07_31:1079004 Trans-sexualism with heterosexual history Transsexuality with heterosexual history (disorder) disease_ontology DOID:13219 transsexuality with heterosexual history true Trans-sexualism with heterosexual history ICD9CM_2006:302.53 Transsexuality with heterosexual history (disorder) SNOMEDCT_2005_07_31:191785009 ICD10CM:D25.0 ICD9CM:218.0 SNOMEDCT_US_2016_03_01:95279007 UMLS_CUI:C0153993 Submucous leiomyoma of uterus Submucous leiomyoma of uterus (disorder) disease_ontology DOID:13222 submucous uterine fibroid Submucous leiomyoma of uterus ICD9CM_2006:218.0 Submucous leiomyoma of uterus (disorder) SNOMEDCT_2005_07_31:95279007 A uterine benign neoplasm derived from the smooth muscle layer of the uterus. EFO:0000731 HP:0000131 ICD10CM:D25 ICD10CM:D25.9 ICD9CM:218 ICD9CM:218.9 MESH:D007889 NCI:C3434 OMIM:150699 SNOMEDCT_US_2016_03_01:146801000119103 SNOMEDCT_US_2016_03_01:154616000 SNOMEDCT_US_2016_03_01:189106003 SNOMEDCT_US_2016_03_01:44598004 SNOMEDCT_US_2016_03_01:95315005 UMLS_CUI:C0042133 Plexiform leiomyoma UTERUS FIBROMA leiomyoma of Corpus Uteri uterine leiomyoma disease_ontology DOID:13223 OMIM mapping confirmed by DO. [LS]. uterine fibroid A uterine benign neoplasm derived from the smooth muscle layer of the uterus. url:http://en.wikipedia.org/wiki/Uterine_fibroid url:http://www.nlm.nih.gov/medlineplus/uterinefibroids.html Plexiform leiomyoma SNOMEDCT_2005_07_31:44598004 UTERUS FIBROMA MTH:769 leiomyoma of Corpus Uteri NCI2004_11_17:C3434 uterine leiomyoma ICD9CM_2006:218 disease_ontology DOID:13224 introverted personality true A tularemia that results_in inflammation of eye and swelling of lymph glands in front of the ear. ICD10CM:A21.1 ICD9CM:021.3 SNOMEDCT_US_2016_03_01:73363000 UMLS_CUI:C0152944 Oculoglandular tularemia (disorder) disease_ontology DOID:13226 oculoglandular tularemia A tularemia that results_in inflammation of eye and swelling of lymph glands in front of the ear. url:http://www.cdc.gov/tularemia/signssymptoms/ Oculoglandular tularemia (disorder) SNOMEDCT_2005_07_31:73363000 ICD9CM:362.77 UMLS_CUI:C0154866 retinal dystrophies primarily involving Bruch membrane disease_ontology DOID:13227 retinal dystrophies primarily involving Bruch's membrane malignant neoplasm of trachea, bronchus and lung (disorder) malignant neoplasm of trachea, bronchus, and lung disease_ontology DOID:1323 malignant neoplasm of trachea, bronchus and lung true malignant neoplasm of trachea, bronchus and lung (disorder) SNOMEDCT_2005_07_31:187852000 malignant neoplasm of trachea, bronchus, and lung ICD9CM_2006:162 disease_ontology DOID:13232 Diffuse cholesteatosis of middle ear and mastoid true A primary bacterial infectious disease that results_in infection, has_material_basis_in Streptobacillus moniliformis, which is transmitted_by contact with urine or secretions from the mouth, eye, or nose of an infected animal or transmitted_by bite of an infected animal, especially rat. The infection has_symptom chills, has_symptom fever, has_symptom rash and has_symptom joint pain. ICD10CM:A25.1 ICD9CM:026.1 SNOMEDCT_US_2016_03_01:52138004 UMLS_CUI:C0152063 Streptobacillary fever disease_ontology Streptobacillary rat-bite fever Streptobacillosis DOID:13238 Haverhill fever A primary bacterial infectious disease that results_in infection, has_material_basis_in Streptobacillus moniliformis, which is transmitted_by contact with urine or secretions from the mouth, eye, or nose of an infected animal or transmitted_by bite of an infected animal, especially rat. The infection has_symptom chills, has_symptom fever, has_symptom rash and has_symptom joint pain. url:http://protmed.uoradea.ro/facultate/anale/protectia_mediului/2009/miscellaneous/06.Indries%20Mirela%202.pdf url:http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002324/ Streptobacillary fever ICD9CM_2006:026.1 ICD9CM:521.41 UMLS_CUI:C1456167 disease_ontology DOID:13239 internal pathological resorption A respiratory system cancer that is located_in the lung. DOID:13075 DOID:1322 DOID:9881 ICD10CM:C34.1 ICD10CM:C34.2 ICD10CM:C34.3 ICD9CM:162.3 ICD9CM:162.4 ICD9CM:162.5 ICD9CM:162.8 OMIM:211980 OMIM:608935 OMIM:612571 OMIM:612593 OMIM:614210 SNOMEDCT_US_2016_03_01:187860004 SNOMEDCT_US_2016_03_01:187863002 SNOMEDCT_US_2016_03_01:187864008 SNOMEDCT_US_2016_03_01:187867001 SNOMEDCT_US_2016_03_01:187868006 SNOMEDCT_US_2016_03_01:187871003 SNOMEDCT_US_2016_03_01:187874006 SNOMEDCT_US_2016_03_01:269464000 UMLS_CUI:C0024624 UMLS_CUI:C0153491 UMLS_CUI:C0153492 UMLS_CUI:C0153493 disease_ontology lung neoplasm DOID:1324 lung cancer A respiratory system cancer that is located_in the lung. url:http://en.wikipedia.org/wiki/Lung_cancer ICD10CM:K03.3 ICD9CM:521.4 MESH:D014091 SNOMEDCT_US_2016_03_01:196316003 SNOMEDCT_US_2016_03_01:70931000 UMLS_CUI:C0040451 disease_ontology DOID:13240 tooth resorption A vasculitis that is characterized by an autoimmune mediated inflammation of the blood vessels throughout the body leading to ulcerations on the mouth and sometimes the genitals, notorious for causing hypopyon uveitis. EFO:0003780 ICD10CM:M35.2 ICD9CM:136.1 MESH:D001528 NCI:C34416 OMIM:109650 SNOMEDCT_US_2016_03_01:154424000 SNOMEDCT_US_2016_03_01:310701003 SNOMEDCT_US_2016_03_01:41225007 UMLS_CUI:C0004943 Adamantiades-Behcet disease Behcet syndrome Behet's syndrome triple symptom complex disease_ontology Behcet's syndrome DOID:13241 OMIM mapping confirmed by DO. [SN]. Behcet's disease A vasculitis that is characterized by an autoimmune mediated inflammation of the blood vessels throughout the body leading to ulcerations on the mouth and sometimes the genitals, notorious for causing hypopyon uveitis. url:http://en.wikipedia.org/wiki/Beh%C3%A7et%27s_disease url:http://www.nlm.nih.gov/medlineplus/behcetssyndrome.html Adamantiades-Behcet disease SNOMEDCT_2005_07_31:310701003 Behet's syndrome SNOMEDCT_2005_07_31:41225007 triple symptom complex CSP2005:0944-7825 Behcet's syndrome ICD9CM_2006:136.1 NCI:C3241 SNOMEDCT_US_2016_03_01:53773002 UMLS_CUI:C0026684 Appendicele Mucocele Mucocele of appendix (disorder) disease_ontology DOID:13248 mucocele of appendix Appendicele Mucocele NCI2004_11_17:C3241 Mucocele of appendix (disorder) SNOMEDCT_2005_07_31:53773002 MESH:D011006 SNOMEDCT_US_2016_03_01:117631000119103 SNOMEDCT_US_2016_03_01:17465007 UMLS_CUI:C0032266 Pneumatosis cystoides intestinalis (disorder) disease_ontology DOID:13249 pneumatosis cystoides intestinalis Pneumatosis cystoides intestinalis (disorder) SNOMEDCT_2005_07_31:17465007 A respiratory system cancer that is located_in the bronchus. ICD10CM:C34 ICD10CM:C34.9 ICD9CM:162.9 SNOMEDCT_US_2016_03_01:187875007 SNOMEDCT_US_2016_03_01:190092003 SNOMEDCT_US_2016_03_01:269465004 UMLS_CUI:C0348343 malignant neoplasm of bronchus and lung, unspecified malignant neoplasm of bronchus or lung NOS (disorder) malignant neoplasm of bronchus or lung, unspecified (disorder) disease_ontology DOID:1325 bronchus cancer A respiratory system cancer that is located_in the bronchus. url:http://en.wikipedia.org/wiki/Bronchus malignant neoplasm of bronchus and lung, unspecified ICD9CM_2006:162.9 malignant neoplasm of bronchus or lung NOS (disorder) SNOMEDCT_2005_07_31:269465004 malignant neoplasm of bronchus or lung, unspecified (disorder) SNOMEDCT_2005_07_31:190092003 A gastrointestinal system disease described as the condition of having frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. The loss of fluids through diarrhea can cause severe dehydration which is one cause of death in diarrhea sufferers. Along with water, sufferers also lose dangerous amounts of important salts, electrolytes, and other nutrients. There are at least four types of diarrhea: secretory diarrhea, osmotic diarrhea, motility-related diarrhea, and inflammatory diarrhea. DOID:0050006 ICD9CM:009.2 MESH:D004403 SNOMEDCT_US_2016_03_01:111939009 SNOMEDCT_US_2016_03_01:154268000 SNOMEDCT_US_2016_03_01:154279005 SNOMEDCT_US_2016_03_01:186165000 SNOMEDCT_US_2016_03_01:186167008 SNOMEDCT_US_2016_03_01:19213003 SNOMEDCT_US_2016_03_01:236076004 SNOMEDCT_US_2016_03_01:266173000 SNOMEDCT_US_2016_03_01:266180003 UMLS_CUI:C0013369 disease_ontology diarrhea of presumed infectious origin diarrhoea DOID:13250 diarrhea A gastrointestinal system disease described as the condition of having frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. The loss of fluids through diarrhea can cause severe dehydration which is one cause of death in diarrhea sufferers. Along with water, sufferers also lose dangerous amounts of important salts, electrolytes, and other nutrients. There are at least four types of diarrhea: secretory diarrhea, osmotic diarrhea, motility-related diarrhea, and inflammatory diarrhea. url:http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea A Human immunodeficiency virus infectious disease that results_in infection characterized by chronic diarrhea lasting longer than 1 month, without an identified infectious cause after thorough evaluation, in an HIV-positive individual, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. It is observed that HIV-infected individuals have histologic abnormalities of the gastrointestinal mucosa, malabsorption, and lymphocyte depletion causing diarrhea, increased gastrointestinal inflammation, increased intestinal permeability, and malabsorption of bile acid and vitamin B12. disease_ontology DOID:13251 HIV enteropathy true A Human immunodeficiency virus infectious disease that results_in infection characterized by chronic diarrhea lasting longer than 1 month, without an identified infectious cause after thorough evaluation, in an HIV-positive individual, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. It is observed that HIV-infected individuals have histologic abnormalities of the gastrointestinal mucosa, malabsorption, and lymphocyte depletion causing diarrhea, increased gastrointestinal inflammation, increased intestinal permeability, and malabsorption of bile acid and vitamin B12. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2777614/pdf/nihms-156875.pdf MESH:D008641 UMLS_CUI:C0025472 disease_ontology DOID:13252 mesenteric vascular occlusion disease_ontology DOID:13253 jejunal disease true A colonic disease characterized by the formation and inflammation of diverticula within the colon wall. DOID:10757 ICD9CM:562.12 MESH:D004239 UMLS_CUI:C0156168 colonic diverticular disease disease_ontology DOID:13254 diverticulitis of colon A colonic disease characterized by the formation and inflammation of diverticula within the colon wall. url:https://en.wikipedia.org/wiki/Diverticulitis An African histoplasmosis that results_in inflammation located_in endocardium, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom murmurs, has_symptom peripheral edema, has_symptom pulmonary rales, has_symptom petechia and has_symptom skin lesions. Histoplasma duboisii with endocarditis (disorder) disease_ontology DOID:13257 Histoplasma duboisii endocarditis true An African histoplasmosis that results_in inflammation located_in endocardium, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom murmurs, has_symptom peripheral edema, has_symptom pulmonary rales, has_symptom petechia and has_symptom skin lesions. url:http://emedicine.medscape.com/article/299054-overview Histoplasma duboisii with endocarditis (disorder) SNOMEDCT_2005_07_31:187051006 A primary bacterial infectious disease that is a communicable systemic illness, has_material_basis_in Salmonella enterica subsp enterica serovar Typhi, which is transmitted_by ingestion of food or water contaminated with the feces of an infected person. The infection has_symptom fever, has_symptom diarrhea, has_symptom prostration, has_symptom headache, has_symptom splenomegaly, has_symptom liver enlargement, has_symptom eruption of rose-colored spots, and has_symptom leukopenia. DOID:3054 ICD10CM:A01.0 ICD10CM:A01.00 ICD9CM:002.0 MESH:D014435 NCI:C35089 SNOMEDCT_US_2016_03_01:154270009 SNOMEDCT_US_2016_03_01:186091002 SNOMEDCT_US_2016_03_01:266174006 SNOMEDCT_US_2016_03_01:4834000 UMLS_CUI:C0041466 Typhoid disease_ontology DOID:13258 typhoid fever A primary bacterial infectious disease that is a communicable systemic illness, has_material_basis_in Salmonella enterica subsp enterica serovar Typhi, which is transmitted_by ingestion of food or water contaminated with the feces of an infected person. The infection has_symptom fever, has_symptom diarrhea, has_symptom prostration, has_symptom headache, has_symptom splenomegaly, has_symptom liver enlargement, has_symptom eruption of rose-colored spots, and has_symptom leukopenia. url:http://www.merriam-webster.com/medlineplus/typhoid%20fever Typhoid SNOMEDCT_2005_07_31:154270009 Drug-induced hallucinatory state Drug-induced hallucinosis (disorder) Drug-induced psychotic disorder with hallucinations disease_ontology DOID:13262 hallucinatory state induced by drug true Drug-induced hallucinatory state SNOMEDCT_2005_07_31:28368009 Drug-induced hallucinosis (disorder) SNOMEDCT_2005_07_31:191486006 Drug-induced psychotic disorder with hallucinations ICD9CM_2006:292.12 An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins. ICD10CM:E80.20 ICD9CM:277.1 MESH:D011164 NCI:C97096 SNOMEDCT_US_2016_03_01:154768004 SNOMEDCT_US_2016_03_01:190912004 SNOMEDCT_US_2016_03_01:190916001 SNOMEDCT_US_2016_03_01:238052001 SNOMEDCT_US_2016_03_01:274090006 SNOMEDCT_US_2016_03_01:29094004 SNOMEDCT_US_2016_03_01:371628009 SNOMEDCT_US_2016_03_01:418470004 SNOMEDCT_US_2016_03_01:86292002 UMLS_CUI:C0032708 Hematoporphyria Porphyrinopathy disorder of porphyrin and hem metabolism disorder of porphyrin metabolism disease_ontology DOID:13268 porphyria An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins. url:http://en.wikipedia.org/wiki/Porphyria#Subtypes Hematoporphyria MTHICD9_2006:277.1 Porphyrinopathy SNOMEDCT_2005_07_31:371628009 disorder of porphyrin and hem metabolism SNOMEDCT_2005_07_31:238052001 disorder of porphyrin metabolism ICD9CM_2006:277.1 ICD10CM:E80.29 MESH:D046349 NCI:C84759 OMIM:121300 SNOMEDCT_US_2016_03_01:238055004 SNOMEDCT_US_2016_03_01:7425008 UMLS_CUI:C0162531 Coproporphyrinogen oxidase deficiency Hereditary coproporphyria Hereditary coproporphyria (disorder) hereditary coproporphyria porphyria disease_ontology DOID:13269 OMIM mapping confirmed by DO. [SN]. hereditary coproporphyria Coproporphyrinogen oxidase deficiency SNOMEDCT_2005_07_31:238055004 Hereditary coproporphyria MTHICD9_2006:277.1 Hereditary coproporphyria (disorder) SNOMEDCT_2005_07_31:7425008 hereditary coproporphyria porphyria CSP2005:1849-7674 An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue. ICD10CM:E80.0 MESH:D046351 NCI:C84698 OMIM:177000 OMIM:300752 ORDO:79278 SNOMEDCT_US_2016_03_01:51022005 UMLS_CUI:C0162568 EPP (erythropoietic protoporphyria porphyria) Erythropoietic protoporphyria (disorder) Protoporphyria disease_ontology DOID:13270 Xref MGI. OMIM mapping confirmed by DO. [SN]. erythropoietic protoporphyria An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue. url:http://en.wikipedia.org/wiki/Erythropoietic_protoporphyria EPP (erythropoietic protoporphyria porphyria) CSP2005:1849-7560 Erythropoietic protoporphyria (disorder) SNOMEDCT_2005_07_31:51022005 Protoporphyria MTHICD9_2006:277.1 ICD10CM:E80.0 MESH:D017092 NCI:C84697 OMIM:263700 SNOMEDCT_US_2016_03_01:190913009 SNOMEDCT_US_2016_03_01:22935002 SNOMEDCT_US_2016_03_01:67312003 UMLS_CUI:C0162530 Erythropoietic porphyria (disorder) disease_ontology DOID:13271 OMIM mapping confirmed by DO. [SN]. cutaneous porphyria Erythropoietic porphyria (disorder) SNOMEDCT_2005_07_31:67312003 A commensal bacterial infectious disease involving Klebsiella pneumoniae infection. Patients with Klebsiella pneumonia tend to cough up a characteristic sputum that is said to resemble "red-currant jelly". Klebsiella pneumonia tends to affect people with underlying diseases, such as alcoholism, diabetes and chronic lung disease. The symptoms include high fever, rigors and pleuritic pain, and hemoptysis. Pneumonia due to Klebsiella pneumoniae Pneumonia due to Klebsiella pneumoniae (disorder) disease_ontology DOID:13272 Klebsiella pneumonia true A commensal bacterial infectious disease involving Klebsiella pneumoniae infection. Patients with Klebsiella pneumonia tend to cough up a characteristic sputum that is said to resemble "red-currant jelly". Klebsiella pneumonia tends to affect people with underlying diseases, such as alcoholism, diabetes and chronic lung disease. The symptoms include high fever, rigors and pleuritic pain, and hemoptysis. url:http://books.google.com/books?id=Bv68Qo6apvQC&pg=PA639&lpg#v=onepage&q=&f=false url:http://en.wikipedia.org/wiki/Klebsiella_pneumonia Pneumonia due to Klebsiella pneumoniae ICD9CM_2006:482.0 Pneumonia due to Klebsiella pneumoniae (disorder) SNOMEDCT_2005_07_31:64479007 A commensal Escherichia coli infectious disease that is caused by Escherichia coli. The disease results from proliferation of aspirated organisms in terminal airways, usually at multiple sites in the lung. Multifocal area of consolidation result and terminal airways and alveoli are filled with proteinaceous fluid, fibrin, neutrophils, and macrophages. Pneumonia due to Escherichia coli (disorder) Pneumonia due to escherichia coli Pneumonia due to escherichia coli [E. coli] pneumonia due to escherichia coli disease_ontology DOID:13273 Escherichia coli pneumonia true A commensal Escherichia coli infectious disease that is caused by Escherichia coli. The disease results from proliferation of aspirated organisms in terminal airways, usually at multiple sites in the lung. Multifocal area of consolidation result and terminal airways and alveoli are filled with proteinaceous fluid, fibrin, neutrophils, and macrophages. url:http://books.google.com/books?id=kD9VZ267wDEC&pg=PA314&lpg#v=onepage&q=&f=false Pneumonia due to Escherichia coli (disorder) SNOMEDCT_2005_07_31:51530003 Pneumonia due to escherichia coli MTHICD9_2006:482.82 Pneumonia due to escherichia coli [E. coli] ICD9CM_2006:482.82 A bovine respiratory disease complex which is an infectious disease in calves involving stress and possibly an initial respiratory viral infection followed by a secondary bacterial infection of the lower respiratory tract. Mycoplasmal and bacterial agents including Pasteurella multocida, Mannheimia haemolytica, and Mycoplasma bovis represent the most frequently isolated pathogenic organisms. Enzootic pneumonia of calves (disorder) disease_ontology DOID:13274 enzootic pneumonia of calves true A bovine respiratory disease complex which is an infectious disease in calves involving stress and possibly an initial respiratory viral infection followed by a secondary bacterial infection of the lower respiratory tract. Mycoplasmal and bacterial agents including Pasteurella multocida, Mannheimia haemolytica, and Mycoplasma bovis represent the most frequently isolated pathogenic organisms. url:http://merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/121207.htm Enzootic pneumonia of calves (disorder) SNOMEDCT_2005_07_31:57086000 A rickettsiosis that is caused by the genus Rickettsia. This infection results in pleural effusions and pulmonary edema. Rickettsial pneumonia (disorder) disease_ontology DOID:13275 rickettsial pneumonia true A rickettsiosis that is caused by the genus Rickettsia. This infection results in pleural effusions and pulmonary edema. url:http://books.google.com/books?id=fYgVmmMKS50C&pg=RA1-PA412&lpg#v=onepage&q=&f=false Rickettsial pneumonia (disorder) SNOMEDCT_2005_07_31:233621003 A mycoplasmal pneumonia that is caused by the bacterial species Mycoplasma pneumoniae. The symptoms include chest pain, chills, dry cough which is not bloody, excessive sweating, fever, headache and sore throat. Mycoplasmal pneumonia Pneumonia due to Eaton's agent Pneumonia due to Mycoplasma pneumoniae Pneumonia due to Mycoplasma pneumoniae (disorder) cold agglutinin positive pneumonia disease_ontology DOID:13276 Mycoplasma pneumoniae pneumonia true A mycoplasmal pneumonia that is caused by the bacterial species Mycoplasma pneumoniae. The symptoms include chest pain, chills, dry cough which is not bloody, excessive sweating, fever, headache and sore throat. url:http://en.wikipedia.org/wiki/Pneumonia url:http://www.nlm.nih.gov/medlineplus/ency/article/000082.htm Mycoplasmal pneumonia SNOMEDCT_2005_07_31:155554001 Mycoplasmal pneumonia SNOMEDCT_2005_07_31:195894001 Mycoplasmal pneumonia SNOMEDCT_2005_07_31:195895000 Pneumonia due to Eaton's agent MTHICD9_2006:483.0 Pneumonia due to Mycoplasma pneumoniae ICD9CM_2006:483.0 Pneumonia due to Mycoplasma pneumoniae (disorder) SNOMEDCT_2005_07_31:46970008 cold agglutinin positive pneumonia CSP2005:2596-5678 A mycoplasmal pneumonia that is a contagious infection of pigs caused my Mycoplasma hyopneumoniae resulting in lung lesions and chronic cough. mycoplasmal pneumonia of swine disease_ontology DOID:13277 Mycoplasma hyopneumoniae pneumonia true A mycoplasmal pneumonia that is a contagious infection of pigs caused my Mycoplasma hyopneumoniae resulting in lung lesions and chronic cough. url:http://books.google.com/books?id=Ye48iZa98r0C&pg=PA194&lpg#v=onepage&q=&f=false A Salmonella infectious disease that is caused by Gram-negative bacteria of genus Salmonella which is rare in adults, although more common in children in the tropics. This infection is complicated by suppuration with lung abscess or empyema formation. Salmonella pneumonia (disorder) disease_ontology DOID:13278 Salmonella pneumonia true A Salmonella infectious disease that is caused by Gram-negative bacteria of genus Salmonella which is rare in adults, although more common in children in the tropics. This infection is complicated by suppuration with lung abscess or empyema formation. url:http://books.google.com/books?id=fYgVmmMKS50C&pg=RA1-PA422&lpg#v=onepage&q=&f=false Salmonella pneumonia (disorder) SNOMEDCT_2005_07_31:2523007 A viral infectious disease that results_in infection, has_material_basis_in Rift Valley fever virus, which is transmitted_by Aedes mosquitoes. The virus affects domestic animals (cattle, buffalo, sheep, goats, and camels) and humans. The infection has_symptom jaundice, has_symptom vomiting blood, has_symptom passing blood in the feces, has_symptom ecchymoses (caused by bleeding in the skin), has_symptom bleeding from the nose or gums, has_symptom menorrhagia and has_symptom bleeding from venepuncture sites. ICD10CM:A92.4 MESH:D012295 SNOMEDCT_US_2016_03_01:402917003 SNOMEDCT_US_2016_03_01:7077006 UMLS_CUI:C0035613 disease_ontology DOID:1328 Rift Valley fever A viral infectious disease that results_in infection, has_material_basis_in Rift Valley fever virus, which is transmitted_by Aedes mosquitoes. The virus affects domestic animals (cattle, buffalo, sheep, goats, and camels) and humans. The infection has_symptom jaundice, has_symptom vomiting blood, has_symptom passing blood in the feces, has_symptom ecchymoses (caused by bleeding in the skin), has_symptom bleeding from the nose or gums, has_symptom menorrhagia and has_symptom bleeding from venepuncture sites. url:ftp://ftp.fao.org/docrep/fao/005/y4140e/y4140e00.pdf url:http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/rvf/rvf_qa.htm url:http://www.who.int/mediacentre/factsheets/fs207/en/ A gastrointestinal tuberculosis that involves diffuse mucosal fold thickening, formation of ulcers and fistulae located_in intestine. The infection has_symptom abdominal pain, has_symptom gastrointestinal bleeding, has_symptom nausea and has_symptom vomiting. ICD9CM:014.8 UMLS_CUI:C0152724 tuberculosis of intestine disease_ontology DOID:13282 intestinal tuberculosis A gastrointestinal tuberculosis that involves diffuse mucosal fold thickening, formation of ulcers and fistulae located_in intestine. The infection has_symptom abdominal pain, has_symptom gastrointestinal bleeding, has_symptom nausea and has_symptom vomiting. url:http://smj.sma.org.sg/5006/5006pe1.pdf An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enteroinvasive Escherichia coli (EIEC), which penetrate and multiply within epithelial cells of the colon causing cell destruction. They do not produce toxins but they possess a specific adhesin, which is an outer membrane protein. The symptoms include dysentery-like diarrhea with fever. Enteroinvasive Escherichia coli gastrointestinal tract infection Enteroinvasive Escherichia coli gastrointestinal tract infection (disorder) intestinal infectious disease due to enteroinvasive E. coli disease_ontology DOID:13285 enteroinvasive Escherichia coli infectious disease true An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enteroinvasive Escherichia coli (EIEC), which penetrate and multiply within epithelial cells of the colon causing cell destruction. They do not produce toxins but they possess a specific adhesin, which is an outer membrane protein. The symptoms include dysentery-like diarrhea with fever. url:http://www.textbookofbacteriology.net/e.coli_4.html Enteroinvasive Escherichia coli gastrointestinal tract infection SNOMEDCT_2005_07_31:186132008 Enteroinvasive Escherichia coli gastrointestinal tract infection (disorder) SNOMEDCT_2005_07_31:240355008 intestinal infectious disease due to enteroinvasive E. coli ICD9CM_2006:008.03 ICD9CM:377.22 SNOMEDCT_US_2016_03_01:19148004 SNOMEDCT_US_2016_03_01:194048008 UMLS_CUI:C0155298 Crater-like optic disc holes disease_ontology DOID:13295 crater-like holes of optic disc Crater-like optic disc holes SNOMEDCT_2005_07_31:194048008 NCI:C40255 UMLS_CUI:C1519926 vaginal Muellerian papilloma disease_ontology DOID:133 vaginal Mullerian papilloma An osteochondrosis that results_in abnormal bone growth and curvature located_in thoracic vertebral column. ICD10CM:M42.0 ICD10CM:M42.00 ICD9CM:732.0 MESH:D012544 NCI:C34999 OMIM:181440 SNOMEDCT_US_2016_03_01:156816000 SNOMEDCT_US_2016_03_01:203361005 SNOMEDCT_US_2016_03_01:203362003 SNOMEDCT_US_2016_03_01:203364002 SNOMEDCT_US_2016_03_01:203415006 SNOMEDCT_US_2016_03_01:53406005 UMLS_CUI:C0036310 Juvenile osteochondritis of the spine Juvenile osteochondrosis of Scheurermann Juvenile osteochondrosis of spine Scheuermann's kyphosis Sherman's Disease Scheuermann disease disease_ontology DOID:13300 OMIM mapping confirmed by DO. [SN]. Scheuermann's disease An osteochondrosis that results_in abnormal bone growth and curvature located_in thoracic vertebral column. url:http://emedicine.medscape.com/article/311959-overview url:http://en.wikipedia.org/wiki/Scheuermann%27s_disease url:http://www.spineuniverse.com/conditions/kyphosis/scheuermanns-kyphosis-scheuermanns-disease url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Scheuermann%27s%20disease Juvenile osteochondritis of the spine SNOMEDCT_2005_07_31:203415006 Juvenile osteochondrosis of Scheurermann MTHICD9_2006:732.0 Juvenile osteochondrosis of spine ICD9CM_2006:732.0 A diphtheria that is characterized by a mucopurulent nasal discharge (containing both mucus and pus) which may become blood-tinged. A white membrane usually forms on the nasal septum. The disease is usually fairly mild because of apparent poor systemic absorption of toxin in this location, and it can be terminated rapidly by antitoxin and antibiotic therapy. Anterior nasal diphtheria Anterior nasal diphtheria (disorder) disease_ontology DOID:13305 anterior nasal diphtheria true A diphtheria that is characterized by a mucopurulent nasal discharge (containing both mucus and pus) which may become blood-tinged. A white membrane usually forms on the nasal septum. The disease is usually fairly mild because of apparent poor systemic absorption of toxin in this location, and it can be terminated rapidly by antitoxin and antibiotic therapy. url:http://www.cdc.gov/vaccines/pubs/pinkbook/downloads/dip.pdf Anterior nasal diphtheria ICD9CM_2006:032.2 Anterior nasal diphtheria (disorder) SNOMEDCT_2005_07_31:15682004 A cystits which involves inflammation and formation of a dense fibrous false membrane on the mucous membrane of the bladder. ICD10CM:A36.85 ICD9CM:032.84 SNOMEDCT_US_2016_03_01:197847008 SNOMEDCT_US_2016_03_01:48278001 UMLS_CUI:C0152954 disease_ontology DOID:13306 diphtheritic cystitis A cystits which involves inflammation and formation of a dense fibrous false membrane on the mucous membrane of the bladder. url:http://books.google.com/books?id=qpCgt_azaBcC&pg=PA191&lpg=PA191&dq#v=onepage&q=&f=false url:http://www.ncbi.nlm.nih.gov/pubmed/18889690 A pseudomembranous conjunctivitis characterized by swollen and reddened, hot and painful lids. The Corynebacterium diphtheriae bacilli produce profuse exudation which has a tendency to coagulate on the surface of the conjunctiva to form a grayish-white membrane. Conjunctival diphtheria Conjunctival diphtheria (disorder) Pseudomembranous Diphtheritic Conjunctivitis disease_ontology DOID:13307 pseudomembranous diphtheritic conjunctivitis true A pseudomembranous conjunctivitis characterized by swollen and reddened, hot and painful lids. The Corynebacterium diphtheriae bacilli produce profuse exudation which has a tendency to coagulate on the surface of the conjunctiva to form a grayish-white membrane. url:http://books.google.com/books?id=dOdhR9EytYcC&pg=PA104&lpg=PA104&dq#v=onepage&q=&f=false Conjunctival diphtheria ICD9CM_2006:032.81 Conjunctival diphtheria (disorder) SNOMEDCT_2005_07_31:7773002 Pseudomembranous Diphtheritic Conjunctivitis NCI2004_11_17:C34543 A myocarditis characterized by dilated cardiomyopathy and a variety of types of dysrhythmia and conduction disturbances. It is caused by Corynebacterium diphtheriae. Diphtheritic myocarditis (disorder) disease_ontology DOID:13308 diphtheritic myocarditis true A myocarditis characterized by dilated cardiomyopathy and a variety of types of dysrhythmia and conduction disturbances. It is caused by Corynebacterium diphtheriae. url:http://www.journals.uchicago.edu/doi/abs/10.1086/344176 Diphtheritic myocarditis (disorder) SNOMEDCT_2005_07_31:26117009 A diphtheria that involves membrane formation from the faucial tonsil areas over the pharyngeal wall and into the nasopharynx. Severe disease may cause marked edema of the submandibular areas and the anterior neck along with lymphadenopathy, giving a characteristic "bullneck" apprearance. Nasopharyngeal Diphtheria Nasopharyngeal diphtheria (disorder) disease_ontology DOID:13309 nasopharyngeal diphtheria true A diphtheria that involves membrane formation from the faucial tonsil areas over the pharyngeal wall and into the nasopharynx. Severe disease may cause marked edema of the submandibular areas and the anterior neck along with lymphadenopathy, giving a characteristic "bullneck" apprearance. url:http://www.jstor.org/stable/3417440?seq=2 Nasopharyngeal Diphtheria NCI2004_11_17:C34547 Nasopharyngeal diphtheria (disorder) SNOMEDCT_2005_07_31:75589004 A peritonitis which involves inflammation of peritoneal cavity by Corynebacterium diphtheriae. ICD10CM:A36.89 ICD9CM:032.83 SNOMEDCT_US_2016_03_01:13596001 UMLS_CUI:C0152953 disease_ontology DOID:13310 diphtheritic peritonitis A peritonitis which involves inflammation of peritoneal cavity by Corynebacterium diphtheriae. url:http://books.google.com/books?id=PRvTKedFeN8C&pg=PA505&lpg=PA505&dq#v=onepage&q=&f=false NCI:C5717 UMLS_CUI:C1335310 disease_ontology DOID:13313 pancreatic mucinous ductal ectasia disease_ontology DOID:13315 relapsing pancreatitis true MESH:D010188 NCI:C84316 SNOMEDCT_US_2016_03_01:47367009 UMLS_CUI:C0267963 Exocrine pancreatic insufficiency (disorder) disease_ontology DOID:13316 exocrine pancreatic insufficiency Exocrine pancreatic insufficiency (disorder) SNOMEDCT_2005_07_31:47367009 A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin. DOID:9996 ICD10CM:E16.9 MESH:D046768 NCI:C4375 OMIM:256450 OMIM:601820 OMIM:602485 OMIM:606762 OMIM:609968 OMIM:609975 OMIM:610021 SNOMEDCT_US_2016_03_01:190450004 SNOMEDCT_US_2016_03_01:237649006 SNOMEDCT_US_2016_03_01:360337007 SNOMEDCT_US_2016_03_01:42681006 SNOMEDCT_US_2016_03_01:66149005 UMLS_CUI:C0027773 Islet cell hyperplasia nesidioblastosis persistent hyperinsulinemia hypoglycemia of infancy disease_ontology DOID:13317 OMIM mapping confirmed by DO. [SN]. hyperinsulinemic hypoglycemia A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin. url:http://en.wikipedia.org/wiki/Hyperinsulinemic_hypoglycemia Islet cell hyperplasia SNOMEDCT_2005_07_31:66149005 Mast cell malignancy of lymph nodes of inguinal region and lower limb (disorder) malignant mast cell tumors involving lymph nodes of inguinal region and lower limb disease_ontology DOID:13319 lower limb lymph node mast cell malignancy true Mast cell malignancy of lymph nodes of inguinal region and lower limb (disorder) SNOMEDCT_2005_07_31:188666005 malignant mast cell tumors involving lymph nodes of inguinal region and lower limb ICD9CM_2006:202.65 A (-)ssRNA virus infectious disease that results_in infection in rodents and humans, has_material_basis_in Bunyaviridae viruses, which are transmitted_by arthropod vectors. disease_ontology DOID:1332 Bunyaviridae infectious disease true A (-)ssRNA virus infectious disease that results_in infection in rodents and humans, has_material_basis_in Bunyaviridae viruses, which are transmitted_by arthropod vectors. url:http://en.wikipedia.org/wiki/Bunyaviridae ICD10CM:H10.43 ICD9CM:372.12 SNOMEDCT_US_2016_03_01:39429002 UMLS_CUI:C0155147 disease_ontology DOID:13326 chronic follicular conjunctivitis ICD9CM:365.02 UMLS_CUI:C0154941 disease_ontology DOID:13327 anatomical narrow angle borderline glaucoma ICD9CM:366.41 SNOMEDCT_US_2016_03_01:154678005 SNOMEDCT_US_2016_03_01:155129005 SNOMEDCT_US_2016_03_01:267471001 SNOMEDCT_US_2016_03_01:267722005 SNOMEDCT_US_2016_03_01:43959009 UMLS_CUI:C0011876 Cataract - diabetic disease_ontology DOID:13328 diabetic cataract Cataract - diabetic SNOMEDCT_2005_07_31:267471001 ICD10CM:H46.3 ICD9CM:377.34 SNOMEDCT_US_2016_03_01:194053003 SNOMEDCT_US_2016_03_01:26125006 UMLS_CUI:C0155303 disease_ontology DOID:13329 toxic optic neuropathy A viral infectious disease that results_in infection in horses, mules, donkeys and zebras located_in lung, has_material_basis_in African horsesickness virus, which is transmitted_by biting midge, Culicoides imicola, transmitted_by Culex mosquito, transmitted_by Anopheles mosquito, transmitted_by Aedes mosquito, transmitted_by Hyalomma tick, and transmitted_by Rhipicephalus tick. The infection has_symptom tachypnea, has_symptom forced expiration, has_symptom profuse sweating, has_symptom spasmodic coughing, and has_symptom ecchymoses on the tongue. disease_ontology DOID:1333 african horse sickness true A viral infectious disease that results_in infection in horses, mules, donkeys and zebras located_in lung, has_material_basis_in African horsesickness virus, which is transmitted_by biting midge, Culicoides imicola, transmitted_by Culex mosquito, transmitted_by Anopheles mosquito, transmitted_by Aedes mosquito, transmitted_by Hyalomma tick, and transmitted_by Rhipicephalus tick. The infection has_symptom tachypnea, has_symptom forced expiration, has_symptom profuse sweating, has_symptom spasmodic coughing, and has_symptom ecchymoses on the tongue. url:http://www.cfsph.iastate.edu/Factsheets/pdfs/african_horse_sickness.pdf ICD10CM:K14.3 ICD9CM:529.3 SNOMEDCT_US_2016_03_01:196584007 SNOMEDCT_US_2016_03_01:6971002 UMLS_CUI:C0392494 Tongue papillary hypertrophy NOS (disorder) hypertrophy of tongue papillae (disorder) disease_ontology DOID:13333 hypertrophy of tongue papillae Tongue papillary hypertrophy NOS (disorder) SNOMEDCT_2005_07_31:196584007 hypertrophy of tongue papillae (disorder) SNOMEDCT_2005_07_31:6971002 A toxoplasmosis that involves inflammation of the liver caused by the protozoan Toxoplasma gondii, which results in jaundice. Hepatitis due to toxoplasmosis Toxoplasma hepatitis (disorder) disease_ontology DOID:13335 Toxoplasma hepatitis true A toxoplasmosis that involves inflammation of the liver caused by the protozoan Toxoplasma gondii, which results in jaundice. url:http://www.ncbi.nlm.nih.gov/pubmed/7111119 Hepatitis due to toxoplasmosis ICD9CM_2006:130.5 Toxoplasma hepatitis (disorder) SNOMEDCT_2005_07_31:187197006 A toxoplasmosis that involves a reactivated infection of the mother transmitted to the fetus during pregnancy. Spontaneous abortion and stillbirth may occur. ICD10CM:P37.1 MESH:D014125 NCI:C50503 SNOMEDCT_US_2016_03_01:157118007 SNOMEDCT_US_2016_03_01:206335001 SNOMEDCT_US_2016_03_01:268875000 SNOMEDCT_US_2016_03_01:73893000 UMLS_CUI:C0040560 Congenital toxoplasmosis Congenital toxoplasmosis (disorder) Toxoplasmosis - congen. disease_ontology DOID:13336 congenital toxoplasmosis A toxoplasmosis that involves a reactivated infection of the mother transmitted to the fetus during pregnancy. Spontaneous abortion and stillbirth may occur. url:http://www.merck.com/mmpe/sec14/ch186/ch186h.html?qt=toxoplasmosis&alt=sh url:http://www.who.int/bulletin/volumes/91/7/12-111732.pdf Congenital toxoplasmosis MTHICD9_2006:771.2 Congenital toxoplasmosis SNOMEDCT_2005_07_31:206335001 Congenital toxoplasmosis (disorder) SNOMEDCT_2005_07_31:73893000 Toxoplasmosis - congen. SNOMEDCT_2005_07_31:157118007 Toxoplasmosis - congen. SNOMEDCT_2005_07_31:268875000 A toxoplasmosis that involves infection of the heart with Toxoplasma gondii resulting in shortness of breath and constricting chest pain. Myocarditis due to acquired toxoplasmosis (disorder) Myocarditis due to toxoplasmosis Toxoplasma myocarditis (disorder) disease_ontology DOID:13338 Toxoplasma myocarditis true A toxoplasmosis that involves infection of the heart with Toxoplasma gondii resulting in shortness of breath and constricting chest pain. url:http://ukpmc.ac.uk/picrender.cgi?artid=1030799&blobtype=pdf Myocarditis due to acquired toxoplasmosis (disorder) SNOMEDCT_2005_07_31:76534005 Myocarditis due to toxoplasmosis ICD9CM_2006:130.3 Toxoplasma myocarditis (disorder) SNOMEDCT_2005_07_31:187195003 A dsRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Reoviridae viruses. Reoviridae disease disease due to Orthoreovirus disease due to Reoviridae (disorder) disease due to Reovirus (disorder) disease_ontology DOID:1334 Reoviridae infectious disease true A dsRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Reoviridae viruses. url:http://www.expasy.org/viralzone/all_by_species/104.html Reoviridae disease CSP2005:3100-1539 disease due to Orthoreovirus SNOMEDCT_2005_07_31:414016004 disease due to Reoviridae (disorder) SNOMEDCT_2005_07_31:105634001 disease due to Reovirus (disorder) SNOMEDCT_2005_07_31:28556001 ICD9CM:372.15 SNOMEDCT_US_2016_03_01:13816006 UMLS_CUI:C0155148 disease_ontology DOID:13341 parasitic conjunctivitis A toxoplasmosis that is caused by the protozoan Toxoplasma gondii which is recognized as pathogen in immunocompromised patients. Microscopy of the lung shows fibrinous exudate, and necrotic areas with intra and extracellular tachizoites along the interstitium and alveolar spaces. The symptoms are cough, shortness of breath, high fever and rales. Pneumonitis due to toxoplasmosis Toxoplasma pneumonitis (disorder) disease_ontology DOID:13342 Toxoplasma pneumonia true A toxoplasmosis that is caused by the protozoan Toxoplasma gondii which is recognized as pathogen in immunocompromised patients. Microscopy of the lung shows fibrinous exudate, and necrotic areas with intra and extracellular tachizoites along the interstitium and alveolar spaces. The symptoms are cough, shortness of breath, high fever and rales. url:http://books.google.com/books?id=L1t_iG3t_C0C&pg=PA460&lpg#v=onepage&q=&f=false url:http://www.ncbi.nlm.nih.gov/sites/entrez/8519364 Pneumonitis due to toxoplasmosis ICD9CM_2006:130.4 Toxoplasma pneumonitis (disorder) SNOMEDCT_2005_07_31:187196002 A toxoplasmosis that results from reactivation of congenital toxoplasmosis, but rarely with acquired infection. Focal necrotizing retinitis and a secondary granulomatous inflammation of the choroid occur. The symptoms include conjunctivitis, ocular pain, blurred vision, and blindness. DOID:13337 DOID:13340 Chorioretinitis due to toxoplasmosis Conjunctivitis due to acquired toxoplasmosis (disorder) Conjunctivitis due to toxoplasmosis Ocular toxoplasmosis (disorder) Toxoplasma chorioretinitis Toxoplasma conjunctivitis Toxoplasmosis chorioretinitis (disorder) ocular toxoplasmosis disease_ontology DOID:13343 ocular toxoplasmosis true A toxoplasmosis that results from reactivation of congenital toxoplasmosis, but rarely with acquired infection. Focal necrotizing retinitis and a secondary granulomatous inflammation of the choroid occur. The symptoms include conjunctivitis, ocular pain, blurred vision, and blindness. url:http://www.merck.com/mmpe/sec14/ch186/ch186h.html?qt=toxoplasmosis&alt=sh Chorioretinitis due to toxoplasmosis ICD9CM_2006:130.2 Conjunctivitis due to acquired toxoplasmosis (disorder) SNOMEDCT_2005_07_31:67372006 Conjunctivitis due to toxoplasmosis ICD9CM_2006:130.1 Ocular toxoplasmosis (disorder) SNOMEDCT_2005_07_31:416481006 Toxoplasmosis chorioretinitis (disorder) SNOMEDCT_2005_07_31:187194004 ocular toxoplasmosis CSP2005:2214-6054 ICD10CM:C32.3 ICD9CM:161.3 SNOMEDCT_US_2016_03_01:109370001 SNOMEDCT_US_2016_03_01:187847005 SNOMEDCT_US_2016_03_01:363431006 UMLS_CUI:C0153486 malignant neoplasm of laryngeal cartilage NOS (disorder) malignant neoplasm of laryngeal cartilages malignant tumor of laryngeal cartilage (disorder) disease_ontology DOID:13348 laryngeal cartilage cancer malignant neoplasm of laryngeal cartilage NOS (disorder) SNOMEDCT_2005_07_31:187847005 malignant neoplasm of laryngeal cartilages ICD9CM_2006:161.3 malignant tumor of laryngeal cartilage (disorder) SNOMEDCT_2005_07_31:363431006 A viral infectious disease that results_in infection in ruminants, has_material_basis_in Bluetongue virus, which is transmitted_by Culicoides imicola midge. The infection has_symptom fever, has_symptom excessive salivation, has_symptom swelling of the face and tongue, and has_symptom cyanosis of the tongue. disease_ontology Soremuzzle DOID:1335 bluetongue true A viral infectious disease that results_in infection in ruminants, has_material_basis_in Bluetongue virus, which is transmitted_by Culicoides imicola midge. The infection has_symptom fever, has_symptom excessive salivation, has_symptom swelling of the face and tongue, and has_symptom cyanosis of the tongue. url:http://en.wikipedia.org/wiki/Bluetongue_disease Gender identity disorder of childhood (disorder) disease_ontology DOID:13350 gender identity disorder in children true Gender identity disorder of childhood (disorder) SNOMEDCT_2005_07_31:5095008 ICD10CM:F65.4 ICD9CM:302.2 MESH:D010378 NCI:C94355 SNOMEDCT_US_2016_03_01:154907002 SNOMEDCT_US_2016_03_01:192516001 SNOMEDCT_US_2016_03_01:268763002 SNOMEDCT_US_2016_03_01:84002002 UMLS_CUI:C0030764 Paedophilia disease_ontology DOID:13351 pedophilia Paedophilia SNOMEDCT_2005_07_31:268763002 A gender identity disorder that is characterized by having a sexual orientation or an attraction that is at odds with one's idealized self-image, causing anxiety and a desire to change one's orientation or become more comfortable with one's sexual orientation. ICD9CM:302.0 SNOMEDCT_US_2016_03_01:52813007 UMLS_CUI:C0233880 disease_ontology DOID:13352 ego-dystonic sexual orientation A gender identity disorder that is characterized by having a sexual orientation or an attraction that is at odds with one's idealized self-image, causing anxiety and a desire to change one's orientation or become more comfortable with one's sexual orientation. url:http://en.wikipedia.org/wiki/Ego-dystonic_sexual_orientation ICD10CM:H16.32 ICD9CM:370.52 SNOMEDCT_US_2016_03_01:17157001 SNOMEDCT_US_2016_03_01:193785001 SNOMEDCT_US_2016_03_01:267635007 UMLS_CUI:C0155089 disease_ontology DOID:13353 diffuse interstitial keratitis ICD9CM:374.11 SNOMEDCT_US_2016_03_01:71659009 UMLS_CUI:C0155193 Involutional ectropion disease_ontology DOID:13356 senile ectropion Involutional ectropion SNOMEDCT_2005_07_31:71659009 ICD10CM:M22.4 ICD9CM:717.7 MESH:D046789 OMIM:168900 SNOMEDCT_US_2016_03_01:156521009 SNOMEDCT_US_2016_03_01:36071006 UMLS_CUI:C0008475 Chondromalacia of patella Chondromalacia of patella (disorder) Chondromalacia patellae softening of articular cartilage of patella disease_ontology DOID:13357 OMIM mapping confirmed by DO. [SN]. chondromalacia patellae Chondromalacia of patella ICD9CM_2006:717.7 Chondromalacia of patella (disorder) SNOMEDCT_2005_07_31:36071006 Chondromalacia patellae SNOMEDCT_2005_07_31:156521009 softening of articular cartilage of patella MTHICD9_2006:717.7 A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules. DOID:14696 ICD10CM:Q79.6 ICD9CM:756.83 MESH:D004535 NCI:C34568 OMIM:225400 SNOMEDCT_US_2016_03_01:157008000 SNOMEDCT_US_2016_03_01:2300005 SNOMEDCT_US_2016_03_01:238848002 SNOMEDCT_US_2016_03_01:268352002 SNOMEDCT_US_2016_03_01:398114001 UMLS_CUI:C0013720 Cutis hyperelastica elastic skin disease_ontology DOID:13359 OMIM mapping confirmed by DO. [LS]. OMIM mapping by NeuroDevNet. [LS]. Ehlers-Danlos syndrome A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules. url:http://emedicine.medscape.com/article/1114004-overview url:http://en.wikipedia.org/wiki/Ehlers%E2%80%93Danlos_syndrome url:http://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome url:http://www.ednf.org/ url:http://www.mayoclinic.com/health/ehlers-danlos-syndrome/DS00706 url:http://www.medicinenet.com/ehlers-danlos_syndrome/article.htm url:http://www.merriam-webster.com/medlineplus/ehlers-Danlos url:http://www.ncbi.nlm.nih.gov/pubmed/23711271 url:http://www.nlm.nih.gov/medlineplus/ehlersdanlossyndrome.html Cutis hyperelastica SNOMEDCT_2005_07_31:238848002 elastic skin CSP2005:1849-3115 A viral infectious disease that results_in inflammation located_in stomach and located_in intestine of sheep and goats, has_material_basis_in Nairobi sheep disease virus, which is transmitted_by Rhipicephalus appendiculatus ticks. The infection has_symptom fever, has_symptom leukopenia, has_symptom rapid respiration, has_symptom anorexia, has_symptom profound depression, has_symptom diarrhea, and has_symptom dehydration. Nairobi sheep virus disease (disorder) Nairobi sheep virus gastroenteritis disease_ontology DOID:1336 Nairobi sheep disease true A viral infectious disease that results_in inflammation located_in stomach and located_in intestine of sheep and goats, has_material_basis_in Nairobi sheep disease virus, which is transmitted_by Rhipicephalus appendiculatus ticks. The infection has_symptom fever, has_symptom leukopenia, has_symptom rapid respiration, has_symptom anorexia, has_symptom profound depression, has_symptom diarrhea, and has_symptom dehydration. url:http://www.cfsph.iastate.edu/Factsheets/pdfs/nairobi_sheep_disease.pdf Nairobi sheep virus disease (disorder) SNOMEDCT_2005_07_31:24069003 Nephrotic syndrome with Lesion of Proliferative Glomerulonephritis disease_ontology DOID:13361 nephrotic syndrome with lesion of proliferative glomerulonephritis true Nephrotic syndrome with Lesion of Proliferative Glomerulonephritis NCI2004_11_17:C35214 MESH:D021081 UMLS_CUI:C0236811 disease_ontology obsolete chronobiology disease true A learning disability involing difficulty reading resulting primarily from neurological factors which affect any part of the reading process. ICD9CM:315.09 UMLS_CUI:C0154631 disease_ontology DOID:13365 reading disorder A learning disability involing difficulty reading resulting primarily from neurological factors which affect any part of the reading process. url:http://en.wikipedia.org/wiki/Learning_disabilities#Writing_disorder_.28ICD-10_and_DSM-IV_codes_F81.1.2F315.2.29 url:http://en.wikipedia.org/wiki/Reading_disability A movement disease that is of unknown etiology characterized by progressive rigidity. ICD10CM:G25.82 ICD9CM:333.91 MESH:D016750 NCI:C85170 OMIM:184850 SNOMEDCT_US_2016_03_01:5217008 UMLS_CUI:C0085292 Stiff-man syndrome Stiff-man syndrome (disorder) stiff man syndrome disease_ontology DOID:13366 Stiff-Person syndrome A movement disease that is of unknown etiology characterized by progressive rigidity. ls:IEDB url:http://en.wikipedia.org/wiki/Stiff_person_syndrome Stiff-man syndrome ICD9CM_2006:333.91 Stiff-man syndrome (disorder) SNOMEDCT_2005_07_31:5217008 stiff man syndrome CSP2005:2057-3403 A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton mentagrophytes and results_in_formation_of subcutaneous abscesses. SNOMEDCT_US_2016_03_01:186995009 SNOMEDCT_US_2016_03_01:214600002 SNOMEDCT_US_2016_03_01:58950002 UMLS_CUI:C1279621 Deep seated dermatophytosis Granuloma trichophyticum Majocchi's granuloma disease_ontology DOID:13368 tinea profunda A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton mentagrophytes and results_in_formation_of subcutaneous abscesses. url:http://www.doctorfungus.org/mycoses/human/other/tineacorporis_cruris_pedis.htm Deep seated dermatophytosis ICD9CM_2006:110.6 Granuloma trichophyticum MTHICD9_2006:110.6 Majocchi's granuloma SNOMEDCT_2005_07_31:214600002 A dermatophytosis that results_in fungal skin infection located_in hand, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, has_symptom burning, has_symptom cracking, and has_symptom scaling. ICD10CM:B35.2 ICD9CM:110.2 SNOMEDCT_US_2016_03_01:48971001 UMLS_CUI:C0153246 Dermatophytosis of hand Tinea manus disease_ontology DOID:13369 tinea manuum A dermatophytosis that results_in fungal skin infection located_in hand, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, has_symptom burning, has_symptom cracking, and has_symptom scaling. url:http://en.wikipedia.org/wiki/Tinea_manuum Dermatophytosis of hand ICD9CM_2006:110.2 Tinea manus SNOMEDCT_2005_07_31:48971001 A typhus that has_material_basis_in Orientia tsutsugamushi, which is transmitted_by trombiculid mites (Leptotrombidium deliense). The infection has_symptom fever, has_symptom headache, has_symptom muscle pain, has_symptom cough, has_symptom maculopapular rash, has_symptom eschar, has_symptom splenomegaly and has_symptom lymphadenopathy. ICD10CM:A75.3 ICD9CM:081.2 MESH:D012612 SNOMEDCT_US_2016_03_01:186768005 SNOMEDCT_US_2016_03_01:240620004 SNOMEDCT_US_2016_03_01:240621000 SNOMEDCT_US_2016_03_01:240622007 SNOMEDCT_US_2016_03_01:271425001 SNOMEDCT_US_2016_03_01:73911003 UMLS_CUI:C0036472 Japanese river fever Kedani fever Scrub mite-borne typhus Tsutsugamushi Tsutsugamushi disease disease_ontology Chigger-borne rickettsiosis Chigger-borne typhus Mite-borne rickettsiosis Mite-borne typhus Scrub (mite-borne) typhus Tropical typhus Tsutsugamushi fever Typhus fever due to Rickettsia tsutsugamushi DOID:13371 scrub typhus A typhus that has_material_basis_in Orientia tsutsugamushi, which is transmitted_by trombiculid mites (Leptotrombidium deliense). The infection has_symptom fever, has_symptom headache, has_symptom muscle pain, has_symptom cough, has_symptom maculopapular rash, has_symptom eschar, has_symptom splenomegaly and has_symptom lymphadenopathy. url:http://en.wikipedia.org/wiki/Scrub_typhus Japanese river fever SNOMEDCT_2005_07_31:240620004 Kedani fever SNOMEDCT_2005_07_31:240621000 Scrub mite-borne typhus SNOMEDCT_2005_07_31:186768005 Tsutsugamushi MTHICD9_2006:081.2 Tsutsugamushi disease SNOMEDCT_2005_07_31:240622007 A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells. ICD10CM:E88.01 ICD9CM:273.4 MESH:D019896 NCI:C84397 OMIM:613490 SNOMEDCT_US_2016_03_01:154771007 SNOMEDCT_US_2016_03_01:30188007 UMLS_CUI:C0221757 AAT deficiency disease_ontology DOID:13372 OMIM mapping confirmed by DO. [SN]. alpha 1-antitrypsin deficiency A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells. url:http://en.wikipedia.org/wiki/Alpha_1-antitrypsin_deficiency url:http://www.nlm.nih.gov/medlineplus/ency/article/000120.htm AAT deficiency MTHICD9_2006:273.4 .A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene. ICD10CM:M61.1 ICD10CM:M61.10 ICD9CM:728.11 MESH:D009221 NCI:C3040 OMIM:135100 SNOMEDCT_US_2016_03_01:205527009 SNOMEDCT_US_2016_03_01:240121004 SNOMEDCT_US_2016_03_01:82725007 UMLS_CUI:C0016037 Stone Man Syndrome myositis ossificans progressiva progressive myositis ossificans progressive ossifying myositis disease_ontology DOID:13374 OMIM mapping confirmed by DO. [SN]. fibrodysplasia ossificans progressiva .A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene. url:http://emedicine.medscape.com/article/1112501-overview url:http://en.wikipedia.org/wiki/Fibrodysplasia_ossificans_progressiva url:http://ghr.nlm.nih.gov/condition/fibrodysplasia-ossificans-progressiva url:http://omim.org/entry/135100 url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2424023/ url:http://www.ucsfbenioffchildrens.org/conditions/fibrodysplasia_ossificans_progressiva/ myositis ossificans progressiva SNOMEDCT_2005_07_31:205527009 progressive myositis ossificans ICD9CM_2006:728.11 progressive ossifying myositis CSP2005:1982-9828 ICD9CM:446.5 MESH:D013700 NCI:C35065 OMIM:187360 SNOMEDCT_US_2016_03_01:155442004 SNOMEDCT_US_2016_03_01:195354005 SNOMEDCT_US_2016_03_01:195355006 SNOMEDCT_US_2016_03_01:195356007 SNOMEDCT_US_2016_03_01:195357003 SNOMEDCT_US_2016_03_01:400130008 SNOMEDCT_US_2016_03_01:414341000 SNOMEDCT_US_2016_03_01:87511001 UMLS_CUI:C0039483 Giant cell Arteritis Giant cell arteritis Giant cell arteritis (disorder) Giant cell arteritis NOS (disorder) Horton's disease Temporal arteritis (disorder) giant cell arteritis disease_ontology DOID:13375 OMIM mapping confirmed by DO. [LS]. temporal arteritis Giant cell Arteritis NCI2004_11_17:C35065 Giant cell arteritis ICD9CM_2006:446.5 Giant cell arteritis SNOMEDCT_2005_07_31:195354005 Giant cell arteritis SNOMEDCT_2005_07_31:195355006 Giant cell arteritis SNOMEDCT_2005_07_31:195356007 Giant cell arteritis (disorder) SNOMEDCT_2005_07_31:155442004 Giant cell arteritis (disorder) SNOMEDCT_2005_07_31:414341000 Giant cell arteritis (disorder) SNOMEDCT_2005_07_31:87511001 Giant cell arteritis NOS (disorder) SNOMEDCT_2005_07_31:195357003 Horton's disease MTHICD9_2006:446.5 Temporal arteritis (disorder) SNOMEDCT_2005_07_31:400130008 giant cell arteritis CSP2005:0617-5624 Congenital aortic valve insufficiency (disorder) Congenital aortic valve insufficiency NOS (disorder) Congenital aortic valve insufficiency, unspecified (disorder) Congenital bicuspid aortic valve insufficiency Congenital insufficiency of aortic valve Congenital insufficiency of aortic valve (disorder) disease_ontology DOID:13376 congenital aortic insufficiency true Congenital aortic valve insufficiency (disorder) SNOMEDCT_2005_07_31:204358001 Congenital aortic valve insufficiency NOS (disorder) SNOMEDCT_2005_07_31:204360004 Congenital aortic valve insufficiency, unspecified (disorder) SNOMEDCT_2005_07_31:204359009 Congenital bicuspid aortic valve insufficiency MTHICD9_2006:746.4 Congenital insufficiency of aortic valve ICD9CM_2006:746.4 Congenital insufficiency of aortic valve (disorder) SNOMEDCT_2005_07_31:28656008 A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels located_in body, has_symptom fever, has_symptom congestion of ocular conjunctivae, has_symptom reddening of lips, has_symptom reddening of oral cavity, has_symptom protuberance of tongue papillae and has_symptom edema of extremities. EFO:0004246 ICD10CM:M30.3 ICD9CM:446.1 MESH:D009080 NCI:C34825 OMIM:611775 SNOMEDCT_US_2016_03_01:155444003 SNOMEDCT_US_2016_03_01:195348009 SNOMEDCT_US_2016_03_01:195349001 SNOMEDCT_US_2016_03_01:75053002 UMLS_CUI:C0026691 Kawasaki's disease MLNS acute febrile MCLS acute febrile mucocutaneous lymph node syndrome [MCLS] mucocutaneous lymph node syndrome disease_ontology DOID:13378 OMIM mapping confirmed by DO. [SN]. Kawasaki disease A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels located_in body, has_symptom fever, has_symptom congestion of ocular conjunctivae, has_symptom reddening of lips, has_symptom reddening of oral cavity, has_symptom protuberance of tongue papillae and has_symptom edema of extremities. url:http://en.wikipedia.org/wiki/Kawasaki_disease Kawasaki's disease SNOMEDCT_2005_07_31:195348009 MLNS CSP2005:0571-6720 acute febrile MCLS MTHICD9_2006:446.1 acute febrile mucocutaneous lymph node syndrome [MCLS] ICD9CM_2006:446.1 A congenital hemolytic anemia characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood. ICD10CM:D64.4 MESH:D000742 NCI:C84646 OMIM:105600 OMIM:224100 OMIM:224120 OMIM:613673 OMIM:615631 ORDO:85 SNOMEDCT_US_2016_03_01:191272005 SNOMEDCT_US_2016_03_01:52951008 UMLS_CUI:C0002876 congenital dyshaematopoietic anaemia disease_ontology DOID:1338 Xref MGI. OMIM mapping confirmed by DO. [SN]. congenital dyserythropoietic anemia A congenital hemolytic anemia characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood. url:http://en.wikipedia.org/wiki/Congenital_dyserythropoietic_anemia url:http://www.ncbi.nlm.nih.gov/books/NBK5313/ congenital dyshaematopoietic anaemia SNOMEDCT_2005_07_31:191272005 disease_ontology DOID:13380 acute pyelonephritis with lesion of renal medullary necrosis true ICD10CM:D51.0 ICD9CM:281.0 MESH:D000752 NCI:C2871 OMIM:170900 SNOMEDCT_US_2016_03_01:154789008 SNOMEDCT_US_2016_03_01:191139001 SNOMEDCT_US_2016_03_01:84027009 UMLS_CUI:C0002892 ANEMIA PERNICIOUS Addison's anaemia Biermer's anemia disease_ontology DOID:13381 OMIM mapping confirmed by DO. [SN]. pernicious anemia ANEMIA PERNICIOUS MTH:NOCODE Addison's anaemia SNOMEDCT_2005_07_31:191139001 Biermer's anemia MTHICD9_2006:281.0 A macrocytic anemia that is characterized by inhibition of DNA synthesis during red blood cell production. ICD10CM:D53.1 MESH:D000749 NCI:C34382 OMIM:261100 OMIM:613839 SNOMEDCT_US_2016_03_01:154788000 SNOMEDCT_US_2016_03_01:154792007 SNOMEDCT_US_2016_03_01:191138009 SNOMEDCT_US_2016_03_01:191165002 SNOMEDCT_US_2016_03_01:191166001 SNOMEDCT_US_2016_03_01:234357005 SNOMEDCT_US_2016_03_01:267554004 SNOMEDCT_US_2016_03_01:53165003 UMLS_CUI:C0002888 Grasbeck-Imerslund syndrome Imerslund-Grasbeck syndrome MGA1 Norwegian type RH-MGA1 recessive hereditary megaloblastic anemia 1 disease_ontology IGS DOID:13382 Xref MGI. megaloblastic anemia A macrocytic anemia that is characterized by inhibition of DNA synthesis during red blood cell production. url:http://en.wikipedia.org/wiki/Megaloblastic_anemia An anthrax disease that results_in infection located_in mucosa of gastrointestinal tract, has_material_basis_in Bacillus anthracis, which is transmitted_by ingestion of anthrax-infected meat. The infection has_symptom lesions, has_symptom vomiting of blood, has_symptom severe diarrhea, has_symptom loss of appetite. ICD10CM:A22.2 ICD9CM:022.2 MESH:C571911 SNOMEDCT_US_2016_03_01:111798006 SNOMEDCT_US_2016_03_01:186302005 UMLS_CUI:C0152945 disease_ontology DOID:13386 gastrointestinal anthrax An anthrax disease that results_in infection located_in mucosa of gastrointestinal tract, has_material_basis_in Bacillus anthracis, which is transmitted_by ingestion of anthrax-infected meat. The infection has_symptom lesions, has_symptom vomiting of blood, has_symptom severe diarrhea, has_symptom loss of appetite. url:http://emedicine.medscape.com/article/212127-overview#a0104 url:http://en.wikipedia.org/wiki/Cutaneous_anthrax#Cutaneous url:http://www.springerlink.com/content/g3575hwr232l4411/ malignant neoplasm of upper limb malignant neoplasm of upper limb NOS (disorder) malignant neoplasm of upper limb, NOS malignant tumor of upper limb (disorder) disease_ontology DOID:13387 upper limb cancer true malignant neoplasm of upper limb ICD9CM_2006:195.4 malignant neoplasm of upper limb NOS (disorder) SNOMEDCT_2005_07_31:188371009 malignant neoplasm of upper limb, NOS SNOMEDCT_2005_07_31:94116007 malignant tumor of upper limb (disorder) SNOMEDCT_2005_07_31:363503004 NCI:C9363 UMLS_CUI:C1334356 Labia Majora cancer disease_ontology carcinoma of labia majora DOID:13389 labia majora carcinoma Labia Majora cancer NCI2004_11_17:C9363 A congenital hypoplastic anemia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis insufficient levels of red blood cells due to bone marrow dysfunction. ICD10CM:D61.01 MESH:D029503 NCI:C61236 OMIM:105650 OMIM:606129 OMIM:610629 OMIM:612527 OMIM:612528 OMIM:612561 OMIM:612562 OMIM:612563 OMIM:613308 OMIM:613309 OMIM:614900 OMIM:615550 OMIM:615909 ORDO:124 SNOMEDCT_US_2016_03_01:188588001 SNOMEDCT_US_2016_03_01:191235004 SNOMEDCT_US_2016_03_01:191239005 SNOMEDCT_US_2016_03_01:234371002 SNOMEDCT_US_2016_03_01:88854002 UMLS_CUI:C1260899 Blackfan - Diamond syndrome chronic constitutional pure red cell anaemia disease_ontology DOID:1339 Xref MGI. OMIM mapping confirmed by DO. [SN]. Diamond-Blackfan anemia A congenital hypoplastic anemia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis insufficient levels of red blood cells due to bone marrow dysfunction. url:http://en.wikipedia.org/wiki/Diamond%E2%80%93Blackfan_anemia url:http://ghr.nlm.nih.gov/condition/diamond-blackfan-anemia url:http://www.cdc.gov/ncbddd/dba/ url:http://www.omim.org/entry/105650 Blackfan - Diamond syndrome SNOMEDCT_2005_07_31:191239005 chronic constitutional pure red cell anaemia SNOMEDCT_2005_07_31:188588001 disease_ontology DOID:13397 atypical manic disorder true disease_ontology DOID:13398 open angle with borderline glaucoma findings true A blindness that is characterized by the inability or decreased ability to see color, or perceive color differences, under normal lighting conditions. ICD10CM:H53.5 ICD10CM:H53.50 ICD9CM:368.5 MESH:D003117 NCI:C3891 SNOMEDCT_US_2016_03_01:155143000 SNOMEDCT_US_2016_03_01:193683001 SNOMEDCT_US_2016_03_01:193685008 SNOMEDCT_US_2016_03_01:53481002 UMLS_CUI:C0242225 BLINDNESS COLOR Colour blindness Colour vision deficiency disease_ontology DOID:13399 color blindness A blindness that is characterized by the inability or decreased ability to see color, or perceive color differences, under normal lighting conditions. url:http://en.wikipedia.org/wiki/Color_blindness BLINDNESS COLOR MTH:NOCODE Colour blindness SNOMEDCT_2005_07_31:155143000 Colour vision deficiency SNOMEDCT_2005_07_31:53481002 NCI:C40250 UMLS_CUI:C1519921 disease_ontology DOID:134 vaginal glandular tumor MESH:D012010 NCI:C34974 SNOMEDCT_US_2016_03_01:191252000 SNOMEDCT_US_2016_03_01:191253005 SNOMEDCT_US_2016_03_01:50715003 UMLS_CUI:C0034902 Pure Red cell Aplasia Pure red cell aplasia Pure red cell aplasia (disorder) Red cell hypoplasia primary red cell aplasia disease_ontology DOID:1340 pure red-cell aplasia Pure Red cell Aplasia NCI2004_11_17:C34974 Pure red cell aplasia MTHICD9_2006:284.8 Pure red cell aplasia SNOMEDCT_2005_07_31:191252000 Pure red cell aplasia (disorder) SNOMEDCT_2005_07_31:50715003 Red cell hypoplasia SNOMEDCT_2005_07_31:191253005 primary red cell aplasia MTHICD9_2006:284.0 MESH:D000793 OMIM:607140 UMLS_CUI:C0002982 disease_ontology DOID:13401 OMIM mapping confirmed by DO. [SN]. angioid streaks ICD10CM:D86.3 NCI:C34996 SNOMEDCT_US_2016_03_01:187234008 SNOMEDCT_US_2016_03_01:55941000 UMLS_CUI:C0036203 Cutaneous Sarcoidosis Cutaneous sarcoid Cutaneous sarcoidosis (disorder) disease_ontology DOID:13402 skin sarcoidosis Cutaneous Sarcoidosis NCI2004_11_17:C34996 Cutaneous sarcoid SNOMEDCT_2005_07_31:187234008 Cutaneous sarcoidosis (disorder) SNOMEDCT_2005_07_31:55941000 NCI:C35441 SNOMEDCT_US_2016_03_01:111936002 UMLS_CUI:C0398676 Cerebral Sarcoidosis Cerebral sarcoidosis (disorder) disease_ontology DOID:13403 cerebral sarcoidosis Cerebral Sarcoidosis NCI2004_11_17:C35441 Cerebral sarcoidosis (disorder) SNOMEDCT_2005_07_31:111936002 ICD10CM:D86.89 MESH:D014608 SNOMEDCT_US_2016_03_01:31541009 SNOMEDCT_US_2016_03_01:4416007 UMLS_CUI:C0042171 Heerfordt's syndrome (disorder) Uveoparotid fever disease_ontology DOID:13404 uveoparotid fever Heerfordt's syndrome (disorder) SNOMEDCT_2005_07_31:4416007 Uveoparotid fever MTHICD9_2006:135 Uveoparotid fever SNOMEDCT_2005_07_31:31541009 NCI:C35589 SNOMEDCT_US_2016_03_01:75403004 UMLS_CUI:C0392077 Cardiac sarcoidosis (disorder) disease_ontology DOID:13405 cardiac sarcoidosis Cardiac sarcoidosis (disorder) SNOMEDCT_2005_07_31:75403004 ICD10CM:D86.0 MESH:D017565 NCI:C34997 SNOMEDCT_US_2016_03_01:187230004 SNOMEDCT_US_2016_03_01:24369008 UMLS_CUI:C0036205 lung Sarcoidosis disease_ontology DOID:13406 pulmonary sarcoidosis lung Sarcoidosis NCI2004_11_17:C34997 NCI:C35807 UMLS_CUI:C1334067 disease_ontology DOID:13407 hypercalcemic sarcoidosis metastatic tumor to the Pleura secondary malignant neoplasm of pleura secondary malignant neoplasm of pleura (disorder) disease_ontology DOID:13408 metastasis to pleura true metastatic tumor to the Pleura NCI2004_11_17:C3579 secondary malignant neoplasm of pleura ICD9CM_2006:197.2 secondary malignant neoplasm of pleura (disorder) SNOMEDCT_2005_07_31:94493005 ICD10CM:K83.2 ICD9CM:576.3 NCI:C78528 SNOMEDCT_US_2016_03_01:37439003 UMLS_CUI:C0156218 Perforation of bile duct (disorder) disease_ontology DOID:13409 perforation of bile duct Perforation of bile duct (disorder) SNOMEDCT_2005_07_31:37439003 Congenital anemia Congenital anemia (disorder) disease_ontology DOID:1341 congenital anemia true Congenital anemia ICD9CM_2006:776.5 Congenital anemia (disorder) SNOMEDCT_2005_07_31:63565007 A brain disease that is characterized by loss of brain function, the occurrence of confusion, altered level of consciousness, and coma that results when the liver is unable to remove toxins from the blood. ICD10CM:K72 ICD9CM:572.2 MESH:D006501 NCI:C79596 SNOMEDCT_US_2016_03_01:123049003 SNOMEDCT_US_2016_03_01:13920009 SNOMEDCT_US_2016_03_01:197332007 SNOMEDCT_US_2016_03_01:449902003 UMLS_CUI:C0019151 Portal-systemic encephalopathy disease_ontology DOID:13413 hepatic encephalopathy A brain disease that is characterized by loss of brain function, the occurrence of confusion, altered level of consciousness, and coma that results when the liver is unable to remove toxins from the blood. url:https://docs.google.com/spreadsheets/d/1k1O_aBn3qpABVB315sNZtqviqqNFC6iY7xHWiTVOuhM/edit#gid=0 url:https://en.wikipedia.org/wiki/Hepatic_encephalopathy Portal-systemic encephalopathy MTHICD9_2006:572.2 Diabetes mellitus juvenile type, not stated as uncontrolled, with peripheral circulatory disorder Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with peripheral circulatory disorder disease_ontology DOID:13416 diabetes mellitus insulin dependent type, not stated as uncontrolled, with peripheral circulatory disorder true Diabetes mellitus juvenile type, not stated as uncontrolled, with peripheral circulatory disorder MTHICD9_2006:250.71 Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with peripheral circulatory disorder ICD9CM_2006:250.71 An agnosia that is a loss of the ability to recognize text. DOID:4427 ICD9CM:315.01 MESH:D004410 MESH:D004411 SNOMEDCT_US_2016_03_01:158316004 SNOMEDCT_US_2016_03_01:206985003 SNOMEDCT_US_2016_03_01:9236007 UMLS_CUI:C0002018 UMLS_CUI:C0013388 Aphemesthaesia acquired dyslexia disease_ontology DOID:13417 alexia An agnosia that is a loss of the ability to recognize text. url:http://en.wikipedia.org/wiki/Agnosia url:http://en.wikipedia.org/wiki/Alexia_%28disorder%29 Aphemesthaesia SNOMEDCT_2005_07_31:9236007 ICD9CM:564.81 MESH:D055496 SNOMEDCT_US_2016_03_01:425671009 UMLS_CUI:C0695242 disease_ontology DOID:13419 neurogenic bowel DOID:13639 ICD10CM:D61.0 ICD10CM:D61.01 ICD9CM:284.0 MESH:D029502 SNOMEDCT_US_2016_03_01:154808006 SNOMEDCT_US_2016_03_01:188588001 SNOMEDCT_US_2016_03_01:191235004 SNOMEDCT_US_2016_03_01:191236003 SNOMEDCT_US_2016_03_01:191242004 SNOMEDCT_US_2016_03_01:267523003 SNOMEDCT_US_2016_03_01:28975000 SNOMEDCT_US_2016_03_01:88854002 UMLS_CUI:C0702159 UMLS_CUI:C0949116 congenital aplastic anemia disease_ontology Constitutional aplastic anaemia DOID:1342 congenital hypoplastic anemia congenital aplastic anemia CSP2005:0427-0659 Constitutional aplastic anaemia SNOMEDCT_2005_07_31:154808006 DOID:2863 ICD10CM:N34.2 ICD9CM:597.80 MESH:D014526 NCI:C26904 SNOMEDCT_US_2016_03_01:154388003 SNOMEDCT_US_2016_03_01:197905005 SNOMEDCT_US_2016_03_01:31822004 UMLS_CUI:C0041976 UMLS_CUI:C0311389 Non-Gonococcal Urethritis Nongonococcal urethritis (disorder) disease_ontology DOID:1343 urethritis Non-Gonococcal Urethritis NCI2004_11_17:C27079 Nongonococcal urethritis (disorder) SNOMEDCT_2005_07_31:84619001 A primary bacterial infectious disease that results_in infection located_in mucosa of mouth, located_in skin or located_in bone, has_material_basis_in Treponema pallidum subsp endemicum, which is transmitted_by contact or transmitted_by sharing of domestic utensils. The infection has_symptom moist patches in the mouth, has_symptom lumps in long bones, tissues around the mouth, nose, and roof of the mouth. These lumps destroy tissue, causing bones to be deformed and disfiguring the face. MESH:D014211 SNOMEDCT_US_2016_03_01:186978001 SNOMEDCT_US_2016_03_01:240686008 UMLS_CUI:C0004945 Njovera Nonvenereal endemic syphilis disease_ontology DOID:13431 bejel A primary bacterial infectious disease that results_in infection located_in mucosa of mouth, located_in skin or located_in bone, has_material_basis_in Treponema pallidum subsp endemicum, which is transmitted_by contact or transmitted_by sharing of domestic utensils. The infection has_symptom moist patches in the mouth, has_symptom lumps in long bones, tissues around the mouth, nose, and roof of the mouth. These lumps destroy tissue, causing bones to be deformed and disfiguring the face. url:http://en.wikipedia.org/wiki/Bejel url:http://www.merckmanuals.com/home/sec17/ch190/ch190d.html Njovera MTHICD9_2006:104.0 Nonvenereal endemic syphilis ICD9CM_2006:104.0 A primary bacterial infectious disease that results_in septicemic infection, has_material_basis_in Burkholderia mallei, which is transmitted_by contact with tissues or body fluids of infected animals, or through mucosal surfaces such as the eyes and nose. The infection has_symptom fever, has_symptom chills, has_symptom sweating, has_symptom muscle aches, has_symptom chest pain, has_symptom muscle tightness, has_symptom headache, has_symptom mucopurulent nasal discharge, and has_symptom nodular lesions in the lungs. ICD10CM:A24.0 ICD9CM:024 MESH:D005896 NCI:C34638 SNOMEDCT_US_2016_03_01:35322000 SNOMEDCT_US_2016_03_01:4639008 UMLS_CUI:C0017589 Farcy pipes Infection due to Pseudomonas mallei disease_ontology DOID:13444 glanders A primary bacterial infectious disease that results_in septicemic infection, has_material_basis_in Burkholderia mallei, which is transmitted_by contact with tissues or body fluids of infected animals, or through mucosal surfaces such as the eyes and nose. The infection has_symptom fever, has_symptom chills, has_symptom sweating, has_symptom muscle aches, has_symptom chest pain, has_symptom muscle tightness, has_symptom headache, has_symptom mucopurulent nasal discharge, and has_symptom nodular lesions in the lungs. url:http://www.cdc.gov/nczved/divisions/dfbmd/diseases/glanders/ Farcy pipes SNOMEDCT_2005_07_31:35322000 Infection due to Pseudomonas mallei MTHICD9_2006:024 ICD10CM:I65.1 ICD9CM:433.0 SNOMEDCT_US_2016_03_01:155396001 SNOMEDCT_US_2016_03_01:195180004 SNOMEDCT_US_2016_03_01:78658006 UMLS_CUI:C0265098 disease_ontology DOID:13446 basilar artery occlusion ICD10CM:H18.02 ICD9CM:371.16 SNOMEDCT_US_2016_03_01:193809002 SNOMEDCT_US_2016_03_01:21328003 UMLS_CUI:C0155108 Argentous corneal deposits Argyrosis of cornea disease_ontology DOID:13447 corneal argyrosis Argentous corneal deposits ICD9CM_2006:371.16 Argyrosis of cornea SNOMEDCT_2005_07_31:193809002 ICD10CM:H18.05 ICD9CM:371.13 SNOMEDCT_US_2016_03_01:11293004 SNOMEDCT_US_2016_03_01:193807000 SNOMEDCT_US_2016_03_01:267639001 UMLS_CUI:C0155106 Posterior corneal pigmentations disease_ontology DOID:13448 posterior corneal pigmentation Posterior corneal pigmentations ICD9CM_2006:371.13 A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom conjunctivitis, has_symptom arthritis, has_symptom chest pain and results_in_formation_of skin nodules. DOID:13981 ICD10CM:B38 ICD10CM:B38.9 ICD9CM:114 ICD9CM:114.9 MESH:D003047 NCI:C84642 SNOMEDCT_US_2016_03_01:154408001 SNOMEDCT_US_2016_03_01:187025009 SNOMEDCT_US_2016_03_01:187035003 SNOMEDCT_US_2016_03_01:187481007 SNOMEDCT_US_2016_03_01:266218008 SNOMEDCT_US_2016_03_01:442543009 SNOMEDCT_US_2016_03_01:60826002 UMLS_CUI:C0009186 primary extrapulmonary coccidioidomycosis primary extrapulmonary coccidioidomycosis (disorder) disease_ontology DOID:13450 coccidioidomycosis A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom conjunctivitis, has_symptom arthritis, has_symptom chest pain and results_in_formation_of skin nodules. url:http://www.merck.com/mmhe/sec17/ch197/ch197e.html primary extrapulmonary coccidioidomycosis (disorder) SNOMEDCT_2005_07_31:23247008 ICD10CM:H15.0 ICD10CM:H15.00 ICD9CM:379.00 MESH:D015423 NCI:C119046 SNOMEDCT_US_2016_03_01:155201000 SNOMEDCT_US_2016_03_01:194139000 SNOMEDCT_US_2016_03_01:194140003 SNOMEDCT_US_2016_03_01:78370002 UMLS_CUI:C0036416 disease_ontology DOID:13452 scleritis ICD10CM:A54.49 ICD9CM:098.52 SNOMEDCT_US_2016_03_01:186928003 SNOMEDCT_US_2016_03_01:46699001 UMLS_CUI:C0153218 Gonococcal bursitis (disorder) disease_ontology DOID:13453 gonococcal bursitis Gonococcal bursitis (disorder) SNOMEDCT_2005_07_31:46699001 ICD9CM:098.51 SNOMEDCT_US_2016_03_01:186927008 SNOMEDCT_US_2016_03_01:266138002 UMLS_CUI:C0343714 Gonococcal synovitis &/or tenosynovitis Gonococcal synovitis and tenosynovitis Gonococcal synovitis or tenosynovitis (disorder) disease_ontology DOID:13454 gonococcal synovitis Gonococcal synovitis &/or tenosynovitis SNOMEDCT_2005_07_31:186927008 Gonococcal synovitis and tenosynovitis ICD9CM_2006:098.51 Gonococcal synovitis or tenosynovitis (disorder) SNOMEDCT_2005_07_31:266138002 A secondary syphilis that involves infection of the liver by the spirochete Treponema pallidum, which results in the formation of hepatic lesions. DOID:13458 Hepatitis in secondary syphilis (disorder) Syphilis of liver (disorder) secondary syphilis of liver secondary syphilis of liver (disorder) secondary syphilitic hepatitis disease_ontology DOID:13459 secondary syphilitic hepatitis true A secondary syphilis that involves infection of the liver by the spirochete Treponema pallidum, which results in the formation of hepatic lesions. url:http://www.merck.com/mmpe/sec14/ch194/ch194i.html?qt=syphilis&alt=sh Hepatitis in secondary syphilis (disorder) SNOMEDCT_2005_07_31:197348008 Syphilis of liver (disorder) SNOMEDCT_2005_07_31:86028001 secondary syphilis of liver (disorder) SNOMEDCT_2005_07_31:80770009 secondary syphilitic hepatitis ICD9CM_2006:091.62 ICD10CM:N36.42 ICD9CM:599.82 SNOMEDCT_US_2016_03_01:16031000119101 UMLS_CUI:C0375381 Intrinsic (urethral) sphincter deficiency [ISD] disease_ontology DOID:13461 urethral intrinsic sphincter deficiency Intrinsic (urethral) sphincter deficiency [ISD] ICD9CM_2006:599.82 Genital syphilis Genital syphilis (primary) primary genital syphilis (disorder) primary genital syphilis (disorder) [Ambiguous] disease_ontology DOID:13468 primary genital syphilis true Genital syphilis MTHICD9_2006:091.0 Genital syphilis (primary) ICD9CM_2006:091.0 primary genital syphilis (disorder) SNOMEDCT_2005_07_31:186847001 primary genital syphilis (disorder) [Ambiguous] SNOMEDCT_2005_07_31:58433006 secondary syphilis of skin and mucous membrane (disorder) secondary syphilis of skin or mucous membranes secondary syphilis of skin or mucus membranes NOS (disorder) disease_ontology DOID:13469 secondary cutaneous syphilis true secondary syphilis of skin and mucous membrane (disorder) SNOMEDCT_2005_07_31:186850003 secondary syphilis of skin or mucous membranes ICD9CM_2006:091.3 secondary syphilis of skin or mucus membranes NOS (disorder) SNOMEDCT_2005_07_31:186852006 A primary syphilis that is characterized by occurence of painless sores on the anus, which is caused by the spirochete Treponema pallidum. primary anal syphilis (disorder) disease_ontology DOID:13470 primary anal syphilis true A primary syphilis that is characterized by occurence of painless sores on the anus, which is caused by the spirochete Treponema pallidum. url:http://www.cdc.gov/std/syphilis/STDFact-Syphilis.htm url:http://www.merck.com/mmpe/sec14/ch194/ch194i.html?qt=syphilis&alt=sh primary anal syphilis (disorder) SNOMEDCT_2005_07_31:31015008 Adenopathy due to secondary syphilis secondary syphilitic adenopathy (disorder) secondary syphilitic lymphadenitis disease_ontology DOID:13471 secondary syphilitic lymphadenitis true Adenopathy due to secondary syphilis ICD9CM_2006:091.4 secondary syphilitic adenopathy (disorder) SNOMEDCT_2005_07_31:59934002 secondary syphilitic lymphadenitis MTHICD9_2006:091.4 ICD9CM:372.43 SNOMEDCT_US_2016_03_01:193882008 SNOMEDCT_US_2016_03_01:43300008 UMLS_CUI:C0155156 disease_ontology DOID:13473 central pterygium ICD9CM:372.42 SNOMEDCT_US_2016_03_01:193881001 SNOMEDCT_US_2016_03_01:48480005 UMLS_CUI:C0155155 disease_ontology DOID:13474 progressive peripheral pterygium ICD10CM:C32.1 ICD9CM:161.1 NCI:C3545 SNOMEDCT_US_2016_03_01:154482003 SNOMEDCT_US_2016_03_01:187842004 SNOMEDCT_US_2016_03_01:269558005 SNOMEDCT_US_2016_03_01:94080006 UMLS_CUI:C0153484 Ca larynx - supraglottis Ca larynx - supraglottis (disorder) malignant Supraglottic tumor malignant neoplasm of extrinsic larynx malignant neoplasm of supraglottis malignant tumor of supraglottis (disorder) supraglottis disease_ontology DOID:13476 supraglottis cancer Ca larynx - supraglottis SNOMEDCT_2005_07_31:154482003 Ca larynx - supraglottis (disorder) SNOMEDCT_2005_07_31:269558005 malignant Supraglottic tumor NCI2004_11_17:C3545 malignant neoplasm of extrinsic larynx MTHICD9_2006:161.1 malignant neoplasm of supraglottis ICD9CM_2006:161.1 malignant neoplasm of supraglottis SNOMEDCT_2005_07_31:94080006 malignant tumor of supraglottis (disorder) SNOMEDCT_2005_07_31:187842004 supraglottis NCI2004_11_17:C12279 ICD9CM:607.81 NCI:C3523 SNOMEDCT_US_2016_03_01:198028006 SNOMEDCT_US_2016_03_01:198033005 SNOMEDCT_US_2016_03_01:367113004 SNOMEDCT_US_2016_03_01:43790000 SNOMEDCT_US_2016_03_01:700082001 UMLS_CUI:C0152460 Penile Lichen Sclerosus disease_ontology DOID:13477 balanitis xerotica obliterans Penile Lichen Sclerosus NCI2004_11_17:C3523 disease_ontology DOID:13480 paranoid type schizophrenia chronic state with acute exacerbation true An osteochondrodysplasia that results_in short arms and legs with excess folds of skin. ICD10CM:Q77.1 MESH:D013796 NCI:C85187 OMIM:187600 OMIM:187601 OMIM:273680 ORDO:1860 ORDO:2655 ORDO:93274 ORDO:93275 SNOMEDCT_US_2016_03_01:29352008 UMLS_CUI:C0039743 disease_ontology DOID:13481 Xref MGI. OMIM mapping confirmed by DO. [LS]. thanatophoric dysplasia An osteochondrodysplasia that results_in short arms and legs with excess folds of skin. url:http://emedicine.medscape.com/article/949591-overview url:http://en.wikipedia.org/wiki/Thanatophoric_dysplasia url:http://ghr.nlm.nih.gov/condition/thanatophoric-dysplasia MESH:D016715 NCI:C85032 OMIM:176920 SNOMEDCT_US_2016_03_01:23150001 SNOMEDCT_US_2016_03_01:394527003 UMLS_CUI:C0085261 Wiedemann's syndrome disease_ontology DOID:13482 OMIM mapping confirmed by DO. [SN]. Proteus syndrome disease_ontology DOID:13484 disorganized type schizophrenia chronic state true A pervasive developmental disorder that is a rare condition characterized by late onset (>3 years of age) of developmental delays in language, social function, and motor skills where children who have had previously normal development who then appear to regress. ICD10CM:F84.3 ICD9CM:299.1 NCI:C97164 SNOMEDCT_US_2016_03_01:191694008 SNOMEDCT_US_2016_03_01:192584009 SNOMEDCT_US_2016_03_01:71961003 UMLS_CUI:C0236791 Disintegrative psychosis NOS (disorder) Heller's syndrome Symbiotic psychosis disease_ontology DOID:13487 childhood disintegrative disease A pervasive developmental disorder that is a rare condition characterized by late onset (>3 years of age) of developmental delays in language, social function, and motor skills where children who have had previously normal development who then appear to regress. url:http://en.wikipedia.org/wiki/Heller%27s_syndrome url:http://www.patient.co.uk/doctor/Heller%27s-Syndrome.htm Disintegrative psychosis NOS (disorder) SNOMEDCT_2005_07_31:191694008 Symbiotic psychosis SNOMEDCT_2005_07_31:192584009 ICD9CM:386.01 SNOMEDCT_US_2016_03_01:194348002 SNOMEDCT_US_2016_03_01:8535002 UMLS_CUI:C0155496 Cochleovestibular active Mnire's disease (disorder) active Meniere's disease, cochleovestibular active cochleovestibular Meniere disease disease_ontology DOID:13490 active cochleovestibular Meniere's disease Cochleovestibular active Mnire's disease (disorder) SNOMEDCT_2005_07_31:8535002 active Meniere's disease, cochleovestibular ICD9CM_2006:386.01 ICD9CM:386.03 SNOMEDCT_US_2016_03_01:194350005 SNOMEDCT_US_2016_03_01:51003001 UMLS_CUI:C0155498 Vestibular active Mnire's disease (disorder) active Meniere's disease, vestibular active vestibular Meniere disease disease_ontology DOID:13491 active vestibular Meniere's disease Vestibular active Mnire's disease (disorder) SNOMEDCT_2005_07_31:51003001 active Meniere's disease, vestibular ICD9CM_2006:386.03 ICD9CM:386.02 SNOMEDCT_US_2016_03_01:194349005 SNOMEDCT_US_2016_03_01:21653008 UMLS_CUI:C0155497 Cochlear active Mnire's disease (disorder) active Meniere's disease, cochlear active cochlear Meniere disease disease_ontology DOID:13492 active cochlear Meniere's disease Cochlear active Mnire's disease (disorder) SNOMEDCT_2005_07_31:21653008 active Meniere's disease, cochlear ICD9CM_2006:386.02 ICD10CM:N34.3 ICD9CM:597.81 SNOMEDCT_US_2016_03_01:155893003 SNOMEDCT_US_2016_03_01:197906006 SNOMEDCT_US_2016_03_01:266633007 SNOMEDCT_US_2016_03_01:31273004 UMLS_CUI:C0156279 disease_ontology DOID:13498 urethral syndrome ICD10CM:C17.1 ICD9CM:152.1 MESH:D007580 SNOMEDCT_US_2016_03_01:363404008 SNOMEDCT_US_2016_03_01:93846004 UMLS_CUI:C0153427 malignant neoplasm of jejunum malignant tumor of jejunum (disorder) disease_ontology DOID:13499 jejunal cancer malignant neoplasm of jejunum ICD9CM_2006:152.1 malignant neoplasm of jejunum MTH:U001249 malignant neoplasm of jejunum SNOMEDCT_2005_07_31:93846004 malignant tumor of jejunum (disorder) SNOMEDCT_2005_07_31:363404008 NCI:C40275 UMLS_CUI:C1511106 disease_ontology DOID:135 benign vaginal carcinosarcoma MESH:D010255 NCI:C7488 SNOMEDCT_US_2016_03_01:126675008 UMLS_CUI:C0030470 neoplasm of accessory sinus tumor of Accessory sinus disease_ontology DOID:1350 paranasal sinus neoplasm neoplasm of accessory sinus SNOMEDCT_2005_07_31:126675008 tumor of Accessory sinus NCI2004_11_17:C7488 MESH:D014064 NCI:C35075 SNOMEDCT_US_2016_03_01:255225007 SNOMEDCT_US_2016_03_01:81934005 UMLS_CUI:C0040414 Hairy Tongue Overgrowth of filiform papillae (disorder) disease_ontology DOID:13500 hairy tongue Hairy Tongue NCI2004_11_17:C35075 Overgrowth of filiform papillae (disorder) SNOMEDCT_2005_07_31:255225007 ICD10CM:Q87.0 MESH:D020331 NCI:C84893 OMIM:157900 SNOMEDCT_US_2016_03_01:393607001 SNOMEDCT_US_2016_03_01:89444000 UMLS_CUI:C0221060 Moebius congenital oculofacial paralysis Oromandibular-limb hypogenesis spectrum disease_ontology DOID:13501 OMIM mapping confirmed by DO. [SN]. Mobius syndrome Moebius congenital oculofacial paralysis SNOMEDCT_2005_07_31:393607001 Oromandibular-limb hypogenesis spectrum SNOMEDCT_2005_07_31:89444000 ICD10CM:N30.3 ICD9CM:595.3 NCI:C123175 SNOMEDCT_US_2016_03_01:155885003 SNOMEDCT_US_2016_03_01:197843007 SNOMEDCT_US_2016_03_01:197844001 SNOMEDCT_US_2016_03_01:266562000 SNOMEDCT_US_2016_03_01:266629000 SNOMEDCT_US_2016_03_01:74445007 UMLS_CUI:C1261278 disease_ontology DOID:13507 trigonitis ICD9CM:362.36 UMLS_CUI:C0154842 Venous tributary (branch) occlusion of retina Venous tributary branch occlusion of retina disease_ontology DOID:13514 venous tributary occlusion of retina Venous tributary (branch) occlusion of retina ICD9CM_2006:362.36 Venous tributary branch occlusion of retina MTHICD9_2006:362.36 ICD10CM:Q85.1 ICD9CM:759.5 MESH:D014402 NCI:C3424 OMIM:191100 OMIM:613254 SNOMEDCT_US_2016_03_01:157027006 SNOMEDCT_US_2016_03_01:157033002 SNOMEDCT_US_2016_03_01:268359006 SNOMEDCT_US_2016_03_01:7199000 UMLS_CUI:C0041341 Bourneville's disease Epiloia Tuberose sclerosis Tuberous sclerosis Tuberous sclerosis syndrome (disorder) cerebral sclerosis disease_ontology DOID:13515 OMIM mapping confirmed by DO. [LS]. tuberous sclerosis Bourneville's disease NCI2004_11_17:C3424 Epiloia MTHICD9_2006:759.5 Tuberose sclerosis SNOMEDCT_2005_07_31:157033002 Tuberose sclerosis SNOMEDCT_2005_07_31:268359006 Tuberous sclerosis ICD9CM_2006:759.5 Tuberous sclerosis SNOMEDCT_2005_07_31:157027006 Tuberous sclerosis syndrome (disorder) SNOMEDCT_2005_07_31:7199000 cerebral sclerosis CSP2005:0727-2535 DOID:13885 DOID:14206 DOID:14207 DOID:14208 DOID:14209 DOID:14211 DOID:14212 Stiffness of joint, NEC, involving ankle and foot in ICD9CM_2006 Stiffness of joint, NEC, involving forearm in ICD9CM_2005 Stiffness of joint, NEC, involving forearm in ICD9CM_2006 Stiffness of joint, NEC, involving hand in ICD9CM_2005 Stiffness of joint, NEC, involving hand in ICD9CM_2006 Stiffness of joint, NEC, involving lower leg in ICD9CM_2005 Stiffness of joint, NEC, involving lower leg in ICD9CM_2006 Stiffness of joint, NEC, involving multiple sites in ICD9CM_2005 Stiffness of joint, NEC, involving multiple sites in ICD9CM_2006 Stiffness of joint, NEC, involving pelvic region and thigh in ICD9CM_2005 Stiffness of joint, NEC, involving pelvic region and thigh in ICD9CM_2006 Stiffness of joint, NEC, involving shoulder region in ICD9CM_2005 Stiffness of joint, NEC, involving shoulder region in ICD9CM_2006 Stiffness of joint, NEC, involving upper arm in ICD9CM_2005 Stiffness of joint, NEC, involving upper arm in ICD9CM_2006 Stiffness of joint, not elsewhere classified, involving ankle and foot Stiffness of joint, not elsewhere classified, involving forearm Stiffness of joint, not elsewhere classified, involving hand Stiffness of joint, not elsewhere classified, involving lower leg Stiffness of joint, not elsewhere classified, involving multiple sites Stiffness of joint, not elsewhere classified, involving pelvic region and thigh Stiffness of joint, not elsewhere classified, involving shoulder region Stiffness of joint, not elsewhere classified, involving upper arm disease_ontology DOID:13518 stiffness of joint true Stiffness of joint, NEC, involving ankle and foot in ICD9CM_2006 MTH:NOCODE Stiffness of joint, NEC, involving forearm in ICD9CM_2006 MTH:NOCODE Stiffness of joint, NEC, involving hand in ICD9CM_2006 MTH:NOCODE Stiffness of joint, NEC, involving lower leg in ICD9CM_2006 MTH:NOCODE Stiffness of joint, NEC, involving multiple sites in ICD9CM_2006 MTH:NOCODE Stiffness of joint, NEC, involving pelvic region and thigh in ICD9CM_2006 MTH:NOCODE Stiffness of joint, NEC, involving shoulder region in ICD9CM_2006 MTH:NOCODE Stiffness of joint, NEC, involving upper arm in ICD9CM_2006 MTH:NOCODE Stiffness of joint, not elsewhere classified, involving ankle and foot ICD9CM_2006:719.57 Stiffness of joint, not elsewhere classified, involving forearm ICD9CM_2006:719.53 Stiffness of joint, not elsewhere classified, involving hand ICD9CM_2006:719.54 Stiffness of joint, not elsewhere classified, involving lower leg ICD9CM_2006:719.56 Stiffness of joint, not elsewhere classified, involving multiple sites ICD9CM_2006:719.59 Stiffness of joint, not elsewhere classified, involving pelvic region and thigh ICD9CM_2006:719.55 Stiffness of joint, not elsewhere classified, involving shoulder region ICD9CM_2006:719.51 Stiffness of joint, not elsewhere classified, involving upper arm ICD9CM_2006:719.52 MESH:D010254 NCI:C26843 SNOMEDCT_US_2016_03_01:195823002 SNOMEDCT_US_2016_03_01:7393007 UMLS_CUI:C0030469 disorder of nasal sinus disease_ontology DOID:1352 paranasal sinus disease disorder of nasal sinus SNOMEDCT_2005_07_31:7393007 ICD10CM:P39.0 ICD9CM:771.5 SNOMEDCT_US_2016_03_01:3468005 UMLS_CUI:C0158948 disease_ontology DOID:13520 neonatal infective mastitis A tetanus that occurs in newborn babies when the birth cord stump gets dirty through cutting it with an unclean blade or applying substances containing bacteria to it. The infection has_symptom stiff body, has_symptom muscle spasms, has_symptom difficulty in breathing, and has_symptom exhaustion. ICD10CM:A33 ICD9CM:771.3 NCI:C116814 SNOMEDCT_US_2016_03_01:206338004 SNOMEDCT_US_2016_03_01:206339007 SNOMEDCT_US_2016_03_01:43424001 UMLS_CUI:C0343312 Tetanus neonatorum (disorder) neonatal tetanus disease_ontology DOID:13521 tetanus neonatorum A tetanus that occurs in newborn babies when the birth cord stump gets dirty through cutting it with an unclean blade or applying substances containing bacteria to it. The infection has_symptom stiff body, has_symptom muscle spasms, has_symptom difficulty in breathing, and has_symptom exhaustion. url:http://www.doh.gov.za/programmes/polio/nnt.pdf Tetanus neonatorum (disorder) SNOMEDCT_2005_07_31:43424001 A filariasis that involves parasitic infection of the skin and eyes caused by the nematode Loa loa, which is transmitted through the bite of a deer fly or mango fly. The disease is characterized by episodic angioedema in the arms and legs, and cyst-like enlargements of the connective tissue around the sheaths of muscle tendons. Dead worms may cause chronic abscesses, which may lead to the formation of granulomatous reactions and fibrosis. ICD10CM:B74.3 ICD9CM:125.2 MESH:D008118 NCI:C34784 SNOMEDCT_US_2016_03_01:44250009 UMLS_CUI:C0023968 disease_ontology DOID:13523 loiasis A filariasis that involves parasitic infection of the skin and eyes caused by the nematode Loa loa, which is transmitted through the bite of a deer fly or mango fly. The disease is characterized by episodic angioedema in the arms and legs, and cyst-like enlargements of the connective tissue around the sheaths of muscle tendons. Dead worms may cause chronic abscesses, which may lead to the formation of granulomatous reactions and fibrosis. url:http://en.wikipedia.org/wiki/Loiasis A candidiasis that results_in inflammation located_in endocardium, has_material_basis_in Candida, which favors previously damaged or prosthetic heart valves. The source is often an intravascular catheter or contaminated equipment used for illicit intravenous drug injection. The illness has_symptom fever, has_symptom murmur, has_symptom congestive heart failure, has_symptom anemia, and has_symptom splenomegaly. Candidal endocarditis (disorder) disease_ontology DOID:13526 candidal endocarditis true A candidiasis that results_in inflammation located_in endocardium, has_material_basis_in Candida, which favors previously damaged or prosthetic heart valves. The source is often an intravascular catheter or contaminated equipment used for illicit intravenous drug injection. The illness has_symptom fever, has_symptom murmur, has_symptom congestive heart failure, has_symptom anemia, and has_symptom splenomegaly. url:http://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/ url:http://www.accessmedicine.com/resourceTOC.aspx?resourceID=4 Candidal endocarditis (disorder) SNOMEDCT_2005_07_31:63553008 A candidiasis that involves fungal infection of the outer ear canal caused by Candida species. The symptoms include discharge, tinnitus, pruritus, and a feeling of fullness in the ear resulting in scratching and further damage to the epidermis. Candidal otitis externa (disorder) Candidal: [otitis externa] or [otomycosis] otomycosis in moniliasis disease_ontology DOID:13527 candidal otitis externa true A candidiasis that involves fungal infection of the outer ear canal caused by Candida species. The symptoms include discharge, tinnitus, pruritus, and a feeling of fullness in the ear resulting in scratching and further damage to the epidermis. url:http://en.wikipedia.org/wiki/Moniliasis url:http://en.wikipedia.org/wiki/Otomycosis url:http://www.aafp.org/afp/2001/0301/p927.html url:http://www.blackwellpublishing.com/eccmid14/abstract.asp?id=14641 Candidal otitis externa (disorder) SNOMEDCT_2005_07_31:16681000 Candidal: [otitis externa] or [otomycosis] SNOMEDCT_2005_07_31:187021000 A candidiasis that involves infection of the small intestine caused by Candida species, resulting in ulceration. gastrointestinal candidiasis (disorder) intestinal moniliasis disease_ontology DOID:13528 candidal enteritis true A candidiasis that involves infection of the small intestine caused by Candida species, resulting in ulceration. url:http://emedicine.medscape.com/article/213853-overview url:http://www.mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/index.html gastrointestinal candidiasis (disorder) SNOMEDCT_2005_07_31:84679006 intestinal moniliasis SNOMEDCT_2005_07_31:187023002 An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones. ICD10CM:Q78.2 ICD9CM:756.52 MESH:D010022 NCI:C26840 OMIM:PS259700 OMIM:PS607634 ORDO:667 SNOMEDCT_US_2016_03_01:1926006 SNOMEDCT_US_2016_03_01:205500005 SNOMEDCT_US_2016_03_01:205502002 SNOMEDCT_US_2016_03_01:360504006 SNOMEDCT_US_2016_03_01:367489004 SNOMEDCT_US_2016_03_01:63941000 UMLS_CUI:C0029454 Albers-Schonberg disease marble bone disease_ontology DOID:13533 Xref MGI. OMIM mapping submitted by NeuroDevNet. [LS]. osteopetrosis An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones. url:http://emedicine.medscape.com/article/123968-overview url:http://en.wikipedia.org/wiki/Osteopetrosis marble bone CSP2005:1849-7232 A labyrinthitis which is a bacterial infectious disease of the inner ear, often causing deafness and loss of vestibular function. This is caused when bacteria spread to the inner ear during the course of severe acute otitis media, purulent meningitis, or an enlarging cholesteatoma. ICD9CM:386.33 SNOMEDCT_US_2016_03_01:24817009 UMLS_CUI:C0155506 Suppurative labyrinthitis Suppurative labyrinthitis (disorder) bacterial labyrinthitis disease_ontology acute suppurative labyrinthitis DOID:13534 purulent labyrinthitis A labyrinthitis which is a bacterial infectious disease of the inner ear, often causing deafness and loss of vestibular function. This is caused when bacteria spread to the inner ear during the course of severe acute otitis media, purulent meningitis, or an enlarging cholesteatoma. url:http://www.merck.com/mmpe/sec08/ch086/ch086g.html?qt=irritation%20and%20swelling%20of%20the%20inner%20ear.&alt=sh Suppurative labyrinthitis ICD9CM_2006:386.33 Suppurative labyrinthitis (disorder) SNOMEDCT_2005_07_31:24817009 Mast cell malignancy of intrapelvic lymph nodes (disorder) malignant mast cell tumors involving intrapelvic lymph nodes disease_ontology DOID:13535 intrapelvic lymph node mast cell malignancy true Mast cell malignancy of intrapelvic lymph nodes (disorder) SNOMEDCT_2005_07_31:188667001 malignant mast cell tumors involving intrapelvic lymph nodes ICD9CM_2006:202.66 NCI:C4552 SNOMEDCT_US_2016_03_01:255008003 UMLS_CUI:C0346366 Corneal Epidermoid carcinoma squamous cell carcinoma of cornea (disorder) disease_ontology squamous cell carcinoma of cornea DOID:13538 cornea squamous cell carcinoma Corneal Epidermoid carcinoma NCI2004_11_17:C4552 squamous cell carcinoma of cornea (disorder) SNOMEDCT_2005_07_31:255008003 A parathyroid gland disease characterized by an overactivity of the parathyroid glands, leading to an excess of parathyroid hormone in the body. ICD10CM:E21.3 ICD9CM:252.0 ICD9CM:252.00 MESH:D006961 NCI:C48259 OMIM:145000 OMIM:145001 OMIM:610071 ORDO:99879 SNOMEDCT_US_2016_03_01:154696001 SNOMEDCT_US_2016_03_01:190451000 SNOMEDCT_US_2016_03_01:66999008 UMLS_CUI:C0020502 disease_ontology DOID:13543 Xref MGI. hyperparathyroidism A parathyroid gland disease characterized by an overactivity of the parathyroid glands, leading to an excess of parathyroid hormone in the body. url:http://en.wikipedia.org/wiki/Hyperparathyroidism url:http://ghr.nlm.nih.gov/glossary=hyperparathyroidism ICD10CM:H40.12 ICD9CM:365.12 MESH:D057066 SNOMEDCT_US_2016_03_01:155124000 SNOMEDCT_US_2016_03_01:193567005 SNOMEDCT_US_2016_03_01:50485007 UMLS_CUI:C0152136 Normal tension glaucoma disease_ontology DOID:13544 low tension glaucoma Normal tension glaucoma SNOMEDCT_2005_07_31:50485007 ICD10CM:G21 ICD10CM:G21.9 ICD9CM:332.1 MESH:D010302 NCI:C34899 SNOMEDCT_US_2016_03_01:192830002 SNOMEDCT_US_2016_03_01:194477000 SNOMEDCT_US_2016_03_01:230292008 SNOMEDCT_US_2016_03_01:265377002 SNOMEDCT_US_2016_03_01:32798002 SNOMEDCT_US_2016_03_01:50364008 UMLS_CUI:C0030569 Symptomatic parkinsonism (disorder) disorder presenting primarily with parkinsonism secondary Parkinsonism secondary parkinsonism (disorder) secondary parkinsonism (disorder) [Ambiguous] secondary parkinsonism, unspecified secondary parkinsonism, unspecified (disorder) disease_ontology DOID:13548 secondary Parkinson disease Symptomatic parkinsonism (disorder) SNOMEDCT_2005_07_31:265377002 disorder presenting primarily with parkinsonism SNOMEDCT_2005_07_31:32798002 secondary Parkinsonism ICD9CM_2006:332.1 secondary Parkinsonism NCI2004_11_17:C34899 secondary parkinsonism (disorder) SNOMEDCT_2005_07_31:230292008 secondary parkinsonism (disorder) [Ambiguous] SNOMEDCT_2005_07_31:50364008 secondary parkinsonism, unspecified SNOMEDCT_2005_07_31:192830002 secondary parkinsonism, unspecified (disorder) SNOMEDCT_2005_07_31:194477000 ICD10CM:H40.23 ICD9CM:365.21 SNOMEDCT_US_2016_03_01:65460003 UMLS_CUI:C0154945 Angle-closure glaucoma, subacute Intermittent angle-closure glaucoma Prodromal angle closure glaucoma disease_ontology DOID:13549 interval angle-closure glaucoma Angle-closure glaucoma, subacute MTHICD9_2006:365.21 Intermittent angle-closure glaucoma ICD9CM_2006:365.21 Prodromal angle closure glaucoma SNOMEDCT_2005_07_31:65460003 NCI:C6068 UMLS_CUI:C1335339 Lymphoma of Accessory sinus lymphoma of paranasal sinus disease_ontology DOID:1355 paranasal sinus lymphoma Lymphoma of Accessory sinus NCI2004_11_17:C6068 MESH:D015812 NCI:C34639 SNOMEDCT_US_2016_03_01:193544008 SNOMEDCT_US_2016_03_01:270882001 SNOMEDCT_US_2016_03_01:33647009 SNOMEDCT_US_2016_03_01:392291006 UMLS_CUI:C0017605 ACG - Angle-closure glaucoma Angle Closure Glaucoma Angle-closure glaucoma (disorder) Closed angle glaucoma Narrow cleft glaucoma primary open-angle glaucoma with narrow angles disease_ontology DOID:13550 angle-closure glaucoma ACG - Angle-closure glaucoma SNOMEDCT_2005_07_31:270882001 Angle Closure Glaucoma MTH:NOCODE Angle Closure Glaucoma NCI2004_11_17:C34639 Angle-closure glaucoma (disorder) SNOMEDCT_2005_07_31:392291006 Closed angle glaucoma SNOMEDCT_2005_07_31:193544008 Narrow cleft glaucoma SNOMEDCT_2005_07_31:33647009 primary open-angle glaucoma with narrow angles SNOMEDCT_2005_07_31:314542007 disease_ontology DOID:13554 gonococcal peritonitis true Gonococcal infection of pharynx Gonorrhea of pharynx (disorder) gonococcal pharyngitis disease_ontology DOID:13555 pharyngeal gonorrhea true Gonococcal infection of pharynx ICD9CM_2006:098.6 Gonorrhea of pharynx (disorder) SNOMEDCT_2005_07_31:74372003 Gonococcal blennorrhagica Gonococcal keratosis (blennorrhagica) Gonococcal keratosis (disorder) disease_ontology DOID:13556 gonococcal keratosis true Gonococcal blennorrhagica MTHICD9_2006:098.81 Gonococcal keratosis (blennorrhagica) ICD9CM_2006:098.81 Gonococcal keratosis (disorder) SNOMEDCT_2005_07_31:60335002 Gonococcal Urethritis Gonococcal urethritis (disorder) disease_ontology DOID:13558 gonococcal urethritis true Gonococcal Urethritis NCI2004_11_17:C26787 Gonococcal urethritis (disorder) SNOMEDCT_2005_07_31:236682002 disease_ontology DOID:1356 lymphoma by site true ICD10CM:D25.2 ICD9CM:218.2 SNOMEDCT_US_2016_03_01:95280005 UMLS_CUI:C0153995 Subserous leiomyoma of uterus Subserous leiomyoma of uterus (disorder) disease_ontology DOID:13560 subserous uterine fibroid Subserous leiomyoma of uterus ICD9CM_2006:218.2 Subserous leiomyoma of uterus (disorder) SNOMEDCT_2005_07_31:95280005 ICD10CM:H47.32 ICD9CM:377.21 MESH:D015594 SNOMEDCT_US_2016_03_01:33629003 UMLS_CUI:C0029128 Drusen of optic disc optic nerve head drusen disease_ontology DOID:13561 optic disk drusen Drusen of optic disc ICD9CM_2006:377.21 optic nerve head drusen SNOMEDCT_2005_07_31:33629003 Glaucoma associated with pupillary block (disorder) secondary angle-closure glaucoma with pupil block disease_ontology DOID:13562 glaucoma associated with pupillary block true Glaucoma associated with pupillary block (disorder) SNOMEDCT_2005_07_31:43445008 secondary angle-closure glaucoma with pupil block SNOMEDCT_2005_07_31:193561006 An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney,heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system. CSP:1988-4002 ICD10CM:B44 ICD10CM:B44.9 ICD9CM:117.3 MESH:D001228 NCI:C2886 SNOMEDCT_US_2016_03_01:154408001 SNOMEDCT_US_2016_03_01:187087004 SNOMEDCT_US_2016_03_01:187492008 SNOMEDCT_US_2016_03_01:266218008 SNOMEDCT_US_2016_03_01:65553006 UMLS_CUI:C0004030 Infection due to Aspergillus disease_ontology DOID:13564 aspergillosis An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney,heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system. url:http://mycology.adelaide.edu.au/Mycoses/Opportunistic/Aspergillosis/ url:http://www.mayoclinic.com/print/aspergillosis/DS00950/METHOD=print&DSECTION=all Infection due to Aspergillus SNOMEDCT_2005_07_31:65553006 An aspergillosis that involves fungal infection of the central nervous system in immunocompromised patients caused by Aspergillus, presenting as a space-occupying lesion. MESH:D020953 UMLS_CUI:C0752342 disease_ontology DOID:13565 neuroaspergillosis An aspergillosis that involves fungal infection of the central nervous system in immunocompromised patients caused by Aspergillus, presenting as a space-occupying lesion. url:http://www.ncbi.nlm.nih.gov/pubmed/17377359 url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=aspergillosis ICD9CM:726.62 SNOMEDCT_US_2016_03_01:202869006 SNOMEDCT_US_2016_03_01:44245003 UMLS_CUI:C0158315 Tibial collateral ligament bursitis (disorder) disease_ontology DOID:13566 tibial collateral ligament bursitis Tibial collateral ligament bursitis (disorder) SNOMEDCT_2005_07_31:44245003 DOID:2372 ICD10CM:C31.0 ICD9CM:160.2 NCI:C3540 NCI:C9332 SNOMEDCT_US_2016_03_01:363425008 SNOMEDCT_US_2016_03_01:93889000 UMLS_CUI:C0153476 UMLS_CUI:C0740487 malignant neoplasm of antrum malignant tumor of the maxillary sinus disease_ontology DOID:1357 maxillary sinus cancer malignant neoplasm of antrum MTHICD9_2006:160.2 malignant tumor of the maxillary sinus NCI2004_11_17:C3540 disease_ontology DOID:13573 schizo-affective type schizophrenia chronic state with acute exacerbation true ICD9CM:366.15 SNOMEDCT_US_2016_03_01:193588001 SNOMEDCT_US_2016_03_01:78875003 UMLS_CUI:C0154980 Cortical senile cataract disease_ontology DOID:13574 cortical senile cataract Cortical senile cataract SNOMEDCT_2005_07_31:78875003 ICD9CM:252.02 UMLS_CUI:C1456268 disease_ontology DOID:13575 non-renal secondary hyperparathyroidism ICD10CM:O43.02 ICD10CM:O43.029 MESH:D005330 NCI:C113824 SNOMEDCT_US_2016_03_01:13404009 SNOMEDCT_US_2016_03_01:237299001 UMLS_CUI:C2909036 Fetal blood loss from fetal hemorrhage into co-twin Fetal hemorrhage into co-twin (disorder) Twin to twin transfusion Twin-to-twin blood transfer (disorder) disease_ontology DOID:13576 twin-to-twin transfusion syndrome Fetal blood loss from fetal hemorrhage into co-twin MTHICD9_2006:772.0 Fetal hemorrhage into co-twin (disorder) SNOMEDCT_2005_07_31:56268004 Twin to twin transfusion SNOMEDCT_2005_07_31:237299001 Twin-to-twin blood transfer (disorder) SNOMEDCT_2005_07_31:13404009 Ascorbic acid (vitamin C) deficiency Ascorbic acid defic. Ascorbic acid deficiency Ascorbic acid deficiency (disorder) deficiency of ascorbic acid (disorder) deficiency of vitamin C vitamin C deficiency disease_ontology DOID:13577 ascorbic acid deficiency true Ascorbic acid (vitamin C) deficiency SNOMEDCT_2005_07_31:190638001 Ascorbic acid defic. SNOMEDCT_2005_07_31:154727008 Ascorbic acid defic. SNOMEDCT_2005_07_31:267493006 Ascorbic acid deficiency ICD9CM_2006:267 Ascorbic acid deficiency (disorder) SNOMEDCT_2005_07_31:76169001 deficiency of ascorbic acid (disorder) SNOMEDCT_2005_07_31:124907004 deficiency of vitamin C MTHICD9_2006:267 vitamin C deficiency CSP2005:2116-7533 ICD10CM:E40 ICD9CM:260 MESH:D007732 SNOMEDCT_US_2016_03_01:154730001 SNOMEDCT_US_2016_03_01:267495004 SNOMEDCT_US_2016_03_01:58262005 UMLS_CUI:C0022806 Kwashiokor Nutritional edema with dyspigmentation of skin and hair Nutritional oedema with dyspigmentation of skin and/or hair disease_ontology DOID:13579 kwashiorkor Kwashiokor SNOMEDCT_2005_07_31:154730001 Kwashiokor SNOMEDCT_2005_07_31:267495004 Nutritional edema with dyspigmentation of skin and hair MTHICD9_2006:260 Nutritional oedema with dyspigmentation of skin and/or hair SNOMEDCT_2005_07_31:58262005 MESH:D008444 NCI:C3219 SNOMEDCT_US_2016_03_01:126676009 UMLS_CUI:C0024958 neoplasm of maxillary sinus (disorder) tumor of Maxillofacial sinus disease_ontology DOID:1358 maxillary sinus neoplasm neoplasm of maxillary sinus (disorder) SNOMEDCT_2005_07_31:126676009 tumor of Maxillofacial sinus NCI2004_11_17:C3219 ICD10CM:K83.1 ICD9CM:576.2 MESH:D002779 NCI:C83006 SNOMEDCT_US_2016_03_01:197446008 SNOMEDCT_US_2016_03_01:197447004 SNOMEDCT_US_2016_03_01:30144000 SNOMEDCT_US_2016_03_01:33688009 UMLS_CUI:C0008370 Obstruction of bile duct bile occlusion disease_ontology DOID:13580 cholestasis Obstruction of bile duct ICD9CM_2006:576.2 bile occlusion CSP2005:0413-4023 Magnesium deficiency Magnesium deficiency (disorder) magnesium deficiency disease_ontology DOID:13581 magnesium deficiency true Magnesium deficiency SNOMEDCT_2005_07_31:190664007 Magnesium deficiency (disorder) SNOMEDCT_2005_07_31:238118002 magnesium deficiency CSP2005:1851-4452 K deficiency potassium deficiency disease_ontology DOID:13582 potassium deficiency true K deficiency MTHICD9_2006:276.8 potassium deficiency CSP2005:1851-4491 disorder of fetal nutrition (disorder) disease_ontology DOID:13583 fetal nutrition disorder true disorder of fetal nutrition (disorder) SNOMEDCT_2005_07_31:363089008 ICD10CM:M27.3 ICD9CM:526.5 MESH:D004368 SNOMEDCT_US_2016_03_01:12033006 SNOMEDCT_US_2016_03_01:196465007 SNOMEDCT_US_2016_03_01:196466008 SNOMEDCT_US_2016_03_01:196467004 SNOMEDCT_US_2016_03_01:251331003 SNOMEDCT_US_2016_03_01:61804006 UMLS_CUI:C0013240 Alveolar periostitis (disorder) Alveolitis of jaw Alveolitis of jaw (disorder) Alveolitis of jaw NOS (disorder) Dry socket Dry tooth socket disease_ontology DOID:13585 alveolar periostitis Alveolar periostitis (disorder) SNOMEDCT_2005_07_31:251331003 Alveolitis of jaw ICD9CM_2006:526.5 Alveolitis of jaw (disorder) SNOMEDCT_2005_07_31:61804006 Alveolitis of jaw NOS (disorder) SNOMEDCT_2005_07_31:196467004 Dry socket MTHICD9_2006:526.5 Dry tooth socket SNOMEDCT_2005_07_31:196465007 Dry tooth socket SNOMEDCT_2005_07_31:196466008 ICD10CM:N97.2 ICD9CM:628.3 SNOMEDCT_US_2016_03_01:156063002 SNOMEDCT_US_2016_03_01:198458005 SNOMEDCT_US_2016_03_01:26899006 UMLS_CUI:C0156416 Infertility, female, of uterine origin disease_ontology DOID:13589 female infertility of uterine origin Infertility, female, of uterine origin ICD9CM_2006:628.3 A pre-eclampsia characterized by the presence of seizures. DOID:13592 ICD10CM:O15 ICD10CM:O15.9 MESH:D004461 NCI:C87167 SNOMEDCT_US_2016_03_01:156111007 SNOMEDCT_US_2016_03_01:15938005 SNOMEDCT_US_2016_03_01:198988006 SNOMEDCT_US_2016_03_01:198989003 SNOMEDCT_US_2016_03_01:198996001 UMLS_CUI:C0013537 Eclampsia in puerperium (disorder) Eclampsia, postpartum Postpartum eclampsia disease_ontology DOID:13593 eclampsia A pre-eclampsia characterized by the presence of seizures. url:http://ghr.nlm.nih.gov/condition/preeclampsia url:http://www.ncbi.nlm.nih.gov/pubmed/?term=24400024 Eclampsia in puerperium (disorder) SNOMEDCT_2005_07_31:303063000 Eclampsia, postpartum ICD9CM_2006:642.64 DOID:1904 DOID:6172 NCI:C40274 NCI:C40276 NCI:C40278 UMLS_CUI:C1512974 UMLS_CUI:C1519918 UMLS_CUI:C1519924 malignant vaginal mixed epithelial and mesenchymal tumor vaginal malignant mixed Mullerian tumor vaginal malignant mixed mesodermal (mullerian) tumor vaginal mixed epithelial and mesenchymal tumor disease_ontology DOID:136 vaginal carcinosarcoma ICD10CM:C31.2 ICD9CM:160.4 NCI:C3542 SNOMEDCT_US_2016_03_01:363427000 SNOMEDCT_US_2016_03_01:93808006 UMLS_CUI:C0153478 malignant neoplasm of frontal sinus malignant tumor of frontal sinus (disorder) malignant tumor of the Frontal sinus disease_ontology DOID:1360 frontal sinus cancer malignant neoplasm of frontal sinus ICD9CM_2006:160.4 malignant neoplasm of frontal sinus MTH:U001261 malignant neoplasm of frontal sinus SNOMEDCT_2005_07_31:93808006 malignant tumor of frontal sinus (disorder) SNOMEDCT_2005_07_31:363427000 malignant tumor of the Frontal sinus NCI2004_11_17:C3542 An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enteropathogenic Escherichia coli (EPEC), which has a plasmid-encoded protein referred to as EPEC adherence factor that enables localized adherence of bacteria to intestinal cells and a non fimbrial adhesin designated intimin, which is an outer membrane protein that mediates the final stages of adherence. EPEC induce a profuse watery (sometimes bloody) diarrhea. Enteropathogenic Escherichia coli gastrointestinal tract infection Enteropathogenic Escherichia coli gastrointestinal tract infection (disorder) intestinal infection due to enteropathogenic E. coli disease_ontology DOID:13601 enteropathogenic Escherichia coli infectious disease true An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enteropathogenic Escherichia coli (EPEC), which has a plasmid-encoded protein referred to as EPEC adherence factor that enables localized adherence of bacteria to intestinal cells and a non fimbrial adhesin designated intimin, which is an outer membrane protein that mediates the final stages of adherence. EPEC induce a profuse watery (sometimes bloody) diarrhea. url:http://www.textbookofbacteriology.net/e.coli_4.html Enteropathogenic Escherichia coli gastrointestinal tract infection SNOMEDCT_2005_07_31:186130000 Enteropathogenic Escherichia coli gastrointestinal tract infection (disorder) SNOMEDCT_2005_07_31:240353001 intestinal infection due to enteropathogenic E. coli ICD9CM_2006:008.01 disease_ontology DOID:13602 acute schizophrenic episode subchronic state true MESH:D041781 NCI:C34742 SNOMEDCT_US_2016_03_01:155832005 SNOMEDCT_US_2016_03_01:197452009 SNOMEDCT_US_2016_03_01:266545005 SNOMEDCT_US_2016_03_01:44018007 SNOMEDCT_US_2016_03_01:59848001 UMLS_CUI:C0022354 Cholestatic Jaundice Cholestatic jaundice syndrome (disorder) Obstructive hyperbilirubinemia Obstructive hyperbilirubinemia (disorder) Obstructive jaundice NOS Obstructive jaundice NOS (disorder) disease_ontology DOID:13603 obstructive jaundice Cholestatic Jaundice NCI2004_11_17:C34742 Cholestatic jaundice syndrome (disorder) SNOMEDCT_2005_07_31:44018007 Obstructive hyperbilirubinemia MTH:U000257 Obstructive hyperbilirubinemia (disorder) SNOMEDCT_2005_07_31:59848001 Obstructive jaundice NOS SNOMEDCT_2005_07_31:155832005 Obstructive jaundice NOS SNOMEDCT_2005_07_31:266545005 Obstructive jaundice NOS (disorder) SNOMEDCT_2005_07_31:197452009 disease_ontology DOID:13604 acute schizophrenic episode chronic state with acute exacerbation true disease_ontology DOID:13605 acute schizophrenic episode chronic state true A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder. ICD10CM:Q44.2 ICD9CM:751.61 MESH:D001656 NCI:C34421 NCI:C97069 ORDO:30391 SNOMEDCT_US_2016_03_01:204779004 SNOMEDCT_US_2016_03_01:204783004 SNOMEDCT_US_2016_03_01:77480004 SNOMEDCT_US_2016_03_01:82821008 UMLS_CUI:C0005411 Atresia of bile duct Congenital biliary atresia (disorder) biliary atresia, congenital disease_ontology DOID:13608 biliary atresia A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder. url:http://en.wikipedia.org/wiki/Biliary_atresia url:http://www.nlm.nih.gov/medlineplus/ency/article/000215.htm Atresia of bile duct SNOMEDCT_2005_07_31:204779004 Congenital biliary atresia (disorder) SNOMEDCT_2005_07_31:77480004 biliary atresia, congenital ICD9CM_2006:751.61 NCI:C4419 SNOMEDCT_US_2016_03_01:126678005 UMLS_CUI:C0345672 neoplasm of frontal sinus (disorder) tumor of the Frontal sinus disease_ontology DOID:1361 frontal sinus neoplasm neoplasm of frontal sinus (disorder) SNOMEDCT_2005_07_31:126678005 tumor of the Frontal sinus NCI2004_11_17:C4419 MESH:D001651 NCI:C34420 SNOMEDCT_US_2016_03_01:20719006 SNOMEDCT_US_2016_03_01:8262006 UMLS_CUI:C0005398 extrahepatic biliary Stasis extrahepatic cholestasis (finding) extrahepatic obstructive biliary disease (disorder) disease_ontology DOID:13619 extrahepatic cholestasis extrahepatic biliary Stasis NCI2004_11_17:C34420 extrahepatic cholestasis (finding) SNOMEDCT_2005_07_31:20719006 extrahepatic obstructive biliary disease (disorder) SNOMEDCT_2005_07_31:8262006 A sarcoma and malignant tumor of nasal sinuses that is located_in the paranasal sinus. NCI:C6849 UMLS_CUI:C1335342 sarcoma of Accessory sinus disease_ontology DOID:1362 paranasal sinus sarcoma A sarcoma and malignant tumor of nasal sinuses that is located_in the paranasal sinus. url:http://www.cancer.gov/cancertopics/pdq/treatment/paranasalsinus/Patient sarcoma of Accessory sinus NCI2004_11_17:C6849 ICD10CM:Q21.1 MESH:D054092 NCI:C34619 SNOMEDCT_US_2016_03_01:156912004 SNOMEDCT_US_2016_03_01:204317008 SNOMEDCT_US_2016_03_01:268316001 SNOMEDCT_US_2016_03_01:78902000 UMLS_CUI:C0016522 Atrial septal defect within oval fossa Defect, Patent or persistent, ostium secundum Ostium secundum type atrial septal defect Persistent ostium secundum foramen ovale patent disease_ontology DOID:13620 patent foramen ovale Atrial septal defect within oval fossa SNOMEDCT_2005_07_31:204315000 Defect, Patent or persistent, ostium secundum MTHICD9_2006:745.5 Ostium secundum type atrial septal defect ICD9CM_2006:745.5 Ostium secundum type atrial septal defect SNOMEDCT_2005_07_31:78902000 Persistent ostium secundum SNOMEDCT_2005_07_31:204318003 foramen ovale patent CSP2005:0725-0467 A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Campylobacter jejuni, which is transmitted_by ingestion of contaminated food or water or transmitted_by contact with infected people or animals. The infection has_symptom diarrhea or has_symptom dysentery, has_symptom abdominal cramps and pain, and has_symptom fever. DOID:13621 MESH:D002169 SNOMEDCT_US_2016_03_01:86500004 UMLS_CUI:C0006818 (Campylobacter GIT infection (& [diarrhea] or [enteritis]) or (helicobacter gastritis) Campylobacteriosis (disorder) disease_ontology DOID:13622 campylobacteriosis A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Campylobacter jejuni, which is transmitted_by ingestion of contaminated food or water or transmitted_by contact with infected people or animals. The infection has_symptom diarrhea or has_symptom dysentery, has_symptom abdominal cramps and pain, and has_symptom fever. url:http://en.wikipedia.org/wiki/Campylobacteriosis url:http://www.health.state.ny.us/diseases/communicable/campylobacteriosis/fact_sheet.htm (Campylobacter GIT infection (& [diarrhea] or [enteritis]) or (helicobacter gastritis) SNOMEDCT_2005_07_31:186143000 Campylobacteriosis (disorder) SNOMEDCT_2005_07_31:86500004 A staphylococcal infectious disease that involves infection of the intestine caused by staphylococci, which produce toxins. The symptoms include diarrhea, abdominal pain, vomiting and nausea. Staphylococcal enterocolitis (disorder) intestinal infection due to staphylococcus disease_ontology DOID:13623 staphylococcal enterocolitis true A staphylococcal infectious disease that involves infection of the intestine caused by staphylococci, which produce toxins. The symptoms include diarrhea, abdominal pain, vomiting and nausea. url:http://www.merck.com/mmpe/sec14/ch171/ch171c.html?qt=staphylococcus&alt=sh#S14_CH171_T001 Staphylococcal enterocolitis (disorder) SNOMEDCT_2005_07_31:32527003 intestinal infection due to staphylococcus ICD9CM_2006:008.41 ICD10CM:H16.13 ICD9CM:370.24 NCI:C118750 SNOMEDCT_US_2016_03_01:1714005 SNOMEDCT_US_2016_03_01:193770007 UMLS_CUI:C0155078 disease_ontology DOID:13626 photokeratitis A glucosephosphate dehydrogenase deficiency characterized by a hemolytic reaction to consumption of broad beans. ICD10CM:D55.0 MESH:D005236 NCI:C34607 SNOMEDCT_US_2016_03_01:154801000 SNOMEDCT_US_2016_03_01:191172001 SNOMEDCT_US_2016_03_01:267558001 SNOMEDCT_US_2016_03_01:76500009 UMLS_CUI:C0015702 DOID:13628 favism A glucosephosphate dehydrogenase deficiency characterized by a hemolytic reaction to consumption of broad beans. url:http://en.wikipedia.org/wiki/Glucosephosphate_dehydrogenase_deficiency ICD9CM:521.32 UMLS_CUI:C1456162 disease_ontology DOID:13629 dentine erosion ICD10CM:C31.1 ICD9CM:160.3 NCI:C3541 SNOMEDCT_US_2016_03_01:363426009 SNOMEDCT_US_2016_03_01:93787005 UMLS_CUI:C0153477 malignant neoplasm of ethmoidal sinus malignant tumor of ethmoid sinus (disorder) malignant tumor of ethmoidal sinus disease_ontology DOID:1363 ethmoid sinus cancer malignant neoplasm of ethmoidal sinus ICD9CM_2006:160.3 malignant neoplasm of ethmoidal sinus SNOMEDCT_2005_07_31:93787005 malignant tumor of ethmoid sinus (disorder) SNOMEDCT_2005_07_31:363426009 malignant tumor of ethmoidal sinus NCI2004_11_17:C3541 A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair. ICD10CM:D61.09 MESH:D005199 NCI:C62505 OMIM:PS227650 ORDO:84 SNOMEDCT_US_2016_03_01:30575002 UMLS_CUI:C0015625 Fanconi pancytopenia Fanconi panmyelopathy Fanconi's anemia disease_ontology DOID:13636 Xref MGI. OMIM mapping confirmed by DO. [SN]. OMIM mapping by NeuroDevNet. [LS]. Fanconi anemia A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair. url:http://en.wikipedia.org/wiki/Fanconi_anemia url:http://ghr.nlm.nih.gov/condition/fanconi-anemia url:http://rarediseases.info.nih.gov/gard/6425/fanconi-anemia/resources/1 NCI:C4416 SNOMEDCT_US_2016_03_01:126677000 UMLS_CUI:C0345668 neoplasm of ethmoidal sinus (disorder) tumor of ethmoidal sinus disease_ontology DOID:1364 ethmoidal sinus neoplasm neoplasm of ethmoidal sinus (disorder) SNOMEDCT_2005_07_31:126677000 tumor of ethmoidal sinus NCI2004_11_17:C4416 EFO:0004235 ICD9CM:365.52 MESH:D017889 OMIM:177650 SNOMEDCT_US_2016_03_01:111514006 SNOMEDCT_US_2016_03_01:44219007 UMLS_CUI:C0206368 Pseudoexfoliation glaucoma Pseudoexfoliation syndrome disease_ontology DOID:13641 OMIM mapping confirmed by DO. [SN]. exfoliation syndrome Pseudoexfoliation glaucoma ICD9CM_2006:365.52 Pseudoexfoliation syndrome SNOMEDCT_2005_07_31:44219007 Pneumococcal septicemia (disorder) Pneumococcal septicemia [Streptococcus pneumoniae septicemia] Septicaemia due to streptococcus pneumoniae Septicemia due to streptococcus pneumoniae (disorder) Streptococcus pneumoniae septicemia disease_ontology DOID:13643 pneumococcal septicemia true Pneumococcal septicemia (disorder) SNOMEDCT_2005_07_31:90849005 Pneumococcal septicemia [Streptococcus pneumoniae septicemia] ICD9CM_2006:038.2 Septicaemia due to streptococcus pneumoniae SNOMEDCT_2005_07_31:186382007 Septicemia due to streptococcus pneumoniae (disorder) SNOMEDCT_2005_07_31:310668004 Streptococcus pneumoniae septicemia MTHICD9_2006:038.2 Streptococcal septicemia (disorder) Streptococcal septicemia, unspecified (disorder) disease_ontology DOID:13644 streptococcal septicemia true Streptococcal septicemia (disorder) SNOMEDCT_2005_07_31:29577008 Streptococcal septicemia, unspecified (disorder) SNOMEDCT_2005_07_31:187330001 DOID:13647 disease_ontology DOID:13648 paranoid state true ICD9CM:357.1 SNOMEDCT_US_2016_03_01:193177003 SNOMEDCT_US_2016_03_01:193181003 UMLS_CUI:C0154759 disease_ontology DOID:13649 polyneuropathy in collagen vascular disease DOID:13851 DOID:14229 DOID:14273 DOID:14281 DOID:7102 DOID:9932 Joint disorder NOS, of ankle and foot (disorder) Joint disorder NOS, of multiple sites Joint disorder NOS, of multiple sites (disorder) Joint disorder NOS, of shoulder region Joint disorder NOS, of shoulder region (disorder) Joint disorder NOS, of the forearm Joint disorder NOS, of the forearm (disorder) Joint disorder NOS, of the lower leg Joint disorder NOS, of the lower leg (disorder) Joint disorder NOS, of the pelvic region and thigh Joint disorder NOS, of the pelvic region and thigh (disorder) Joint disorder NOS, of the upper arm Joint disorder NOS, of the upper arm (disorder) Unspecified disorder of ankle and foot joint Unspecified disorder of forearm joint Unspecified disorder of joint of pelvic region and thigh Unspecified disorder of joint of shoulder region Unspecified disorder of lower leg joint Unspecified disorder of upper arm joint Unspecified joint disorder of multiple sites disease_ontology DOID:13650 joint disorder true Joint disorder NOS, of ankle and foot (disorder) SNOMEDCT_2005_07_31:202642007 Joint disorder NOS, of multiple sites (disorder) SNOMEDCT_2005_07_31:202644008 Joint disorder NOS, of shoulder region (disorder) SNOMEDCT_2005_07_31:202636008 Joint disorder NOS, of the forearm (disorder) SNOMEDCT_2005_07_31:202638009 Joint disorder NOS, of the lower leg (disorder) SNOMEDCT_2005_07_31:202641000 Joint disorder NOS, of the pelvic region and thigh (disorder) SNOMEDCT_2005_07_31:202640004 Joint disorder NOS, of the upper arm (disorder) SNOMEDCT_2005_07_31:202637004 Unspecified disorder of ankle and foot joint ICD9CM_2006:719.97 Unspecified disorder of forearm joint ICD9CM_2006:719.93 Unspecified disorder of joint of pelvic region and thigh ICD9CM_2006:719.95 Unspecified disorder of joint of shoulder region ICD9CM_2006:719.91 Unspecified disorder of lower leg joint ICD9CM_2006:719.96 Unspecified disorder of upper arm joint ICD9CM_2006:719.92 Unspecified joint disorder of multiple sites ICD9CM_2006:719.99 ICD10CM:H04.52 ICD9CM:375.51 SNOMEDCT_US_2016_03_01:28244003 UMLS_CUI:C0155243 disease_ontology DOID:13651 eversion of lacrimal punctum ICD10CM:H04.56 ICD9CM:375.52 SNOMEDCT_US_2016_03_01:74783009 UMLS_CUI:C0155244 disease_ontology DOID:13653 stenosis of lacrimal punctum ICD10CM:H04.54 ICD10CM:H04.549 ICD9CM:375.53 SNOMEDCT_US_2016_03_01:193992001 SNOMEDCT_US_2016_03_01:81345003 UMLS_CUI:C0155245 Stenosis of lacrimal canaliculi disease_ontology DOID:13654 stenosis of lacrimal passage Stenosis of lacrimal canaliculi ICD9CM_2006:375.53 ICD10CM:H04.55 ICD9CM:375.56 SNOMEDCT_US_2016_03_01:155184002 SNOMEDCT_US_2016_03_01:193995004 SNOMEDCT_US_2016_03_01:267739007 SNOMEDCT_US_2016_03_01:90056003 UMLS_CUI:C0155248 Stenosis of nasolacrimal duct, acquired Tear duct - acquired stenosis acquired nasolacrimal duct stenosis acquired stenosis of nasolacrimal duct disease_ontology DOID:13655 acquired tear duct stenosis Stenosis of nasolacrimal duct, acquired ICD9CM_2006:375.56 Tear duct - acquired stenosis SNOMEDCT_2005_07_31:155184002 acquired nasolacrimal duct stenosis SNOMEDCT_2005_07_31:193995004 acquired stenosis of nasolacrimal duct SNOMEDCT_2005_07_31:90056003 ICD9CM:251.5 SNOMEDCT_US_2016_03_01:190443003 SNOMEDCT_US_2016_03_01:190445005 SNOMEDCT_US_2016_03_01:47344007 UMLS_CUI:C0000774 disease_ontology DOID:13656 gastrin secretion abnormality ICD9CM:598.01 UMLS_CUI:C0156282 disease_ontology DOID:13658 infective urethral stricture ICD10CM:K62.6 ICD9CM:569.41 SNOMEDCT_US_2016_03_01:197227009 UMLS_CUI:C0400832 anal and rectal ulcer NOS (disorder) disease_ontology DOID:13662 ulcer of anus and rectum anal and rectal ulcer NOS (disorder) SNOMEDCT_2005_07_31:197227009 A purulent acute otitis media with no perforation of the tympanic membrane. acute suppurative otitis media without spontaneous rupture of ear drum acute suppurative otitis media without spontaneous rupture of ear drum (disorder) disease_ontology DOID:13663 acute suppurative otitis media with tympanic membrane intact true A purulent acute otitis media with no perforation of the tympanic membrane. url:http://books.google.com/books?id=V3p0FpcwweYC&pg=PA701&lpg#v=onepage&q=&f=false acute suppurative otitis media without spontaneous rupture of ear drum ICD9CM_2006:382.00 acute suppurative otitis media without spontaneous rupture of ear drum (disorder) SNOMEDCT_2005_07_31:14948001 ICD10CM:G04.02 MESH:D004673 SNOMEDCT_US_2016_03_01:31367003 UMLS_CUI:C0751101 Encephalitis following immunization procedures Postvaccinal encephalomyelitis disease_ontology DOID:13664 post-vaccinal encephalitis Encephalitis following immunization procedures ICD9CM_2006:323.5 Postvaccinal encephalomyelitis SNOMEDCT_2005_07_31:31367003 Meningococcal encephalitis (disorder) disease_ontology DOID:13668 meningococcal encephalitis true Meningococcal encephalitis (disorder) SNOMEDCT_2005_07_31:18071005 Hypocalcemia and/or hypomagnesemia of newborn (disorder) disease_ontology DOID:13670 hypocalcemia and hypomagnesemia of newborn true Hypocalcemia and/or hypomagnesemia of newborn (disorder) SNOMEDCT_2005_07_31:77604004 ICD10CM:H15.03 ICD9CM:379.07 SNOMEDCT_US_2016_03_01:194144007 SNOMEDCT_US_2016_03_01:267660007 SNOMEDCT_US_2016_03_01:49429000 UMLS_CUI:C0155357 disease_ontology DOID:13676 posterior scleritis MESH:D020083 NCI:C119049 NCI:C84530 SNOMEDCT_US_2016_03_01:203140009 SNOMEDCT_US_2016_03_01:60684003 UMLS_CUI:C0263859 Synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome disease_ontology DOID:13677 SAPHO syndrome Synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome SNOMEDCT_2005_07_31:203140009 disease_ontology DOID:13679 simple type schizophrenia subchronic state true disease_ontology DOID:13680 simple type schizophrenia subchronic state with acute exacerbation true disease_ontology DOID:13681 simple type schizophrenia in remission true disease_ontology DOID:13682 simple type schizophrenia chronic state true ICD10CM:K31.5 ICD9CM:537.2 SNOMEDCT_US_2016_03_01:52232007 UMLS_CUI:C0156087 chronic duodenal ileus (disorder) disease_ontology DOID:13687 chronic duodenal ileus chronic duodenal ileus (disorder) SNOMEDCT_2005_07_31:52232007 ICD10CM:N42.0 ICD9CM:602.0 NCI:C26936 SNOMEDCT_US_2016_03_01:155934005 SNOMEDCT_US_2016_03_01:85324003 SNOMEDCT_US_2016_03_01:95592006 UMLS_CUI:C0149525 Prostatic lithiasis Prostatic stone Stone of prostate calculus of prostate disease_ontology DOID:13689 prostate calculus Prostatic lithiasis SNOMEDCT_2005_07_31:95592006 Prostatic stone MTHICD9_2006:602.0 Stone of prostate NCI2004_11_17:C26936 calculus of prostate ICD9CM_2006:602.0 ICD9CM:098.11 SNOMEDCT_US_2016_03_01:24868007 UMLS_CUI:C0153191 Gonococcal cystitis (acute) acute gonorrhea of bladder disease_ontology DOID:13690 acute gonococcal cystitis Gonococcal cystitis (acute) ICD9CM_2006:098.11 acute gonorrhea of bladder MTHICD9_2006:098.11 NCI:C4632 SNOMEDCT_US_2016_03_01:154630005 SNOMEDCT_US_2016_03_01:201325006 SNOMEDCT_US_2016_03_01:276729007 UMLS_CUI:C0349502 Dermoid cyst of skin Dermoid cyst of skin (finding) skin Dermoid disease_ontology DOID:13691 dermoid cyst of skin Dermoid cyst of skin SNOMEDCT_2005_07_31:154630005 Dermoid cyst of skin SNOMEDCT_2005_07_31:201325006 Dermoid cyst of skin (finding) SNOMEDCT_2005_07_31:276729007 skin Dermoid NCI2004_11_17:C4632 Ureteric disease disorder of ureter (disorder) disease_ontology DOID:13693 disorder of ureter true Ureteric disease NCI2004_11_17:C27148 disorder of ureter (disorder) SNOMEDCT_2005_07_31:128073008 disease_ontology DOID:13694 unilateral vesicoureteral reflux with reflux nephropathy true disease_ontology DOID:13695 bilateral vesicoureteral reflux with reflux nephropathy true disease_ontology DOID:13696 vesicoureteral reflux with reflux nephropathy true A vaginal benign neoplasm that is characterized by the presence of a fibrovascular stalk lined by normal squamous epithelium. NCI:C6374 UMLS_CUI:C1336943 squamous papilloma of vagina disease_ontology DOID:137 vaginal squamous papilloma A vaginal benign neoplasm that is characterized by the presence of a fibrovascular stalk lined by normal squamous epithelium. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C6374 squamous papilloma of vagina NCI2004_11_17:C6374 disease_ontology DOID:13702 postpartum benign essential hypertension true ICD10CM:F52.4 ICD9CM:302.75 MESH:D061686 NCI:C94349 SNOMEDCT_US_2016_03_01:123302009 SNOMEDCT_US_2016_03_01:154905005 SNOMEDCT_US_2016_03_01:192468006 SNOMEDCT_US_2016_03_01:268762007 SNOMEDCT_US_2016_03_01:44001008 UMLS_CUI:C0033038 disease_ontology DOID:13709 premature ejaculation NCI:C27250 UMLS_CUI:C1336902 uterine corpus localized epithelial Mesothelioma disease_ontology DOID:1371 uterine corpus adenomatoid tumor ICD10CM:K00.3 ICD9CM:520.3 MESH:D009050 NCI:C85059 SNOMEDCT_US_2016_03_01:120541000119103 SNOMEDCT_US_2016_03_01:30265004 UMLS_CUI:C0026618 Intrinsic enamel discolouration of fluorosis Mottled teeth Mottling of enamel disease_ontology DOID:13711 dental fluorosis Intrinsic enamel discolouration of fluorosis SNOMEDCT_2005_07_31:30265004 Mottled teeth ICD9CM_2006:520.3 Mottling of enamel MTHICD9_2006:520.3 ICD10CM:K00.0 ICD9CM:520.0 MESH:D000848 OMIM:206780 SNOMEDCT_US_2016_03_01:16958000 SNOMEDCT_US_2016_03_01:196265005 SNOMEDCT_US_2016_03_01:196266006 SNOMEDCT_US_2016_03_01:196269004 SNOMEDCT_US_2016_03_01:234951001 SNOMEDCT_US_2016_03_01:26624006 UMLS_CUI:C0399352 Complete absence of teeth Developmental absence of tooth Total anodontia of permanent and deciduous teeth disease_ontology DOID:13714 anodontia Complete absence of teeth MTHICD9_2006:520.0 Total anodontia of permanent and deciduous teeth SNOMEDCT_2005_07_31:16958000 SNOMEDCT_US_2016_03_01:193590000 UMLS_CUI:C0152257 Total or mature cataract Total, mature senile cataract disease_ontology DOID:13717 mature cataract Total or mature cataract ICD9CM_2006:366.17 Total, mature senile cataract SNOMEDCT_2005_07_31:193590000 A schistosomiasis that involves parasitic infection of domestic animals by Schistosoma mattheei. Infection by Schistosoma Mattheii Infection by Schistosoma mattheii (disorder) disease_ontology DOID:13720 Schistosoma mattheei infectious disease true A schistosomiasis that involves parasitic infection of domestic animals by Schistosoma mattheei. url:http://en.wikipedia.org/wiki/Schistosomiasis Infection by Schistosoma Mattheii NCI2004_11_17:C35365 Infection by Schistosoma mattheii (disorder) SNOMEDCT_2005_07_31:38201005 A schistosomiasis that involves parasitic infection of the brain and spinal cord by Schistosoma haematobium, Schistosoma mansoni or Schistosoma japonicum causing acute or subacute myelopathy, focal central nervous system impairment, seizures and increased intracranial pressure. MESH:D020818 UMLS_CUI:C0752191 disease_ontology DOID:13722 neuroschistosomiasis A schistosomiasis that involves parasitic infection of the brain and spinal cord by Schistosoma haematobium, Schistosoma mansoni or Schistosoma japonicum causing acute or subacute myelopathy, focal central nervous system impairment, seizures and increased intracranial pressure. url:http://www.ajtmh.org/cgi/content/full/76/5/964 url:http://www.cdc.gov/ncidod/eid/vol12no09/06-0113.htm url:http://www.ncbi.nlm.nih.gov/pubmed/16138195 url:http://www.ncbi.nlm.nih.gov/sites/entrez/16138195 A schistosomiasis that involves parasitic infection of domestic animals caused by a trematode fluke Schistosoma bovis. Infection by Schistosoma Bovis Infection by Schistosoma bovis (disorder) disease_ontology DOID:13723 Schistosoma bovis infectious disease true A schistosomiasis that involves parasitic infection of domestic animals caused by a trematode fluke Schistosoma bovis. url:http://www.ncbi.nlm.nih.gov/sites/entrez/10333324 Infection by Schistosoma Bovis NCI2004_11_17:C35363 Infection by Schistosoma bovis (disorder) SNOMEDCT_2005_07_31:111920004 ICD10CM:E54 MESH:D012614 NCI:C35010 OMIM:240400 SNOMEDCT_US_2016_03_01:154727008 SNOMEDCT_US_2016_03_01:190638001 SNOMEDCT_US_2016_03_01:238129003 SNOMEDCT_US_2016_03_01:267493006 SNOMEDCT_US_2016_03_01:76169001 UMLS_CUI:C0036474 disease_ontology DOID:13724 OMIM mapping confirmed by DO. [SN]. scurvy ICD10CM:E51.1 ICD10CM:E51.11 ICD9CM:265.0 MESH:D001602 NCI:C34418 SNOMEDCT_US_2016_03_01:154725000 SNOMEDCT_US_2016_03_01:190625009 SNOMEDCT_US_2016_03_01:267491008 SNOMEDCT_US_2016_03_01:35843007 SNOMEDCT_US_2016_03_01:36656008 UMLS_CUI:C0005122 disease_ontology DOID:13725 beriberi NCI:C4262 SNOMEDCT_US_2016_03_01:189810002 SNOMEDCT_US_2016_03_01:70971005 UMLS_CUI:C0334485 disease_ontology DOID:1373 endometrial stromal nodule disease_ontology DOID:13730 malignant renovascular hypertension ICD9CM:405.0 SNOMEDCT_US_2016_03_01:194784007 SNOMEDCT_US_2016_03_01:49863005 SNOMEDCT_US_2016_03_01:89242004 UMLS_CUI:C0155617 disease_ontology DOID:13731 malignant secondary hypertension ICD9CM:360.02 MESH:D010202 SNOMEDCT_US_2016_03_01:33382000 UMLS_CUI:C0030332 disease_ontology DOID:13732 panophthalmitis A Pneumocystis jirovecii pneumonia that is_a disease associated with AIDS has_material_basis_in Pneumocystis jirovecii located_in lungs affecting individuals with HIV. disease_ontology DOID:13734 AIDS-related Pneumocystis jirovecii pneumonia true A Pneumocystis jirovecii pneumonia that is_a disease associated with AIDS has_material_basis_in Pneumocystis jirovecii located_in lungs affecting individuals with HIV. url:http://www.nlm.nih.gov/medlineplus/ency/article/000671.htm ICD10CM:N71.9 ICD9CM:615.9 SNOMEDCT_US_2016_03_01:198191007 SNOMEDCT_US_2016_03_01:198197006 SNOMEDCT_US_2016_03_01:28783002 UMLS_CUI:C0269047 Inflammatory disease of the uterus disease_ontology DOID:13736 uterine inflammatory disease Inflammatory disease of the uterus SNOMEDCT_2005_07_31:28783002 ICD10CM:K76.3 ICD9CM:573.4 SNOMEDCT_US_2016_03_01:17890003 UMLS_CUI:C0151731 infarct of liver disease_ontology DOID:13738 hepatic infarction ICD10CM:K76.1 ICD9CM:573.0 SNOMEDCT_US_2016_03_01:34736002 UMLS_CUI:C0156195 chronic passive congestion of liver chronic passive congestion of liver (disorder) disease_ontology DOID:13739 nutmeg liver chronic passive congestion of liver ICD9CM_2006:573.0 chronic passive congestion of liver (disorder) SNOMEDCT_2005_07_31:34736002 NCI:C5145 UMLS_CUI:C1336047 disease_ontology DOID:13742 neurofibroma of spinal cord A central nervous system lipoma that is characterized by abnormal fat accumulation in and around the spinal cord. NCI:C4619 SNOMEDCT_US_2016_03_01:189017000 UMLS_CUI:C0347446 Lipoma of spinal cord (disorder) disease_ontology DOID:13743 spinal cord lipoma A central nervous system lipoma that is characterized by abnormal fat accumulation in and around the spinal cord. url:http://neurosurgery.ucla.edu/spinal-cord-lipomas-lipomyelomeningoceles Lipoma of spinal cord (disorder) SNOMEDCT_2005_07_31:189017000 ICD10CM:P39.3 ICD9CM:771.82 SNOMEDCT_US_2016_03_01:12301009 UMLS_CUI:C0235815 urinary tract infection of newborn disease_ontology DOID:1375 neonatal urinary tract infectious disease urinary tract infection of newborn ICD9CM_2006:771.82 An African histoplasmosis that results_in inflammation located_in meninges, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and results_in_formation_of focal mass lesions, has_symptom headache, has_symptom confusion, has_symptom decreased level of consciousness, has_symptom cranial nerve deficits, and has_symptom seizures. Histoplasma duboisii with meningitis (disorder) disease_ontology DOID:13753 Histoplasma duboisii meningitis true An African histoplasmosis that results_in inflammation located_in meninges, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and results_in_formation_of focal mass lesions, has_symptom headache, has_symptom confusion, has_symptom decreased level of consciousness, has_symptom cranial nerve deficits, and has_symptom seizures. url:http://www.springerlink.com/content/x0p18824442np761/fulltext.pdf Histoplasma duboisii with meningitis (disorder) SNOMEDCT_2005_07_31:187048004 An American histoplasmosis that results_in inflammation located_in meninges, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of focal mass lesions, has_symptom headache, has_symptom confusion, has_symptom decreased level of consciousness, has_symptom cranial nerve deficits, and has_symptom seizures. Histoplasma capsulatum with meningitis (disorder) disease_ontology DOID:13754 Histoplasma capsulatum meningitis true An American histoplasmosis that results_in inflammation located_in meninges, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of focal mass lesions, has_symptom headache, has_symptom confusion, has_symptom decreased level of consciousness, has_symptom cranial nerve deficits, and has_symptom seizures. url:http://www.springerlink.com/content/x0p18824442np761/fulltext.pdf Histoplasma capsulatum with meningitis (disorder) SNOMEDCT_2005_07_31:187038001 An African histoplasmosis that results_in inflammation located_in pericardium, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom pleural effusions, has_symptom chest pain and has_symptom cough. Histoplasma duboisii with pericarditis (disorder) disease_ontology DOID:13755 Histoplasma duboisii pericarditis true An African histoplasmosis that results_in inflammation located_in pericardium, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom pleural effusions, has_symptom chest pain and has_symptom cough. url:http://emedicine.medscape.com/article/299054-overview url:http://www.ncbi.nlm.nih.gov/pubmed/16924162 Histoplasma duboisii with pericarditis (disorder) SNOMEDCT_2005_07_31:187050007 ICD10CM:H04.22 ICD9CM:375.22 SNOMEDCT_US_2016_03_01:85042000 UMLS_CUI:C0155234 disease_ontology DOID:13756 epiphora due to insufficient drainage ICD10CM:H04.2 ICD10CM:H04.20 ICD9CM:375.2 ICD9CM:375.20 MESH:D007766 NCI:C50552 SNOMEDCT_US_2016_03_01:155185001 SNOMEDCT_US_2016_03_01:193982009 SNOMEDCT_US_2016_03_01:193985006 SNOMEDCT_US_2016_03_01:267740009 SNOMEDCT_US_2016_03_01:418035005 SNOMEDCT_US_2016_03_01:49393005 UMLS_CUI:C0152227 Epiphora Excessive tear production Watering eye disease_ontology DOID:13757 excessive tearing Epiphora ICD9CM_2006:375.2 Excessive tear production SNOMEDCT_2005_07_31:49393005 Watering eye SNOMEDCT_2005_07_31:193982009 disease_ontology DOID:1376 perinatal infectious disease true A lice infestation that involves parasitic infestation by pubic lice Pthirus pubis, which are found in the pubic hair, less commonly in eyebrows, eyelashes, beard, mustache, armpit, perianal area, groin, trunk and scalp. The symptoms include itching in the pubic and groin area. Intense itching leads to scratching which can cause sores and secondary bacterial infection of the skin. ICD10CM:B85.3 ICD9CM:132.2 NCI:C35777 SNOMEDCT_US_2016_03_01:154420009 SNOMEDCT_US_2016_03_01:187210003 SNOMEDCT_US_2016_03_01:243683001 SNOMEDCT_US_2016_03_01:271545007 SNOMEDCT_US_2016_03_01:71011005 UMLS_CUI:C0030759 Infestation by Phthirus pubis (disorder) Pediculosis Pubis Pediculus pubis Phthiriasis pubis Phthirus pubis Phthirus pubis [pubic louse] Phthirus/pediculus pubis - pubic lice - crabs (& infestation) crabs disease_ontology DOID:13760 Pthirus pubis infestation A lice infestation that involves parasitic infestation by pubic lice Pthirus pubis, which are found in the pubic hair, less commonly in eyebrows, eyelashes, beard, mustache, armpit, perianal area, groin, trunk and scalp. The symptoms include itching in the pubic and groin area. Intense itching leads to scratching which can cause sores and secondary bacterial infection of the skin. url:http://www.cdc.gov/lice/pubic/disease.html Infestation by Phthirus pubis (disorder) SNOMEDCT_2005_07_31:71011005 Pediculosis Pubis NCI2004_11_17:C35777 Pediculus pubis MTHICD9_2006:132.2 Phthiriasis pubis SNOMEDCT_2005_07_31:271545007 Phthirus pubis SNOMEDCT_2005_07_31:243683001 Phthirus pubis [pubic louse] ICD9CM_2006:132.2 Phthirus/pediculus pubis - pubic lice - crabs (& infestation) SNOMEDCT_2005_07_31:154420009 Phthirus/pediculus pubis - pubic lice - crabs (& infestation) SNOMEDCT_2005_07_31:187210003 A trypanosomiasis that involves infection of cattle caused by Trypanosoma vivax, which is transmitted by tsetse flies. The symptoms include fever, anemia, abortion, loss of appetite, lethargy, and progressive weight loss. disease_ontology DOID:13762 bovine trypanosomiasis true A trypanosomiasis that involves infection of cattle caused by Trypanosoma vivax, which is transmitted by tsetse flies. The symptoms include fever, anemia, abortion, loss of appetite, lethargy, and progressive weight loss. url:http://www.ncbi.nlm.nih.gov/sites/entrez/16965857 A trypanosomiasis that is a chronic, sexually transmitted disease of horses and other equids, caused by the protozoan parasite Trypanosoma equiperdum, which is characterized by swelling of the genitalia, cutaneous plaques and neurological signs. Covering disease Infection by Trypanosoma equiperdum (disorder) disease_ontology DOID:13763 dourine true A trypanosomiasis that is a chronic, sexually transmitted disease of horses and other equids, caused by the protozoan parasite Trypanosoma equiperdum, which is characterized by swelling of the genitalia, cutaneous plaques and neurological signs. url:http://en.wikipedia.org/wiki/Dourine url:http://www.cfsph.iastate.edu/Factsheets/pdfs/dourine.pdf Covering disease MTH:NOCODE Infection by Trypanosoma equiperdum (disorder) SNOMEDCT_2005_07_31:15566009 A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Clonorchis sinensis. The symptoms include abdominal pain, nausea, diarrhea, and eosinophilia. In long-standing infections, cholangitis, cholelithiasis, pancreatitis, and cholangiocarcinoma can develop. ICD10CM:B66.1 ICD9CM:121.1 MESH:D003003 SNOMEDCT_US_2016_03_01:11938002 UMLS_CUI:C0009021 Oriental liver fluke disease disease_ontology DOID:13767 clonorchiasis A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Clonorchis sinensis. The symptoms include abdominal pain, nausea, diarrhea, and eosinophilia. In long-standing infections, cholangitis, cholelithiasis, pancreatitis, and cholangiocarcinoma can develop. url:http://en.wikipedia.org/wiki/Clonorchiasis url:http://www.dpd.cdc.gov/dpdx/HTML/Clonorchiasis.htm Oriental liver fluke disease MTHICD9_2006:121.1 A parasitic helminthiasis infectious disease that involves parasitic infection of the liver, pancreas and gall bladder by Opisthorchis viverrini or Opisthorchis felineus. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and chlolangiocarcinoma. ICD10CM:B66.0 ICD9CM:121.0 MESH:D009889 SNOMEDCT_US_2016_03_01:1059007 SNOMEDCT_US_2016_03_01:187124006 UMLS_CUI:C0029106 Infection by Opisthorchis disease_ontology DOID:13768 opisthorchiasis A parasitic helminthiasis infectious disease that involves parasitic infection of the liver, pancreas and gall bladder by Opisthorchis viverrini or Opisthorchis felineus. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and chlolangiocarcinoma. url:http://en.wikipedia.org/wiki/Opisthorchiasis url:http://www.dpd.cdc.gov/dpdx/HTML/Opisthorchiasis.htm Infection by Opisthorchis MTHICD9_2006:121.0 An adrenal cortical hypofunction that is characterized by insufficient steroid hormone production by the adrenal glands. ICD10CM:E27.1 MESH:D000224 NCI:C26689 OMIM:103230 OMIM:240200 SNOMEDCT_US_2016_03_01:111562000 SNOMEDCT_US_2016_03_01:154707007 SNOMEDCT_US_2016_03_01:267483004 SNOMEDCT_US_2016_03_01:363732003 SNOMEDCT_US_2016_03_01:367376006 SNOMEDCT_US_2016_03_01:373662000 SNOMEDCT_US_2016_03_01:68588005 UMLS_CUI:C0001403 Addison disease Addison disease, chronic adrenal insufficiency HYPOADRENOCORTICISM, FAMILIAL primary adrenocortical insufficiency primary hypoadrenalism disease_ontology DOID:13774 Addison's disease An adrenal cortical hypofunction that is characterized by insufficient steroid hormone production by the adrenal glands. url:http://en.wikipedia.org/wiki/Addison%27s_disease primary adrenocortical insufficiency SNOMEDCT_2005_07_31:373662000 primary hypoadrenalism SNOMEDCT_2005_07_31:68588005 A viral infectious disease that results_in benign epithelial tumors located_in skin of the sole or toes of the foot, has_material_basis_in human papillomavirus (types 1, 2, 4 or 63), has_symptom lesions that appear on the sole of the foot. ICD10CM:B07.0 ICD9CM:078.12 NCI:C26913 SNOMEDCT_US_2016_03_01:154363006 SNOMEDCT_US_2016_03_01:63440008 UMLS_CUI:C0042548 PLANTAR WART Verruca Plantaris Verruca plantaris Verruca plantaris (disorder) disease_ontology DOID:13775 plantar wart A viral infectious disease that results_in benign epithelial tumors located_in skin of the sole or toes of the foot, has_material_basis_in human papillomavirus (types 1, 2, 4 or 63), has_symptom lesions that appear on the sole of the foot. url:http://en.wikipedia.org/wiki/Plantar_wart PLANTAR WART MTH:587 Verruca Plantaris NCI2004_11_17:C26913 Verruca plantaris MTHICD9_2006:078.19 Verruca plantaris (disorder) SNOMEDCT_2005_07_31:63440008 An autosomal recessive disease that results_in skin squamous cell carcinoma located_in skin, associated with a high risk of carcinoma. It is characterized by abnormal susceptibility to human papillomaviruses of the skin and has_symptom lesions on the body. MESH:D004819 OMIM:226400 SNOMEDCT_US_2016_03_01:19138001 UMLS_CUI:C0014522 disease_ontology DOID:13777 OMIM mapping confirmed by DO. [SN]. epidermodysplasia verruciformis An autosomal recessive disease that results_in skin squamous cell carcinoma located_in skin, associated with a high risk of carcinoma. It is characterized by abnormal susceptibility to human papillomaviruses of the skin and has_symptom lesions on the body. url:http://emedicine.medscape.com/article/1131981-overview url:http://en.wikipedia.org/wiki/Epidermodysplasia_verruciformis A primary bacterial infectious disease that is a sexually transmitted infection located_in skin of the genitals, has_material_basis_in Haemophilus ducreyi, which is transmitted_by sexual contact. The infection has_symptom painful and soft ulcers. ICD10CM:A57 ICD9CM:099.0 MESH:D002602 SNOMEDCT_US_2016_03_01:154391003 SNOMEDCT_US_2016_03_01:186945008 SNOMEDCT_US_2016_03_01:266143009 SNOMEDCT_US_2016_03_01:266213004 SNOMEDCT_US_2016_03_01:87429008 UMLS_CUI:C0007947 (Chancroid [& bubo]) or (Ducrey's chancre) Ulcus molle, skin disease_ontology DOID:13778 chancroid A primary bacterial infectious disease that is a sexually transmitted infection located_in skin of the genitals, has_material_basis_in Haemophilus ducreyi, which is transmitted_by sexual contact. The infection has_symptom painful and soft ulcers. url:http://en.wikipedia.org/wiki/Chancroid url:http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001659/ (Chancroid [& bubo]) or (Ducrey's chancre) SNOMEDCT_2005_07_31:186945008 Ulcus molle, skin MTHICD9_2006:099.0 disease_ontology DOID:1378 uterine corpus mixed epithelial and mesenchymal tumor true ICD10CM:M35.7 ICD9CM:728.5 SNOMEDCT_US_2016_03_01:156723005 SNOMEDCT_US_2016_03_01:85551004 UMLS_CUI:C0152093 benign joint hypermobility hypermobility syndrome (disorder) disease_ontology DOID:13781 hypermobility syndrome benign joint hypermobility SNOMEDCT_2005_07_31:156723005 hypermobility syndrome (disorder) SNOMEDCT_2005_07_31:85551004 ICD10CM:H15.82 ICD9CM:379.14 SNOMEDCT_US_2016_03_01:21946002 UMLS_CUI:C0155362 Anterior staphyloma, localized disease_ontology DOID:13787 localized anterior staphyloma Anterior staphyloma, localized ICD9CM_2006:379.14 ICD10CM:H15.81 ICD9CM:379.13 SNOMEDCT_US_2016_03_01:82146006 UMLS_CUI:C0155361 disease_ontology DOID:13788 equatorial staphyloma ICD10CM:H15.83 ICD9CM:379.12 SNOMEDCT_US_2016_03_01:87819007 UMLS_CUI:C0155360 disease_ontology DOID:13789 staphyloma posticum ICD10CM:H73.0 ICD10CM:H73.00 ICD10CM:H73.009 ICD9CM:384.00 SNOMEDCT_US_2016_03_01:194312004 SNOMEDCT_US_2016_03_01:194313009 SNOMEDCT_US_2016_03_01:297009 UMLS_CUI:C0155460 acute myringitis disease_ontology DOID:13790 acute tympanitis acute myringitis SNOMEDCT_2005_07_31:297009 A tympanic membrane disease that is characterized by blisters on the eardrum resulting from infection. ICD10CM:H73.01 ICD9CM:384.01 SNOMEDCT_US_2016_03_01:33528003 UMLS_CUI:C0155461 Bullous myringitis disease_ontology DOID:13791 myringitis bullosa hemorrhagica A tympanic membrane disease that is characterized by blisters on the eardrum resulting from infection. url:https://www.nlm.nih.gov/medlineplus/ency/article/001369.htm Bullous myringitis ICD9CM_2006:384.01 ICD10CM:H15.01 ICD9CM:379.03 SNOMEDCT_US_2016_03_01:63454000 UMLS_CUI:C0155353 disease_ontology DOID:13794 anterior scleritis ICD10CM:C50.11 ICD9CM:174.1 SNOMEDCT_US_2016_03_01:188151006 SNOMEDCT_US_2016_03_01:93745008 UMLS_CUI:C0153549 malignant neoplasm of central part of female breast (disorder) malignant neoplasm of central portion of female breast disease_ontology DOID:13799 female breast central part cancer malignant neoplasm of central part of female breast (disorder) SNOMEDCT_2005_07_31:188151006 malignant neoplasm of central portion of female breast ICD9CM_2006:174.1 malignant neoplasm of central portion of female breast SNOMEDCT_2005_07_31:93745008 NCI:C40242 UMLS_CUI:C1519931 disease_ontology DOID:138 vaginal squamous tumor A uterine cancer that is located_in tissues lining the uterus. DOID:5654 EFO:0004230 ICD10CM:C54.1 KEGG:05213 MESH:D016889 NCI:C27815 NCI:C3012 OMIM:608089 SNOMEDCT_US_2016_03_01:123844007 UMLS_CUI:C0007103 UMLS_CUI:C0014170 endometrial Ca endometrial neoplasm malignant endometrial neoplasm malignant neoplasm of endometrium neoplasm of endometrium (disorder) primary malignant neoplasm of endometrium tumor of Endometrium disease_ontology DOID:1380 endometrial cancer A uterine cancer that is located_in tissues lining the uterus. url:http://www.cancer.gov/dictionary?CdrID=444987 endometrial Ca SNOMEDCT_2005_07_31:154526001 SNOMEDCT_2005_07_31:269600001 malignant endometrial neoplasm NCI2004_11_17:C27815 neoplasm of endometrium (disorder) SNOMEDCT_2005_07_31:123844007 primary malignant neoplasm of endometrium SNOMEDCT_2005_07_31:93781006 tumor of Endometrium NCI2004_11_17:C3012 A commensal bacterial infectious disease that results_in inflammation, located_in conjunctiva of the eye, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact. The infection has_symptom swollen conjunctiva and eyelids and has_symptom discharge of pus and mucus. ICD10CM:A74.0 ICD9CM:077.0 MESH:D003235 SNOMEDCT_US_2016_03_01:111840005 SNOMEDCT_US_2016_03_01:154370006 SNOMEDCT_US_2016_03_01:186674002 SNOMEDCT_US_2016_03_01:186733005 SNOMEDCT_US_2016_03_01:231861005 SNOMEDCT_US_2016_03_01:266109000 SNOMEDCT_US_2016_03_01:266202002 SNOMEDCT_US_2016_03_01:56009001 UMLS_CUI:C0009770 Chlamydial conjunctivitis Inclusion blennorrhoea adult inclusion conjunctivitis inclusion blenorrhea disease_ontology Paratrachoma DOID:13800 inclusion conjunctivitis A commensal bacterial infectious disease that results_in inflammation, located_in conjunctiva of the eye, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact. The infection has_symptom swollen conjunctiva and eyelids and has_symptom discharge of pus and mucus. url:https://www.aarphealthcare.com/galecontent/inclusion-conjunctivitis-1 Chlamydial conjunctivitis SNOMEDCT_2005_07_31:186733005 Chlamydial conjunctivitis SNOMEDCT_2005_07_31:266202002 Inclusion blennorrhoea SNOMEDCT_2005_07_31:56009001 inclusion blenorrhea CSP2005:1114-8463 Paratrachoma MTHICD9_2006:077.0 A viral infectious disease that results_in infection located_in pharynx or located_in conjunctiva, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7, which are transmitted_by droplet spread of respiratory secretions or transmitted_by fomites. The infection has_symptom fever, has_symptom lymphadenopathy of the neck, and has_symptom headache. ICD9CM:077.2 MESH:D000258 NCI:C34924 SNOMEDCT_US_2016_03_01:70385007 UMLS_CUI:C0031351 Adenoviral pharyngoconjunctivitis (disorder) Pharyngoconjunctival Fever Pharyngoconjunctival fever pharyngo-conjunctival fever disease_ontology DOID:13801 pharyngoconjunctival fever A viral infectious disease that results_in infection located_in pharynx or located_in conjunctiva, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7, which are transmitted_by droplet spread of respiratory secretions or transmitted_by fomites. The infection has_symptom fever, has_symptom lymphadenopathy of the neck, and has_symptom headache. url:http://emedicine.medscape.com/article/1192323-overview url:http://en.wikipedia.org/wiki/Pharyngoconjunctival_fever Adenoviral pharyngoconjunctivitis (disorder) SNOMEDCT_2005_07_31:70385007 Pharyngoconjunctival Fever NCI2004_11_17:C34924 Pharyngoconjunctival fever ICD9CM_2006:077.2 ICD10CM:E78.4 MESH:D006950 OMIM:144250 SNOMEDCT_US_2016_03_01:154742006 SNOMEDCT_US_2016_03_01:190780005 SNOMEDCT_US_2016_03_01:238040008 SNOMEDCT_US_2016_03_01:299465007 SNOMEDCT_US_2016_03_01:48190005 UMLS_CUI:C0020474 familial combined hyperlipidemia (disorder) familial combined hyperlipidemia (disorder) [Ambiguous] familial multiple lipoprotein-type hyperlipidemia (disorder) hyperbetalipoproteinemia with prebetalipoproteinemia mixed hyperlipidaemia mixed hyperlipidemia mixed hyperlipidemia (disorder) type IIb hyperlipoproteinemia disease_ontology DOID:13809 OMIM mapping confirmed by DO. [SN]. familial combined hyperlipidemia familial combined hyperlipidemia (disorder) SNOMEDCT_2005_07_31:238040008 familial combined hyperlipidemia (disorder) [Ambiguous] SNOMEDCT_2005_07_31:48190005 familial multiple lipoprotein-type hyperlipidemia (disorder) SNOMEDCT_2005_07_31:299465007 hyperbetalipoproteinemia with prebetalipoproteinemia MTHICD9_2006:272.2 mixed hyperlipidaemia SNOMEDCT_2005_07_31:154742006 mixed hyperlipidaemia SNOMEDCT_2005_07_31:190780005 mixed hyperlipidemia ICD9CM_2006:272.2 mixed hyperlipidemia NCI2004_11_17:C34821 mixed hyperlipidemia (disorder) SNOMEDCT_2005_07_31:267434003 type IIb hyperlipoproteinemia NCI2004_11_17:C34708 ICD10CM:L75.2 ICD9CM:705.82 MESH:D005588 NCI:C84716 SNOMEDCT_US_2016_03_01:254682006 SNOMEDCT_US_2016_03_01:65038009 UMLS_CUI:C0016632 Fox Fordyce disease disease_ontology DOID:1381 Fox-Fordyce disease A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease. ICD10CM:E78.0 MESH:D006938 NCI:C34704 OMIM:143890 ORDO:406 SNOMEDCT_US_2016_03_01:190772003 SNOMEDCT_US_2016_03_01:190773008 SNOMEDCT_US_2016_03_01:190775001 SNOMEDCT_US_2016_03_01:190776000 SNOMEDCT_US_2016_03_01:31654005 SNOMEDCT_US_2016_03_01:389985001 SNOMEDCT_US_2016_03_01:398036000 UMLS_CUI:C0020445 Fredrickson type IIa hyperlipoproteinemia Fredrickson type IIa lipidaemia familial hyperbetalipoproteinaemia familial hypercholesteremia hyperbetalipoproteinemia type II hyperlipidemia disease_ontology DOID:13810 Xref MGI. OMIM mapping confirmed by DO. [SN]. familial hypercholesterolemia A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease. url:http://en.wikipedia.org/wiki/Familial_hypercholesterolemia Fredrickson type IIa hyperlipoproteinemia MTHICD9_2006:272.0 Fredrickson type IIa lipidaemia SNOMEDCT_2005_07_31:190772003 familial hyperbetalipoproteinaemia SNOMEDCT_2005_07_31:190776000 familial hyperbetalipoproteinaemia SNOMEDCT_2005_07_31:389985001 familial hypercholesteremia CSP2005:1849-4634 type II hyperlipidemia NCI2004_11_17:C34704 ICD9CM:621.1 SNOMEDCT_US_2016_03_01:198315005 SNOMEDCT_US_2016_03_01:53518003 UMLS_CUI:C0156370 disease_ontology DOID:13811 chronic subinvolution of uterus SNOMEDCT_US_2016_03_01:301789000 SNOMEDCT_US_2016_03_01:31107007 SNOMEDCT_US_2016_03_01:361115000 SNOMEDCT_US_2016_03_01:367435001 UMLS_CUI:C0241593 Band of uterus Intrauterine adhesions Intrauterine synechiae disease_ontology DOID:13812 adhesions of uterus Band of uterus MTHICD9_2006:621.5 Intrauterine adhesions SNOMEDCT_2005_07_31:361115000 Intrauterine synechiae ICD9CM_2006:621.5 ICD10CM:G52.3 ICD9CM:352.5 MESH:D020437 NCI:C26954 SNOMEDCT_US_2016_03_01:24777009 UMLS_CUI:C0152181 disorder of 12th nerve disorder of XII nerve disorder of hypoglossal [12th] nerve disorder of hypoglossal nerve (disorder) disease_ontology DOID:13814 hypoglossal nerve disease disorder of 12th nerve MTHICD9_2006:352.5 disorder of XII nerve NCI2004_11_17:C26954 disorder of hypoglossal [12th] nerve ICD9CM_2006:352.5 disorder of hypoglossal nerve (disorder) SNOMEDCT_2005_07_31:24777009 disease_ontology DOID:13817 single episode manic disease moderate degree true disease_ontology DOID:13818 single episode manic disorder mild degree true A commensal bacterial infectious disease that results_in infection located_in lymph nodes, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact, and transmitted_by fomites. The infection has_symptom inguinal lymphadenitis, has_symptom abscesses in the groin area, and has_symptom lymphangitis. ICD10CM:A55 ICD9CM:099.1 MESH:D008219 NCI:C26822 SNOMEDCT_US_2016_03_01:154391003 SNOMEDCT_US_2016_03_01:186946009 SNOMEDCT_US_2016_03_01:266213004 SNOMEDCT_US_2016_03_01:89427004 UMLS_CUI:C0024286 Climatic or tropical bubo Durand-Nicolas-Favre disease Lymphogranuloma inguinale Poradenitis inguinale Strumous bubo disease_ontology DOID:13819 lymphogranuloma venereum A commensal bacterial infectious disease that results_in infection located_in lymph nodes, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact, and transmitted_by fomites. The infection has_symptom inguinal lymphadenitis, has_symptom abscesses in the groin area, and has_symptom lymphangitis. url:http://emedicine.medscape.com/article/783971-overview#a0104 url:http://en.wikipedia.org/wiki/Lymphogranuloma_venereum Climatic or tropical bubo MTHICD9_2006:099.1 ICD10CM:L74.3 MESH:D008883 NCI:C34820 SNOMEDCT_US_2016_03_01:201196009 SNOMEDCT_US_2016_03_01:201411009 SNOMEDCT_US_2016_03_01:63951004 UMLS_CUI:C0026113 disease_ontology DOID:1382 miliaria Congenital pneumonia (disorder) Congenital pneumonia NOS (disorder) disease_ontology DOID:13820 congenital pneumonia true Congenital pneumonia (disorder) SNOMEDCT_2005_07_31:78895009 Congenital pneumonia NOS (disorder) SNOMEDCT_2005_07_31:206291009 ICD9CM:366.42 NCI:C35068 SNOMEDCT_US_2016_03_01:193607003 SNOMEDCT_US_2016_03_01:68216000 UMLS_CUI:C0039613 Hypocalcaemic cataract disease_ontology DOID:13822 tetanic cataract Hypocalcaemic cataract SNOMEDCT_2005_07_31:68216000 ICD9CM:373.6 SNOMEDCT_US_2016_03_01:193922006 UMLS_CUI:C0155183 Parasitic infestation of eyelid disease_ontology DOID:13823 parasitic eyelid infestation Parasitic infestation of eyelid ICD9CM_2006:373.6 ICD10CM:H01.02 ICD9CM:373.02 SNOMEDCT_US_2016_03_01:58912008 UMLS_CUI:C0155174 disease_ontology DOID:13825 squamous blepharitis ICD10CM:L74 ICD10CM:L74.9 ICD9CM:705 ICD9CM:705.9 MESH:D013543 SNOMEDCT_US_2016_03_01:156413000 SNOMEDCT_US_2016_03_01:201209003 SNOMEDCT_US_2016_03_01:88232005 UMLS_CUI:C0038986 disease_ontology DOID:1383 sweat gland disease ICD10CM:Q25.0 ICD9CM:747.0 MESH:D004374 NCI:C84492 OMIM:607411 SNOMEDCT_US_2016_03_01:156928009 SNOMEDCT_US_2016_03_01:83330001 UMLS_CUI:C0013274 Patent ductus Botalli disease_ontology ductus arteriosus, Patent DOID:13832 OMIM mapping confirmed by DO. [SN]. patent ductus arteriosus Patent ductus Botalli MTHICD9_2006:747.0 disease_ontology DOID:13837 convergence excess or spasm true ICD10CM:G20-G26 ICD10CM:G25.9 ICD9CM:333.90 SNOMEDCT_US_2016_03_01:192866001 SNOMEDCT_US_2016_03_01:194467002 UMLS_CUI:C0477355 disease_ontology DOID:13839 extrapyramidal and movement disease DOID:12004 Chlamydial infection of lower genitourinary tract (disorder) Chlamydial urethritis (disorder) NGU due to Chlamydia trachomatis Nongonococcal urethritis due to Chlamydia trachomatis (disorder) disease_ontology DOID:1384 Chlamydia trachomatis urethritis true Chlamydial infection of lower genitourinary tract (disorder) SNOMEDCT_2005_07_31:186729003 Chlamydial urethritis (disorder) SNOMEDCT_2005_07_31:236683007 NGU due to Chlamydia trachomatis MTHICD9_2006:099.41 Nongonococcal urethritis due to Chlamydia trachomatis (disorder) SNOMEDCT_2005_07_31:246832008 Suppressed lactation - delivered (disorder) Suppressed lactation, with delivery, with or without mention of antepartum condition disease_ontology DOID:13844 suppressed lactation - delivered true Suppressed lactation - delivered (disorder) SNOMEDCT_2005_07_31:200439000 Suppressed lactation, with delivery, with or without mention of antepartum condition ICD9CM_2006:676.51 disease_ontology DOID:13845 suppressed lactation true Hallux varus (acquired) Hallux varus - acquired acquired hallux varus (disorder) disease_ontology DOID:13850 acquired hallux varus true Hallux varus (acquired) ICD9CM_2006:735.1 Hallux varus - acquired SNOMEDCT_2005_07_31:156854000 acquired hallux varus (disorder) SNOMEDCT_2005_07_31:16123003 A hypolipoproteinemia that is characterized by an inablility to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_physical_basis_in an autosomal recessive disorder of lipid metabolism that has material basis in mutation in the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). ICD10CM:E78.6 MESH:D000012 NCI:C84525 OMIM:200100 SNOMEDCT_US_2016_03_01:190787008 SNOMEDCT_US_2016_03_01:83123000 UMLS_CUI:C0000744 familial hypobetalipoproteinemia microsomal triglyceride transfer protein deficiency disease disease_ontology DOID:1386 OMIM mapping confirmed by DO. [SN]. abetalipoproteinemia A hypolipoproteinemia that is characterized by an inablility to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_physical_basis_in an autosomal recessive disorder of lipid metabolism that has material basis in mutation in the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). url:http://en.wikipedia.org/wiki/Abetalipoproteinemia url:http://rarediseases.info.nih.gov/gard/5/abetalipoproteinemia/resources/1 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=14 familial hypobetalipoproteinemia MTHICD9_2006:272.5 microsomal triglyceride transfer protein deficiency disease CSP2005:1849-5137 ICD10CM:H15.04 ICD9CM:379.05 SNOMEDCT_US_2016_03_01:42574005 UMLS_CUI:C0155355 Scleritis with corneal involvement disease_ontology DOID:13861 scleroperikeratitis Scleritis with corneal involvement ICD9CM_2006:379.05 ICD10CM:H40.21 ICD9CM:365.22 SNOMEDCT_US_2016_03_01:30041005 UMLS_CUI:C0154946 acute angle-closure glaucoma disease_ontology DOID:13862 acute closed-angle glaucoma acute angle-closure glaucoma ICD9CM_2006:365.22 ICD10CM:H49.1 ICD9CM:378.53 MESH:D020432 NCI:C78395 SNOMEDCT_US_2016_03_01:14904006 SNOMEDCT_US_2016_03_01:20610004 SNOMEDCT_US_2016_03_01:230532006 SNOMEDCT_US_2016_03_01:246781001 SNOMEDCT_US_2016_03_01:67883005 SNOMEDCT_US_2016_03_01:6845000 UMLS_CUI:C0271375 UMLS_CUI:C0423092 UMLS_CUI:C0751939 Superior oblique muscle innervation disorder Trochlear nerve disorder, NOS disorder of trochlear nerve disease_ontology DOID:13864 trochlear nerve disease Superior oblique muscle innervation disorder SNOMEDCT_2005_07_31:6845000 Trochlear nerve disorder, NOS SNOMEDCT_2005_07_31:14904006 disorder of trochlear nerve SNOMEDCT_2005_07_31:20610004 disorder of trochlear nerve SNOMEDCT_2005_07_31:230532006 MESH:D005156 SNOMEDCT_US_2016_03_01:4151000119102 UMLS_CUI:C0015467 disease_ontology DOID:13865 facial neuralgia ICD10CM:G52.7 ICD9CM:352.6 SNOMEDCT_US_2016_03_01:193100000 SNOMEDCT_US_2016_03_01:193103003 SNOMEDCT_US_2016_03_01:78152008 UMLS_CUI:C0154733 Multiple cranial nerve palsies Multiple cranial nerve palsies (disorder) Multiple cranial nerve palsies NOS (disorder) Multiple cranial nerve palsy (disorder) disease_ontology DOID:13866 multiple cranial nerve palsy Multiple cranial nerve palsies ICD9CM_2006:352.6 Multiple cranial nerve palsies (disorder) SNOMEDCT_2005_07_31:193100000 Multiple cranial nerve palsies NOS (disorder) SNOMEDCT_2005_07_31:193103003 Multiple cranial nerve palsy (disorder) SNOMEDCT_2005_07_31:78152008 A labyrinthitis which is an infectious inflammatory disease of a circumscribed area of either the vestibular or the cochlear portion of the labyrinth, or of both together. This is caused by a chronic suppurative otitis media, mastoiditis, or cholesteatoma. ICD9CM:386.32 SNOMEDCT_US_2016_03_01:194364005 SNOMEDCT_US_2016_03_01:61794006 UMLS_CUI:C0155505 Circumscribed labyrinthitis Circumscribed labyrinthitis (disorder) disease_ontology DOID:13867 focal labyrinthitis A labyrinthitis which is an infectious inflammatory disease of a circumscribed area of either the vestibular or the cochlear portion of the labyrinth, or of both together. This is caused by a chronic suppurative otitis media, mastoiditis, or cholesteatoma. url:http://books.google.com/books?id=K6IRAAAAYAAJ&pg=PA934&lpg#v=onepage&q=&f=false Circumscribed labyrinthitis ICD9CM_2006:386.32 Circumscribed labyrinthitis SNOMEDCT_2005_07_31:194364005 Circumscribed labyrinthitis (disorder) SNOMEDCT_2005_07_31:61794006 ICD10CM:F52.0 ICD9CM:302.71 MESH:D020018 NCI:C94337 SNOMEDCT_US_2016_03_01:112096004 SNOMEDCT_US_2016_03_01:192464008 SNOMEDCT_US_2016_03_01:270903007 SNOMEDCT_US_2016_03_01:78889008 UMLS_CUI:C0020594 Lack or loss of sexual desire disease_ontology DOID:13868 hypoactive sexual desire disorder Lack or loss of sexual desire SNOMEDCT_2005_07_31:192464008 disease_ontology DOID:13869 psychosexual dysfunction with male orgasmic disease true ICD10CM:E78.6 ICD9CM:272.5 MESH:D007009 SNOMEDCT_US_2016_03_01:190783007 SNOMEDCT_US_2016_03_01:190788003 SNOMEDCT_US_2016_03_01:267436001 SNOMEDCT_US_2016_03_01:363140000 UMLS_CUI:C0020623 Hypolipoproteinaemia (disorder) disease_ontology Lipoprotein deficiencies DOID:1387 hypolipoproteinemia Hypolipoproteinaemia (disorder) SNOMEDCT_2005_07_31:363140000 Lipoprotein deficiencies ICD9CM_2006:272.5 ICD10CM:E78.6 MESH:D013631 NCI:C85182 OMIM:205400 SNOMEDCT_US_2016_03_01:15346004 SNOMEDCT_US_2016_03_01:190783007 UMLS_CUI:C0039292 familial alpha-lipoprotein deficiency familial high density lipoprotein deficiency familial hypoalphalipoproteinemia disease_ontology DOID:1388 OMIM mapping confirmed by DO. [LS]. Tangier disease familial high density lipoprotein deficiency CSP2005:1849-5194 familial hypoalphalipoproteinemia SNOMEDCT_2005_07_31:15346004 ICD10CM:I49.5 MESH:D012804 NCI:C62244 OMIM:163800 OMIM:608567 OMIM:614090 ORDO:166282 SNOMEDCT_US_2016_03_01:155373001 SNOMEDCT_US_2016_03_01:266307005 SNOMEDCT_US_2016_03_01:36083008 UMLS_CUI:C0037052 sinus node infection disease_ontology DOID:13884 Xref MGI. sick sinus syndrome Residual schizophrenia, chronic state chronic residual schizophrenia (disorder) disease_ontology DOID:13887 residual chronic schizophrenia true Residual schizophrenia, chronic state ICD9CM_2006:295.62 chronic residual schizophrenia (disorder) SNOMEDCT_2005_07_31:71103003 A peripheral system disease that is characterized by is damage affecting peripheral nerves (peripheral neuropathy) in roughly the same areas on both sides of the body, featuring weakness, numbness, pins-and-needles, and burning pain. ICD10CM:A69.22 ICD10CM:G62.9 MESH:D011115 NCI:C26951 SNOMEDCT_US_2016_03_01:155080009 SNOMEDCT_US_2016_03_01:193166009 SNOMEDCT_US_2016_03_01:193204000 SNOMEDCT_US_2016_03_01:194530007 SNOMEDCT_US_2016_03_01:267706009 SNOMEDCT_US_2016_03_01:307326004 SNOMEDCT_US_2016_03_01:42345000 UMLS_CUI:C0152025 disease_ontology DOID:1389 polyneuropathy A peripheral system disease that is characterized by is damage affecting peripheral nerves (peripheral neuropathy) in roughly the same areas on both sides of the body, featuring weakness, numbness, pins-and-needles, and burning pain. url:https://en.wikipedia.org/wiki/Polyneuropathy url:https://www.virginiamason.org/polyneuropathy An extrinsic allergic alveolitis which is caused by inhalation of antigens from avian excreta. The disease has_symptom abrupt onset of dyspnea, has_symptom cough, has_symptom malaise, and has_symptom fever, after exposure to antigen. ICD10CM:J67.2 ICD9CM:495.2 MESH:D001716 NCI:C34425 SNOMEDCT_US_2016_03_01:195987000 SNOMEDCT_US_2016_03_01:69339004 UMLS_CUI:C0005592 Avian hypersensitivity Pneumonitis Bird-fancier's lung Bird-fanciers' lung bird breeder's lung bird fancier lung pigeon breeder's lung poultry worker's lung disease_ontology DOID:13891 bird fancier's lung An extrinsic allergic alveolitis which is caused by inhalation of antigens from avian excreta. The disease has_symptom abrupt onset of dyspnea, has_symptom cough, has_symptom malaise, and has_symptom fever, after exposure to antigen. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1841781/pdf/brmedj02140-0025.pdf Avian hypersensitivity Pneumonitis NCI2004_11_17:C34425 Bird-fancier's lung SNOMEDCT_2005_07_31:195987000 Bird-fanciers' lung ICD9CM_2006:495.2 bird breeder's lung CSP2005:2596-6673 MESH:D010212 NCI:C3712 SNOMEDCT_US_2016_03_01:63451008 UMLS_CUI:C0205874 Epidermoid papilloma squamous cell papilloma (morphologic abnormality) disease_ontology DOID:139 squamous cell papilloma Epidermoid papilloma NCI2004_11_17:C3712 squamous cell papilloma (morphologic abnormality) SNOMEDCT_2005_07_31:63451008 A hypolipoproteinemia characterized by permanently low levels of apolipoprotein B and LDL cholesterol resulting from an impaired ability to absorb and transport fats. MESH:D006995 SNOMEDCT_US_2016_03_01:190786004 UMLS_CUI:C0020597 Hypo-beta-lipoproteinemia (disorder) disease_ontology DOID:1390 hypobetalipoproteinemia A hypolipoproteinemia characterized by permanently low levels of apolipoprotein B and LDL cholesterol resulting from an impaired ability to absorb and transport fats. url:https://en.wikipedia.org/wiki/Hypobetalipoproteinemia url:https://ghr.nlm.nih.gov/condition/familial-hypobetalipoproteinemia url:https://www.ncbi.nlm.nih.gov/pubmed/15818469 Hypo-beta-lipoproteinemia (disorder) SNOMEDCT_2005_07_31:190786004 A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Trichosporon beigelii. Infected hairs develop soft greyish-white nodules along the shaft. ICD10CM:B36.2 ICD9CM:111.2 MESH:D010854 SNOMEDCT_US_2016_03_01:154408001 SNOMEDCT_US_2016_03_01:266218008 SNOMEDCT_US_2016_03_01:35586003 SNOMEDCT_US_2016_03_01:402135006 UMLS_CUI:C0031898 UMLS_CUI:C0040249 Tinea blanca White piedra (disorder) disease_ontology DOID:13902 Adding additional UMLS CUI. UMLS has piedra, black piedra and white piedra combined. DO has these as distinct diseases. white piedra A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Trichosporon beigelii. Infected hairs develop soft greyish-white nodules along the shaft. url:http://mycology.adelaide.edu.au/Mycoses/Superficial/White_piedra/ Tinea blanca ICD9CM_2006:111.2 White piedra (disorder) SNOMEDCT_2005_07_31:35586003 malignant Pleural Effusion malignant pleural effusion neoplastic pleural effusion (disorder) disease_ontology DOID:13906 malignant pleural effusion true malignant Pleural Effusion NCI2004_11_17:C9432 malignant pleural effusion SNOMEDCT_2005_07_31:196095009 neoplastic pleural effusion (disorder) SNOMEDCT_2005_07_31:83270006 ICD10CM:H53.53 ICD9CM:368.52 MESH:D003117 OMIM:303800 ORDO:319698 SNOMEDCT_US_2016_03_01:246674000 SNOMEDCT_US_2016_03_01:77479002 UMLS_CUI:C0155016 Deutan defect Deuteranopia Reduced red-green discrimination disease_ontology DOID:13909 Xref MGI. red-green color blindness Deutan defect ICD9CM_2006:368.52 Deuteranopia MTHICD9_2006:368.52 Reduced red-green discrimination SNOMEDCT_2005_07_31:246674000 ICD10CM:E78.6 MESH:D007863 NCI:C84813 OMIM:245900 SNOMEDCT_US_2016_03_01:238091006 SNOMEDCT_US_2016_03_01:49227001 UMLS_CUI:C0023195 LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY lecithin acyltransferase deficiency disease_ontology DOID:1391 OMIM mapping confirmed by DO. [SN]. Norum disease lecithin acyltransferase deficiency CSP2005:1849-5422 ICD10CM:H53.54 ICD9CM:368.51 MESH:D003117 OMIM:303900 SNOMEDCT_US_2016_03_01:51445007 UMLS_CUI:C0155015 Protan defect Protanopia disease_ontology DOID:13910 red color blindness Protan defect ICD9CM_2006:368.51 Protanopia MTHICD9_2006:368.51 A color blindness that is characterized by a congenital cone color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels has_material_basis_in autosomal recessive inheritance. ICD10CM:H53.51 ICD9CM:368.54 MESH:D003117 NCI:C84528 ORDO:49382 SNOMEDCT_US_2016_03_01:56852002 UMLS_CUI:C0152200 ACHM Monochromatism disease_ontology DOID:13911 achromatopsia A color blindness that is characterized by a congenital cone color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels has_material_basis_in autosomal recessive inheritance. url:http://en.wikipedia.org/wiki/Achromatopsia url:http://www.ncbi.nlm.nih.gov/books/NBK1418/ url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=49382 url:http://www.sciencedirect.com/science/article/pii/S0161642009010008 Monochromatism MTHICD9_2006:368.54 ICD10CM:H53.52 ICD9CM:368.55 MESH:D003117 NCI:C118712 SNOMEDCT_US_2016_03_01:71676008 UMLS_CUI:C0155018 acquired color vision deficiencies acquired color vision deficiency disease_ontology DOID:13912 acquired color blindness acquired color vision deficiencies ICD9CM_2006:368.55 acquired color vision deficiency SNOMEDCT_2005_07_31:71676008 ICD9CM:353.1 SNOMEDCT_US_2016_03_01:4062006 UMLS_CUI:C0154735 Lumbosacral plexus lesion (disorder) Lumbosacral plexus lesions disease_ontology DOID:13913 lumbosacral plexus lesion Lumbosacral plexus lesion (disorder) SNOMEDCT_2005_07_31:4062006 Lumbosacral plexus lesions ICD9CM_2006:353.1 A somatoform disorder that involves persistently complaints of varied physical symptoms that have no identifiable physical origin. ICD10CM:F45.0 ICD9CM:300.81 MESH:D013001 SNOMEDCT_US_2016_03_01:154892001 SNOMEDCT_US_2016_03_01:191743005 SNOMEDCT_US_2016_03_01:192431008 SNOMEDCT_US_2016_03_01:397795007 SNOMEDCT_US_2016_03_01:397826007 SNOMEDCT_US_2016_03_01:397923000 SNOMEDCT_US_2016_03_01:60368009 SNOMEDCT_US_2016_03_01:9514005 UMLS_CUI:C0520482 Briquet's disorder Somatisation disorder disease_ontology Polysomatising disorder DOID:13918 somatization disorder A somatoform disorder that involves persistently complaints of varied physical symptoms that have no identifiable physical origin. url:http://en.wikipedia.org/wiki/Somatization_disorder Briquet's disorder MTHICD9_2006:300.81 Somatisation disorder SNOMEDCT_2005_07_31:192431008 Polysomatising disorder SNOMEDCT_2005_07_31:397795007 ICD10CM:H52.21 ICD9CM:367.22 SNOMEDCT_US_2016_03_01:47099006 UMLS_CUI:C0152194 disease_ontology DOID:13919 irregular astigmatism ICD9CM:377.24 MESH:C562401 OMIM:177800 SNOMEDCT_US_2016_03_01:57138009 UMLS_CUI:C0155300 disease_ontology DOID:1392 OMIM mapping confirmed by DO. [SN]. pseudopapilledema NCI:C27106 SNOMEDCT_US_2016_03_01:235601001 UMLS_CUI:C0341108 disease_ontology DOID:13921 bacterial esophagitis An esophagitis characterized by inflammation involving eosinophils located_in esophagus. EFO:0004232 ICD10CM:K20.0 ICD9CM:530.13 MESH:D057765 NCI:C27105 OMIM:610247 OMIM:613412 ORDO:73247 SNOMEDCT_US_2016_03_01:235599003 UMLS_CUI:C0341106 disease_ontology DOID:13922 Xref MGI. OMIM mapping confirmed by DO. [SN]. eosinophilic esophagitis An esophagitis characterized by inflammation involving eosinophils located_in esophagus. url:http://en.wikipedia.org/wiki/Eosinophilic_esophagitis acute paranoid reaction disease_ontology DOID:13923 acute psychogenic paranoid psychosis true acute paranoid reaction SNOMEDCT_2005_07_31:191679009 DOID:2274 ICD10CM:A69.1 ICD9CM:101 MESH:D005892 NCI:C34637 SNOMEDCT_US_2016_03_01:154391003 SNOMEDCT_US_2016_03_01:171847006 SNOMEDCT_US_2016_03_01:172697005 SNOMEDCT_US_2016_03_01:173599005 SNOMEDCT_US_2016_03_01:186960006 SNOMEDCT_US_2016_03_01:186961005 SNOMEDCT_US_2016_03_01:186962003 SNOMEDCT_US_2016_03_01:186963008 SNOMEDCT_US_2016_03_01:186964002 SNOMEDCT_US_2016_03_01:240675006 SNOMEDCT_US_2016_03_01:266145002 SNOMEDCT_US_2016_03_01:266146001 SNOMEDCT_US_2016_03_01:266213004 SNOMEDCT_US_2016_03_01:278519005 SNOMEDCT_US_2016_03_01:30896000 SNOMEDCT_US_2016_03_01:399050001 SNOMEDCT_US_2016_03_01:707792000 UMLS_CUI:C0017575 UMLS_CUI:C1527368 (Vincent's angina) or (trench mouth) ANUG Angina - Vincents Trench mouth Vincent angina Vincent's Angina Vincent's angina Vincent's angina - pharyngitis (disorder) Vincent's angina NOS Vincent's disease Vincent's infection, any site acute necrotising ulcerative gingivitis acute necrotising ulcerative gingivitis [Ambiguous] acute necrotising ulcerative gingivostomatitis acute necrotising ulcerative gingivostomatitis [Ambiguous] acute necrotizing ulcerative gingivitis acute necrotizing ulcerative gingivostomatitis (disorder) acute ulceromembranous gingivitis early acute necrotising gingivitis disease_ontology DOID:13924 necrotizing ulcerative gingivitis (Vincent's angina) or (trench mouth) SNOMEDCT_2005_07_31:186960006 Angina - Vincents SNOMEDCT_2005_07_31:154391003 SNOMEDCT_2005_07_31:266213004 Trench mouth SNOMEDCT_2005_07_31:154391003 Trench mouth SNOMEDCT_2005_07_31:266213004 Vincent's Angina NCI2004_11_17:C34637 Vincent's angina ICD9CM_2006:101 SNOMEDCT_2005_07_31:171847006 SNOMEDCT_2005_07_31:186960006 SNOMEDCT_2005_07_31:30896000 SNOMEDCT_2005_07_31:399050001 Vincent's angina - pharyngitis (disorder) SNOMEDCT_2005_07_31:186963008 Vincent's angina NOS SNOMEDCT_2005_07_31:186964002 Vincent's disease SNOMEDCT_2005_07_31:172697005 Vincent's infection, any site MTHICD9_2006:101 acute necrotising ulcerative gingivitis SNOMEDCT_2005_07_31:186962003 acute necrotising ulcerative gingivitis [Ambiguous] SNOMEDCT_2005_07_31:278519005 acute necrotising ulcerative gingivostomatitis SNOMEDCT_2005_07_31:186961005 acute necrotising ulcerative gingivostomatitis [Ambiguous] SNOMEDCT_2005_07_31:266145002 acute necrotizing ulcerative gingivostomatitis (disorder) SNOMEDCT_2005_07_31:173599005 acute ulceromembranous gingivitis SNOMEDCT_2005_07_31:171847006 acute ulceromembranous gingivitis SNOMEDCT_2005_07_31:30896000 acute ulceromembranous gingivitis SNOMEDCT_2005_07_31:399050001 early acute necrotising gingivitis SNOMEDCT_2005_07_31:240675006 MESH:D007767 NCI:C34757 SNOMEDCT_US_2016_03_01:246865000 SNOMEDCT_US_2016_03_01:416920000 SNOMEDCT_US_2016_03_01:95769009 UMLS_CUI:C0022906 Blocked lacrimal canaliculus Obstruction of lacrimal canaliculus Obstruction of lacrimal ducts disease_ontology DOID:13929 lacrimal duct obstruction Blocked lacrimal canaliculus SNOMEDCT_2005_07_31:246865000 Obstruction of lacrimal canaliculus SNOMEDCT_2005_07_31:416920000 Obstruction of lacrimal ducts SNOMEDCT_2005_07_31:95769009 ICD10CM:H47.9 NCI:C35342 SNOMEDCT_US_2016_03_01:155191004 SNOMEDCT_US_2016_03_01:194037001 SNOMEDCT_US_2016_03_01:267741008 SNOMEDCT_US_2016_03_01:267744000 SNOMEDCT_US_2016_03_01:54767005 UMLS_CUI:C0155287 disease_ontology DOID:1393 visual pathway disease ICD10CM:G51.0 MESH:D005158 NCI:C26769 SNOMEDCT_US_2016_03_01:155070005 SNOMEDCT_US_2016_03_01:267703001 SNOMEDCT_US_2016_03_01:280816001 SNOMEDCT_US_2016_03_01:46382007 SNOMEDCT_US_2016_03_01:79359001 SNOMEDCT_US_2016_03_01:90039006 UMLS_CUI:C0015469 Facial Palsy disease_ontology DOID:13934 facial paralysis Facial Palsy NCI2004_11_17:C26769 ICD10CM:N91.2 ICD9CM:626.0 MESH:D000568 NCI:C61443 SNOMEDCT_US_2016_03_01:14302001 SNOMEDCT_US_2016_03_01:156034000 SNOMEDCT_US_2016_03_01:156037007 SNOMEDCT_US_2016_03_01:198414005 UMLS_CUI:C0002453 absence of menstruation amenia disease_ontology DOID:13938 amenorrhea absence of menstruation ICD9CM_2006:626.0 amenia CSP2005:4001-0006 A schistosomiasis that involves parasitic infection of the urinary tract caused by a digenetic trematode Schistosoma haematobium causing cystitis, ureteritis, fibrosis of the bladder and haematuria, which can progress to bladder cancer. ICD9CM:120.0 MESH:D012553 NCI:C35362 NCI:C39294 SNOMEDCT_US_2016_03_01:187112004 SNOMEDCT_US_2016_03_01:197846004 SNOMEDCT_US_2016_03_01:53991003 SNOMEDCT_US_2016_03_01:60979006 UMLS_CUI:C0276926 Schistosoma Hematobium Infection Schistosoma haematobium (& vesical schistosomiasis) Schistosoma hematobium infectious disease Schistosomiasis due to schistosoma haematobium Schistosomiasis of bladder Vesical schistosomiasis bladder Schistosomiasis cystitis with bilharziasis (disorder) disease_ontology Schistosoma haematobium infection DOID:1394 urinary schistosomiasis A schistosomiasis that involves parasitic infection of the urinary tract caused by a digenetic trematode Schistosoma haematobium causing cystitis, ureteritis, fibrosis of the bladder and haematuria, which can progress to bladder cancer. url:http://en.wikipedia.org/wiki/Schistosoma_haematobium url:http://www.dpd.cdc.gov/dpdx/HTML/Schistosomiasis.htm Schistosoma Hematobium Infection NCI2004_11_17:C39294 Schistosoma haematobium (& vesical schistosomiasis) SNOMEDCT_2005_07_31:187112004 Schistosomiasis due to schistosoma haematobium ICD9CM_2006:120.0 Schistosomiasis of bladder SNOMEDCT_2005_07_31:197846004 Vesical schistosomiasis MTHICD9_2006:120.0 bladder Schistosomiasis NCI2004_11_17:C35362 cystitis with bilharziasis (disorder) SNOMEDCT_2005_07_31:53991003 ICD9CM:386.11 MESH:D065635 OMIM:193007 OMIM:613106 SNOMEDCT_US_2016_03_01:111541001 SNOMEDCT_US_2016_03_01:232285008 SNOMEDCT_US_2016_03_01:267763004 UMLS_CUI:C0155502 benign paroxysmal positional vertigo disease_ontology DOID:13941 Xref MGI. OMIM mapping confirmed by DO. [SN]. benign paroxysmal positional nystagmus benign paroxysmal positional vertigo ICD9CM_2006:386.11 ICD9CM:098.17 SNOMEDCT_US_2016_03_01:45377007 UMLS_CUI:C0275654 Gonococcal salpingitis, specified as acute disease_ontology DOID:13942 acute gonococcal salpingitis Gonococcal salpingitis, specified as acute ICD9CM_2006:098.17 ICD9CM:098.12 SNOMEDCT_US_2016_03_01:111806005 UMLS_CUI:C0153192 Gonococcal prostatitis Gonococcal prostatitis (acute) acute gonococcal prostatitis disease_ontology DOID:13943 acute gonococcal prostatitis Gonococcal prostatitis MTHICD9_2006:098.12 Gonococcal prostatitis (acute) ICD9CM_2006:098.12 acute gonococcal prostatitis SNOMEDCT_2005_07_31:111806005 An autosomal dominant cerebrovascular disorder characterized by recurrent subcortical ischemic stroke and cognitive impairment. ICD10CM:F01.1 MESH:D046589 NCI:C84606 ORDO:136 SNOMEDCT_US_2016_03_01:390723008 SNOMEDCT_US_2016_03_01:390936003 UMLS_CUI:C0751587 cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy hereditary multi-infarct dementia disease_ontology DOID:13945 CADASIL An autosomal dominant cerebrovascular disorder characterized by recurrent subcortical ischemic stroke and cognitive impairment. ORDO:136 https://www.ncbi.nlm.nih.gov/pubmed/10476042 https://www.ncbi.nlm.nih.gov/pubmed/8878478 ICD10CM:N32.0 ICD9CM:596.0 MESH:D001748 NCI:C79541 SNOMEDCT_US_2016_03_01:155887006 SNOMEDCT_US_2016_03_01:197859007 SNOMEDCT_US_2016_03_01:25220001 SNOMEDCT_US_2016_03_01:399072004 SNOMEDCT_US_2016_03_01:416991005 UMLS_CUI:C0005694 Obstruction of bladder neck or vesicourethral orifice disease_ontology DOID:13948 bladder neck obstruction Obstruction of bladder neck or vesicourethral orifice MTHICD9_2006:596.0 MESH:D018856 NCI:C27189 SNOMEDCT_US_2016_03_01:111409009 SNOMEDCT_US_2016_03_01:197834003 UMLS_CUI:C0282488 ulcerative cystitis disease_ontology DOID:13949 interstitial cystitis ulcerative cystitis SNOMEDCT_2005_07_31:111409009 A parasitic helminthiasis infectious disease that involves infection of the intestine, urinary tract, skin, liver and spleen caused by multiple species of the trematode fluke of the genus Schistosoma. The symptoms include fever, chills, nausea, abdominal pain, diarrhea, malaise, myalgia, liver and spleen enlargement, rash and hematuria. ICD9CM:120.8 SNOMEDCT_US_2016_03_01:187116001 SNOMEDCT_US_2016_03_01:187121003 UMLS_CUI:C0029827 disease_ontology DOID:1395 schistosomiasis A parasitic helminthiasis infectious disease that involves infection of the intestine, urinary tract, skin, liver and spleen caused by multiple species of the trematode fluke of the genus Schistosoma. The symptoms include fever, chills, nausea, abdominal pain, diarrhea, malaise, myalgia, liver and spleen enlargement, rash and hematuria. url:http://www.nlm.nih.gov/medlineplus/ency/article/001321.htm url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=schistosomiasis NCI:C40164 UMLS_CUI:C1519850 disease_ontology DOID:13951 uterine corpus epithelioid leiomyoma NCI:C40172 UMLS_CUI:C1519847 disease_ontology DOID:13953 uterine corpus dissecting leiomyoma disease_ontology DOID:13954 mitotically active variant uterine corpus leiomyoma true ICD10CM:D25.1 ICD9CM:218.1 SNOMEDCT_US_2016_03_01:93616000 UMLS_CUI:C0153994 Intramural leiomyoma of uterus Intramural leiomyoma of uterus (disorder) disease_ontology DOID:13955 uterus interstitial leiomyoma Intramural leiomyoma of uterus ICD9CM_2006:218.1 Intramural leiomyoma of uterus (disorder) SNOMEDCT_2005_07_31:93616000 NCI:C40166 UMLS_CUI:C1519860 disease_ontology DOID:13956 uterine corpus myxoid leiomyoma NCI:C40168 UMLS_CUI:C1519856 disease_ontology DOID:13957 uterine corpus lipoleiomyoma NCI:C40167 UMLS_CUI:C1519853 uterine Corpus Symplastic leiomyoma disease_ontology DOID:13958 uterine corpus bizarre leiomyoma uterine Corpus Symplastic leiomyoma NCI2004_11_17:C40167 Focal retinitis and retinochoroiditis, peripheral peripheral focal retinitis AND retinochoroiditis (disorder) disease_ontology DOID:13962 peripheral focal retinitis and retinochoroiditis true Focal retinitis and retinochoroiditis, peripheral ICD9CM_2006:363.08 peripheral focal retinitis AND retinochoroiditis (disorder) SNOMEDCT_2005_07_31:36535003 ICD9CM:366.16 SNOMEDCT_US_2016_03_01:193589009 SNOMEDCT_US_2016_03_01:46129005 UMLS_CUI:C0271166 Senile nuclear cataract Senile nuclear sclerosis disease_ontology DOID:13963 nuclear senile cataract Senile nuclear cataract SNOMEDCT_2005_07_31:46129005 Senile nuclear sclerosis ICD9CM_2006:366.16 ICD9CM:366.18 SNOMEDCT_US_2016_03_01:193591001 SNOMEDCT_US_2016_03_01:22315007 SNOMEDCT_US_2016_03_01:247065006 SNOMEDCT_US_2016_03_01:264443002 SNOMEDCT_US_2016_03_01:267626000 UMLS_CUI:C0152258 hypermature cataract disease_ontology DOID:13964 Morgagni cataract hypermature cataract ICD9CM_2006:366.18 disease_ontology DOID:13969 schizo-affective type schizophrenia subchronic state with acute exacerbation true ICD10CM:H05.1 ICD9CM:376.1 ICD9CM:376.10 SNOMEDCT_US_2016_03_01:194007005 SNOMEDCT_US_2016_03_01:194011004 SNOMEDCT_US_2016_03_01:44729001 UMLS_CUI:C0155261 chronic inflammation of orbit disease_ontology DOID:1397 chronic orbital inflammation chronic inflammation of orbit SNOMEDCT_2005_07_31:44729001 disease_ontology DOID:13970 schizo-affective type schizophrenia chronic state true ICD10CM:C50.51 ICD9CM:174.5 SNOMEDCT_US_2016_03_01:188155002 UMLS_CUI:C0153553 malignant neoplasm of lower-outer quadrant of female breast (disorder) disease_ontology DOID:13972 female breast lower-outer quadrant cancer malignant neoplasm of lower-outer quadrant of female breast (disorder) SNOMEDCT_2005_07_31:188155002 metastatic tumor to the Brainstem disease_ontology DOID:13975 metastatic tumor to the brain stem true metastatic tumor to the Brainstem NCI2004_11_17:C8550 ICD9CM:530.11 MESH:D004942 SNOMEDCT_US_2016_03_01:155673008 SNOMEDCT_US_2016_03_01:196600005 SNOMEDCT_US_2016_03_01:266498005 SNOMEDCT_US_2016_03_01:54856001 SNOMEDCT_US_2016_03_01:57643001 UMLS_CUI:C0014869 Peptic esophagitis Peptic reflux disease Reflux oesophagitis reflux esophagitis disease_ontology DOID:13976 peptic esophagitis Peptic esophagitis MTHICD9_2006:530.1 Peptic reflux disease SNOMEDCT_2005_07_31:57643001 Reflux oesophagitis SNOMEDCT_2005_07_31:196600005 reflux esophagitis CSP2005:1248-5846 A coccidioidomycosis that results_in pneumonia located_in lungs, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom pleuritic chest pain, has_symptom respiratory failure, has_symptom pleural effusion, and results_in_formation_of pulmonary nodules. DOID:13978 chronic pulmonary coccidioidomycosis desert fever disease_ontology DOID:13979 primary pulmonary coccidioidomycosis true A coccidioidomycosis that results_in pneumonia located_in lungs, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom pleuritic chest pain, has_symptom respiratory failure, has_symptom pleural effusion, and results_in_formation_of pulmonary nodules. url:http://emedicine.medscape.com/article/297976-overview desert fever CSP2005:1988-4353 A disease by infectious agent that is carried out by a parasite which by definition is a pathogen that simultaneously injures and derives sustenance from its host. DOID:11681 DOID:13509 DOID:1396 DOID:1494 DOID:2114 DOID:2293 DOID:2922 DOID:3564 DOID:4191 DOID:886 DOID:948 DOID:9639 DOID:9644 ICD10CM:H44.12 ICD9CM:360.13 NCI:C34587 SNOMEDCT_US_2016_03_01:193273005 SNOMEDCT_US_2016_03_01:57100005 UMLS_CUI:C0014238 Ectoparasitic disease parasitemia disease_ontology DOID:1398 parasitic infectious disease A disease by infectious agent that is carried out by a parasite which by definition is a pathogen that simultaneously injures and derives sustenance from its host. url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4071 Ectoparasitic disease SNOMEDCT_2005_07_31:240876009 A coccidioidomycosis that results_in inflammation located_in meninges, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom headache, has_symptom alterations in sensorium, and has_symptom obstructing hydrocephalus. disease_ontology DOID:13980 coccidioidal meningitis true A coccidioidomycosis that results_in inflammation located_in meninges, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom headache, has_symptom alterations in sensorium, and has_symptom obstructing hydrocephalus. url:http://emedicine.medscape.com/article/297976-overview ICD9CM:375.13 SNOMEDCT_US_2016_03_01:17093002 SNOMEDCT_US_2016_03_01:193978007 UMLS_CUI:C0155229 disease_ontology DOID:1399 primary lacrimal atrophy An osteochondrodysplasia that has_material_basis_in mutations in the RUNX2 gene which results_in undeveloped or absent located_in clavicle along with delayed closing of fontanels in the located_in skull. ICD10CM:Q74.0 MESH:D002973 NCI:C75020 OMIM:119600 OMIM:216330 ORDO:1452 SNOMEDCT_US_2016_03_01:240193006 SNOMEDCT_US_2016_03_01:65976001 UMLS_CUI:C0008928 Marie-Sainton Disease cleidocranial dysostosis disease_ontology DOID:13994 Xref MGI. OMIM mapping confirmed by DO. [SN]. cleidocranial dysplasia An osteochondrodysplasia that has_material_basis_in mutations in the RUNX2 gene which results_in undeveloped or absent located_in clavicle along with delayed closing of fontanels in the located_in skull. url:http://en.wikipedia.org/wiki/Cleidocranial_dysostosis url:http://ghr.nlm.nih.gov/condition/cleidocranial-dysplasia url:http://www.faces-cranio.org/Disord/CCD.htm url:http://www.healthline.com/galecontent/cleidocranial-dysplasia-1 url:http://www.nlm.nih.gov/medlineplus/ency/article/001589.htm url:http://www.umm.edu/ency/article/001589.htm disease_ontology DOID:13995 secondary malignant neoplasm to the small Intestine true NCI:C4007 SNOMEDCT_US_2016_03_01:449074003 UMLS_CUI:C0278805 small intestinal Lymphoma disease_ontology DOID:13996 small intestine lymphoma small intestinal Lymphoma NCI2004_11_17:C4007 ICD10CM:H10.53 ICD9CM:372.22 SNOMEDCT_US_2016_03_01:10813004 SNOMEDCT_US_2016_03_01:193872007 UMLS_CUI:C0155150 disease_ontology DOID:13999 contact blepharoconjunctivitis ICD10CM:H04 ICD10CM:H04.9 ICD9CM:375 ICD9CM:375.9 MESH:D007766 NCI:C26809 SNOMEDCT_US_2016_03_01:155181005 SNOMEDCT_US_2016_03_01:155185001 SNOMEDCT_US_2016_03_01:194003009 SNOMEDCT_US_2016_03_01:267740009 SNOMEDCT_US_2016_03_01:31053003 UMLS_CUI:C0022904 disease_ontology DOID:1400 lacrimal apparatus disease ICD10CM:H21.1 ICD9CM:364.42 SNOMEDCT_US_2016_03_01:51995000 UMLS_CUI:C0154916 disease_ontology DOID:14000 rubeosis iridis Diabetes mellitus juvenile type, uncontrolled, with peripheral circulatory disorder Diabetes mellitus type I [juvenile type], uncontrolled, with peripheral circulatory disorder disease_ontology DOID:14001 diabetes mellitus insulin dependent type, uncontrolled, with peripheral circulatory disorder true Diabetes mellitus juvenile type, uncontrolled, with peripheral circulatory disorder MTHICD9_2006:250.73 Diabetes mellitus type I [juvenile type], uncontrolled, with peripheral circulatory disorder ICD9CM_2006:250.73 An aortic aneurysm that is located_in the thoracic aorta. EFO:0004282 MESH:D017545 NCI:C27001 OMIM:132900 OMIM:607086 OMIM:607087 OMIM:611788 OMIM:613780 OMIM:615436 ORDO:91387 SNOMEDCT_US_2016_03_01:155421001 SNOMEDCT_US_2016_03_01:433068007 UMLS_CUI:C0162872 disease_ontology DOID:14004 Xref MGI. OMIM mapping confirmed by DO. [SN]. thoracic aortic aneurysm An aortic aneurysm that is located_in the thoracic aorta. url:http://en.wikipedia.org/wiki/Aortic_aneurysm url:http://en.wikipedia.org/wiki/Thoracic_aortic_aneurysm ICD9CM:442.83 SNOMEDCT_US_2016_03_01:70405009 UMLS_CUI:C0155747 disease_ontology DOID:14006 splenic artery aneurysm CSP:1754-7677 ICD10CM:K70.3 ICD9CM:571.2 MESH:D008104 NCI:C34782 SNOMEDCT_US_2016_03_01:155811002 SNOMEDCT_US_2016_03_01:197280008 SNOMEDCT_US_2016_03_01:235894003 SNOMEDCT_US_2016_03_01:266467008 SNOMEDCT_US_2016_03_01:420054005 SNOMEDCT_US_2016_03_01:75393009 UMLS_CUI:C0023891 Alcoholic Cirrhosis Alcoholic cirrhosis of liver Laennec's cirrhosis Laennec's cirrhosis, alcoholic Portal cirrhosis disease_ontology DOID:14018 alcoholic liver cirrhosis Alcoholic Cirrhosis NCI2004_11_17:C34782 Alcoholic cirrhosis of liver ICD9CM_2006:571.2 Laennec's cirrhosis SNOMEDCT_2005_07_31:197280008 Laennec's cirrhosis, alcoholic MTHICD9_2006:571.2 Portal cirrhosis SNOMEDCT_2005_07_31:235894003 A brucellosis involving an infection caused by Brucella canis [NCBITaxon:36855] in dogs and humans. The disease has_symptom fever, has_symptom sweats, has_symptom weakness, has_symptom weight loss, has_symptom headache, has_symptom lymphadenopathy and has_symptom splenomegaly. ICD10CM:A23.3 ICD9CM:023.3 SNOMEDCT_US_2016_03_01:186308009 SNOMEDCT_US_2016_03_01:428174001 SNOMEDCT_US_2016_03_01:78576009 UMLS_CUI:C0494040 disease_ontology DOID:14019 Brucella canis brucellosis A brucellosis involving an infection caused by Brucella canis [NCBITaxon:36855] in dogs and humans. The disease has_symptom fever, has_symptom sweats, has_symptom weakness, has_symptom weight loss, has_symptom headache, has_symptom lymphadenopathy and has_symptom splenomegaly. url:http://www.cdc.gov/ncidod/dbmd/diseaseinfo/Brucellosis_g.htm url:http://www.ncbi.nlm.nih.gov/pubmed/1172954 DOID:1401 Failure of lactation - delivered Failure of lactation - delivered (disorder) Failure of lactation, with delivery, with or without mention of antepartum condition disease_ontology DOID:1402 agalactia true Failure of lactation - delivered (disorder) SNOMEDCT_2005_07_31:200433004 Failure of lactation, with delivery, with or without mention of antepartum condition ICD9CM_2006:676.41 ICD10CM:M94.0 ICD9CM:733.6 MESH:D013991 SNOMEDCT_US_2016_03_01:156848001 SNOMEDCT_US_2016_03_01:203323007 SNOMEDCT_US_2016_03_01:203523006 SNOMEDCT_US_2016_03_01:203529005 SNOMEDCT_US_2016_03_01:240136001 SNOMEDCT_US_2016_03_01:268130001 SNOMEDCT_US_2016_03_01:30128009 SNOMEDCT_US_2016_03_01:393606005 SNOMEDCT_US_2016_03_01:64109004 SNOMEDCT_US_2016_03_01:91226007 UMLS_CUI:C0040213 Costalchondritis Costochondral junction syndrome Costochondritis Slipping rib syndrome Tietze's disease disease_ontology Tietze syndrome DOID:14021 Tietze's syndrome Costalchondritis SNOMEDCT_2005_07_31:64109004 Costochondral junction syndrome MTHICD9_2006:733.6 Costochondritis SNOMEDCT_2005_07_31:203523006 Slipping rib syndrome SNOMEDCT_2005_07_31:91226007 Tietze's disease ICD9CM_2006:733.6 ICD10CM:M89.0 ICD10CM:M89.00 ICD9CM:733.7 SNOMEDCT_US_2016_03_01:203490000 SNOMEDCT_US_2016_03_01:203496006 SNOMEDCT_US_2016_03_01:7359008 UMLS_CUI:C0205930 Algoneurodystrophy (disorder) Algoneurodystrophy NOS (disorder) disease_ontology DOID:14022 algoneurodystrophy Algoneurodystrophy (disorder) SNOMEDCT_2005_07_31:7359008 Algoneurodystrophy NOS (disorder) SNOMEDCT_2005_07_31:203496006 ICD10CM:D52 ICD10CM:D52.9 ICD9CM:281.2 SNOMEDCT_US_2016_03_01:154791000 SNOMEDCT_US_2016_03_01:191152006 SNOMEDCT_US_2016_03_01:85649008 UMLS_CUI:C0151482 Folate deficiency anemia Folate-deficiency anemia Folate-deficient megaloblastic anaemia disease_ontology DOID:14026 folic acid deficiency anemia Folate deficiency anemia SNOMEDCT_2005_07_31:191152006 Folate-deficiency anemia ICD9CM_2006:281.2 Folate-deficient megaloblastic anaemia SNOMEDCT_2005_07_31:154791000 SNOMEDCT_US_2016_03_01:93948004 UMLS_CUI:C0153495 primary malignant neoplasm of parietal pleura (disorder) disease_ontology DOID:14032 malignant parietal pleura tumor primary malignant neoplasm of parietal pleura (disorder) SNOMEDCT_2005_07_31:93948004 SNOMEDCT_US_2016_03_01:94140004 UMLS_CUI:C0153496 primary malignant neoplasm of visceral pleura (disorder) disease_ontology DOID:14033 malignant visceral pleura tumor primary malignant neoplasm of visceral pleura (disorder) SNOMEDCT_2005_07_31:94140004 An aortic disease that is characterized by an absence of an opening from the left ventricle of the heart into the aorta. ICD9CM:747.22 SNOMEDCT_US_2016_03_01:204431007 SNOMEDCT_US_2016_03_01:204438001 UMLS_CUI:C0345010 Atresia and stenosis of aorta (disorder) Congenital atresia and stenosis of aorta disease_ontology DOID:14037 aorta atresia An aortic disease that is characterized by an absence of an opening from the left ventricle of the heart into the aorta. url:https://secure.ssa.gov/poms.nsf/lnx/0423022540 Atresia and stenosis of aorta (disorder) SNOMEDCT_2005_07_31:204431007 Congenital atresia and stenosis of aorta ICD9CM_2006:747.22 (Sexual precocity NOS) or (puberty - precocious) Precocious puberty Precocious puberty (disorder) Precocious sexual development (disorder) Precocious true puberty Premature puberty Sexual precocity NOS precocious puberty disease_ontology DOID:14038 precocious puberty true (Sexual precocity NOS) or (puberty - precocious) SNOMEDCT_2005_07_31:154716006 (Sexual precocity NOS) or (puberty - precocious) SNOMEDCT_2005_07_31:267488008 Precocious puberty SNOMEDCT_2005_07_31:190575003 Precocious puberty (disorder) SNOMEDCT_2005_07_31:400179000 Precocious sexual development (disorder) SNOMEDCT_2005_07_31:123527003 Precocious true puberty SNOMEDCT_2005_07_31:70387004 Premature puberty SNOMEDCT_2005_07_31:190576002 Sexual precocity NOS MTHICD9_2006:259.1 precocious puberty CSP2005:2586-8869 MESH:D016878 NCI:C80303 SNOMEDCT_US_2016_03_01:79268002 UMLS_CUI:C0085404 disease_ontology DOID:14039 POEMS syndrome ICD10CM:H40.24 ICD9CM:365.24 SNOMEDCT_US_2016_03_01:55129006 UMLS_CUI:C0154948 Residual stage of angle-closure glaucoma disease_ontology DOID:1404 residual stage angle-closure glaucoma Residual stage of angle-closure glaucoma ICD9CM_2006:365.24 An autoimmune disease of endocrine system characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. ICD10CM:E31.0 MESH:D016884 NCI:C84576 SNOMEDCT_US_2016_03_01:18947001 SNOMEDCT_US_2016_03_01:190567009 SNOMEDCT_US_2016_03_01:190568004 SNOMEDCT_US_2016_03_01:41864002 UMLS_CUI:C0085409 Autoimmune polyglandular failure Lloyd's syndrome autoimmune polyendocrinopathy disease_ontology DOID:14040 autoimmune polyendocrine syndrome An autoimmune disease of endocrine system characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. sn:IEDB Autoimmune polyglandular failure SNOMEDCT_2005_07_31:190568004 Lloyd's syndrome MTHICD9_2006:258.1 Lloyd's syndrome SNOMEDCT_2005_07_31:18947001 Lloyd's syndrome SNOMEDCT_2005_07_31:190567009 disease_ontology DOID:14041 endocrine tuberculosis true A bipolar disorder that is characterized by at least one manic or mixed episode. ICD9CM:296.50 SNOMEDCT_US_2016_03_01:49468007 UMLS_CUI:C0236773 disease_ontology DOID:14042 bipolar I disorder A bipolar disorder that is characterized by at least one manic or mixed episode. url:http://en.wikipedia.org/wiki/Bipolar_I ICD9CM:775.2 MESH:D020941 SNOMEDCT_US_2016_03_01:82178003 UMLS_CUI:C0158982 Neonatal Myasthenia Gravis Neonatal myasthenia gravis Neonatal myasthenia gravis (disorder) disease_ontology DOID:14043 neonatal myasthenia gravis Neonatal Myasthenia Gravis MTH:NOCODE Neonatal myasthenia gravis ICD9CM_2006:775.2 Neonatal myasthenia gravis (disorder) SNOMEDCT_2005_07_31:82178003 acute Rheumatic Pericarditis acute Rheumatic fever with pericarditis acute rheumatic pericarditis acute rheumatic pericarditis (disorder) disease_ontology DOID:14044 rheumatic pericarditis true acute Rheumatic Pericarditis NCI2004_11_17:C35200 acute Rheumatic fever with pericarditis MTHICD9_2006:391.0 acute rheumatic pericarditis ICD9CM_2006:391.0 acute rheumatic pericarditis SNOMEDCT_2005_07_31:155267004 acute rheumatic pericarditis (disorder) SNOMEDCT_2005_07_31:15676002 Infant of a diabetic mother syndrome syndrome of infant of diabetic mother (disorder) disease_ontology DOID:14045 syndrome of infant of a diabetic mother true Infant of a diabetic mother syndrome SNOMEDCT_2005_07_31:157144007 syndrome of infant of diabetic mother (disorder) SNOMEDCT_2005_07_31:21584002 A primary systemic mycosis located_in subcutaneous tissues, located_in brain, located_in sinuses, located_in lungs, or located_in peritoneal cavity, has_material_basis_in Exophiala dermatitidis, has_material_basis_in Phialophora, has_material_basis_in Bipolaris hawaiiensis, has_material_basis_in Exserohilum, has_material_basis_in Cladophialophora bantiana, has_material_basis_in Phaeoannellomyces, has_material_basis_in Aureobasidium, has_material_basis_in Cladosporium cladosporoides, has_material_basis_in Alternaria or has_material_basis_in Rhinocladiella mackenziei and results_in_formation_of subcutaneous abscesses arising at the site of minor trauma, and occur in both immunosuppressed and immunocompetent individuals. Infection by dematiacious fungi Infection by dematiacious fungi [Phaehyphomycosis] phaehyphomycosis disease_ontology DOID:14049 phaeohyphomycosis A primary systemic mycosis located_in subcutaneous tissues, located_in brain, located_in sinuses, located_in lungs, or located_in peritoneal cavity, has_material_basis_in Exophiala dermatitidis, has_material_basis_in Phialophora, has_material_basis_in Bipolaris hawaiiensis, has_material_basis_in Exserohilum, has_material_basis_in Cladophialophora bantiana, has_material_basis_in Phaeoannellomyces, has_material_basis_in Aureobasidium, has_material_basis_in Cladosporium cladosporoides, has_material_basis_in Alternaria or has_material_basis_in Rhinocladiella mackenziei and results_in_formation_of subcutaneous abscesses arising at the site of minor trauma, and occur in both immunosuppressed and immunocompetent individuals. url:http://www.doctorfungus.org/mycoses/human/other/phaeohyphomycosis.htm url:http://www.mycology.adelaide.edu.au/Mycoses/Subcutaneous/Phaeohyphomycosis/ url:http://www.thelancet.com/journals/laninf/article/PIIS1473-3099%2809%2970131-8/abstract Infection by dematiacious fungi MTHICD9_2006:117.8 Infection by dematiacious fungi [Phaehyphomycosis] ICD9CM_2006:117.8 ICD10CM:H40.2 ICD10CM:H40.20 ICD9CM:365.2 ICD9CM:365.20 NCI:C34640 SNOMEDCT_US_2016_03_01:155123006 SNOMEDCT_US_2016_03_01:193544008 SNOMEDCT_US_2016_03_01:193545009 SNOMEDCT_US_2016_03_01:193547001 SNOMEDCT_US_2016_03_01:270882001 SNOMEDCT_US_2016_03_01:392288006 SNOMEDCT_US_2016_03_01:42456004 UMLS_CUI:C0017606 primary Angle Closure Glaucoma disease_ontology DOID:1405 primary angle-closure glaucoma primary Angle Closure Glaucoma NCI2004_11_17:C34640 DOID:14057 Endocarditis-RH chronic Rheumatic disease of endocardium, valve unspecified Rheumatic endocarditis (disorder) Rheumatic endocarditis NOS Rheumatic endocarditis NOS (disorder) acute Rheumatic Endocarditis acute rheumatic endocarditis acute rheumatic endocarditis (disorder) rheumatic endocarditis disease_ontology DOID:14056 rheumatic endocarditis true Endocarditis-RH chronic SNOMEDCT_2005_07_31:266284004 Rheumatic disease of endocardium, valve unspecified ICD9CM_2006:397.9 Rheumatic endocarditis (disorder) SNOMEDCT_2005_07_31:48872007 Rheumatic endocarditis NOS SNOMEDCT_2005_07_31:194748000 Rheumatic endocarditis NOS (disorder) SNOMEDCT_2005_07_31:266227009 acute Rheumatic Endocarditis NCI2004_11_17:C35201 acute rheumatic endocarditis ICD9CM_2006:391.1 acute rheumatic endocarditis SNOMEDCT_2005_07_31:155268009 acute rheumatic endocarditis (disorder) SNOMEDCT_2005_07_31:18192007 rheumatic endocarditis CSP2005:1393-3487 ICD10CM:C68.1 ICD9CM:189.4 SNOMEDCT_US_2016_03_01:363460002 SNOMEDCT_US_2016_03_01:93944002 UMLS_CUI:C0153621 malignant tumor of paraurethral gland (disorder) malignant tumor of the Paraurethral gland disease_ontology DOID:14059 paraurethral gland cancer malignant tumor of paraurethral gland (disorder) SNOMEDCT_2005_07_31:363460002 malignant tumor of the Paraurethral gland NCI2004_11_17:C3561 MESH:D007500 NCI:C50621 SNOMEDCT_US_2016_03_01:65074000 UMLS_CUI:C0022081 disease_ontology DOID:1406 iritis disease_ontology DOID:14063 acute glomerulonephritis with lesion of rapidly progressive glomerulonephritis true NCI:C35443 SNOMEDCT_US_2016_03_01:68544003 UMLS_CUI:C0403414 Post-Streptococcal Glomerulonephritis disease_ontology DOID:14064 acute poststreptococcal glomerulonephritis Post-Streptococcal Glomerulonephritis NCI2004_11_17:C35443 NCI:C35587 SNOMEDCT_US_2016_03_01:197585004 UMLS_CUI:C0341689 acute Diffuse Glomerulonephritis disease_ontology DOID:14066 acute diffuse nephritis acute Diffuse Glomerulonephritis NCI2004_11_17:C35587 A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever. ICD10CM:B50 ICD10CM:B50.9 ICD9CM:084.0 MESH:D016778 NCI:C34798 SNOMEDCT_US_2016_03_01:186802002 SNOMEDCT_US_2016_03_01:187504004 SNOMEDCT_US_2016_03_01:248441000 SNOMEDCT_US_2016_03_01:62676009 UMLS_CUI:C0024535 Falciparum Malaria Falciparum malaria (disorder) Falciparum malaria [malignant tertian] Malaria fever, subtertian Plasmodium falciparum malaria, unspecified Plasmodium falciparum malaria, unspecified (disorder) malignant tertian fever (finding) disease_ontology DOID:14067 Plasmodium falciparum malaria A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=falciparum+malaria Falciparum Malaria NCI2004_11_17:C34798 Falciparum malaria (disorder) SNOMEDCT_2005_07_31:62676009 Falciparum malaria [malignant tertian] ICD9CM_2006:084.0 Malaria fever, subtertian MTHICD9_2006:084.0 Plasmodium falciparum malaria, unspecified SNOMEDCT_2005_07_31:186802002 Plasmodium falciparum malaria, unspecified (disorder) SNOMEDCT_2005_07_31:187504004 malignant tertian fever (finding) SNOMEDCT_2005_07_31:248441000 A malaria that presents as a rare febrile complication of repeated malarial attacks characterized by intravascular haemolysis, haemoglobinuria and kidney failure, resulting from destruction of red blood cells caused by heavy parasitization with Plasmodium falciparum or Plasmodium vivax. ICD9CM:084.8 MESH:D001742 NCI:C34426 SNOMEDCT_US_2016_03_01:56625005 UMLS_CUI:C0005681 Black water fever (disorder) Blackwater fever Hemoglobinuric, malaria Malarial Hemoglobinuria disease_ontology DOID:14068 blackwater fever A malaria that presents as a rare febrile complication of repeated malarial attacks characterized by intravascular haemolysis, haemoglobinuria and kidney failure, resulting from destruction of red blood cells caused by heavy parasitization with Plasmodium falciparum or Plasmodium vivax. url:http://en.wikipedia.org/wiki/Blackwater_fever url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=blackwater%20fever Black water fever (disorder) SNOMEDCT_2005_07_31:56625005 Blackwater fever ICD9CM_2006:084.8 Hemoglobinuric, malaria MTHICD9_2006:084.8 Malarial Hemoglobinuria NCI2004_11_17:C34426 A malaria that involves neurologic damage resulting from blockage of the blood vessels, caused due to the infection of the red blood cells by Plasmodium species. ICD10CM:B50.0 MESH:D016779 SNOMEDCT_US_2016_03_01:186799006 SNOMEDCT_US_2016_03_01:53622003 UMLS_CUI:C0024534 Malarial encephalitis disease_ontology DOID:14069 cerebral malaria A malaria that involves neurologic damage resulting from blockage of the blood vessels, caused due to the infection of the red blood cells by Plasmodium species. url:http://en.wikipedia.org/wiki/Malaria Malarial encephalitis SNOMEDCT_2005_07_31:186799006 CSP:1114-9593 MESH:D014606 NCI:C35109 SNOMEDCT_US_2016_03_01:193500005 SNOMEDCT_US_2016_03_01:231946008 SNOMEDCT_US_2016_03_01:410692006 SNOMEDCT_US_2016_03_01:77971008 UMLS_CUI:C0042165 disease_ontology DOID:1407 anterior uveitis ICD9CM:379.54 SNOMEDCT_US_2016_03_01:46888001 UMLS_CUI:C0155379 Nystagmus associated with disorder of the vestibular system disease_ontology DOID:14070 vestibular nystagmus Nystagmus associated with disorder of the vestibular system ICD9CM_2006:379.54 disease_ontology DOID:14072 neoplastic pregnancy complications true ICD10CM:G51.1 ICD9CM:351.1 MESH:D005155 SNOMEDCT_US_2016_03_01:155071009 SNOMEDCT_US_2016_03_01:267704007 SNOMEDCT_US_2016_03_01:72839009 UMLS_CUI:C0017407 disease_ontology DOID:14075 geniculate ganglionitis ICD10CM:E26.02 ICD9CM:255.11 MESH:C563177 NCI:C123248 OMIM:103900 SNOMEDCT_US_2016_03_01:237743003 UMLS_CUI:C1260386 disease_ontology DOID:14080 OMIM mapping confirmed by DO. [SN]. glucocorticoid-remediable aldosteronism A labyrinthitis induced by alcohol, drug ingestion, or occasionally, inhaled substances that are toxic to the inner ear. Drugs like aminoglycosides, furosemide, ethacrynic acid, acetylsalicyclic acid, amiodarone, quinine, cisplatinum, barbiturates, quinine, anti-Alzheimer's medications, anticonvulsants, antidepressants, and anxiolytics can be ototoxic. ICD9CM:386.34 SNOMEDCT_US_2016_03_01:3344003 UMLS_CUI:C0155507 Toxic labyrinthitis (disorder) disease_ontology DOID:14081 toxic labyrinthitis A labyrinthitis induced by alcohol, drug ingestion, or occasionally, inhaled substances that are toxic to the inner ear. Drugs like aminoglycosides, furosemide, ethacrynic acid, acetylsalicyclic acid, amiodarone, quinine, cisplatinum, barbiturates, quinine, anti-Alzheimer's medications, anticonvulsants, antidepressants, and anxiolytics can be ototoxic. url:http://books.google.com/books?id=FB0Asxq2KSQC&pg=PA120&lpg#v=onepage&q=&f=false url:http://www.ncbi.nlm.nih.gov/pubmed/16448876 Toxic labyrinthitis (disorder) SNOMEDCT_2005_07_31:3344003 A bone inflammation disease that results_in inflammation located_in epicondyle. DOID:14162 ICD10CM:M77.1 ICD9CM:726.32 MESH:D013716 NCI:C34589 NCI:C35067 SNOMEDCT_US_2016_03_01:156659008 SNOMEDCT_US_2016_03_01:202855006 SNOMEDCT_US_2016_03_01:24133009 SNOMEDCT_US_2016_03_01:268088003 SNOMEDCT_US_2016_03_01:73583000 UMLS_CUI:C0014488 UMLS_CUI:C0039516 Lateral epicondylitis andrel epicondylitis archer's elbow golfer's elbow hockey elbow medial epicondylitis disease_ontology shooter's elbow tennis elbow DOID:14087 epicondylitis A bone inflammation disease that results_in inflammation located_in epicondyle. url:http://en.wikipedia.org/wiki/Epicondylitis Lateral epicondylitis ICD9CM_2006:726.32 ICD9CM:521.08 MESH:D017213 SNOMEDCT_US_2016_03_01:234975001 SNOMEDCT_US_2016_03_01:30512007 UMLS_CUI:C0162644 Cementum caries Dental caries of root surface Root caries disease_ontology DOID:14089 root caries Cementum caries SNOMEDCT_2005_07_31:30512007 Dental caries of root surface ICD9CM_2006:521.08 Root caries SNOMEDCT_2005_07_31:234975001 Heartwater (disorder) disease_ontology DOID:14090 heartwater disease true Heartwater (disorder) SNOMEDCT_2005_07_31:73896008 ICD10CM:I70.1 ICD9CM:440.1 SNOMEDCT_US_2016_03_01:155416004 SNOMEDCT_US_2016_03_01:45281005 UMLS_CUI:C0155734 Atherosclerosis of renal artery Atherosclerosis of renal artery (disorder) renal atherosclerosis disease_ontology DOID:14092 renal artery atheroma Atherosclerosis of renal artery ICD9CM_2006:440.1 Atherosclerosis of renal artery (disorder) SNOMEDCT_2005_07_31:45281005 renal atherosclerosis SNOMEDCT_2005_07_31:155416004 A spotted fever that has_material_basis_in Rickettsia conorii subsp conorii, which is transmitted_by dog tick (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities. DOID:0050039 DOID:0050040 DOID:0050044 DOID:0050045 ICD10CM:A77.1 ICD9CM:082.1 MESH:D001907 SNOMEDCT_US_2016_03_01:186774005 SNOMEDCT_US_2016_03_01:186778008 SNOMEDCT_US_2016_03_01:186779000 SNOMEDCT_US_2016_03_01:186780002 SNOMEDCT_US_2016_03_01:414658000 SNOMEDCT_US_2016_03_01:59742009 UMLS_CUI:C0006060 African tick typhus (disorder) Rickettsia conorii spotted fever South African tick-bite fever (disorder) african tick typhus kenya tick typhus marseilles fever disease_ontology Boutonneuse disease Conor and Bruch's disease Kenya fever Kenyan tick typhus Mediterranean spotted fever Mediterranean tick fever DOID:14095 boutonneuse fever A spotted fever that has_material_basis_in Rickettsia conorii subsp conorii, which is transmitted_by dog tick (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities. url:http://en.wikipedia.org/wiki/Boutonneuse_fever url:http://www.cdc.gov/otherspottedfever/index.html African tick typhus (disorder) SNOMEDCT_2005_07_31:266118003 South African tick-bite fever (disorder) SNOMEDCT_2005_07_31:415561000 Kenyan tick typhus SNOMEDCT_2005_07_31:186774005 ICD9CM:606.8 SNOMEDCT_US_2016_03_01:198011008 SNOMEDCT_US_2016_03_01:198017007 SNOMEDCT_US_2016_03_01:84245004 UMLS_CUI:C0021360 Infertility due to extratesticular causes disease_ontology DOID:14096 infertility due to extratesticular cause Infertility due to extratesticular causes ICD9CM_2006:606.8 ICD9CM:537.0 SNOMEDCT_US_2016_03_01:13483000 UMLS_CUI:C0700588 acquired hypertrophic pyloric stenosis adult hypertrophic pyloric stenosis disease_ontology DOID:14099 acquired gastric outlet stenosis acquired hypertrophic pyloric stenosis ICD9CM_2006:537.0 adult hypertrophic pyloric stenosis SNOMEDCT_2005_07_31:155725009 ICD10CM:M65.4 ICD9CM:727.04 MESH:D053684 SNOMEDCT_US_2016_03_01:123249005 SNOMEDCT_US_2016_03_01:154666006 SNOMEDCT_US_2016_03_01:156670001 SNOMEDCT_US_2016_03_01:190296009 SNOMEDCT_US_2016_03_01:202905002 SNOMEDCT_US_2016_03_01:21794005 SNOMEDCT_US_2016_03_01:268094006 UMLS_CUI:C0149870 Radial styloid tenosynovitis Tenosynovitis, de Quervain's disease_ontology DOID:14107 De Quervain disease Radial styloid tenosynovitis ICD9CM_2006:727.04 Tenosynovitis, de Quervain's SNOMEDCT_2005_07_31:156670001 disease_ontology DOID:14108 syphilitic peritonitis true A large intestine cancer that is located_in the anus. DOID:12240 ICD10CM:C21.0 ICD10CM:C21.1 ICD9CM:154.2 ICD9CM:154.3 NCI:C7379 SNOMEDCT_US_2016_03_01:187762000 SNOMEDCT_US_2016_03_01:187764004 SNOMEDCT_US_2016_03_01:363352004 SNOMEDCT_US_2016_03_01:363490009 SNOMEDCT_US_2016_03_01:93669004 SNOMEDCT_US_2016_03_01:93676009 UMLS_CUI:C0153445 UMLS_CUI:C0153446 anal cancer malignant anal tumor disease_ontology DOID:14110 anus cancer A large intestine cancer that is located_in the anus. url:http://en.wikipedia.org/wiki/Anus malignant anal tumor NCI2004_11_17:C7379 ICD10CM:K14.2 ICD9CM:529.2 SNOMEDCT_US_2016_03_01:7522008 UMLS_CUI:C0155963 Persistent tuberculum impar (disorder) disease_ontology DOID:14111 median rhomboid glossitis Persistent tuberculum impar (disorder) SNOMEDCT_2005_07_31:7522008 Congenital adhesions of tongue Congenital adhesions of tongue (disorder) adhesions,tongue-congenital disease_ontology DOID:14114 congenital adhesion of tongue true Congenital adhesions of tongue ICD9CM_2006:750.12 Congenital adhesions of tongue (disorder) SNOMEDCT_2005_07_31:703000 adhesions,tongue-congenital SNOMEDCT_2005_07_31:268322005 A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus , which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities. ICD10CM:A48.3 ICD9CM:040.82 MESH:D012772 NCI:C35498 SNOMEDCT_US_2016_03_01:18504008 UMLS_CUI:C0600327 TSS Toxic Shock syndrome Toxic shock syndrome Toxic shock syndrome (disorder) toxic shock disease_ontology DOID:14115 toxic shock syndrome A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus , which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities. url:http://emedicine.medscape.com/article/169177-overview url:http://en.wikipedia.org/wiki/Toxic_shock_syndrome TSS CSP2005:0368-3426 Toxic Shock syndrome NCI2004_11_17:C35498 Toxic shock syndrome ICD9CM_2006:040.82 Toxic shock syndrome (disorder) SNOMEDCT_2005_07_31:18504008 MESH:D008069 NCI:C4392 OMIM:151800 SNOMEDCT_US_2016_03_01:63365006 UMLS_CUI:C0024445 LIPODYSTROPHY, CEPHALOTHORACIC LIPOMATOSIS, FAMILIAL BENIGN CERVICAL Launois-Bensaude's lipomatosis Madelung's neck Multiple symmetric lipomatosis cervical Symmetrical Lipomatosis disease_ontology DOID:14116 OMIM mapping confirmed by DO. [SN]. multiple symmetric lipomatosis Launois-Bensaude's lipomatosis MTHICD9_2006:272.8 Multiple symmetric lipomatosis SNOMEDCT_2005_07_31:254832003 cervical Symmetrical Lipomatosis NCI2004_11_17:C4392 LDL hyperlipoproteinemia Pure hypercholesterolaemia Pure hypercholesterolemia Pure hypercholesterolemia (disorder) Pure hypercholesterolemia NOS (disorder) hyperlipidemia, group A (disorder) disease_ontology DOID:14117 group A hyperlipidemia true LDL hyperlipoproteinemia MTHICD9_2006:272.0 Pure hypercholesterolaemia SNOMEDCT_2005_07_31:154740003 Pure hypercholesterolaemia SNOMEDCT_2005_07_31:190772003 Pure hypercholesterolaemia SNOMEDCT_2005_07_31:267500001 Pure hypercholesterolemia ICD9CM_2006:272.0 Pure hypercholesterolemia (disorder) SNOMEDCT_2005_07_31:267432004 Pure hypercholesterolemia NOS (disorder) SNOMEDCT_2005_07_31:190778004 hyperlipidemia, group A (disorder) SNOMEDCT_2005_07_31:190774002 ICD10CM:E78.3 ICD9CM:272.3 MESH:D008072 NCI:C84771 OMIM:238600 SNOMEDCT_US_2016_03_01:190781009 SNOMEDCT_US_2016_03_01:238039006 SNOMEDCT_US_2016_03_01:238086005 SNOMEDCT_US_2016_03_01:267435002 SNOMEDCT_US_2016_03_01:275598004 SNOMEDCT_US_2016_03_01:34171006 SNOMEDCT_US_2016_03_01:403827000 UMLS_CUI:C0023817 Fredrickson type I hyperlipoproteinemia (disorder) Fredrickson type I lipaemia familial LPL deficiency familial hyperchylomicronemia (disorder) familial hyperlipoproteinemia type I familial lipoprotein lipase deficiency (disorder) [Ambiguous] familial lipoprotein lipase deficiency with type I phenotype hypercholesterinaemic xanthomatosis hyperchylomicronemia mixed hyperglyceridemia disease_ontology DOID:14118 OMIM mapping confirmed by DO. [SN]. familial lipoprotein lipase deficiency Fredrickson type I hyperlipoproteinemia (disorder) SNOMEDCT_2005_07_31:238086005 Fredrickson type I lipaemia SNOMEDCT_2005_07_31:190781009 familial LPL deficiency SNOMEDCT_2005_07_31:238039006 familial hyperchylomicronemia (disorder) SNOMEDCT_2005_07_31:267435002 familial hyperlipoproteinemia type I CSP2005:1849-4577 familial lipoprotein lipase deficiency (disorder) [Ambiguous] SNOMEDCT_2005_07_31:34171006 familial lipoprotein lipase deficiency with type I phenotype SNOMEDCT_2005_07_31:403827000 hypercholesterinaemic xanthomatosis SNOMEDCT_2005_07_31:275598004 hyperchylomicronemia ICD9CM_2006:272.3 mixed hyperglyceridemia MTHICD9_2006:272.3 A urinary system disease which consists of the presence of bacteria in urine. CSP:3045-9976 HP:0012461 MESH:D001437 MedDRA:10004056 SNOMEDCT_US_2016_03_01:61373006 UMLS_CUI:C0004659 disease_ontology DOID:1412 bacteriuria A urinary system disease which consists of the presence of bacteria in urine. url:http://en.wikipedia.org/wiki/Bacteriuria MESH:D018438 UMLS_CUI:C0242645 disease_ontology DOID:14121 blue toe syndrome NCI:C5826 SNOMEDCT_US_2016_03_01:126972009 UMLS_CUI:C1263898 VIth Cranial nerve tumors neoplasm of abducens nerve (disorder) disease_ontology DOID:14125 abducens nerve neoplasm VIth Cranial nerve tumors NCI2004_11_17:C5826 neoplasm of abducens nerve (disorder) SNOMEDCT_2005_07_31:126972009 ICD10CM:N81.12 ICD9CM:618.02 SNOMEDCT_US_2016_03_01:441891001 UMLS_CUI:C2711750 disease_ontology DOID:14130 lateral cystocele ICD10CM:N81.11 ICD9CM:618.01 SNOMEDCT_US_2016_03_01:423633003 UMLS_CUI:C1456248 disease_ontology DOID:14131 midline cystocele ICD9CM:620.6 SNOMEDCT_US_2016_03_01:69186005 UMLS_CUI:C0152079 Broad ligament laceration syndrome disease_ontology DOID:14133 Masters-Allen syndrome Broad ligament laceration syndrome ICD9CM_2006:620.6 NCI:C5601 UMLS_CUI:C1332268 Lymphoma of anus disease_ontology DOID:14139 anus lymphoma Lymphoma of anus NCI2004_11_17:C5601 ICD9CM:256.3 ICD9CM:256.39 SNOMEDCT_US_2016_03_01:190543001 SNOMEDCT_US_2016_03_01:190548005 SNOMEDCT_US_2016_03_01:267399006 UMLS_CUI:C0029697 disease_ontology DOID:1414 ovarian dysfunction ICD9CM:521.33 UMLS_CUI:C1456163 disease_ontology DOID:14140 pulp erosion NCI:C4639 SNOMEDCT_US_2016_03_01:276821000 UMLS_CUI:C0349538 anal melanoma malignant melanoma of anus (disorder) disease_ontology DOID:14145 malignant anus melanoma anal melanoma NCI2004_11_17:C4639 malignant melanoma of anus (disorder) SNOMEDCT_2005_07_31:276821000 ICD9CM:592.1 MESH:D053039 NCI:C114696 SNOMEDCT_US_2016_03_01:31054009 SNOMEDCT_US_2016_03_01:95573009 UMLS_CUI:C0041952 Ureteric calculus Ureteric stone calculus of ureter disease_ontology DOID:14146 ureterolithiasis Ureteric calculus SNOMEDCT_2005_07_31:155869008 Ureteric stone MTHICD9_2006:592.1 calculus of ureter ICD9CM_2006:592.1 MESH:D015799 NCI:C84744 OMIM:258870 SNOMEDCT_US_2016_03_01:314466003 SNOMEDCT_US_2016_03_01:314467007 SNOMEDCT_US_2016_03_01:367536002 SNOMEDCT_US_2016_03_01:87126009 UMLS_CUI:C0018425 Gyrate atrophy of the choroid and/or retina Ornithinemia with gyrate atrophy gyrate atrophy of the retina disease_ontology DOID:1415 OMIM mapping by NeuroDevNet. [LS]. gyrate atrophy Gyrate atrophy of the choroid and/or retina SNOMEDCT_2005_07_31:87126009 Ornithinemia with gyrate atrophy SNOMEDCT_2005_07_31:314466003 gyrate atrophy of the retina CSP2005:1849-9719 A spinal cancer that is located_in the spinal cord and derives_from lymphocytes. NCI:C5157 UMLS_CUI:C1336044 Lymphoma of the Spinal Cord disease_ontology spinal cord cancer DOID:14150 spinal cord lymphoma A spinal cancer that is located_in the spinal cord and derives_from lymphocytes. url:http://www.virtualmedicalcentre.com/diseases.asp?did=583 Lymphoma of the Spinal Cord NCI2004_11_17:C5157 NCI:C5158 UMLS_CUI:C1336045 melanoma of the Spinal Cord disease_ontology DOID:14151 spinal cord melanoma melanoma of the Spinal Cord NCI2004_11_17:C5158 NCI:C5152 UMLS_CUI:C1336049 sarcoma of the Spinal Cord disease_ontology DOID:14152 spinal cord sarcoma sarcoma of the Spinal Cord NCI2004_11_17:C5152 ICD9CM:377.32 SNOMEDCT_US_2016_03_01:51604006 UMLS_CUI:C0155301 Retrobulbar neuritis (acute) acute retrobulbar neuritis (disorder) disease_ontology DOID:14155 acute retrobulbar neuritis Retrobulbar neuritis (acute) ICD9CM_2006:377.32 acute retrobulbar neuritis (disorder) SNOMEDCT_2005_07_31:51604006 disease_ontology DOID:14157 malnutrition of mild degree true ICD10CM:G91.1 ICD9CM:331.4 MESH:D006849 NCI:C116347 SNOMEDCT_US_2016_03_01:230746009 SNOMEDCT_US_2016_03_01:82346000 UMLS_CUI:C0549423 disease_ontology DOID:14159 obstructive hydrocephalus secondary malignant neoplasm of anus (disorder) disease_ontology DOID:14163 metastatic malignant tumor to the anus true secondary malignant neoplasm of anus (disorder) SNOMEDCT_2005_07_31:94172001 ICD9CM:386.52 SNOMEDCT_US_2016_03_01:194373002 SNOMEDCT_US_2016_03_01:5311007 UMLS_CUI:C0155516 Bilateral hyperactive labyrinth (disorder) hyperactive bilateral labyrinthine dysfunction (disorder) hyperactive labyrinth, bilateral disease_ontology DOID:14165 bilateral hyperactive labyrinth Bilateral hyperactive labyrinth (disorder) SNOMEDCT_2005_07_31:5311007 hyperactive bilateral labyrinthine dysfunction (disorder) SNOMEDCT_2005_07_31:194373002 hyperactive labyrinth, bilateral ICD9CM_2006:386.52 ICD10CM:H31.9 ICD9CM:363.9 MESH:D015862 NCI:C34468 SNOMEDCT_US_2016_03_01:193431000 SNOMEDCT_US_2016_03_01:193480005 UMLS_CUI:C0008521 disease_ontology DOID:1417 choroid disease ICD10CM:I09.81 ICD9CM:398.91 SNOMEDCT_US_2016_03_01:82523003 UMLS_CUI:C0155582 Congestive rheumatic heart failure (disorder) Rheumatic heart failure Rheumatic heart failure (congestive) disease_ontology DOID:14172 rheumatic congestive heart failure Congestive rheumatic heart failure (disorder) SNOMEDCT_2005_07_31:82523003 Rheumatic heart failure MTHICD9_2006:398.91 Rheumatic heart failure (congestive) ICD9CM_2006:398.91 MESH:D018306 NCI:C3791 SNOMEDCT_US_2016_03_01:128858006 SNOMEDCT_US_2016_03_01:302832007 UMLS_CUI:C0206719 Neurolipocytoma disease_ontology DOID:14174 central neurocytoma Neurolipocytoma SNOMEDCT_2005_07_31:128858006 ICD10CM:Q85.8 MESH:D006623 NCI:C3105 OMIM:193300 SNOMEDCT_US_2016_03_01:46659004 UMLS_CUI:C0019562 Hippel Lindau syndrome Von Hippel-Lindau syndrome (VHL) Von Hippel-Lindau syndrome (disorder) von Hippel-Lindau syndrome disease_ontology DOID:14175 OMIM mapping confirmed by DO. [LS]. von Hippel-Lindau disease Hippel Lindau syndrome CSP2005:5000-0055 Von Hippel-Lindau syndrome (VHL) NCI2004_11_17:C3105 Von Hippel-Lindau syndrome (disorder) SNOMEDCT_2005_07_31:46659004 von Hippel-Lindau syndrome MTHICD9_2006:759.6 ICD10CM:D80.3 MESH:D017099 NCI:C27024 NCI:C27142 SNOMEDCT_US_2016_03_01:123785006 SNOMEDCT_US_2016_03_01:190981001 UMLS_CUI:C0162539 Immunoglobin G subclass deficiency Selective IgG Immunodeficiency Selective Immunoglobulin G Subclass deficiency Selective deficiency of IgG Selective immunoglobulin G deficiency (disorder) disease_ontology DOID:14176 selective IgG deficiency disease Immunoglobin G subclass deficiency SNOMEDCT_2005_07_31:123785006 Selective IgG Immunodeficiency NCI2004_11_17:C27142 Selective Immunoglobulin G Subclass deficiency NCI2004_11_17:C27024 Selective deficiency of IgG MTHICD9_2006:279.03 Selective immunoglobulin G deficiency (disorder) SNOMEDCT_2005_07_31:190981001 ICD9CM:279.04 SNOMEDCT_US_2016_03_01:190983003 SNOMEDCT_US_2016_03_01:267460002 UMLS_CUI:C1457897 Congenital hypogammaglobulinaemia Congenital hypogammaglobulinemia (finding) disease_ontology DOID:14177 congenital hypogammaglobulinemia Congenital hypogammaglobulinaemia SNOMEDCT_2005_07_31:190983003 Congenital hypogammaglobulinemia (finding) SNOMEDCT_2005_07_31:267460002 disease_ontology DOID:14178 immunodeficiency with increased IgM true A B cell deficiency that is that has material basis in a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. MESH:C537409 NCI:C3822 OMIM:300310 OMIM:300755 ORDO:47 SNOMEDCT_US_2016_03_01:116133005 SNOMEDCT_US_2016_03_01:190983003 SNOMEDCT_US_2016_03_01:65880007 UMLS_CUI:C0221026 BTK deficiency Bruton agammaglobulinemia tyrosine kinase deficiency Bruton's Sex-Linked Agammaglobulinemia Bruton's agammaglobulinaemia Bruton's type agammaglobulinemia X-linked agammaglobulinemia (disorder) disease_ontology DOID:14179 OMIM mapping confirmed by DO. [SN]. Bruton-type agammaglobulinemia A B cell deficiency that is that has material basis in a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. url:http://en.wikipedia.org/wiki/X-linked_agammaglobulinemia url:http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300 url:http://www.ncbi.nlm.nih.gov/gene/695? url:http://www.nlm.nih.gov/medlineplus/ency/article/001307.htm url:ttp://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300755 Bruton's Sex-Linked Agammaglobulinemia NCI2004_11_17:C3822 Bruton's agammaglobulinaemia SNOMEDCT_2005_07_31:190983003 Bruton's type agammaglobulinemia MTHICD9_2006:279.04 X-linked agammaglobulinemia (disorder) SNOMEDCT_2005_07_31:65880007 ICD10CM:M75.3 ICD9CM:726.11 SNOMEDCT_US_2016_03_01:239957000 SNOMEDCT_US_2016_03_01:27741009 SNOMEDCT_US_2016_03_01:699942000 UMLS_CUI:C0158303 disease_ontology DOID:14181 calcific tendinitis disease_ontology DOID:14182 metastatic tumor to the choroid true ICD10CM:G62.1 ICD9CM:357.5 MESH:D020269 NCI:C26926 SNOMEDCT_US_2016_03_01:123050003 SNOMEDCT_US_2016_03_01:155083006 SNOMEDCT_US_2016_03_01:7916009 UMLS_CUI:C0085677 Alcohol-related polyneuropathy Alcoholic polyneuropathy disease_ontology DOID:14183 alcoholic neuropathy Alcohol-related polyneuropathy SNOMEDCT_2005_07_31:155083006 Alcoholic polyneuropathy ICD9CM_2006:357.5 ICD10CM:G62.0 ICD9CM:357.6 SNOMEDCT_US_2016_03_01:7339009 UMLS_CUI:C0154762 disease_ontology DOID:14184 polyneuropathy due to drug ICD10CM:M75.0 ICD9CM:726.0 MESH:D002062 SNOMEDCT_US_2016_03_01:156658000 SNOMEDCT_US_2016_03_01:156664007 SNOMEDCT_US_2016_03_01:202837002 SNOMEDCT_US_2016_03_01:202847004 SNOMEDCT_US_2016_03_01:268087008 SNOMEDCT_US_2016_03_01:399114005 SNOMEDCT_US_2016_03_01:8753005 UMLS_CUI:C0311223 Adhesive capsulitis of shoulder adhesions-capsulitis,shoulder disease_ontology DOID:14188 frozen shoulder Adhesive capsulitis of shoulder ICD9CM_2006:726.0 adhesions-capsulitis,shoulder SNOMEDCT_2005_07_31:156658000 disease_ontology DOID:1419 residual schizophrenia subchronic state with acute exacerbation true Induced psychotic disorder Shared paranoid disorder Shared psychotic disorder disease_ontology DOID:14190 shared paranoid disease true Induced psychotic disorder SNOMEDCT_2005_07_31:61831009 Shared paranoid disorder SNOMEDCT_2005_07_31:191670008 Shared psychotic disorder ICD9CM_2006:297.3 Paranoid state, simple disease_ontology DOID:14191 simple paranoid state true Paranoid state, simple ICD9CM_2006:297.0 ICD9CM:726.12 SNOMEDCT_US_2016_03_01:202840002 SNOMEDCT_US_2016_03_01:41137001 UMLS_CUI:C0158304 disease_ontology DOID:14192 bicipital tenosynovitis ICD10CM:H27.13 ICD9CM:379.34 SNOMEDCT_US_2016_03_01:14169000 SNOMEDCT_US_2016_03_01:194161005 UMLS_CUI:C0155373 disease_ontology DOID:14199 posterior dislocation of lens Diplopia (disorder) Double vision diplopia disease_ontology DOID:14200 diplopia true Diplopia (disorder) SNOMEDCT_2005_07_31:24982008 Double vision MTHICD9_2006:368.2 diplopia CSP2005:1114-9612 adult onset dermatomyositis (disorder) disease_ontology DOID:14202 adult dermatomyositis adult onset dermatomyositis (disorder) SNOMEDCT_2005_07_31:402425006 MESH:D003882 NCI:C27576 SNOMEDCT_US_2016_03_01:1212005 UMLS_CUI:C0263666 Juvenile dermatomyositis childhood Dermatomyositis childhood type dermatomyositis (disorder) disease_ontology DOID:14203 childhood type dermatomyositis Juvenile dermatomyositis SNOMEDCT_2005_07_31:201446001 childhood Dermatomyositis NCI2004_11_17:C27576 childhood type dermatomyositis (disorder) SNOMEDCT_2005_07_31:1212005 DOID:14763 ICD10CM:E83.39 MESH:C562440 MESH:D007014 NCI:C26798 SNOMEDCT_US_2016_03_01:124431003 SNOMEDCT_US_2016_03_01:190859005 SNOMEDCT_US_2016_03_01:30174008 SNOMEDCT_US_2016_03_01:360792001 SNOMEDCT_US_2016_03_01:70848009 UMLS_CUI:C0020630 UMLS_CUI:C0220743 childhood hypophosphatasia (disorder) deficiency of alkaline phosphatase (disorder) deficiency of alkaline phosphatase (disorder) [Ambiguous] hypophospatasia, childhood disease_ontology DOID:14213 OMIM mapping confirmed by DO. [SN]. hypophosphatasia childhood hypophosphatasia (disorder) SNOMEDCT_2005_07_31:30174008 deficiency of alkaline phosphatase (disorder) SNOMEDCT_2005_07_31:360792001 deficiency of alkaline phosphatase (disorder) [Ambiguous] SNOMEDCT_2005_07_31:124431003 disease_ontology DOID:14215 hyperamylasemia true A purine-pyrimidine metabolic disorder that is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine. MESH:D054067 NCI:C3964 NCI:C84672 OMIM:274270 SNOMEDCT_US_2016_03_01:238016000 SNOMEDCT_US_2016_03_01:77365006 UMLS_CUI:C1959620 UMLS_CUI:C3495551 Dihydropyrimidine dehydrogenase deficiency (disorder) Dihydrouracil Dehydrogenase deficiency familial pyrimidinaemia thymine-uracilurea disease_ontology DOID:14218 dihydropyrimidine dehydrogenase deficiency A purine-pyrimidine metabolic disorder that is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine. url:http://en.wikipedia.org/wiki/Dihydropyrimidine_dehydrogenase_deficiency Dihydropyrimidine dehydrogenase deficiency (disorder) SNOMEDCT_2005_07_31:238016000 Dihydrouracil Dehydrogenase deficiency NCI2004_11_17:C3964 familial pyrimidinaemia SNOMEDCT_2005_07_31:77365006 A renal tubular transport disease characterized by excess levels of acid in the blood, due to a failure of the kidneys to appropriately acidify the urine. ICD10CM:N25.89 MESH:D000141 NCI:C28129 OMIM:179830 OMIM:267200 OMIM:602722 SNOMEDCT_US_2016_03_01:1776003 UMLS_CUI:C0001126 disease_ontology DOID:14219 Xref MGI. renal tubular acidosis A renal tubular transport disease characterized by excess levels of acid in the blood, due to a failure of the kidneys to appropriately acidify the urine. url:http://en.wikipedia.org/wiki/Renal_tubular_acidosis url:http://www.merckmanuals.com/professional/genitourinary_disorders/renal_transport_abnormalities/renal_tubular_acidosis_rta.html EFO:0000195 ICD10CM:E88.81 ICD9CM:277.7 MESH:D024821 NCI:C84442 OMIM:605552 SNOMEDCT_US_2016_03_01:190394009 SNOMEDCT_US_2016_03_01:237602007 UMLS_CUI:C0524620 abdominal obesity-metabolic syndrome 1 dysmetabolic syndrome X disease_ontology DOID:14221 OMIM mapping confirmed by DO. [SN]. metabolic syndrome X dysmetabolic syndrome X CSP2005:5003-0027 ICD10CM:E70.29 MESH:D009794 NCI:C84938 SNOMEDCT_US_2016_03_01:21924005 SNOMEDCT_US_2016_03_01:410042009 UMLS_CUI:C0028817 disease_ontology DOID:14223 ochronosis NCI:C35314 SNOMEDCT_US_2016_03_01:81089005 UMLS_CUI:C0264324 Calcification of trachea disease_ontology DOID:14224 tracheal calcification Calcification of trachea SNOMEDCT_2005_07_31:81089005 A frontal sinusitis which lasts for less than 4 weeks. ICD10CM:J01.1 ICD10CM:J01.10 ICD9CM:461.1 SNOMEDCT_US_2016_03_01:155500003 SNOMEDCT_US_2016_03_01:91038008 UMLS_CUI:C0155805 disease_ontology DOID:14225 acute frontal sinusitis A frontal sinusitis which lasts for less than 4 weeks. url:http://en.wikipedia.org/wiki/sinusitis url:http://www.merck.com/mmhe/sec19/ch221/ch221i.html url:http://www3.niaid.nih.gov/topics/sinusitis/overview.htm A male infertility disease characterized by the absence of any measurable level of sperm in semen. EFO:0000279 ICD10CM:N46.0 ICD10CM:N46.01 ICD9CM:606.0 MESH:D053713 NCI:C80076 OMIM:102530 OMIM:108420 OMIM:243060 OMIM:258150 OMIM:270960 OMIM:309120 OMIM:415000 OMIM:606766 OMIM:612997 OMIM:613957 OMIM:613958 OMIM:614822 OMIM:615081 OMIM:615413 OMIM:615841 OMIM:615842 ORDO:217034 SNOMEDCT_US_2016_03_01:145008007 SNOMEDCT_US_2016_03_01:155925000 SNOMEDCT_US_2016_03_01:167781002 SNOMEDCT_US_2016_03_01:198010009 SNOMEDCT_US_2016_03_01:425558002 SNOMEDCT_US_2016_03_01:48188009 UMLS_CUI:C0004509 spermatogenic failure disease_ontology DOID:14227 Xref MGI. azoospermia A male infertility disease characterized by the absence of any measurable level of sperm in semen. url:http://en.wikipedia.org/wiki/Azoospermia url:http://ghr.nlm.nih.gov/glossary=azoospermia ICD10CM:N46.1 ICD10CM:N46.11 ICD9CM:606.1 MESH:D009845 NCI:C34860 UMLS_CUI:C0028960 disease_ontology DOID:14228 oligospermia ICD10CM:H15.05 ICD9CM:379.04 SNOMEDCT_US_2016_03_01:26664005 UMLS_CUI:C0155354 disease_ontology DOID:14230 scleromalacia perforans ICD10CM:H05.81 ICD9CM:376.81 SNOMEDCT_US_2016_03_01:194033002 SNOMEDCT_US_2016_03_01:31021007 UMLS_CUI:C0155285 disease_ontology DOID:14233 orbital cyst A tularemia that results in formation of ulcerative lesions located_in gastrointestinal tract. The infection has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom muscle aches, and has_symptom vomiting. DOID:0050071 ICD9CM:021.1 ICD9CM:021.8 SNOMEDCT_US_2016_03_01:111834003 SNOMEDCT_US_2016_03_01:186292001 SNOMEDCT_US_2016_03_01:186296003 SNOMEDCT_US_2016_03_01:186298002 SNOMEDCT_US_2016_03_01:186299005 SNOMEDCT_US_2016_03_01:398599000 SNOMEDCT_US_2016_03_01:62769007 UMLS_CUI:C0029835 UMLS_CUI:C0152942 Enteric tularemia intestinal tularaemia disease_ontology DOID:14239 gastrointestinal tularemia A tularemia that results in formation of ulcerative lesions located_in gastrointestinal tract. The infection has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom muscle aches, and has_symptom vomiting. url:http://usgips.com/web/Download/LAMPS%20USCAP2003.pdf Enteric tularemia ICD9CM_2006:021.1 intestinal tularaemia SNOMEDCT_2005_07_31:186292001 A perichondritis of auricle which is persistent and long-lasting. ICD9CM:380.02 SNOMEDCT_US_2016_03_01:194195009 SNOMEDCT_US_2016_03_01:45431004 UMLS_CUI:C0155391 chronic perichondritis of pinna (disorder) chronic pinna perichondritis disease_ontology DOID:14243 chronic perichondritis of pinna A perichondritis of auricle which is persistent and long-lasting. url:http://www.nlm.nih.gov/medlineplus/ency/article/001253.htm chronic perichondritis of pinna (disorder) SNOMEDCT_2005_07_31:45431004 chronic pinna perichondritis SNOMEDCT_2005_07_31:194195009 ICD10CM:H04.21 ICD9CM:375.21 SNOMEDCT_US_2016_03_01:193984005 SNOMEDCT_US_2016_03_01:31788005 UMLS_CUI:C0155233 disease_ontology DOID:14244 epiphora due to excess lacrimation ICD10CM:H35.35 ICD9CM:362.53 SNOMEDCT_US_2016_03_01:14046000 UMLS_CUI:C0154850 Cystoid macular degeneration of retina disease_ontology DOID:14245 cystoid macular retinal degeneration Cystoid macular degeneration of retina ICD9CM_2006:362.53 A suppurative otitis media which is persistent and long-lasting. ICD10CM:H66.3 ICD9CM:382.3 SNOMEDCT_US_2016_03_01:155228005 SNOMEDCT_US_2016_03_01:194284006 SNOMEDCT_US_2016_03_01:232253005 SNOMEDCT_US_2016_03_01:38394007 UMLS_CUI:C0271454 chronic suppurative otitis media disease_ontology DOID:14247 chronic purulent otitis media A suppurative otitis media which is persistent and long-lasting. url:http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA128&lpg#v=onepage&q=&f=false chronic suppurative otitis media SNOMEDCT_2005_07_31:232253005 A chronic purulent otitis media which involves perforation in the attic region (pars flaccida of the tympanic membrane) or at the posterosuperior margin, with in-growth of squamous epithelium into the middle ear. This is caused as a result of poor ventilation of the middle ear and episodes of infection. ICD10CM:H66.2 ICD10CM:H66.20 ICD9CM:382.2 SNOMEDCT_US_2016_03_01:41954005 UMLS_CUI:C0155441 chronic atticoantral suppurative otitis media disease_ontology DOID:14248 chronic atticoantral disease A chronic purulent otitis media which involves perforation in the attic region (pars flaccida of the tympanic membrane) or at the posterosuperior margin, with in-growth of squamous epithelium into the middle ear. This is caused as a result of poor ventilation of the middle ear and episodes of infection. url:http://books.google.com/books?id=Dvl0V7DzoSMC&pg=PA114&lpg#v=onepage&q=&f=false chronic atticoantral suppurative otitis media ICD9CM_2006:382.2 NCI:C35666 SNOMEDCT_US_2016_03_01:266627003 SNOMEDCT_US_2016_03_01:85884009 UMLS_CUI:C0034223 Ureter abscess disease_ontology DOID:1425 pyoureter Ureter abscess NCI2004_11_17:C35666 A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability. ICD10CM:Q90 ICD10CM:Q90.9 ICD9CM:758.0 MESH:D004314 NCI:C101222 NCI:C2993 OMIM:190685 SNOMEDCT_US_2016_03_01:157019002 SNOMEDCT_US_2016_03_01:205614001 SNOMEDCT_US_2016_03_01:205618003 SNOMEDCT_US_2016_03_01:254263008 SNOMEDCT_US_2016_03_01:41040004 UMLS_CUI:C0013080 Complete trisomy 21 syndrome (disorder) Down's syndrome Down's syndrome - trisomy 21 Downs syndrome G Trisomy trisomy 21 syndrome disease_ontology DOID:14250 OMIM mapping confirmed by DO. [SN]. Down syndrome A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability. url:http://en.wikipedia.org/wiki/Down_syndrome url:http://ghr.nlm.nih.gov/condition/down-syndrome url:http://www.nichd.nih.gov/health/topics/down/Pages/default.aspx url:http://www.omim.org/entry/190685?search=down%20syndrome&highlight=down%20syndromic%20syndrome Complete trisomy 21 syndrome (disorder) SNOMEDCT_2005_07_31:41040004 Down's syndrome SNOMEDCT_2005_07_31:157019002 Down's syndrome - trisomy 21 SNOMEDCT_2005_07_31:205614001 Downs syndrome NCI2004_11_17:C2993 G Trisomy MTHICD9_2006:758.0 trisomy 21 syndrome CSP2005:1254-8068 ICD10CM:H35.51 ICD9CM:362.73 SNOMEDCT_US_2016_03_01:79556007 UMLS_CUI:C0154863 Vitreoretinal dystrophies disease_ontology DOID:14251 vitreoretinal dystrophy Vitreoretinal dystrophies ICD9CM_2006:362.73 ICD10CM:H35.54 ICD9CM:362.76 UMLS_CUI:C0154865 disease_ontology DOID:14252 dystrophies primarily involving the retinal pigment epithelium ICD9CM:362.71 UMLS_CUI:C0154861 disease_ontology DOID:14253 retinal dystrophy in systemic or cerebroretinal lipidoses An arthritis that is a rare from of inflammatory arthritis characterized by fevers, rash, and joint pain. ICD10CM:M06.1 MESH:D016706 SNOMEDCT_US_2016_03_01:201449008 SNOMEDCT_US_2016_03_01:201815006 SNOMEDCT_US_2016_03_01:239920006 UMLS_CUI:C0085253 adult onset Still's disease adult-onset Still disease disease_ontology DOID:14256 adult-onset Still's disease An arthritis that is a rare from of inflammatory arthritis characterized by fevers, rash, and joint pain. url:http://en.wikipedia.org/wiki/Adult-onset_Still%27s_disease url:http://www.mayoclinic.com/health/adult-stills-disease/DS00792 url:http://www.nlm.nih.gov/medlineplus/ency/article/000450.htm url:http://www.stillsdisease.org/ url:http://www.thedoctorwillseeyounow.com/content/arthritis/art1928.html adult onset Still's disease SNOMEDCT_2005_07_31:201815006 Leukemic reticuloendotheliosis involving lymph nodes of inguinal region and lower limb Leukemic reticuloendotheliosis of lymph nodes of inguinal region and lower limb (disorder) Leukemic reticuloendotheliosis of lymph nodes of inguinal region and/or lower limb (disorder) disease_ontology DOID:14258 leukemic reticuloendotheliosis of lymph nodes of inguinal region and lower limb true Leukemic reticuloendotheliosis involving lymph nodes of inguinal region and lower limb ICD9CM_2006:202.45 Leukemic reticuloendotheliosis of lymph nodes of inguinal region and lower limb (disorder) SNOMEDCT_2005_07_31:188649008 Leukemic reticuloendotheliosis of lymph nodes of inguinal region and/or lower limb (disorder) SNOMEDCT_2005_07_31:93149008 A urinary system disease that is located_in the ureter. MESH:D014515 NCI:C27148 UMLS_CUI:C0041954 disease_ontology DOID:1426 ureteral disease A urinary system disease that is located_in the ureter. url:http://www.nlm.nih.gov/medlineplus/ureteraldisorders.html An X-linked disease that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function. ICD10CM:Q99.2 ICD9CM:759.83 MESH:D005600 NCI:C84717 OMIM:300624 SNOMEDCT_US_2016_03_01:390007001 SNOMEDCT_US_2016_03_01:613003 UMLS_CUI:C0016667 FRAGILE X MENTAL RETARDATION SYNDROME MARKER X SYNDROME MARTIN-BELL SYNDROME disease_ontology DOID:14261 OMIM mapping confirmed by DO. [SN]. fragile X syndrome An X-linked disease that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function. url:http://en.wikipedia.org/wiki/Fragile_X_syndrome url:http://omim.org/entry/300624 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=908 A candidiasis that involves fungal infection of the mucous membrane of the mouth by Candida species, which is characterized by thick white or cream-colored deposits on inflamed mucosal membranes. ICD10CM:B37.0 ICD10CM:B37.9 ICD9CM:112.0 MESH:D002180 NCI:C28137 SNOMEDCT_US_2016_03_01:187005005 SNOMEDCT_US_2016_03_01:187006006 SNOMEDCT_US_2016_03_01:367093001 SNOMEDCT_US_2016_03_01:78048006 SNOMEDCT_US_2016_03_01:79740000 UMLS_CUI:C0006849 Candidiasis of mouth Oral moniliasis Thrush, oral thrush disease_ontology DOID:14262 oral candidiasis A candidiasis that involves fungal infection of the mucous membrane of the mouth by Candida species, which is characterized by thick white or cream-colored deposits on inflamed mucosal membranes. url:http://en.wikipedia.org/wiki/Oral_candidiasis Candidiasis of mouth ICD9CM_2006:112.0 Oral moniliasis SNOMEDCT_2005_07_31:187006006 Thrush, oral MTHICD9_2006:112.0 thrush NCI2004_11_17:C28137 Convulsions in newborn Convulsions in the newborn (disorder) Seizures in newborn disease_ontology DOID:14263 fits in newborn true Convulsions in newborn ICD9CM_2006:779.0 Convulsions in newborn SNOMEDCT_2005_07_31:157162003 Convulsions in newborn SNOMEDCT_2005_07_31:230436006 Convulsions in the newborn (disorder) SNOMEDCT_2005_07_31:87476004 Seizures in newborn MTHICD9_2006:779.0 A neonatal period electroclinical syndrome that is characterized by tonic-clonic seizures in newborns occurring within the first seven days of life and ceasing within the first 15 weeks of life and has_material_basis_in autosomal dominant inheritance of voltage-gated potassium channels or a chromosomal inversion. MESH:D020936 NCI:C84593 OMIM:121200 OMIM:121201 OMIM:269720 ORDO:1949 SNOMEDCT_US_2016_03_01:276724002 SNOMEDCT_US_2016_03_01:38281008 UMLS_CUI:C0270851 benign familial neonatal seizures benign neonatal convulsions disease_ontology DOID:14264 Xref MGI. benign neonatal seizures A neonatal period electroclinical syndrome that is characterized by tonic-clonic seizures in newborns occurring within the first seven days of life and ceasing within the first 15 weeks of life and has_material_basis_in autosomal dominant inheritance of voltage-gated potassium channels or a chromosomal inversion. url:http://en.wikipedia.org/wiki/Benign_familial_neonatal_epilepsy url:http://www.ncbi.nlm.nih.gov/books/NBK32534/ url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=140927 A pulmonary valve disease that occurs when the pulmonary valve is not strong enough to prevent backflow into the right ventricle. If it is secondary to pulmonary hypertension it is referred to as a Graham Steell murmur. DOID:11210 MESH:D011665 NCI:C50848 NCI:C51447 NCI:C62436 SNOMEDCT_US_2016_03_01:91434003 UMLS_CUI:C0034088 Pulmonic insufficiency NOS Pulmonic valve regurgitation (disorder) pulmonary incompetence pulmonary incompetence, non-rheumatic (disorder) pulmonary insufficiency following trauma and surgery pulmonary regurg. pulmonary regurgitation disease_ontology DOID:14265 Replacing outdated UMLS CUI. pulmonary valve insufficiency A pulmonary valve disease that occurs when the pulmonary valve is not strong enough to prevent backflow into the right ventricle. If it is secondary to pulmonary hypertension it is referred to as a Graham Steell murmur. url:http://en.wikipedia.org/wiki/pulmonary_insufficiency Pulmonic insufficiency NOS MTHICD9_2006:424.3 Pulmonic valve regurgitation (disorder) SNOMEDCT_2005_07_31:91434003 pulmonary incompetence, non-rheumatic (disorder) SNOMEDCT_2005_07_31:194995005 pulmonary regurg. SNOMEDCT_2005_07_31:155348001 pulmonary regurg. SNOMEDCT_2005_07_31:266299004 EFO:0004268 ICD10CM:K83.0 MESH:D015209 SNOMEDCT_US_2016_03_01:197443000 SNOMEDCT_US_2016_03_01:235917005 SNOMEDCT_US_2016_03_01:4032000 UMLS_CUI:C0008313 fibrosing cholangitis disease_ontology DOID:14268 sclerosing cholangitis fibrosing cholangitis CSP2005:5000-0057 ICD10CM:K83.0 NCI:C35336 SNOMEDCT_US_2016_03_01:197437002 SNOMEDCT_US_2016_03_01:69850007 UMLS_CUI:C0267924 Suppurative Cholangitis Suppurative cholangitis (disorder) disease_ontology DOID:14269 suppurative cholangitis Suppurative Cholangitis NCI2004_11_17:C35336 Suppurative cholangitis (disorder) SNOMEDCT_2005_07_31:69850007 Unspecified disorder of pancreatic internal secretion disorder of pancreatic internal secretion (disorder) disease_ontology DOID:1427 disorder of pancreatic internal secretion true Unspecified disorder of pancreatic internal secretion ICD9CM_2006:251.9 disorder of pancreatic internal secretion (disorder) SNOMEDCT_2005_07_31:111560008 ICD10CM:K83.0 NCI:C35372 SNOMEDCT_US_2016_03_01:26918003 UMLS_CUI:C0311273 Ascending Cholangitis Ascending cholangitis (disorder) disease_ontology DOID:14270 ascending cholangitis Ascending Cholangitis NCI2004_11_17:C35372 Ascending cholangitis (disorder) SNOMEDCT_2005_07_31:26918003 NCI:C35334 SNOMEDCT_US_2016_03_01:6215006 UMLS_CUI:C0267917 acute Cholangitis acute cholangitis (disorder) disease_ontology DOID:14271 acute cholangitis acute Cholangitis NCI2004_11_17:C35334 acute cholangitis (disorder) SNOMEDCT_2005_07_31:6215006 NCI:C34916 SNOMEDCT_US_2016_03_01:111373008 UMLS_CUI:C0031052 disease_ontology DOID:14272 pericholangitis ICD10CM:N90.5 ICD9CM:624.1 SNOMEDCT_US_2016_03_01:198382004 SNOMEDCT_US_2016_03_01:248861000 SNOMEDCT_US_2016_03_01:82614005 UMLS_CUI:C0156393 Atrophy of vulva disease_ontology DOID:14275 atrophic vulva Atrophy of vulva ICD9CM_2006:624.1 ICD10CM:M75.4 MESH:D019534 SNOMEDCT_US_2016_03_01:128498000 SNOMEDCT_US_2016_03_01:202849001 SNOMEDCT_US_2016_03_01:202851002 SNOMEDCT_US_2016_03_01:239960007 SNOMEDCT_US_2016_03_01:366831005 UMLS_CUI:C0376685 Impingement syndrome of shoulder region Impingement syndrome of shoulder region (disorder) Shoulder impingement syndrome (disorder) [Ambiguous] Subacromial impingement (disorder) disease_ontology DOID:14276 shoulder impingement syndrome Impingement syndrome of shoulder region SNOMEDCT_2005_07_31:202851002 Impingement syndrome of shoulder region SNOMEDCT_2005_07_31:366831005 Impingement syndrome of shoulder region (disorder) SNOMEDCT_2005_07_31:239960007 Shoulder impingement syndrome (disorder) [Ambiguous] SNOMEDCT_2005_07_31:128498000 Subacromial impingement (disorder) SNOMEDCT_2005_07_31:202849001 Arthropathy NOS, of the hand (disorder) Joint disorder NOS, of the hand (disorder) Unspecified disorder of hand joint disease_ontology DOID:14278 arthropathy of the hand true Arthropathy NOS, of the hand (disorder) SNOMEDCT_2005_07_31:202065001 Joint disorder NOS, of the hand (disorder) SNOMEDCT_2005_07_31:202639001 Unspecified disorder of hand joint ICD9CM_2006:719.94 ICD10CM:E16 ICD9CM:251 SNOMEDCT_US_2016_03_01:190427005 SNOMEDCT_US_2016_03_01:190450004 SNOMEDCT_US_2016_03_01:237574003 SNOMEDCT_US_2016_03_01:267385007 UMLS_CUI:C0154189 disease_ontology DOID:1428 endocrine pancreas disease ICD10CM:M89.4 MESH:D010004 NCI:C85023 OMIM:259100 SNOMEDCT_US_2016_03_01:201124000 SNOMEDCT_US_2016_03_01:223726008 SNOMEDCT_US_2016_03_01:239052008 SNOMEDCT_US_2016_03_01:88220006 UMLS_CUI:C0029411 Pachydermoperiostosis of nail Pachydermoperiostosis of nail (disorder) Pachydermoperiostosis of nail [Ambiguous] Pachydermoperiostosis syndrome (disorder) disease_ontology DOID:14283 OMIM mapping confirmed by DO. [SN]. primary hypertrophic osteoarthropathy Pachydermoperiostosis of nail SNOMEDCT_2005_07_31:201124000 Pachydermoperiostosis of nail (disorder) SNOMEDCT_2005_07_31:223726008 Pachydermoperiostosis of nail [Ambiguous] SNOMEDCT_2005_07_31:239052008 Pachydermoperiostosis syndrome (disorder) SNOMEDCT_2005_07_31:88220006 MESH:D046788 UMLS_CUI:C0877149 disease_ontology DOID:14284 patellofemoral pain syndrome ICD10CM:M14.6 ICD9CM:713.5 MESH:D001177 SNOMEDCT_US_2016_03_01:156514009 SNOMEDCT_US_2016_03_01:201734004 SNOMEDCT_US_2016_03_01:239824003 SNOMEDCT_US_2016_03_01:268056006 SNOMEDCT_US_2016_03_01:359554008 SNOMEDCT_US_2016_03_01:60730005 SNOMEDCT_US_2016_03_01:67536000 SNOMEDCT_US_2016_03_01:77602000 UMLS_CUI:C0003892 Arthropathy associated with neurological disorder Charcot's arthropathy Neuropathic arthropathy (& Charcot's) disease_ontology Charcot's joint DOID:14286 neurogenic arthropathy Arthropathy associated with neurological disorder ICD9CM_2006:713.5 Charcot's arthropathy SNOMEDCT_2005_07_31:239824003 Neuropathic arthropathy (& Charcot's) SNOMEDCT_2005_07_31:201734004 Charcot's joint SNOMEDCT_2005_07_31:156514009 ICD10CM:H15.02 ICD9CM:379.06 SNOMEDCT_US_2016_03_01:91612009 UMLS_CUI:C0155356 disease_ontology DOID:14287 brawny scleritis A tricuspid valve disease that is a congenital heart defect in which the septal leaflet of the tricuspid valve is displaced towards the apex of the right ventricle of the heart. ICD10CM:Q22.5 ICD9CM:746.2 MESH:D004437 NCI:C84681 OMIM:224700 SNOMEDCT_US_2016_03_01:1796006 SNOMEDCT_US_2016_03_01:204357006 UMLS_CUI:C0013481 Ebstein's anomaly Ebstein's anomaly (disorder) [Ambiguous] Ebstein's anomaly of common atrioventricular valve (disorder) Ebstein's anomaly of right atrioventricular valve (disorder) Ebstein's anomaly of tricuspid valve (disorder) disease_ontology DOID:14289 OMIM mapping confirmed by DO. [SN]. Ebstein anomaly A tricuspid valve disease that is a congenital heart defect in which the septal leaflet of the tricuspid valve is displaced towards the apex of the right ventricle of the heart. url:http://en.wikipedia.org/wiki/Ebstein_anomaly Ebstein's anomaly ICD9CM_2006:746.2 Ebstein's anomaly (disorder) [Ambiguous] SNOMEDCT_2005_07_31:1796006 Ebstein's anomaly of common atrioventricular valve (disorder) SNOMEDCT_2005_07_31:253443005 Ebstein's anomaly of right atrioventricular valve (disorder) SNOMEDCT_2005_07_31:253468007 Ebstein's anomaly of tricuspid valve (disorder) SNOMEDCT_2005_07_31:204357006 MESH:D044542 NCI:C84820 OMIM:151100 OMIM:611554 OMIM:613707 SNOMEDCT_US_2016_03_01:111306001 UMLS_CUI:C0175704 Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome Cardiocutaneous syndrome Generalized lentiginosis (disorder) Gorlin syndrome II Lentiginosis profusa syndrome Moynahan syndrome Multiple lentigines syndrome (disorder) Progressive cardiomyopathic lentiginosis disease_ontology LEOPARD syndrome DOID:14291 OMIM mapping confirmed by DO. [SN]. LEOPARD syndrome Generalized lentiginosis (disorder) SNOMEDCT_2005_07_31:403537000 Multiple lentigines syndrome (disorder) SNOMEDCT_2005_07_31:111306001 LEOPARD syndrome CSP2005:0723-1051 ICD10CM:N90.4 ICD9CM:624.0 NCI:C34565 SNOMEDCT_US_2016_03_01:198378001 SNOMEDCT_US_2016_03_01:198381006 SNOMEDCT_US_2016_03_01:51689003 UMLS_CUI:C0013426 Dystrophy of vulva disease_ontology DOID:14292 vulvar dystrophy Dystrophy of vulva SNOMEDCT_2005_07_31:51689003 A pleural empyema which involves presence of pus in the pleural cavity and calcified visceral pleura. It results from a large number of mycobacteria spilling into the pleural space, usually from rupture of a cavity or an adjacent paranchymal focus via a bronchopleural fistula. MESH:D004654 NCI:C34575 SNOMEDCT_US_2016_03_01:14527007 SNOMEDCT_US_2016_03_01:186184002 UMLS_CUI:C0014014 Tuberculous empyema (& pleural) disease_ontology DOID:14305 tuberculous empyema A pleural empyema which involves presence of pus in the pleural cavity and calcified visceral pleura. It results from a large number of mycobacteria spilling into the pleural space, usually from rupture of a cavity or an adjacent paranchymal focus via a bronchopleural fistula. url:http://erj.ersjournals.com/cgi/reprint/10/4/942 url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=empyema Tuberculous empyema (& pleural) SNOMEDCT_2005_07_31:186184002 MESH:D000796 NCI:C7393 SNOMEDCT_US_2016_03_01:254791004 SNOMEDCT_US_2016_03_01:400131007 UMLS_CUI:C0002989 Angiolymphoid Cutaneous hyperplasia epithelioid hemangioma of skin (disorder) disease_ontology DOID:14308 skin epithelioid hemangioma Angiolymphoid Cutaneous hyperplasia NCI2004_11_17:C7393 epithelioid hemangioma of skin (disorder) SNOMEDCT_2005_07_31:254791004 epithelioid hemangioma of skin (disorder) SNOMEDCT_2005_07_31:400131007 A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Norovirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom vomiting, has_symptom watery diarrhea, has_symptom abdominal cramps, has_symptom nausea, and has_symptom fever. DOID:11749 DOID:2330 calcivirus enteritis norwalk virus enteritis small round virus enteritis disease_ontology DOID:14311 Norovirus gastroenteritis true A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Norovirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom vomiting, has_symptom watery diarrhea, has_symptom abdominal cramps, has_symptom nausea, and has_symptom fever. url:http://www.cdc.gov/ncidod/dvrd/revb/gastro/norovirus-factsheet.htm Non-toxic uninodular goiter (disorder) Non-toxic uninodular goiter (disorder) [Ambiguous] Non-toxic uninodular goitre disease_ontology DOID:14312 nontoxic uninodular goiter true Non-toxic uninodular goiter (disorder) SNOMEDCT_2005_07_31:190237002 Non-toxic uninodular goiter (disorder) [Ambiguous] SNOMEDCT_2005_07_31:76917005 Non-toxic uninodular goitre SNOMEDCT_2005_07_31:154652001 Nodule of the Thyroid gland Thyroid nodule Thyroid nodule (disorder) disease_ontology DOID:14313 thyroid nodule true Nodule of the Thyroid gland NCI2004_11_17:C3415 Thyroid nodule MTHICD9_2006:241.0 Thyroid nodule SNOMEDCT_2005_07_31:190234009 Thyroid nodule SNOMEDCT_2005_07_31:76917005 Thyroid nodule (disorder) SNOMEDCT_2005_07_31:237495005 A pneumonia accompanied by inflammation of the pleura and accumulation of pus in the pleural space caused by bacteria. MESH:D011001 SNOMEDCT_US_2016_03_01:60485005 UMLS_CUI:C0032241 disease_ontology DOID:14319 pleuropneumonia A pneumonia accompanied by inflammation of the pleura and accumulation of pus in the pleural space caused by bacteria. url:http://www.merck.com/mmhe/sec04/ch052/ch052b.html?qt=pleural%20pneumonia&alt=sh url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=pleuropneumonia ICD10CM:H54 ICD9CM:369 SNOMEDCT_US_2016_03_01:155146008 SNOMEDCT_US_2016_03_01:155150001 SNOMEDCT_US_2016_03_01:193698004 SNOMEDCT_US_2016_03_01:267729001 UMLS_CUI:C0155020 disease_ontology DOID:1432 blindness An anxiety disorder that is characterized by long-lasting anxiety that is not focused on any one object or situation. ICD10CM:F41.1 ICD9CM:300.02 NCI:C92622 SNOMEDCT_US_2016_03_01:191706008 SNOMEDCT_US_2016_03_01:192401002 SNOMEDCT_US_2016_03_01:21897009 UMLS_CUI:C0270549 disease_ontology DOID:14320 generalized anxiety disorder An anxiety disorder that is characterized by long-lasting anxiety that is not focused on any one object or situation. url:http://en.wikipedia.org/wiki/Anxiety_disorder ICD10CM:Q87.4 ICD10CM:Q87.40 ICD9CM:759.82 MESH:D008382 NCI:C34807 OMIM:154700 SNOMEDCT_US_2016_03_01:157024004 SNOMEDCT_US_2016_03_01:157033002 SNOMEDCT_US_2016_03_01:19346006 SNOMEDCT_US_2016_03_01:268359006 UMLS_CUI:C0024796 Marfan's syndrome disease_ontology DOID:14323 OMIM mapping confirmed by DO. [SN]. Marfan syndrome Marfan's syndrome SNOMEDCT_2005_07_31:268359006 A malaria caused by a parasite Plasmodium malariae, which is marked by recurrence of paroxysms at 72-hour intervals. ICD10CM:B52 ICD10CM:B52.9 ICD9CM:084.2 NCI:C34799 SNOMEDCT_US_2016_03_01:27618009 UMLS_CUI:C0024536 Malaria by Plasmodium malariae Quartan Malaria disease_ontology DOID:14324 Plasmodium malariae malaria A malaria caused by a parasite Plasmodium malariae, which is marked by recurrence of paroxysms at 72-hour intervals. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=malariae%20malaria Malaria by Plasmodium malariae MTHICD9_2006:084.2 Quartan Malaria NCI2004_11_17:C34799 A malaria that involves infection with more than one species of Plasmodium at the same time. ICD9CM:084.5 SNOMEDCT_US_2016_03_01:21070001 UMLS_CUI:C0153121 Malaria fever by more than one parasite malaria by more than one parasite disease_ontology DOID:14325 mixed malaria A malaria that involves infection with more than one species of Plasmodium at the same time. url:http://www.ncbi.nlm.nih.gov/pubmed/15105024 Malaria fever by more than one parasite MTHICD9_2006:084.5 A malaria characterized as a vector-borne infectious disease of birds caused by protozoan parasites Plasmodium relictum, Plasmodium anasum or Plasmodium gallinaceum, which are transmitted by Culex quinquefasciatus mosquitoes, causing anemia. Avian malaria (disorder) disease_ontology DOID:14326 avian malaria true A malaria characterized as a vector-borne infectious disease of birds caused by protozoan parasites Plasmodium relictum, Plasmodium anasum or Plasmodium gallinaceum, which are transmitted by Culex quinquefasciatus mosquitoes, causing anemia. url:http://en.wikipedia.org/wiki/Avian_malaria Avian malaria (disorder) SNOMEDCT_2005_07_31:1498006 Gonococcal pericarditis (disorder) disease_ontology DOID:14327 gonococcal pericarditis true Gonococcal pericarditis (disorder) SNOMEDCT_2005_07_31:90428001 A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions. EFO:0002508 ICD10CM:G20 ICD9CM:332 ICD9CM:332.0 KEGG:05012 MESH:D010300 NCI:C26845 OMIM:168600 OMIM:300557 OMIM:556500 OMIM:602404 OMIM:606852 OMIM:613164 ORDO:2828 SNOMEDCT_US_2016_03_01:154999006 SNOMEDCT_US_2016_03_01:155000006 SNOMEDCT_US_2016_03_01:155002003 SNOMEDCT_US_2016_03_01:192825001 SNOMEDCT_US_2016_03_01:192831003 SNOMEDCT_US_2016_03_01:49049000 UMLS_CUI:C0030567 Parkinson disease paralysis agitans disease_ontology DOID:14330 Xref MGI. OMIM mapping confirmed by DO. [SN]. Parkinson's disease A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions. url:http://en.wikipedia.org/wiki/Parkinson%27s_disease paralysis agitans CSP2005:2057-3689 ICD10CM:G21.3 MESH:D010301 NCI:C34898 SNOMEDCT_US_2016_03_01:192828004 SNOMEDCT_US_2016_03_01:19972008 UMLS_CUI:C0030568 Postencephalitic Parkinsonism Postencephalitic parkinsonism Postencephalitic parkinsonism (disorder) disease_ontology DOID:14332 postencephalitic Parkinson disease Postencephalitic Parkinsonism NCI2004_11_17:C34898 Postencephalitic parkinsonism SNOMEDCT_2005_07_31:192828004 Postencephalitic parkinsonism (disorder) SNOMEDCT_2005_07_31:19972008 ICD10CM:E28.0 ICD9CM:256.0 NCI:C113344 SNOMEDCT_US_2016_03_01:190533004 SNOMEDCT_US_2016_03_01:37295009 UMLS_CUI:C0154209 hyperestrogenism disease_ontology DOID:14336 estrogen excess hyperestrogenism ICD9CM_2006:256.0 A Pseudomonas infectious disease that is caused by a Gram-negative bacterium Pseudomonas aeruginosa resulting in pulmonary edema. This bacterium releases immunogenic bacterial components that can gain access to airway epithelium and immune cells in the lung thus causing airway inflammation. P. aeruginosa is the common cause of hospital acquired and ventilator-associated pneumonias. Pneumonia due to Pseudomonas Pneumonia due to Pseudomonas (disorder) disease_ontology DOID:14338 Pseudomonal pneumonia true A Pseudomonas infectious disease that is caused by a Gram-negative bacterium Pseudomonas aeruginosa resulting in pulmonary edema. This bacterium releases immunogenic bacterial components that can gain access to airway epithelium and immune cells in the lung thus causing airway inflammation. P. aeruginosa is the common cause of hospital acquired and ventilator-associated pneumonias. url:http://en.wikipedia.org/wiki/Pseudomonas_aeruginosa url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2425928/pdf/postmedj00237-0064.pdf Pneumonia due to Pseudomonas ICD9CM_2006:482.1 Pneumonia due to Pseudomonas (disorder) SNOMEDCT_2005_07_31:41381004 Paraphrenia Paraphrenia (disorder) disease_ontology DOID:14339 paraphrenia true Paraphrenia ICD9CM_2006:297.2 Paraphrenia NCI2004_11_17:C35721 Paraphrenia SNOMEDCT_2005_07_31:154869001 Paraphrenia SNOMEDCT_2005_07_31:268748000 Paraphrenia (disorder) SNOMEDCT_2005_07_31:26472000 ICD10CM:E06.0 MESH:D013969 SNOMEDCT_US_2016_03_01:25476006 SNOMEDCT_US_2016_03_01:3511005 UMLS_CUI:C0040150 Infectious thyroiditis (disorder) Suppurative thyroiditis acute suppurative thyroiditis (disorder) disease_ontology DOID:14350 suppurative thyroiditis Infectious thyroiditis (disorder) SNOMEDCT_2005_07_31:3511005 Suppurative thyroiditis MTHICD9_2006:245.0 acute suppurative thyroiditis (disorder) SNOMEDCT_2005_07_31:25476006 NCI:C35827 UMLS_CUI:C1335787 Riedel fibrosing thyroiditis disease_ontology DOID:14351 Riedel's fibrosing thyroiditis ICD10CM:E06.0 ICD9CM:245.0 SNOMEDCT_US_2016_03_01:154665005 SNOMEDCT_US_2016_03_01:190293001 SNOMEDCT_US_2016_03_01:190295008 UMLS_CUI:C0001360 acute thyroiditis (disorder) acute thyroiditis NOS (disorder) disease_ontology DOID:14353 acute thyroiditis acute thyroiditis (disorder) SNOMEDCT_2005_07_31:190293001 acute thyroiditis NOS (disorder) SNOMEDCT_2005_07_31:190295008 ICD10CM:H18.71 ICD9CM:371.71 SNOMEDCT_US_2016_03_01:14748007 UMLS_CUI:C0155135 disease_ontology DOID:1436 corneal ectasia A opisthorchiasis that involves parasitic infection of the liver, biliary ducts, pancreas and pancreatic ducts by Opisthorchis viverrini. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and chlolangiocarcinoma. Infection by Opisthorchis viverrini (disorder) Opisthorchis Viverrini Infection disease_ontology DOID:14360 Opisthorchis viverrini infectious disease true A opisthorchiasis that involves parasitic infection of the liver, biliary ducts, pancreas and pancreatic ducts by Opisthorchis viverrini. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and chlolangiocarcinoma. url:http://www.dpd.cdc.gov/dpdx/HTML/Opisthorchiasis.htm Infection by Opisthorchis viverrini (disorder) SNOMEDCT_2005_07_31:90281006 Opisthorchis Viverrini Infection NCI2004_11_17:C39295 Congenital syphilitic meningitis (disorder) disease_ontology DOID:14363 congenital syphilitic meningitis true Congenital syphilitic meningitis (disorder) SNOMEDCT_2005_07_31:6267005 An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy. DOID:1668 ICD10CM:E71.41 ICD10CM:E71.42 ICD9CM:277.81 ICD9CM:277.82 MESH:C536778 NCI:C98864 OMIM:212140 SNOMEDCT_US_2016_03_01:21764004 UMLS_CUI:C0342788 UMLS_CUI:C1260388 carnitine transporter deficiency carnitine uptake defect deficiency of plasma-membrane carnitine transporter primary carnitine deficiency renal carnitine transport defect (disorder) disease_ontology DOID:14365 OMIM mapping confirmed by DO. [SN]. systemic primary carnitine deficiency disease An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy. url:http://en.wikipedia.org/wiki/Carnitine_deficiency primary carnitine deficiency ICD9CM_2006:277.81 renal carnitine transport defect (disorder) SNOMEDCT_2005_07_31:21764004 A scabies that involves infestation of human itch mite Sarcoptes scabiei type hominis in immunocompromised and elderly persons, which is characterized by vesicles and formation of thick crusts over the skin, accompanied by abundant mites but only slight itching. NCI:C34855 SNOMEDCT_US_2016_03_01:128870005 SNOMEDCT_US_2016_03_01:187215008 SNOMEDCT_US_2016_03_01:67172004 UMLS_CUI:C0028425 Crusted scabies disease_ontology DOID:14374 norwegian scabies A scabies that involves infestation of human itch mite Sarcoptes scabiei type hominis in immunocompromised and elderly persons, which is characterized by vesicles and formation of thick crusts over the skin, accompanied by abundant mites but only slight itching. url:http://www.dpd.cdc.gov/dpdx/HTML/Scabies.htm Crusted scabies SNOMEDCT_2005_07_31:128870005 A cerebrum cancer that is located_in the parietal lobe. DOID:14383 ICD10CM:C71.3 ICD9CM:191.3 NCI:C5573 SNOMEDCT_US_2016_03_01:126956001 SNOMEDCT_US_2016_03_01:363469001 SNOMEDCT_US_2016_03_01:93946000 UMLS_CUI:C0153637 UMLS_CUI:C1263888 malignant neoplasm of parietal lobe tumor of Parietal Lobe disease_ontology DOID:14384 parietal lobe neoplasm A cerebrum cancer that is located_in the parietal lobe. url:http://en.wikipedia.org/wiki/Parietal_lobe tumor of Parietal Lobe NCI2004_11_17:C5573 MESH:D011776 NCI:C119028 SNOMEDCT_US_2016_03_01:144593007 SNOMEDCT_US_2016_03_01:167358001 SNOMEDCT_US_2016_03_01:275765006 SNOMEDCT_US_2016_03_01:4800001 UMLS_CUI:C0034359 Pus cells in urine disease_ontology DOID:1439 pyuria Pus cells in urine SNOMEDCT_2005_07_31:144593007 A thrombophlebitis that is characterized by repeated occurances of thrombophlebitis in different locations. ICD10CM:I82.1 ICD9CM:453.1 SNOMEDCT_US_2016_03_01:155456002 SNOMEDCT_US_2016_03_01:155491005 SNOMEDCT_US_2016_03_01:31268005 UMLS_CUI:C0152250 Thrombophlebitis migrans (disorder) disease_ontology DOID:14392 thrombophlebitis migrans A thrombophlebitis that is characterized by repeated occurances of thrombophlebitis in different locations. url:http://en.wikipedia.org/wiki/Thrombophlebitis Thrombophlebitis migrans (disorder) SNOMEDCT_2005_07_31:31268005 A dysentery that involves protozoan infection. ICD10CM:A07.8 ICD9CM:007.8 SNOMEDCT_US_2016_03_01:186127007 SNOMEDCT_US_2016_03_01:187279007 UMLS_CUI:C0152507 disease_ontology DOID:14397 protozoal dysentery A dysentery that involves protozoan infection. url:http://en.wikipedia.org/wiki/Dysentery An autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has_material_basis_in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene. MESH:D017827 NCI:C84830 OMIM:109150 SNOMEDCT_US_2016_03_01:91952008 UMLS_CUI:C0024408 Azorean disease MJD spinocerebellar ataxia 3 spinocerebellar ataxia type 3 disease_ontology DOID:1440 OMIM mapping confirmed by DO. [SN]. Machado-Joseph disease An autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has_material_basis_in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene. url:http://en.wikipedia.org/wiki/Machado%E2%80%93Joseph_disease url:http://omim.org/entry/109150 url:http://rarediseases.org/rare-disease-information/rare-diseases/byID/110/viewAbstract Azorean disease SNOMEDCT_2005_07_31:91952008 MESH:D019559 NCI:C62578 SNOMEDCT_US_2016_03_01:87730004 UMLS_CUI:C0343084 Capillary leak syndrome (disorder) disease_ontology DOID:14400 capillary leak syndrome Capillary leak syndrome (disorder) SNOMEDCT_2005_07_31:87730004 Cutis Marmorata Cutis marmorata (disorder) disease_ontology DOID:14401 cutis marmorata true Cutis Marmorata NCI2004_11_17:C3923 Cutis marmorata (disorder) SNOMEDCT_2005_07_31:26825009 ICD10CM:G62.81 ICD9CM:357.82 MESH:D011115 SNOMEDCT_US_2016_03_01:230594005 UMLS_CUI:C0393851 disease_ontology DOID:14402 critical illness polyneuropathy A hereditary ataxia that has_material_basis_in autosomal dominant inheritance. DOID:2478 ICD9CM:334.3 MESH:D020754 NCI:C82341 SNOMEDCT_US_2016_03_01:129609000 UMLS_CUI:C0029534 UMLS_CUI:C0087012 spinocerebellar ataxia disease_ontology DOID:1441 autosomal dominant cerebellar ataxia A hereditary ataxia that has_material_basis_in autosomal dominant inheritance. url:http://www.ncbi.nlm.nih.gov/books/NBK1138/ url:http://www.ncbi.nlm.nih.gov/books/NBK22234/ ICD9CM:386.56 SNOMEDCT_US_2016_03_01:194377001 SNOMEDCT_US_2016_03_01:2058001 UMLS_CUI:C0155520 Bilateral loss of labyrinthine reactivity (disorder) Labyrinthine bilateral reactive loss (disorder) Loss of labyrinthine reactivity, bilateral disease_ontology DOID:14413 labyrinthine bilateral reactive loss Bilateral loss of labyrinthine reactivity (disorder) SNOMEDCT_2005_07_31:2058001 Labyrinthine bilateral reactive loss (disorder) SNOMEDCT_2005_07_31:194377001 Loss of labyrinthine reactivity, bilateral ICD9CM_2006:386.56 An osteochondrosis that results_in death and fracture located_in hip joint. DOID:14561 ICD10CM:M91.2 ICD10CM:M91.3 MESH:D007873 NCI:C34766 OMIM:150600 SNOMEDCT_US_2016_03_01:111255008 SNOMEDCT_US_2016_03_01:156817009 SNOMEDCT_US_2016_03_01:15739006 SNOMEDCT_US_2016_03_01:203365001 SNOMEDCT_US_2016_03_01:203367009 SNOMEDCT_US_2016_03_01:203371007 SNOMEDCT_US_2016_03_01:203372000 SNOMEDCT_US_2016_03_01:240169001 SNOMEDCT_US_2016_03_01:240241003 SNOMEDCT_US_2016_03_01:270545000 UMLS_CUI:C0022441 UMLS_CUI:C0023234 Calve - Perthes' disease Coxa plana Juvenile osteochond-hip/pelvis Juvenile osteochondrosis of hip and/or pelvis (disorder) Perthe's disease Perthes disease Pseudocoxalgia juvenile osteochondrosis of hip and pelvis osteochondrosis of Legg-Calve-Perthes pseudocoxalgia disease_ontology Legg-Calve-Perthes symptom DOID:14415 OMIM mapping confirmed by DO. [SN]. Legg-Calve-Perthes disease An osteochondrosis that results_in death and fracture located_in hip joint. url:http://en.wikipedia.org/wiki/Legg%E2%80%93Calv%C3%A9%E2%80%93Perthes_syndrome url:http://www.medcyclopaedia.com/library/topics/volume_iii_1/l/legg_calv_perthes_disease.aspx url:http://www.wheelessonline.com/ortho/legg_calve_perthes_disease Calve - Perthes' disease SNOMEDCT_2005_07_31:203367009 Coxa plana SNOMEDCT_2005_07_31:203371007 Juvenile osteochond-hip/pelvis SNOMEDCT_2005_07_31:156817009 SNOMEDCT_2005_07_31:270545000 Juvenile osteochondrosis of hip and/or pelvis (disorder) SNOMEDCT_2005_07_31:15739006 Perthe's disease SNOMEDCT_2005_07_31:111255008 Perthe's disease SNOMEDCT_2005_07_31:156817009 Perthe's disease SNOMEDCT_2005_07_31:203372000 Perthe's disease SNOMEDCT_2005_07_31:240169001 Perthe's disease SNOMEDCT_2005_07_31:270545000 Perthes disease NCI2004_11_17:C34766 Pseudocoxalgia SNOMEDCT_2005_07_31:15739006 osteochondrosis of Legg-Calve-Perthes MTHICD9_2006:732.1 pseudocoxalgia CSP2005:2715-2772 A parasitic helminthiasis infectious disease that involves parasitic infection by the larvae of the nematode Dracunculus medinensis, which are transmitted to humans by drinking water containing copepods infected with the larvae. The female, which contains larvae, burrows into the deeper connective tissues or adjacent to long bones or joints of the extremities. The worm emerges as a whitish filament in the center of a painful ulcer, accompanied by inflammation and frequently by secondary bacterial infection. ICD10CM:B72 ICD9CM:125.7 MESH:D004320 NCI:C84677 SNOMEDCT_US_2016_03_01:396334002 SNOMEDCT_US_2016_03_01:48874008 UMLS_CUI:C0013100 Dracontiasis Infection by Dracunculus medinensis Infection by Dracunculus medinensis (disorder) disease_ontology DOID:14418 dracunculiasis A parasitic helminthiasis infectious disease that involves parasitic infection by the larvae of the nematode Dracunculus medinensis, which are transmitted to humans by drinking water containing copepods infected with the larvae. The female, which contains larvae, burrows into the deeper connective tissues or adjacent to long bones or joints of the extremities. The worm emerges as a whitish filament in the center of a painful ulcer, accompanied by inflammation and frequently by secondary bacterial infection. url:http://en.wikipedia.org/wiki/Dracunculiasis url:http://www.dpd.cdc.gov/dpdx/HTML/Dracunculiasis.htm Dracontiasis ICD9CM_2006:125.7 Infection by Dracunculus medinensis MTHICD9_2006:125.7 Infection by Dracunculus medinensis (disorder) SNOMEDCT_2005_07_31:396334002 Infection by Dracunculus medinensis (disorder) SNOMEDCT_2005_07_31:48874008 A mansonelliasis that involves parasitic infection by the nematode Mansonella ozzardi, which resides in the subcutaneous tissues causing arthralgias, headaches, fever, pulmonary symptoms, adenopathy, hepatomegaly, and pruritus. Both midges and blackflies transmit the disease. Filariasis ozzardi infection Mansonella Ozzardi Infection Ozzardian filariasis (disorder) disease_ontology DOID:14419 Mansonella ozzardi infectious disease true A mansonelliasis that involves parasitic infection by the nematode Mansonella ozzardi, which resides in the subcutaneous tissues causing arthralgias, headaches, fever, pulmonary symptoms, adenopathy, hepatomegaly, and pruritus. Both midges and blackflies transmit the disease. url:http://www.dpd.cdc.gov/dpdx/HTML/Filariasis.htm Filariasis ozzardi infection ICD9CM_2006:125.5 Mansonella Ozzardi Infection NCI2004_11_17:C34612 Ozzardian filariasis (disorder) SNOMEDCT_2005_07_31:30865009 A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions. ICD10CM:G31.81 MESH:D002549 NCI:C35257 OMIM:203700 SNOMEDCT_US_2016_03_01:20415001 UMLS_CUI:C0205710 ALPERS PROGRESSIVE INFANTILE POLIODYSTROPHY ALPERS-HUTTENLOCHER SYNDROME Alper's syndrome Alpers' disease or gray-matter degeneration MITOCHONDRIAL DNA DEPLETION SYNDROME 4A progressive sclerosing poliodystrophy disease_ontology DOID:1442 OMIM mapping confirmed by DO. [SN]. Alpers syndrome A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions. url:http://www.ninds.nih.gov/disorders/alpersdisease/alpersdisease.htm Alper's syndrome NCI2004_11_17:C35257 Alpers' disease or gray-matter degeneration MTHICD9_2006:330.8 progressive sclerosing poliodystrophy SNOMEDCT_2005_07_31:20415001 A filarial elephantiasis that involves parasitic infection by the nematode Brugia malayi, which inhabits the lymphatics. The symptoms include fever, lymphadenitis, lymphangitis, lymphedema, and secondary bacterial infection. Infection by Brugia malayi (disorder) Infection due to Wuchereria malayi Malayan filariasis brugia filariasis due to brugia malayi disease_ontology DOID:14421 Brugia malayi filariasis true A filarial elephantiasis that involves parasitic infection by the nematode Brugia malayi, which inhabits the lymphatics. The symptoms include fever, lymphadenitis, lymphangitis, lymphedema, and secondary bacterial infection. url:http://en.wikipedia.org/wiki/Brugia_malayi url:http://www.dpd.cdc.gov/dpdx/HTML/Filariasis.htm Infection by Brugia malayi (disorder) SNOMEDCT_2005_07_31:76999009 Infection due to Wuchereria malayi MTHICD9_2006:125.1 Malayan filariasis ICD9CM_2006:125.1 A filariasis that is a zoonotic infection caused by the nematode of the genus Dipetalonema, which is transmitted accidentally to humans from porcupines, beavers and other mammals by mosquitoes. The adult worms live subcutaneously or in body cavities or in the eyes of humans. Dead worms cause hypersensitivity necrosis with eosinophils, followed by granulomatous reaction and fibrosis. ICD9CM:125.4 MESH:D004154 NCI:C34540 SNOMEDCT_US_2016_03_01:15629006 SNOMEDCT_US_2016_03_01:360423002 SNOMEDCT_US_2016_03_01:40229007 UMLS_CUI:C0012517 Infection by Dipetalonema (disorder) Infection by Dipetalonema perstans Infection by Dipetalonema perstans (disorder) Infection by Dipetalonema perstans (disorder) [Ambiguous] dipetalonema infectious disease disease_ontology DOID:14422 dipetalonemiasis A filariasis that is a zoonotic infection caused by the nematode of the genus Dipetalonema, which is transmitted accidentally to humans from porcupines, beavers and other mammals by mosquitoes. The adult worms live subcutaneously or in body cavities or in the eyes of humans. Dead worms cause hypersensitivity necrosis with eosinophils, followed by granulomatous reaction and fibrosis. url:http://books.google.com/books?id=OBZbR4vpg0YC&pg=PA158&lpg#v=onepage&q&f=false Infection by Dipetalonema (disorder) SNOMEDCT_2005_07_31:15629006 Infection by Dipetalonema perstans MTHICD9_2006:125.4 Infection by Dipetalonema perstans (disorder) SNOMEDCT_2005_07_31:360423002 Infection by Dipetalonema perstans (disorder) [Ambiguous] SNOMEDCT_2005_07_31:40229007 ICD10CM:G52.1 ICD9CM:352.1 MESH:D020435 SNOMEDCT_US_2016_03_01:43763009 UMLS_CUI:C0154731 Glossopharyngeal neuralgia Glossopharyngeal neuralgia (disorder) disease_ontology DOID:14423 glossopharyngeal neuralgia Glossopharyngeal neuralgia ICD9CM_2006:352.1 Glossopharyngeal neuralgia (disorder) SNOMEDCT_2005_07_31:43763009 metastasis to intra-abdominal lymph node secondary and unspecified malignant neoplasm of intra-abdominal lymph nodes secondary and unspecified malignant neoplasm of intra-abdominal lymph nodes (disorder) secondary and unspecified malignant neoplasm of intra-abdominal lymph nodes NOS (disorder) secondary malignant neoplasm of intra-abdominal lymph nodes (disorder) disease_ontology DOID:14425 secondary malignant neoplasm of intra-abdominal lymph node true metastasis to intra-abdominal lymph node SNOMEDCT_2005_07_31:154559003 secondary and unspecified malignant neoplasm of intra-abdominal lymph nodes ICD9CM_2006:196.2 secondary and unspecified malignant neoplasm of intra-abdominal lymph nodes (disorder) SNOMEDCT_2005_07_31:188405002 secondary and unspecified malignant neoplasm of intra-abdominal lymph nodes NOS (disorder) SNOMEDCT_2005_07_31:188411004 secondary malignant neoplasm of intra-abdominal lymph nodes (disorder) SNOMEDCT_2005_07_31:94347008 metastasis to intrathoracic lymph node secondary and unspecified malignant neoplasm of intrathoracic lymph nodes secondary and unspecified malignant neoplasm of intrathoracic lymph nodes (disorder) secondary and unspecified malignant neoplasm of intrathoracic lymph nodes NOS (disorder) secondary malignant neoplasm of intrathoracic lymph nodes (disorder) disease_ontology DOID:14426 secondary malignant neoplasm of intrathoracic lymph node true metastasis to intrathoracic lymph node SNOMEDCT_2005_07_31:154558006 secondary and unspecified malignant neoplasm of intrathoracic lymph nodes ICD9CM_2006:196.1 secondary and unspecified malignant neoplasm of intrathoracic lymph nodes (disorder) SNOMEDCT_2005_07_31:188393004 secondary and unspecified malignant neoplasm of intrathoracic lymph nodes NOS (disorder) SNOMEDCT_2005_07_31:188404003 secondary malignant neoplasm of intrathoracic lymph nodes (disorder) SNOMEDCT_2005_07_31:94351005 ICD9CM:251.4 SNOMEDCT_US_2016_03_01:11178005 SNOMEDCT_US_2016_03_01:190442008 UMLS_CUI:C0154191 Glucagon secretion abnormality disease_ontology DOID:14427 abnormality of glucagon secretion Glucagon secretion abnormality SNOMEDCT_2005_07_31:190442008 ICD9CM:331.9 SNOMEDCT_US_2016_03_01:154994001 SNOMEDCT_US_2016_03_01:154998003 SNOMEDCT_US_2016_03_01:192824002 SNOMEDCT_US_2016_03_01:267579001 SNOMEDCT_US_2016_03_01:267686002 SNOMEDCT_US_2016_03_01:267688001 SNOMEDCT_US_2016_03_01:418143002 SNOMEDCT_US_2016_03_01:52522001 SNOMEDCT_US_2016_03_01:73768007 UMLS_CUI:C0154671 Brain degeneration disease_ontology DOID:1443 cerebral degeneration Brain degeneration SNOMEDCT_2005_07_31:267686002 An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enterohemorrhagic Escherichia coli (EHEC), which cause hemorrhagic colitis or bloody diarrhea that can progress to hemolytic uremic syndrome. EHEC are considered to be moderately invasive and are characterized by the production of verotoxin or Shiga toxins. The infection results in copious bloody discharge. Verotoxigenic Escherichia coli gastrointestinal tract infection Verotoxigenic Escherichia coli gastrointestinal tract infection (disorder) intestinal infection due to enterohemorrhagic E. coli disease_ontology DOID:14433 enterohemorrhagic Escherichia coli infectious disease true An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enterohemorrhagic Escherichia coli (EHEC), which cause hemorrhagic colitis or bloody diarrhea that can progress to hemolytic uremic syndrome. EHEC are considered to be moderately invasive and are characterized by the production of verotoxin or Shiga toxins. The infection results in copious bloody discharge. url:http://www.textbookofbacteriology.net/e.coli_4.html Verotoxigenic Escherichia coli gastrointestinal tract infection SNOMEDCT_2005_07_31:186133003 Verotoxigenic Escherichia coli gastrointestinal tract infection (disorder) SNOMEDCT_2005_07_31:240354007 intestinal infection due to enterohemorrhagic E. coli ICD9CM_2006:008.04 An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enterotoxigenic Escherichia coli (ETEC), which are non-invasive and produce heat-labile enterotoxin (LT) or heat stable toxin (ST). The bacteria colonize the GI tract by means of a fimbrial adhesin. The symptoms include diarrhea without fever. Enterotoxigenic Escherichia coli gastrointestinal tract infection Enterotoxigenic Escherichia coli gastrointestinal tract infection (disorder) intestinal infection due to enterotoxigenic E. coli disease_ontology DOID:14434 enterotoxigenic Escherichia coli infectious disease true An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enterotoxigenic Escherichia coli (ETEC), which are non-invasive and produce heat-labile enterotoxin (LT) or heat stable toxin (ST). The bacteria colonize the GI tract by means of a fimbrial adhesin. The symptoms include diarrhea without fever. url:http://www.textbookofbacteriology.net/e.coli_4.html Enterotoxigenic Escherichia coli gastrointestinal tract infection SNOMEDCT_2005_07_31:186131001 Enterotoxigenic Escherichia coli gastrointestinal tract infection (disorder) SNOMEDCT_2005_07_31:240352006 intestinal infection due to enterotoxigenic E. coli ICD9CM_2006:008.02 A suppurative otitis media which is an inflammatory disease of the middle ear cleft characterized by the presence of a persisting perforation within the pars tensa of the tympanic membrane, intermittent profuse muco-purulent otorrhea and gradually progressive conductive hearing loss of more than 12 weeks duration. It is caused by episodes of upper respiratory infections. ICD10CM:H66.1 ICD10CM:H66.10 ICD9CM:382.1 SNOMEDCT_US_2016_03_01:87665008 UMLS_CUI:C0155440 disease_ontology DOID:14435 chronic tubotympanic suppurative otitis media A suppurative otitis media which is an inflammatory disease of the middle ear cleft characterized by the presence of a persisting perforation within the pars tensa of the tympanic membrane, intermittent profuse muco-purulent otorrhea and gradually progressive conductive hearing loss of more than 12 weeks duration. It is caused by episodes of upper respiratory infections. url:http://books.google.com/books?id=Dvl0V7DzoSMC&pg=PA101&lpg#v=onepage&q=&f=false An urticaria induced by sweating. ICD10CM:L50.5 ICD9CM:708.5 SNOMEDCT_US_2016_03_01:73098005 UMLS_CUI:C0152230 disease_ontology DOID:14443 cholinergic urticaria An urticaria induced by sweating. url:http://en.wikipedia.org/wiki/Cholinergic_urticaria url:www.dermnetnz.org/reactions/urticaria.html ICD10CM:H16.33 ICD9CM:370.54 SNOMEDCT_US_2016_03_01:194143001 SNOMEDCT_US_2016_03_01:27886001 SNOMEDCT_US_2016_03_01:417290008 UMLS_CUI:C0155090 Sclerokeratitis disease_ontology DOID:14444 sclerosing keratitis Sclerokeratitis SNOMEDCT_2005_07_31:194143001 ICD10CM:H40.22 ICD9CM:365.23 SNOMEDCT_US_2016_03_01:15417005 SNOMEDCT_US_2016_03_01:314542007 SNOMEDCT_US_2016_03_01:33647009 UMLS_CUI:C0154947 Anatomical narrow angle glaucoma chronic angle-closure glaucoma chronic narrow angle glaucoma disease_ontology DOID:14445 chronic closed-angle glaucoma Anatomical narrow angle glaucoma MTH:NOCODE chronic angle-closure glaucoma ICD9CM_2006:365.23 chronic narrow angle glaucoma SNOMEDCT_2005_07_31:33647009 A hypogonadism that is characterized by a progressive loss of germ cells on the developing gonads of an embryo. ICD9CM:758.6 MESH:D006059 NCI:C61420 SNOMEDCT_US_2016_03_01:157020008 SNOMEDCT_US_2016_03_01:205681004 SNOMEDCT_US_2016_03_01:205692003 SNOMEDCT_US_2016_03_01:205695001 SNOMEDCT_US_2016_03_01:268356004 SNOMEDCT_US_2016_03_01:38804009 UMLS_CUI:C0018051 Gonadal dysgenesis syndrome disease_ontology DOID:14447 gonadal dysgenesis A hypogonadism that is characterized by a progressive loss of germ cells on the developing gonads of an embryo. url:http://en.wikipedia.org/wiki/Gonadal_dysgenesis Gonadal dysgenesis syndrome SNOMEDCT_2005_07_31:38804009 A gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo. MESH:D006061 NCI:C120198 OMIM:154230 OMIM:233420 OMIM:300018 OMIM:400044 OMIM:607080 OMIM:612965 OMIM:613080 OMIM:613762 OMIM:614279 OMIM:616067 UMLS_CUI:C0018054 46,XY SEX REVERSAL Pure gonadal dysgenesis 46,XY Swyer syndrome disease_ontology DOID:14448 The term 46,XY DSD has replaced the following terms Male pseudohermaphrodite, Undervirilization of an XY male, Undermasculinization of an XY male, Mixed gonadal dysgenesis, Partial gonadal dysgenesis. OMIM mapping confirmed by DO. [SN]. OMIM mapping confirmed by DO. [LS]. 46 XY gonadal dysgenesis A gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo. url:http://en.wikipedia.org/wiki/XY_gonadal_dysgenesis url:https://ghr.nlm.nih.gov/condition/swyer-syndrome#synonyms Pure gonadal dysgenesis 46,XY SNOMEDCT_2005_07_31:95218005 MESH:D006060 SNOMEDCT_US_2016_03_01:205682006 SNOMEDCT_US_2016_03_01:83579008 UMLS_CUI:C0018055 disease_ontology DOID:14449 mixed gonadal dysgenesis A gonadal dysgenesis that is characterized by the lack of functional ovaries to induce puberty in an otherwise 46,XX female. MESH:D023961 NCI:C120197 OMIM:233300 OMIM:278850 OMIM:300833 OMIM:400045 OMIM:611812 OMIM:614324 ORDO:243 UMLS_CUI:C0949595 disease_ontology DOID:14450 OMIM mapping confirmed by DO. [LS]. 46 XX gonadal dysgenesis A gonadal dysgenesis that is characterized by the lack of functional ovaries to induce puberty in an otherwise 46,XX female. url:http://en.wikipedia.org/wiki/XX_gonadal_dysgenesis url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=243 ICD10CM:G72.3 MESH:D020513 NCI:C123429 OMIM:170500 SNOMEDCT_US_2016_03_01:15973007 SNOMEDCT_US_2016_03_01:278513006 SNOMEDCT_US_2016_03_01:304737009 UMLS_CUI:C0238357 familial hyperkalemic periodic paralysis (disorder) familial hyperkalemic periodic paralysis (disorder) [Ambiguous] hyperkalemic periodic paralysis (disorder) disease_ontology DOID:14451 OMIM mapping confirmed by DO. [SN]. hyperkalemic periodic paralysis familial hyperkalemic periodic paralysis (disorder) SNOMEDCT_2005_07_31:304737009 familial hyperkalemic periodic paralysis (disorder) [Ambiguous] SNOMEDCT_2005_07_31:15973007 hyperkalemic periodic paralysis (disorder) SNOMEDCT_2005_07_31:278513006 ICD10CM:G72.3 MESH:D020514 NCI:C84775 OMIM:170400 OMIM:613345 SNOMEDCT_US_2016_03_01:193241004 SNOMEDCT_US_2016_03_01:240093008 SNOMEDCT_US_2016_03_01:82732003 UMLS_CUI:C0238358 Hypokalemic familial periodic paralysis Hypokalemic periodic paralysis (disorder) Periodic paralysis I familial hypokalemic periodic paralysis (disorder) familial periodic paralysis (& [hypokalaemic]) periodic hypokalemic paralysis disease_ontology DOID:14452 OMIM mapping confirmed by DO. [SN]. hypokalemic periodic paralysis Hypokalemic familial periodic paralysis MTHICD9_2006:359.3 Hypokalemic periodic paralysis (disorder) SNOMEDCT_2005_07_31:240093008 Periodic paralysis I SNOMEDCT_2005_07_31:54696002 familial hypokalemic periodic paralysis (disorder) SNOMEDCT_2005_07_31:82732003 familial periodic paralysis (& [hypokalaemic]) SNOMEDCT_2005_07_31:193241004 periodic hypokalemic paralysis CSP2005:1849-3266 An extrinsic allergic alveolitis which is induced by the inhalation of spores (Aspergillus sp and thermophilic actinomycetes) in dust from moldy hay or straw. It is characterized by sudden onset, fever, cough, expectoration, and breathlessness. ICD10CM:J67.0 ICD9CM:495.0 MESH:D005203 NCI:C34605 SNOMEDCT_US_2016_03_01:155581001 SNOMEDCT_US_2016_03_01:18690003 SNOMEDCT_US_2016_03_01:266399001 UMLS_CUI:C0015634 Farmers lung farmer lung disease_ontology DOID:14453 farmer's lung An extrinsic allergic alveolitis which is induced by the inhalation of spores (Aspergillus sp and thermophilic actinomycetes) in dust from moldy hay or straw. It is characterized by sudden onset, fever, cough, expectoration, and breathlessness. url:http://www.merck.com/media/mmpe/pdf/Table_055-5.pdf url:http://www.merriam-webster.com/dictionary/farmer%27s%20lung Farmers lung SNOMEDCT_2005_07_31:266399001 A brucellosis that involves an infection caused by Brucella melitensis [NCBITaxon:29459] in cattle, goats, sheep and humans. The disease has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom limb pain and has_symptom back pain. ICD10CM:A23.0 ICD9CM:023.0 SNOMEDCT_US_2016_03_01:186305007 SNOMEDCT_US_2016_03_01:30789005 SNOMEDCT_US_2016_03_01:427999003 UMLS_CUI:C0302362 disease_ontology DOID:14456 Brucella melitensis brucellosis A brucellosis that involves an infection caused by Brucella melitensis [NCBITaxon:29459] in cattle, goats, sheep and humans. The disease has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom limb pain and has_symptom back pain. url:http://www.bmj.com/cgi/reprint/1/5644/612.pdf A brucellosis that involves an infection caused by Brucella abortus [NCBITaxon:235] in cattle and humans. The disease has_symptom fever, has_symptom chills, has_symptom sweats, has_symptom weight loss, has_symptom malaise, has_symptom headaches, has_symptom myalgia, and has_symptom arthralgia. ICD10CM:A23.1 ICD9CM:023.1 MESH:D002007 SNOMEDCT_US_2016_03_01:186306008 SNOMEDCT_US_2016_03_01:427795000 SNOMEDCT_US_2016_03_01:9060000 UMLS_CUI:C0302363 disease_ontology DOID:14457 Brucella abortus brucellosis A brucellosis that involves an infection caused by Brucella abortus [NCBITaxon:235] in cattle and humans. The disease has_symptom fever, has_symptom chills, has_symptom sweats, has_symptom weight loss, has_symptom malaise, has_symptom headaches, has_symptom myalgia, and has_symptom arthralgia. url:http://www.cdc.gov/ncidod/dbmd/diseaseinfo/Brucellosis_g.htm url:http://www.ncbi.nlm.nih.gov/sites/entrez/10790142 NCI:C6245 SNOMEDCT_US_2016_03_01:121951000119101 UMLS_CUI:C1335128 Angioma of the orbit disease_ontology DOID:14459 hemangioma of orbit Angioma of the orbit NCI2004_11_17:C6245 NCI:C4546 SNOMEDCT_US_2016_03_01:254998002 UMLS_CUI:C0346352 Cavernous Angioma of orbit disease_ontology DOID:14463 cavernous hemangioma of orbit Cavernous Angioma of orbit NCI2004_11_17:C4546 A nervous system disease that is characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness and is associated with administration of antipsychotic and other central dopaminergic blockers. ICD10CM:G21.0 ICD9CM:333.92 MESH:D009459 NCI:C94829 ORDO:94093 SNOMEDCT_US_2016_03_01:15244003 SNOMEDCT_US_2016_03_01:192826000 SNOMEDCT_US_2016_03_01:68977009 UMLS_CUI:C0027849 disease_ontology DOID:14464 neuroleptic malignant syndrome A nervous system disease that is characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness and is associated with administration of antipsychotic and other central dopaminergic blockers. url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=12561 disease_ontology DOID:14467 drug-induced persisting amnestic disease true A viral infectious disease that results_in infection located_in lung, has_material_basis_in Sin Nombre virus, transmitted_by deer mouse (Myodes glareolus), has_material_basis_in Black Creek Canal virus, transmitted_by cotton rat (Sigmodon hispidus), has_material_basis_in Bayou virus, transmitted_by marsh rice rat (Oryzomys palustris), has_material_basis_in Laguna Negra virus, transmitted_by small vesper mouse (Calomys laucha), or has_material_basis_in Andes virus, transmitted_by rice rat (Oligoryzomys longicaudatus). The infection has_symptom fever, has_symptom muscle pain, has_symptom headache, has_symptom cough, has_symptom vomiting, has_symptom chills which rapidly progress to bilateral interstitial pulmonary infiltrates occurrence, pulmonary edema and hypoxia often resulting in death from shock or cardiac complications. MESH:D018804 NCI:C84747 SNOMEDCT_US_2016_03_01:120639003 UMLS_CUI:C0243025 disease_ontology DOID:14472 hantavirus pulmonary syndrome A viral infectious disease that results_in infection located_in lung, has_material_basis_in Sin Nombre virus, transmitted_by deer mouse (Myodes glareolus), has_material_basis_in Black Creek Canal virus, transmitted_by cotton rat (Sigmodon hispidus), has_material_basis_in Bayou virus, transmitted_by marsh rice rat (Oryzomys palustris), has_material_basis_in Laguna Negra virus, transmitted_by small vesper mouse (Calomys laucha), or has_material_basis_in Andes virus, transmitted_by rice rat (Oligoryzomys longicaudatus). The infection has_symptom fever, has_symptom muscle pain, has_symptom headache, has_symptom cough, has_symptom vomiting, has_symptom chills which rapidly progress to bilateral interstitial pulmonary infiltrates occurrence, pulmonary edema and hypoxia often resulting in death from shock or cardiac complications. url:http://books.google.com/books?id=VS5bqBQ9RWoC&pg=PR65&lpg=PR65&dq#v=onepage&q&f=false url:http://www.cdc.gov/ncidod/diseases/hanta/hps/noframes/generalinfoindex.htm url:http://www.ncbi.nlm.nih.gov/sites/entrez/10742726 url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=hantavirus%20pulmonary%20syndrome An adenovirus infectious disease described as the infection of the lungs by adenoviruses (1,2, 3 and 7) especially in infants and children. In mild form of infection, findings of interstitial inflammatory cell infiltration may predominate, and nuclear inclusion bodies, most prominent in alveolar lining cells, may be identified in infected cells. Pneumonia due to adenovirus disease_ontology DOID:14473 adenovirus pneumonia true An adenovirus infectious disease described as the infection of the lungs by adenoviruses (1,2, 3 and 7) especially in infants and children. In mild form of infection, findings of interstitial inflammatory cell infiltration may predominate, and nuclear inclusion bodies, most prominent in alveolar lining cells, may be identified in infected cells. url:http://en.wikipedia.org/wiki/Adenovirus_infection url:http://virology-online.com/viruses/Adenoviruses3.htm url:http://www.ajronline.org/cgi/reprint/186/5/1288.pdf Pneumonia due to adenovirus ICD9CM_2006:480.0 A respiratory syncytial virus infectious disease that results_in inflammation located_in lung, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The disease is characterized by occasional multinucleated syncytial giant cells, hyperplasia of alveolar epithelial cells, epithelial necrosis of bronchioles and bronchi, papillary epithelial hyperplasia, and an inflammatory infiltrate composed of lymphocytes and macrophages in the peribronchial space and interstitium. Pneumonia due to respiratory syncytial virus (disorder) disease_ontology DOID:14474 respiratory syncytial virus pneumonia true A respiratory syncytial virus infectious disease that results_in inflammation located_in lung, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The disease is characterized by occasional multinucleated syncytial giant cells, hyperplasia of alveolar epithelial cells, epithelial necrosis of bronchioles and bronchi, papillary epithelial hyperplasia, and an inflammatory infiltrate composed of lymphocytes and macrophages in the peribronchial space and interstitium. url:http://books.google.com/books?id=12k1sTIyp1kC&pg=PA117&lpg#v=onepage&q=&f=false url:http://www.cdc.gov/RSV/ url:http://www.merck.com/mmhe/sec23/ch273/ch273i.htm Pneumonia due to respiratory syncytial virus (disorder) SNOMEDCT_2005_07_31:195881003 A viral infectious disease that results_in inflammation located_in lung, has_material_basis_in Human parainfluenza virus 3, which is transmitted_by contact with the respiratory secretions of an infected person. The infection leads to the formation of multinucleated giant cells derived from the respiratory epithelium. The infection has_symptom shortness of breath, has_symptom cough, and has_symptom fever. Parainfluenza virus pneumonia (disorder) disease_ontology DOID:14475 parainfluenzal pneumonia true A viral infectious disease that results_in inflammation located_in lung, has_material_basis_in Human parainfluenza virus 3, which is transmitted_by contact with the respiratory secretions of an infected person. The infection leads to the formation of multinucleated giant cells derived from the respiratory epithelium. The infection has_symptom shortness of breath, has_symptom cough, and has_symptom fever. url:http://books.google.com/books?id=nWtVT4n0yM8C&pg=RA1-PA452&lpg#v=onepage&q=&f=false url:http://www.springerlink.com/content/d3540088547u2n43/fulltext.pdf Parainfluenza virus pneumonia (disorder) SNOMEDCT_2005_07_31:64917006 A severe acute respiratory syndrome that results_in infection located_in lungs, has_material_basis_in SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom myalgia, has_symptom lethargy, has_symptom cough, has_symptom sore throat, has_symptom shortness of breath, and other breathing difficulties which may lead to death as a result of respiratory failure. SARS-associated coronavirus pneumonia disease_ontology DOID:14476 SARS coronavirus pneumonia true A severe acute respiratory syndrome that results_in infection located_in lungs, has_material_basis_in SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom myalgia, has_symptom lethargy, has_symptom cough, has_symptom sore throat, has_symptom shortness of breath, and other breathing difficulties which may lead to death as a result of respiratory failure. url:http://en.wikipedia.org/wiki/SARS url:http://www.doh.gov.ph/sars/may16.pdf A Cytomegalovirus infectious disease that results_in inflammation, located_in lung, has_material_basis_in Human herpesvirus 5, a member of a group of herpes-type viruses especially in people who have a suppressed immune system and has_symptom cough, has_symptom fatigue, has_symptom shortness of breath, and has_symptom hypoxemia. Cytomegalovirus infection can be demonstrated microscopically by the detection of intranuclear inclusion bodies. Cytomegaloviral pneumonia (disorder) disease_ontology DOID:14477 Cytomegalovirus pneumonia true A Cytomegalovirus infectious disease that results_in inflammation, located_in lung, has_material_basis_in Human herpesvirus 5, a member of a group of herpes-type viruses especially in people who have a suppressed immune system and has_symptom cough, has_symptom fatigue, has_symptom shortness of breath, and has_symptom hypoxemia. Cytomegalovirus infection can be demonstrated microscopically by the detection of intranuclear inclusion bodies. url:http://www.nlm.nih.gov/medlineplus/ency/article/000664.htm Cytomegaloviral pneumonia (disorder) SNOMEDCT_2005_07_31:7678002 ICD10CM:O26.4 ICD10CM:O26.40 MESH:D006559 NCI:C85003 SNOMEDCT_US_2016_03_01:156129002 SNOMEDCT_US_2016_03_01:199126002 SNOMEDCT_US_2016_03_01:199131000 SNOMEDCT_US_2016_03_01:270959002 SNOMEDCT_US_2016_03_01:86081009 UMLS_CUI:C0019343 Gestational herpes Herpes gestationis Herpes gestationis (disorder) Herpes gestationis NOS (disorder) Herpes gestationis unspecified (disorder) disease_ontology DOID:14482 herpes gestationis Gestational herpes SNOMEDCT_2005_07_31:156129002 Gestational herpes SNOMEDCT_2005_07_31:270959002 Herpes gestationis MTHICD9_2006:646.8 Herpes gestationis (disorder) SNOMEDCT_2005_07_31:86081009 Herpes gestationis NOS (disorder) SNOMEDCT_2005_07_31:199131000 Herpes gestationis unspecified (disorder) SNOMEDCT_2005_07_31:199126002 MESH:D020150 SNOMEDCT_US_2016_03_01:25113000 UMLS_CUI:C0264746 Chorea gravidarum (disorder) disease_ontology DOID:14483 chorea gravidarum Chorea gravidarum (disorder) SNOMEDCT_2005_07_31:25113000 A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Sporothrix schenckii in animals and humans and results_in_formation_of red papule at the site of inoculation. ICD10CM:B42 ICD10CM:B42.9 ICD9CM:117.1 MESH:D013174 SNOMEDCT_US_2016_03_01:154408001 SNOMEDCT_US_2016_03_01:187078008 SNOMEDCT_US_2016_03_01:187488001 SNOMEDCT_US_2016_03_01:266218008 SNOMEDCT_US_2016_03_01:42094007 UMLS_CUI:C0038034 disease_ontology DOID:14484 sporotrichosis A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Sporothrix schenckii in animals and humans and results_in_formation_of red papule at the site of inoculation. url:http://www.nyhealth.gov/diseases/communicable/sporotrichosis/fact_sheet.htm NCI:C6175 UMLS_CUI:C1336876 lymphoma of ureter ureteral Lymphoma disease_ontology DOID:14489 ureteral lymphoma ureteral Lymphoma NCI2004_11_17:C6175 metastatic neoplasm to the Ureter secondary malignant neoplasm of ureter (disorder) disease_ontology DOID:14490 metastasis to the ureter true metastatic neoplasm to the Ureter NCI2004_11_17:C7544 secondary malignant neoplasm of ureter (disorder) SNOMEDCT_2005_07_31:94659001 NCI:C8716 NCI:C9356 UMLS_CUI:C0854921 regional Ureteric carcinoma regional malignant ureteral tumor disease_ontology DOID:14491 regional ureteric cancer regional Ureteric carcinoma NCI2004_11_17:C9356 regional malignant ureteral tumor NCI2004_11_17:C8716 Ureter metastatic malignant neoplasm disease_ontology DOID:14492 metastatic neoplasm of ureter true Ureter metastatic malignant neoplasm NCI2004_11_17:C27818 ICD10CM:K91.1 MESH:D004377 NCI:C2994 SNOMEDCT_US_2016_03_01:155785007 SNOMEDCT_US_2016_03_01:197128007 SNOMEDCT_US_2016_03_01:266458008 SNOMEDCT_US_2016_03_01:266527005 SNOMEDCT_US_2016_03_01:80193009 UMLS_CUI:C0013288 Dumping (jejunal) syndrome Jejunal syndrome disease_ontology DOID:14495 dumping syndrome Dumping (jejunal) syndrome SNOMEDCT_2005_07_31:197128007 Jejunal syndrome MTHICD9_2006:564.2 ICD10CM:E75.5 MESH:D015223 NCI:C61271 SNOMEDCT_US_2016_03_01:190795007 SNOMEDCT_US_2016_03_01:190797004 SNOMEDCT_US_2016_03_01:238074007 SNOMEDCT_US_2016_03_01:37896002 SNOMEDCT_US_2016_03_01:82500001 UMLS_CUI:C0043208 Acid esterase deficiency Acid lipase deficiency Wolman xanthomatosis Wolman's disease Wolman's or triglyceride storage type III disease Xanthomatosis, familial disease_ontology DOID:14497 Wolman disease Acid esterase deficiency SNOMEDCT_2005_07_31:190795007 Acid lipase deficiency SNOMEDCT_2005_07_31:37896002 Wolman xanthomatosis CSP2005:1849-5821 Wolman's disease SNOMEDCT_2005_07_31:82500001 Wolman's or triglyceride storage type III disease MTHICD9_2006:272.7 Xanthomatosis, familial SNOMEDCT_2005_07_31:238074007 MESH:D008065 NCI:C84829 OMIM:247100 SNOMEDCT_US_2016_03_01:238950006 SNOMEDCT_US_2016_03_01:38692000 UMLS_CUI:C0023795 Lipid proteinosis (disorder) Lipoid proteinosis URBACH-WIETHE DISEASE disease_ontology DOID:14498 OMIM mapping confirmed by DO. [SN]. lipoid proteinosis Lipid proteinosis (disorder) SNOMEDCT_2005_07_31:38692000 Lipoid proteinosis SNOMEDCT_2005_07_31:238950006 ICD10CM:E75.21 MESH:D000795 NCI:C27528 NCI:C84701 OMIM:301500 SNOMEDCT_US_2016_03_01:124464003 SNOMEDCT_US_2016_03_01:16652001 SNOMEDCT_US_2016_03_01:190792005 SNOMEDCT_US_2016_03_01:190796008 SNOMEDCT_US_2016_03_01:236536000 UMLS_CUI:C0002986 Alpha-galactosidase A deficiency Angiokeratoma Corporis Diffusum Fabry's disease alpha galactosidase deficiency deficiency of melibiase disease_ontology DOID:14499 OMIM mapping confirmed by DO. [SN]. Fabry disease Alpha-galactosidase A deficiency SNOMEDCT_2005_07_31:190796008 Alpha-galactosidase A deficiency SNOMEDCT_2005_07_31:236536000 Angiokeratoma Corporis Diffusum NCI2004_11_17:C27528 Fabry's disease MTHICD9_2006:272.7 alpha galactosidase deficiency CSP2005:1849-9034 deficiency of melibiase SNOMEDCT_2005_07_31:124464003 disease_ontology DOID:145 papilledema associated with retinal disorder true ICD10CM:E77.1 MESH:D005645 NCI:C61274 OMIM:230000 SNOMEDCT_US_2016_03_01:190937009 SNOMEDCT_US_2016_03_01:64716005 UMLS_CUI:C0016788 A-fucosidase deficiency alpha fucosidase deficiency disease_ontology DOID:14500 OMIM mapping confirmed by DO. [SN]. fucosidosis A-fucosidase deficiency SNOMEDCT_2005_07_31:190937009 alpha fucosidase deficiency CSP2005:1849-8519 MESH:D016111 NCI:C85070 OMIM:270200 SNOMEDCT_US_2016_03_01:111303009 SNOMEDCT_US_2016_03_01:205549003 UMLS_CUI:C0037231 Sjogren Larsson syndrome Sjogren-Larsson syndrome (disorder) Sjogren-Larsson's syndrome disease_ontology DOID:14501 OMIM mapping confirmed by DO. [LS]. Sjogren-Larsson syndrome Sjogren Larsson syndrome CSP2005:0726-9470 Sjogren Larsson syndrome CSP2005:1840-2225 Sjogren Larsson syndrome CSP2005:2057-3666 Sjogren-Larsson syndrome (disorder) SNOMEDCT_2005_07_31:111303009 Sjogren-Larsson's syndrome SNOMEDCT_2005_07_31:205549003 MESH:D015217 SNOMEDCT_US_2016_03_01:57218003 UMLS_CUI:C0008384 disease_ontology DOID:14502 cholesterol ester storage disease ICD10CM:E75.4 MESH:D009472 NCI:C61257 OMIM:PS256730 ORDO:216 ORDO:79262 SNOMEDCT_US_2016_03_01:42012007 UMLS_CUI:C0027877 hereditary ceroid lipofuscinosis disease_ontology DOID:14503 Xref MGI. OMIM mapping submitted by NeuroDevNet. [LS]. neuronal ceroid lipofuscinosis hereditary ceroid lipofuscinosis CSP2005:1849-6833 DOID:0050442 DOID:0050443 DOID:14770 ICD10CM:E75.24 ICD10CM:E75.242 ICD10CM:E75.249 MESH:D009542 MESH:D052556 NCI:C61269 NCI:C85214 OMIM:257200 OMIM:257220 OMIM:607616 OMIM:607625 SNOMEDCT_US_2016_03_01:58459009 SNOMEDCT_US_2016_03_01:66751000 UMLS_CUI:C0028064 UMLS_CUI:C0220756 Niemann-Pick disease type A Niemann-Pick disease type B Niemann-Pick disease type C Niemann-Pick disease with cholesterol esterification block Niemann-Pick disease, subacute juvenile form Sphingomyelinase Deficiency Disease lipoid histiocytosis (classical phosphatide) sphingomyelin lipidosis Type A Niemann-Pick Disease disease_ontology DOID:14504 OMIM mapping confirmed by DO. [SN]. Niemann-Pick disease lipoid histiocytosis (classical phosphatide) CSP2005:1849-9151 ICD10CM:H18.46 ICD9CM:371.48 SNOMEDCT_US_2016_03_01:89182000 UMLS_CUI:C0155123 peripheral degenerations of cornea disease_ontology DOID:14507 peripheral degeneration of cornea peripheral degenerations of cornea ICD9CM_2006:371.48 A candidiasis that results_in fungal infection of the outer-most layer located_in nail, has_material_basis_in Candida species. The infection causes painful, red, swollen area around the nail, often at the cuticle or at the site of a hangnail or other injury. DOID:14511 ICD10CM:B37.2 ICD9CM:112.3 SNOMEDCT_US_2016_03_01:187014000 SNOMEDCT_US_2016_03_01:187018002 UMLS_CUI:C0006842 candidiasis of skin candidiasis of skin and nails disease_ontology DOID:14512 candidal paronychia A candidiasis that results_in fungal infection of the outer-most layer located_in nail, has_material_basis_in Candida species. The infection causes painful, red, swollen area around the nail, often at the cuticle or at the site of a hangnail or other injury. url:http://emedicine.medscape.com/article/1090632-overview url:http://www.doctorfungus.org/mycoses/human/Candida/Cutaneous_general.htm A chromosomal deletion syndrome that is a nephroblastoma that results_in a rare genetic syndrome in which affected children are predisposed to develop Wilms tumor, Aniridia (absence of the colored part of the eye, the iris), genitourinary anomalies, and mental retardation. The condition results from a deletion on chromosome 11 resulting in the loss of several genes. As such, it is one of the best studied examples of a condition caused by loss of neighbouring (contiguous) genes. MESH:D017624 NCI:C3718 OMIM:194072 SNOMEDCT_US_2016_03_01:4135001 UMLS_CUI:C0206115 11p partial monosomy syndrome (disorder) Wilms tumor-Aniridia-Genitourinary Anomalies-Mental Retardation syndrome chromosome 11p13 deletion syndrome disease_ontology DOID:14515 OMIM mapping confirmed by DO. [LS]. WAGR syndrome A chromosomal deletion syndrome that is a nephroblastoma that results_in a rare genetic syndrome in which affected children are predisposed to develop Wilms tumor, Aniridia (absence of the colored part of the eye, the iris), genitourinary anomalies, and mental retardation. The condition results from a deletion on chromosome 11 resulting in the loss of several genes. As such, it is one of the best studied examples of a condition caused by loss of neighbouring (contiguous) genes. url:http://en.wikipedia.org/wiki/WAGR_syndrome 11p partial monosomy syndrome (disorder) SNOMEDCT_2005_07_31:4135001 Wilms tumor-Aniridia-Genitourinary Anomalies-Mental Retardation syndrome NCI2004_11_17:C3718 disease_ontology DOID:14518 Idiopathic cysts of iris and ciliary body true An adenovirus infectious disease that involves damage of the cells in the lining of the stomach and intestines caused by adenoviruses (types 40 and 41). The symptoms include watery diarrhea, vomiting and fever. Enteritis due to adenovirus adenoviral enteritis disease_ontology DOID:14520 adenovirus gastroenteritis true An adenovirus infectious disease that involves damage of the cells in the lining of the stomach and intestines caused by adenoviruses (types 40 and 41). The symptoms include watery diarrhea, vomiting and fever. url:http://digestive.niddk.nih.gov/ddiseases/pubs/viralgastroenteritis/ url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2544764/pdf/bmj00269-0005b.pdf Enteritis due to adenovirus ICD9CM_2006:008.62 cutaneous breast cancer disease_ontology DOID:14521 cutaneous breast cancer true cutaneous breast cancer NCI2004_11_17:C28311 ICD10CM:H34.21 ICD10CM:H34.219 ICD9CM:362.33 NCI:C35192 SNOMEDCT_US_2016_03_01:193376004 SNOMEDCT_US_2016_03_01:776009 UMLS_CUI:C0154839 Partial Retinal Arterial Occlusion Partial arterial retinal occlusion (disorder) Partial retinal arterial occlusion Retinal partial arterial occlusion NOS (disorder) disease_ontology DOID:14522 partial arterial retinal occlusion Partial Retinal Arterial Occlusion NCI2004_11_17:C35192 Partial arterial retinal occlusion (disorder) SNOMEDCT_2005_07_31:776009 Partial retinal arterial occlusion ICD9CM_2006:362.33 Retinal partial arterial occlusion NOS (disorder) SNOMEDCT_2005_07_31:193376004 ICD10CM:H57.01 ICD9CM:379.45 SNOMEDCT_US_2016_03_01:21011008 UMLS_CUI:C0155375 Argyll Robertson phenomenon or pupil, nonsyphilitic Argyll Robertson pupil, atypical Atypical Argyll-Robertson pupil disease_ontology DOID:14523 Argyll Robertson pupil Argyll Robertson pupil, atypical ICD9CM_2006:379.45 Atypical Argyll-Robertson pupil SNOMEDCT_2005_07_31:21011008 ICD9CM:331.2 SNOMEDCT_US_2016_03_01:154995000 SNOMEDCT_US_2016_03_01:154996004 SNOMEDCT_US_2016_03_01:192804001 SNOMEDCT_US_2016_03_01:267687006 SNOMEDCT_US_2016_03_01:45864009 UMLS_CUI:C0154669 Senile brain degen. disease_ontology DOID:14524 senile degeneration of brain Senile brain degen. SNOMEDCT_2005_07_31:267687006 A syndrome characterized by acute brain damage and liver function problems. It has been associated with aspirin consumption by children with viral illness, although it also occurs in the absence of aspirin use. ICD10CM:G93.7 ICD9CM:331.81 MESH:D012202 NCI:C34983 SNOMEDCT_US_2016_03_01:154998003 SNOMEDCT_US_2016_03_01:267688001 SNOMEDCT_US_2016_03_01:74351001 UMLS_CUI:C0035400 Reye's syndrome disease_ontology DOID:14525 Reye syndrome A syndrome characterized by acute brain damage and liver function problems. It has been associated with aspirin consumption by children with viral illness, although it also occurs in the absence of aspirin use. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=2680560 url:https://en.wikipedia.org/wiki/Reye_syndrome Reye's syndrome SNOMEDCT_2005_07_31:267688001 ICD10CM:K03.3 ICD9CM:521.42 SNOMEDCT_US_2016_03_01:41918006 SNOMEDCT_US_2016_03_01:43079004 UMLS_CUI:C0266878 disease_ontology DOID:14529 external pathological resorption ICD10CM:K14.4 ICD9CM:529.4 SNOMEDCT_US_2016_03_01:196585008 SNOMEDCT_US_2016_03_01:196586009 SNOMEDCT_US_2016_03_01:196588005 SNOMEDCT_US_2016_03_01:196589002 SNOMEDCT_US_2016_03_01:50644009 SNOMEDCT_US_2016_03_01:69279006 SNOMEDCT_US_2016_03_01:9491003 UMLS_CUI:C0155964 Atrophy of tongue papillae Glossitis, Hunter's Hunter's glossitis smooth atrophic tongue disease_ontology DOID:1453 atrophic glossitis Atrophy of tongue papillae SNOMEDCT_2005_07_31:196588005 Glossitis, Hunter's MTHICD9_2006:529.4 Hunter's glossitis SNOMEDCT_2005_07_31:50644009 Syringomyelia and syringobulbia (disorder) disease_ontology DOID:14530 syringomyelia and syringobulbia true Syringomyelia and syringobulbia (disorder) SNOMEDCT_2005_07_31:192894009 NCI:C5367 UMLS_CUI:C1334569 MPNST of Heart disease_ontology DOID:14534 malignant cardiac peripheral nerve sheath neoplasm MPNST of Heart NCI2004_11_17:C5367 NCI:C5371 UMLS_CUI:C1334566 malignant germ cell tumor of the Heart disease_ontology DOID:14535 malignant cardiac germ cell tumor malignant germ cell tumor of the Heart NCI2004_11_17:C5371 metastatic tumor to the Heart secondary malignant neoplasm of heart (disorder) disease_ontology DOID:14539 metastasis to heart true metastatic tumor to the Heart NCI2004_11_17:C4889 secondary malignant neoplasm of heart (disorder) SNOMEDCT_2005_07_31:94327000 disease_ontology DOID:14542 macular or paramacular focal retinitis and retinochoroiditis true A rete testis neoplasm that derives_from epithelial cells of glandular origin. NCI:C8955 UMLS_CUI:C0863024 adenocarcinoma of the rete testis disease_ontology adenocarcinoma of rete testis DOID:14544 rete testis adenocarcinoma A rete testis neoplasm that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma adenocarcinoma of the rete testis NCI2004_11_17:C8955 A male reproductive organ cancer that derives_from epithelial cells of glandular origin. NCI:C39906 UMLS_CUI:C1519233 disease_ontology DOID:14545 seminal vesicle adenocarcinoma A male reproductive organ cancer that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma ICD10CM:C31.3 ICD9CM:160.5 NCI:C3543 SNOMEDCT_US_2016_03_01:363428005 SNOMEDCT_US_2016_03_01:94067008 UMLS_CUI:C0153479 malignant tumor of Sphenoidal sinus malignant tumor of sphenoid sinus (disorder) disease_ontology DOID:14546 sphenoidal sinus cancer malignant tumor of Sphenoidal sinus NCI2004_11_17:C3543 malignant tumor of sphenoid sinus (disorder) SNOMEDCT_2005_07_31:363428005 NCI:C6066 UMLS_CUI:C1336039 Epidermoid carcinoma of the Sphenoidal sinus disease_ontology DOID:14547 sphenoid sinus squamous cell carcinoma Epidermoid carcinoma of the Sphenoidal sinus NCI2004_11_17:C6066 ICD9CM:365.03 SNOMEDCT_US_2016_03_01:193535007 SNOMEDCT_US_2016_03_01:302895007 UMLS_CUI:C0339572 Borderline glaucoma steroid responder Steroid responders borderline glaucoma disease_ontology DOID:14548 steroid-induced glaucoma - borderline Borderline glaucoma steroid responder SNOMEDCT_2005_07_31:193535007 Steroid responders borderline glaucoma ICD9CM_2006:365.03 Tympanosclerosis involving tympanic membrane, ear ossicles, and middle ear Tympanosclerosis of tympanic membrane, ossicles and middle ear (disorder) disease_ontology DOID:14549 Tympanosclerosis involving tympanic membrane, ear ossicles and middle ear true Tympanosclerosis involving tympanic membrane, ear ossicles, and middle ear ICD9CM_2006:385.03 Tympanosclerosis of tympanic membrane, ossicles and middle ear (disorder) SNOMEDCT_2005_07_31:89058008 An atrophic glossitis that is characterized as an inflammatory condition of the mucous membrane of the tongue, usually on the dorsal surface. ICD10CM:K14.1 ICD9CM:529.1 MESH:D005929 NCI:C84588 OMIM:137400 SNOMEDCT_US_2016_03_01:155667007 SNOMEDCT_US_2016_03_01:266496009 SNOMEDCT_US_2016_03_01:59032001 UMLS_CUI:C0017677 Glossitis areata exfoliativa Pityriasis linguae benign migratory glossitis disease_ontology DOID:1455 OMIM mapping confirmed by DO. [SN]. geographic tongue An atrophic glossitis that is characterized as an inflammatory condition of the mucous membrane of the tongue, usually on the dorsal surface. url:http://en.wikipedia.org/wiki/Geographic_tongue Glossitis areata exfoliativa MTHICD9_2006:529.1 Pityriasis linguae SNOMEDCT_2005_07_31:59032001 MESH:D012391 UMLS_CUI:C0035851 disease_ontology DOID:14550 root resorption ICD10CM:H47.14 ICD9CM:377.04 MESH:D009901 SNOMEDCT_US_2016_03_01:87764000 UMLS_CUI:C0152112 disease_ontology DOID:14555 Foster-Kennedy syndrome A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling. ICD10CM:I27.0 ICD9CM:416.0 NCI:C97119 OMIM:178600 OMIM:265400 OMIM:615342 OMIM:615343 OMIM:615344 ORDO:422 SNOMEDCT_US_2016_03_01:155328008 SNOMEDCT_US_2016_03_01:26174007 SNOMEDCT_US_2016_03_01:266293003 UMLS_CUI:C0152171 disease_ontology DOID:14557 Xref MGI. OMIM mapping confirmed by DO. [SN]. primary pulmonary hypertension A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling. url:http://en.wikipedia.org/wiki/Pulmonary_hypertension url:http://ghr.nlm.nih.gov/condition/pulmonary-arterial-hypertension Non-toxic multinodular goiter (disorder) Non-toxic multinodular goitre disease_ontology DOID:14558 nontoxic multinodular goiter true Non-toxic multinodular goiter (disorder) SNOMEDCT_2005_07_31:36241006 Non-toxic multinodular goitre SNOMEDCT_2005_07_31:154653006 ICD9CM:320.81 UMLS_CUI:C0375197 disease_ontology DOID:14559 anaerobic meningitis ICD10CM:K14.0 ICD9CM:529.0 MESH:D005928 NCI:C112199 SNOMEDCT_US_2016_03_01:155666003 SNOMEDCT_US_2016_03_01:196583001 SNOMEDCT_US_2016_03_01:45534005 UMLS_CUI:C0017675 disease_ontology DOID:1456 glossitis A disease that is characterized by abnormally rapid cell division. DOID:0000818 cell process disease neoplasm disease_ontology DOID:14566 disease of cellular proliferation A disease that is characterized by abnormally rapid cell division. url:http://en.wikipedia.org/w/index.php?title=Cell_proliferation ICD10CM:E89.0 ICD9CM:244.0 SNOMEDCT_US_2016_03_01:154662008 SNOMEDCT_US_2016_03_01:190275002 SNOMEDCT_US_2016_03_01:27059002 UMLS_CUI:C0154157 Post-surgical hypothyroidism Postoperative hypothyroidism (disorder) disease_ontology DOID:1458 postsurgical hypothyroidism Post-surgical hypothyroidism SNOMEDCT_2005_07_31:154662008 Postoperative hypothyroidism (disorder) SNOMEDCT_2005_07_31:27059002 A thyroid gland disease which involves an underproduction of thyroid hormone. DOID:11630 EFO:0004705 ICD10CM:E03.9 ICD9CM:244.9 MESH:D007037 NCI:C26800 SNOMEDCT_US_2016_03_01:154660000 SNOMEDCT_US_2016_03_01:190274003 SNOMEDCT_US_2016_03_01:190290003 SNOMEDCT_US_2016_03_01:237572004 SNOMEDCT_US_2016_03_01:267377003 SNOMEDCT_US_2016_03_01:267465007 SNOMEDCT_US_2016_03_01:40930008 UMLS_CUI:C0020676 Thyroid deficiency Thyroid insufficiency disease_ontology DOID:1459 hypothyroidism A thyroid gland disease which involves an underproduction of thyroid hormone. url:http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001393/ Thyroid deficiency SNOMEDCT_2005_07_31:190274003 Thyroid insufficiency SNOMEDCT_2005_07_31:190290003 ICD10CM:H46.0 ICD10CM:H47.1 ICD10CM:H47.10 ICD9CM:377.0 ICD9CM:377.00 ICD9CM:377.31 MESH:D010211 NCI:C3307 SNOMEDCT_US_2016_03_01:111526001 SNOMEDCT_US_2016_03_01:155187009 SNOMEDCT_US_2016_03_01:194038006 SNOMEDCT_US_2016_03_01:194041002 SNOMEDCT_US_2016_03_01:248487006 SNOMEDCT_US_2016_03_01:423341008 SNOMEDCT_US_2016_03_01:423488006 SNOMEDCT_US_2016_03_01:73221001 UMLS_CUI:C0030353 disease_ontology DOID:146 papilledema disease_ontology DOID:1460 atheroembolism of kidney A vascular disease that is characterized by blood vessel obstruction resulting from the release of cholesterol from the inside of blood vessels along the bloodstream. ICD10CM:I75 ICD9CM:445 MESH:D017700 SNOMEDCT_US_2016_03_01:10690002 UMLS_CUI:C0149649 atheroembolism cholesterol crystal embolism purple toe syndrome trash foot warfarin blue toe syndrome disease_ontology DOID:1461 cholesterol embolism A vascular disease that is characterized by blood vessel obstruction resulting from the release of cholesterol from the inside of blood vessels along the bloodstream. url:http://en.wikipedia.org/wiki/Cholesterol_embolism Salmonella septicemia (disorder) disease_ontology DOID:1465 Salmonella septicemia true Salmonella septicemia (disorder) SNOMEDCT_2005_07_31:49786009 ICD10CM:N41 ICD10CM:N41.9 ICD9CM:601 ICD9CM:601.9 MESH:D011472 NCI:C26866 SNOMEDCT_US_2016_03_01:155907007 SNOMEDCT_US_2016_03_01:155911001 SNOMEDCT_US_2016_03_01:197962006 SNOMEDCT_US_2016_03_01:197971002 SNOMEDCT_US_2016_03_01:266637008 SNOMEDCT_US_2016_03_01:9713002 UMLS_CUI:C0033581 disease_ontology DOID:14654 prostatitis DOID:9469 localized Salmonella infectious disease disease_ontology DOID:1466 Salmonella infectious disease true A dysostosis that results_in shortening of interphalangeal joints located_in hand or located_in foot along with mental deficiency. MESH:C538179 OMIM:101800 OMIM:614613 SNOMEDCT_US_2016_03_01:66758006 UMLS_CUI:C0220659 disease_ontology DOID:14669 OMIM mapping confirmed by DO. [SN]. acrodysostosis A dysostosis that results_in shortening of interphalangeal joints located_in hand or located_in foot along with mental deficiency. url:http://children.webmd.com/acrodysostosis url:http://en.wikipedia.org/wiki/Acrodysostosis url:http://www.nlm.nih.gov/medlineplus/ency/article/001248.htm url:http://www.umm.edu/ency/article/001248.htm A labyrinthitits in which bacterial toxins invade the inner ear. It is the most common complication of acute or chronic middle ear infections. ICD9CM:386.31 SNOMEDCT_US_2016_03_01:41674001 UMLS_CUI:C0155504 acute serous labyrinthitis serous labyrinthitis (disorder) disease_ontology DOID:1467 serous labyrinthitis A labyrinthitits in which bacterial toxins invade the inner ear. It is the most common complication of acute or chronic middle ear infections. url:http://books.google.com/books?id=QRgynJASsi8C&pg=PA221&lpg#v=onepage&q=&f=false serous labyrinthitis (disorder) SNOMEDCT_2005_07_31:41674001 An autosomal recessive disease that is characterized by the combination of hypertelorism, cleft lip and palate and microtia. MESH:C537632 OMIM:239800 UMLS_CUI:C0220742 Bixler Christian Gorlin syndrome Bixler syndrome Bixler-Christian-Gorlin syndrome HMC syndrome Hypertelorism-Microtia-Clefting Syndrome Hypertelorism-microtia-facial clefting syndrome disease_ontology DOID:14670 OMIM mapping confirmed by DO. [SN]. hypertelorism, microtia, facial clefting syndrome An autosomal recessive disease that is characterized by the combination of hypertelorism, cleft lip and palate and microtia. url:http://rarediseases.info.nih.gov/gard/897/bixler-christian-gorlin-syndrome/resources/1 url:http://www.ncbi.nlm.nih.gov/medgen?LinkName=pubmed_medgen_omim&from_uid=11152141 url:http://www.ncbi.nlm.nih.gov/pubmed/11152141 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2213 MESH:C562441 OMIM:243150 SNOMEDCT_US_2016_03_01:95472001 UMLS_CUI:C0220744 Multiple gastrointestinal atresias (disorder) disease_ontology DOID:14671 OMIM mapping confirmed by DO. [SN]. multiple intestinal atresia Multiple gastrointestinal atresias (disorder) SNOMEDCT_2005_07_31:95472001 disease_ontology DOID:14676 OMIM mapping confirmed by DO. [SN]. congenital contricting bands true A syndrome that is characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. ICD10CM:Q87.2 MESH:C536534 OMIM:192350 OMIM:276950 SNOMEDCT_US_2016_03_01:205830006 SNOMEDCT_US_2016_03_01:27742002 UMLS_CUI:C0220708 VACTERL/VATER association vater ASSOCIATION vater association (disorder) vater association [dup] (disorder) disease_ontology VATER syndrome DOID:14679 OMIM mapping confirmed by DO. [LS]. VACTERL association A syndrome that is characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. url:http://en.wikipedia.org/wiki/VACTERL_association url:http://ghr.nlm.nih.gov/condition/vacterl-association url:http://omim.org/entry/192350 url:http://www.cincinnatichildrens.org/health/v/vacterl/ url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=887 url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/486/viewAbstract vater association (disorder) SNOMEDCT_2005_07_31:27742002 vater association [dup] (disorder) SNOMEDCT_2005_07_31:205830006 An otitis interna which involves inflammation of the labyrinths. ICD10CM:H83.0 ICD10CM:H83.09 ICD9CM:386.3 ICD9CM:386.30 MESH:D007762 SNOMEDCT_US_2016_03_01:155239008 SNOMEDCT_US_2016_03_01:194363004 SNOMEDCT_US_2016_03_01:194367003 SNOMEDCT_US_2016_03_01:23919004 UMLS_CUI:C0022893 disease_ontology DOID:1468 labyrinthitis An otitis interna which involves inflammation of the labyrinths. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=LABYRINTHITIS VASCULITIS, HEREDITARY INFLAMMATORY, WITH PERSISTENT NODULES disease_ontology DOID:14680 hereditary inflammatory vasculitis true ICD10CM:Q87.1 MESH:D056730 NCI:C85068 OMIM:180860 SNOMEDCT_US_2016_03_01:15069006 UMLS_CUI:C0175693 Silver Russell Dwarfism disease_ontology DOID:14681 OMIM mapping confirmed by DO. [LS]. Silver-Russell syndrome MESH:C536036 OMIM:155050 UMLS_CUI:C0220692 binder type maxillonasal dysplasia disease_ontology DOID:14683 OMIM mapping confirmed by DO. [SN]. Binder syndrome An autosomal dominant disease characterized by abnormalities of the front part of the eye, the anterior segment. ICD10CM:Q13.81 MESH:C535679 ORDO:782 SNOMEDCT_US_2016_03_01:47507006 SNOMEDCT_US_2016_03_01:86628002 UMLS_CUI:C0265341 Anomaly, Rieger's Axenfeld syndrome RGS - Rieger syndrome Rieger's anomaly disease_ontology Hagedoom syndrome DOID:14686 Xref MGI. OMIM mapping confirmed by DO. [SN]. Axenfeld-Rieger syndrome An autosomal dominant disease characterized by abnormalities of the front part of the eye, the anterior segment. url:http://en.wikipedia.org/wiki/Axenfeld_syndrome url:http://ghr.nlm.nih.gov/condition/axenfeld-rieger-syndrome Anomaly, Rieger's MTHICD9_2006:743.44 RGS - Rieger syndrome SNOMEDCT_2005_07_31:204154009 Rieger's anomaly SNOMEDCT_2005_07_31:86628002 An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism. ICD10CM:Q77.5 MESH:C536170 OMIM:222600 SNOMEDCT_US_2016_03_01:58561002 UMLS_CUI:C0220726 disease_ontology DOID:14687 OMIM mapping confirmed by DO. [SN]. diastrophic dysplasia An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism. url:http://emedicine.medscape.com/article/1257787-overview url:http://en.wikipedia.org/wiki/Diastrophic_dysplasia url:http://ghr.nlm.nih.gov/condition/diastrophic-dysplasia url:http://www.ncbi.nlm.nih.gov/books/NBK22219/ Major depressive disorder, single episode in full remission Single major depressive episode, in full remission (disorder) disease_ontology DOID:1469 single major depressive episode in full remission true Major depressive disorder, single episode in full remission ICD9CM_2006:296.26 Single major depressive episode, in full remission (disorder) SNOMEDCT_2005_07_31:191606003 DOID:4366 ICD10CM:E78.72 MESH:D019082 NCI:C85071 OMIM:270400 SNOMEDCT_US_2016_03_01:43929004 UMLS_CUI:C0175694 Rutledge lethal multiple congenital anomaly syndrome Smith-Opitz-Inborn syndrome disease_ontology DOID:14692 OMIM mapping confirmed by DO. [LS]. Smith-Lemli-Opitz syndrome Smith-Opitz-Inborn syndrome CSP2005:5002-0023 MESH:D004476 OMIM:129500 SNOMEDCT_US_2016_03_01:54209007 UMLS_CUI:C0162361 Clouston's hidrotic ectodermal dysplasia Clouston's syndrome Hidrotic ectodermal dysplasia syndrome (disorder) hidrotic ectodermal dysplasia disease_ontology DOID:14693 OMIM mapping confirmed by DO. [SN]. Clouston syndrome Clouston's syndrome CSP2005:1254-7727 Hidrotic ectodermal dysplasia syndrome (disorder) SNOMEDCT_2005_07_31:54209007 An autosomal recessive disease that involves abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure. It is inherited in an autosomal recessive manner. MESH:C535880 OMIM:243800 SNOMEDCT_US_2016_03_01:75979009 UMLS_CUI:C0175692 Johanson-Blizzard syndrome (disorder) disease_ontology DOID:14694 OMIM mapping confirmed by DO. [SN]. Johanson-Blizzard syndrome An autosomal recessive disease that involves abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure. It is inherited in an autosomal recessive manner. url:http://en.wikipedia.org/wiki/Johanson-Blizzard_syndrome Johanson-Blizzard syndrome (disorder) SNOMEDCT_2005_07_31:75979009 A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase. ICD10CM:E74.29 MESH:D005693 NCI:C114767 OMIM:230200 SNOMEDCT_US_2016_03_01:124302001 SNOMEDCT_US_2016_03_01:18612007 UMLS_CUI:C0268155 Galactosemia II disease_ontology DOID:14695 OMIM mapping confirmed by DO. [SN]. galactokinase deficiency A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase. url:http://en.wikipedia.org/wiki/Galactokinase_deficiency Galactosemia II SNOMEDCT_2005_07_31:18612007 ICD10CM:Q87.2 MESH:C536940 NCI:C99038 OMIM:274000 SNOMEDCT_US_2016_03_01:85589009 UMLS_CUI:C0175703 Radial aplasia-thrombocytopenia syndrome (disorder) Thrombocytopenia with absent radii (TAR) syndrome chromosome 1q21.1 deletion syndrome disease_ontology DOID:14699 OMIM mapping confirmed by DO. [LS]. thrombocytopenia-absent radius syndrome Radial aplasia-thrombocytopenia syndrome (disorder) SNOMEDCT_2005_07_31:85589009 Thrombocytopenia with absent radii (TAR) syndrome MTHICD9_2006:287.33 An endogenous depression that is characterized by an all-encompassing low mood accompanied by low self-esteem, and by loss of interest or pleasure in normally enjoyable activities. DOID:10614 DOID:2240 DOID:2241 DOID:7580 ICD10CM:F32 ICD10CM:F32.9 ICD10CM:F33 ICD10CM:F33.9 ICD9CM:296.2 ICD9CM:296.20 ICD9CM:296.3 ICD9CM:296.30 MESH:D003865 NCI:C34796 OMIM:608520 OMIM:608691 SNOMEDCT_US_2016_03_01:191599006 SNOMEDCT_US_2016_03_01:191600009 SNOMEDCT_US_2016_03_01:191607007 SNOMEDCT_US_2016_03_01:191608002 SNOMEDCT_US_2016_03_01:191609005 SNOMEDCT_US_2016_03_01:191617002 SNOMEDCT_US_2016_03_01:192366006 SNOMEDCT_US_2016_03_01:268620009 SNOMEDCT_US_2016_03_01:268621008 SNOMEDCT_US_2016_03_01:36923009 SNOMEDCT_US_2016_03_01:66344007 UMLS_CUI:C0024517 UMLS_CUI:C0154409 recurrent major depression single major depressive episode disease_ontology DOID:1470 Xref MGI. major depressive disorder An endogenous depression that is characterized by an all-encompassing low mood accompanied by low self-esteem, and by loss of interest or pleasure in normally enjoyable activities. url:http://en.wikipedia.org/wiki/Major_depressive_disorder An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of aminio acids and fats into sugar for energy. DOID:14706 ICD10CM:E71.121 MESH:D056693 NCI:C85030 OMIM:606054 SNOMEDCT_US_2016_03_01:124718009 SNOMEDCT_US_2016_03_01:18979005 SNOMEDCT_US_2016_03_01:237948001 SNOMEDCT_US_2016_03_01:360364008 SNOMEDCT_US_2016_03_01:367417005 SNOMEDCT_US_2016_03_01:69080001 UMLS_CUI:C0268579 UMLS_CUI:C2717876 GLYCINEMIA, KETOTIC KETOTIC HYPERGLYCINEMIA ketotic II glycinemia ketotic glycinemia propionic aciduria propionyl-CoA carboxylase deficiency disease_ontology DOID:14701 OMIM mapping confirmed by DO. [SN]. propionic acidemia An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of aminio acids and fats into sugar for energy. url:http://en.wikipedia.org/wiki/Propionic_acidemia MESH:D019280 NCI:C98983 OMIM:113650 OMIM:610896 SNOMEDCT_US_2016_03_01:205806009 SNOMEDCT_US_2016_03_01:290006 UMLS_CUI:C0265234 Branchio-Oto-renal syndrome Branchio-otorenal dysplasia Melnick-Fraser syndrome (disorder) branchiootorenal dysplasia disease_ontology DOID:14702 OMIM mapping confirmed by DO. [SN]. branchiootorenal syndrome Branchio-Oto-renal syndrome MTH:NOCODE Branchio-otorenal dysplasia SNOMEDCT_2005_07_31:205806009 Melnick-Fraser syndrome (disorder) SNOMEDCT_2005_07_31:290006 An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull. MESH:D000168 NCI:C99100 OMIM:101600 SNOMEDCT_US_2016_03_01:70410008 UMLS_CUI:C0220658 acrocephalosyndactylia type V disease_ontology DOID:14705 OMIM mapping confirmed by DO. [SN]. Pfeiffer syndrome An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull. url:http://en.wikipedia.org/wiki/Pfeiffer_syndrome url:http://ghr.nlm.nih.gov/condition/pfeiffer-syndrome url:http://www.faces-cranio.org/Disord/Pfeiffer.htm url:http://www.healthline.com/galecontent/pfeiffer-syndrome An X-linked disease characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern. MESH:C537923 OMIM:300321 OMIM:300406 OMIM:300422 OMIM:300581 OMIM:305450 ORDO:323 ORDO:93932 SNOMEDCT_US_2016_03_01:49984004 UMLS_CUI:C0220769 Keller syndrome Opitz-Kaveggia syndrome disease_ontology DOID:14711 Xref MGI. OMIM mapping confirmed by DO. [SN]. FG syndrome An X-linked disease characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern. url:http://en.wikipedia.org/wiki/FG_syndrome url:http://ghr.nlm.nih.gov/condition/fg-syndrome url:http://rarediseases.info.nih.gov/gard/2317/fg-syndrome/resources/1 A myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery. MESH:D020914 NCI:C84648 OMIM:160150 OMIM:255200 OMIM:310400 OMIM:614408 OMIM:614807 OMIM:615959 ORDO:595 ORDO:596 ORDO:69186 ORDO:69189 SNOMEDCT_US_2016_03_01:193223007 SNOMEDCT_US_2016_03_01:82077006 UMLS_CUI:C0175709 myotubular myopathy disease_ontology DOID:14717 Xref MGI. centronuclear myopathy A myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery. url:http://en.wikipedia.org/wiki/Centronuclear_myopathy url:http://ghr.nlm.nih.gov/condition/centronuclear-myopathy myotubular myopathy MTHICD9_2006:359.0 MESH:C536194 OMIM:130000 SNOMEDCT_US_2016_03_01:83470009 UMLS_CUI:C0268335 Ehlers-Danlos syndrome, type 1 (disorder) disease_ontology DOID:14720 OMIM mapping confirmed by DO. [LS]. type I Ehlers-Danlos syndrome Ehlers-Danlos syndrome, type 1 (disorder) SNOMEDCT_2005_07_31:83470009 MESH:C535818 OMIM:203750 SNOMEDCT_US_2016_03_01:238067002 UMLS_CUI:C1533628 2-methyl-3-hydroxybutyricacidemia 3-ketothiolase deficiency 3-oxothiolase deficiency Mitochondrial acetoacetyl-CoA Thiolase deficiency alpha-methylacetoaceticaciduria peroxisomal thiolase deficiency (disorder) disease_ontology DOID:14723 OMIM mapping confirmed by DO. [SN]. beta-ketothiolase deficiency peroxisomal thiolase deficiency (disorder) SNOMEDCT_2005_07_31:238067002 MESH:C537323 OMIM:156580 UMLS_CUI:C0220693 disease_ontology DOID:14725 OMIM mapping confirmed by DO. [SN]. autosomal dominant microcephaly disease_ontology DOID:14727 dominant cogenital severe sensorineural deafness true MESH:C562443 OMIM:277590 UMLS_CUI:C0220765 WEAVER-LIKE SYNDROME Weaver-Williams syndrome disease_ontology DOID:14731 OMIM mapping confirmed by DO. [LS]. Weaver syndrome MESH:D054179 NCI:C84758 OMIM:106100 OMIM:610618 SNOMEDCT_US_2016_03_01:82966003 UMLS_CUI:C0019243 HANE Hereditary angioedema Hereditary angioneurotic edema (disorder) disease_ontology DOID:14735 OMIM mapping confirmed by DO. [SN]. hereditary angioedema HANE CSP2005:1849-1576 Hereditary angioedema MTHICD9_2006:277.6 Hereditary angioneurotic edema (disorder) SNOMEDCT_2005_07_31:82966003 MESH:C536456 OMIM:304110 UMLS_CUI:C0220767 craniofrontonasal dysplasia disease_ontology DOID:14737 OMIM mapping confirmed by DO. [SN]. craniofrontonasal syndrome disease_ontology DOID:14739 progressive high-tone neural deafness true A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium. ICD10CM:K05.2 MESH:D010520 OMIM:170650 OMIM:608526 SNOMEDCT_US_2016_03_01:2624008 SNOMEDCT_US_2016_03_01:449908004 SNOMEDCT_US_2016_03_01:49965002 UMLS_CUI:C0031106 juvenile periodontitis disease_ontology DOID:1474 OMIM mapping confirmed by DO. [SN]. aggressive periodontitis A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium. url:http://en.wikipedia.org/wiki/Aggressive_periodontitis juvenile periodontitis CSP2005:0828-4592 An autosomal dominant disease that is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly). DOID:0050552 MESH:C536820 NCI:C75109 OMIM:190350 OMIM:190351 SNOMEDCT_US_2016_03_01:239016009 SNOMEDCT_US_2016_03_01:254091006 UMLS_CUI:C0432233 Sugio-Kajii syndrome type I trichorhinophalangeal syndrome type III trichorhinophalangeal syndrome disease_ontology Trichorhinophalangeal dysplasia type I DOID:14743 OMIM mapping confirmed by DO. [LS]. trichorhinophalangeal syndrome type I An autosomal dominant disease that is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly). url:http://rarediseases.info.nih.gov/gard/7802/trichorhinophalangeal-syndrome-type-3/resources/1 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=77258 url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/732/viewAbstract Trichorhinophalangeal dysplasia type I MTH:NOCODE A syndrome characterized by intellectual disability, focal dystonia of the hands and dysarthria. MESH:C562446 OMIM:309510 OMIM:312780 ORDO:94083 UMLS_CUI:C0220775 X-linked Russell-Silver syndrome disease_ontology DOID:14744 OMIM mapping confirmed by DO. [SN]. OMIM mapping submitted by NeuroDevNet. [LS]. Partington syndrome A syndrome characterized by intellectual disability, focal dystonia of the hands and dysarthria. url:http://ghr.nlm.nih.gov/condition/partington-syndrome url:http://www.ncbi.nlm.nih.gov/pubmed/?term=23622180 An autosomal recessive disease that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life. ICD10CM:Q87.3 MESH:D058495 NCI:C75019 OMIM:117550 OMIM:614753 ORDO:821 SNOMEDCT_US_2016_03_01:75968004 UMLS_CUI:C0175695 cerebral gigantism disease_ontology DOID:14748 Xref MGI. Sotos syndrome An autosomal recessive disease that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life. url:http://en.wikipedia.org/wiki/Cerebral_gigantism An organic acidemia that involves an accumulation of methylmalonic acid in the blood. DOID:14782 DOID:14802 METHYLMALONIC ACIDEMIA, cblA TYPE METHYLMALONIC ACIDEMIA, cblB TYPE METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblA TYPE METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblB TYPE METHYLMALONIC ACIDURIA, mut TYPE METHYLMALONICACIDURIA DUE TO METHYLMALONIC CoA MUTASE deficiency METHYLMALONICACIDURIA, vitamin B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN--cbl A METHYLMALONICACIDURIA, vitamin B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN--cbl B methylmalonic aciduria methylmalonic aciduria cblB type methylmalonic aciduria mut type methylmalonic aciduria type cblA methylmalonic aciduria type cblB disease_ontology DOID:14749 OMIM mapping confirmed by DO. [SN]. methylmalonic acidemia An organic acidemia that involves an accumulation of methylmalonic acid in the blood. url:http://ghr.nlm.nih.gov/condition/methylmalonic-acidemia url:http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002147/ ICD10CM:D18.1 ICD9CM:228.1 MESH:D008202 NCI:C8965 SNOMEDCT_US_2016_03_01:154625006 SNOMEDCT_US_2016_03_01:189200000 SNOMEDCT_US_2016_03_01:189875000 SNOMEDCT_US_2016_03_01:253057002 SNOMEDCT_US_2016_03_01:254836000 SNOMEDCT_US_2016_03_01:269646001 SNOMEDCT_US_2016_03_01:400178008 SNOMEDCT_US_2016_03_01:69044001 SNOMEDCT_US_2016_03_01:93168006 UMLS_CUI:C0024221 Congenital lymphangioma benign lymphangioma (morphologic abnormality) disease_ontology DOID:1475 lymphangioma Congenital lymphangioma SNOMEDCT_2005_07_31:189200000 benign lymphangioma (morphologic abnormality) SNOMEDCT_2005_07_31:253057002 An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine. ICD10CM:E71.110 MESH:C538167 NCI:C98964 OMIM:243500 SNOMEDCT_US_2016_03_01:87827003 UMLS_CUI:C0268575 Isovaleryl-CoA dehydrogenase deficiency (disorder) isovaleric acid CoA dehydrogenase deficiency isovaleric aciduria disease_ontology DOID:14753 OMIM mapping confirmed by DO. [SN]. isovaleric acidemia An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine. url:http://en.wikipedia.org/wiki/Isovaleric_acidemia Isovaleryl-CoA dehydrogenase deficiency (disorder) SNOMEDCT_2005_07_31:87827003 An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine. MESH:D056807 NCI:C84569 OMIM:207900 SNOMEDCT_US_2016_03_01:124630007 SNOMEDCT_US_2016_03_01:41013004 UMLS_CUI:C0268547 Argininosuccinate lyase deficiency (disorder) argininosuccinic acidemia arginosuccinase deficiency deficiency of argininosuccinate lyase (disorder) disease_ontology DOID:14755 OMIM mapping confirmed by DO. [SN]. argininosuccinic aciduria An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine. url:http://en.wikipedia.org/wiki/Argininosuccinic_aciduria Argininosuccinate lyase deficiency (disorder) SNOMEDCT_2005_07_31:41013004 arginosuccinase deficiency CSP2005:1849-9435 deficiency of argininosuccinate lyase (disorder) SNOMEDCT_2005_07_31:124630007 OMIM:130050 disease_ontology DOID:14756 autosomal dominant type IV Ehlers-Danlos syndrome MESH:C536196 OMIM:130020 SNOMEDCT_US_2016_03_01:30652003 UMLS_CUI:C0268337 Ehlers-Danlos syndrome, type 3 (disorder) disease_ontology DOID:14757 OMIM mapping confirmed by DO. [LS]. type III Ehlers-Danlos syndrome Ehlers-Danlos syndrome, type 3 (disorder) SNOMEDCT_2005_07_31:30652003 SNOMEDCT_US_2016_03_01:70610001 UMLS_CUI:C0268340 Ehlers-Danlos syndrome, recessive type 4 (disorder) disease_ontology DOID:14759 autosomal recessive type IV Ehlers-Danlos syndrome Ehlers-Danlos syndrome, recessive type 4 (disorder) SNOMEDCT_2005_07_31:70610001 An acrocephalosyndactylia that has_material_basis_in mutation in the GLI3 gene which results_in abnormal development located_in limb, located_in head, located_in face. DOID:9251 MESH:C537300 NCI:C35255 OMIM:175700 SNOMEDCT_US_2016_03_01:32985001 UMLS_CUI:C0265306 polysyndactyly with peculiars skull shape disease_ontology DOID:14761 OMIM mapping confirmed by DO. [SN]. Greig cephalopolysyndactyly syndrome An acrocephalosyndactylia that has_material_basis_in mutation in the GLI3 gene which results_in abnormal development located_in limb, located_in head, located_in face. url:http://en.wikipedia.org/wiki/Greig_cephalopolysyndactyly_syndrome url:http://ghr.nlm.nih.gov/condition/greig-cephalopolysyndactyly-syndrome url:http://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=6550 A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet. OMIM:186400 SNOMEDCT_US_2016_03_01:62628008 UMLS_CUI:C0175700 Multiple synostosis syndrome (disorder) SYNOSTOSES, TARSAL, CARPAL AND DIGITAL disease_ontology DOID:14762 OMIM mapping confirmed by DO. [LS]. calcaneonavicular coalition A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet. url:http://ghr.nlm.nih.gov/condition/tarsal-carpal-coalition-syndrome Multiple synostosis syndrome (disorder) SNOMEDCT_2005_07_31:62628008 An autosomal dominant disease that is characterized by large-joint dislocations and characteristic craniofacial abnormalities. OMIM:150250 dominant larsen syndrome disease_ontology DOID:14764 OMIM mapping confirmed by DO. [SN]. Larsen syndrome An autosomal dominant disease that is characterized by large-joint dislocations and characteristic craniofacial abnormalities. url:http://en.wikipedia.org/wiki/Larsen_syndrome OMIM:191830 hereditary renal aplasia hereditary urogenital adysplasia renal adysplasia renal aplasia disease_ontology DOID:14766 renal agenesis An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull. MESH:D000168 NCI:C75034 OMIM:101400 SNOMEDCT_US_2016_03_01:390726000 SNOMEDCT_US_2016_03_01:390746005 SNOMEDCT_US_2016_03_01:83015004 UMLS_CUI:C0175699 disease_ontology acrocephalosyndactyly type III DOID:14768 OMIM mapping confirmed by DO. [SN]. Saethre-Chotzen syndrome An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull. url:http://children.webmd.com/saethre-chotzen-syndrome url:http://en.wikipedia.org/wiki/Saethre-Chotzen_syndrome url:http://ghr.nlm.nih.gov/condition/saethre-chotzen-syndrome url:http://www.faces-cranio.org/Disord/Saethre.htm url:http://www.healthline.com/galecontent/saethre-chotzen-syndrome DOID:0080022 MESH:C535916 NCI:C61245 OMIM:250250 SNOMEDCT_US_2016_03_01:234421004 SNOMEDCT_US_2016_03_01:7720002 UMLS_CUI:C0220748 McKusick type metaphyseal chondrodysplasia Metaphyseal chondrodysplasia, McKusick type disease_ontology DOID:14773 OMIM mapping confirmed by DO. [SN]. cartilage-hair hypoplasia Metaphyseal chondrodysplasia, McKusick type SNOMEDCT_2005_07_31:234421004 MESH:C536198 OMIM:229200 OMIM:614170 SNOMEDCT_US_2016_03_01:25606004 UMLS_CUI:C0268342 Kyphoscoliosis type brittle cornea syndrome 2 type VIB Ehlers-Danlos syndrome disease_ontology DOID:14775 OMIM mapping confirmed by DO. [LS]. brittle cornea syndrome Kyphoscoliosis type SNOMEDCT_2005_07_31:25606004 MESH:D020936 SNOMEDCT_US_2016_03_01:230410004 SNOMEDCT_US_2016_03_01:279953009 UMLS_CUI:C0220669 familial neonatal seizures (disorder) disease_ontology DOID:14777 benign familial neonatal epilepsy familial neonatal seizures (disorder) SNOMEDCT_2005_07_31:279953009 MESH:C562419 OMIM:110100 SNOMEDCT_US_2016_03_01:79833006 UMLS_CUI:C0220663 disease_ontology Blepharophimosis, ptosis, epicanthus inversus syndrome DOID:14778 OMIM mapping confirmed by DO. [SN]. blepharophimosis, ptosis, and epicanthus inversus syndrome A syndrome that is characterized by short stature, moderate to severe degrees of mental retardation, developmental abnormalities of the limbs, bones of the spine (vertebrae), extremities, and/or underdevelopment of the bones of the skeleton. MESH:C537015 OMIM:148050 ORDO:2332 SNOMEDCT_US_2016_03_01:711156009 UMLS_CUI:C0220687 disease_ontology DOID:14780 OMIM mapping confirmed by DO. [SN]. KBG syndrome A syndrome that is characterized by short stature, moderate to severe degrees of mental retardation, developmental abnormalities of the limbs, bones of the spine (vertebrae), extremities, and/or underdevelopment of the bones of the skeleton. url:http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=KBG%20Syndrome A neurodegenerative disease that is characterized by progressive cerebellar ataxia, leading to clumsiness in body movements, veering from midline when walking, wide-based stance, and falls without signs of paralysis or weakness and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in degeneration of neuron in the cerebellum, pons and inferior olives. DOID:12708 ICD10:G23.8 MESH:D009849 NCI:C84947 SNOMEDCT_US_2016_03_01:192834006 SNOMEDCT_US_2016_03_01:37250002 SNOMEDCT_US_2016_03_01:67761004 UMLS_CUI:C0028968 Dejerine-Thomas syndrome Thomas' syndrome WADIA-SWAMI SYNDROME disease_ontology DOID:14784 OMIM mapping confirmed by DO. [SN]. olivopontocerebellar atrophy A neurodegenerative disease that is characterized by progressive cerebellar ataxia, leading to clumsiness in body movements, veering from midline when walking, wide-based stance, and falls without signs of paralysis or weakness and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in degeneration of neuron in the cerebellum, pons and inferior olives. url:http://www.ninds.nih.gov/disorders/opca/opca.htm Dejerine-Thomas syndrome MTHICD9_2006:333.0 Thomas' syndrome SNOMEDCT_2005_07_31:37250002 disease_ontology DOID:14787 OMIM mapping confirmed by DO. [SN]. Fryns syndrome true OMIM:183900 Late Spondyloepiphyseal Dysplasia SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED; SEDT disease_ontology DOID:14789 OMIM mapping confirmed by DO. [SN]. spondyloepiphyseal dysplasia congenita Late Spondyloepiphyseal Dysplasia MTH:NOCODE A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness. MESH:D057130 OMIM:PS204000 ORDO:65 SNOMEDCT_US_2016_03_01:193413001 UMLS_CUI:C0339527 LCA Leber's amaurosis Leber's congenital amaurosis Leber's disease disease_ontology DOID:14791 Xref MGI. OMIM mapping confirmed by DO. [SN]. Leber congenital amaurosis A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness. url:http://en.wikipedia.org/wiki/Leber%27s_congenital_amaurosis Leber's amaurosis SNOMEDCT_2005_07_31:193413001 Leber's congenital amaurosis CSP2005:1114-9698 Leber's disease CSP2005:5000-0048 A monogenic disease that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). DOID:0050446 DOID:0050447 MESH:D053358 NCI:C84562 OMIM:129490 OMIM:224900 OMIM:300291 OMIM:305100 SNOMEDCT_US_2016_03_01:239007005 SNOMEDCT_US_2016_03_01:4826006 SNOMEDCT_US_2016_03_01:7731005 UMLS_CUI:C0162359 Christ-Siemens-Touraine Syndrome Ectodermal Dysplasia 1, Anhydrotic Hypohidrotic X-linked ectodermal dysplasia (disorder) anhidrotic ectodermal dysplasia 3 disease_ontology DOID:14793 OMIM mapping confirmed by DO. [SN]. hypohidrotic ectodermal dysplasia A monogenic disease that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). url:http://ghr.nlm.nih.gov/condition/hypohidrotic-ectodermal-dysplasia url:http://www.ncbi.nlm.nih.gov/books/NBK1112/ url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=238468 Hypohidrotic X-linked ectodermal dysplasia (disorder) SNOMEDCT_2005_07_31:239007005 A syndrome that is a rare genetic disorder characterized by microcephaly, growth retardation and a characteristic facial appearance like small, round, triangular shaped with a pointed, receding chin, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids. ICD10CM:Q87.1 MESH:C535718 MedDRA:10059589 OMIM:223370 SNOMEDCT_US_2016_03_01:2593002 UMLS_CUI:C0175691 Dubowitz's syndrome (disorder) disease_ontology DOID:14796 OMIM mapping confirmed by DO. [SN]. Dubowitz syndrome A syndrome that is a rare genetic disorder characterized by microcephaly, growth retardation and a characteristic facial appearance like small, round, triangular shaped with a pointed, receding chin, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids. url:http://en.wikipedia.org/wiki/Dubowitz_syndrome Dubowitz's syndrome (disorder) SNOMEDCT_2005_07_31:2593002 An osteochondrodysplasia that results_in inward turning of lower leg, located_in tibia, which fails to develop normally. MESH:C536237 OMIM:188700 OMIM:259200 UMLS_CUI:C0220757 Blount disease familial infantile type osteochondrosis deformans tibiae disease_ontology DOID:14798 OMIM mapping confirmed by DO. [SN]. Blount's disease An osteochondrodysplasia that results_in inward turning of lower leg, located_in tibia, which fails to develop normally. url:http://en.wikipedia.org/wiki/Blount%27s_disease url:http://www.columbiaortho.org/children/blountsdisease.html url:http://www.e-radiography.net/radpath/b/blountsdisease.htm url:http://www.nlm.nih.gov/medlineplus/ency/article/001584.htm url:http://www.wheelessonline.com/ortho/blounts_disease MESH:D005882 SNOMEDCT_US_2016_03_01:155642009 SNOMEDCT_US_2016_03_01:18718003 SNOMEDCT_US_2016_03_01:266489007 UMLS_CUI:C0017563 disease_ontology DOID:1483 gingival disease An autosomal recessive disease that is characterized by the buildup of thick, sticky mucus that can damage many organs. DOID:12447 DOID:13383 DOID:14395 DOID:1484 ICD10CM:E84 ICD10CM:E84.9 ICD9CM:277.0 MESH:D003550 NCI:C2975 OMIM:219700 SNOMEDCT_US_2016_03_01:154767009 SNOMEDCT_US_2016_03_01:190905008 SNOMEDCT_US_2016_03_01:190911006 SNOMEDCT_US_2016_03_01:85809002 UMLS_CUI:C0010674 CF mucoviscidosis disease_ontology DOID:1485 OMIM mapping confirmed by DO. [SN]. cystic fibrosis An autosomal recessive disease that is characterized by the buildup of thick, sticky mucus that can damage many organs. url:http://en.wikipedia.org/wiki/Cystic_fibrosis url:http://ghr.nlm.nih.gov/condition/cystic-fibrosis url:http://www.nhlbi.nih.gov/health/health-topics/topics/cf/ Syphilitic chorioretinitis (secondary) secondary syphilitic chorioretinitis (disorder) disease_ontology DOID:1486 secondary syphilitic chorioretinitis true Syphilitic chorioretinitis (secondary) ICD9CM_2006:091.51 secondary syphilitic chorioretinitis (disorder) SNOMEDCT_2005_07_31:66281009 Syphilitic uveitis unspecified (disorder) Syphilitic uveitis, unspecified Uveitis due to secondary syphilis Uveitis due to secondary syphilis (disorder) secondary syphilitic uveitis (disorder) secondary syphilitic uveitis NOS (disorder) disease_ontology DOID:1487 secondary syphilitic uveitis true Syphilitic uveitis unspecified (disorder) SNOMEDCT_2005_07_31:186855008 Syphilitic uveitis, unspecified ICD9CM_2006:091.50 Uveitis due to secondary syphilis ICD9CM_2006:091.5 Uveitis due to secondary syphilis (disorder) SNOMEDCT_2005_07_31:186854007 secondary syphilitic uveitis (disorder) SNOMEDCT_2005_07_31:70983007 secondary syphilitic uveitis NOS (disorder) SNOMEDCT_2005_07_31:186857000 disease_ontology DOID:1491 corneal anesthesia and hypoesthesia true A sensory system disease that is located_in the eye or the adnexa of the eye. ICD10CM:H35.00 ICD9CM:362.10 SNOMEDCT_US_2016_03_01:193355009 SNOMEDCT_US_2016_03_01:31411005 SNOMEDCT_US_2016_03_01:42873008 UMLS_CUI:C0004608 disease_ontology DOID:1492 eye and adnexa disease A sensory system disease that is located_in the eye or the adnexa of the eye. url:http://en.wikipedia.org/wiki/Category:Diseases_of_the_eye_and_adnexa An echinococcosis that is caused by the larvae of Echinococcus granulosus. Hepatic involvement can result in abdominal pain, a mass in the hepatic area, and biliary duct obstruction. Pulmonary involvement can produce chest pain, cough, and hemoptysis. Rupture of the cysts produce fever, urticaria, eosinophilia, and anaphylactic shock, as well as cyst dissemination. Brain, bone, heart can also be infected. DOID:13256 DOID:13708 DOID:14154 DOID:1493 ICD10CM:B67.4 ICD9CM:122.4 SNOMEDCT_US_2016_03_01:187138004 SNOMEDCT_US_2016_03_01:75006000 UMLS_CUI:C0152068 Echinococcus granulosus infection (disorder) Echinococcus granulosus infection of lung Echinococcus granulosus infection of lung (disorder) Echinococcus granulosus infection of thyroid (disorder) Echinococcus granulosus infection, unspecified Echinococcus granulosus infectious disease of liver (disorder) Liver echinococcus granulosus (disorder) Thyroid echinococcus granulosus (disorder) Unspecified echinococcus granulosus (disorder) echinococcus granulosus infectious disease echinococcus granulosus infectious disease of liver echinococcus granulosus infectious disease of thyroid lung echinococcus granulosus lung echinococcus granulosus (disorder) unilocular echinococcosis unilocular hydatid disease disease_ontology DOID:1495 cystic echinococcosis An echinococcosis that is caused by the larvae of Echinococcus granulosus. Hepatic involvement can result in abdominal pain, a mass in the hepatic area, and biliary duct obstruction. Pulmonary involvement can produce chest pain, cough, and hemoptysis. Rupture of the cysts produce fever, urticaria, eosinophilia, and anaphylactic shock, as well as cyst dissemination. Brain, bone, heart can also be infected. url:http://en.wikipedia.org/wiki/Echinococcosis url:http://www.dpd.cdc.gov/dpdx/HTML/Echinococcosis.htm Echinococcus granulosus infection (disorder) SNOMEDCT_2005_07_31:75006000 Echinococcus granulosus infection of lung ICD9CM_2006:122.1 Echinococcus granulosus infection of lung (disorder) SNOMEDCT_2005_07_31:75388006 Echinococcus granulosus infection of thyroid (disorder) SNOMEDCT_2005_07_31:65963007 Echinococcus granulosus infection, unspecified ICD9CM_2006:122.4 Echinococcus granulosus infectious disease of liver (disorder) SNOMEDCT_2005_07_31:20790006 Liver echinococcus granulosus (disorder) SNOMEDCT_2005_07_31:187133008 Thyroid echinococcus granulosus (disorder) SNOMEDCT_2005_07_31:187135001 Unspecified echinococcus granulosus (disorder) SNOMEDCT_2005_07_31:187138004 lung echinococcus granulosus (disorder) SNOMEDCT_2005_07_31:187134002 A parasitic helminthiasis infectious disease that involves parasitic infection of humans and domestic animals caused by the larval stages of tapeworms of the genus Echinococcus in the liver, lungs, spleen, brain, heart and kidneys. DOID:12149 DOID:2783 ICD10CM:B67 ICD10CM:B67.90 ICD9CM:122 MESH:D004443 NCI:C84682 SNOMEDCT_US_2016_03_01:154414008 SNOMEDCT_US_2016_03_01:187143006 SNOMEDCT_US_2016_03_01:74942003 UMLS_CUI:C0013502 Echinococcosis of liver (disorder) Echinococcosis, unspecified, of liver Echinococcosis, unspecified, of liver (disorder) Liver echinococcus unspecified (disorder) echinococcal disease hepatic echinococcosis hydatid disease hydatidosis pulmonary echinococcosis disease_ontology DOID:1496 echinococcosis A parasitic helminthiasis infectious disease that involves parasitic infection of humans and domestic animals caused by the larval stages of tapeworms of the genus Echinococcus in the liver, lungs, spleen, brain, heart and kidneys. url:http://emedicine.medscape.com/article/178648-overview url:http://en.wikipedia.org/wiki/Echinococcosis url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=echinococcosis Echinococcosis of liver (disorder) SNOMEDCT_2005_07_31:26103000 Echinococcosis, unspecified, of liver ICD9CM_2006:122.8 Echinococcosis, unspecified, of liver (disorder) SNOMEDCT_2005_07_31:187523006 Liver echinococcus unspecified (disorder) SNOMEDCT_2005_07_31:187142001 hepatic echinococcosis CSP2005:1754-8052 A primary bacterial infectious disease that is described as an acute, diarrheal illness caused by infection of the intestine with the bacterium Vibrio cholerae, which is characterized by profuse watery diarrhea, vomiting, leg cramps, circulatory collapse and shock. ICD10CM:A00 ICD10CM:A00.0 ICD10CM:A00.9 ICD9CM:001 ICD9CM:001.0 ICD9CM:001.9 MESH:D002771 SNOMEDCT_US_2016_03_01:154269008 SNOMEDCT_US_2016_03_01:186087007 SNOMEDCT_US_2016_03_01:186088002 SNOMEDCT_US_2016_03_01:186089005 SNOMEDCT_US_2016_03_01:187267007 SNOMEDCT_US_2016_03_01:61972007 SNOMEDCT_US_2016_03_01:63650001 UMLS_CUI:C0008354 (Cholera) or (Vibrio cholerae) Cholera - Vibrio cholerae (disorder) Cholera due to Vibrio cholerae disease_ontology DOID:1498 cholera A primary bacterial infectious disease that is described as an acute, diarrheal illness caused by infection of the intestine with the bacterium Vibrio cholerae, which is characterized by profuse watery diarrhea, vomiting, leg cramps, circulatory collapse and shock. url:http://www.cdc.gov/nczved/divisions/dfbmd/diseases/cholera/#what url:http://www.cdc.gov/nczved/divisions/dfbmd/diseases/cholera/technical.html (Cholera) or (Vibrio cholerae) SNOMEDCT_2005_07_31:186087007 Cholera - Vibrio cholerae (disorder) SNOMEDCT_2005_07_31:186088002 Cholera due to Vibrio cholerae ICD9CM_2006:001.0 Infection due to non-cholerae vibrio vibriosis disease_ontology DOID:1499 Vibrio infectious disease true Infection due to non-cholerae vibrio SNOMEDCT_2005_07_31:398557001 vibriosis CSP2005:0368-4082 A disease of anatomical entity that is located_in reproductive system organs. DOID:6309 NCI:C27613 UMLS_CUI:C1335037 genital system disease disease_ontology DOID:15 reproductive system disease A disease of anatomical entity that is located_in reproductive system organs. url:http://en.wikipedia.org/wiki/Reproductive_system A disease that involves a psychological or behavioral pattern generally associated with subjective distress or disability that occurs in an individual, and which are not a part of normal development or culture. ICD10CM:F99 ICD10CM:F99-F99 MESH:D001523 NCI:C2893 SNOMEDCT_US_2016_03_01:154843007 SNOMEDCT_US_2016_03_01:154971002 SNOMEDCT_US_2016_03_01:154972009 SNOMEDCT_US_2016_03_01:154980002 SNOMEDCT_US_2016_03_01:192637001 SNOMEDCT_US_2016_03_01:192639003 SNOMEDCT_US_2016_03_01:74732009 UMLS_CUI:C0004936 disease_ontology DOID:150 disease of mental health A disease that involves a psychological or behavioral pattern generally associated with subjective distress or disability that occurs in an individual, and which are not a part of normal development or culture. url:http://en.wikipedia.org/wiki/Mental_disorder An opportunistic mycosis that involves fungal infection of the mouth, throat, skin, scalp, vagina, fingers, nails, bronchi, lungs, heart and brain by Candida species, of which Candida albicans is the most common. Systemic Candida infections are usually confined to severely immunocompromised persons. DOID:1507 ICD10CM:B37 ICD10CM:B37.9 ICD9CM:112 ICD9CM:112.9 MESH:D002177 NCI:C26711 SNOMEDCT_US_2016_03_01:154403005 SNOMEDCT_US_2016_03_01:187005005 SNOMEDCT_US_2016_03_01:187024008 SNOMEDCT_US_2016_03_01:187478002 SNOMEDCT_US_2016_03_01:78048006 UMLS_CUI:C0006840 Disseminated candidiasis systemic candidiasis disease_ontology DOID:1508 candidiasis An opportunistic mycosis that involves fungal infection of the mouth, throat, skin, scalp, vagina, fingers, nails, bronchi, lungs, heart and brain by Candida species, of which Candida albicans is the most common. Systemic Candida infections are usually confined to severely immunocompromised persons. url:http://en.wikipedia.org/wiki/Candidiasis url:http://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/ Disseminated candidiasis ICD9CM_2006:112.5 A personality disorder that is characterized by a pervasive pattern of social inhibition, feelings of inadequacy, extreme sensitivity to negative evaluation, and avoidance of social interaction. ICD10CM:F60.6 ICD9CM:301.82 MESH:D010554 NCI:C92636 SNOMEDCT_US_2016_03_01:191771004 SNOMEDCT_US_2016_03_01:37746008 UMLS_CUI:C0004444 anxious personality disorder disease_ontology DOID:1509 avoidant personality disorder A personality disorder that is characterized by a pervasive pattern of social inhibition, feelings of inadequacy, extreme sensitivity to negative evaluation, and avoidance of social interaction. url:http://en.wikipedia.org/wiki/Avoidant_personality_disorder A disease of mental health that involve long-term patterns of thoughts and behaviors that cause serious problems with relationships and work. ICD9CM:301.8 ICD9CM:301.89 SNOMEDCT_US_2016_03_01:191770003 SNOMEDCT_US_2016_03_01:191776009 SNOMEDCT_US_2016_03_01:268635005 SNOMEDCT_US_2016_03_01:268759009 UMLS_CUI:C0029707 character disorder disease_ontology DOID:1510 personality disorder A disease of mental health that involve long-term patterns of thoughts and behaviors that cause serious problems with relationships and work. url:http://www.nlm.nih.gov/medlineplus/personalitydisorders.html disease_ontology DOID:1511 residual schizophrenia chronic state with acute exacerbation true ICD9CM:098.35 SNOMEDCT_US_2016_03_01:76802005 UMLS_CUI:C0153206 Gonococcal cervicitis, chronic chronic gonococcal cervicitis disease_ontology DOID:1512 chronic gonorrhea of cervix Gonococcal cervicitis, chronic ICD9CM_2006:098.35 chronic gonococcal cervicitis SNOMEDCT_2005_07_31:76802005 NCI:C27057 SNOMEDCT_US_2016_03_01:198210003 SNOMEDCT_US_2016_03_01:56728002 UMLS_CUI:C0269062 disease_ontology DOID:1513 chronic cervicitis Syphilitic endocarditis of mitral valve (disorder) disease_ontology DOID:1515 mitral valve syphilitic endocarditis true Syphilitic endocarditis of mitral valve (disorder) SNOMEDCT_2005_07_31:186875004 Syphilitic endocarditis (disorder) disease_ontology DOID:1516 syphilitic endocarditis true Syphilitic endocarditis (disorder) SNOMEDCT_2005_07_31:67391006 An intestinal benign neoplasm that is located_in the cecum. MESH:D002430 NCI:C4433 SNOMEDCT_US_2016_03_01:126839008 UMLS_CUI:C0007528 cecum neoplasm neoplasm of caecum disease_ontology DOID:1517 cecal benign neoplasm An intestinal benign neoplasm that is located_in the cecum. url:http://en.wikipedia.org/wiki/Cecum cecum neoplasm NCI2004_11_17:C4433 neoplasm of caecum SNOMEDCT_2005_07_31:126839008 An intestinal disease located_in the cecum. MESH:D002429 SNOMEDCT_US_2016_03_01:128525008 UMLS_CUI:C0007527 disorder of cecum (disorder) disease_ontology DOID:1518 cecal disease An intestinal disease located_in the cecum. url:https://en.wikipedia.org/wiki/Cecum disorder of cecum (disorder) SNOMEDCT_2005_07_31:128525008 A cecum cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. NCI:C3491 SNOMEDCT_US_2016_03_01:154459000 SNOMEDCT_US_2016_03_01:187756005 SNOMEDCT_US_2016_03_01:255081007 SNOMEDCT_US_2016_03_01:269538009 UMLS_CUI:C0149640 Caecum carcinoma Cecal cancer carcinoma of cecum disease_ontology DOID:1519 cecum carcinoma A cecum cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma Caecum carcinoma SNOMEDCT_2005_07_31:269538009 Cecal cancer NCI2004_11_17:C3491 carcinoma of cecum SNOMEDCT_2005_07_31:187756005 A colon cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. NCI:C4910 SNOMEDCT_US_2016_03_01:154454005 SNOMEDCT_US_2016_03_01:269533000 UMLS_CUI:C0699790 Colonic carcinoma carcinoma OF colon carcinoma of colon carcinoma of colon (disorder) disease_ontology DOID:1520 OMIM mapping confirmed by DO. [SN]. colon carcinoma A colon cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma Colonic carcinoma NCI2004_11_17:C4910 carcinoma OF colon MTH:191 carcinoma of colon SNOMEDCT_2005_07_31:154454005 carcinoma of colon (disorder) SNOMEDCT_2005_07_31:269533000 A large intestine cancer that is located_in the cecum. ICD10CM:C18.0 ICD9CM:153.4 MESH:D002430 NCI:C9329 SNOMEDCT_US_2016_03_01:154459000 SNOMEDCT_US_2016_03_01:187756005 SNOMEDCT_US_2016_03_01:269538009 SNOMEDCT_US_2016_03_01:363350007 SNOMEDCT_US_2016_03_01:93736007 UMLS_CUI:C0153437 malignant neoplasm of caecum malignant tumor of the cecum disease_ontology DOID:1521 cecum cancer A large intestine cancer that is located_in the cecum. url:http://en.wikipedia.org/wiki/Cecum malignant neoplasm of caecum SNOMEDCT_2005_07_31:93736007 malignant tumor of the cecum NCI2004_11_17:C9329 NCI:C5515 UMLS_CUI:C1332867 Cecal Lymphoma disease_ontology DOID:1522 cecum lymphoma Cecal Lymphoma NCI2004_11_17:C5515 NCI:C4793 SNOMEDCT_US_2016_03_01:133751000119102 UMLS_CUI:C0519037 Colonic Lymphoma disease_ontology DOID:1523 colon lymphoma Colonic Lymphoma NCI2004_11_17:C4793 ICD10CM:M35.6 MESH:D010201 SNOMEDCT_US_2016_03_01:203120002 SNOMEDCT_US_2016_03_01:203121003 SNOMEDCT_US_2016_03_01:33760009 UMLS_CUI:C0030328 Relapsing febrile nodular nonsuppurative panniculitis (disorder) Weber - Christian disease Weber-Christian disease nodular non-suppurative febrile panniculitis disease_ontology DOID:1525 nodular nonsuppurative panniculitis Relapsing febrile nodular nonsuppurative panniculitis (disorder) SNOMEDCT_2005_07_31:33760009 Weber - Christian disease SNOMEDCT_2005_07_31:203120002 Weber-Christian disease MTHICD9_2006:729.30 nodular non-suppurative febrile panniculitis SNOMEDCT_2005_07_31:203121003 ICD10CM:M79.3 ICD9CM:729.3 ICD9CM:729.30 MESH:D015434 NCI:C112112 SNOMEDCT_US_2016_03_01:156779007 SNOMEDCT_US_2016_03_01:203119008 SNOMEDCT_US_2016_03_01:203120002 SNOMEDCT_US_2016_03_01:203122005 SNOMEDCT_US_2016_03_01:22125009 SNOMEDCT_US_2016_03_01:268012006 SNOMEDCT_US_2016_03_01:268122002 UMLS_CUI:C0030326 disease_ontology DOID:1526 panniculitis disease_ontology DOID:1528 penile non-neoplastic disease true ICD10CM:N48.8 ICD10CM:N48.89 ICD9CM:607.8 ICD9CM:607.89 SNOMEDCT_US_2016_03_01:198558008 UMLS_CUI:C0029785 disease_ontology DOID:1529 penile disease A mixed neoplasm that consist of epithelial tissue, and stromal or mesenchymal tissue. Fibroepithelial neoplasm (morphologic abnormality) Fibroepithelial neoplasm NOS (morphologic abnormality) Fibroepithelial tumor Fibroepithelial tumor (qualifier value) disease_ontology DOID:153 fibroepithelial neoplasm true A mixed neoplasm that consist of epithelial tissue, and stromal or mesenchymal tissue. url:http://en.wikipedia.org/wiki/Fibroepithelial_neoplasm Fibroepithelial neoplasm (morphologic abnormality) SNOMEDCT_2005_07_31:115230008 Fibroepithelial neoplasm (morphologic abnormality) SNOMEDCT_2005_07_31:189817004 Fibroepithelial neoplasm NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189828000 Fibroepithelial tumor NCI2004_11_17:C3743 Fibroepithelial tumor (qualifier value) SNOMEDCT_2005_07_31:134330009 disease_ontology DOID:1530 male non-neoplastic reproductive system disease true A thoracic disease which may involve inflammation of pleura, collection of air within the pleural cavity, abnormal collection of pleural fluid, abnormal growths on the pleura (pleural tumor) and pleural plaques. The main causes of pleural diseases including pleural effusions are congestive heart failure, malignancy, parapneumonic infections and pulmonary embolism. DOID:1531 MESH:D010995 NCI:C26859 SNOMEDCT_US_2016_03_01:88075009 UMLS_CUI:C0032226 disorder of pleura non-neoplastic pleural disease disease_ontology DOID:1532 pleural disease A thoracic disease which may involve inflammation of pleura, collection of air within the pleural cavity, abnormal collection of pleural fluid, abnormal growths on the pleura (pleural tumor) and pleural plaques. The main causes of pleural diseases including pleural effusions are congestive heart failure, malignancy, parapneumonic infections and pulmonary embolism. url:http://chestjournal.chestpubs.org/content/104/1/262.full.pdf+html url:http://content.karger.com/produktedb/produkte.asp?typ=fulltext&file=000112220 url:http://en.wikipedia.org/wiki/Pleural_disease disorder of pleura SNOMEDCT_2005_07_31:88075009 A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from two germinal layers of tissue. DOID:1905 MESH:D018198 NCI:C3729 NCI:C6930 SNOMEDCT_US_2016_03_01:189802003 SNOMEDCT_US_2016_03_01:8145008 UMLS_CUI:C0206625 UMLS_CUI:C1368354 malignant mixed cancer malignant mixed neoplasm mixed tumor mixed tumor, malignant (morphologic abnormality) mixed tumor, malignant, NOS (morphologic abnormality) disease_ontology malignant mixed tumor mixed neoplasm DOID:154 mixed cell type cancer A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from two germinal layers of tissue. url:http://medical-dictionary.thefreedictionary.com/mixed+neoplasm malignant mixed neoplasm NCI2004_11_17:C3729 mixed tumor NCI2004_11_17:C6930 mixed tumor, malignant (morphologic abnormality) SNOMEDCT_2005_07_31:8145008 mixed tumor, malignant, NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189802003 An endocrine gland cancer located_in the parathyroid glands located in the neck. DOID:11006 DOID:1541 ICD10CM:C75.0 ICD9CM:194.1 MESH:D010282 NCI:C3313 NCI:C4906 NCI:C9322 OMIM:608266 SNOMEDCT_US_2016_03_01:127020005 SNOMEDCT_US_2016_03_01:255037004 SNOMEDCT_US_2016_03_01:363481002 SNOMEDCT_US_2016_03_01:93943008 UMLS_CUI:C0030521 UMLS_CUI:C0153653 UMLS_CUI:C0687150 Parathyroid gland neoplasm carcinoma of Parathyroid gland malignant neoplasm of parathyroid gland malignant neoplasm of the Parathyroid malignant tumor of parathyroid gland (disorder) neoplasm of parathyroid gland parathyroid gland cancer parathyroid neoplasm disease_ontology parathyroid gland adenocarcinoma DOID:1540 OMIM mapping confirmed by DO. [SN]. parathyroid carcinoma An endocrine gland cancer located_in the parathyroid glands located in the neck. url:http://en.wikipedia.org/wiki/Parathyroid_gland Parathyroid gland neoplasm NCI2004_11_17:C3313 carcinoma of Parathyroid gland NCI2004_11_17:C4906 malignant neoplasm of parathyroid gland ICD9CM_2006:194.1 SNOMEDCT_2005_07_31:93943008 malignant neoplasm of the Parathyroid NCI2004_11_17:C9322 malignant tumor of parathyroid gland (disorder) SNOMEDCT_2005_07_31:363481002 neoplasm of parathyroid gland SNOMEDCT_2005_07_31:127020005 parathyroid neoplasm CSP2005:2009-6398 A head and neck cancer that has_material_basis_in epithelial cells and is located_in the upper aerodigestive tract, including the lip, oral cavity (mouth), nasal cavity, paranasal sinuses, pharynx, and larynx. NCI:C6077 UMLS_CUI:C1334927 carcinoma of the neck disease_ontology carcinoma of neck DOID:1542 head and neck carcinoma A head and neck cancer that has_material_basis_in epithelial cells and is located_in the upper aerodigestive tract, including the lip, oral cavity (mouth), nasal cavity, paranasal sinuses, pharynx, and larynx. url:http://en.wikipedia.org/wiki/Head_and_neck_cancer url:http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.09e&code=C35850&ns=NCI_Thesaurus&key=153772862&b=1&n=null url:http://www.cancer.gov/cancertopics/factsheet/Sites-Types/head-and-neck carcinoma of the neck NCI2004_11_17:C6077 metastatic tumor of Parathyroid disease_ontology DOID:1543 metastatic neoplasm of parathyroid true metastatic tumor of Parathyroid NCI2004_11_17:C7827 disease_ontology DOID:155 glandular and epithelial neoplasm true DOID:1549 Diabetes mellitus in the pueperium - baby delivered during previous episode of care (disorder) Diabetes mellitus, postpartum disease_ontology DOID:1550 gestational diabetes complicating pregnancy, childbirth, or the puerperium true Diabetes mellitus in the pueperium - baby delivered during previous episode of care (disorder) SNOMEDCT_2005_07_31:199228009 ICD10CM:L50.4 ICD9CM:708.4 SNOMEDCT_US_2016_03_01:51247001 UMLS_CUI:C0157743 disease_ontology DOID:1554 vibratory urticaria A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis. ICD9CM:708.8 SNOMEDCT_US_2016_03_01:201267004 SNOMEDCT_US_2016_03_01:201271001 SNOMEDCT_US_2016_03_01:267817001 UMLS_CUI:C0029839 disease_ontology DOID:1555 urticaria A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis. url:http://en.wikipedia.org/wiki/Urticaria ICD10CM:T78.41 ICD9CM:995.21 MESH:D001183 NCI:C34400 SNOMEDCT_US_2016_03_01:29548007 SNOMEDCT_US_2016_03_01:402413008 UMLS_CUI:C0003907 Arthus Phenomenon Arthus phenomenon Arthus reaction (function) Arthus type urticaria disease_ontology DOID:1556 arthus reaction Arthus Phenomenon NCI2004_11_17:C34400 Arthus phenomenon CSP2005:1524-9024 Arthus reaction (function) SNOMEDCT_2005_07_31:29548007 Arthus type urticaria SNOMEDCT_2005_07_31:402413008 MESH:D007105 UMLS_CUI:C0020951 immune complex disease disease_ontology DOID:1557 hypersensitivity reaction type III disease immune complex disease CSP2005:1560-5864 A skin disease characterized by the rapid swelling of the dermis, subcutaneous tissue, mucosa and submucosal tissues. CSP:2716-7007 ICD10CM:T78.3 MESH:D000799 NCI:C112175 SNOMEDCT_US_2016_03_01:157756002 SNOMEDCT_US_2016_03_01:269433002 SNOMEDCT_US_2016_03_01:400075008 SNOMEDCT_US_2016_03_01:41291007 SNOMEDCT_US_2016_03_01:82966003 UMLS_CUI:C0002994 Angioneurotic oedema Quincke's edema angioneurotic edema giant urticaria disease_ontology DOID:1558 angioedema A skin disease characterized by the rapid swelling of the dermis, subcutaneous tissue, mucosa and submucosal tissues. url:http://en.wikipedia.org/wiki/Angioedema Angioneurotic oedema SNOMEDCT_2005_07_31:269433002 Quincke's edema SNOMEDCT_2005_07_31:82966003 giant urticaria CSP2005:1849-1576 A disease of mental health that affects cognitive functions including memory processing, perception and problem solving. ICD10CM:F09 MESH:D019965 NCI:C34870 SNOMEDCT_US_2016_03_01:106014008 SNOMEDCT_US_2016_03_01:111479008 UMLS_CUI:C0029227 cognitive disease disease_ontology Organic Mental disorder DOID:1561 cognitive disorder A disease of mental health that affects cognitive functions including memory processing, perception and problem solving. url:http://en.wikipedia.org/wiki/Cognitive_disorder Organic Mental disorder NCI2004_11_17:C34870 A subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by Fonsecaea pedrosoi, Fonsecaea compacta, Cladophialophora carrionii or Phialophora verrucosa. Histological examination reveals muriform cells (with perpendicular septations) or thick walled, dark-colored, rounded forms (copper pennies) that are characteristic of this infection. ICD10CM:B43.9 ICD9CM:117.2 MESH:D002862 SNOMEDCT_US_2016_03_01:187079000 SNOMEDCT_US_2016_03_01:187082005 SNOMEDCT_US_2016_03_01:187490000 SNOMEDCT_US_2016_03_01:238441002 SNOMEDCT_US_2016_03_01:7255004 UMLS_CUI:C0008582 Chromomycosis Mossy foot disease (disorder) disease_ontology DOID:1562 chromoblastomycosis A subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by Fonsecaea pedrosoi, Fonsecaea compacta, Cladophialophora carrionii or Phialophora verrucosa. Histological examination reveals muriform cells (with perpendicular septations) or thick walled, dark-colored, rounded forms (copper pennies) that are characteristic of this infection. url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4005 Chromomycosis MTHICD9_2006:117.2 Mossy foot disease (disorder) SNOMEDCT_2005_07_31:252402000 A cutaneous mycosis that results_in fungal infection located_in skin or of its appendages, has_material_basis_in Ascomycota fungi other than the dermatophytes. ICD9CM:111 ICD9CM:111.9 MESH:D003881 SNOMEDCT_US_2016_03_01:14560005 SNOMEDCT_US_2016_03_01:186984003 SNOMEDCT_US_2016_03_01:187004009 SNOMEDCT_US_2016_03_01:47382004 UMLS_CUI:C0011630 disease_ontology DOID:1563 dermatomycosis A cutaneous mycosis that results_in fungal infection located_in skin or of its appendages, has_material_basis_in Ascomycota fungi other than the dermatophytes. url:http://www.doctorfungus.org/mycoses/human/other/skin_index.htm url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4004 A disease by infectious agent that results_in infection, has_material_basis_in Fungi, which pass the resistance barriers of the human or animal body. ICD10CM:B35-B49 ICD10CM:B49 ICD9CM:110-118.99 MESH:D009181 NCI:C3245 SNOMEDCT_US_2016_03_01:154393000 SNOMEDCT_US_2016_03_01:154394006 SNOMEDCT_US_2016_03_01:187110007 SNOMEDCT_US_2016_03_01:187472001 SNOMEDCT_US_2016_03_01:187498007 SNOMEDCT_US_2016_03_01:266214005 SNOMEDCT_US_2016_03_01:3218000 UMLS_CUI:C0026946 mycosis disease_ontology mycoses DOID:1564 fungal infectious disease A disease by infectious agent that results_in infection, has_material_basis_in Fungi, which pass the resistance barriers of the human or animal body. url:http://en.wikipedia.org/wiki/Mycoses DOID:1567 calculus of gallbladder and bile duct with acute and chronic cholecystitis, with obstruction disease_ontology DOID:1568 calculus of gallbladder and bile duct with acute and chronic cholecystitis true ICD9CM:374.12 SNOMEDCT_US_2016_03_01:45020000 UMLS_CUI:C0155194 disease_ontology DOID:1569 mechanical ectropion A carcinoma that derives_from the cells that line an organ. DOID:3806 epithelial skin tumor epithelial tumor (qualifier value) skin Epithelium tumor tumor of surface epithelium (disorder) disease_ontology epithelial neoplasm DOID:157 epithelial carcinoma true A carcinoma that derives_from the cells that line an organ. url:http://www.cancer.gov/dictionary/?CdrID=46422 epithelial tumor (qualifier value) SNOMEDCT_2005_07_31:134207000 skin Epithelium tumor NCI2004_11_17:C7342 tumor of surface epithelium (disorder) SNOMEDCT_2005_07_31:254649008 ICD10CM:H02.1 ICD10CM:H02.10 ICD10CM:H02.109 ICD9CM:374.1 ICD9CM:374.10 MESH:D004483 SNOMEDCT_US_2016_03_01:127559009 SNOMEDCT_US_2016_03_01:155178000 SNOMEDCT_US_2016_03_01:193934003 SNOMEDCT_US_2016_03_01:193935002 SNOMEDCT_US_2016_03_01:62909004 UMLS_CUI:C0013592 Ectropion of eyelid Everted margin disease_ontology DOID:1570 ectropion Ectropion of eyelid SNOMEDCT_2005_07_31:62909004 Everted margin SNOMEDCT_2005_07_31:127559009 ICD9CM:374.13 SNOMEDCT_US_2016_03_01:80846000 UMLS_CUI:C0155195 disease_ontology DOID:1571 spastic ectropion ICD10CM:G91.2 MESH:D006850 OMIM:236690 SNOMEDCT_US_2016_03_01:30753002 SNOMEDCT_US_2016_03_01:69663004 UMLS_CUI:C0020258 Low pressure hydrocephalus disease_ontology DOID:1572 OMIM mapping confirmed by DO. [SN]. normal pressure hydrocephalus Low pressure hydrocephalus SNOMEDCT_2005_07_31:69663004 ICD10CM:G91.0 ICD9CM:331.3 MESH:D006849 NCI:C34501 SNOMEDCT_US_2016_03_01:271569006 SNOMEDCT_US_2016_03_01:59013007 UMLS_CUI:C0009451 disease_ontology DOID:1573 communicating hydrocephalus A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences. ICD10CM:F10.1 ICD9CM:305.0 ICD9CM:305.00 MESH:D000437 MESH:D019973 NCI:C20701 SNOMEDCT_US_2016_03_01:15167005 SNOMEDCT_US_2016_03_01:304606004 UMLS_CUI:C0085762 Ethanol abuse disease_ontology DOID:1574 alcohol abuse A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences. url:http://en.wikipedia.org/wiki/Alcohol_abuse Ethanol abuse SNOMEDCT_2005_07_31:304606004 A hypersensitivity reaction type II disease that involves inflammation or pain in the muscles, joints, or fibrous tissue. disease_ontology DOID:1575 rheumatic disease A hypersensitivity reaction type II disease that involves inflammation or pain in the muscles, joints, or fibrous tissue. url:http://www.niams.nih.gov/Health_Info/Scleroderma/default.asp MESH:D045745 SNOMEDCT_US_2016_03_01:128459005 SNOMEDCT_US_2016_03_01:298285004 SNOMEDCT_US_2016_03_01:299276009 UMLS_CUI:C0748540 Limited cutaneous systemic sclerosis systemic sclerosis, limited disease_ontology DOID:1577 limited scleroderma Limited cutaneous systemic sclerosis SNOMEDCT_2005_07_31:298285004 systemic sclerosis, limited SNOMEDCT_2005_07_31:128459005 systemic sclerosis, limited SNOMEDCT_2005_07_31:299276009 ICD10CM:M34.81 ICD9CM:517.2 SNOMEDCT_US_2016_03_01:196133001 UMLS_CUI:C0339904 lung disease with systemic sclerosis lung disease with systemic sclerosis (disorder) lung involvement in systemic sclerosis disease_ontology DOID:1578 pulmonary systemic sclerosis lung disease with systemic sclerosis (disorder) SNOMEDCT_2005_07_31:196133001 lung involvement in systemic sclerosis ICD9CM_2006:517.2 A disease of anatomical entity that located_in the respiratory system which extends from the nasal sinuses to the diaphragm. DOID:3226 ICD10CM:J96-J99 ICD10CM:J98 ICD9CM:510-519.99 ICD9CM:519 SNOMEDCT_US_2016_03_01:155603009 SNOMEDCT_US_2016_03_01:196057004 SNOMEDCT_US_2016_03_01:196184000 SNOMEDCT_US_2016_03_01:196255004 SNOMEDCT_US_2016_03_01:266373008 UMLS_CUI:C0029582 disease_ontology DOID:1579 respiratory system disease A disease of anatomical entity that located_in the respiratory system which extends from the nasal sinuses to the diaphragm. url:http://en.wikipedia.org/wiki/File:Respiratory_system_complete_en.svg url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=respiratory%20system MESH:D045743 NCI:C116791 SNOMEDCT_US_2016_03_01:128460000 SNOMEDCT_US_2016_03_01:444133002 UMLS_CUI:C1258104 diffuse systemic sclerosis systemic sclerosis, diffuse (disorder) disease_ontology DOID:1580 diffuse scleroderma diffuse systemic sclerosis CSP2005:4008-0097 systemic sclerosis, diffuse (disorder) SNOMEDCT_2005_07_31:128460000 A pulmonary tuberculosis causing granulomatous leisons in the larynx resulting from an inflammation caused by mycobacteria leading to hoarseness, dysphagia and odynophagia. ICD10CM:A15.5 ICD9CM:012.3 MESH:D014387 NCI:C26895 SNOMEDCT_US_2016_03_01:70341005 UMLS_CUI:C0041315 disease_ontology DOID:1583 laryngeal tuberculosis A pulmonary tuberculosis causing granulomatous leisons in the larynx resulting from an inflammation caused by mycobacteria leading to hoarseness, dysphagia and odynophagia. url:http://www.cdc.gov/mmwr/PDF/rr/rr5417.pdf url:http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=16749607 url:http://www.springerlink.com/content/58281g77v7054641/fulltext.pdf A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph. ICD9CM:517.3 MESH:D056586 SNOMEDCT_US_2016_03_01:372146004 UMLS_CUI:C0742343 acute chest syndrome in sickle cell disease disease_ontology DOID:1584 acute chest syndrome A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph. url:http://en.wikipedia.org/wiki/Acute_chest_syndrome url:http://www.rcjournal.com/contents/03.04/03.04.0263.pdf acute chest syndrome in sickle cell disease SNOMEDCT_2005_07_31:372146004 Rheumatic pneumonia (disorder) disease_ontology DOID:1585 rheumatic pneumonia true Rheumatic pneumonia (disorder) SNOMEDCT_2005_07_31:7548000 DOID:1006 DOID:1007 ICD10CM:I00 ICD10CM:I00-I02 ICD9CM:390 ICD9CM:390-392.99 MESH:D012213 NCI:C34984 SNOMEDCT_US_2016_03_01:155264006 SNOMEDCT_US_2016_03_01:155265007 SNOMEDCT_US_2016_03_01:155274009 SNOMEDCT_US_2016_03_01:194718003 SNOMEDCT_US_2016_03_01:195528001 SNOMEDCT_US_2016_03_01:24363009 SNOMEDCT_US_2016_03_01:26424001 SNOMEDCT_US_2016_03_01:266276003 SNOMEDCT_US_2016_03_01:274095001 SNOMEDCT_US_2016_03_01:58718002 SNOMEDCT_US_2016_03_01:81077008 UMLS_CUI:C0035436 UMLS_CUI:C0264743 ACUTE RHEUMATIC FEVER RhF - Rheumatic fever disease_ontology DOID:1586 rheumatic fever ACUTE RHEUMATIC FEVER ICD9CM_2006:390-392.99 RhF - Rheumatic fever SNOMEDCT_2005_07_31:274095001 NCI:C3991 SNOMEDCT_US_2016_03_01:2897005 UMLS_CUI:C0272286 Auto-immune thrombocytopenia Immune thrombocytopenia (disorder) Thrombocytopenia Due to Immune Destruction disease_ontology DOID:1587 thrombocytopenia due to platelet alloimmunization Auto-immune thrombocytopenia SNOMEDCT_2005_07_31:142969008 Auto-immune thrombocytopenia SNOMEDCT_2005_07_31:165556002 Immune thrombocytopenia (disorder) SNOMEDCT_2005_07_31:2897005 Thrombocytopenia Due to Immune Destruction NCI2004_11_17:C3991 A blood platelet disease characterized by low a platelet count in the blood. ICD10CM:D69.6 ICD9CM:287.5 MESH:D013921 NCI:C3408 OMIM:188000 OMIM:273900 OMIM:300367 OMIM:313900 OMIM:612004 ORDO:852 SNOMEDCT_US_2016_03_01:142969008 SNOMEDCT_US_2016_03_01:154827000 SNOMEDCT_US_2016_03_01:165556002 SNOMEDCT_US_2016_03_01:191326009 SNOMEDCT_US_2016_03_01:302215000 SNOMEDCT_US_2016_03_01:415116008 SNOMEDCT_US_2016_03_01:70786006 UMLS_CUI:C0040034 disease_ontology DOID:1588 Xref MGI. thrombocytopenia A blood platelet disease characterized by low a platelet count in the blood. url:http://en.wikipedia.org/wiki/Thrombocytopenia url:http://ghr.nlm.nih.gov/glossary=thrombocytopenia url:http://www.merckmanuals.com/professional/hematology_and_oncology/thrombocytopenia_and_platelet_dysfunction/overview_of_platelet_disorders.html Mesothelial neoplasm (morphologic abnormality) Mesothelial neoplasm NOS (morphologic abnormality) Mesothelial tumor Mesothelial tumor morphology (qualifier value) disease_ontology DOID:159 mesothelial neoplasm true Mesothelial neoplasm (morphologic abnormality) SNOMEDCT_2005_07_31:115232000 Mesothelial neoplasm (morphologic abnormality) SNOMEDCT_2005_07_31:189832006 Mesothelial neoplasm NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189838005 Mesothelial tumor NCI2004_11_17:C3786 Mesothelial tumor morphology (qualifier value) SNOMEDCT_2005_07_31:134332001 ICD10CM:I15.0 MESH:D006978 NCI:C85044 SNOMEDCT_US_2016_03_01:123799005 SNOMEDCT_US_2016_03_01:194790006 UMLS_CUI:C0020545 Renovascular hypertension (disorder) disease_ontology DOID:1591 renovascular hypertension Renovascular hypertension (disorder) SNOMEDCT_2005_07_31:123799005 secondary malignant neoplasm of retroperitoneum and peritoneum (disorder) secondary malignant neoplasm of retroperitoneum or peritoneum NOS (disorder) disease_ontology DOID:1592 secondary malignant neoplasm of retroperitoneum and peritoneum true secondary malignant neoplasm of retroperitoneum and peritoneum (disorder) SNOMEDCT_2005_07_31:188445006 secondary malignant neoplasm of retroperitoneum or peritoneum NOS (disorder) SNOMEDCT_2005_07_31:188447003 metastatic neoplasm to the Peritoneum secondary malignant neoplasm of the peritoneum (disorder) disease_ontology DOID:1593 metastasis to the peritoneum true metastatic neoplasm to the Peritoneum NCI2004_11_17:C4583 secondary malignant neoplasm of the peritoneum (disorder) SNOMEDCT_2005_07_31:94627008 A mental depression that is characterized by a dysregulation of the endogenous opioid system and not of the monaminergic system. DOID:6340 EFO:0003761 MESH:D003866 NCI:C34532 NCI:C35094 OMIM:608516 SNOMEDCT_US_2016_03_01:154873003 SNOMEDCT_US_2016_03_01:191599006 SNOMEDCT_US_2016_03_01:231498003 SNOMEDCT_US_2016_03_01:300706003 UMLS_CUI:C0011573 UMLS_CUI:C0041696 clinical depression unipolar depression disease_ontology DOID:1595 OMIM mapping confirmed by DO. [LS]. endogenous depression A mental depression that is characterized by a dysregulation of the endogenous opioid system and not of the monaminergic system. url:http://en.wikipedia.org/wiki/Endogenous_depression clinical depression CSP2005:2483-6681 DOID:14672 ICD10CM:F32.9 ICD10CM:F33.9 MESH:D003863 NCI:C2982 SNOMEDCT_US_2016_03_01:154963001 SNOMEDCT_US_2016_03_01:192372006 SNOMEDCT_US_2016_03_01:307537002 SNOMEDCT_US_2016_03_01:41006004 UMLS_CUI:C0011570 disease_ontology DOID:1596 mental depression Major depressive disorder, single episode, mild degree Mild major depression, single episode (disorder) Single major depressive episode, mild (disorder) disease_ontology DOID:1597 single episode mild major depression true Major depressive disorder, single episode, mild degree ICD9CM_2006:296.21 Mild major depression, single episode (disorder) SNOMEDCT_2005_07_31:79298009 Single major depressive episode, mild (disorder) SNOMEDCT_2005_07_31:191601008 Major depressive disorder, single episode, moderate degree Moderate major depression, single episode (disorder) Single major depressive episode, moderate (disorder) disease_ontology DOID:1599 single episode moderate major depression true Major depressive disorder, single episode, moderate degree ICD9CM_2006:296.22 Moderate major depression, single episode (disorder) SNOMEDCT_2005_07_31:15639000 Single major depressive episode, moderate (disorder) SNOMEDCT_2005_07_31:191602001 A disease of anatomical entity that is located_in the integumentary system comprising the skin and its appendages. disease_ontology DOID:16 integumentary system disease A disease of anatomical entity that is located_in the integumentary system comprising the skin and its appendages. url:http://en.wikipedia.org/wiki/Integumentary_system DOID:1600 DOID:9941 ICD10CM:I88.1 ICD10CM:I88.9 ICD10CM:L04 ICD10CM:L04.9 ICD9CM:289.1 ICD9CM:683 MESH:D008199 NCI:C26821 NCI:C26966 NCI:C26978 SNOMEDCT_US_2016_03_01:154836001 SNOMEDCT_US_2016_03_01:154838000 SNOMEDCT_US_2016_03_01:156318008 SNOMEDCT_US_2016_03_01:19471005 SNOMEDCT_US_2016_03_01:200696002 SNOMEDCT_US_2016_03_01:274737001 SNOMEDCT_US_2016_03_01:287688007 SNOMEDCT_US_2016_03_01:32035007 SNOMEDCT_US_2016_03_01:41174002 UMLS_CUI:C0024205 UMLS_CUI:C0154304 UMLS_CUI:C0157705 Adenitis Inflammation of lymph node acute adenitis acute lymphadenitis chronic Lymphadenitis chronic adenitis disease_ontology DOID:1602 lymphadenitis Adenitis NCI2004_11_17:C26821 Inflammation of lymph node SNOMEDCT_2005_07_31:274737001 acute lymphadenitis ICD9CM_2006:683 SNOMEDCT_2005_07_31:156318008 chronic Lymphadenitis NCI2004_11_17:C26966 ICD10CM:E15 ICD9CM:251.0 SNOMEDCT_US_2016_03_01:154692004 SNOMEDCT_US_2016_03_01:190428000 SNOMEDCT_US_2016_03_01:190430003 SNOMEDCT_US_2016_03_01:267384006 SNOMEDCT_US_2016_03_01:267476006 SNOMEDCT_US_2016_03_01:71898001 UMLS_CUI:C0020617 disease_ontology DOID:1607 hypoglycemic coma A skin disease characterized_by growth of keratin on the skin or mucous membranes. MESH:D007642 NCI:C34747 SNOMEDCT_US_2016_03_01:254666005 UMLS_CUI:C0022593 disease_ontology DOID:161 keratosis A skin disease characterized_by growth of keratin on the skin or mucous membranes. url:https://en.wikipedia.org/wiki/Keratosis A thoracic cancer that originates in the mammary gland. DOID:1648 DOID:4241 ICD10CM:C50 ICD10CM:C50-C50 ICD9CM:174.8 MESH:D001943 NCI:C2910 NCI:C9335 OMIM:114480 OMIM:600048 OMIM:605365 SNOMEDCT_US_2016_03_01:126926005 SNOMEDCT_US_2016_03_01:154521006 SNOMEDCT_US_2016_03_01:190121004 SNOMEDCT_US_2016_03_01:254837009 SNOMEDCT_US_2016_03_01:269595005 UMLS_CUI:C0006142 UMLS_CUI:C0153555 UMLS_CUI:C1458155 breast tumor malignant neoplasm of breast malignant tumor of the breast mammary cancer mammary tumor primary breast cancer disease_ontology mammary neoplasm DOID:1612 Xref MGI. OMIM mapping confirmed by DO. [SN]. breast cancer A thoracic cancer that originates in the mammary gland. url:http://en.wikipedia.org/wiki/Breast_cancer url:http://en.wikipedia.org/wiki/Mammary url:http://www.cancer.gov/cancertopics/types/breast url:http://www.nlm.nih.gov/medlineplus/breastcancer.html breast tumor NCI2004_11_17:C2910 malignant tumor of the breast NCI2004_11_17:C9335 mammary tumor CSP2005:2016-0671 DOID:9796 ICD9CM:175.9 MESH:D018567 SNOMEDCT_US_2016_03_01:126937006 UMLS_CUI:C0153559 UMLS_CUI:C0242788 malignant neoplasm of male breast neoplasm of male breast (disorder) disease_ontology DOID:1614 male breast cancer neoplasm of male breast (disorder) SNOMEDCT_2005_07_31:126937006 NCI:C5193 UMLS_CUI:C1332492 benign Eccrine breast Spiradenoma disease_ontology DOID:1616 benign eccrine breast spiradenoma benign Eccrine breast Spiradenoma NCI2004_11_17:C5193 A breast benign neoplasm comprised of fibrous and glandoular tissues located_in breast. DOID:2684 DOID:2693 DOID:7226 ICD10CM:D24 MESH:D018226 NCI:C3744 NCI:C4276 NCI:C5194 SNOMEDCT_US_2016_03_01:189102001 SNOMEDCT_US_2016_03_01:189820007 SNOMEDCT_US_2016_03_01:254845004 SNOMEDCT_US_2016_03_01:254847007 SNOMEDCT_US_2016_03_01:269640007 SNOMEDCT_US_2016_03_01:46212000 SNOMEDCT_US_2016_03_01:65877006 UMLS_CUI:C0178421 UMLS_CUI:C0206650 UMLS_CUI:C0346158 UMLS_CUI:C1333137 Complex Fibroadenoma of breast Fibroadenoma Fibroadenoma of breast (disorder) Juvenile fibroadenoma (morphologic abnormality) cellular Fibroadenoma fibroadenoma juvenile fibroadenoma of breast disease_ontology DOID:1618 breast fibroadenoma A breast benign neoplasm comprised of fibrous and glandoular tissues located_in breast. url:http://en.wikipedia.org/wiki/Fibroadenoma url:http://www.nlm.nih.gov/medlineplus/ency/article/007216.htm Complex Fibroadenoma of breast NCI2004_11_17:C5194 Fibroadenoma NCI2004_11_17:C3744 Fibroadenoma of breast (disorder) SNOMEDCT_2005_07_31:254845004 Juvenile fibroadenoma (morphologic abnormality) SNOMEDCT_2005_07_31:46212000 cellular Fibroadenoma NCI2004_11_17:C4276 A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis. ICD10CM:C80 ICD10CM:C80.1 ICD9CM:199 MESH:D009369 NCI:C9305 SNOMEDCT_US_2016_03_01:154432008 SNOMEDCT_US_2016_03_01:154433003 SNOMEDCT_US_2016_03_01:154577008 SNOMEDCT_US_2016_03_01:187597000 SNOMEDCT_US_2016_03_01:188475001 SNOMEDCT_US_2016_03_01:188482002 SNOMEDCT_US_2016_03_01:190150006 SNOMEDCT_US_2016_03_01:269513004 SNOMEDCT_US_2016_03_01:269623003 SNOMEDCT_US_2016_03_01:269626006 SNOMEDCT_US_2016_03_01:269634000 SNOMEDCT_US_2016_03_01:363346000 SNOMEDCT_US_2016_03_01:38807002 UMLS_CUI:C0006826 malignant neoplasm malignant tumor primary cancer disease_ontology DOID:162 Updating out dated UMLS CUI. cancer A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis. stedman:rlc url:http://en.wikipedia.org/wiki/cancer url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=cancer disease_ontology DOID:1620 breast fibroepithelial tumor true NCI:C40399 UMLS_CUI:C1511317 disease_ontology DOID:1623 breast leiomyoma disease_ontology DOID:1624 breast soft tissue tumor true NCI:C40382 SNOMEDCT_US_2016_03_01:269640007 UMLS_CUI:C1328385 Ademoma - breast disease_ontology DOID:1625 breast adenoma Ademoma - breast SNOMEDCT_2005_07_31:269640007 NCI:C3863 SNOMEDCT_US_2016_03_01:254848002 UMLS_CUI:C0238034 duct papilloma of breast (disorder) papilloma of the breast disease_ontology DOID:1626 breast duct papilloma duct papilloma of breast (disorder) SNOMEDCT_2005_07_31:254848002 papilloma of the breast NCI2004_11_17:C3863 MESH:D018300 NCI:C3785 SNOMEDCT_US_2016_03_01:5244003 UMLS_CUI:C0206713 Intraductal papilloma (morphologic abnormality) ductal papilloma disease_ontology DOID:1627 intraductal papilloma Intraductal papilloma (morphologic abnormality) SNOMEDCT_2005_07_31:5244003 ductal papilloma NCI2004_11_17:C3785 NCI:C36090 UMLS_CUI:C1334252 disease_ontology DOID:1628 intraductal papillary breast neoplasm NCI:C40397 UMLS_CUI:C1511320 disease_ontology DOID:1629 breast myofibroblastoma Mucoepidermoid neoplasm (morphologic abnormality) Mucoepidermoid neoplasm (morphology) Mucoepidermoid neoplasm NOS (morphologic abnormality) Mucoepidermoid tumor [obs] disease_ontology DOID:163 mucoepidermoid tumor true Mucoepidermoid neoplasm (morphologic abnormality) SNOMEDCT_2005_07_31:189676001 Mucoepidermoid neoplasm (morphology) SNOMEDCT_2005_07_31:127571003 Mucoepidermoid neoplasm NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189677005 Mucoepidermoid tumor [obs] SNOMEDCT_2005_07_31:39892006 DOID:1633 DOID:2608 ICD10CM:D48.6 MESH:D003557 NCI:C2977 NCI:C4274 NCI:C5196 SNOMEDCT_US_2016_03_01:154641007 SNOMEDCT_US_2016_03_01:16566002 SNOMEDCT_US_2016_03_01:189505009 SNOMEDCT_US_2016_03_01:189825002 SNOMEDCT_US_2016_03_01:269651007 SNOMEDCT_US_2016_03_01:71232009 UMLS_CUI:C0010701 UMLS_CUI:C0334501 UMLS_CUI:C1332533 Cystosarcoma phyllodes Cystosarcoma phyllodes NOS (morphologic abnormality) Cystosarcoma phyllodes, NOS Phyllodes neoplasm Phyllodes tumor, benign (morphologic abnormality) benign Phyllodes neoplasm benign Phyllodes neoplasm of the breast benign cystosarcoma phyllodes disease_ontology DOID:1631 benign breast phyllodes tumor Cystosarcoma phyllodes SNOMEDCT_2005_07_31:154641007 SNOMEDCT_2005_07_31:189505009 SNOMEDCT_2005_07_31:269651007 Cystosarcoma phyllodes NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189825002 Cystosarcoma phyllodes, NOS SNOMEDCT_2005_07_31:71232009 Phyllodes neoplasm NCI2004_11_17:C2977 Phyllodes tumor, benign (morphologic abnormality) SNOMEDCT_2005_07_31:16566002 benign Phyllodes neoplasm NCI2004_11_17:C4274 benign Phyllodes neoplasm of the breast NCI2004_11_17:C5196 NCI:C6977 UMLS_CUI:C1332636 papillomatosis of the breast disease_ontology DOID:1634 breast papillomatosis papillomatosis of the breast NCI2004_11_17:C6977 NCI:C40381 UMLS_CUI:C1511284 disease_ontology DOID:1637 breast angiomatosis An extrapulmonary tuberculosis that results in formation of tuberculomas located_in brain or located_in spinal cord. DOID:0050121 DOID:0050122 DOID:10094 DOID:1640 ICD9CM:013.2 ICD9CM:013.20 MESH:D016862 SNOMEDCT_US_2016_03_01:40769007 SNOMEDCT_US_2016_03_01:416265003 UMLS_CUI:C0085388 Tuberculosis of meninges and central nervous system (disorder) intracranial tuberculoma tuberculoma of brain tuberculosis of meninges and central nervous system tuberculous abscess of brain disease_ontology DOID:1638 central nervous system tuberculosis An extrapulmonary tuberculosis that results in formation of tuberculomas located_in brain or located_in spinal cord. url:http://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf Tuberculosis of meninges and central nervous system (disorder) SNOMEDCT_2005_07_31:186213005 An extrapulmonary tuberculosis that results in formation of lesions located_in bone. ICD10CM:A18.0 ICD9CM:015 ICD9CM:015.9 MESH:D014394 SNOMEDCT_US_2016_03_01:154287006 SNOMEDCT_US_2016_03_01:17653001 SNOMEDCT_US_2016_03_01:186229002 SNOMEDCT_US_2016_03_01:186234003 SNOMEDCT_US_2016_03_01:266084009 UMLS_CUI:C0041324 osteoarticular tuberculosis disease_ontology DOID:1639 skeletal tuberculosis An extrapulmonary tuberculosis that results in formation of lesions located_in bone. url:http://en.wikipedia.org/wiki/Bone_Tuberculosis cystic, mucinous and serous neoplasm (morphologic abnormality) cystic, mucinous and serous tumor (qualifier value) disease_ontology DOID:164 cystic, mucinous, and serous neoplasm true cystic, mucinous and serous neoplasm (morphologic abnormality) SNOMEDCT_2005_07_31:189678000 cystic, mucinous and serous tumor (qualifier value) SNOMEDCT_2005_07_31:134320000 NCI:C5144 UMLS_CUI:C1332477 benign Adenomyoepithelioma of the breast disease_ontology DOID:1641 benign breast adenomyoepithelioma benign Adenomyoepithelioma of the breast NCI2004_11_17:C5144 A breast myoepithelial neoplasm that affects the breast and is characterized by biphasic proliferation of both epithelial and myoepithelial cells. DOID:6640 NCI:C5143 NCI:C6899 UMLS_CUI:C1334564 UMLS_CUI:C1510795 breast Adenomyoepithelioma with malignant Change malignant adenomyoepithelioma of breast disease_ontology adenomyoepithelioma of the breast DOID:1642 breast adenomyoepithelioma A breast myoepithelial neoplasm that affects the breast and is characterized by biphasic proliferation of both epithelial and myoepithelial cells. url:http://www.ajronline.org/cgi/content/full/180/3/799 breast Adenomyoepithelioma with malignant Change NCI2004_11_17:C5143 ICD9CM:174.2 SNOMEDCT_US_2016_03_01:188152004 UMLS_CUI:C0153550 malignant neoplasm of upper-inner quadrant of female breast (disorder) disease_ontology DOID:1647 female breast upper-inner quadrant cancer malignant neoplasm of upper-inner quadrant of female breast (disorder) SNOMEDCT_2005_07_31:188152004 ICD10CM:C50.31 ICD9CM:174.3 SNOMEDCT_US_2016_03_01:188153009 UMLS_CUI:C0153551 malignant neoplasm of lower-inner quadrant of female breast (disorder) disease_ontology DOID:1649 female breast lower-inner quadrant cancer malignant neoplasm of lower-inner quadrant of female breast (disorder) SNOMEDCT_2005_07_31:188153009 ICD10CM:C50.61 ICD9CM:174.6 SNOMEDCT_US_2016_03_01:188156001 SNOMEDCT_US_2016_03_01:93685009 UMLS_CUI:C0153554 malignant neoplasm of axillary tail of female breast (disorder) disease_ontology DOID:1650 female breast axillary tail cancer malignant neoplasm of axillary tail of female breast (disorder) SNOMEDCT_2005_07_31:188156001 A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles. ICD10CM:Q21.0 ICD9CM:745.4 MESH:D006345 NCI:C84506 OMIM:614429 OMIM:614431 OMIM:614432 ORDO:1480 SNOMEDCT_US_2016_03_01:156914003 SNOMEDCT_US_2016_03_01:204309000 SNOMEDCT_US_2016_03_01:204310005 SNOMEDCT_US_2016_03_01:204314001 SNOMEDCT_US_2016_03_01:253549006 SNOMEDCT_US_2016_03_01:270547008 SNOMEDCT_US_2016_03_01:30288003 UMLS_CUI:C0018818 Interventricular septal defect Ventricular septal abnormality disease_ontology DOID:1657 Xref MGI. ventricular septal defect A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles. url:http://en.wikipedia.org/wiki/Ventricular_septal_defect url:http://www.merckmanuals.com/professional/pediatrics/congenital_cardiovascular_anomalies/ventricular_septal_defect_vsd.html Interventricular septal defect MTHICD9_2006:745.4 Ventricular septal abnormality SNOMEDCT_2005_07_31:253549006 A brain cancer that is located_in the supratentorial region. DOID:1658 ICD10CM:C71.0 MESH:D015173 NCI:C3397 NCI:C4964 UMLS_CUI:C0038874 UMLS_CUI:C0751589 Brain neoplasm, Supratentorial malignant Supratentorial tumor disease_ontology DOID:1659 supratentorial cancer A brain cancer that is located_in the supratentorial region. url:http://en.wikipedia.org/wiki/Tentorium_cerebelli Brain neoplasm, Supratentorial NCI2004_11_17:C3397 malignant Supratentorial tumor NCI2004_11_17:C4964 MESH:D017600 NCI:C3717 SNOMEDCT_US_2016_03_01:1513001 SNOMEDCT_US_2016_03_01:253076000 SNOMEDCT_US_2016_03_01:404042005 UMLS_CUI:C0206094 Infantile Melanotic neuroectodermal neoplasm Melanotic neuroectodermal tumor (morphologic abnormality) Melanotic neuroectodermal tumor of infancy (morphologic abnormality) Pigmented neuroectodermal tumour of infancy disease_ontology DOID:166 melanotic neuroectodermal tumor Infantile Melanotic neuroectodermal neoplasm NCI2004_11_17:C3717 Melanotic neuroectodermal tumor (morphologic abnormality) SNOMEDCT_2005_07_31:1513001 Melanotic neuroectodermal tumor of infancy (morphologic abnormality) SNOMEDCT_2005_07_31:253076000 Pigmented neuroectodermal tumour of infancy SNOMEDCT_2005_07_31:404042005 DOID:1663 NCI:C4659 NCI:C6767 SNOMEDCT_US_2016_03_01:277508009 UMLS_CUI:C0349621 UMLS_CUI:C1334612 Pineal Region germ cell tumor Pineal germ cell tumor (disorder) malignant Pineal Parenchymal germ cell tumor pineal germ cell tumor disease_ontology DOID:1660 malignant pineal area germ cell neoplasm Pineal Region germ cell tumor NCI2004_11_17:C4659 Pineal germ cell tumor (disorder) SNOMEDCT_2005_07_31:277508009 malignant Pineal Parenchymal germ cell tumor NCI2004_11_17:C6767 disease_ontology DOID:1661 malignant intracranial germ cell neoplasm true A pineal gland neoplasm located_in the brain. MESH:D010871 NCI:C9344 SNOMEDCT_US_2016_03_01:31671006 UMLS_CUI:C0205898 Pineal PNET disease_ontology DOID:1664 pineoblastoma A pineal gland neoplasm located_in the brain. url:http://en.wikipedia.org/wiki/Pinealoblastoma url:http://www.answers.com/topic/pineoblastoma Pineal PNET NCI2004_11_17:C9344 An embryonal cancer that are masses of rapidly growing cells that originates in embryonic (fetal) tissue in the brain and spinal cord. embryonal tumor of the CNS disease_ontology embryonal neoplasm of CNS DOID:1665 central nervous system embryonal cancer true An embryonal cancer that are masses of rapidly growing cells that originates in embryonic (fetal) tissue in the brain and spinal cord. url:http://www.cancer.gov/cancertopics/childCNSembryonal embryonal tumor of the CNS NCI2004_11_17:C6990 Enthesopathy of hip region Enthesopathy of hip region (disorder) Enthesopathy of the hip region Enthesopathy of the hip region (disorder) Hip enthesopathy NOS (disorder) Hip enthesopathy, unspecified (disorder) disease_ontology DOID:1666 hip enthesopathy true Enthesopathy of hip region ICD9CM_2006:726.5 Enthesopathy of hip region (disorder) SNOMEDCT_2005_07_31:30936004 Enthesopathy of the hip region SNOMEDCT_2005_07_31:156661004 Enthesopathy of the hip region (disorder) SNOMEDCT_2005_07_31:202861009 Hip enthesopathy NOS (disorder) SNOMEDCT_2005_07_31:202866004 Hip enthesopathy, unspecified (disorder) SNOMEDCT_2005_07_31:202862002 disease_ontology DOID:1667 peripheral enthesopathy true DOID:12407 DOID:12810 DOID:12982 DOID:1669 DOID:1671 DOID:7354 DOID:8473 DOID:8522 ICD9CM:711.2 ICD9CM:711.20 NCI:C35225 SNOMEDCT_US_2016_03_01:201484007 SNOMEDCT_US_2016_03_01:201494002 SNOMEDCT_US_2016_03_01:267884002 SNOMEDCT_US_2016_03_01:62918002 UMLS_CUI:C0157770 Arthropathy in Behcet's syndrome involving ankle and foot Arthropathy in Behcet's syndrome involving forearm Arthropathy in Behcet's syndrome involving hand Arthropathy in Behcet's syndrome involving lower leg Arthropathy in Behcet's syndrome involving multiple sites Arthropathy in Behcet's syndrome involving pelvic region and thigh Arthropathy in Behcet's syndrome involving shoulder region Arthropathy in Behcet's syndrome involving upper arm Behcet syndrome arthropathy disease_ontology DOID:1670 Behcet's syndrome arthropathy ICD10CM:J93.0 ICD9CM:512.0 SNOMEDCT_US_2016_03_01:196102003 SNOMEDCT_US_2016_03_01:76537003 UMLS_CUI:C0155907 disease_ontology DOID:1672 spontaneous tension pneumothorax ICD10CM:J93.1 SNOMEDCT_US_2016_03_01:196103008 SNOMEDCT_US_2016_03_01:196105001 SNOMEDCT_US_2016_03_01:196251008 SNOMEDCT_US_2016_03_01:266367007 UMLS_CUI:C0029850 disease_ontology DOID:1673 pneumothorax DOID:1676 DOID:2167 ICD10CM:O44.0 ICD9CM:641.0 SNOMEDCT_US_2016_03_01:156099007 SNOMEDCT_US_2016_03_01:198897009 SNOMEDCT_US_2016_03_01:198898004 SNOMEDCT_US_2016_03_01:198902005 SNOMEDCT_US_2016_03_01:7792000 UMLS_CUI:C0156617 disease_ontology DOID:1677 low implantation of placenta ICD10CM:N30.1 ICD9CM:595.1 MESH:D018856 SNOMEDCT_US_2016_03_01:197834003 SNOMEDCT_US_2016_03_01:197838000 SNOMEDCT_US_2016_03_01:44497007 UMLS_CUI:C0600040 disease_ontology DOID:1678 chronic interstitial cystitis ICD10CM:N30 ICD10CM:N30.9 ICD9CM:595 ICD9CM:595.9 MESH:D003556 NCI:C26738 SNOMEDCT_US_2016_03_01:155882000 SNOMEDCT_US_2016_03_01:155885003 SNOMEDCT_US_2016_03_01:197857009 SNOMEDCT_US_2016_03_01:266629000 SNOMEDCT_US_2016_03_01:38822007 UMLS_CUI:C0010692 disease_ontology DOID:1679 cystitis ICD10CM:N30.2 ICD9CM:595.2 SNOMEDCT_US_2016_03_01:197839008 SNOMEDCT_US_2016_03_01:197842002 SNOMEDCT_US_2016_03_01:198536006 UMLS_CUI:C0156268 disease_ontology DOID:1680 chronic cystitis ICD10CM:Q21 ICD10CM:Q21.9 MESH:D006343 NCI:C84482 SNOMEDCT_US_2016_03_01:156916001 SNOMEDCT_US_2016_03_01:204290008 SNOMEDCT_US_2016_03_01:253273004 SNOMEDCT_US_2016_03_01:287081002 SNOMEDCT_US_2016_03_01:396351009 SNOMEDCT_US_2016_03_01:59494005 SNOMEDCT_US_2016_03_01:8352002 UMLS_CUI:C0018816 Cardiac septal defects Cardiac septal defects (disorder) Congenital septal defect of heart (disorder) Septal defect NOS Septal defect NOS (disorder) septal defect disease_ontology DOID:1681 heart septal defect Cardiac septal defects SNOMEDCT_2005_07_31:204290008 Cardiac septal defects (disorder) SNOMEDCT_2005_07_31:253273004 Congenital septal defect of heart (disorder) SNOMEDCT_2005_07_31:59494005 Septal defect NOS MTHICD9_2006:745.9 Septal defect NOS SNOMEDCT_2005_07_31:156916001 Septal defect NOS (disorder) SNOMEDCT_2005_07_31:287081002 septal defect CSP2005:0725-0467 ICD10CM:Q24.9 ICD9CM:746.9 MESH:D006330 NCI:C34666 SNOMEDCT_US_2016_03_01:13213009 SNOMEDCT_US_2016_03_01:156911006 SNOMEDCT_US_2016_03_01:156926008 SNOMEDCT_US_2016_03_01:204405005 SNOMEDCT_US_2016_03_01:204413006 SNOMEDCT_US_2016_03_01:268315002 SNOMEDCT_US_2016_03_01:268318000 UMLS_CUI:C0018798 Congenital Heart Defects Congenital anomaly of heart Heart Malformation congenital heart defect heart defect disease_ontology Heart-congenital defect DOID:1682 OMIM mapping confirmed by DO. [SN]. congenital heart disease Congenital Heart Defects MTH:NOCODE Congenital anomaly of heart SNOMEDCT_2005_07_31:13213009 Heart Malformation NCI2004_11_17:C34666 heart defect CSP2005:0724-8315 Heart-congenital defect SNOMEDCT_2005_07_31:156911006 disease_ontology DOID:1685 glaucoma associated with vascular disorder true An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function. EFO:0000516 ICD10CM:H40 ICD10CM:H40-H42 ICD10CM:H40.9 ICD9CM:365 ICD9CM:365.9 MESH:D005901 NCI:C26782 SNOMEDCT_US_2016_03_01:155120009 SNOMEDCT_US_2016_03_01:193569008 SNOMEDCT_US_2016_03_01:194631001 SNOMEDCT_US_2016_03_01:23986001 UMLS_CUI:C0017601 disease_ontology DOID:1686 glaucoma An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function. url:https://en.wikipedia.org/wiki/Glaucoma url:https://www.aao.org/eye-health/diseases/what-is-glaucoma MESH:D015355 SNOMEDCT_US_2016_03_01:193564003 SNOMEDCT_US_2016_03_01:232086000 SNOMEDCT_US_2016_03_01:314785001 UMLS_CUI:C0017609 secondary angle-closure glaucoma with rubeosis disease_ontology DOID:1687 neovascular glaucoma secondary angle-closure glaucoma with rubeosis SNOMEDCT_2005_07_31:314785001 An endocrine gland cancer that has_material_basis_in neuroendocrine cells. ICD10CM:D3A.8 ICD9CM:209 ICD9CM:209-209.99 MESH:D018358 NCI:C3809 SNOMEDCT_US_2016_03_01:128928004 SNOMEDCT_US_2016_03_01:255046005 UMLS_CUI:C0206754 neuroendocrine neoplasm disease_ontology DOID:169 neuroendocrine tumor An endocrine gland cancer that has_material_basis_in neuroendocrine cells. url:http://en.wikipedia.org/wiki/Neuroendocrine_cell url:http://en.wikipedia.org/wiki/Neuroendocrine_tumor url:http://www.cancer.gov/dictionary?CdrID=44904 neuroendocrine neoplasm SNOMEDCT_2005_07_31:128928004 (Congenital ichthyosiform erythroderma) or (alligator skin) or (ichthyosis congenita NOS) Congenital ichthyosis of skin (disorder) Congenital ichthyosis, unspecified (disorder) Ichthyosis congenita Ichthyosis congenita NOS (disorder) ichthyosis congenita disease_ontology DOID:1695 congenital ichthyosis true (Congenital ichthyosiform erythroderma) or (alligator skin) or (ichthyosis congenita NOS) SNOMEDCT_2005_07_31:205556009 Congenital ichthyosis of skin (disorder) SNOMEDCT_2005_07_31:13059002 Congenital ichthyosis, unspecified (disorder) SNOMEDCT_2005_07_31:205547001 Ichthyosis congenita ICD9CM_2006:757.1 Ichthyosis congenita SNOMEDCT_2005_07_31:157017000 Ichthyosis congenita SNOMEDCT_2005_07_31:268355000 Ichthyosis congenita NOS (disorder) SNOMEDCT_2005_07_31:268283000 ichthyosis congenita CSP2005:0726-9470 A skin disease characterized by drying and scaling of skin with the accumulation of thick scales and cracks that may be painful or bleed. MESH:D007057 ORDO:79354 ichthyoses non-syndromic ichthyosis disease_ontology DOID:1697 ichthyosis A skin disease characterized by drying and scaling of skin with the accumulation of thick scales and cracks that may be painful or bleed. url:http://purl.obolibrary.org/obo/HP_0008064 url:http://www.dermnetnz.org/topics/ichthyosis/ url:https://en.wikipedia.org/wiki/Ichthyosis url:https://www.ncbi.nlm.nih.gov/books/NBK1420/ DOID:1696 ICD10CM:Q80.2 MESH:D016113 MESH:D017490 NCI:C84805 OMIM:242100 SNOMEDCT_US_2016_03_01:12215009 SNOMEDCT_US_2016_03_01:205549003 SNOMEDCT_US_2016_03_01:205550003 SNOMEDCT_US_2016_03_01:205556009 SNOMEDCT_US_2016_03_01:254156001 SNOMEDCT_US_2016_03_01:267372009 SNOMEDCT_US_2016_03_01:268245001 SNOMEDCT_US_2016_03_01:268282005 SNOMEDCT_US_2016_03_01:35970001 UMLS_CUI:C0079154 UMLS_CUI:C0079583 Alligator skin Congenital non bullous ichthyosiform erythroderma Ichthyosiform erythroderma lamellar ichthyosis nonbullous congenital ichthyosiform erythroderma disease_ontology Lamellar desquamation of the newborn DOID:1699 OMIM mapping confirmed by DO. [SN]. congenital ichthyosiform erythroderma Alligator skin SNOMEDCT_2005_07_31:205556009 Congenital non bullous ichthyosiform erythroderma SNOMEDCT_2005_07_31:12215009 Ichthyosiform erythroderma MTHICD9_2006:757.1 SNOMEDCT_2005_07_31:205549003 lamellar ichthyosis CSP2005:0726-9470 Lamellar desquamation of the newborn SNOMEDCT_2005_07_31:268245001 A disease of anatomical entity that occurs in the muscular and/or skeletal system. MESH:D009140 NCI:C107377 SNOMEDCT_US_2016_03_01:156881000 SNOMEDCT_US_2016_03_01:268047003 SNOMEDCT_US_2016_03_01:268142006 SNOMEDCT_US_2016_03_01:274149006 SNOMEDCT_US_2016_03_01:928000 UMLS_CUI:C0026857 disease_ontology DOID:17 musculoskeletal system disease A disease of anatomical entity that occurs in the muscular and/or skeletal system. url:http://en.wikipedia.org/wiki/Human_musculoskeletal_system#Diseases_and_disorders An organ system cancer located_in endocrine system that is characterized by uncontrolled cellular proliferation of the hormone producing glands of the endocrine system. DOID:10009 ICD10CM:C75.9 ICD9CM:194.9 MESH:D004701 NCI:C3010 NCI:C3575 SNOMEDCT_US_2016_03_01:127015005 SNOMEDCT_US_2016_03_01:190140005 SNOMEDCT_US_2016_03_01:363347009 SNOMEDCT_US_2016_03_01:371982006 SNOMEDCT_US_2016_03_01:387922007 SNOMEDCT_US_2016_03_01:387927001 SNOMEDCT_US_2016_03_01:93780007 UMLS_CUI:C0014132 UMLS_CUI:C0153658 Endocrine tumor endocrine neoplasm malignant Endocrine tumor malignant neoplasm of endocrine gland malignant tumour of endocrine gland neoplasm of endocrine gland (disorder) neoplasm of endocrine system (disorder) disease_ontology DOID:170 endocrine gland cancer An organ system cancer located_in endocrine system that is characterized by uncontrolled cellular proliferation of the hormone producing glands of the endocrine system. url:http://en.wikipedia.org/wiki/Endocrine_system Endocrine tumor NCI2004_11_17:C3010 endocrine neoplasm CSP2005:2009-5861 malignant Endocrine tumor NCI2004_11_17:C3575 malignant tumour of endocrine gland SNOMEDCT_2005_07_31:93780007 neoplasm of endocrine gland (disorder) SNOMEDCT_2005_07_31:127015005 neoplasm of endocrine gland (disorder) SNOMEDCT_2005_07_31:387922007 neoplasm of endocrine system (disorder) SNOMEDCT_2005_07_31:387927001 ICD10CM:Q80.1 MESH:D016114 NCI:C84779 OMIM:308100 SNOMEDCT_US_2016_03_01:205552006 SNOMEDCT_US_2016_03_01:254160003 SNOMEDCT_US_2016_03_01:402771003 SNOMEDCT_US_2016_03_01:72523005 UMLS_CUI:C0079588 X-linked ichthyosis with steryl-sulphatase deficiency X-linked placental steryl-sulphatase deficiency X-linked recessive ichthyosis disease_ontology DOID:1700 OMIM mapping confirmed by DO. [LS]. X-linked ichthyosis X-linked ichthyosis with steryl-sulphatase deficiency SNOMEDCT_2005_07_31:72523005 X-linked placental steryl-sulphatase deficiency SNOMEDCT_2005_07_31:3944006 X-linked recessive ichthyosis SNOMEDCT_2005_07_31:205552006 A lipid metabolism disorder that involves defects in steroid metabolism. MESH:D043202 UMLS_CUI:C1257809 disease_ontology DOID:1701 steroid inherited metabolic disorder A lipid metabolism disorder that involves defects in steroid metabolism. url:http://en.wikipedia.org/wiki/Inborn_error_of_steroid_metabolism url:http://www.genome.jp/dbget-bin/www_bget?pathway+hsa00140 ICD10CM:Q80.0 MESH:D016112 NCI:C84778 OMIM:146700 SNOMEDCT_US_2016_03_01:20512000 SNOMEDCT_US_2016_03_01:205551004 SNOMEDCT_US_2016_03_01:254157005 UMLS_CUI:C0079584 Dominant congenital ichthyosiform erythroderma (disorder) disease_ontology DOID:1702 OMIM mapping confirmed by DO. [SN]. ichthyosis vulgaris Dominant congenital ichthyosiform erythroderma (disorder) SNOMEDCT_2005_07_31:20512000 ICD10CM:C91.1 NCI:C35424 SNOMEDCT_US_2016_03_01:277550009 UMLS_CUI:C0349631 Richter syndrome disease_ontology DOID:1703 Richter's syndrome DOID:0050027 DOID:0050031 DOID:0050033 DOID:10243 flea-borne rickettsiosis mite-borne rickettsiosis rickettsiosis tick-borne rickettsiosis disease_ontology rickettsia infection DOID:1709 rickettsiosis true MESH:D017599 SNOMEDCT_US_2016_03_01:253096008 SNOMEDCT_US_2016_03_01:73676002 UMLS_CUI:C0206093 primitive Neuroectodermal neoplasm disease_ontology DOID:171 neuroectodermal tumor primitive Neuroectodermal neoplasm NCI2004_11_17:C3716 An aortic valve disease that has_physical_basis_in incomplete opening of the aortic valve. DOID:12034 DOID:1711 ICD10CM:I06.0 ICD10CM:Q23.0 ICD9CM:395.0 ICD9CM:746.3 MESH:D001024 NCI:C50462 OMIM:109730 OMIM:614823 ORDO:402075 SNOMEDCT_US_2016_03_01:155282009 SNOMEDCT_US_2016_03_01:156922005 SNOMEDCT_US_2016_03_01:18546004 SNOMEDCT_US_2016_03_01:390722003 SNOMEDCT_US_2016_03_01:60573004 SNOMEDCT_US_2016_03_01:72011007 UMLS_CUI:C0003507 UMLS_CUI:C0152417 UMLS_CUI:C0155567 AS Aortic stenosis Congenital aortic valve stenosis Rheumatic aortic stenosis rheumatic aortic valve stenosis disease_ontology DOID:1712 Xref MGI. OMIM mapping confirmed by DO. [SN]. aortic valve stenosis An aortic valve disease that has_physical_basis_in incomplete opening of the aortic valve. url:http://en.wikipedia.org/wiki/Aortic_valve_stenosis Aortic stenosis SNOMEDCT_2005_07_31:390722003 Congenital aortic valve stenosis SNOMEDCT_2005_07_31:156922005 Rheumatic aortic stenosis ICD9CM_2006:395.0 SNOMEDCT_2005_07_31:155282009 ICD10CM:G25.83 ICD9CM:333.93 SNOMEDCT_US_2016_03_01:446995005 UMLS_CUI:C0375200 disease_ontology DOID:1713 benign shuddering attacks MESH:D049309 NCI:C97041 SNOMEDCT_US_2016_03_01:254670002 SNOMEDCT_US_2016_03_01:65540008 UMLS_CUI:C0333992 Clear cell acanthoma (disorder) Clear cell acanthoma (morphologic abnormality) Pale (Clear cell) acanthoma disease_ontology DOID:172 clear cell acanthoma Clear cell acanthoma (disorder) SNOMEDCT_2005_07_31:254670002 Clear cell acanthoma (morphologic abnormality) SNOMEDCT_2005_07_31:65540008 Pale (Clear cell) acanthoma NCI2004_11_17:C4085 DOID:10297 DOID:11480 DOID:12880 DOID:13836 DOID:1723 DOID:9780 DOID:9781 DOID:9782 DOID:9783 ICD10CM:K26 ICD9CM:532 MESH:D004381 NCI:C26755 SNOMEDCT_US_2016_03_01:155691003 SNOMEDCT_US_2016_03_01:155700000 SNOMEDCT_US_2016_03_01:196651004 SNOMEDCT_US_2016_03_01:196669008 SNOMEDCT_US_2016_03_01:196672001 SNOMEDCT_US_2016_03_01:196679005 SNOMEDCT_US_2016_03_01:196680008 SNOMEDCT_US_2016_03_01:235703009 SNOMEDCT_US_2016_03_01:367474008 SNOMEDCT_US_2016_03_01:39755000 SNOMEDCT_US_2016_03_01:51868009 SNOMEDCT_US_2016_03_01:553009 UMLS_CUI:C0010474 UMLS_CUI:C0013295 Curling Ulcer Curling's ulcers Stress Ulcer disease_ontology DOID:1724 Adding UMLS CUI for Curling Ulcer C0013295. duodenal ulcer Curling's ulcers SNOMEDCT_2005_07_31:39755000 Stress Ulcer NCI2004_11_17:C35263 An organ system cancer that is located in the peritoneum. ICD10CM:C48.1 ICD9CM:158.8 SNOMEDCT_US_2016_03_01:187808008 SNOMEDCT_US_2016_03_01:187816004 UMLS_CUI:C0153466 disease_ontology cancer of peritoneum peritoneal neoplasm DOID:1725 peritoneum cancer An organ system cancer that is located in the peritoneum. url:http://en.wikipedia.org/wiki/Peritoneal_cancer ICD10CM:H34.82 NCI:C35341 SNOMEDCT_US_2016_03_01:65593009 UMLS_CUI:C0271080 Partial Retinal Vein Occlusion Partial occlusion of retinal vein (disorder) disease_ontology DOID:1726 partial of retinal vein occlusion Partial Retinal Vein Occlusion NCI2004_11_17:C35341 Partial occlusion of retinal vein (disorder) SNOMEDCT_2005_07_31:65593009 MESH:D012170 NCI:C34981 SNOMEDCT_US_2016_03_01:46085004 UMLS_CUI:C0035328 Occlusion, of retinal vein Retinal vein occlusion disease_ontology DOID:1727 retinal vein occlusion Occlusion, of retinal vein MTHICD9_2006:362.37 Retinal vein occlusion SNOMEDCT_2005_07_31:46085004 ICD10CM:H34 ICD10CM:H34.9 ICD9CM:362.3 ICD9CM:362.30 NCI:C34980 SNOMEDCT_US_2016_03_01:155111000 SNOMEDCT_US_2016_03_01:193373007 SNOMEDCT_US_2016_03_01:193380009 SNOMEDCT_US_2016_03_01:267717005 SNOMEDCT_US_2016_03_01:73757007 UMLS_CUI:C0035326 Retinal vasc. occlusion Retinal vascular Occlusion Retinal vascular occlusion (disorder) Retinal vascular occlusion NOS (disorder) Retinal vascular occlusion, unspecified Unspecified retinal vascular occlusion (disorder) disease_ontology DOID:1729 retinal vascular occlusion Retinal vasc. occlusion SNOMEDCT_2005_07_31:155111000 Retinal vasc. occlusion SNOMEDCT_2005_07_31:267717005 Retinal vascular Occlusion NCI2004_11_17:C34980 Retinal vascular occlusion (disorder) SNOMEDCT_2005_07_31:73757007 Retinal vascular occlusion NOS (disorder) SNOMEDCT_2005_07_31:193380009 Retinal vascular occlusion, unspecified ICD9CM_2006:362.30 Unspecified retinal vascular occlusion (disorder) SNOMEDCT_2005_07_31:193373007 NCI:C6796 UMLS_CUI:C1333371 Eccrine tumor eccrine skin neoplasm disease_ontology DOID:173 eccrine sweat gland neoplasm Eccrine tumor NCI2004_11_17:C6796 A pneumonia that results_in inflammation located_in lung, has_material_basis_in Histoplasma capsulatum var capsulatum or Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom mediastinal lymphadenopathy, has_symptom cough and has_symptom chest pain. Histoplasmosis with pneumonia (disorder) Pneumonia with histoplasmosis (disorder) disease_ontology DOID:1730 histoplasmosis pneumonia true A pneumonia that results_in inflammation located_in lung, has_material_basis_in Histoplasma capsulatum var capsulatum or Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom mediastinal lymphadenopathy, has_symptom cough and has_symptom chest pain. url:http://www.doctorfungus.org/Mycoses/human/histo/histoplamosis_d.htm url:http://www.jstor.org/stable/pdfplus/4547765.pdf url:http://www.springerlink.com/content/dl7677h135470438/fulltext.pdf Histoplasmosis with pneumonia (disorder) SNOMEDCT_2005_07_31:187061004 Pneumonia with histoplasmosis (disorder) SNOMEDCT_2005_07_31:195905006 A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum or has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom nonproductive cough, has_symptom headache, has_symptom loss of appetite and has_symptom muscle pains. DOID:351 ICD10CM:B39 ICD10CM:B39.9 ICD9CM:115 ICD9CM:115.9 MESH:C538362 MESH:D006660 NCI:C34977 NCI:C77201 SNOMEDCT_US_2016_03_01:12962009 SNOMEDCT_US_2016_03_01:154408001 SNOMEDCT_US_2016_03_01:187055002 SNOMEDCT_US_2016_03_01:187056001 SNOMEDCT_US_2016_03_01:187063001 SNOMEDCT_US_2016_03_01:187482000 SNOMEDCT_US_2016_03_01:266218008 UMLS_CUI:C0019655 UMLS_CUI:C0035288 disease_ontology DOID:1731 histoplasmosis A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum or has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom nonproductive cough, has_symptom headache, has_symptom loss of appetite and has_symptom muscle pains. url:http://www.cdc.gov/niosh/hi97146.html A coccidiosis that involves a parasitic protozoan infection of the intestine of humans and a wide range of animals caused by Cryptosporidium species, through contaminated water and food, The symptoms include watery diarrhea, dehydration, weight loss, abdominal pain, fever, nausea and vomiting. Cryptosporidium infections have also been found in other digestive tract organs, the lungs, and conjunctiva. Immunocompromised persons are at greater risk of developing the infection. DOID:1732 ICD10CM:A07.2 ICD9CM:007.4 MESH:D003457 SNOMEDCT_US_2016_03_01:186126003 SNOMEDCT_US_2016_03_01:240370009 SNOMEDCT_US_2016_03_01:58777003 UMLS_CUI:C0010418 Cryptosporidial gastroenteritis (disorder) Infection by Cryptosporidium (disorder) intestinal cryptosporidiosis disease_ontology DOID:1733 cryptosporidiosis A coccidiosis that involves a parasitic protozoan infection of the intestine of humans and a wide range of animals caused by Cryptosporidium species, through contaminated water and food, The symptoms include watery diarrhea, dehydration, weight loss, abdominal pain, fever, nausea and vomiting. Cryptosporidium infections have also been found in other digestive tract organs, the lungs, and conjunctiva. Immunocompromised persons are at greater risk of developing the infection. url:http://www.dpd.cdc.gov/DPDx/HTML/Cryptosporidiosis.htm Cryptosporidial gastroenteritis (disorder) SNOMEDCT_2005_07_31:66160001 Infection by Cryptosporidium (disorder) SNOMEDCT_2005_07_31:58777003 intestinal cryptosporidiosis ICD9CM_2006:007.4 A gastroenteritis that involves inflammation of the stomach and intestines caused by viruses. The symptoms include abdominal cramps and pain, fever, watery diarrhea, loss of appetite, nausea, and vomiting. DOID:1497 disease_ontology DOID:1734 viral gastroenteritis true A gastroenteritis that involves inflammation of the stomach and intestines caused by viruses. The symptoms include abdominal cramps and pain, fever, watery diarrhea, loss of appetite, nausea, and vomiting. url:http://www.merck.com/mmhe/sec09/ch122/ch122a.html#MMHE_122_T1 MESH:D004379 NCI:C2995 SNOMEDCT_US_2016_03_01:126833009 UMLS_CUI:C0013291 neoplasm of duodenum neoplasm of the duodenum disease_ontology DOID:1737 duodenal benign neoplasm neoplasm of duodenum SNOMEDCT_2005_07_31:126833009 neoplasm of the duodenum NCI2004_11_17:C2995 NCI:C7725 SNOMEDCT_US_2016_03_01:424279009 UMLS_CUI:C0238197 leiomyoma, small Bowel disease_ontology DOID:1738 small intestine leiomyoma leiomyoma, small Bowel NCI2004_11_17:C7725 MESH:D049309 NCI:C7419 UMLS_CUI:C0846967 disease_ontology DOID:174 acanthoma disease_ontology DOID:1741 drug-induced psychotic disease with delusion true ICD9CM:292.1 MESH:D011605 SNOMEDCT_US_2016_03_01:154855001 SNOMEDCT_US_2016_03_01:191483003 SNOMEDCT_US_2016_03_01:191498001 UMLS_CUI:C0033937 Drug-induced psychosis Drug-induced psychotic disorder disease_ontology DOID:1742 drug psychosis Drug-induced psychosis SNOMEDCT_2005_07_31:154855001 Drug-induced psychotic disorder ICD9CM_2006:292.1 Lymphatic vessel tumor (morphologic abnormality) Lymphatic vessel tumor (qualifier value) Lymphatic vessel tumor NOS (morphologic abnormality) neoplasm of the Lymphatic Vessel disease_ontology DOID:1744 malignant lymphatic vessel tumor true Lymphatic vessel tumor (morphologic abnormality) SNOMEDCT_2005_07_31:115236002 Lymphatic vessel tumor (qualifier value) SNOMEDCT_2005_07_31:134168002 Lymphatic vessel tumor NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189876004 neoplasm of the Lymphatic Vessel NCI2004_11_17:C3723 A conjunctival cancer characterized by abnormal growth of dysplastic squamous epithelial cells on the surface of the eye that arises from the conjunctiva that has infiltrated beyond the confines of the epithelial basement membrane. NCI:C4549 SNOMEDCT_US_2016_03_01:255003007 UMLS_CUI:C0346359 Conjunctival Epidermoid carcinoma invasive squamous cell carcinoma of the conjunctiva ocular surface squamous neoplasia squamous cell carcinoma of conjunctiva disease_ontology DOID:1748 conjunctival squamous cell carcinoma A conjunctival cancer characterized by abnormal growth of dysplastic squamous epithelial cells on the surface of the eye that arises from the conjunctiva that has infiltrated beyond the confines of the epithelial basement membrane. url:https://www.ncbi.nlm.nih.gov/pubmed/27584160 url:https://www.ncbi.nlm.nih.gov/pubmed/?term=19883851 Conjunctival Epidermoid carcinoma NCI2004_11_17:C4549 squamous cell carcinoma of conjunctiva SNOMEDCT_2005_07_31:255003007 A carcinoma that derives_from squamous epithelial cells. DOID:5512 EFO:0000707 MESH:D002294 MESH:D018307 NCI:C2929 SNOMEDCT_US_2016_03_01:154605007 SNOMEDCT_US_2016_03_01:189566008 SNOMEDCT_US_2016_03_01:28899001 SNOMEDCT_US_2016_03_01:402815007 UMLS_CUI:C0007137 UMLS_CUI:C0751688 epidermoid carcinoma malignant squamous cell tumor squamous carcinoma squamous cell Epithelioma squamous cell cancer squamous cell carcinoma (disorder) squamous cell carcinoma (morphologic abnormality) squamous cell carcinoma NOS (morphologic abnormality) disease_ontology DOID:1749 squamous cell carcinoma A carcinoma that derives_from squamous epithelial cells. url:http://en.wikipedia.org/wiki/Squamous_cell_carcinoma url:http://www.medicinenet.com/skin_cancer/page2.htm epidermoid carcinoma CSP2005:2000-3145 malignant squamous cell tumor NCI2004_11_17:C4971 squamous carcinoma NCI2004_11_17:C2929 squamous cell Epithelioma NCI2004_11_17:C8999 squamous cell carcinoma (disorder) SNOMEDCT_2005_07_31:402815007 squamous cell carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:28899001 squamous cell carcinoma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189566008 A cardiovascular cancer that is located_in blood vessels. DOID:3339 DOID:5454 DOID:5548 DOID:7019 DOID:7020 DOID:7392 MESH:D019043 NCI:C5348 NCI:C5380 NCI:C5383 NCI:C5388 NCI:C7388 NCI:C7390 SNOMEDCT_US_2016_03_01:126737003 SNOMEDCT_US_2016_03_01:93817006 UMLS_CUI:C0282607 UMLS_CUI:C0346845 UMLS_CUI:C1290407 UMLS_CUI:C1334616 UMLS_CUI:C1334617 UMLS_CUI:C1334630 UMLS_CUI:C1335753 Blood Vessel neoplasm Blood vessel tumor (morphologic abnormality) Blood vessel tumors (morphologic abnormality) Blood vessel tumour disorder Haemangiomatous tumour blood vessel neoplasm leiomyosarcoma of the renal Vein malignant great vessel tumor malignant tumor of pulmonary Vein malignant tumor of pulmonary artery malignant vascular neoplasm malignant vascular tumor neoplasm of great vessel pulmonary artery malignant neoplasm pulmonary vein malignant neoplasm renal vein leiomyosarcoma vascular tissue neoplasm vascular tumors disease_ontology DOID:175 vascular cancer A cardiovascular cancer that is located_in blood vessels. url:http://en.wikipedia.org/wiki/Vascular Blood Vessel neoplasm NCI2004_11_17:C7387 Blood vessel tumor (morphologic abnormality) SNOMEDCT_2005_07_31:115235003 Blood vessel tumors (morphologic abnormality) SNOMEDCT_2005_07_31:189862000 Blood vessel tumour disorder SNOMEDCT_2005_07_31:126736007 Haemangiomatous tumour SNOMEDCT_2005_07_31:189874001 blood vessel neoplasm CSP2005:2007-0683 leiomyosarcoma of the renal Vein NCI2004_11_17:C5388 malignant tumor of pulmonary Vein NCI2004_11_17:C5383 malignant tumor of pulmonary artery NCI2004_11_17:C5380 malignant vascular tumor NCI2004_11_17:C7390 vascular tumors NCI2004_11_17:C7388 NCI:C4550 SNOMEDCT_US_2016_03_01:255004001 UMLS_CUI:C0346360 Conjunctival melanoma malignant melanoma of conjunctiva (disorder) disease_ontology DOID:1751 malignant conjunctival melanoma Conjunctival melanoma NCI2004_11_17:C4550 malignant melanoma of conjunctiva (disorder) SNOMEDCT_2005_07_31:255004001 An ocular cancer that has_material_basis_in melanocytes and is located_in the eye. eye melanoma intraocular melanoma melanoma of eye disease_ontology DOID:1752 ocular melanoma An ocular cancer that has_material_basis_in melanocytes and is located_in the eye. url:http://www.cancer.gov/dictionary?CdrID=269467 melanoma of eye NCI2004_11_17:C8562 A mitral valve disease that is characterized by the narrowing of the orifice of the mitral valve of the heart. MESH:D008946 NCI:C50654 SNOMEDCT_US_2016_03_01:155277002 SNOMEDCT_US_2016_03_01:194725005 SNOMEDCT_US_2016_03_01:79619009 UMLS_CUI:C0026269 Mitral stenosis disease_ontology DOID:1754 mitral valve stenosis A mitral valve disease that is characterized by the narrowing of the orifice of the mitral valve of the heart. url:http://en.wikipedia.org/wiki/Mitral_valve_stenosis Mitral stenosis SNOMEDCT_2005_07_31:194725005 ICD10CM:G51 ICD10CM:G51.9 ICD9CM:351 ICD9CM:351.9 MESH:D005155 NCI:C27594 SNOMEDCT_US_2016_03_01:155069009 SNOMEDCT_US_2016_03_01:155071009 SNOMEDCT_US_2016_03_01:193097005 SNOMEDCT_US_2016_03_01:230543003 SNOMEDCT_US_2016_03_01:267704007 SNOMEDCT_US_2016_03_01:422426003 SNOMEDCT_US_2016_03_01:90039006 UMLS_CUI:C0015464 disease_ontology DOID:1756 facial nerve disease MESH:D005150 NCI:C116916 NCI:C84703 OMIM:141300 SNOMEDCT_US_2016_03_01:29868009 SNOMEDCT_US_2016_03_01:95834000 UMLS_CUI:C0015458 PARRY-ROMBERG SYNDROME disease_ontology DOID:1757 OMIM mapping confirmed by DO. [SN]. facial hemiatrophy An American histoplasmosis that results_in inflammation located_in lung, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom mediastinal lymphadenopathy, has_symptom cough and has_symptom chest pain. disease_ontology DOID:1758 Histoplasma capsulatum pneumonia true An American histoplasmosis that results_in inflammation located_in lung, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom mediastinal lymphadenopathy, has_symptom cough and has_symptom chest pain. url:http://www.springerlink.com/content/dl7677h135470438/fulltext.pdf A histoplasmosis that results_in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom nonproductive cough, has_symptom headache, has_symptom loss of appetite and has_symptom muscle pains. ICD10CM:B39.4 ICD9CM:115.0 SNOMEDCT_US_2016_03_01:187036002 SNOMEDCT_US_2016_03_01:187037006 SNOMEDCT_US_2016_03_01:187046000 SNOMEDCT_US_2016_03_01:76255006 UMLS_CUI:C0153261 disease_ontology DOID:1759 American histoplasmosis A histoplasmosis that results_in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom nonproductive cough, has_symptom headache, has_symptom loss of appetite and has_symptom muscle pains. url:http://www.ncbi.nlm.nih.gov/sites/entrez/16940867 An organ system cancer that located_in the heart and blood vessels. NCI:C4784 UMLS_CUI:C0497243 Cardiovascular tumors cardiovascular neoplasm disease_ontology DOID:176 cardiovascular cancer An organ system cancer that located_in the heart and blood vessels. url:http://www.cancer.gov/dictionary?CdrID=44005 url:http://www.healthcentral.com/heart-disease/h/cardiovascular-cancer.html Cardiovascular tumors NCI2004_11_17:C4784 cardiovascular neoplasm CSP2005:2007-0683 NCI:C5827 SNOMEDCT_US_2016_03_01:126973004 UMLS_CUI:C1263899 neoplasm of facial nerve (disorder) tumor of Facial nerve disease_ontology DOID:1760 facial nerve neoplasm neoplasm of facial nerve (disorder) SNOMEDCT_2005_07_31:126973004 tumor of Facial nerve NCI2004_11_17:C5827 ICD10CM:G51.2 MESH:D008556 NCI:C84886 OMIM:155900 SNOMEDCT_US_2016_03_01:215617000 SNOMEDCT_US_2016_03_01:2511001 SNOMEDCT_US_2016_03_01:37770007 UMLS_CUI:C0025235 Cheilitis granulomatosa of Mescher-Melkersson-Rosenthal Melkersson's syndrome disease_ontology DOID:1761 OMIM mapping confirmed by DO. [SN]. Melkersson-Rosenthal syndrome Cheilitis granulomatosa of Mescher-Melkersson-Rosenthal SNOMEDCT_2005_07_31:2511001 Melkersson's syndrome MTHICD9_2006:351.8 A lip disease characterized by the inflammation of the lips; which may include the perioral skin, the vermilion border and the labial mucosa. HP:0100825 ICD10CM:K13.0 MESH:D002613 NCI:C79545 SNOMEDCT_US_2016_03_01:155664000 SNOMEDCT_US_2016_03_01:196557006 SNOMEDCT_US_2016_03_01:266495008 SNOMEDCT_US_2016_03_01:7847004 UMLS_CUI:C0007971 disease_ontology DOID:1762 cheilitis A lip disease characterized by the inflammation of the lips; which may include the perioral skin, the vermilion border and the labial mucosa. url:http://en.wikipedia.org/wiki/Cheilitis A disease of mental health where symptoms are deliberately produced, feigned or exaggerated in order to falsely demonstrate the presence of an illness. ICD10CM:F68.11 ICD9CM:300.16 SNOMEDCT_US_2016_03_01:31122002 SNOMEDCT_US_2016_03_01:430751001 UMLS_CUI:C0015481 Munchausen syndrome disease_ontology DOID:1766 factitious disorder A disease of mental health where symptoms are deliberately produced, feigned or exaggerated in order to falsely demonstrate the presence of an illness. url:http://en.wikipedia.org/wiki/Factitious_disorder url:http://my.clevelandclinic.org/disorders/factitious_disorders/hic_an_overview_of_factitious_disorders.aspx A somatoform disorder that involves numbness, blindness, paralysis or fits without a neurological cause. ICD10CM:F44 ICD9CM:300.11 MESH:D003291 SNOMEDCT_US_2016_03_01:20734000 SNOMEDCT_US_2016_03_01:44376007 SNOMEDCT_US_2016_03_01:89239005 UMLS_CUI:C0009946 Conversion Hysterical Neurosis Conversion hysteria or reaction Hysterical neurosis, conversion type disease_ontology DOID:1768 conversion disorder A somatoform disorder that involves numbness, blindness, paralysis or fits without a neurological cause. url:http://en.wikipedia.org/wiki/Conversion_disorder Conversion Hysterical Neurosis MTH:NOCODE Conversion hysteria or reaction MTHICD9_2006:300.11 Hysterical neurosis, conversion type SNOMEDCT_2005_07_31:89239005 ICD10CM:K59.3 MESH:D008532 SNOMEDCT_US_2016_03_01:28536002 UMLS_CUI:C0025162 disease_ontology DOID:1770 toxic megacolon ICD9CM:386.55 SNOMEDCT_US_2016_03_01:194376005 SNOMEDCT_US_2016_03_01:43000004 UMLS_CUI:C0155519 Labyrinthine unilateral reactive loss (disorder) Loss of labyrinthine reactivity, unilateral Unilateral loss of labyrinthine reactivity (disorder) disease_ontology DOID:1776 labyrinthine unilateral reactive loss Labyrinthine unilateral reactive loss (disorder) SNOMEDCT_2005_07_31:194376005 Loss of labyrinthine reactivity, unilateral ICD9CM_2006:386.55 Unilateral loss of labyrinthine reactivity (disorder) SNOMEDCT_2005_07_31:43000004 ICD9CM:386.51 SNOMEDCT_US_2016_03_01:111542008 SNOMEDCT_US_2016_03_01:194372007 UMLS_CUI:C0155515 Unilateral hyperactive labyrinth (disorder) hyperactive labyrinth, unilateral hyperactive unilateral labyrinthine dysfunction (disorder) disease_ontology DOID:1777 unilateral hyperactive labyrinth Unilateral hyperactive labyrinth (disorder) SNOMEDCT_2005_07_31:111542008 hyperactive labyrinth, unilateral ICD9CM_2006:386.51 hyperactive unilateral labyrinthine dysfunction (disorder) SNOMEDCT_2005_07_31:194372007 A cardiovascular system disease that primarily affects the blood vessels which includes the arteries, veins and capillaries that carry blood to and from the heart. DOID:0000405 DOID:2403 DOID:2869 DOID:324 DOID:325 DOID:45 ICD10CM:I72.9 ICD9CM:442.9 MESH:D000783 MESH:D014652 MESH:D020758 MESH:D020760 NCI:C26693 NCI:C35117 SNOMEDCT_US_2016_03_01:134342004 SNOMEDCT_US_2016_03_01:155425005 SNOMEDCT_US_2016_03_01:155428007 SNOMEDCT_US_2016_03_01:195292009 SNOMEDCT_US_2016_03_01:27550009 SNOMEDCT_US_2016_03_01:362727005 SNOMEDCT_US_2016_03_01:371029002 SNOMEDCT_US_2016_03_01:432119003 SNOMEDCT_US_2016_03_01:85659009 UMLS_CUI:C0002940 UMLS_CUI:C0042373 UMLS_CUI:C0752127 UMLS_CUI:C0752130 vascular tissue disease disease_ontology DOID:178 vascular disease A cardiovascular system disease that primarily affects the blood vessels which includes the arteries, veins and capillaries that carry blood to and from the heart. url:http://en.wikipedia.org/wiki/Vascular_disease An endocrine gland cancer located_in the thryoid gland located in the neck below the thyroid cartilage. DOID:10008 ICD10CM:C73 ICD9CM:193 KEGG:05216 MESH:D013964 NCI:C3414 NCI:C7510 SNOMEDCT_US_2016_03_01:127018007 SNOMEDCT_US_2016_03_01:154554008 SNOMEDCT_US_2016_03_01:363478007 SNOMEDCT_US_2016_03_01:94098005 UMLS_CUI:C0007115 UMLS_CUI:C0040136 Thyroid gland neoplasm malignant neoplasm of thyroid gland malignant tumour of thyroid gland neoplasm of thyroid gland thyroid neoplasm disease_ontology DOID:1781 thyroid cancer An endocrine gland cancer located_in the thryoid gland located in the neck below the thyroid cartilage. url:http://en.wikipedia.org/wiki/Thyroid_gland Thyroid gland neoplasm NCI2004_11_17:C3414 malignant neoplasm of thyroid gland ICD9CM_2006:193 malignant tumour of thyroid gland SNOMEDCT_2005_07_31:154554008 neoplasm of thyroid gland SNOMEDCT_2005_07_31:127018007 thyroid neoplasm MTH:NOCODE An endocrine gland cancer located_in the pituitary gland located at the base of the brain. DOID:5671 ICD10CM:C75.1 MESH:D010911 NCI:C3330 NCI:C4769 SNOMEDCT_US_2016_03_01:127024001 SNOMEDCT_US_2016_03_01:363482009 SNOMEDCT_US_2016_03_01:93964007 UMLS_CUI:C0032019 UMLS_CUI:C0496842 Pituitary gland neoplasm malignant Pituitary neoplasm malignant tumor of pituitary gland (disorder) neoplasm of pituitary gland (disorder) pituitary gland cancer pituitary neoplasm disease_ontology DOID:1785 pituitary cancer An endocrine gland cancer located_in the pituitary gland located at the base of the brain. url:http://en.wikipedia.org/wiki/Pituitary_gland Pituitary gland neoplasm NCI2004_11_17:C3330 malignant Pituitary neoplasm NCI2004_11_17:C4769 malignant tumor of pituitary gland (disorder) SNOMEDCT_2005_07_31:363482009 neoplasm of pituitary gland (disorder) SNOMEDCT_2005_07_31:127024001 pituitary neoplasm CSP2005:2006-7421 MESH:D000314 NCI:C2860 SNOMEDCT_US_2016_03_01:54292009 UMLS_CUI:C0001630 Adrenal Rest neoplasm disease_ontology DOID:1786 adrenal rest tumor Adrenal Rest neoplasm NCI2004_11_17:C2860 A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain. MESH:D010493 NCI:C34915 SNOMEDCT_US_2016_03_01:3238004 UMLS_CUI:C0031046 disease_ontology DOID:1787 pericarditis A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain. url:http://en.wikipedia.org/wiki/Pericarditis A peritoneum cancer that develops from cells of the mesothelium and is located_in the peritoneum. DOID:0050874 DOID:7954 ICD10CM:C45.1 NCI:C8704 NCI:C9350 SNOMEDCT_US_2016_03_01:109853004 SNOMEDCT_US_2016_03_01:187806007 UMLS_CUI:C0346109 UMLS_CUI:C0854886 Advanced malignant Mesothelioma of Peritoneum advanced malignant peritoneal mesothelioma malignant mesothelioma of peritoneum disease_ontology DOID:1788 peritoneal mesothelioma A peritoneum cancer that develops from cells of the mesothelium and is located_in the peritoneum. url:http://en.wikipedia.org/wiki/Mesothelioma Advanced malignant Mesothelioma of Peritoneum NCI2004_11_17:C8704 malignant mesothelioma of peritoneum SNOMEDCT_2005_07_31:187806007 NCI:C7633 UMLS_CUI:C1377610 Mesothelioma of Peritoneum disease_ontology DOID:1789 benign peritoneal mesothelioma Mesothelioma of Peritoneum NCI2004_11_17:C7633 A cell type cancer that has_material_basis_in mesothelial tissue. DOID:4487 DOID:6965 DOID:7434 MESH:C562839 NCI:C27926 NCI:C4456 NCI:C7865 NCI:C8420 OMIM:156240 SNOMEDCT_US_2016_03_01:62064005 UMLS_CUI:C0278752 UMLS_CUI:C0345967 UMLS_CUI:C0392400 UMLS_CUI:C1332338 Diffuse malignant Mesothelioma advanced malignant mesothelioma asbestos-related malignant mesothelioma malignant tumor of Mesothelium disease_ontology DOID:1790 OMIM mapping confirmed by DO. [SN]. malignant mesothelioma A cell type cancer that has_material_basis_in mesothelial tissue. url:http://cancergenome.nih.gov/cancersselected/Mesothelioma url:http://en.wikipedia.org/wiki/Mesothelioma url:http://www.cancer.gov/dictionary?CdrID=44323 url:http://www.merriam-webster.com/medlineplus/mesothelioma Diffuse malignant Mesothelioma NCI2004_11_17:C8420 malignant tumor of Mesothelium NCI2004_11_17:C4456 A carcinoma that is located_in the inside of the abdomen. NCI:C40022 UMLS_CUI:C1514428 primary peritoneal carcinoma disease_ontology DOID:1791 peritoneal carcinoma A carcinoma that is located_in the inside of the abdomen. url:http://www.cancerhelp.org.uk/about-cancer/cancer-questions/primary-peritoneal-carcinoma NCI:C5714 UMLS_CUI:C1335307 Lymphoma of pancreas disease_ontology DOID:1792 pancreas lymphoma Lymphoma of pancreas NCI2004_11_17:C5714 An endocrine gland cancer located_in the pancreas. DOID:14356 DOID:1797 DOID:3588 DOID:9859 ICD10CM:C25.0 ICD10CM:C25.1 ICD10CM:C25.2 ICD9CM:157.0 ICD9CM:157.1 ICD9CM:157.2 ICD9CM:157.8 KEGG:05212 MESH:D010190 NCI:C3305 OMIM:606856 OMIM:613347 OMIM:613348 OMIM:614320 ORDO:1333 ORDO:217074 SNOMEDCT_US_2016_03_01:126859007 SNOMEDCT_US_2016_03_01:154476001 SNOMEDCT_US_2016_03_01:154477005 SNOMEDCT_US_2016_03_01:154478000 SNOMEDCT_US_2016_03_01:187791002 SNOMEDCT_US_2016_03_01:187792009 SNOMEDCT_US_2016_03_01:187796007 SNOMEDCT_US_2016_03_01:269553001 SNOMEDCT_US_2016_03_01:269554007 SNOMEDCT_US_2016_03_01:269555008 SNOMEDCT_US_2016_03_01:363419009 SNOMEDCT_US_2016_03_01:93715005 SNOMEDCT_US_2016_03_01:93823001 SNOMEDCT_US_2016_03_01:94082003 UMLS_CUI:C0030297 UMLS_CUI:C0153458 UMLS_CUI:C0153459 UMLS_CUI:C0153460 UMLS_CUI:C0153463 Ca body of pancreas Ca head of pancreas Ca tail of pancreas malignant neoplasm of body of pancreas malignant neoplasm of head of pancreas malignant neoplasm of tail of pancreas pancreas neoplasm pancreatic neoplasm pancreatic tumor disease_ontology DOID:1793 Xref MGI. pancreatic cancer An endocrine gland cancer located_in the pancreas. url:http://en.wikipedia.org/wiki/Pancreatic Ca body of pancreas SNOMEDCT_2005_07_31:154477005 Ca head of pancreas SNOMEDCT_2005_07_31:154476001 Ca tail of pancreas SNOMEDCT_2005_07_31:154478000 pancreas neoplasm CSP2005:2014-4876 pancreatic neoplasm MTH:NOCODE pancreatic tumor NCI2004_11_17:C3305 DOID:1794 NCI:C4445 NCI:C7430 SNOMEDCT_US_2016_03_01:254604005 SNOMEDCT_US_2016_03_01:255088001 UMLS_CUI:C0345920 UMLS_CUI:C0346648 malignant neoplasm of the Exocrine pancreas malignant tumor of exocrine pancreas malignant tumor of exocrine pancreas (disorder) pancreatic Exocrine tumor tumor of exocrine pancreas (disorder) disease_ontology DOID:1795 tumor of exocrine pancreas malignant neoplasm of the Exocrine pancreas NCI2004_11_17:C7430 malignant tumor of exocrine pancreas (disorder) SNOMEDCT_2005_07_31:255088001 pancreatic Exocrine tumor NCI2004_11_17:C4445 tumor of exocrine pancreas (disorder) SNOMEDCT_2005_07_31:254604005 A pancreatic cancer that is located_in the pancreas and that arises from transformed cells of mesenchymal origin. NCI:C5715 UMLS_CUI:C1096346 sarcoma of pancreas disease_ontology DOID:1796 pancreas sarcoma A pancreatic cancer that is located_in the pancreas and that arises from transformed cells of mesenchymal origin. url:http://www.searchmedica.com/search.html?q=sarcoma%20of%20the%20pancreas&c=pc&ss= sarcoma of pancreas NCI2004_11_17:C5715 An islet cell tumor that has_material_basis_in epithelial cells. ICD10CM:C25.4 ICD9CM:157.4 MESH:D018273 NCI:C3770 SNOMEDCT_US_2016_03_01:187794005 SNOMEDCT_US_2016_03_01:254612002 SNOMEDCT_US_2016_03_01:60346004 SNOMEDCT_US_2016_03_01:93843007 UMLS_CUI:C1328479 Islet cell carcinoma (morphologic abnormality) carcinoma of endocrine pancreas (disorder) malignant neoplasm of islets of Langerhans pancreatic neuroendocrine carcinoma disease_ontology DOID:1798 pancreatic endocrine carcinoma An islet cell tumor that has_material_basis_in epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma Islet cell carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:60346004 carcinoma of endocrine pancreas (disorder) SNOMEDCT_2005_07_31:254612002 malignant neoplasm of islets of Langerhans SNOMEDCT_2005_07_31:93843007 pancreatic neuroendocrine carcinoma NCI2004_11_17:C3770 A pancreatic cancer that is located_in the pancreatic islet cells. DOID:10165 ICD10CM:C25.4 ICD10CM:D13.7 MESH:D007516 NCI:C27031 SNOMEDCT_US_2016_03_01:126864006 SNOMEDCT_US_2016_03_01:128878003 SNOMEDCT_US_2016_03_01:154609001 SNOMEDCT_US_2016_03_01:188855000 SNOMEDCT_US_2016_03_01:237596009 SNOMEDCT_US_2016_03_01:254611009 SNOMEDCT_US_2016_03_01:261713004 SNOMEDCT_US_2016_03_01:269636003 SNOMEDCT_US_2016_03_01:399528006 SNOMEDCT_US_2016_03_01:76345009 UMLS_CUI:C0242363 UMLS_CUI:C0496784 Islet cell neoplasm Islet cell tumor Islet cell tumour endocrine pancreas cancer malignant pancreatic Endocrine tumor malignant tumor of endocrine pancreas (disorder) pancreatic Endocrine neoplasm disease_ontology DOID:1799 islet cell tumor A pancreatic cancer that is located_in the pancreatic islet cells. url:http://en.wikipedia.org/wiki/Islets_of_Langerhans url:http://en.wikipedia.org/wiki/Neuroendocrine_tumor Islet cell neoplasm SNOMEDCT_2005_07_31:399528006 Islet cell tumor MTHICD9_2006:211.7 Islet cell tumour SNOMEDCT_2005_07_31:269636003 malignant pancreatic Endocrine tumor NCI2004_11_17:C3770 malignant tumor of endocrine pancreas (disorder) SNOMEDCT_2005_07_31:254611009 pancreatic Endocrine neoplasm NCI2004_11_17:C27031 A disease of anatomical entity that is located_in kidney, ureter, bladder and urethra. DOID:579 NCI:C27599 UMLS_CUI:C1335051 Non-neoplastic urinary tract disease urinary tract disease disease_ontology DOID:18 urinary system disease A disease of anatomical entity that is located_in kidney, ureter, bladder and urethra. url:http://en.wikipedia.org/wiki/Urinary_system Non-neoplastic urinary tract disease NCI2004_11_17:C27599 A bone benign neoplasm that is located_in the mouth and results_in an overgrowth of gingival tissue due to irritation or trauma. MESH:D018214 NCI:C8422 SNOMEDCT_US_2016_03_01:189896007 SNOMEDCT_US_2016_03_01:25603007 SNOMEDCT_US_2016_03_01:302862001 SNOMEDCT_US_2016_03_01:302863006 SNOMEDCT_US_2016_03_01:80699009 UMLS_CUI:C0206640 Fibro-osteoma disease_ontology peripheral ossifying fibroma DOID:180 ossifying fibroma A bone benign neoplasm that is located_in the mouth and results_in an overgrowth of gingival tissue due to irritation or trauma. url:http://en.wikipedia.org/wiki/Ossifying_fibroma Fibro-osteoma SNOMEDCT_2005_07_31:302862001 A carcinoma that derives_from neuroendocrine cells. MESH:D018278 NCI:C3773 SNOMEDCT_US_2016_03_01:253000007 SNOMEDCT_US_2016_03_01:55937004 UMLS_CUI:C0206695 disease_ontology DOID:1800 neuroendocrine carcinoma A carcinoma that derives_from neuroendocrine cells. url:http://www.carcinomatype.com/what-is-neuroendocrine-carcinoma.html metastatic tumor to the pancreas secondary malignant neoplasm of pancreas (disorder) disease_ontology DOID:1801 secondary malignant neoplasm to the pancreas true metastatic tumor to the pancreas NCI2004_11_17:C8543 secondary malignant neoplasm of pancreas (disorder) SNOMEDCT_2005_07_31:94459006 ICD9CM:355.9 SNOMEDCT_US_2016_03_01:193155002 SNOMEDCT_US_2016_03_01:267600005 SNOMEDCT_US_2016_03_01:32595002 UMLS_CUI:C0235880 disease_ontology DOID:1802 mononeuritis MESH:D009443 NCI:C116381 SNOMEDCT_US_2016_03_01:123254001 SNOMEDCT_US_2016_03_01:128192007 SNOMEDCT_US_2016_03_01:203116001 SNOMEDCT_US_2016_03_01:247378004 SNOMEDCT_US_2016_03_01:84299009 UMLS_CUI:C0027813 peripheral neuritis disease_ontology DOID:1803 neuritis peripheral neuritis SNOMEDCT_2005_07_31:128192007 A coxsackie carditis that results_in inflammation located_in pericardium, has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom acute chest pain, has_symptom disturbance of heart rate, and has_symptom dyspnea. disease_ontology DOID:1804 coxsackie pericarditis true A coxsackie carditis that results_in inflammation located_in pericardium, has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom acute chest pain, has_symptom disturbance of heart rate, and has_symptom dyspnea. url:http://ccdm.unboundmedicine.com/ccdm/ub/view/Communicable-Diseases/460229/all/coxsackievirus_carditis_ An Enterovirus infectious disease that results_in inflammation located_in heart, has_material_basis_in Human enterovirus B, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. Enterovirus heart infection (disorder) disease_ontology DOID:1805 coxsackie carditis true An Enterovirus infectious disease that results_in inflammation located_in heart, has_material_basis_in Human enterovirus B, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. url:http://books.google.com/books?id=VbjFQiz8aR0C&pg=RA1-PA1614&lpg#v= url:http://ccdm.unboundmedicine.com/ccdm/ub/view/Communicable-Diseases/460229/all/coxsackievirus_carditis_ Enterovirus heart infection (disorder) SNOMEDCT_2005_07_31:46397005 A coxsackie carditis that results_in inflammation located_in endocardium, has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. disease_ontology DOID:1806 coxsackie endocarditis true A coxsackie carditis that results_in inflammation located_in endocardium, has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. url:http://books.google.com/books?id=c-dKGQ0uSioC&pg=PA200&lpg#v=onepage&q&f=false ICD10CM:G90.5 ICD10CM:M89.0 ICD9CM:337.2 ICD9CM:337.20 ICD9CM:337.21 MESH:D012019 NCI:C85042 OMIM:604335 SNOMEDCT_US_2016_03_01:128079007 SNOMEDCT_US_2016_03_01:156849009 SNOMEDCT_US_2016_03_01:15743005 SNOMEDCT_US_2016_03_01:192921009 SNOMEDCT_US_2016_03_01:203490000 SNOMEDCT_US_2016_03_01:203492008 SNOMEDCT_US_2016_03_01:2103002 SNOMEDCT_US_2016_03_01:393605009 SNOMEDCT_US_2016_03_01:403604006 SNOMEDCT_US_2016_03_01:50642008 UMLS_CUI:C0034931 disease_ontology DOID:1811 OMIM mapping confirmed by DO. [SN]. reflex sympathetic dystrophy A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue. MESH:D002114 NCI:C3672 SNOMEDCT_US_2016_03_01:190863003 SNOMEDCT_US_2016_03_01:237881004 SNOMEDCT_US_2016_03_01:6595006 UMLS_CUI:C0006663 Pathologically calcified structure pathologic calcification disease_ontology DOID:182 calcinosis A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue. url:http://en.wikipedia.org/wiki/Calcinosis Pathologically calcified structure SNOMEDCT_2005_07_31:18115005 pathologic calcification CSP2005:0531-6510 ICD10CM:H04.15 ICD9CM:375.14 SNOMEDCT_US_2016_03_01:193979004 SNOMEDCT_US_2016_03_01:75068001 UMLS_CUI:C0339121 disease_ontology DOID:1822 secondary lacrimal atrophy Epileptic absence status Epileptic twilight state Petit mal status (disorder) Petit mal status, epileptic disease_ontology DOID:1823 petit mal status true Epileptic absence status MTHICD9_2006:345.2 Epileptic twilight state MTHICD9_2006:293.0 Petit mal status (disorder) SNOMEDCT_2005_07_31:7033004 Petit mal status, epileptic ICD9CM_2006:345.2 MESH:D013226 NCI:C85079 SNOMEDCT_US_2016_03_01:13973009 SNOMEDCT_US_2016_03_01:155039002 SNOMEDCT_US_2016_03_01:192998006 SNOMEDCT_US_2016_03_01:193019007 SNOMEDCT_US_2016_03_01:194499008 SNOMEDCT_US_2016_03_01:230456007 UMLS_CUI:C0038220 (Grand mal status) or (status epilepticus) disease_ontology DOID:1824 status epilepticus (Grand mal status) or (status epilepticus) SNOMEDCT_2005_07_31:192998006 A childhood electroclinical syndrome that is characterized by brief and frequent absence seizures in children with age of onset between four and ten years. ICD10CM:G40.A MESH:D004832 NCI:C3023 NCI:C50436 SNOMEDCT_US_2016_03_01:140805008 SNOMEDCT_US_2016_03_01:155037000 SNOMEDCT_US_2016_03_01:163596002 SNOMEDCT_US_2016_03_01:16757004 SNOMEDCT_US_2016_03_01:192980007 SNOMEDCT_US_2016_03_01:192983009 SNOMEDCT_US_2016_03_01:230413002 SNOMEDCT_US_2016_03_01:432241000124101 SNOMEDCT_US_2016_03_01:50866000 SNOMEDCT_US_2016_03_01:79631006 UMLS_CUI:C0014553 petit mal seizure pyknolepsy disease_ontology absence seizure DOID:1825 childhood absence epilepsy A childhood electroclinical syndrome that is characterized by brief and frequent absence seizures in children with age of onset between four and ten years. url:http://en.wikipedia.org/wiki/Childhood_absence_epilepsy petit mal seizure CSP2005:0485-7316 absence seizure SNOMEDCT_2005_07_31:140805008 A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions. EFO:0000474 ICD10CM:G40.9 ICD10CM:G40.909 ICD9CM:345.9 MESH:D004827 NCI:C3020 SNOMEDCT_US_2016_03_01:128613002 SNOMEDCT_US_2016_03_01:155036009 SNOMEDCT_US_2016_03_01:155045005 SNOMEDCT_US_2016_03_01:193026007 SNOMEDCT_US_2016_03_01:246545002 SNOMEDCT_US_2016_03_01:267593008 SNOMEDCT_US_2016_03_01:267698007 SNOMEDCT_US_2016_03_01:271788002 SNOMEDCT_US_2016_03_01:313307000 SNOMEDCT_US_2016_03_01:84757009 UMLS_CUI:C0014544 epilepsy syndrome epileptic syndrome disease_ontology DOID:1826 epilepsy A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions. url:http://books.google.com/books?id=YXqX04Te9ioC&printsec=frontcover&source=gbs_ge_summary_r&cad=0#v=onepage&q&f=false url:http://www.merriam-webster.com/medlineplus/epilepsy An epilepsy syndrome that is characterised by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain. MESH:D004829 NCI:C3021 OMIM:600669 OMIM:604827 OMIM:606972 OMIM:607628 OMIM:607682 OMIM:608762 OMIM:609750 OMIM:611136 OMIM:611934 OMIM:612899 OMIM:613060 OMIM:614847 SNOMEDCT_US_2016_03_01:155038005 SNOMEDCT_US_2016_03_01:155043003 SNOMEDCT_US_2016_03_01:192989008 SNOMEDCT_US_2016_03_01:192994008 SNOMEDCT_US_2016_03_01:19598007 UMLS_CUI:C0014548 Generalised epilepsy disease_ontology DOID:1827 Xref MGI. idiopathic generalized epilepsy An epilepsy syndrome that is characterised by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain. url:http://en.wikipedia.org/wiki/Epilepsy url:http://en.wikipedia.org/wiki/Generalized_epilepsy Generalised epilepsy SNOMEDCT_2005_07_31:192994008 ICD9CM:598.8 UMLS_CUI:C0029752 disease_ontology DOID:1829 urethral stricture DOID:13012 DOID:1831 Mild hyperemesis gravidarum, antepartum Mild hyperemesis gravidarum, delivered disease_ontology DOID:1832 Mild hyperemesis gravidarum true ICD10CM:G58.7 ICD9CM:354.5 NCI:C70938 SNOMEDCT_US_2016_03_01:30292005 UMLS_CUI:C0151295 Mononeuritis multiplex Mononeuritis multiplex (disorder) disease_ontology DOID:1835 mononeuritis multiplex Mononeuritis multiplex ICD9CM_2006:354.5 Mononeuritis multiplex (disorder) SNOMEDCT_2005_07_31:30292005 ICD9CM:250.1 MESH:D016883 NCI:C50530 OMIM:612227 SNOMEDCT_US_2016_03_01:154671004 SNOMEDCT_US_2016_03_01:190328004 SNOMEDCT_US_2016_03_01:24927004 SNOMEDCT_US_2016_03_01:267467004 SNOMEDCT_US_2016_03_01:420422005 UMLS_CUI:C0011880 DIABETES MELLITUS, KETOSIS-PRONE ketosis-prone diabetes mellitus disease_ontology DOID:1837 OMIM mapping confirmed by DO. [SN]. diabetic ketoacidosis MESH:D007706 NCI:C75486 OMIM:309400 SNOMEDCT_US_2016_03_01:59178007 UMLS_CUI:C0022716 COPPER TRANSPORT DISEASE Menkes kinky-hair syndrome steely hair syndrome disease_ontology DOID:1838 OMIM mapping confirmed by DO. [SN]. Menkes disease Menkes kinky-hair syndrome SNOMEDCT_2005_07_31:59178007 steely hair syndrome CSP2005:1849-5365 A connective tissue cancer that is located_in bone and is characterized by uncontrolled cellular proliferation that destroys normal bone tissue. DOID:3348 CSP:2019-1041 MESH:D001859 NCI:C9343 SNOMEDCT_US_2016_03_01:115239009 SNOMEDCT_US_2016_03_01:126537000 SNOMEDCT_US_2016_03_01:240201007 UMLS_CUI:C0005967 CA - bone cancer bone neoplasm bone tumour malignant bone neoplasm malignant bone tumour malignant neoplasm of bone malignant osseous tumor neoplasm of bone osseous tumor disease_ontology DOID:184 bone cancer A connective tissue cancer that is located_in bone and is characterized by uncontrolled cellular proliferation that destroys normal bone tissue. url:http://www.cancer.gov/cancertopics/factsheet/Sites-Types/bone url:http://www.cancer.gov/cancertopics/types/bone url:http://www.wrongdiagnosis.com/b/bone_cancer/intro.htm CA - bone cancer SNOMEDCT_2005_07_31:269466003 bone neoplasm CSP2005:2019-1041 bone tumour SNOMEDCT_2005_07_31:240201007 malignant bone tumour SNOMEDCT_2005_07_31:363371002 malignant neoplasm of bone SNOMEDCT_2005_07_31:93725000 malignant osseous tumor NCI2004_11_17:C4016 neoplasm of bone SNOMEDCT_2005_07_31:126537000 osseous tumor NCI2004_11_17:C9343 ICD9CM:354.9 SNOMEDCT_US_2016_03_01:193143008 SNOMEDCT_US_2016_03_01:58850003 UMLS_CUI:C0154746 Mononeuritis of upper limb (disorder) Mononeuritis of upper limb, unspecified Mononeuritis upper limb NOS (disorder) disease_ontology DOID:1844 mononeuritis of upper limb Mononeuritis of upper limb (disorder) SNOMEDCT_2005_07_31:58850003 Mononeuritis of upper limb, unspecified ICD9CM_2006:354.9 Mononeuritis upper limb NOS (disorder) SNOMEDCT_2005_07_31:193143008 A Rhabditida infectious disease that involves parasitic infection of gastrointestinal tracts of ruminants, horses, cats, dogs, swine and humans by nematodes belonging to the suborder Strongylida. disease_ontology DOID:1845 Strongylida infectious disease true A Rhabditida infectious disease that involves parasitic infection of gastrointestinal tracts of ruminants, horses, cats, dogs, swine and humans by nematodes belonging to the suborder Strongylida. url:http://en.wikipedia.org/wiki/Strongylida A drug dependence that involves the continued use of cannabis despite problems related to use of the substance. ICD10CM:F12.2 ICD9CM:304.3 MESH:D002189 NCI:C34445 SNOMEDCT_US_2016_03_01:191835009 SNOMEDCT_US_2016_03_01:191836005 SNOMEDCT_US_2016_03_01:268766005 SNOMEDCT_US_2016_03_01:85005007 UMLS_CUI:C0006870 disease_ontology DOID:1849 cannabis dependence A drug dependence that involves the continued use of cannabis despite problems related to use of the substance. url:http://en.wikipedia.org/wiki/Cannabis_dependence MESH:D002780 NCI:C84400 OMIM:147480 OMIM:211600 OMIM:243300 OMIM:601847 OMIM:602347 OMIM:605479 OMIM:614972 OMIM:615878 ORDO:172 ORDO:65682 ORDO:69665 SNOMEDCT_US_2016_03_01:4637005 UMLS_CUI:C0008372 intrahepatic cholestasis of pregnancy disease_ontology DOID:1852 Xref MGI. intrahepatic cholestasis ICD10CM:M27.8 MESH:D002636 NCI:C84630 OMIM:118400 SNOMEDCT_US_2016_03_01:53432004 SNOMEDCT_US_2016_03_01:76098004 UMLS_CUI:C0008029 disease_ontology DOID:1856 OMIM mapping confirmed by DO. [SN]. cherubism An autosomal dominant disease that involves skin pigmentation, bone and hormonal problems along with premature puberty. It has material basis in mutations in the GNAS1 gene. DOID:11345 ICD10CM:Q78.1 ICD9CM:756.54 MESH:D005357 MESH:D005359 NCI:C34610 OMIM:174800 SNOMEDCT_US_2016_03_01:10623005 SNOMEDCT_US_2016_03_01:205508003 SNOMEDCT_US_2016_03_01:36517007 UMLS_CUI:C0016063 UMLS_CUI:C0016065 fibrous Dysplasia of bone fibrous dysplasia of bone (disorder) osteitis fibrosa disseminata polyostotic fibrous dysplasia disease_ontology DOID:1858 OMIM mapping confirmed by DO. [SN]. McCune Albright syndrome An autosomal dominant disease that involves skin pigmentation, bone and hormonal problems along with premature puberty. It has material basis in mutations in the GNAS1 gene. url:http://emedicine.medscape.com/article/923026-overview url:http://en.wikipedia.org/wiki/McCune%E2%80%93Albright_syndrome url:http://ghr.nlm.nih.gov/condition/mccune-albright-syndrome url:http://www.nichd.nih.gov/health/topics/mccune_albright_syndrome.cfm url:http://www.nlm.nih.gov/medlineplus/ency/article/001217.htm url:http://www.umm.edu/ency/article/001217.htm fibrous Dysplasia of bone NCI2004_11_17:C34609 fibrous dysplasia of bone (disorder) SNOMEDCT_2005_07_31:10623005 A bone cancer and jaw disease that is located_in the jaw and results_in a swollen jaw, results_in numbness or a tingling sensation in jaw, and results_in an abnormal growth of the jaw bone. MESH:D007573 SNOMEDCT_US_2016_03_01:126634001 UMLS_CUI:C0022364 neoplasm of jaw disease_ontology jaw neoplasm DOID:1862 jaw cancer A bone cancer and jaw disease that is located_in the jaw and results_in a swollen jaw, results_in numbness or a tingling sensation in jaw, and results_in an abnormal growth of the jaw bone. url:http://www.buzzle.com/articles/jaw-cancer-symptoms.html neoplasm of jaw SNOMEDCT_2005_07_31:126634001 MESH:D012888 NCI:C3375 SNOMEDCT_US_2016_03_01:126538005 UMLS_CUI:C0037305 disease_ontology DOID:1863 skull cancer ICD10CM:M27.1 ICD9CM:526.3 MESH:D006101 SNOMEDCT_US_2016_03_01:15350006 UMLS_CUI:C0162375 central giant cell (reparative) granuloma central giant cell granuloma central giant cell reparative granuloma of jaw (disorder) disease_ontology DOID:1866 giant cell reparative granuloma central giant cell (reparative) granuloma ICD9CM_2006:526.3 central giant cell granuloma MTHICD9_2006:526.3 central giant cell reparative granuloma of jaw (disorder) SNOMEDCT_2005_07_31:15350006 ICD10CM:I09.2 ICD9CM:393 SNOMEDCT_US_2016_03_01:155287003 SNOMEDCT_US_2016_03_01:194719006 SNOMEDCT_US_2016_03_01:194723003 SNOMEDCT_US_2016_03_01:78069008 UMLS_CUI:C0155561 disease_ontology DOID:1869 chronic rheumatic pericarditis disease_ontology DOID:1873 abortion complicated by metabolic disorder true EFO:0004234 Sexual impotence (finding) erectile dysfunction disease_ontology DOID:1875 impotence Sexual impotence (finding) SNOMEDCT_2005_07_31:23781003 ICD10CM:F52.9 ICD10CM:R37 MESH:D012735 NCI:C3347 SNOMEDCT_US_2016_03_01:225723003 SNOMEDCT_US_2016_03_01:231532002 SNOMEDCT_US_2016_03_01:39894007 SNOMEDCT_US_2016_03_01:56925008 SNOMEDCT_US_2016_03_01:65655009 UMLS_CUI:C0549622 disease_ontology DOID:1876 sexual dysfunction A heart septal defect located_in in the septum that separates the two atria of the heart. ICD10CM:Q21.1 MESH:D006344 NCI:C84473 OMIM:PS108800 ORDO:1478 SNOMEDCT_US_2016_03_01:156915002 SNOMEDCT_US_2016_03_01:204316004 SNOMEDCT_US_2016_03_01:253366007 SNOMEDCT_US_2016_03_01:253368008 SNOMEDCT_US_2016_03_01:268178001 SNOMEDCT_US_2016_03_01:405752007 SNOMEDCT_US_2016_03_01:69524004 SNOMEDCT_US_2016_03_01:70142008 UMLS_CUI:C0018817 atrial septal defect atrioseptal defect auricular septal defect congenital atrial septal defect interatrial septal defect interauricular septal defect disease_ontology DOID:1882 Xref MGI. atrial heart septal defect A heart septal defect located_in in the septum that separates the two atria of the heart. url:https://en.wikipedia.org/wiki/Atrial_septal_defect atrioseptal defect CSP2005:0725-0467 A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis C virus, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice. DOID:12430 DOID:12432 DOID:2049 EFO:0003047 ICD10CM:B19.2 ICD10CM:B19.20 ICD9CM:070.7 MESH:D006526 MESH:D019698 NCI:C3098 SNOMEDCT_US_2016_03_01:123324009 SNOMEDCT_US_2016_03_01:154349000 SNOMEDCT_US_2016_03_01:186634008 SNOMEDCT_US_2016_03_01:186643004 SNOMEDCT_US_2016_03_01:50711007 UMLS_CUI:C0019196 NANBH Viral hepatitis C chronic hepatitis C hepatitis C infection hepatitis nonA nonB disease_ontology DOID:1883 hepatitis C A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis C virus, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice. url:http://www.cdc.gov/hepatitis/HCV/index.htm url:http://www.cdc.gov/hepatitis/Resources/Professionals/PDFs/ABCTable.pdf url:http://www.cdc.gov/hepatitis/hcv/pdfs/hepcgeneralfactsheet.pdf NANBH NCI2004_11_17:C3098 hepatitis nonA nonB CSP2005:4000-0219 A hepatitis that involves viral infection causing inflammation of the liver. DOID:12548 DOID:1331 DOID:1885 MESH:D006524 UMLS_CUI:C0019194 Unspecified viral hepatitis with hepatic coma Viral hepatitis with hepatic coma (disorder) animal viral hepatitis human viral hepatitis viral hepatitis with hepatic coma disease_ontology DOID:1884 viral hepatitis A hepatitis that involves viral infection causing inflammation of the liver. url:http://www.cdc.gov/HEPATITIS/ Unspecified viral hepatitis with hepatic coma ICD9CM_2006:070.6 Viral hepatitis with hepatic coma (disorder) SNOMEDCT_2005_07_31:40946000 animal viral hepatitis CSP2005:1754-7196 A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Flaviviridae viruses, which are transmitted_by arthropod vectors. disease_ontology DOID:1886 Flaviviridae infectious disease true A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Flaviviridae viruses, which are transmitted_by arthropod vectors. url:http://en.wikipedia.org/wiki/Flaviviridae A cranial nerve disease that is located_in the optic nerve. MESH:D009901 NCI:C79698 SNOMEDCT_US_2016_03_01:194037001 SNOMEDCT_US_2016_03_01:267741008 SNOMEDCT_US_2016_03_01:77157004 UMLS_CUI:C0029132 disorder of the second nerve optic nerve disorder optic neuropathy disease_ontology DOID:1891 optic nerve disease A cranial nerve disease that is located_in the optic nerve. url:http://www.academy.org.uk/lectures/barnard3.htm url:http://www.nature.com/eye/journal/v18/n11/full/6701575a.html disorder of the second nerve SNOMEDCT_2005_07_31:194037001 optic nerve disorder CSP2005:2042-6601 optic neuropathy SNOMEDCT_2005_07_31:312964007 ICD10CM:H01.13 ICD9CM:373.31 SNOMEDCT_US_2016_03_01:36259009 UMLS_CUI:C0155177 disease_ontology DOID:1893 eczematous dermatitis of eyelid ICD10CM:H01.1 ICD9CM:373.3 SNOMEDCT_US_2016_03_01:111524003 SNOMEDCT_US_2016_03_01:193919009 UMLS_CUI:C0155176 Non-infected eyelid dermatoses disease_ontology DOID:1894 noninfectious dermatoses of eyelid Non-infected eyelid dermatoses SNOMEDCT_2005_07_31:193919009 ICD9CM:373.32 SNOMEDCT_US_2016_03_01:402249007 UMLS_CUI:C0155178 Contact and allergic dermatitis of eyelid disease_ontology DOID:1895 allergic contact dermatitis of eyelid Contact and allergic dermatitis of eyelid ICD9CM_2006:373.32 MESH:D012811 SNOMEDCT_US_2016_03_01:126845000 SNOMEDCT_US_2016_03_01:254581007 UMLS_CUI:C0037073 neoplasm of sigmoid colon (disorder) tumor of sigmoid colon (disorder) disease_ontology DOID:1896 sigmoid neoplasm neoplasm of sigmoid colon (disorder) SNOMEDCT_2005_07_31:126845000 tumor of sigmoid colon (disorder) SNOMEDCT_2005_07_31:254581007 MESH:D012810 UMLS_CUI:C0037072 disease_ontology DOID:1897 sigmoid disease NCI:C7737 UMLS_CUI:C0238519 sarcoma of the vagina disease_ontology DOID:1901 vagina sarcoma sarcoma of the vagina NCI2004_11_17:C7737 NCI:C5576 SNOMEDCT_US_2016_03_01:404014008 UMLS_CUI:C1275254 malignant fibrous histiocytoma of skin (disorder) vaginal melanoma disease_ontology DOID:1906 malignant skin fibrous histiocytoma malignant fibrous histiocytoma of skin (disorder) SNOMEDCT_2005_07_31:404014008 vaginal melanoma NCI2004_11_17:C27394 vaginal melanoma NCI2004_11_17:C5576 MESH:D051677 NCI:C4247 SNOMEDCT_US_2016_03_01:189772005 SNOMEDCT_US_2016_03_01:253040001 SNOMEDCT_US_2016_03_01:34360000 SNOMEDCT_US_2016_03_01:443439001 UMLS_CUI:C0334463 Fibroxanthosarcoma Fibroxanthosarcoma (morphologic abnormality) MFH fibrous histiocytoma, malignant (morphologic abnormality) disease_ontology DOID:1907 malignant fibroxanthoma Fibroxanthosarcoma SNOMEDCT_2005_07_31:189772005 Fibroxanthosarcoma (morphologic abnormality) SNOMEDCT_2005_07_31:253040001 MFH NCI2004_11_17:C4247 fibrous histiocytoma, malignant (morphologic abnormality) SNOMEDCT_2005_07_31:34360000 disease_ontology DOID:1908 cutaneous fibrohistiocytic neoplasm true A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye. EFO:0000756 KEGG:05218 MESH:D008545 NCI:C3224 SNOMEDCT_US_2016_03_01:154501005 SNOMEDCT_US_2016_03_01:189749008 SNOMEDCT_US_2016_03_01:2092003 SNOMEDCT_US_2016_03_01:269503007 SNOMEDCT_US_2016_03_01:269577007 SNOMEDCT_US_2016_03_01:372244006 UMLS_CUI:C0025202 Naevocarcinoma malignant melanoma disease_ontology DOID:1909 melanoma A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye. url:http://en.wikipedia.org/wiki/Melanoma url:http://www.ncbi.nlm.nih.gov/pubmed/?term=22123420 Naevocarcinoma SNOMEDCT_2005_07_31:189749008 malignant melanoma SNOMEDCT_2005_07_31:269577007 NCI:C6379 UMLS_CUI:C1336945 vaginal Yolk Sac neoplasm vaginal endodermal sinus neoplasm disease_ontology DOID:1910 vaginal yolk sac tumor vaginal Yolk Sac neoplasm NCI2004_11_17:C6379 A germ cell cancer that has_material_basis_in cells that line the yolk sac of the embryo. MESH:D018240 NCI:C3011 SNOMEDCT_US_2016_03_01:404081005 SNOMEDCT_US_2016_03_01:74409009 UMLS_CUI:C0014145 Hepatoid yolk sac tumour Yolk Sac neoplasm Yolk sac tumor infantile embryonal carcinoma disease_ontology DOID:1911 endodermal sinus tumor A germ cell cancer that has_material_basis_in cells that line the yolk sac of the embryo. url:http://en.wikipedia.org/wiki/Endodermal_sinus_tumor url:http://en.wikipedia.org/wiki/Germ_cell_tumor url:http://www.cincinnatichildrens.org/health/y/yolk-sac/ url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=876 Hepatoid yolk sac tumour SNOMEDCT_2005_07_31:74409009 Yolk Sac neoplasm NCI2004_11_17:C3011 Yolk sac tumor SNOMEDCT_2005_07_31:404081005 secondary malignant neoplasm of vagina (disorder) secondary tumor to the vagina disease_ontology DOID:1912 metastasis to vagina true secondary malignant neoplasm of vagina (disorder) SNOMEDCT_2005_07_31:94668004 secondary tumor to the vagina NCI2004_11_17:C6333 Alternating exotropia with A pattern (disorder) disease_ontology DOID:1913 alternating exotropia with A pattern true Alternating exotropia with A pattern (disorder) SNOMEDCT_2005_07_31:31254003 ICD10CM:E79.1 MESH:D007926 NCI:C61255 OMIM:300322 SNOMEDCT_US_2016_03_01:10406007 SNOMEDCT_US_2016_03_01:124275001 SNOMEDCT_US_2016_03_01:190917005 SNOMEDCT_US_2016_03_01:190918000 SNOMEDCT_US_2016_03_01:190921003 SNOMEDCT_US_2016_03_01:267451005 SNOMEDCT_US_2016_03_01:68655008 SNOMEDCT_US_2016_03_01:90924007 UMLS_CUI:C0023374 Complete hypoxanthine-guanine phosphoribosyltransferase deficiency HG-PRT deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder) Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder) [Ambiguous] Hypoxanthine-guanine-phosphoribosyltransferase deficiency (& [Lesch - Nyhan syndrome]) Lesch - Nyhan syndrome Lesch-Nyhan syndrome (disorder) X-linked hyperuricemia (disorder) [Ambiguous] deficiency of IMP pyrophosphorylase hypoxanthine guanine phosphoribosyltransferase deficiency disease_ontology DOID:1919 OMIM mapping confirmed by DO. [SN]. Lesch-Nyhan syndrome Complete hypoxanthine-guanine phosphoribosyltransferase deficiency SNOMEDCT_2005_07_31:190921003 HG-PRT deficiency MTHICD9_2006:277.2 Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder) SNOMEDCT_2005_07_31:267451005 Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder) [Ambiguous] SNOMEDCT_2005_07_31:90924007 Hypoxanthine-guanine-phosphoribosyltransferase deficiency (& [Lesch - Nyhan syndrome]) SNOMEDCT_2005_07_31:190918000 Lesch - Nyhan syndrome SNOMEDCT_2005_07_31:190917005 Lesch-Nyhan syndrome (disorder) SNOMEDCT_2005_07_31:10406007 X-linked hyperuricemia (disorder) [Ambiguous] SNOMEDCT_2005_07_31:68655008 deficiency of IMP pyrophosphorylase SNOMEDCT_2005_07_31:124275001 hypoxanthine guanine phosphoribosyltransferase deficiency CSP2005:1849-8105 A reproductive organ cancer that is located_in the sex cord-derived tissues of the ovary and testis. DOID:12293 MESH:D018312 NCI:C3794 NCI:C39948 SNOMEDCT_US_2016_03_01:115221000 SNOMEDCT_US_2016_03_01:134323003 SNOMEDCT_US_2016_03_01:189724009 SNOMEDCT_US_2016_03_01:189741006 SNOMEDCT_US_2016_03_01:253028001 SNOMEDCT_US_2016_03_01:71440001 UMLS_CUI:C0206724 UMLS_CUI:C1515289 Sex Cord-Stromal neoplasm Sex Cord-Stromal tumor Sex cord stromal tumour Sex cord-stromal tumor, no ICD-O subtype (morphologic abnormality) Specialized gonadal neoplasm (morphologic abnormality) Specialized gonadal neoplasm NOS (morphologic abnormality) Specialized gonadal tumor (qualifier value) malignant testicular sex cord-stromal tumor disease_ontology DOID:192 sex cord-gonadal stromal tumor A reproductive organ cancer that is located_in the sex cord-derived tissues of the ovary and testis. url:http://en.wikipedia.org/wiki/Sex_cord-gonadal_stromal_tumour Sex Cord-Stromal neoplasm NCI2004_11_17:C3794 Sex Cord-Stromal tumor MTH:NOCODE Sex cord stromal tumour SNOMEDCT_2005_07_31:253028001 Sex cord-stromal tumor, no ICD-O subtype (morphologic abnormality) SNOMEDCT_2005_07_31:71440001 Specialized gonadal neoplasm (morphologic abnormality) SNOMEDCT_2005_07_31:115221000 Specialized gonadal neoplasm (morphologic abnormality) SNOMEDCT_2005_07_31:189724009 Specialized gonadal neoplasm NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189741006 Specialized gonadal tumor (qualifier value) SNOMEDCT_2005_07_31:134323003 An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood. MESH:D033461 NCI:C3961 SNOMEDCT_US_2016_03_01:144021008 SNOMEDCT_US_2016_03_01:166733000 SNOMEDCT_US_2016_03_01:237857006 SNOMEDCT_US_2016_03_01:271198001 SNOMEDCT_US_2016_03_01:35885006 UMLS_CUI:C0740394 (Blood urate raized) or (hyperuricemia) uricacidemia disease_ontology DOID:1920 hyperuricemia An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood. url:http://en.wikipedia.org/wiki/Hyperuricemia (Blood urate raized) or (hyperuricemia) SNOMEDCT_2005_07_31:166733000 uricacidemia CSP2005:1849-8097 ICD10CM:Q98.0 ICD10CM:Q98.4 ICD9CM:758.7 MESH:D007713 NCI:C34752 SNOMEDCT_US_2016_03_01:157021007 SNOMEDCT_US_2016_03_01:205696000 SNOMEDCT_US_2016_03_01:205701007 SNOMEDCT_US_2016_03_01:205712007 SNOMEDCT_US_2016_03_01:22053006 SNOMEDCT_US_2016_03_01:268357008 SNOMEDCT_US_2016_03_01:405769009 SNOMEDCT_US_2016_03_01:405770005 UMLS_CUI:C0022735 Hypogonadotropic Hypogonadism Klinefelter syndrome XXY syndrome XXY trisomy disease_ontology DOID:1921 No OMIM mapping, confirmed by DO. [LS]. Klinefelter's syndrome Hypogonadotropic Hypogonadism NCI2004_11_17:C34752 XXY syndrome MTHICD9_2006:758.7 XXY trisomy CSP2005:1254-8437 disease_ontology DOID:1922 endocrine syndrome true MESH:D012734 UMLS_CUI:C0036875 disorder of sexual differentiation (disorder) sex differentiation disorder disease_ontology DOID:1923 sex differentiation disease disorder of sexual differentiation (disorder) SNOMEDCT_2005_07_31:39179006 sex differentiation disorder CSP2005:2586-8784 A gonadal disease that is characterized by diminished functional activity of the gonads. MESH:D007006 NCI:C9227 OMIM:241100 OMIM:307300 SNOMEDCT_US_2016_03_01:48130008 UMLS_CUI:C0020619 disease_ontology DOID:1924 hypogonadism A gonadal disease that is characterized by diminished functional activity of the gonads. url:http://en.wikipedia.org/wiki/Hypogonadism A genetic disease that is characterized by underdevelopment of the tips of fingers or toes, underdevelopment or abscense of finger or toe nails and developmental disability. MESH:C536436 NCI:C35321 OMIM:135900 SNOMEDCT_US_2016_03_01:10007009 UMLS_CUI:C0265338 Dwarfism-Onychodysplasia Fifth Digit Syndrome Short Stature-Onychodysplasia. disease_ontology DOID:1925 OMIM mapping confirmed by DO. [SN]. Coffin-Siris syndrome A genetic disease that is characterized by underdevelopment of the tips of fingers or toes, underdevelopment or abscense of finger or toe nails and developmental disability. url:http://en.wikipedia.org/wiki/Coffin%E2%80%93Siris_syndrome url:http://ghr.nlm.nih.gov/condition/coffin-siris-syndrome url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1465 A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver. ICD10CM:E75.22 MESH:D005776 NCI:C61268 ORDO:355 SNOMEDCT_US_2016_03_01:180485001 SNOMEDCT_US_2016_03_01:190794006 SNOMEDCT_US_2016_03_01:2859005 SNOMEDCT_US_2016_03_01:62201009 UMLS_CUI:C0017205 Gaucher disease acid beta-glucosidase deficiency glocucerebrosidase deficiency glucosylceramide beta-glucosidase deficiency kerasin thesaurismosis lipoid histiocytosis (kerasin type) disease_ontology DOID:1926 Xref MGI. OMIM mapping confirmed by DO. [SN]. Gaucher's disease A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver. url:http://en.wikipedia.org/wiki/Gaucher%27s_disease url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/12/viewAbstract lipoid histiocytosis (kerasin type) CSP2005:1849-8920 ICD10CM:E75.3 MESH:D013106 NCI:C117254 SNOMEDCT_US_2016_03_01:238028008 SNOMEDCT_US_2016_03_01:58459009 UMLS_CUI:C0037899 Sphingolipidosis (disorder) Sphingolipidosis, NOS sphingolipidoses disease_ontology DOID:1927 sphingolipidosis Sphingolipidosis (disorder) SNOMEDCT_2005_07_31:238028008 Sphingolipidosis, NOS SNOMEDCT_2005_07_31:58459009 MESH:D018980 NCI:C85232 OMIM:194050 SNOMEDCT_US_2016_03_01:63247009 UMLS_CUI:C0175702 Fanconi Schlesinger syndrome disease_ontology DOID:1928 OMIM mapping confirmed by DO. [LS]. Williams-Beuren syndrome Fanconi Schlesinger syndrome CSP2005:4006-0100 ICD10CM:Q25.3 MESH:D021921 NCI:C85176 OMIM:185500 SNOMEDCT_US_2016_03_01:204436002 SNOMEDCT_US_2016_03_01:268185002 UMLS_CUI:C0003499 Supra-valvular aortic stenosis Supravalvar aortic stenosis (disorder) disease_ontology DOID:1929 supravalvular aortic stenosis Supra-valvular aortic stenosis MTHICD9_2006:747.22 Supra-valvular aortic stenosis SNOMEDCT_2005_07_31:204436002 Supravalvar aortic stenosis (disorder) SNOMEDCT_2005_07_31:268185002 An organ system cancer that is manifested in the reproductive organs. DOID:1900 NCI:C3674 UMLS_CUI:C0178830 Reproductive tumor malignant reproductive system neoplasm disease_ontology cancer of reproductive system DOID:193 reproductive organ cancer An organ system cancer that is manifested in the reproductive organs. url:http://en.wikipedia.org/wiki/Reproductive_system#Examples_of_cancers Reproductive tumor NCI2004_11_17:C3674 MESH:D007849 NCI:C34760 OMIM:245800 SNOMEDCT_US_2016_03_01:232059000 SNOMEDCT_US_2016_03_01:232060005 SNOMEDCT_US_2016_03_01:5619004 UMLS_CUI:C0023138 disease_ontology Laurence-Moon-Biedl syndrome DOID:1930 OMIM mapping confirmed by DO. [SN]. Laurence-Moon syndrome Laurence-Moon-Biedl syndrome MTHICD9_2006:759.89 MESH:D007027 SNOMEDCT_US_2016_03_01:190463005 SNOMEDCT_US_2016_03_01:399100005 SNOMEDCT_US_2016_03_01:88108008 UMLS_CUI:C0020655 disease_ontology DOID:1931 hypothalamic disease ICD10CM:Q93.5 MESH:D017204 NCI:C75462 OMIM:105830 SNOMEDCT_US_2016_03_01:76880004 UMLS_CUI:C0162635 happy puppet syndrome puppetlike syndrome disease_ontology DOID:1932 OMIM mapping confirmed by DO. [SN]. Angelman syndrome puppetlike syndrome CSP2005:4008-0043 An autosomal dominant disease characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes; additionally it can include eye abnormalities, heart and kidney defects, dental problems and obesity. ICD10CM:Q87.2 MESH:D012415 NCI:C75466 OMIM:180849 OMIM:610543 OMIM:613684 ORDO:783 SNOMEDCT_US_2016_03_01:157032007 SNOMEDCT_US_2016_03_01:45582004 UMLS_CUI:C0035934 Broad Thumb-Hallux syndrome Rubinstein syndrome proximal chromosome 16p13.3 deletion syndrome disease_ontology DOID:1933 Xref MGI. OMIM mapping confirmed by DO. [SN]. Rubinstein-Taybi syndrome An autosomal dominant disease characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes; additionally it can include eye abnormalities, heart and kidney defects, dental problems and obesity. url:ghr.nlm.nih.gov/condition/rubinstein-taybi-syndrome url:http://en.wikipedia.org/wiki/Rubinstein%E2%80%93Taybi_syndrome A bone development disease that results_in defective ossification of located_in bone. MESH:D004413 NCI:C34560 SNOMEDCT_US_2016_03_01:109420003 UMLS_CUI:C0013393 disease_ontology DOID:1934 dysostosis A bone development disease that results_in defective ossification of located_in bone. url:http://en.wikipedia.org/wiki/Dysostosis url:http://medical-dictionary.thefreedictionary.com/dysostosis An autosomal recessive disease that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases. ICD10CM:Q87.89 MESH:D020788 NCI:C118632 OMIM:PS209900 ORDO:110 SNOMEDCT_US_2016_03_01:5619004 UMLS_CUI:C0752166 disease_ontology DOID:1935 OMIM mapping confirmed by DO. [SN]. Bardet-Biedl syndrome An autosomal recessive disease that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases. url:http://en.wikipedia.org/wiki/Bardet-Biedl_syndrome url:http://en.wikipedia.org/wiki/Ciliopathy url:http://ghr.nlm.nih.gov/condition/bardet-biedl-syndrome EFO:0003914 ICD10CM:I25.1 ICD10CM:I70 ICD9CM:440 MESH:D050197 NCI:C35768 NCI:C35771 SNOMEDCT_US_2016_03_01:155382007 SNOMEDCT_US_2016_03_01:155414001 SNOMEDCT_US_2016_03_01:194848007 SNOMEDCT_US_2016_03_01:195251000 SNOMEDCT_US_2016_03_01:266318005 SNOMEDCT_US_2016_03_01:38716007 UMLS_CUI:C0004153 disease_ontology DOID:1936 atherosclerosis disease_ontology DOID:1938 primary Bacillaceae infectious disease true disease_ontology DOID:194 gonadal tissue neoplasm true Alternating intermittent exotropia (disorder) Intermittent alternating exotropia (disorder) Intermittent exotropia, alternating disease_ontology DOID:1941 intermittent alternating exotropia true Alternating intermittent exotropia (disorder) SNOMEDCT_2005_07_31:59320006 Intermittent alternating exotropia (disorder) SNOMEDCT_2005_07_31:194104000 Intermittent exotropia, alternating ICD9CM_2006:378.24 ICD10CM:H50.3 ICD10CM:H50.30 ICD9CM:378.2 ICD9CM:378.20 SNOMEDCT_US_2016_03_01:194105004 SNOMEDCT_US_2016_03_01:246734002 SNOMEDCT_US_2016_03_01:74025007 UMLS_CUI:C0152210 Intermittent heterotropia disease_ontology DOID:1942 intermittent squint Intermittent heterotropia ICD9CM_2006:378.2 ICD10CM:L65.0 ICD9CM:704.02 NCI:C112200 SNOMEDCT_US_2016_03_01:201147004 SNOMEDCT_US_2016_03_01:39479004 UMLS_CUI:C0263518 Telogen effluvium (disorder) disease_ontology DOID:1943 telogen effluvium Telogen effluvium (disorder) SNOMEDCT_2005_07_31:39479004 A parasitic protozoa infectious disease that is caused by singled-celled protozoan parasites Trichomonas vaginalis or Trichomonas tenax, which infect the urogenital tract and mouth respectively. DOID:10996 ICD10CM:A59 ICD10CM:A59.9 ICD9CM:131 ICD9CM:131.9 MESH:D014245 NCI:C35720 SNOMEDCT_US_2016_03_01:105648001 SNOMEDCT_US_2016_03_01:187206001 SNOMEDCT_US_2016_03_01:187364002 SNOMEDCT_US_2016_03_01:56335008 UMLS_CUI:C0040921 disease_ontology trichomonas infection DOID:1947 trichomoniasis A parasitic protozoa infectious disease that is caused by singled-celled protozoan parasites Trichomonas vaginalis or Trichomonas tenax, which infect the urogenital tract and mouth respectively. url:http://en.wikipedia.org/wiki/Trichomoniasis A cholangitis that is characterized_by an inflammation that is located_in the gallbladder. DOID:1948 DOID:2829 DOID:9438 ICD10CM:K81 ICD10CM:K81.9 ICD9CM:575.10 MESH:D002764 NCI:C34465 OMIM:600803 SNOMEDCT_US_2016_03_01:197414008 SNOMEDCT_US_2016_03_01:76581006 UMLS_CUI:C0008325 acute and chronic cholecystitis acute and chronic cholecystitis (disorder) acute cholecystitis acute cholecystitis (disorder) acute cholecystitis NOS (disorder) acute cholecystitis unspecified (disorder) acute on chronic cholecystitis chronic cholecystitis chronic cholecystitis (disorder) disease_ontology DOID:1949 OMIM mapping confirmed by DO. [SN]. cholecystitis A cholangitis that is characterized_by an inflammation that is located_in the gallbladder. url:http://en.wikipedia.org/wiki/Cholecystitis url:http://www2.merriam-webster.com/cgi-bin/mwmednlm acute and chronic cholecystitis ICD9CM_2006:575.12 acute and chronic cholecystitis (disorder) SNOMEDCT_2005_07_31:396335001 acute cholecystitis ICD9CM_2006:575.0 NCI2004_11_17:C35152 SNOMEDCT_2005_07_31:155827009 SNOMEDCT_2005_07_31:197408001 acute cholecystitis (disorder) SNOMEDCT_2005_07_31:65275009 acute cholecystitis NOS (disorder) SNOMEDCT_2005_07_31:197411000 acute cholecystitis unspecified (disorder) SNOMEDCT_2005_07_31:197409009 chronic cholecystitis ICD9CM_2006:575.11 SNOMEDCT_2005_07_31:155828004 chronic cholecystitis (disorder) SNOMEDCT_2005_07_31:20824003 disease_ontology DOID:195 reproductive endocrine cancer true benign hypertensive heart disease (disorder) benign hypertensive heart disease NOS (disorder) disease_ontology DOID:1954 benign hypertensive heart disease true benign hypertensive heart disease (disorder) SNOMEDCT_2005_07_31:36221001 benign hypertensive heart disease NOS (disorder) SNOMEDCT_2005_07_31:194768006 acinar cell neoplasm acinar cell neoplasm (morphologic abnormality) acinar cell neoplasm NOS (morphologic abnormality) acinar cell tumor (morphologic abnormality) disease_ontology DOID:196 acinar cell tumor true acinar cell neoplasm NCI2004_11_17:C4197 acinar cell neoplasm (morphologic abnormality) SNOMEDCT_2005_07_31:115219005 acinar cell neoplasm (morphologic abnormality) SNOMEDCT_2005_07_31:189717008 acinar cell neoplasm NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189719006 acinar cell tumor (morphologic abnormality) SNOMEDCT_2005_07_31:189718003 acinar cell tumor (morphologic abnormality) SNOMEDCT_2005_07_31:83472001 MESH:D005184 NCI:C26771 SNOMEDCT_US_2016_03_01:128134005 UMLS_CUI:C0015556 disease_ontology DOID:1962 fallopian tube disease A fallopian tube cancer that is located_in the fallopian tube. MESH:D005185 NCI:C3867 SNOMEDCT_US_2016_03_01:154529008 SNOMEDCT_US_2016_03_01:269602009 SNOMEDCT_US_2016_03_01:276870001 SNOMEDCT_US_2016_03_01:93794008 UMLS_CUI:C0238122 cancer of the fallopian tube carcinoma of fallopian tube (disorder) fallopian tube Ca disease_ontology DOID:1963 fallopian tube carcinoma A fallopian tube cancer that is located_in the fallopian tube. url:http://www.cancer.gov/dictionary/?CdrID=45687 cancer of the fallopian tube NCI2004_11_17:C3867 carcinoma of fallopian tube (disorder) SNOMEDCT_2005_07_31:276870001 fallopian tube Ca SNOMEDCT_2005_07_31:154529008 fallopian tube Ca SNOMEDCT_2005_07_31:269602009 fallopian tube Ca SNOMEDCT_2005_07_31:93794008 A female reproductive organ cancer that is located_in fallopian tube. DOID:1961 ICD10CM:C57.0 ICD9CM:183.2 MESH:D005185 NCI:C3032 NCI:C7480 SNOMEDCT_US_2016_03_01:126916003 SNOMEDCT_US_2016_03_01:363444001 SNOMEDCT_US_2016_03_01:93794008 UMLS_CUI:C0015558 UMLS_CUI:C0153579 fallopian tube neoplasm malignant neoplasm of uterine tube malignant tumor of fallopian tube (disorder) malignant tumour of fallopian tube neoplasm of fallopian tube (disorder) tumor of the fallopian tube tumor, fallopian tube, malignant disease_ontology DOID:1964 fallopian tube cancer A female reproductive organ cancer that is located_in fallopian tube. url:http://en.wikipedia.org/wiki/Fallopian_tube_cancer malignant neoplasm of uterine tube MTHICD9_2006:183.2 malignant tumor of fallopian tube (disorder) SNOMEDCT_2005_07_31:363444001 malignant tumour of fallopian tube SNOMEDCT_2005_07_31:93794008 neoplasm of fallopian tube (disorder) SNOMEDCT_2005_07_31:126916003 tumor of the fallopian tube NCI2004_11_17:C3032 tumor, fallopian tube, malignant NCI2004_11_17:C7480 NCI:C40128 UMLS_CUI:C1517116 disease_ontology DOID:1965 fallopian tube leiomyosarcoma disease_ontology DOID:1966 fallopian tube soft tissue neoplasm true A malignant smooth muscle cancer that can arise almost anywhere in the body, but is most common in the uterus, abdomen, or pelvis. MESH:D007890 NCI:C3158 SNOMEDCT_US_2016_03_01:189790006 SNOMEDCT_US_2016_03_01:443719001 SNOMEDCT_US_2016_03_01:51549004 UMLS_CUI:C0023269 Leiomyosarcomas disease_ontology DOID:1967 leiomyosarcoma A malignant smooth muscle cancer that can arise almost anywhere in the body, but is most common in the uterus, abdomen, or pelvis. url:http://www.cancer.gov/dictionary/?CdrID=46027 Leiomyosarcomas NCI2004_11_17:C3158 A brain disease that is caused by damage to the motor control centers of the developing brain during pregnancy, during childbirth or after birth, which affects muscle movement and balance. DOID:1968 CSP:0723-4729 ICD10CM:G80 ICD10CM:G80.9 ICD9CM:343.8 MESH:D002547 NCI:C34460 SNOMEDCT_US_2016_03_01:1178005 SNOMEDCT_US_2016_03_01:128188000 SNOMEDCT_US_2016_03_01:155024003 SNOMEDCT_US_2016_03_01:267696006 SNOMEDCT_US_2016_03_01:270488006 UMLS_CUI:C0007789 UMLS_CUI:C0029806 infantile cerebral palsy disease_ontology DOID:1969 cerebral palsy A brain disease that is caused by damage to the motor control centers of the developing brain during pregnancy, during childbirth or after birth, which affects muscle movement and balance. url:http://en.wikipedia.org/wiki/Cerebral_palsy url:http://www.brainandspinalcord.org/cerebral-palsy/index.html url:http://www.cerebralpalsy.org/what-is-cerebral-palsy/ glandular cell Epithelium neoplasm disease_ontology DOID:197 glandular cell epithelial neoplasm true glandular cell Epithelium neoplasm NCI2004_11_17:C7132 A fallopian tube cancer that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue. NCI:C40124 UMLS_CUI:C1517117 fallopian tube malignant mixed Mullerian tumor fallopian tube malignant mixed mesodermal (mullerian) tumor disease_ontology DOID:1970 fallopian tube carcinosarcoma A fallopian tube cancer that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue. url:http://en.wikipedia.org/wiki/Carcinosarcoma NCI:C40125 UMLS_CUI:C1517121 fallopian tube mullerian adenosarcoma disease_ontology DOID:1973 fallopian tube adenosarcoma A carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium. MESH:D018195 NCI:C9474 SNOMEDCT_US_2016_03_01:189804002 SNOMEDCT_US_2016_03_01:31470003 UMLS_CUI:C0001442 Adenosarcoma (morphologic abnormality) mullerian Adenosarcoma disease_ontology DOID:1974 adenosarcoma A carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium. url:http://en.wikipedia.org/wiki/Adenosarcoma url:http://medical-dictionary.thefreedictionary.com/adenosarcoma Adenosarcoma (morphologic abnormality) SNOMEDCT_2005_07_31:31470003 mullerian Adenosarcoma NCI2004_11_17:C9474 NCI:C6452 SNOMEDCT_US_2016_03_01:447137005 UMLS_CUI:C1336744 Thymolipoma disease_ontology DOID:1975 thymus lipoma Thymolipoma NCI2004_11_17:C6452 Lipoma of mediastinum disease_ontology DOID:1977 lipoma of the mediastinum true Lipoma of mediastinum NCI2004_11_17:C6599 Focal choroiditis and chorioretinitis, juxtapapillary Juxtapapillary focal choroiditis AND chorioretinitis (disorder) disease_ontology DOID:1978 juxtapapillary focal choroiditis and chorioretinitis true Focal choroiditis and chorioretinitis, juxtapapillary ICD9CM_2006:363.01 Juxtapapillary focal choroiditis AND chorioretinitis (disorder) SNOMEDCT_2005_07_31:6313001 ICD10CM:H30.0 ICD10CM:H30.00 ICD9CM:363.0 ICD9CM:363.00 SNOMEDCT_US_2016_03_01:15847003 SNOMEDCT_US_2016_03_01:193433002 SNOMEDCT_US_2016_03_01:193439003 SNOMEDCT_US_2016_03_01:359668007 SNOMEDCT_US_2016_03_01:458003 UMLS_CUI:C0154870 disease_ontology DOID:1979 focal chorioretinitis Mesonephric neoplasm Mesonephric neoplasm (morphology) Mesonephric tumor (morphologic abnormality) Wolffian duct tumour disease_ontology DOID:198 mesonephric tumor true Mesonephric neoplasm NCI2004_11_17:C4295 Mesonephric neoplasm (morphology) SNOMEDCT_2005_07_31:127577004 Mesonephric tumor (morphologic abnormality) SNOMEDCT_2005_07_31:189859003 Wolffian duct tumour SNOMEDCT_2005_07_31:13071008 A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Rhabdoviridae viruses. disease_ontology DOID:1982 Rhabdoviridae infectious disease true A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Rhabdoviridae viruses. url:http://en.wikipedia.org/wiki/Rhabdoviridae A (-)ssRNA virus infectious disease that results_in infection in humans, has_material_basis_in Mononegavirales viruses. disease_ontology DOID:1983 Mononegavirales infectious disease true A (-)ssRNA virus infectious disease that results_in infection in humans, has_material_basis_in Mononegavirales viruses. url:http://en.wikipedia.org/wiki/Mononegavirales MESH:D012004 NCI:C3350 SNOMEDCT_US_2016_03_01:126847008 UMLS_CUI:C0034885 Rectal tumor neoplasm of rectum (disorder) rectum neoplasm disease_ontology DOID:1984 rectal neoplasm Rectal tumor NCI2004_11_17:C3350 neoplasm of rectum (disorder) SNOMEDCT_2005_07_31:126847008 rectum neoplasm CSP2005:2010-1432 disease_ontology DOID:1986 perinatal disease true fetus disorder disease_ontology DOID:1987 fetal disease true fetus disorder CSP2005:2403-8856 NCI:C5553 UMLS_CUI:C1335685 Lymphoma of rectum disease_ontology DOID:1988 rectum lymphoma Lymphoma of rectum NCI2004_11_17:C5553 metastatic tumor to the rectum disease_ontology DOID:1990 metastasis to the rectum true metastatic tumor to the rectum NCI2004_11_17:C7426 metastatic tumor to the large Intestine secondary malignant neoplasm of large intestine (disorder) disease_ontology DOID:1991 metastases to large Intestine true metastatic tumor to the large Intestine NCI2004_11_17:C4581 secondary malignant neoplasm of large intestine (disorder) SNOMEDCT_2005_07_31:94365007 NCI:C4640 SNOMEDCT_US_2016_03_01:276822007 UMLS_CUI:C0349539 malignant melanoma of rectum (disorder) melanoma of rectum disease_ontology DOID:1992 rectum malignant melanoma malignant melanoma of rectum (disorder) SNOMEDCT_2005_07_31:276822007 melanoma of rectum NCI2004_11_17:C4640 A colorectal cancer that is located_in the rectum. DOID:1989 ICD10CM:C20 ICD9CM:154.1 MESH:D012004 NCI:C7418 NCI:C9382 SNOMEDCT_US_2016_03_01:154466004 SNOMEDCT_US_2016_03_01:187761007 SNOMEDCT_US_2016_03_01:254582000 SNOMEDCT_US_2016_03_01:269545009 SNOMEDCT_US_2016_03_01:363351006 SNOMEDCT_US_2016_03_01:93984006 UMLS_CUI:C0007113 UMLS_CUI:C0949022 carcinoma of rectum carcinoma of the rectum malignant Rectal tumor malignant neoplasm of rectum malignant rectum tumor malignant tumor of rectum (disorder) rectal cancer disease_ontology cancer of rectum DOID:1993 rectum cancer A colorectal cancer that is located_in the rectum. url:http://www.cancer.gov/dictionary?CdrID=529764 carcinoma of rectum SNOMEDCT_2005_07_31:187761007 carcinoma of rectum SNOMEDCT_2005_07_31:254582000 carcinoma of the rectum NCI2004_11_17:C9382 malignant Rectal tumor NCI2004_11_17:C7418 malignant neoplasm of rectum ICD9CM_2006:154.1 SNOMEDCT_2005_07_31:187761007 SNOMEDCT_2005_07_31:93984006 malignant tumor of rectum (disorder) SNOMEDCT_2005_07_31:363351006 A sarcoma and malignant tumor of rectum that is located_in the rectum. NCI:C5548 UMLS_CUI:C1335688 sarcoma of rectum disease_ontology DOID:1995 rectum sarcoma A sarcoma and malignant tumor of rectum that is located_in the rectum. url:http://www.searchmedica.com/search.html?q=sarcoma%20of%20the%20rectum&c=pc&ss= sarcoma of rectum NCI2004_11_17:C5548 A rectum cancer that derives_from epithelial cells of glandular origin. NCI:C9383 SNOMEDCT_US_2016_03_01:254582000 UMLS_CUI:C0149978 Rectal adenocarcinoma adenocarcinoma of rectum (disorder) disease_ontology adenocarcinoma of rectum DOID:1996 rectum adenocarcinoma A rectum cancer that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma Rectal adenocarcinoma NCI2004_11_17:C9383 adenocarcinoma of rectum (disorder) SNOMEDCT_2005_07_31:254582000 MESH:D008185 SNOMEDCT_US_2016_03_01:204319006 SNOMEDCT_US_2016_03_01:38842003 UMLS_CUI:C0024164 Lutembacher syndrome Lutembacher's anomaly disease_ontology DOID:1998 Lutembacher's syndrome Lutembacher's anomaly SNOMEDCT_2005_07_31:38842003 A otosalpingitis which is persistent and long-lasting. ICD10CM:H68.02 ICD10CM:H68.029 ICD9CM:381.52 SNOMEDCT_US_2016_03_01:16397004 SNOMEDCT_US_2016_03_01:194269002 UMLS_CUI:C0155430 chronic eustachian tube salpingitis disease_ontology DOID:1999 chronic eustachian salpingitis A otosalpingitis which is persistent and long-lasting. url:http://books.google.com/books?id=Z_z1R9SO8iMC&pg=PA258#v=onepage&q=&f=false chronic eustachian tube salpingitis SNOMEDCT_2005_07_31:194269002 MESH:D005870 NCI:C3055 NCI:C7069 SNOMEDCT_US_2016_03_01:115238001 SNOMEDCT_US_2016_03_01:134300001 SNOMEDCT_US_2016_03_01:189890001 SNOMEDCT_US_2016_03_01:189893004 SNOMEDCT_US_2016_03_01:443790001 UMLS_CUI:C0017525 Giant cell neoplasm Giant cell tumor (morphologic abnormality) Giant cell tumor (qualifier value) Giant cell tumor NOS (morphologic abnormality) Giant cell tumors (morphologic abnormality) tumor of the Giant cell disease_ontology Giant cell tumors DOID:200 giant cell tumor Giant cell neoplasm NCI2004_11_17:C7069 Giant cell tumor (morphologic abnormality) SNOMEDCT_2005_07_31:115238001 Giant cell tumor (qualifier value) SNOMEDCT_2005_07_31:134300001 Giant cell tumor NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189893004 Giant cell tumors (morphologic abnormality) SNOMEDCT_2005_07_31:189890001 tumor of the Giant cell NCI2004_11_17:C3055 A eustachian tube disorder which involves inflammation of the mucous membrane of the cartilagenous portion of the eustachian tube caused by acute nasopharyngitis, infection from some pathogenic microbes or trauma of the tube. ICD10CM:H68.0 ICD10CM:H68.00 ICD10CM:H68.009 ICD9CM:381.5 ICD9CM:381.50 SNOMEDCT_US_2016_03_01:194266009 SNOMEDCT_US_2016_03_01:194267000 SNOMEDCT_US_2016_03_01:194270001 SNOMEDCT_US_2016_03_01:270491006 SNOMEDCT_US_2016_03_01:35349000 UMLS_CUI:C0155428 Eustachian salpingitis Eustachian tube salpingitis disease_ontology DOID:2000 otosalpingitis A eustachian tube disorder which involves inflammation of the mucous membrane of the cartilagenous portion of the eustachian tube caused by acute nasopharyngitis, infection from some pathogenic microbes or trauma of the tube. url:http://books.google.com/books?id=Z_z1R9SO8iMC&pg=PA258#v=onepage&q=&f=false Eustachian salpingitis ICD9CM_2006:381.5 Eustachian tube salpingitis SNOMEDCT_2005_07_31:194266009 A nervous system benign neoplasm that is characterized as a nerve tissue tumor. MESH:D009463 NCI:C3275 SNOMEDCT_US_2016_03_01:154622009 SNOMEDCT_US_2016_03_01:189950003 SNOMEDCT_US_2016_03_01:25169009 SNOMEDCT_US_2016_03_01:274089002 SNOMEDCT_US_2016_03_01:443892003 UMLS_CUI:C0027858 disease_ontology DOID:2001 neuroma A nervous system benign neoplasm that is characterized as a nerve tissue tumor. url:http://en.wikipedia.org/wiki/Neuroma A pulmonary tuberculosis involving inflammation that causes extensive thickening of the walls of the trachea with luminal narrowing. Isolated tracheal or bronchial tuberculosis (disorder) Isolated tracheal or bronchial tuberculosis NOS (disorder) Isolated tracheal or bronchial tuberculosis, unspecified examination disease_ontology DOID:2005 tracheal tuberculosis true A pulmonary tuberculosis involving inflammation that causes extensive thickening of the walls of the trachea with luminal narrowing. url:http://ats.ctsnetjournals.org/cgi/content/full/82/5/1900 Isolated tracheal or bronchial tuberculosis (disorder) SNOMEDCT_2005_07_31:186188004 Isolated tracheal or bronchial tuberculosis NOS (disorder) SNOMEDCT_2005_07_31:186191004 Isolated tracheal or bronchial tuberculosis, unspecified examination ICD9CM_2006:012.20 ICD9CM:362.56 MESH:D019773 SNOMEDCT_US_2016_03_01:133853005 SNOMEDCT_US_2016_03_01:193391002 SNOMEDCT_US_2016_03_01:367649002 SNOMEDCT_US_2016_03_01:53428005 SNOMEDCT_US_2016_03_01:55991001 UMLS_CUI:C0339543 Macular puckering of retina Macular retinal puckering cellophane maculopathy disease_ontology DOID:2006 preretinal fibrosis Macular puckering of retina ICD9CM_2006:362.56 Macular retinal puckering SNOMEDCT_2005_07_31:53428005 cellophane maculopathy SNOMEDCT_2005_07_31:367649002 ICD10CM:H35.3 ICD9CM:362.5 SNOMEDCT_US_2016_03_01:193384000 SNOMEDCT_US_2016_03_01:193392009 SNOMEDCT_US_2016_03_01:267611002 UMLS_CUI:C0339436 degeneration of macula and posterior pole of retina degeneration of macula or posterior pole disease_ontology DOID:2007 degeneration of macula and posterior pole degeneration of macula and posterior pole of retina ICD9CM_2006:362.5 degeneration of macula or posterior pole SNOMEDCT_2005_07_31:193392009 A musculoskeletal system cancer that is located_in connective tissue. MESH:D009372 SNOMEDCT_US_2016_03_01:126598008 SNOMEDCT_US_2016_03_01:254821003 UMLS_CUI:C0027656 Tumour of connective tissue connective tissue neoplasm neoplasm of connective tissues disease_ontology DOID:201 connective tissue cancer A musculoskeletal system cancer that is located_in connective tissue. url:http://en.wikipedia.org/wiki/Connective_tissue Tumour of connective tissue SNOMEDCT_2005_07_31:254821003 connective tissue neoplasm CSP2005:2008-3809 neoplasm of connective tissues SNOMEDCT_2005_07_31:126598008 Impaired mobility of ear ossicles, except malleus (disorder) Impaired mobility of other ear ossicles disease_ontology DOID:2010 impaired mobility of ear ossicles except malleus true Impaired mobility of ear ossicles, except malleus (disorder) SNOMEDCT_2005_07_31:25952008 Impaired mobility of other ear ossicles ICD9CM_2006:385.22 ICD10CM:D81.4 ICD9CM:279.13 MESH:C536288 OMIM:242700 SNOMEDCT_US_2016_03_01:55602000 UMLS_CUI:C0152094 Nezelof's syndrome Nezelof's syndrome (disorder) T-lymphocyte deficiency disease_ontology DOID:2012 OMIM mapping confirmed by DO. [SN]. Nezelof syndrome Nezelof's syndrome ICD9CM_2006:279.13 Nezelof's syndrome (disorder) SNOMEDCT_2005_07_31:55602000 disease_ontology DOID:2014 perinatal digestive system disorder true ICD10CM:E16.1 MESH:D006946 NCI:C113104 SNOMEDCT_US_2016_03_01:124860004 SNOMEDCT_US_2016_03_01:131103005 SNOMEDCT_US_2016_03_01:154694003 SNOMEDCT_US_2016_03_01:267477002 SNOMEDCT_US_2016_03_01:83469008 UMLS_CUI:C0020459 hyperinsulinemia disease_ontology DOID:2018 hyperinsulinism hyperinsulinemia CSP2005:2204-2400 DOID:2023 ICD10CM:C58 ICD9CM:181 NCI:C3555 SNOMEDCT_US_2016_03_01:188187004 SNOMEDCT_US_2016_03_01:449421003 UMLS_CUI:C0153572 Placental tumors malignant Placental tumor malignant neoplasm of placenta neoplasm of placenta (disorder) placental cancer primary malignant neoplasm of placenta disease_ontology DOID:2021 placenta cancer Placental tumors NCI2004_11_17:C4858 malignant Placental tumor NCI2004_11_17:C3555 malignant neoplasm of placenta ICD9CM_2006:181 SNOMEDCT_2005_07_31:188187004 neoplasm of placenta (disorder) SNOMEDCT_2005_07_31:126920004 placental cancer CSP2005:2403-0590 primary malignant neoplasm of placenta SNOMEDCT_2005_07_31:93965008 metastatic tumor to the Placenta disease_ontology DOID:2022 metastatic neoplasm to the placenta true metastatic tumor to the Placenta NCI2004_11_17:C8546 NCI:C8893 SNOMEDCT_US_2016_03_01:448401007 UMLS_CUI:C0855173 Choriocarcinoma of the Placenta disease_ontology DOID:2024 placental choriocarcinoma Choriocarcinoma of the Placenta NCI2004_11_17:C8893 NCI:C4646 SNOMEDCT_US_2016_03_01:1884006 SNOMEDCT_US_2016_03_01:417057000 SNOMEDCT_US_2016_03_01:417570003 UMLS_CUI:C0349557 Gestational choriocarcinoma (morphologic abnormality) Gestational chorionepithelioma Molar pregnancy with choriocarcinoma (disorder) disease_ontology DOID:2025 gestational choriocarcinoma Gestational choriocarcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:417057000 Gestational chorionepithelioma SNOMEDCT_2005_07_31:417570003 Molar pregnancy with choriocarcinoma (disorder) SNOMEDCT_2005_07_31:1884006 disease_ontology DOID:2027 fetal or neonatal hemorrhage true A hyperostosis that involves formation of new bone on the surface of preexisting bone. ICD10CM:M27.8 ICD9CM:726.91 MESH:D005096 NCI:C3029 SNOMEDCT_US_2016_03_01:156665008 SNOMEDCT_US_2016_03_01:202894007 SNOMEDCT_US_2016_03_01:267997004 SNOMEDCT_US_2016_03_01:268091003 SNOMEDCT_US_2016_03_01:416189003 SNOMEDCT_US_2016_03_01:80400009 UMLS_CUI:C1442903 bone spur bony outgrowth orbital exostosis osteophyte swimmer's exostosis disease_ontology DOID:203 exostosis A hyperostosis that involves formation of new bone on the surface of preexisting bone. url:http://en.wikipedia.org/wiki/Exostosis url:http://medical-dictionary.thefreedictionary.com/exostosis bone spur NCI2004_11_17:C3029 bony outgrowth SNOMEDCT_2005_07_31:80400009 osteophyte SNOMEDCT_2005_07_31:393603002 A cognitive disorder that involves an excessive, irrational dread of everyday situations. DOID:12884 ICD10CM:F41.9 ICD9CM:300.09 MESH:D001008 NCI:C2878 OMIM:607834 SNOMEDCT_US_2016_03_01:191703000 SNOMEDCT_US_2016_03_01:192405006 SNOMEDCT_US_2016_03_01:197480006 SNOMEDCT_US_2016_03_01:65673007 UMLS_CUI:C0003469 UMLS_CUI:C0154455 anxiety anxiety state disease_ontology DOID:2030 anxiety disorder A cognitive disorder that involves an excessive, irrational dread of everyday situations. url:http://www.nimh.nih.gov/health/topics/anxiety-disorders/index.shtml A specific developmental disorder that involves specific developmental disorders of speech and language. ICD10CM:F80.9 MESH:D003147 NCI:C2958 SNOMEDCT_US_2016_03_01:278919001 SNOMEDCT_US_2016_03_01:74825008 UMLS_CUI:C0009460 disease_ontology DOID:2033 communication disorder A specific developmental disorder that involves specific developmental disorders of speech and language. url:http://en.wikipedia.org/wiki/Communication_disorder MESH:D004678 NCI:C98920 SNOMEDCT_US_2016_03_01:58762006 UMLS_CUI:C0014068 disease_ontology DOID:2034 encephalomalacia disease_ontology DOID:2038 urogenital abnormality true ICD10CM:M77.9 ICD9CM:726.9 ICD9CM:726.90 MESH:D012216 SNOMEDCT_US_2016_03_01:202890003 SNOMEDCT_US_2016_03_01:23680005 SNOMEDCT_US_2016_03_01:278525009 UMLS_CUI:C0242490 disease_ontology DOID:204 enthesopathy A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus, which is transmitted_by sexual contact, transmitted_by blood transfusions, and transmitted_by fomites like needles or syringes. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice. DOID:12591 DOID:12592 DOID:2042 EFO:0004197 MESH:D006509 MESH:D019694 NCI:C3097 SNOMEDCT_US_2016_03_01:154348008 SNOMEDCT_US_2016_03_01:186625003 SNOMEDCT_US_2016_03_01:266195001 SNOMEDCT_US_2016_03_01:66071002 UMLS_CUI:C0019163 chronic hepatitis B hepatitis B infection disease_ontology Serum hepatitis DOID:2043 hepatitis B A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus, which is transmitted_by sexual contact, transmitted_by blood transfusions, and transmitted_by fomites like needles or syringes. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice. url:http://en.wikipedia.org/wiki/Hepatitis_B#Transmission url:http://www.cdc.gov/hepatitis/HBV/index.htm url:http://www.cdc.gov/hepatitis/Resources/Professionals/PDFs/ABCTable.pdf Serum hepatitis MTHICD9_2006:070.3 MESH:D056487 SNOMEDCT_US_2016_03_01:235889003 UMLS_CUI:C0524912 Drug-induced chronic hepatitis (disorder) disease_ontology DOID:2044 drug-induced hepatitis Drug-induced chronic hepatitis (disorder) SNOMEDCT_2005_07_31:235889003 A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis delta virus, which is an incomplete virus that requires the helper function of Hepatitis B virus to replicate and only occurs among people who are infected with the Hepatitis B virus. The infection has_symptom fatigue, has_symptom lethargy, has_symptom anorexia, has_symptom nausea, has_symptom jaundice, has_symptom clay-colored stools, has_symptom dark urine, has_symptom changes in personality, has_symptom disturbances in sleep, has_symptom confusion, has_symptom abnormal behavior, has_symptom somnolence, and has_symptom coma. DOID:2046 MESH:D003699 SNOMEDCT_US_2016_03_01:424460009 SNOMEDCT_US_2016_03_01:707341005 UMLS_CUI:C0011226 delta hepatitis disease_ontology DOID:2047 hepatitis D A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis delta virus, which is an incomplete virus that requires the helper function of Hepatitis B virus to replicate and only occurs among people who are infected with the Hepatitis B virus. The infection has_symptom fatigue, has_symptom lethargy, has_symptom anorexia, has_symptom nausea, has_symptom jaundice, has_symptom clay-colored stools, has_symptom dark urine, has_symptom changes in personality, has_symptom disturbances in sleep, has_symptom confusion, has_symptom abnormal behavior, has_symptom somnolence, and has_symptom coma. url:http://www.cdc.gov/hepatitis/HDV/index.htm url:http://www.who.int/csr/disease/hepatitis/whocdscsrncs20011/en/index3.html delta hepatitis CSP2005:1754-6994 An autoimmune disease of gastrointestinal tract that results_in inflammation located_in liver caused by the body's immune system attacking the liver cells. DOID:4745 ICD10CM:K75.4 ICD9CM:571.42 MESH:D019693 NCI:C27029 NCI:C27778 SNOMEDCT_US_2016_03_01:197284004 SNOMEDCT_US_2016_03_01:408335007 SNOMEDCT_US_2016_03_01:68784009 UMLS_CUI:C0241910 UMLS_CUI:C1332355 Autoimmune Hepatitis Autoimmune chronic active hepatitis Autoimmune hepatitis Autoimmune hepatitis (disorder) autoimmune hepatitis with centrilobular necrosis disease_ontology DOID:2048 autoimmune hepatitis An autoimmune disease of gastrointestinal tract that results_in inflammation located_in liver caused by the body's immune system attacking the liver cells. sn:IEDB url:http://en.wikipedia.org/wiki/Autoimmune_hepatitis Autoimmune Hepatitis NCI2004_11_17:C27029 Autoimmune chronic active hepatitis SNOMEDCT_2005_07_31:197284004 Autoimmune hepatitis SNOMEDCT_2005_07_31:68784009 Autoimmune hepatitis (disorder) SNOMEDCT_2005_07_31:408335007 A bone remodeling disease that results in an abnormal growth of located_in bone. ICD10CM:M89.3 ICD10CM:M89.30 MESH:D015576 NCI:C34712 SNOMEDCT_US_2016_03_01:13814009 SNOMEDCT_US_2016_03_01:203514008 UMLS_CUI:C0020492 bone hypertrophy hypertrophy of bone hypertrophy of bone (disorder) hypertrophy of bone (morphologic abnormality) disease_ontology DOID:205 hyperostosis A bone remodeling disease that results in an abnormal growth of located_in bone. url:http://en.wikipedia.org/wiki/Hyperostosis url:http://www.medcyclopaedia.com/library/topics/volume_iii_1/h/hyperostosis.aspx url:http://www.medterms.com/script/main/art.asp?articlekey=3842 bone hypertrophy NCI2004_11_17:C34712 hypertrophy of bone MTHICD9_2006:733.99 hypertrophy of bone (disorder) SNOMEDCT_2005_07_31:203514008 hypertrophy of bone (morphologic abnormality) SNOMEDCT_2005_07_31:13814009 A maxillary sinusitis which lasts for less than 4 weeks. ICD10CM:J01.0 ICD10CM:J01.00 ICD9CM:461.0 SNOMEDCT_US_2016_03_01:155499007 SNOMEDCT_US_2016_03_01:18714001 SNOMEDCT_US_2016_03_01:68272006 UMLS_CUI:C0155804 acute antritis disease_ontology DOID:2050 acute maxillary sinusitis A maxillary sinusitis which lasts for less than 4 weeks. url:http://en.wikipedia.org/wiki/sinusitis url:http://www.merck.com/mmhe/sec19/ch221/ch221i.html url:http://www3.niaid.nih.gov/topics/sinusitis/overview.htm A sinusitis which involves infection of maxillary sinuses that causes pain or pressure over the cheeks just below the eyes, tooth ache, and headache. ICD10CM:J32.0 MESH:D015523 NCI:C34809 SNOMEDCT_US_2016_03_01:275484005 SNOMEDCT_US_2016_03_01:88348008 UMLS_CUI:C0024959 disease_ontology DOID:2051 maxillary sinusitis A sinusitis which involves infection of maxillary sinuses that causes pain or pressure over the cheeks just below the eyes, tooth ache, and headache. url:http://en.wikipedia.org/wiki/sinusitis url:http://www.merck.com/mmhe/sec19/ch221/ch221i.html url:http://www3.niaid.nih.gov/topics/sinusitis/overview.htm NCI:C27549 UMLS_CUI:C1335666 disease_ontology DOID:2053 reactive cutaneous fibrous lesion An anxiety disorder which results from a traumatic experience that results in psychological trauma. ICD10CM:F43.1 ICD10CM:F43.10 ICD9CM:309.81 MESH:D013313 NCI:C3389 SNOMEDCT_US_2016_03_01:192415000 SNOMEDCT_US_2016_03_01:47505003 UMLS_CUI:C0038436 traumatic neurosis disease_ontology post-traumatic stress disorder DOID:2055 post-traumatic stress disorder An anxiety disorder which results from a traumatic experience that results in psychological trauma. url:http://en.wikipedia.org/wiki/Post-traumatic_stress_disorder traumatic neurosis CSP2005:4000-0295 A candidiasis that refers to a heterogeneous group of disorders characterized by recurrent or persistent superficial fungal infections located_in skin, located_in mucous membrane, or located_in nail due to T-cell defects, has-agent Candida species and has_symptom scaling of skin lesions, has_symptom thickening of nails, has_symptom swollen periungal tissue, and has_symptom scarring of the scalp. DOID:2056 MESH:D002178 NCI:C34444 OMIM:114580 OMIM:212050 OMIM:607644 OMIM:613108 OMIM:613953 OMIM:613956 OMIM:614162 OMIM:615527 OMIM:616445 ORDO:1334 SNOMEDCT_US_2016_03_01:234568006 UMLS_CUI:C0006845 chronic Mucocutaneous Candidiasis disease_ontology DOID:2058 chronic mucocutaneous candidiasis A candidiasis that refers to a heterogeneous group of disorders characterized by recurrent or persistent superficial fungal infections located_in skin, located_in mucous membrane, or located_in nail due to T-cell defects, has-agent Candida species and has_symptom scaling of skin lesions, has_symptom thickening of nails, has_symptom swollen periungal tissue, and has_symptom scarring of the scalp. url:http://emedicine.medscape.com/article/1091928-overview url:http://www.merck.com/mmpe/sec13/ch164/ch164f.html?qt=Chronic%20mucocutaneous%20candidiasis&alt=sh chronic Mucocutaneous Candidiasis NCI2004_11_17:C34444 MESH:D014845 NCI:C27631 SNOMEDCT_US_2016_03_01:5089007 UMLS_CUI:C0042994 disease_ontology DOID:2059 vulvar disease An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results_in multiple bony spurs throughout a child's growth. ICD10CM:Q78.6 MESH:D005097 NCI:C5183 OMIM:133700 OMIM:133701 OMIM:600209 ORDO:321 SNOMEDCT_US_2016_03_01:16535008 SNOMEDCT_US_2016_03_01:205479007 SNOMEDCT_US_2016_03_01:240186007 SNOMEDCT_US_2016_03_01:254044004 SNOMEDCT_US_2016_03_01:84852005 UMLS_CUI:C0015306 Multiple congenital exostosis Multiple exostosis syndromes Osteochondromatosis syndrome (disorder) [Ambiguous] hereditary multiple exostoses 1 hereditary multiple exostoses 2 hereditary multiple exostoses 3 multiple ostechondromas disease_ontology DOID:206 OMIM mapping confirmed by DO. [SN]. hereditary multiple exostoses An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results_in multiple bony spurs throughout a child's growth. url:http://atlasgeneticsoncology.org/Kprones/HeredMultExostosID10061.html url:http://en.wikipedia.org/wiki/Hereditary_multiple_exostoses url:http://ghr.nlm.nih.gov/condition/hereditary-multiple-exostoses url:http://www.mheresearchfoundation.org/ url:http://www.wheelessonline.com/ortho/multiple_cartilaginous_exostoses_hereditary_exostosis Multiple congenital exostosis SNOMEDCT_2005_07_31:205479007 Multiple exostosis syndromes SNOMEDCT_2005_07_31:240186007 Osteochondromatosis syndrome (disorder) [Ambiguous] SNOMEDCT_2005_07_31:16535008 NCI:C40312 UMLS_CUI:C1520091 disease_ontology DOID:2060 vulvar nodular hidradenoma disease_ontology Eccrine nodular hidradenoma nodular hidradenoma DOID:2061 nodular hidradenoma Eccrine nodular hidradenoma SNOMEDCT_2005_07_31:254719003 nodular hidradenoma MTH:NOCODE disease_ontology DOID:2062 vulvar tumor of skin appendage origin true NCI:C40311 UMLS_CUI:C1520099 disease_ontology DOID:2064 vulvar syringoma MESH:D018252 NCI:C3761 SNOMEDCT_US_2016_03_01:134158007 SNOMEDCT_US_2016_03_01:189051001 SNOMEDCT_US_2016_03_01:302828001 SNOMEDCT_US_2016_03_01:71244007 UMLS_CUI:C0206673 disease_ontology DOID:2065 syringoma NCI:C8596 SNOMEDCT_US_2016_03_01:402841001 UMLS_CUI:C1274281 Fordyce angiokeratoma of vulva disease_ontology DOID:2066 vulvar angiokeratoma Fordyce angiokeratoma of vulva SNOMEDCT_2005_07_31:402841001 NCI:C6434 UMLS_CUI:C0220616 Bartholin gland neoplasm tumor of Bartholin's gland disease_ontology DOID:2068 Bartholin's gland benign neoplasm tumor of Bartholin's gland NCI2004_11_17:C6434 disease_ontology DOID:2069 vulvar acquired melanocytic nevus true disease_ontology DOID:2070 vulvar melanocytic neoplasm true NCI:C6376 UMLS_CUI:C1336982 disease_ontology DOID:2071 vulvar squamous papilloma NCI:C40283 UMLS_CUI:C1520097 disease_ontology DOID:2072 vulvar squamous tumor ICD10CM:P78.0 ICD9CM:777.6 SNOMEDCT_US_2016_03_01:206526009 SNOMEDCT_US_2016_03_01:65390006 UMLS_CUI:C0159006 Perinatal intestinal perforation (disorder) disease_ontology DOID:2073 perinatal intestinal perforation Perinatal intestinal perforation (disorder) SNOMEDCT_2005_07_31:65390006 ICD9CM:569.83 MESH:D007416 NCI:C39611 SNOMEDCT_US_2016_03_01:56905009 UMLS_CUI:C0021845 Perforation of intestine disease_ontology DOID:2074 intestinal perforation Perforation of intestine ICD9CM_2006:569.83 NCI:C40301 UMLS_CUI:C1510791 disease_ontology adenoma of minor vestibular glands DOID:2075 minor vestibular glands adenoma NCI:C40292 UMLS_CUI:C1520082 disease_ontology DOID:2076 vulvar glandular tumor disease_ontology DOID:2077 vulvar congenital melanocytic nevus true NCI:C40302 UMLS_CUI:C1511091 disease_ontology DOID:2078 chondroid syringoma of the vulva NCI:C4474 SNOMEDCT_US_2016_03_01:254720009 SNOMEDCT_US_2016_03_01:400144002 UMLS_CUI:C0346026 Eccrine mixed tumor (disorder) Eccrine mixed tumor (morphologic abnormality) mixed Eccrine neoplasm of the skin disease_ontology DOID:2079 eccrine mixed tumor of skin Eccrine mixed tumor (disorder) SNOMEDCT_2005_07_31:254720009 Eccrine mixed tumor (morphologic abnormality) SNOMEDCT_2005_07_31:400144002 mixed Eccrine neoplasm of the skin NCI2004_11_17:C4474 Familiar neoplastic syndrome disease_ontology DOID:208 hereditary neoplastic syndrome true Familiar neoplastic syndrome NCI2004_11_17:C3266 NCI:C40314 UMLS_CUI:C1520100 disease_ontology DOID:2080 vulvar trichoepithelioma disease_ontology DOID:2083 vulvar soft tissue tumor true disease_ontology DOID:2085 vulvar blue nevus true Blue naevus Blue nevus (morphologic abnormality) Blue nevus NOS (morphologic abnormality) Blue nevus of skin (disorder) Blue skin nevus disease_ontology DOID:2086 blue nevus true Blue naevus SNOMEDCT_2005_07_31:189051001 Blue nevus (morphologic abnormality) SNOMEDCT_2005_07_31:63166000 Blue nevus NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189757006 Blue nevus of skin (disorder) SNOMEDCT_2005_07_31:254806009 Blue skin nevus NCI2004_11_17:C3803 ICD10CM:K59.02 ICD9CM:564.02 UMLS_CUI:C0949134 disease_ontology DOID:2088 outlet dysfunction constipation A bowel dysfunction that is characterized by infrequent or difficult evacuation of feces. ICD10CM:K59.0 ICD10CM:K59.00 ICD9CM:564.0 ICD9CM:564.00 MESH:D003248 NCI:C37930 SNOMEDCT_US_2016_03_01:139356000 SNOMEDCT_US_2016_03_01:139358004 SNOMEDCT_US_2016_03_01:139359007 SNOMEDCT_US_2016_03_01:14760008 SNOMEDCT_US_2016_03_01:162080004 SNOMEDCT_US_2016_03_01:162082007 SNOMEDCT_US_2016_03_01:162083002 SNOMEDCT_US_2016_03_01:197123003 SNOMEDCT_US_2016_03_01:363693003 UMLS_CUI:C0009806 disease_ontology DOID:2089 constipation A bowel dysfunction that is characterized by infrequent or difficult evacuation of feces. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=19647687 url:https://en.wikipedia.org/wiki/Constipation ICD10CM:M12.8 ICD9CM:716.4 ICD9CM:716.40 NCI:C35761 SNOMEDCT_US_2016_03_01:201987005 SNOMEDCT_US_2016_03_01:202019004 SNOMEDCT_US_2016_03_01:66191007 UMLS_CUI:C0152083 disease_ontology DOID:2092 transient arthritis NCI:C40329 SNOMEDCT_US_2016_03_01:254896002 UMLS_CUI:C0241989 malignant melanoma of vulva (disorder) disease_ontology DOID:2093 vulvar melanoma malignant melanoma of vulva (disorder) SNOMEDCT_2005_07_31:254896002 disease_ontology DOID:2094 vulvar sweat gland cancer true ICD10CM:C44 NCI:C4810 SNOMEDCT_US_2016_03_01:188083002 SNOMEDCT_US_2016_03_01:255095005 SNOMEDCT_US_2016_03_01:32272007 SNOMEDCT_US_2016_03_01:359719004 UMLS_CUI:C1321904 malignant neoplasm of sweat gland malignant tumor of the Sweat gland disease_ontology DOID:2095 sweat gland cancer malignant tumor of the Sweat gland NCI2004_11_17:C4810 NCI:C40317 SNOMEDCT_US_2016_03_01:254897006 UMLS_CUI:C0238525 sarcoma of vulva (disorder) disease_ontology DOID:2096 vulvar sarcoma sarcoma of vulva (disorder) SNOMEDCT_2005_07_31:254897006 NCI:C4027 SNOMEDCT_US_2016_03_01:254898001 SNOMEDCT_US_2016_03_01:403948004 UMLS_CUI:C1275217 Paget's disease of vulva (disorder) Vulval Paget's disease (disorder) Vulvar Paget's disease vulval Paget disease disease_ontology DOID:2097 vulval Paget's disease Paget's disease of vulva (disorder) SNOMEDCT_2005_07_31:254898001 Vulval Paget's disease (disorder) SNOMEDCT_2005_07_31:403948004 Vulvar Paget's disease NCI2004_11_17:C4027 A vulva carcinoma that derives_from epithelial cells of glandular origin. NCI:C6380 UMLS_CUI:C1336975 adenocarcinoma of Vulva disease_ontology adenocarcinoma of the vulva DOID:2098 vulva adenocarcinoma A vulva carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma adenocarcinoma of Vulva NCI2004_11_17:C6380 Extramammary Paget's disease (morphologic abnormality) Paget's disease, extramammary, excluding Paget's disease of bone (morphologic abnormality) extramammary Paget disease disease_ontology DOID:2099 OMIM mapping confirmed by DO. [SN]. extramammary Paget's disease true Extramammary Paget's disease (morphologic abnormality) SNOMEDCT_2005_07_31:302830004 Paget's disease, extramammary, excluding Paget's disease of bone (morphologic abnormality) SNOMEDCT_2005_07_31:71447003 An exostosis that results_in an abnormal growth located_in calcaneus. ICD10CM:M77.3 ICD10CM:M77.30 ICD9CM:726.73 MESH:D036982 SNOMEDCT_US_2016_03_01:156663001 SNOMEDCT_US_2016_03_01:268090002 SNOMEDCT_US_2016_03_01:55260003 UMLS_CUI:C0158322 disease_ontology Calcaneal spur DOID:210 heel spur An exostosis that results_in an abnormal growth located_in calcaneus. url:http://en.wikipedia.org/wiki/Calcaneal_spur url:http://www.medterms.com/script/main/art.asp?articlekey=7094 Calcaneal spur ICD9CM_2006:726.73 disease_ontology DOID:2100 vulvar metastasis true A vulva carcinoma and has_material_basis_in squamous cells and is located_in the epidermis of the vulvar tissue. NCI:C4052 SNOMEDCT_US_2016_03_01:254895003 UMLS_CUI:C0280856 Vulvar Epidermoid carcinoma vulvar squamous cell carcinoma disease_ontology squamous cell carcinoma of vulva DOID:2101 vulva squamous cell carcinoma A vulva carcinoma and has_material_basis_in squamous cells and is located_in the epidermis of the vulvar tissue. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma url:http://en.wikipedia.org/wiki/Vulvar_cancer#Squamous_cell_carcinoma Vulvar Epidermoid carcinoma NCI2004_11_17:C4052 A muscle tissue disease that is characterised by slow muscle relaxation associated with hyperexcitation of the muscle fibres. ICD9CM:359.22 MESH:D009224 NCI:C84912 OMIM:160800 OMIM:255700 ORDO:614 UMLS_CUI:C0027127 Congenital myotonia, autosomal dominant form (disorder) Thomsen disease Thomsen's disease disease_ontology DOID:2106 OMIM mapping confirmed by DO. [SN]. myotonia congenita A muscle tissue disease that is characterised by slow muscle relaxation associated with hyperexcitation of the muscle fibres. url:http://rarediseases.org/rare-diseases/myotonia-congenita/ url:http://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=614 Congenital myotonia, autosomal dominant form (disorder) SNOMEDCT_2005_07_31:57938005 Thomsen's disease CSP2005:1849-6776 An immune system disease that is related to the transplantation of cells, tissues and/or whole organs from one individual to another. disease_ontology DOID:2108 transplant-related disease true An immune system disease that is related to the transplantation of cells, tissues and/or whole organs from one individual to another. ls:IEDB disease_ontology DOID:211 Ankle or tarsus enthesopathy true A coccidiosis that involves infection of the epithelial cells of the small intestine with Cystoisospora belli, which results in nonbloody diarrhea with crampy abdominal pain, malabsorption and weight loss. DOID:4891 ICD10CM:A07.3 MESH:D021865 NCI:C4076 SNOMEDCT_US_2016_03_01:240373006 SNOMEDCT_US_2016_03_01:360427001 SNOMEDCT_US_2016_03_01:371423007 SNOMEDCT_US_2016_03_01:73034009 UMLS_CUI:C0311386 Infection by Isospora belli and Isospora hominis Isosporosis isosporiasis disease_ontology DOID:2112 cystoisosporiasis A coccidiosis that involves infection of the epithelial cells of the small intestine with Cystoisospora belli, which results in nonbloody diarrhea with crampy abdominal pain, malabsorption and weight loss. url:http://www.dpd.cdc.gov/DPDx/HTML/Cystoisosporiasis.htm Infection by Isospora belli and Isospora hominis MTHICD9_2006:007.2 Isosporosis SNOMEDCT_2005_07_31:240373006 A parasitic protozoa infectious disease that occurs in the intestinal tract of animals and humans caused by Coccidia protozoa. Immunocompromised persons are at greater risk of developing the infection. MESH:D003048 NCI:C34493 SNOMEDCT_US_2016_03_01:186125004 SNOMEDCT_US_2016_03_01:62005008 UMLS_CUI:C0009187 Coccidiosis (& [intestinal]) disease_ontology intestinal coccidiosis DOID:2113 coccidiosis A parasitic protozoa infectious disease that occurs in the intestinal tract of animals and humans caused by Coccidia protozoa. Immunocompromised persons are at greater risk of developing the infection. url:http://en.wikipedia.org/wiki/Coccidiosis Coccidiosis (& [intestinal]) SNOMEDCT_2005_07_31:186125004 A primary immunnodeficiency disease that is caused by a lack of infection-fighting antibody producing B cells (immunoglobulins) or B cells that are not functioning properly. DOID:6026 ICD9CM:279.03 SNOMEDCT_US_2016_03_01:190982008 UMLS_CUI:C0154276 B cell (antibody) deficiencies Immunoglobulin heavy chain deficiency (disorder) immunoglobulin heavy chain deletion disease_ontology DOID:2115 B cell deficiency A primary immunnodeficiency disease that is caused by a lack of infection-fighting antibody producing B cells (immunoglobulins) or B cells that are not functioning properly. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2601718/pdf/nihms57213.pdf url:http://www.nichd.nih.gov/publications/pubs/primary_immuno.cfm#WhatisPrimaryImmunodeficiency Immunoglobulin heavy chain deficiency (disorder) SNOMEDCT_2005_07_31:234539005 MESH:D005489 NCI:C84715 OMIM:305600 SNOMEDCT_US_2016_03_01:205573006 SNOMEDCT_US_2016_03_01:2298005 UMLS_CUI:C0016395 Goltz syndrome disease_ontology DOID:2120 OMIM mapping confirmed by DO. [SN]. focal dermal hypoplasia Goltz syndrome CSP2005:0726-8244 Congenital ectodermal defect Congenital ectodermal defect (disorder) Congenital ectodermal dysplasia Ectodermal dysplasia (disorder) disease_ontology DOID:2121 ectodermal dysplasia true Congenital ectodermal defect SNOMEDCT_2005_07_31:205610005 Congenital ectodermal defect (disorder) SNOMEDCT_2005_07_31:254154003 Congenital ectodermal dysplasia ICD9CM_2006:757.31 Ectodermal dysplasia (disorder) SNOMEDCT_2005_07_31:8654005 A tularemia that is located_in lungs. The bacteria are transmitted_by breathing dusts or aerosols containing the organisms. The infection has_symptom cough, has_symptom chest has_symptom pain, and has_symptom difficulty breathing. ICD10CM:A21.2 ICD9CM:021.2 SNOMEDCT_US_2016_03_01:186297007 SNOMEDCT_US_2016_03_01:45556008 UMLS_CUI:C0339946 Pneumonic tularaemia bronchopneumonic tularemia pulmonary tularemia pulmonary tularemia [dup] (disorder) disease_ontology DOID:2122 pneumonic tularemia A tularemia that is located_in lungs. The bacteria are transmitted_by breathing dusts or aerosols containing the organisms. The infection has_symptom cough, has_symptom chest has_symptom pain, and has_symptom difficulty breathing. url:http://www.cdc.gov/tularemia/signssymptoms/ Pneumonic tularaemia SNOMEDCT_2005_07_31:45556008 pulmonary tularemia ICD9CM_2006:021.2 pulmonary tularemia [dup] (disorder) SNOMEDCT_2005_07_31:186297007 A primary bacterial infectious disease that has_material_basis_in Francisella tularensis, which is transmitted_by dog tick bite (Dermacentor variabilis), transmitted_by deer flies (Chrysops sp) or transmitted_by contact with infected animal tissues. ICD9CM:021.8 MESH:D014406 SNOMEDCT_US_2016_03_01:111834003 SNOMEDCT_US_2016_03_01:186298002 SNOMEDCT_US_2016_03_01:186299005 UMLS_CUI:C0029835 disease_ontology DOID:2123 tularemia A primary bacterial infectious disease that has_material_basis_in Francisella tularensis, which is transmitted_by dog tick bite (Dermacentor variabilis), transmitted_by deer flies (Chrysops sp) or transmitted_by contact with infected animal tissues. url:http://www.cdc.gov/tularemia/index.html DOID:1320 intracranial central nervous system tumors intracranial tumor (disorder) intracranial tumors, malignant malignant intracranial neoplasm disease_ontology DOID:2124 intracranial neoplasm true intracranial central nervous system tumors NCI2004_11_17:C4953 intracranial tumor (disorder) SNOMEDCT_2005_07_31:254935002 intracranial tumors, malignant NCI2004_11_17:C5114 NCI:C6284 UMLS_CUI:C1332606 germinoma of the brain intracranial germinoma disease_ontology DOID:2127 brain germinoma germinoma of the brain NCI2004_11_17:C6284 disease_ontology DOID:2128 intracranial germinoma true A brain cancer that is usually located in the brain, but can occur anywhere in the central nervous system. NCI:C6906 OMIM:609322 SNOMEDCT_US_2016_03_01:128792003 UMLS_CUI:C1266184 Atypical teratoid/rhabdoid tumor (morphologic abnormality) Rhabdoid tumor of the CNS disease_ontology AT/RT rhabdoid tumor predisposition syndrome DOID:2129 OMIM mapping confirmed by DO. [SN]. atypical teratoid rhabdoid tumor A brain cancer that is usually located in the brain, but can occur anywhere in the central nervous system. url:http://en.wikipedia.org/wiki/Atypical_teratoid_rhabdoid_tumor Atypical teratoid/rhabdoid tumor (morphologic abnormality) SNOMEDCT_2005_07_31:128792003 Rhabdoid tumor of the CNS NCI2004_11_17:C6906 malignant pediatric tumor of CNS disease_ontology DOID:2131 childhood malignant central nervous system neoplasm true malignant pediatric tumor of CNS NCI2004_11_17:C5448 NCI:C5154 UMLS_CUI:C1332607 sarcoma of the brain disease_ontology DOID:2132 brain sarcoma sarcoma of the brain NCI2004_11_17:C5154 NCI:C5153 UMLS_CUI:C1332892 sarcoma of the CNS disease_ontology DOID:2133 central nervous system sarcoma sarcoma of the CNS NCI2004_11_17:C5153 DOID:2134 ICD10CM:C71.2 ICD9CM:191.2 NCI:C5567 SNOMEDCT_US_2016_03_01:126955002 SNOMEDCT_US_2016_03_01:188291000 SNOMEDCT_US_2016_03_01:363468009 SNOMEDCT_US_2016_03_01:94086000 UMLS_CUI:C0153636 UMLS_CUI:C1263887 malignant neoplasm of temporal lobe malignant neoplasm of temporal lobe (disorder) malignant neoplasm of temporal lobe NOS (disorder) neoplasm of temporal lobe (disorder) tumor of Temporal Lobe disease_ontology DOID:2135 temporal lobe neoplasm malignant neoplasm of temporal lobe (disorder) SNOMEDCT_2005_07_31:363468009 malignant neoplasm of temporal lobe NOS (disorder) SNOMEDCT_2005_07_31:188291000 neoplasm of temporal lobe (disorder) SNOMEDCT_2005_07_31:126955002 tumor of Temporal Lobe NCI2004_11_17:C5567 SNOMEDCT_US_2016_03_01:126884005 UMLS_CUI:C0341766 neoplasm of paraurethral glands (disorder) tumor of the Paraurethral gland disease_ontology DOID:2139 paraurethral gland neoplasm neoplasm of paraurethral glands (disorder) SNOMEDCT_2005_07_31:126884005 tumor of the Paraurethral gland NCI2004_11_17:C4378 ICD10CM:K03.8 ICD10CM:K03.89 ICD9CM:521.8 ICD9CM:521.89 SNOMEDCT_US_2016_03_01:197505001 UMLS_CUI:C0029770 disease_ontology DOID:214 teeth hard tissue disease NCI:C5061 UMLS_CUI:C1519826 disease_ontology DOID:2140 urethral urothelial papilloma NCI:C6171 UMLS_CUI:C1336888 leiomyoma of the urethra disease_ontology DOID:2142 urethra leiomyoma leiomyoma of the urethra NCI2004_11_17:C6171 NCI:C40444 UMLS_CUI:C1518721 disease_ontology DOID:2143 ovarian malignant mesothelioma NCI:C3843 UMLS_CUI:C0235770 disease_ontology DOID:2145 malignant ovarian cyst NCI:C8267 SNOMEDCT_US_2016_03_01:423627007 UMLS_CUI:C0280746 sarcoma of Ovary disease_ontology DOID:2146 ovary sarcoma sarcoma of Ovary NCI2004_11_17:C8267 soft tissue tumor of Ovary disease_ontology DOID:2147 ovary soft tissue neoplasm true soft tissue tumor of Ovary NCI2004_11_17:C5244 An urogenital tuberculosis that results_in inflammtion located_in ovary. ICD10CM:A18.17 ICD9CM:016.6 SNOMEDCT_US_2016_03_01:186242002 SNOMEDCT_US_2016_03_01:186243007 UMLS_CUI:C0152828 disease_ontology DOID:2148 tuberculous oophoritis An urogenital tuberculosis that results_in inflammtion located_in ovary. url:http://www.ams.ac.ir/aim/0581/009.pdf An extrapulmonary tuberculosis that is located_in urogenital system. ICD10CM:A18.1 ICD10CM:A18.10 ICD9CM:016 ICD9CM:016.9 MESH:D014401 SNOMEDCT_US_2016_03_01:186246004 SNOMEDCT_US_2016_03_01:4445009 UMLS_CUI:C0041333 disease_ontology Genitourinary tuberculosis DOID:2149 urogenital tuberculosis An extrapulmonary tuberculosis that is located_in urogenital system. url:http://en.wikipedia.org/wiki/Urogenital_tuberculosis NCI:C40021 UMLS_CUI:C1518720 disease_ontology DOID:2150 ovarian lymphoma NCI:C40026 UMLS_CUI:C1518236 disease_ontology DOID:2151 malignant ovarian surface epithelial-stromal neoplasm An ovarian cancer that is derives_from ovarian surface epithelium. NCI:C4381 SNOMEDCT_US_2016_03_01:237057005 UMLS_CUI:C0341823 Ovarian Surface epithelial-Stromal tumor epithelial tumor of ovary (disorder) disease_ontology epithelial tumor of ovary DOID:2152 ovary epithelial cancer An ovarian cancer that is derives_from ovarian surface epithelium. url:http://en.wikipedia.org/wiki/Ovarian_cancer url:http://en.wikipedia.org/wiki/Surface_epithelial-stromal_tumor Ovarian Surface epithelial-Stromal tumor NCI2004_11_17:C4381 epithelial tumor of ovary (disorder) SNOMEDCT_2005_07_31:237057005 A malignant neoplasm of ovary and nephroblastoma that is located_in the ovaries. NCI:C40443 UMLS_CUI:C1518746 disease_ontology ovarian Wilms' tumor DOID:2153 ovarian Wilms' cancer A malignant neoplasm of ovary and nephroblastoma that is located_in the ovaries. url:http://www.ncbi.nlm.nih.gov/pubmed/18260155 A kidney cancer that affects the kidneys and typically located_in children. DOID:5177 DOID:5180 MESH:D009396 NCI:C27730 NCI:C3267 NCI:C40407 NCI:C6180 OMIM:194070 SNOMEDCT_US_2016_03_01:25081006 SNOMEDCT_US_2016_03_01:302849000 SNOMEDCT_US_2016_03_01:31470003 UMLS_CUI:C0027708 UMLS_CUI:C1332219 UMLS_CUI:C1333015 adult nephroblastoma adult renal Wilms' tumor childhood renal Wilms' cancer renal Wilms tumor disease_ontology Wilms' tumor childhood renal Wilms tumor DOID:2154 OMIM mapping confirmed by DO. [SN]. nephroblastoma A kidney cancer that affects the kidneys and typically located_in children. url:http://en.wikipedia.org/wiki/Wilms%27_tumor adult nephroblastoma NCI2004_11_17:C6180 renal Wilms tumor NCI2004_11_17:C40407 Wilms' tumor CSP2005:4001-0143 MESH:C562841 NCI:C4514 SNOMEDCT_US_2016_03_01:254869000 UMLS_CUI:C0346180 malignant Ovarian germ cell tumor malignant germ cell tumor of ovary (disorder) disease_ontology DOID:2155 malignant ovarian germ cell neoplasm malignant Ovarian germ cell tumor NCI2004_11_17:C4514 malignant germ cell tumor of ovary (disorder) SNOMEDCT_2005_07_31:254869000 An ovarian cancer that originates in the germ (egg) cells of the ovary. NCI:C3873 OMIM:603737 SNOMEDCT_US_2016_03_01:237059008 UMLS_CUI:C0238324 germ cell neoplasm of Ovary germ cell tumor of ovary (disorder) disease_ontology ovarian germ cell tumor DOID:2156 OMIM mapping confirmed by DO. [SN]. ovarian germ cell cancer An ovarian cancer that originates in the germ (egg) cells of the ovary. url:http://www.cancer.gov/cancertopics/pdq/treatment/ovarian-germ-cell/Patient germ cell neoplasm of Ovary NCI2004_11_17:C3873 germ cell tumor of ovary (disorder) SNOMEDCT_2005_07_31:237059008 metastasis to lung metastatic tumor to the lung secondary malignant neoplasm of lung secondary malignant neoplasm of lung (disorder) disease_ontology DOID:2158 lung metastasis true metastasis to lung SNOMEDCT_2005_07_31:154566002 metastatic tumor to the lung NCI2004_11_17:C3577 secondary malignant neoplasm of lung ICD9CM_2006:197.0 secondary malignant neoplasm of lung (disorder) SNOMEDCT_2005_07_31:94391008 DOID:10785 DOID:10870 DOID:11913 EFO:0003819 ICD10CM:K02 ICD10CM:K02.6 ICD10CM:K02.9 ICD9CM:521.0 ICD9CM:521.00 ICD9CM:521.06 ICD9CM:521.07 MESH:D003731 NCI:C52593 SNOMEDCT_US_2016_03_01:155632007 SNOMEDCT_US_2016_03_01:196307002 SNOMEDCT_US_2016_03_01:80967001 UMLS_CUI:C0011334 UMLS_CUI:C1456144 UMLS_CUI:C1456145 Dental caries extending into pulp Dental caries of smooth surface Dental caries pit and fissure disease_ontology DOID:216 dental caries DOID:4728 NCI:C27102 SNOMEDCT_US_2016_03_01:195823002 SNOMEDCT_US_2016_03_01:232340005 SNOMEDCT_US_2016_03_01:232359007 UMLS_CUI:C0339820 disease_ontology DOID:2163 nasal cavity disease ICD9CM:521.01 SNOMEDCT_US_2016_03_01:109570002 SNOMEDCT_US_2016_03_01:19437001 SNOMEDCT_US_2016_03_01:196303003 SNOMEDCT_US_2016_03_01:80353004 UMLS_CUI:C0266853 Dental caries limited to enamel primary dental caries simple dental cavity disease_ontology DOID:217 enamel caries Dental caries limited to enamel ICD9CM_2006:521.01 primary dental caries SNOMEDCT_2005_07_31:109570002 simple dental cavity SNOMEDCT_2005_07_31:19437001 DOID:10769 ICD9CM:616.1 ICD9CM:616.10 MESH:D014627 NCI:C26911 SNOMEDCT_US_2016_03_01:155981006 SNOMEDCT_US_2016_03_01:198212006 SNOMEDCT_US_2016_03_01:198213001 SNOMEDCT_US_2016_03_01:198223005 SNOMEDCT_US_2016_03_01:266655004 SNOMEDCT_US_2016_03_01:30800001 SNOMEDCT_US_2016_03_01:393596009 UMLS_CUI:C0042267 UMLS_CUI:C0042268 disease_ontology DOID:2170 vaginitis malignant neoplasm of the eyelid malignant tumor of eyelid (disorder) disease_ontology DOID:2172 malignant eyelid tumor true malignant neoplasm of the eyelid NCI2004_11_17:C6786 malignant tumor of eyelid (disorder) SNOMEDCT_2005_07_31:231829006 MESH:D005142 NCI:C3031 SNOMEDCT_US_2016_03_01:278697001 UMLS_CUI:C0015424 tumor of the eyelid disease_ontology DOID:2173 eyelid neoplasm tumor of the eyelid NCI2004_11_17:C3031 A sensory system cancer located_in the eye that is characterized by uncontrolled cellular proliferation in the eye. DOID:9985 ICD9CM:190.8 MESH:D005134 NCI:C3030 SNOMEDCT_US_2016_03_01:126995000 SNOMEDCT_US_2016_03_01:188277006 SNOMEDCT_US_2016_03_01:371486001 UMLS_CUI:C0015414 UMLS_CUI:C0153632 Ocular tumor eye neoplasm malignant eye neoplasm neoplasm of eye neoplasm of eye proper disease_ontology DOID:2174 ocular cancer A sensory system cancer located_in the eye that is characterized by uncontrolled cellular proliferation in the eye. url:http://en.wikipedia.org/wiki/Eye url:http://en.wikipedia.org/wiki/Eye_neoplasm Ocular tumor NCI2004_11_17:C3030 eye neoplasm CSP2005:2018-3273 neoplasm of eye SNOMEDCT_2005_07_31:126995000 neoplasm of eye proper SNOMEDCT_2005_07_31:371486001 DOID:11083 DOID:11225 DOID:11534 DOID:13284 DOID:13537 DOID:13688 DOID:2175 DOID:2380 ICD9CM:680.9 UMLS_CUI:C0007079 Carbuncle and furuncle of buttock Carbuncle and furuncle of face carbuncle and furuncle of any part of face except eye carbuncle and furuncle of foot carbuncle and furuncle of gluteal region carbuncle and furuncle of hand carbuncle and furuncle of leg except foot carbuncle and furuncle of neck carbuncle and furuncle of trunk carbuncle and furuncle of upper arm and forearm disease_ontology DOID:2176 carbuncle Carbuncle and furuncle of buttock ICD9CM_2006:680.5 Carbuncle and furuncle of face ICD9CM_2006:680.0 DOID:11640 DOID:11641 DOID:12099 DOID:12100 DOID:12496 DOID:12497 DOID:12648 DOID:12649 DOID:12947 DOID:12948 DOID:12949 DOID:9624 DOID:9625 DOID:9627 DOID:9628 DOID:9629 Asymptomatic bacteriuria antepartum Asymptomatic bacteriuria in pregnancy, with delivery Asymptomatic bacteriuria postpartum Gonorrhea + pregnancy Infectious and parasitic conditions in the mother classifiable elsewhere, but complicating pregnancy, childbirth, or the puerperium Syphilis + pregnancy Syphilis complicating pregnancy, childbirth, or the puerperium antepartum gonorrhea antepartum malaria antepartum syphilis gonorrhea complicating pregnancy, childbirth, or the puerperium gonorrhea of mother with delivery malaria complicating pregnancy, childbirth, or the puerperium malaria of mother with delivery postpartum gonorrhea postpartum malaria postpartum syphilis syphilis of mother, complicating pregnancy, with delivery disease_ontology DOID:2177 complications mainly related to pregnancy true Gonorrhea + pregnancy SNOMEDCT_2005_07_31:267316003 Syphilis + pregnancy SNOMEDCT_2005_07_31:267316003 Diabetes mellitus juvenile type, uncontrolled, with ophthalmic manifestations Diabetes mellitus type I [juvenile type], uncontrolled, with ophthalmic manifestations disease_ontology DOID:2179 diabetes mellitus insulin dependent type, uncontrolled, with ophthalmic manifestations true Diabetes mellitus juvenile type, uncontrolled, with ophthalmic manifestations MTHICD9_2006:250.53 Diabetes mellitus type I [juvenile type], uncontrolled, with ophthalmic manifestations ICD9CM_2006:250.53 ICD10CM:C18.2 ICD9CM:153.6 SNOMEDCT_US_2016_03_01:154460005 SNOMEDCT_US_2016_03_01:269539001 SNOMEDCT_US_2016_03_01:363412000 SNOMEDCT_US_2016_03_01:93683002 UMLS_CUI:C0153439 Ca ascending colon Ca ascending colon (disorder) malignant neoplasm of right colon malignant tumor of ascending colon (disorder) disease_ontology DOID:218 ascending colon cancer Ca ascending colon SNOMEDCT_2005_07_31:154460005 Ca ascending colon (disorder) SNOMEDCT_2005_07_31:269539001 malignant neoplasm of right colon MTHICD9_2006:153.6 malignant tumor of ascending colon (disorder) SNOMEDCT_2005_07_31:363412000 disease_ontology DOID:2180 diabetic oculopathy true ICD10CM:E89.1 ICD9CM:251.3 SNOMEDCT_US_2016_03_01:190437000 SNOMEDCT_US_2016_03_01:78483000 UMLS_CUI:C0154190 Postsurgical hypoinsulinemia disease_ontology DOID:2181 post-surgical hypoinsulinemia Postsurgical hypoinsulinemia ICD9CM_2006:251.3 DOID:14733 (Macroencephaly) or (megalencephaly) or (enlarged brain) or (macrocephaly) Cole-Hughes syndrome MACROCEPHALY, benign familial Macrocephaly (disorder) megacephaly disease_ontology DOID:2186 macrocephaly true (Macroencephaly) or (megalencephaly) or (enlarged brain) or (macrocephaly) SNOMEDCT_2005_07_31:204070009 Macrocephaly (disorder) SNOMEDCT_2005_07_31:19410003 megacephaly NCI2004_11_17:C35268 A dental enamel hypoplasia characterized by abnormal enamel formation. CSP:0828-0533 ICD10CM:K00.5 MESH:D000567 OMIM:PS104500 ORDO:88661 SNOMEDCT_US_2016_03_01:78494001 UMLS_CUI:C0002452 disease_ontology DOID:2187 Xref MGI. amelogenesis imperfecta A dental enamel hypoplasia characterized by abnormal enamel formation. url:http://en.wikipedia.org/wiki/Amelogenesis_imperfecta url:http://ghr.nlm.nih.gov/condition/amelogenesis-imperfecta url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/501/viewAbstract A colorectal cancer that is located_in the colon. ICD10CM:C18 ICD10CM:C18.9 ICD9CM:153 ICD9CM:153.9 MESH:D003110 NCI:C9242 SNOMEDCT_US_2016_03_01:154463007 SNOMEDCT_US_2016_03_01:187759003 SNOMEDCT_US_2016_03_01:269461008 SNOMEDCT_US_2016_03_01:269542007 SNOMEDCT_US_2016_03_01:363406005 SNOMEDCT_US_2016_03_01:93761005 UMLS_CUI:C0007102 disease_ontology DOID:219 colon cancer A colorectal cancer that is located_in the colon. url:http://www.cancer.gov/dictionary?CdrID=44237 A perichondritis of auricle with a sudden onset and a short course. ICD9CM:380.01 SNOMEDCT_US_2016_03_01:45855004 UMLS_CUI:C0155390 acute perichondritis of pinna (disorder) disease_ontology DOID:221 acute perichondritis of pinna A perichondritis of auricle with a sudden onset and a short course. url:http://www.nlm.nih.gov/medlineplus/ency/article/001253.htm acute perichondritis of pinna (disorder) SNOMEDCT_2005_07_31:45855004 MESH:D005177 NCI:C98941 OMIM:613225 OMIM:613235 SNOMEDCT_US_2016_03_01:18604004 SNOMEDCT_US_2016_03_01:50189006 UMLS_CUI:C0015530 Factor XIII deficiency disease (disorder) Hereditary factor XIII deficiency disease (disorder) deficiency, Laki-Lorand factor disease_ontology DOID:2211 OMIM mapping confirmed by DO. [SN]. factor XIII deficiency Factor XIII deficiency disease (disorder) SNOMEDCT_2005_07_31:18604004 Hereditary factor XIII deficiency disease (disorder) SNOMEDCT_2005_07_31:50189006 deficiency, Laki-Lorand factor MTHICD9_2006:286.3 MESH:D020147 UMLS_CUI:C0600503 disease_ontology DOID:2212 coagulation protein disease ICD10CM:D69.9 ICD9CM:287.9 MESH:D006474 SNOMEDCT_US_2016_03_01:191327000 SNOMEDCT_US_2016_03_01:191331006 SNOMEDCT_US_2016_03_01:191437009 SNOMEDCT_US_2016_03_01:268884000 UMLS_CUI:C0019087 Hemorrhagic diathesis Hemorrhagic disease disease_ontology DOID:2213 hemorrhagic disease Hemorrhagic diathesis MTHICD9_2006:287.9 Hemorrhagic disease SNOMEDCT_2005_07_31:268884000 MESH:D025861 ORDO:98429 UMLS_CUI:C0852077 disease_ontology DOID:2214 inherited blood coagulation disease ICD10CM:D68.2 MESH:D005168 SNOMEDCT_US_2016_03_01:154820003 SNOMEDCT_US_2016_03_01:37193007 UMLS_CUI:C0015503 Factor VII deficiency Factor VII deficiency (disorder) deficiency, stable disease_ontology DOID:2215 factor VII deficiency Factor VII deficiency SNOMEDCT_2005_07_31:154820003 Factor VII deficiency (disorder) SNOMEDCT_2005_07_31:37193007 deficiency, stable MTHICD9_2006:286.3 ICD10CM:D68.2 MESH:D005166 NCI:C98938 OMIM:227400 SNOMEDCT_US_2016_03_01:191284007 SNOMEDCT_US_2016_03_01:365157004 SNOMEDCT_US_2016_03_01:366160003 SNOMEDCT_US_2016_03_01:4320005 SNOMEDCT_US_2016_03_01:88776002 UMLS_CUI:C0015499 Hereditary hypoproaccelerinaemia Labile factor deficiency Proaccelerin deficiency deficiency, labile disease_ontology DOID:2216 OMIM mapping confirmed by DO. [SN]. factor V deficiency Hereditary hypoproaccelerinaemia SNOMEDCT_2005_07_31:88776002 Labile factor deficiency SNOMEDCT_2005_07_31:366160003 Proaccelerin deficiency SNOMEDCT_2005_07_31:365157004 deficiency, labile MTHICD9_2006:286.3 An inherited blood coagulation disease characterized by autosomal recessive inheritance of mucosal bleeding, purpuric skin bleeding, epistaxis, and menorrhagia with prolonged bleeding times, enlarged platelets and absence of platelet aggregation in response to von Willebrand factor that has material_basis_in mutation in the GP1BA gene, the GP1BB gene, or the GP9 gene which are subunits of the platelet membrane von Willebrand factor receptor complex, glycoprotein Ib. MESH:D001606 NCI:C84595 OMIM:231200 ORDO:274 SNOMEDCT_US_2016_03_01:191309003 SNOMEDCT_US_2016_03_01:234478007 SNOMEDCT_US_2016_03_01:54569005 UMLS_CUI:C0005129 Bernard - Soulier thrombopathy Bernard Soulier syndrome Giant platelet syndrome (disorder) Hemorrhagic dystrophic thrombocytopenia Thrombopathy, Bernard-Soulier disease_ontology DOID:2217 OMIM mapping confirmed by DO. [SN]. Bernard-Soulier syndrome An inherited blood coagulation disease characterized by autosomal recessive inheritance of mucosal bleeding, purpuric skin bleeding, epistaxis, and menorrhagia with prolonged bleeding times, enlarged platelets and absence of platelet aggregation in response to von Willebrand factor that has material_basis_in mutation in the GP1BA gene, the GP1BB gene, or the GP9 gene which are subunits of the platelet membrane von Willebrand factor receptor complex, glycoprotein Ib. url:https://www.ncbi.nlm.nih.gov/pubmed/10706630 url:https://www.ncbi.nlm.nih.gov/pubmed/8481514 url:https://www.ncbi.nlm.nih.gov/pubmed/8703016 url:https://www.ncbi.nlm.nih.gov/pubmed/9616133 Bernard - Soulier thrombopathy SNOMEDCT_2005_07_31:191309003 Bernard Soulier syndrome CSP2005:4001-0130 Giant platelet syndrome (disorder) SNOMEDCT_2005_07_31:234478007 Hemorrhagic dystrophic thrombocytopenia SNOMEDCT_2005_07_31:54569005 Thrombopathy, Bernard-Soulier MTHICD9_2006:287.1 MESH:D001791 SNOMEDCT_US_2016_03_01:22716005 UMLS_CUI:C0005818 Thrombocytopathy platelet disorder disease_ontology DOID:2218 blood platelet disease Thrombocytopathy MTHICD9_2006:287.1 platelet disorder CSP2005:0446-1413 An inherited blood coagulation disease characterized by autosomal recessive inheritance of failure of platelet aggregation and absent or diminished clot retraction that has material_basis_in mutation in the ITGA2B or ITGB3 genes on chromosome 17q21.32. ICD10CM:D69.1 MESH:D013915 NCI:C61249 OMIM:273800 ORDO:849 SNOMEDCT_US_2016_03_01:191310008 SNOMEDCT_US_2016_03_01:30577005 SNOMEDCT_US_2016_03_01:32942005 UMLS_CUI:C0040015 BDPLT2 Glanzmann thrombasthenia Glycoprotein IIb/IIIa defect Thrombocytasthenia deficiency of GP IIb-IIIa complex deficiency of glycoprotein complex IIb-IIIa deficiency of platelet fibrinogen receptor platelet glycoprotein IIb-IIIa deficiency platelet-type bleeding disorder 2 thrombasthenia of Glanzmann and Naegeli disease_ontology DOID:2219 OMIM mapping confirmed by DO. [LS]. Glanzmann's thrombasthenia An inherited blood coagulation disease characterized by autosomal recessive inheritance of failure of platelet aggregation and absent or diminished clot retraction that has material_basis_in mutation in the ITGA2B or ITGB3 genes on chromosome 17q21.32. url:https://www.ncbi.nlm.nih.gov/pubmed/16463284 url:https://www.ncbi.nlm.nih.gov/pubmed/2014236 url:https://www.ncbi.nlm.nih.gov/pubmed/9160670 Glycoprotein IIb/IIIa defect SNOMEDCT_2005_07_31:191310008 Thrombocytasthenia MTHICD9_2006:287.1 An otitis externa involving infection of the tissue surrounding the cartilage of the earlobe (pinna), ear canal, or both. It may be caused by injury, burns, insect bites, ear piercing, or a boil on the ear. The common bacterial causative agent is Pseudomonas aeruginosa. Symptoms include redness, pain, fever, swelling of the earlobe and pus accumulation between the cartilage and the layer of connective tissue around it. ICD10CM:H61.0 ICD10CM:H61.00 ICD10CM:H61.009 ICD9CM:380.0 ICD9CM:380.00 SNOMEDCT_US_2016_03_01:155210008 SNOMEDCT_US_2016_03_01:194194008 SNOMEDCT_US_2016_03_01:194197001 SNOMEDCT_US_2016_03_01:236871000119109 SNOMEDCT_US_2016_03_01:34129005 UMLS_CUI:C0155389 Perichondritis and chondritis of pinna Perichondritis of pinna Perichondritis of pinna (disorder) Perichondritis of pinna NOS (disorder) Perichondritis of pinna, unspecified Unspecified perichondritis of pinna (disorder) disease_ontology DOID:222 perichondritis of auricle An otitis externa involving infection of the tissue surrounding the cartilage of the earlobe (pinna), ear canal, or both. It may be caused by injury, burns, insect bites, ear piercing, or a boil on the ear. The common bacterial causative agent is Pseudomonas aeruginosa. Symptoms include redness, pain, fever, swelling of the earlobe and pus accumulation between the cartilage and the layer of connective tissue around it. url:http://www.merck.com/mmhe/sec19/ch219/ch219d.html?qt=perichondritis&alt=sh url:http://www.nlm.nih.gov/medlineplus/ency/article/001253.htm Perichondritis and chondritis of pinna ICD9CM_2006:380.0 Perichondritis of pinna SNOMEDCT_2005_07_31:155210008 Perichondritis of pinna (disorder) SNOMEDCT_2005_07_31:34129005 Perichondritis of pinna NOS (disorder) SNOMEDCT_2005_07_31:194197001 Perichondritis of pinna, unspecified ICD9CM_2006:380.00 Unspecified perichondritis of pinna (disorder) SNOMEDCT_2005_07_31:194194008 MESH:D005171 SNOMEDCT_US_2016_03_01:76642003 UMLS_CUI:C0015519 Factor X deficiency (disorder) disease, Stuart-Prower disease_ontology DOID:2222 factor X deficiency Factor X deficiency (disorder) SNOMEDCT_2005_07_31:76642003 disease, Stuart-Prower MTHICD9_2006:286.3 MESH:D010981 OMIM:185050 SNOMEDCT_US_2016_03_01:128099001 SNOMEDCT_US_2016_03_01:129655003 SNOMEDCT_US_2016_03_01:234474009 SNOMEDCT_US_2016_03_01:9417000 UMLS_CUI:C0032197 Dense body defect (disorder) Platelet dense granule deficiency (disorder) Platelet storage pool defect disease_ontology DOID:2223 platelet storage pool deficiency Dense body defect (disorder) SNOMEDCT_2005_07_31:234474009 Platelet dense granule deficiency (disorder) SNOMEDCT_2005_07_31:9417000 Platelet storage pool defect SNOMEDCT_2005_07_31:128099001 A myeloproliferative neoplasm that is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage and that results_in the overproduction of platelets. ICD10CM:D47.3 ICD9CM:238.71 MESH:D013920 NCI:C3407 OMIM:187950 OMIM:300331 OMIM:601977 OMIM:614521 ORDO:3318 ORDO:71493 SNOMEDCT_US_2016_03_01:109994006 SNOMEDCT_US_2016_03_01:128844009 SNOMEDCT_US_2016_03_01:189508006 SNOMEDCT_US_2016_03_01:189513005 SNOMEDCT_US_2016_03_01:189514004 SNOMEDCT_US_2016_03_01:191333009 SNOMEDCT_US_2016_03_01:234499005 SNOMEDCT_US_2016_03_01:307652003 SNOMEDCT_US_2016_03_01:65471002 UMLS_CUI:C0040028 Essential thrombocythaemia familial thrombocytosis hemorrhagic thrombocythemia hereditary thrombocythemia primary Thrombocytosis disease_ontology DOID:2224 Xref MGI. OMIM mapping confirmed by DO. [SN]. essential thrombocythemia A myeloproliferative neoplasm that is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage and that results_in the overproduction of platelets. url:http://www.webmd.com/a-to-z-guides/thrombocythemia-essential Essential thrombocythaemia SNOMEDCT_2005_07_31:189513005 primary Thrombocytosis NCI2004_11_17:C3407 NCI:C7066 UMLS_CUI:C1334687 disease_ontology DOID:2225 A legacy term, obsoleted. obsolete megakaryocytic tumor true A myeloid neoplasm that is characterized by a group of slow growing blood cancers in which large numbers of abnormal red blood cells, white blood cells, or platelets grow and spread in the bone marrow and the peripheral blood. DOID:6002 ICD10CM:D47.1 NCI:C4345 SNOMEDCT_US_2016_03_01:109993000 SNOMEDCT_US_2016_03_01:115248004 SNOMEDCT_US_2016_03_01:128842008 SNOMEDCT_US_2016_03_01:20921005 UMLS_CUI:C1292778 CMPD CMPD, U chronic myeloproliferative disease disease_ontology DOID:2226 myeloproliferative neoplasm A myeloid neoplasm that is characterized by a group of slow growing blood cancers in which large numbers of abnormal red blood cells, white blood cells, or platelets grow and spread in the bone marrow and the peripheral blood. url:http://www.bloodjournal.org/content/114/5/937.long url:http://www.cancer.gov/cancertopics/types/myeloproliferative CMPD NCI2004_11_17:C4345 CMPD, U NCI2004_11_17:C27350 disease_ontology DOID:2227 malignant neoplasm of lymphatic and hemopoietic tissue true A blood platelet disease that is characterized by the presence of high platelet counts in the blood. MESH:D013922 NCI:C35530 SNOMEDCT_US_2016_03_01:142970009 SNOMEDCT_US_2016_03_01:165557006 SNOMEDCT_US_2016_03_01:415115007 SNOMEDCT_US_2016_03_01:6631009 SNOMEDCT_US_2016_03_01:79574003 UMLS_CUI:C0836924 Thrombocythaemia disease_ontology DOID:2228 thrombocytosis A blood platelet disease that is characterized by the presence of high platelet counts in the blood. url:http://en.wikipedia.org/wiki/Thrombocytosis url:http://my.clevelandclinic.org/disorders/thrombocytosis/hic_thrombocytosis.aspx Thrombocythaemia SNOMEDCT_2005_07_31:142970009 ICD10CM:D68.1 ICD9CM:286.2 MESH:D005173 NCI:C84705 OMIM:612416 SNOMEDCT_US_2016_03_01:49762007 UMLS_CUI:C0015523 Congenital factor XI deficiency Hereditary factor XI deficiency disease Rosenthal's disease hemophilia C plasma thromboplastin antecedent deficiency disease_ontology DOID:2229 OMIM mapping confirmed by DO. [SN]. factor XI deficiency Congenital factor XI deficiency ICD9CM_2006:286.2 Hereditary factor XI deficiency disease SNOMEDCT_2005_07_31:49762007 Rosenthal's disease MTHICD9_2006:286.2 ICD9CM:435.0 MESH:D014715 NCI:C34413 SNOMEDCT_US_2016_03_01:195197005 SNOMEDCT_US_2016_03_01:64009001 UMLS_CUI:C0004812 Basilar artery syndrome Basilar artery syndrome (disorder) disease_ontology DOID:223 basilar artery insufficiency Basilar artery syndrome ICD9CM_2006:435.0 Basilar artery syndrome NCI2004_11_17:C34413 Basilar artery syndrome SNOMEDCT_2005_07_31:195197005 Basilar artery syndrome (disorder) SNOMEDCT_2005_07_31:64009001 Haemophilia Hemophilia (disorder) Hemophilia NOS hemophilia disease_ontology DOID:2230 hemophilia true Haemophilia SNOMEDCT_2005_07_31:154816002 Hemophilia (disorder) SNOMEDCT_2005_07_31:90935002 Hemophilia NOS MTHICD9_2006:286.0 hemophilia NCI2004_11_17:C3093 MESH:D005175 OMIM:234000 SNOMEDCT_US_2016_03_01:46981006 UMLS_CUI:C0015526 Factor XII deficiency disease Hageman Factor deficiency deficiency, Hageman disease_ontology DOID:2231 OMIM mapping confirmed by DO. [SN]. factor XII deficiency Factor XII deficiency disease SNOMEDCT_2005_07_31:46981006 Hageman Factor deficiency NCI2004_11_17:C26770 deficiency, Hageman MTHICD9_2006:286.3 disease_ontology DOID:2232 coagulation factor deficiency true disease_ontology DOID:2233 partial epilepsy with impairment of consciousness true An epilepsy syndrome that is characterised by seizures that are preceded by an isolated disturbance of a cerebral function and arise from an epileptic focus, a small portion of the brain that serves as the irritant driving the epileptic response. MESH:D004828 NCI:C122812 SNOMEDCT_US_2016_03_01:155041001 SNOMEDCT_US_2016_03_01:155044009 SNOMEDCT_US_2016_03_01:193007004 SNOMEDCT_US_2016_03_01:230381009 SNOMEDCT_US_2016_03_01:29753000 SNOMEDCT_US_2016_03_01:67139004 UMLS_CUI:C0014547 localisation-related epilepsy partial epilepsy disease_ontology DOID:2234 focal epilepsy An epilepsy syndrome that is characterised by seizures that are preceded by an isolated disturbance of a cerebral function and arise from an epileptic focus, a small portion of the brain that serves as the irritant driving the epileptic response. url:http://en.wikipedia.org/wiki/Epilepsy url:http://en.wikipedia.org/wiki/Focal_epilepsy url:http://www.aafp.org/afp/2001/0701/p91.html localisation-related epilepsy SNOMEDCT_2005_07_31:155044009 MESH:D007020 OMIM:613679 UMLS_CUI:C0020640 hypoprothrombinemia disease_ontology Factor II deficiency DOID:2235 OMIM mapping confirmed by DO. [SN]. prothrombin deficiency Factor II deficiency NCI2004_11_17:C26799 ICD10CM:D68.2 MESH:D000347 NCI:C26692 NCI:C98130 OMIM:202400 SNOMEDCT_US_2016_03_01:278504009 SNOMEDCT_US_2016_03_01:29718007 SNOMEDCT_US_2016_03_01:359727008 UMLS_CUI:C0001733 Factor I deficiency Fibrinogen deficiency disease_ontology DOID:2236 OMIM mapping confirmed by DO. [SN]. congenital afibrinogenemia Factor I deficiency NCI2004_11_17:C26692 Fibrinogen deficiency SNOMEDCT_2005_07_31:29718007 DOID:12352 DOID:14551 DOID:1706 DOID:1707 DOID:2238 ICD10CM:K73.9 ICD9CM:570 ICD9CM:571.4 ICD9CM:571.40 ICD9CM:571.41 MESH:D006521 NCI:C82978 SNOMEDCT_US_2016_03_01:155808003 SNOMEDCT_US_2016_03_01:155813004 SNOMEDCT_US_2016_03_01:197268000 SNOMEDCT_US_2016_03_01:197278002 SNOMEDCT_US_2016_03_01:197288001 SNOMEDCT_US_2016_03_01:197289009 SNOMEDCT_US_2016_03_01:266536009 SNOMEDCT_US_2016_03_01:266539002 SNOMEDCT_US_2016_03_01:41889008 SNOMEDCT_US_2016_03_01:76783007 UMLS_CUI:C0001308 UMLS_CUI:C0019189 UMLS_CUI:C0149519 acute and subacute liver necrosis acute hepatitis acute/subac. necrosis of liver animal hepatitis chronic hepatitis chronic persistent hepatitis disease_ontology DOID:2237 hepatitis acute and subacute liver necrosis SNOMEDCT_2005_07_31:197268000 acute/subac. necrosis of liver SNOMEDCT_2005_07_31:155808003 SNOMEDCT_2005_07_31:266536009 chronic persistent hepatitis SNOMEDCT_2005_07_31:155813004 SNOMEDCT_2005_07_31:266539002 NCI:C27015 SNOMEDCT_US_2016_03_01:86514004 UMLS_CUI:C0235369 Granulomatous hepatitis (disorder) disease_ontology DOID:2239 granulomatous hepatitis Granulomatous hepatitis (disorder) SNOMEDCT_2005_07_31:86514004 DOID:2315 ICD10CM:G45.9 ICD9CM:435.8 MESH:D002546 NCI:C50781 SNOMEDCT_US_2016_03_01:155404005 SNOMEDCT_US_2016_03_01:195196001 SNOMEDCT_US_2016_03_01:195207009 SNOMEDCT_US_2016_03_01:266257000 SNOMEDCT_US_2016_03_01:266314007 SNOMEDCT_US_2016_03_01:313242003 SNOMEDCT_US_2016_03_01:38609002 UMLS_CUI:C0007787 UMLS_CUI:C0155728 TIA TIA - Transient ischaemic attack TRANSIENT ISCHEMIC ATTACK Transient cerebral ischaemia Transient cerebral ischaemia NOS Transient cerebral ischemia (disorder) [Ambiguous] Transient ischemic attacks (disorder) transient ischemic attack disease_ontology DOID:224 transient cerebral ischemia TIA CSP2005:4001-0136 MTHICD9_2006:435.9 TIA - Transient ischaemic attack SNOMEDCT_2005_07_31:266257000 TRANSIENT ISCHEMIC ATTACK MTH:NOCODE Transient cerebral ischaemia SNOMEDCT_2005_07_31:155404005 SNOMEDCT_2005_07_31:195196001 SNOMEDCT_2005_07_31:266314007 Transient cerebral ischaemia NOS SNOMEDCT_2005_07_31:195207009 Transient cerebral ischemia (disorder) [Ambiguous] SNOMEDCT_2005_07_31:38609002 Transient ischemic attacks (disorder) SNOMEDCT_2005_07_31:313242003 Major depressive disorder, recurrent episode, mild degree Mild recurrent major depression (disorder) recurrent major depressive episodes, mild (disorder) disease_ontology DOID:2242 mild recurrent major depression true Major depressive disorder, recurrent episode, mild degree ICD9CM_2006:296.31 Mild recurrent major depression (disorder) SNOMEDCT_2005_07_31:40379007 recurrent major depressive episodes, mild (disorder) SNOMEDCT_2005_07_31:191610000 An bone structure disease that involves degeneration between vertebra located_in vertebral column. DOID:8708 DOID:8709 DOID:8888 DOID:8905 DOID:9949 ICD10CM:M47 ICD10CM:M47.9 ICD9CM:721.9 MESH:D055009 SNOMEDCT_US_2016_03_01:156622007 SNOMEDCT_US_2016_03_01:156628006 SNOMEDCT_US_2016_03_01:202701004 SNOMEDCT_US_2016_03_01:202704007 SNOMEDCT_US_2016_03_01:267973008 SNOMEDCT_US_2016_03_01:268074002 SNOMEDCT_US_2016_03_01:268075001 SNOMEDCT_US_2016_03_01:8847002 UMLS_CUI:C0038019 Lumbar spondylosis with myelopathy (disorder) Spondylogenic compression of lumbar spinal cord Spondylogenic compression of thoracic spinal cord Spondylosis with myelopathy (disorder) Thoracic or lumbar spondylosis with myelopathy lumbosacral spondylosis without myelopathy spondylosis with myelopathy disease_ontology DOID:2247 spondylosis An bone structure disease that involves degeneration between vertebra located_in vertebral column. url:http://en.wikipedia.org/wiki/Spondylosis url:http://www.mayoclinic.com/health/cervical-spondylosis/DS00697 url:http://www.nlm.nih.gov/medlineplus/ency/article/000436.htm url:http://www.spine-health.com/conditions/back-pain/spondylosis-what-it-actually-means url:http://www.spineuniverse.com/conditions/spondylosis/spondylosis Lumbar spondylosis with myelopathy (disorder) SNOMEDCT_2005_07_31:67437007 Spondylogenic compression of lumbar spinal cord MTHICD9_2006:721.42 Spondylogenic compression of thoracic spinal cord MTHICD9_2006:721.41 Spondylosis with myelopathy (disorder) SNOMEDCT_2005_07_31:79232007 A disease comprised of a group of signs and symptoms that occur together and characterize a particular abnormality. MESH:D013577 NCI:C28193 SNOMEDCT_US_2016_03_01:64572001 UMLS_CUI:C0039082 disease_ontology DOID:225 syndrome A disease comprised of a group of signs and symptoms that occur together and characterize a particular abnormality. URL:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=syndrome ICD10CM:N88.4 ICD9CM:622.6 SNOMEDCT_US_2016_03_01:198353000 SNOMEDCT_US_2016_03_01:35863000 UMLS_CUI:C0020561 disease_ontology DOID:2251 hypertrophic elongation of cervix MESH:D002577 NCI:C40241 SNOMEDCT_US_2016_03_01:156010005 SNOMEDCT_US_2016_03_01:156014001 SNOMEDCT_US_2016_03_01:266661001 SNOMEDCT_US_2016_03_01:286988004 SNOMEDCT_US_2016_03_01:63339007 UMLS_CUI:C0007867 disease_ontology DOID:2253 cervix disease disease_ontology DOID:2255 short rib-polydactyly syndrome true A bone development disease that results_in defective development of cartilage or bone. DOID:1764 ICD10CM:Q78.9 ICD9CM:756.4 MESH:D010009 NCI:C34466 NCI:C84978 OMIM:215050 SNOMEDCT_US_2016_03_01:105985007 SNOMEDCT_US_2016_03_01:205510001 SNOMEDCT_US_2016_03_01:205539001 SNOMEDCT_US_2016_03_01:240190009 SNOMEDCT_US_2016_03_01:268350005 SNOMEDCT_US_2016_03_01:378007 SNOMEDCT_US_2016_03_01:67988000 UMLS_CUI:C0008449 UMLS_CUI:C0029422 Cartilage Development disorder Congenital anomaly of cartilage (disorder) Osteochondrodysplasia syndrome (disorder) chondrodystrophy disease_ontology DOID:2256 osteochondrodysplasia A bone development disease that results_in defective development of cartilage or bone. url:http://en.wikipedia.org/wiki/Osteochondrodysplasia url:http://www.medcyclopaedia.com/library/topics/volume_iii_1/o/osteochondrodysplasia.aspx Cartilage Development disorder NCI2004_11_17:C34466 Congenital anomaly of cartilage (disorder) SNOMEDCT_2005_07_31:67988000 Osteochondrodysplasia syndrome (disorder) SNOMEDCT_2005_07_31:105985007 DOID:0060034 Spirochetes infectious disease disease_ontology DOID:2257 primary Spirochaetales infectious disease true Treponema infection Treponemal disease Treponemal infection Treponemal infectious disease disease_ontology DOID:2265 Treponema infectious disease true Treponema infection CSP2005:0368-3344 Treponemal disease SNOMEDCT_2005_07_31:76272004 Treponemal infection SNOMEDCT_2005_07_31:186904000 Ankylosis is a arthropathy where there is a stiffness of a joint, the result of injury or disease. The rigidity may be complete or partial and may be due to inflammation of the tendinous or muscular structures outside the joint or of the tissues of the joint itself. ICD10CM:M24.6 ICD9CM:718.5 ICD9CM:718.50 MESH:D000844 SNOMEDCT_US_2016_03_01:111227009 SNOMEDCT_US_2016_03_01:156559001 SNOMEDCT_US_2016_03_01:156569007 SNOMEDCT_US_2016_03_01:202297005 SNOMEDCT_US_2016_03_01:202323002 SNOMEDCT_US_2016_03_01:36504009 UMLS_CUI:C0003090 disease_ontology DOID:227 ankylosis Ankylosis is a arthropathy where there is a stiffness of a joint, the result of injury or disease. The rigidity may be complete or partial and may be due to inflammation of the tendinous or muscular structures outside the joint or of the tissues of the joint itself. url:http://en.wikipedia.org/wiki/Ankylosis A candidiasis that involves fungal infection of the oropharynx in immunocompromised patients caused by Candida species resulting in formation of white plaques on the buccal mucosa, tongue, gums, palate, or pharynx. The symptoms include burning or dryness of the mouth, loss of taste, and pain on swallowing. Oropharyngeal Candidiasis oropharyngeal thrush disease_ontology DOID:2271 oropharyngeal candidiasis true A candidiasis that involves fungal infection of the oropharynx in immunocompromised patients caused by Candida species resulting in formation of white plaques on the buccal mucosa, tongue, gums, palate, or pharynx. The symptoms include burning or dryness of the mouth, loss of taste, and pain on swallowing. url:http://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/ Oropharyngeal Candidiasis NCI2004_11_17:C4985 A candidiasis that involves fungal infection of the vaginal mucous membranes in women caused by Candida albicans. The symptoms include intense vulval pruritus, burning, erythema and dyspareunia associated with a creamy white, curd-like discharge. ICD10CM:B37.3 ICD9CM:112.1 MESH:D002181 NCI:C2914 SNOMEDCT_US_2016_03_01:154404004 SNOMEDCT_US_2016_03_01:187009004 SNOMEDCT_US_2016_03_01:266155003 SNOMEDCT_US_2016_03_01:72605008 UMLS_CUI:C0700345 Candidal vulvovaginitis Candidal vulvovaginitis (disorder) Candidal vulvovaginitis NOS (disorder) Candidal: [vulvovaginitis NOS] or [cervix] Candidiasis of vulva and vagina Monilial vulvovaginitis Vulvovaginal Candidiasis disease_ontology DOID:2272 vulvovaginal candidiasis A candidiasis that involves fungal infection of the vaginal mucous membranes in women caused by Candida albicans. The symptoms include intense vulval pruritus, burning, erythema and dyspareunia associated with a creamy white, curd-like discharge. url:http://en.wikipedia.org/wiki/Vulvovaginal_candidiasis url:http://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/ Candidal vulvovaginitis SNOMEDCT_2005_07_31:154404004 Candidal vulvovaginitis (disorder) SNOMEDCT_2005_07_31:72605008 Candidal vulvovaginitis NOS (disorder) SNOMEDCT_2005_07_31:266155003 Candidal: [vulvovaginitis NOS] or [cervix] SNOMEDCT_2005_07_31:187009004 Candidiasis of vulva and vagina ICD9CM_2006:112.1 Monilial vulvovaginitis MTHICD9_2006:112.1 Vulvovaginal Candidiasis NCI2004_11_17:C2914 ICD10CM:N76.0 MESH:D014848 NCI:C35131 SNOMEDCT_US_2016_03_01:155981006 SNOMEDCT_US_2016_03_01:198215008 SNOMEDCT_US_2016_03_01:266655004 SNOMEDCT_US_2016_03_01:53277000 UMLS_CUI:C0042998 Vulvo-vaginitis disease_ontology DOID:2273 vulvovaginitis Vulvo-vaginitis SNOMEDCT_2005_07_31:266655004 An upper respiratory tract disease involving inflammation of the throat or pharynx resulting from bacterial, viral, fungal infections or irritants like pollutants or chemical substances and smoking. The infection is often referred to as "sore throat". The symptoms include pain during swallowing, enlarged tonsils coated with a white discharge, runny nose, cough and slight fever. DOID:10455 DOID:11586 DOID:11588 DOID:938 DOID:939 ICD10CM:J02 ICD10CM:J02.9 ICD9CM:462 ICD9CM:472 ICD9CM:478.20 MESH:D010608 MESH:D010612 NCI:C26850 NCI:C26851 NCI:C34355 SNOMEDCT_US_2016_03_01:141458004 SNOMEDCT_US_2016_03_01:155502006 SNOMEDCT_US_2016_03_01:155521003 SNOMEDCT_US_2016_03_01:164261009 SNOMEDCT_US_2016_03_01:195654001 SNOMEDCT_US_2016_03_01:195664005 SNOMEDCT_US_2016_03_01:195763009 SNOMEDCT_US_2016_03_01:195784004 SNOMEDCT_US_2016_03_01:195832000 SNOMEDCT_US_2016_03_01:266379007 SNOMEDCT_US_2016_03_01:266383007 SNOMEDCT_US_2016_03_01:27321001 SNOMEDCT_US_2016_03_01:363746003 SNOMEDCT_US_2016_03_01:367427004 SNOMEDCT_US_2016_03_01:37616004 SNOMEDCT_US_2016_03_01:405737000 SNOMEDCT_US_2016_03_01:75860007 UMLS_CUI:C0001344 UMLS_CUI:C0031345 UMLS_CUI:C0031350 UMLS_CUI:C0155824 Inflamed throat Persistent sore throat Pharyngeal disorder Pharyngitis - acute Sore throat - chronic acute pharyngitis acute sore throat chronic pharyn/nasopharyngitis chronic pharyngitis chronic pharyngitis and nasopharyngitis chronic sore throat disease_ontology pharyngeal disease DOID:2275 pharyngitis An upper respiratory tract disease involving inflammation of the throat or pharynx resulting from bacterial, viral, fungal infections or irritants like pollutants or chemical substances and smoking. The infection is often referred to as "sore throat". The symptoms include pain during swallowing, enlarged tonsils coated with a white discharge, runny nose, cough and slight fever. url:http://en.wikipedia.org/wiki/Pharyngitis url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A5016 Inflamed throat SNOMEDCT_2005_07_31:141458004 Persistent sore throat SNOMEDCT_2005_07_31:275488008 Pharyngeal disorder NCI2004_11_17:C26850 Pharyngitis - acute SNOMEDCT_2005_07_31:155502006 SNOMEDCT_2005_07_31:266379007 Sore throat - chronic SNOMEDCT_2005_07_31:139659001 SNOMEDCT_2005_07_31:162389005 acute pharyngitis ICD9CM_2006:462 SNOMEDCT_2005_07_31:195654001 acute sore throat SNOMEDCT_2005_07_31:367427004 chronic pharyn/nasopharyngitis SNOMEDCT_2005_07_31:155521003 SNOMEDCT_2005_07_31:266383007 chronic pharyngitis ICD9CM_2006:472.1 SNOMEDCT_2005_07_31:155523000 An endocrine system disease that is located_in the gonads. MESH:D006058 NCI:C26786 UMLS_CUI:C0018050 disease_ontology DOID:2277 gonadal disease An endocrine system disease that is located_in the gonads. url:http://semmelweis.hu/belgyogyaszat3/files/2011/05/drigazp-gonaddiseasesenglishiii-publicversion.pdf disease_ontology DOID:2279 joint derangement true ICD10CM:L73.2 MESH:D017497 OMIM:142690 OMIM:613736 OMIM:613737 SNOMEDCT_US_2016_03_01:156417004 SNOMEDCT_US_2016_03_01:201204008 SNOMEDCT_US_2016_03_01:267866004 SNOMEDCT_US_2016_03_01:59393003 UMLS_CUI:C0162836 Acne inversa, familial Hidradenitis suppurativa Hidradenitis suppurativa (disorder) disease_ontology DOID:2280 OMIM mapping confirmed by DO. [SN]. hidradenitis suppurativa Hidradenitis suppurativa MTHICD9_2006:705.83 Hidradenitis suppurativa SNOMEDCT_2005_07_31:156417004 Hidradenitis suppurativa SNOMEDCT_2005_07_31:201204008 Hidradenitis suppurativa SNOMEDCT_2005_07_31:267866004 Hidradenitis suppurativa (disorder) SNOMEDCT_2005_07_31:59393003 ICD9CM:705.83 MESH:D016575 NCI:C112190 SNOMEDCT_US_2016_03_01:156417004 SNOMEDCT_US_2016_03_01:201204008 SNOMEDCT_US_2016_03_01:267814008 SNOMEDCT_US_2016_03_01:267866004 SNOMEDCT_US_2016_03_01:69741000 UMLS_CUI:C0085160 Hidradenitis (disorder) Hydradenitis disease_ontology DOID:2282 hidradenitis Hidradenitis (disorder) SNOMEDCT_2005_07_31:69741000 Hydradenitis SNOMEDCT_2005_07_31:156417004 Hydradenitis SNOMEDCT_2005_07_31:267866004 NCI:C27012 UMLS_CUI:C0235270 disease_ontology DOID:2283 keratopathy NCI:C27509 SNOMEDCT_US_2016_03_01:445492005 UMLS_CUI:C1333176 disease_ontology cutaneous lymphangioma DOID:2286 capillary lymphangioma A reproductive system disease that impairs the ability to reproduce and is located in the uterus, vagina, cervix, ovaries or fallopian tubes. ICD9CM:629.9 MESH:D005831 SNOMEDCT_US_2016_03_01:156032001 SNOMEDCT_US_2016_03_01:156066005 SNOMEDCT_US_2016_03_01:198486002 SNOMEDCT_US_2016_03_01:244938009 SNOMEDCT_US_2016_03_01:266680004 SNOMEDCT_US_2016_03_01:310789003 SNOMEDCT_US_2016_03_01:38233001 UMLS_CUI:C0017411 disease_ontology DOID:229 female reproductive system disease A reproductive system disease that impairs the ability to reproduce and is located in the uterus, vagina, cervix, ovaries or fallopian tubes. url:http://en.wikipedia.org/wiki/Female_reproductive_system url:http://en.wikipedia.org/wiki/Reproductive_system_disease A primary bacterial infectious disease that involves systemic infection, has_material_basis_in Leptospira, which is transmitted_by contact with water, food, or soil containing urine from the infected animals. The infection has_symptom jaundice, has_symptom chills, has_symptom fever, has_symptom muscle pain, and has_symptom hepatomegaly. DOID:11348 ICD10CM:A27 ICD10CM:A27.0 ICD10CM:A27.9 ICD9CM:100 ICD9CM:100.0 ICD9CM:100.9 MESH:D007922 MESH:D014895 NCI:C84825 SNOMEDCT_US_2016_03_01:154391003 SNOMEDCT_US_2016_03_01:186953000 SNOMEDCT_US_2016_03_01:186954006 SNOMEDCT_US_2016_03_01:186958009 SNOMEDCT_US_2016_03_01:186959001 SNOMEDCT_US_2016_03_01:187311001 SNOMEDCT_US_2016_03_01:266213004 SNOMEDCT_US_2016_03_01:398067003 SNOMEDCT_US_2016_03_01:398222003 SNOMEDCT_US_2016_03_01:50574007 SNOMEDCT_US_2016_03_01:69092001 SNOMEDCT_US_2016_03_01:77377001 UMLS_CUI:C0023364 UMLS_CUI:C0043102 Fort Bragg fever Leptospirosis icterohaemorrhagica Rat Catcher's Yellows Weil's disease nanukayami fever spirochetal jaundice disease_ontology DOID:2297 leptospirosis A primary bacterial infectious disease that involves systemic infection, has_material_basis_in Leptospira, which is transmitted_by contact with water, food, or soil containing urine from the infected animals. The infection has_symptom jaundice, has_symptom chills, has_symptom fever, has_symptom muscle pain, and has_symptom hepatomegaly. url:http://en.wikipedia.org/wiki/Leptospirosis Leptospirosis icterohaemorrhagica SNOMEDCT_2005_07_31:186954006 Weil's disease SNOMEDCT_2005_07_31:154391003 SNOMEDCT_2005_07_31:266213004 spirochetal jaundice CSP2005:0368-3335 A motor neuron disease characterized by painless but progressive weakness and stiffness of the muscles of the legs. ICD10CM:G12.29 ICD9CM:335.24 MESH:D016472 OMIM:611637 ORDO:35689 SNOMEDCT_US_2016_03_01:81211007 UMLS_CUI:C0154682 adult-onset primary lateral sclerosis primary lateral sclerosis disease_ontology DOID:230 Xref MGI. lateral sclerosis A motor neuron disease characterized by painless but progressive weakness and stiffness of the muscles of the legs. url:http://en.wikipedia.org/wiki/Primary_lateral_sclerosis url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/645/viewAbstract primary lateral sclerosis ICD9CM_2006:335.24 A bone structure disease that involves a defect located_in lumbar vertebral column. ICD10CM:M43.0 ICD10CM:M43.00 MESH:D013169 NCI:C35034 SNOMEDCT_US_2016_03_01:203688008 SNOMEDCT_US_2016_03_01:240221008 UMLS_CUI:C0038018 disease_ontology DOID:2300 spondylolysis A bone structure disease that involves a defect located_in lumbar vertebral column. url:http://emedicine.medscape.com/article/395916-overview url:http://en.wikipedia.org/wiki/Spondylolysis url:http://my.clevelandclinic.org/disorders/back_pain/hic_spondylolysis.aspx url:http://orthoinfo.aaos.org/topic.cfm?topic=a00053 url:http://www.umm.edu/spinecenter/education/spondylolysis_spondylolisthesis.htm ICD9CM:602.2 SNOMEDCT_US_2016_03_01:29524003 UMLS_CUI:C0156296 disease_ontology DOID:2301 atrophy of prostate A specific developmental disorder that is characterized by repeated, rhythmic, purposeless movements or activities such as head banging, nail biting, or body rocking. ICD10CM:F98.4 ICD9CM:307.3 MESH:D019956 SNOMEDCT_US_2016_03_01:5507002 UMLS_CUI:C0038273 Stereotyped repetitive movements NOS (finding) Stereotypy habit disorder disease_ontology DOID:2303 stereotypic movement disorder A specific developmental disorder that is characterized by repeated, rhythmic, purposeless movements or activities such as head banging, nail biting, or body rocking. url:http://www.minddisorders.com/Py-Z/Stereotypic-movement-disorder.html Stereotyped repetitive movements NOS (finding) SNOMEDCT_2005_07_31:191993004 Stereotypy habit disorder SNOMEDCT_2005_07_31:5507002 A neurodegenerative disease that is located_in the motor neurones. ICD10CM:G12.2 ICD10CM:G12.20 ICD9CM:335.2 MESH:D016472 SNOMEDCT_US_2016_03_01:155015007 SNOMEDCT_US_2016_03_01:192888001 SNOMEDCT_US_2016_03_01:192889009 SNOMEDCT_US_2016_03_01:192890000 SNOMEDCT_US_2016_03_01:37340000 UMLS_CUI:C0085084 disease_ontology DOID:231 motor neuron disease A neurodegenerative disease that is located_in the motor neurones. url:http://en.wikipedia.org/wiki/Motor_neuron_disease An opportunistic bacterial infectious disease that results_in disseminated infection in immunocompromised hosts, has_material_basis_in Nocardia asteroides. The infection has_symptom pneumonia, has_symptom cellulitis, has_symptom lesions in the brain or meninges, and has_symptom ascending regional lymphadenopathy. ICD10CM:A43 ICD10CM:A43.9 MESH:D009617 SNOMEDCT_US_2016_03_01:186404005 SNOMEDCT_US_2016_03_01:187337003 SNOMEDCT_US_2016_03_01:29227009 UMLS_CUI:C0028242 Nocardia infectious disease disease_ontology DOID:2312 nocardiosis An opportunistic bacterial infectious disease that results_in disseminated infection in immunocompromised hosts, has_material_basis_in Nocardia asteroides. The infection has_symptom pneumonia, has_symptom cellulitis, has_symptom lesions in the brain or meninges, and has_symptom ascending regional lymphadenopathy. url:http://emedicine.medscape.com/article/224123-clinical url:http://en.wikipedia.org/wiki/Nocardiosis Actinomycetales infection disease_ontology DOID:2313 primary Actinomycetales infectious disease true Actinomycetales infection CSP2005:0368-2354 An extrinsic allergic alveolitis which is caused by inhalation of fungal spores of Aspergillus clavatus and Aspergillus fumigatus from moldy barley. ICD10CM:J67.4 ICD9CM:495.4 SNOMEDCT_US_2016_03_01:25897000 UMLS_CUI:C0155888 Malt workers' lung Malt-workers' lung alveolitis due to aspergillus clavatus malt worker lung disease_ontology DOID:2314 malt worker's lung An extrinsic allergic alveolitis which is caused by inhalation of fungal spores of Aspergillus clavatus and Aspergillus fumigatus from moldy barley. url:http://en.wikipedia.org/wiki/hypersensitivity_pneumonitis url:http://www.mercksource.com/pp/us/cns/cns_hl_dorlands_split.jsp?pg=/ppdocs/us/common/dorlands/dorland/five/000061759.htm Malt workers' lung ICD9CM_2006:495.4 Malt-workers' lung SNOMEDCT_2005_07_31:25897000 MESH:D002545 SNOMEDCT_US_2016_03_01:11890005 SNOMEDCT_US_2016_03_01:193049009 SNOMEDCT_US_2016_03_01:389100007 UMLS_CUI:C0007786 Ischaemic encephalopathy Ischemic encephalopathy (disorder) disease_ontology DOID:2316 brain ischemia Ischaemic encephalopathy SNOMEDCT_2005_07_31:11890005 Ischaemic encephalopathy SNOMEDCT_2005_07_31:193049009 Ischemic encephalopathy (disorder) SNOMEDCT_2005_07_31:389100007 MESH:D008173 UMLS_CUI:C0600260 respiratory airway obstruction disease_ontology DOID:2320 obstructive lung disease respiratory airway obstruction CSP2005:2596-8463 ICD10CM:K30 ICD10CM:R10.13 MESH:D004415 NCI:C26756 SNOMEDCT_US_2016_03_01:139299007 SNOMEDCT_US_2016_03_01:155722007 SNOMEDCT_US_2016_03_01:162031009 SNOMEDCT_US_2016_03_01:196752002 SNOMEDCT_US_2016_03_01:249510006 SNOMEDCT_US_2016_03_01:266505001 SNOMEDCT_US_2016_03_01:87548005 UMLS_CUI:C0013395 Dyspepsia, indigestion NOS indigestion disease_ontology DOID:2321 dyspepsia Dyspepsia, indigestion NOS SNOMEDCT_2005_07_31:266505001 indigestion CSP2005:1249-7609 disease_ontology DOID:2323 prostate non-neoplastic disease true An Enterovirus infectious disease that results_in inflammation located_in meningeal cluster, has_material_basis_in Human enterovirus B, which is transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom headache, and has_symptom neck pain. Coxsackie meningitis (disorder) Coxsackie viral meningitis Meningitis due to coxsackie virus disease_ontology DOID:2324 coxsackie meningitis true An Enterovirus infectious disease that results_in inflammation located_in meningeal cluster, has_material_basis_in Human enterovirus B, which is transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom headache, and has_symptom neck pain. url:http://emedicine.medscape.com/article/215241-overview url:http://kidshealth.org/parent/infections/bacterial_viral/coxsackie.html# Coxsackie meningitis (disorder) SNOMEDCT_2005_07_31:111878007 Coxsackie viral meningitis SNOMEDCT_2005_07_31:186487000 Meningitis due to coxsackie virus ICD9CM_2006:047.0 disease_ontology DOID:2325 enterovirus meningitis true A gastrointestinal system infectious disease that involves inflammation of the lining of the stomach and small and large intestines, which is caused by viruses, bacteria, or parasites. Chemicals and drugs also cause gastroenteritis. The symptoms include diarrhea, loss of appetite, nausea, vomiting, cramps, and discomfort in the abdomen. DOID:4094 DOID:5269 ICD10CM:K52.9 MESH:D005759 NCI:C34632 SNOMEDCT_US_2016_03_01:154278002 SNOMEDCT_US_2016_03_01:197010007 SNOMEDCT_US_2016_03_01:25374005 SNOMEDCT_US_2016_03_01:266179001 UMLS_CUI:C0017160 cholera morbus infectious colitis, enteritis and gastroenteritis disease_ontology DOID:2326 gastroenteritis A gastrointestinal system infectious disease that involves inflammation of the lining of the stomach and small and large intestines, which is caused by viruses, bacteria, or parasites. Chemicals and drugs also cause gastroenteritis. The symptoms include diarrhea, loss of appetite, nausea, vomiting, cramps, and discomfort in the abdomen. url:http://www.merck.com/mmhe/sec09/ch122/ch122a.html A gastrointestinal system infectious disease that involves inflammation of the stomach lining caused by viruses. The symptoms include abdominal pain, indigestion, ulcer formation, abdominal bloating, nausea and vomiting. NCI:C27184 SNOMEDCT_US_2016_03_01:285344007 UMLS_CUI:C0563238 disease_ontology DOID:2327 viral gastritis A gastrointestinal system infectious disease that involves inflammation of the stomach lining caused by viruses. The symptoms include abdominal pain, indigestion, ulcer formation, abdominal bloating, nausea and vomiting. url:http://www.merck.com/mmpe/sec02/ch013/ch013c.html A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Human astrovirus, which is transmitted_by ingestion of contaminated food. The infection has_symptom watery diarrhea, has_symptom nausea, has_symptom abdominal pain, has_symptom vomiting, and has_symptom fever. disease_ontology DOID:2328 astrovirus gastroenteritis true A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Human astrovirus, which is transmitted_by ingestion of contaminated food. The infection has_symptom watery diarrhea, has_symptom nausea, has_symptom abdominal pain, has_symptom vomiting, and has_symptom fever. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2376536/pdf/tacca00082-0119.pdf A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Rotavirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom fever, has_symptom vomiting, has_symptom diarrhea, and has_symptom abdominal pain. Enteritis due to rotavirus (disorder) rotavirus enteritis disease_ontology DOID:2329 Rotavirus gastroenteritis true A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Rotavirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom fever, has_symptom vomiting, has_symptom diarrhea, and has_symptom abdominal pain. url:http://www.cdc.gov/ncidod/dvrd/revb/gastro/faq.htm url:http://www.cdc.gov/rotavirus/about_rotavirus.htm Enteritis due to rotavirus (disorder) SNOMEDCT_2005_07_31:186150001 Tuberculosis of eye Tuberculosis of eye (disorder) Tuberculosis of eye NOS (disorder) Tuberculosis of eye, unspecified examination disease_ontology DOID:233 ocular tuberculosis true Tuberculosis of eye ICD9CM_2006:017.3 Tuberculosis of eye (disorder) SNOMEDCT_2005_07_31:49107007 Tuberculosis of eye NOS (disorder) SNOMEDCT_2005_07_31:186268009 Tuberculosis of eye, unspecified examination ICD9CM_2006:017.30 A carcinoma that is able to grow at sites distant from the primary site of origin. carcinoma, metastatic (morphologic abnormality) carcinoma, metastatic, NOS (morphologic abnormality) metastatic carcinoma disease_ontology DOID:2334 metastatic carcinoma true A carcinoma that is able to grow at sites distant from the primary site of origin. url:http://en.wikipedia.org/wiki/Metastatic_carcinoma carcinoma, metastatic (morphologic abnormality) SNOMEDCT_2005_07_31:79282002 carcinoma, metastatic, NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189550006 metastatic carcinoma SNOMEDCT_2005_07_31:154576004 metastatic carcinoma SNOMEDCT_2005_07_31:269624009 A jaw cancer and mandibular disease that affects your lower jawbone. DOID:12408 ICD10CM:C41.1 ICD9CM:170.1 MESH:D008339 NCI:C35178 SNOMEDCT_US_2016_03_01:126551000 SNOMEDCT_US_2016_03_01:187915001 SNOMEDCT_US_2016_03_01:448668007 UMLS_CUI:C0024694 UMLS_CUI:C0153511 malignant neoplasm of inferior maxilla malignant neoplasm of lower Jaw bone mandible cancer neoplasm of mandible disease_ontology malignant neoplasm of mandible mandibular neoplasm DOID:2338 mandibular cancer A jaw cancer and mandibular disease that affects your lower jawbone. url:http://www.ehow.com/facts_5891679_treatment-cancer-mandible.html malignant neoplasm of inferior maxilla MTHICD9_2006:170.1 malignant neoplasm of lower Jaw bone NCI2004_11_17:C35178 neoplasm of mandible SNOMEDCT_2005_07_31:126551000 A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene. ICD10CM:Q75.1 MESH:D003394 NCI:C84653 OMIM:123500 SNOMEDCT_US_2016_03_01:28861008 UMLS_CUI:C0010273 Craniofacial Dysostosis disease_ontology Crouzon's disease DOID:2339 OMIM mapping confirmed by DO. [SN]. Crouzon syndrome A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene. url:http://emedicine.medscape.com/article/942989-overview url:http://en.wikipedia.org/wiki/Crouzon_syndrome url:http://ghr.nlm.nih.gov/condition/crouzon-syndrome url:http://rarediseases.about.com/cs/crouzonsyndrome/a/011804.htm url:http://www.faces-cranio.org/Disord/Crouzon.htm Crouzon's disease CSP2005:0725-9662 A colon carcinoma that derives_from epithelial cells of glandular origin. NCI:C4349 SNOMEDCT_US_2016_03_01:255082000 UMLS_CUI:C0338106 Colonic adenocarcinoma adenocarcinoma of colon disease_ontology adenocarcinoma of the colon DOID:234 colon adenocarcinoma A colon carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma Colonic adenocarcinoma NCI2004_11_17:C4349 adenocarcinoma of colon SNOMEDCT_2005_07_31:255082000 A synostosis that results_in premature fusion located_in skull. ICD10CM:Q75.0 MESH:D003398 NCI:C84655 OMIM:123100 OMIM:182212 OMIM:600593 OMIM:600775 OMIM:604757 OMIM:615314 OMIM:615529 ORDO:1531 SNOMEDCT_US_2016_03_01:205411004 SNOMEDCT_US_2016_03_01:205414007 SNOMEDCT_US_2016_03_01:57219006 UMLS_CUI:C0010278 Premature closure of cranial sutures disease_ontology DOID:2340 Xref MGI. OMIM mapping confirmed by DO. [SN]. OMIM mapping by NeuroDevNet. [LS]. craniosynostosis A synostosis that results_in premature fusion located_in skull. url:http://en.wikipedia.org/wiki/Craniosynostosis url:http://www.chw.org/display/router.asp?DocID=22502 url:http://www.mayoclinic.com/health/craniosynostosis/DS00959 url:http://www.ninds.nih.gov/disorders/craniosynostosis/craniosynostosis.htm url:http://www.nlm.nih.gov/medlineplus/ency/article/001590.htm Premature closure of cranial sutures MTHICD9_2006:756.0 ICD10CM:D89.0 ICD9CM:273.0 NCI:C35885 SNOMEDCT_US_2016_03_01:190808009 SNOMEDCT_US_2016_03_01:190811005 UMLS_CUI:C0154254 Polyclonal hypergammaglobulinemia Polyclonal hypergammaglobulinemia (disorder) Polyclonal hypergammaglobulinemia NOS (disorder) disease_ontology DOID:2344 polyclonal hypergammaglobulinemia Polyclonal hypergammaglobulinemia NCI2004_11_17:C35885 Polyclonal hypergammaglobulinemia (disorder) SNOMEDCT_2005_07_31:190808009 Polyclonal hypergammaglobulinemia NOS (disorder) SNOMEDCT_2005_07_31:190811005 An inherited metabolic disorder that involves plasma protein metabolism malfunction. ICD9CM:273.8 SNOMEDCT_US_2016_03_01:190822009 SNOMEDCT_US_2016_03_01:190825006 UMLS_CUI:C0029594 disease_ontology DOID:2345 plasma protein metabolism disease An inherited metabolic disorder that involves plasma protein metabolism malfunction. url:http://en.wikipedia.org/wiki/Blood_protein ICD9CM:273.1 NCI:C35878 SNOMEDCT_US_2016_03_01:190812003 SNOMEDCT_US_2016_03_01:267440005 UMLS_CUI:C0026471 Monoclonal Paraproteinemia Monoclonal paraproteinaemia Monoclonal paraproteinemia (disorder) disease_ontology DOID:2346 monoclonal paraproteinemia Monoclonal Paraproteinemia NCI2004_11_17:C35878 Monoclonal paraproteinaemia SNOMEDCT_2005_07_31:190812003 Monoclonal paraproteinemia (disorder) SNOMEDCT_2005_07_31:267440005 ICD10CM:I70.91 ICD9CM:440.9 NCI:C35767 SNOMEDCT_US_2016_03_01:367108003 SNOMEDCT_US_2016_03_01:39823006 UMLS_CUI:C0017327 Generalised atherosclerosis Generalized and unspecified atherosclerosis Generalized atherosclerosis (disorder) disease_ontology DOID:2347 generalized atherosclerosis Generalised atherosclerosis SNOMEDCT_2005_07_31:367108003 Generalized and unspecified atherosclerosis ICD9CM_2006:440.9 Generalized atherosclerosis (disorder) SNOMEDCT_2005_07_31:39823006 ICD10CM:I25.1 ICD10CM:I70 ICD9CM:440 MESH:D050197 NCI:C34403 NCI:C35768 NCI:C35771 SNOMEDCT_US_2016_03_01:155382007 SNOMEDCT_US_2016_03_01:155414001 SNOMEDCT_US_2016_03_01:194848007 SNOMEDCT_US_2016_03_01:195121002 SNOMEDCT_US_2016_03_01:195251000 SNOMEDCT_US_2016_03_01:266318005 SNOMEDCT_US_2016_03_01:38716007 SNOMEDCT_US_2016_03_01:39468009 UMLS_CUI:C0004153 UMLS_CUI:C3665365 Arteriosclerotic Cardiovascular disease Arteriosclerotic cardiovascular disease Arteriosclerotic cardiovascular disease, NOS Atherosclerotic Cardiovascular disease Atherosclerotic cardiovascular disease Cardiovascular arteriosclerosis unspecified (disorder) disease_ontology DOID:2348 arteriosclerotic cardiovascular disease Arteriosclerotic Cardiovascular disease NCI2004_11_17:C34403 Arteriosclerotic cardiovascular disease MTHICD9_2006:429.2 Arteriosclerotic cardiovascular disease, NOS SNOMEDCT_2005_07_31:39468009 Atherosclerotic Cardiovascular disease NCI2004_11_17:C35771 Atherosclerotic cardiovascular disease SNOMEDCT_2005_07_31:195251000 Cardiovascular arteriosclerosis unspecified (disorder) SNOMEDCT_2005_07_31:195121002 An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries. CSP:0571-2299 ICD10CM:I70 MESH:D001161 NCI:C34398 SNOMEDCT_US_2016_03_01:107671003 SNOMEDCT_US_2016_03_01:155414001 SNOMEDCT_US_2016_03_01:155418003 SNOMEDCT_US_2016_03_01:195251000 SNOMEDCT_US_2016_03_01:195257001 SNOMEDCT_US_2016_03_01:266318005 SNOMEDCT_US_2016_03_01:28960008 SNOMEDCT_US_2016_03_01:72092001 UMLS_CUI:C0003850 Arteriosclerosis (morphologic abnormality) Arteriosclerosis NOS Arteriosclerotic vascular disease (disorder) Arteriosclerotic vascular disease NOS disease_ontology DOID:2349 arteriosclerosis An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries. url:http://en.wikipedia.org/wiki/Arteriosclerosis Arteriosclerosis (morphologic abnormality) SNOMEDCT_2005_07_31:28960008 Arteriosclerosis NOS SNOMEDCT_2005_07_31:155414001 Arteriosclerosis NOS SNOMEDCT_2005_07_31:266318005 Arteriosclerotic vascular disease (disorder) SNOMEDCT_2005_07_31:72092001 Arteriosclerotic vascular disease NOS SNOMEDCT_2005_07_31:155418003 An intestinal benign neoplasm that is located_in the colon. MESH:D003110 NCI:C2953 SNOMEDCT_US_2016_03_01:126838000 UMLS_CUI:C0009375 Colonic Mass Colonic tumor colon neoplasm neoplasm of colon (disorder) disease_ontology DOID:235 colonic benign neoplasm An intestinal benign neoplasm that is located_in the colon. url:http://en.wikipedia.org/wiki/Benign_tumor Colonic Mass NCI2004_11_17:C37904 Colonic tumor NCI2004_11_17:C2953 colon neoplasm CSP2005:2010-0360 neoplasm of colon (disorder) SNOMEDCT_2005_07_31:126838000 Iron overload (disorder) disease_ontology DOID:2350 iron overload true Iron overload (disorder) SNOMEDCT_2005_07_31:60737008 ICD10CM:E83.1 ICD10CM:E83.10 ICD9CM:275.0 MESH:D019189 SNOMEDCT_US_2016_03_01:154751003 SNOMEDCT_US_2016_03_01:190851008 SNOMEDCT_US_2016_03_01:267504005 SNOMEDCT_US_2016_03_01:30913008 UMLS_CUI:C0012715 Iron disorder disorder of iron metabolism disorder of iron metabolism (disorder) disorder of iron metabolism NOS (disorder) iron disorder disease_ontology DOID:2351 iron metabolism disease Iron disorder SNOMEDCT_2005_07_31:154751003 Iron disorder SNOMEDCT_2005_07_31:267504005 disorder of iron metabolism ICD9CM_2006:275.0 disorder of iron metabolism (disorder) SNOMEDCT_2005_07_31:30913008 disorder of iron metabolism NOS (disorder) SNOMEDCT_2005_07_31:190851008 iron disorder CSP2005:1630-2859 A metal metabolism disorder characterized by the accumulation of iron in various organs of the body. ICD10CM:E83.11 ICD10CM:E83.110 ICD10CM:E83.119 MESH:D006432 NCI:C84481 OMIM:231100 OMIM:PS235200 ORDO:139498 SNOMEDCT_US_2016_03_01:154751003 SNOMEDCT_US_2016_03_01:267504005 SNOMEDCT_US_2016_03_01:399144008 SNOMEDCT_US_2016_03_01:399187006 SNOMEDCT_US_2016_03_01:86781004 UMLS_CUI:C0018995 Haemochromatosis diabetes bronze iron storage disorder disease_ontology DOID:2352 Xref MGI. hemochromatosis A metal metabolism disorder characterized by the accumulation of iron in various organs of the body. url:http://en.wikipedia.org/wiki/HFE_hereditary_haemochromatosis url:http://ghr.nlm.nih.gov/condition/hemochromatosis url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/13/viewAbstract Haemochromatosis SNOMEDCT_2005_07_31:267504005 diabetes bronze CSP2005:1849-4292 iron storage disorder CSP2005:1630-3927 An aplastic anemia that is characterized by displacement of hemopoietic bone-marrow tissue either by fibrosis, tumors or granulomas. ICD10CM:D61.82 MESH:D000750 NCI:C36218 SNOMEDCT_US_2016_03_01:2694001 UMLS_CUI:C0002890 ANEMIA LEUKOERYTHROBLASTIC Anemia, leukoerythroblastic Leukoerythroblastosis disease_ontology myelophthisis DOID:2354 myelophthisic anemia An aplastic anemia that is characterized by displacement of hemopoietic bone-marrow tissue either by fibrosis, tumors or granulomas. url:http://en.wikipedia.org/wiki/Myelophthisic_anemia ANEMIA LEUKOERYTHROBLASTIC MTH:NOCODE Anemia, leukoerythroblastic MTHICD9_2006:285.8 Leukoerythroblastosis NCI2004_11_17:C36218 A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells. EFO:0004272 ICD10CM:D64.9 ICD9CM:285.9 MESH:D000740 NCI:C2869 SNOMEDCT_US_2016_03_01:154786001 SNOMEDCT_US_2016_03_01:154812000 SNOMEDCT_US_2016_03_01:191277004 SNOMEDCT_US_2016_03_01:267531008 SNOMEDCT_US_2016_03_01:271737000 SNOMEDCT_US_2016_03_01:64593003 UMLS_CUI:C0002871 anaemia disease_ontology DOID:2355 PRISM. anemia A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells. url:http://en.wikipedia.org/wiki/Anemia url:http://www.nhlbi.nih.gov/health/health-topics/topics/anemia/ MESH:D000748 NCI:C34381 SNOMEDCT_US_2016_03_01:191151004 SNOMEDCT_US_2016_03_01:191277004 SNOMEDCT_US_2016_03_01:234356001 SNOMEDCT_US_2016_03_01:83414005 UMLS_CUI:C0002886 ANEMIA MACROCYTIC Macrocytic Anemia Macrocytic anaemia of unspecified cause Macrocytic anemia Macrocytic anemia (disorder) Macrocytic anemia of unspecified cause (disorder) disease_ontology DOID:2361 macrocytic anemia ANEMIA MACROCYTIC MTH:NOCODE Macrocytic Anemia NCI2004_11_17:C34381 Macrocytic anaemia of unspecified cause SNOMEDCT_2005_07_31:191151004 Macrocytic anaemia of unspecified cause SNOMEDCT_2005_07_31:191277004 Macrocytic anemia MTHICD9_2006:281.9 Macrocytic anemia (disorder) SNOMEDCT_2005_07_31:83414005 Macrocytic anemia of unspecified cause (disorder) SNOMEDCT_2005_07_31:234356001 A venous insufficiency that is characterized by aching pain, heaviness, swelling, cramps, itching, or tingling in the affected limb and is a chronic complication of deep venous thrombosis. DOID:12820 DOID:2363 DOID:2720 ICD10CM:I87.0 ICD9CM:459.1 ICD9CM:459.11 ICD9CM:459.12 ICD9CM:459.13 MESH:D011186 SNOMEDCT_US_2016_03_01:155460004 SNOMEDCT_US_2016_03_01:20427003 SNOMEDCT_US_2016_03_01:410013001 UMLS_CUI:C0032807 UMLS_CUI:C1135219 UMLS_CUI:C1135220 UMLS_CUI:C1135221 Postphlebetic syndrome with inflammation Postphlebetic syndrome with ulcer Postphlebetic syndrome with ulcer and inflammation postphlebitic syndrome venous stress disorder disease_ontology DOID:2364 post-thrombotic syndrome A venous insufficiency that is characterized by aching pain, heaviness, swelling, cramps, itching, or tingling in the affected limb and is a chronic complication of deep venous thrombosis. url:http://en.wikipedia.org/wiki/Post-thrombotic_syndrome url:http://www.ncbi.nlm.nih.gov/pubmed/21239797 A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in West Nile virus, which is transmitted_by Culex, transmitted_by Aedes, and transmitted_by Anopheles species of mosquitoes. The infection has_symptom high fever, has_symptom headache, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, has_symptom muscle weakness, has_symptom vision loss, has_symptom numbness, and has_symptom paralysis. ICD10CM:A92.31 ICD9CM:066.41 MESH:D014901 SNOMEDCT_US_2016_03_01:392662004 UMLS_CUI:C0751583 West Nile Fever with encephalitis West Nile fever encephalitis disease_ontology DOID:2365 West Nile encephalitis A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in West Nile virus, which is transmitted_by Culex, transmitted_by Aedes, and transmitted_by Anopheles species of mosquitoes. The infection has_symptom high fever, has_symptom headache, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, has_symptom muscle weakness, has_symptom vision loss, has_symptom numbness, and has_symptom paralysis. url:http://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm url:http://www.cdc.gov/ncidod/dvbid/westnile/wnv_factsheet.htm West Nile Fever with encephalitis ICD9CM_2006:066.41 West Nile fever encephalitis MTHICD9_2006:066.41 A viral infectious disease that results_in infection, has_material_basis_in West Nile virus, which is transmitted_by Culex and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom body ache, has_symptom nausea, has_symptom maculopapular rash and has_symptom vomiting. ICD10CM:A92.3 ICD10CM:A92.30 ICD9CM:066.4 ICD9CM:066.40 MESH:D014901 SNOMEDCT_US_2016_03_01:12381007 SNOMEDCT_US_2016_03_01:417093003 UMLS_CUI:C0043124 disease_ontology DOID:2366 West Nile fever A viral infectious disease that results_in infection, has_material_basis_in West Nile virus, which is transmitted_by Culex and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom body ache, has_symptom nausea, has_symptom maculopapular rash and has_symptom vomiting. url:http://www.cdc.gov/ncidod/eid/vol5no5/hubalek.htm url:http://www.cfsph.iastate.edu/FastFacts/pdfs/west_nile_fever_F.pdf MESH:D019150 SNOMEDCT_US_2016_03_01:230365004 UMLS_CUI:C0338473 disease_ontology DOID:2367 neuroaxonal dystrophy ICD10CM:E75.10 MESH:D005733 SNOMEDCT_US_2016_03_01:50967008 UMLS_CUI:C0017083 mucolipidosis type IV disease_ontology DOID:2368 gangliosidosis Diabetes mellitus juvenile type, not stated as uncontrolled, with renal manifestations Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with renal manifestations disease_ontology DOID:2369 diabetes mellitus insulin dependent type not stated as uncontrolled with renal manifestations true Diabetes mellitus juvenile type, not stated as uncontrolled, with renal manifestations MTHICD9_2006:250.41 Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with renal manifestations ICD9CM_2006:250.41 adhesions and disruptions of iris and ciliary body (disorder) adhesions and disruptions of iris and ciliary body NOS (disorder) disease_ontology DOID:237 adhesions and disruptions of iris and ciliary body true adhesions and disruptions of iris and ciliary body (disorder) SNOMEDCT_2005_07_31:267624002 adhesions and disruptions of iris and ciliary body NOS (disorder) SNOMEDCT_2005_07_31:193526000 disease_ontology DOID:2370 diabetic nephropathy true A hematopoietic system disease characterized by oval or elliptical red blood cells, slight or absent hemolysis with little or no anemia; splenomegaly is often present. ICD10CM:D58.1 ICD9CM:282.1 MESH:D004612 NCI:C35882 NCI:C36293 OMIM:130600 OMIM:611804 ORDO:288 SNOMEDCT_US_2016_03_01:154801000 SNOMEDCT_US_2016_03_01:178935009 SNOMEDCT_US_2016_03_01:191169008 SNOMEDCT_US_2016_03_01:267558001 SNOMEDCT_US_2016_03_01:58864003 UMLS_CUI:C0013902 Congenital elliptocytosis ovalocytosis disease_ontology DOID:2373 Xref MGI. OMIM mapping confirmed by DO. [SN]. hereditary elliptocytosis A hematopoietic system disease characterized by oval or elliptical red blood cells, slight or absent hemolysis with little or no anemia; splenomegaly is often present. url:http://en.wikipedia.org/wiki/Hereditary_elliptocytosis url:http://www.merckmanuals.com/professional/hematology_and_oncology/anemias_caused_by_hemolysis/hereditary_spherocytosis_and_hereditary_elliptocytosis.html ovalocytosis CSP2005:0427-1524 chronic progressive multiple sclerosis (disorder) disease_ontology DOID:2376 This term is being deleted, as it is a deprecated term, no longer used in clinical practice. [LS] chronic progressive multiple sclerosis true chronic progressive multiple sclerosis (disorder) SNOMEDCT_2005_07_31:230373008 A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring. EFO:0003885 ICD10CM:G35 ICD9CM:340 MESH:D009103 NCI:C3243 OMIM:126200 OMIM:612594 OMIM:612595 OMIM:612596 OMIM:614810 SNOMEDCT_US_2016_03_01:155023009 SNOMEDCT_US_2016_03_01:192928003 SNOMEDCT_US_2016_03_01:192930001 SNOMEDCT_US_2016_03_01:24700007 UMLS_CUI:C0026769 Generalized multiple sclerosis (disorder) insular sclerosis disease_ontology DOID:2377 OMIM mapping confirmed by DO. [LS]. multiple sclerosis A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring. url:http://en.wikipedia.org/wiki/Multiple_sclerosis Generalized multiple sclerosis (disorder) SNOMEDCT_2005_07_31:192928003 insular sclerosis CSP2005:2042-2324 A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). Symptoms may vary from mild to severe, and relapses and remissions may last for days or months. More than 80 percent of people who have MS begin with relapsing-remitting cycles. EFO:0003929 MESH:D020529 SNOMEDCT_US_2016_03_01:426373005 UMLS_CUI:C0751967 RRMS Relapsing-remitting MS disease_ontology DOID:2378 relapsing-remitting multiple sclerosis A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). Symptoms may vary from mild to severe, and relapses and remissions may last for days or months. More than 80 percent of people who have MS begin with relapsing-remitting cycles. url:http://www.mayoclinic.org/multiple-sclerosis/types.html MESH:D011681 SNOMEDCT_US_2016_03_01:68633000 UMLS_CUI:C0034124 Pupillary disorder disease_ontology DOID:238 pupil disease Pupillary disorder SNOMEDCT_2005_07_31:68633000 A cholera that involves infection of the intestine caused by Vibrio cholerae serogroup O1 biovar El Tor. DOID:0050005 Cholera due to Vibrio cholerae El Tor (disorder) Cholera due to Vibrio cholerae el tor Vibrio cholerae 01 biovar cholerae cholera Vibrio cholerae O1 biovar eltor cholera Vibrio cholerae biovar El Tor cholera Vibrio cholerae el tor cholera cholera due to Vibrio cholerae 01 biovar cholerae disease_ontology Cholera due to Vibrio cholerae 01, biovar el tor DOID:2381 Vibrio cholerae O1 biovar El Tor cholera true A cholera that involves infection of the intestine caused by Vibrio cholerae serogroup O1 biovar El Tor. url:http://www.cdc.gov/nczved/divisions/dfbmd/diseases/cholera/technical.html#agent Cholera due to Vibrio cholerae El Tor (disorder) SNOMEDCT_2005_07_31:81020007 Cholera due to Vibrio cholerae el tor ICD9CM_2006:001.1 A brain disease that is characterized by hyperbilirubinemia-induced brain dysfunction. ICD10CM:P57 ICD10CM:P57.9 MESH:D007647 NCI:C84799 SNOMEDCT_US_2016_03_01:157135006 SNOMEDCT_US_2016_03_01:206479002 SNOMEDCT_US_2016_03_01:230770008 SNOMEDCT_US_2016_03_01:268880009 SNOMEDCT_US_2016_03_01:50143004 SNOMEDCT_US_2016_03_01:74925009 UMLS_CUI:C0022610 bilirubin encephalopathy disease_ontology DOID:2382 kernicterus A brain disease that is characterized by hyperbilirubinemia-induced brain dysfunction. url:https://en.wikipedia.org/wiki/Kernicterus url:https://www.nlm.nih.gov/medlineplus/ency/article/007309.htm bilirubin encephalopathy CSP2005:1653-7303 A pigmentation disease characterized by a high level of bilirubin in the blood, causing a yellowing of the skin and other tissues of a newborn infant. ICD10CM:P59.9 MESH:D007567 NCI:C99246 SNOMEDCT_US_2016_03_01:111470007 SNOMEDCT_US_2016_03_01:206474007 SNOMEDCT_US_2016_03_01:276549000 SNOMEDCT_US_2016_03_01:299968002 SNOMEDCT_US_2016_03_01:30235009 SNOMEDCT_US_2016_03_01:31482007 SNOMEDCT_US_2016_03_01:387712008 UMLS_CUI:C0022353 neonatal hyperbilirubinemia neonatal icterus disease_ontology DOID:2383 neonatal jaundice A pigmentation disease characterized by a high level of bilirubin in the blood, causing a yellowing of the skin and other tissues of a newborn infant. url:http://en.wikipedia.org/wiki/Neonatal_jaundice url:http://www.nlm.nih.gov/medlineplus/ency/article/001559.htm A brain disease that is characterised by the presence of neurological symptoms of ophthalmoplegia, ataxia, and confusion caused by biochemical lesions of the central nervous system after exhaustion of B-vitamin reserves, in particular thiamine (vitamin B1). ICD10CM:E51.2 MESH:D014899 SNOMEDCT_US_2016_03_01:190626005 SNOMEDCT_US_2016_03_01:190627001 SNOMEDCT_US_2016_03_01:21007002 UMLS_CUI:C0043121 Wernicke's disease Wernicke's encephalopathy disease_ontology DOID:2384 Wernicke encephalopathy A brain disease that is characterised by the presence of neurological symptoms of ophthalmoplegia, ataxia, and confusion caused by biochemical lesions of the central nervous system after exhaustion of B-vitamin reserves, in particular thiamine (vitamin B1). url:https://en.wikipedia.org/wiki/Wernicke%27s_encephalopathy Wernicke's disease SNOMEDCT_2005_07_31:21007002 Wernicke's encephalopathy SNOMEDCT_2005_07_31:190626005 Thiamin deficiency (disorder) Thiamine deficiency Thiamine deficiency, unspecified Thiamine deficiency, unspecified (disorder) thiamine deficiency vitamin B1 deficiency disease_ontology DOID:2385 thiamine deficiency true Thiamin deficiency (disorder) SNOMEDCT_2005_07_31:35843007 Thiamin deficiency (disorder) SNOMEDCT_2005_07_31:399357009 Thiamine deficiency SNOMEDCT_2005_07_31:154725000 Thiamine deficiency SNOMEDCT_2005_07_31:267491008 Thiamine deficiency, unspecified SNOMEDCT_2005_07_31:190628006 Thiamine deficiency, unspecified (disorder) SNOMEDCT_2005_07_31:191088004 thiamine deficiency CSP2005:2116-7354 vitamin B1 deficiency SNOMEDCT_2005_07_31:190624008 ICD9CM:593.81 NCI:C35338 SNOMEDCT_US_2016_03_01:16934004 SNOMEDCT_US_2016_03_01:197814004 SNOMEDCT_US_2016_03_01:266559003 UMLS_CUI:C0268790 renal vascular disease vascular disorder of kidney disease_ontology DOID:2388 renal artery disease vascular disorder of kidney ICD9CM_2006:593.81 Fibromuscular dysplasia (morphologic abnormality) Fibromuscular hyperplasia of arteries NOS (disorder) Fibromuscular hyperplasia of artery Fibromuscular hyperplasia of artery (disorder) Fibromuscular hyperplasia of artery [Ambiguous] disease_ontology DOID:2389 fibromuscular dysplasia true Fibromuscular dysplasia (morphologic abnormality) SNOMEDCT_2005_07_31:31653004 Fibromuscular hyperplasia of arteries NOS (disorder) SNOMEDCT_2005_07_31:195370007 Fibromuscular hyperplasia of artery SNOMEDCT_2005_07_31:195371006 Fibromuscular hyperplasia of artery (disorder) SNOMEDCT_2005_07_31:359553002 Fibromuscular hyperplasia of artery [Ambiguous] SNOMEDCT_2005_07_31:234023007 coredialysis disease_ontology DOID:239 iridodialysis true NCI:C39860 SNOMEDCT_US_2016_03_01:72815004 UMLS_CUI:C0268837 disease_ontology cystitis glandularis DOID:2392 glandular cystitis A female reproductive organ cancer that is located_in the ovary. DOID:0060070 DOID:2144 DOID:9595 ICD10CM:C56 ICD9CM:183.0 MESH:D010051 NCI:C4984 NCI:C7431 OMIM:167000 OMIM:607893 ORDO:213517 SNOMEDCT_US_2016_03_01:123843001 SNOMEDCT_US_2016_03_01:154528000 SNOMEDCT_US_2016_03_01:363443007 SNOMEDCT_US_2016_03_01:372117006 SNOMEDCT_US_2016_03_01:93934004 UMLS_CUI:C0919267 UMLS_CUI:C1140680 UMLS_CUI:C1299247 malignant Ovarian tumor malignant tumour of ovary ovarian neoplasm ovary neoplasm primary ovarian cancer tumor of the Ovary disease_ontology DOID:2394 Xref MGI. OMIM mapping confirmed by DO. [SN]. ovarian cancer A female reproductive organ cancer that is located_in the ovary. url:http://www.cancer.gov/dictionary?CdrID=445074 malignant Ovarian tumor NCI2004_11_17:C7431 malignant tumour of ovary SNOMEDCT_2005_07_31:154528000 ovarian neoplasm MTH:NOCODE ovary neoplasm CSP2005:2016-1387 tumor of the Ovary NCI2004_11_17:C4984 Clear cell tumor of ovary (disorder) disease_ontology DOID:2399 ovarian clear cell neoplasm true Clear cell tumor of ovary (disorder) SNOMEDCT_2005_07_31:254853007 MESH:D007499 NCI:C34737 SNOMEDCT_US_2016_03_01:155116005 SNOMEDCT_US_2016_03_01:267719008 SNOMEDCT_US_2016_03_01:85478004 UMLS_CUI:C0022078 disease_ontology DOID:240 iris disease DOID:2400 ICD10CM:C51.2 ICD9CM:184.3 NCI:C3557 NCI:C9362 SNOMEDCT_US_2016_03_01:154535008 SNOMEDCT_US_2016_03_01:188213003 SNOMEDCT_US_2016_03_01:269604005 SNOMEDCT_US_2016_03_01:371979001 SNOMEDCT_US_2016_03_01:93758009 UMLS_CUI:C0153589 UMLS_CUI:C1333070 Clitoral Ca carcinoma of Clitoris clitoral cancer malignant neoplasm of clitoris (disorder) malignant tumor of Clitoris disease_ontology DOID:2401 clitoris cancer Clitoral Ca SNOMEDCT_2005_07_31:154535008 Clitoral Ca SNOMEDCT_2005_07_31:188213003 Clitoral Ca SNOMEDCT_2005_07_31:269604005 Clitoral Ca SNOMEDCT_2005_07_31:93758009 carcinoma of Clitoris NCI2004_11_17:C9362 malignant neoplasm of clitoris (disorder) SNOMEDCT_2005_07_31:371979001 malignant tumor of Clitoris NCI2004_11_17:C3557 Lymphangiectases (disorder) Lymphangiectasis (morphologic abnormality) disease_ontology DOID:2402 lymphangiectasis true Lymphangiectases (disorder) SNOMEDCT_2005_07_31:238801004 Lymphangiectasis (morphologic abnormality) SNOMEDCT_2005_07_31:48087001 A parasitic Ichthyosporea infectious disease that is a chronic granulomatous infection of the mucous membranes caused by the parasite Rhinosporidium seeberi, which manifests as vascular friable polyps that arise from the nasal mucosa or external structures of the eye. Disease of the skin, mouth, upper airways, ear, genitals, and rectum has also been observed. ICD10CM:B48.1 ICD9CM:117.0 MESH:D012227 SNOMEDCT_US_2016_03_01:18140003 UMLS_CUI:C0035469 Infection by Rhinosporidium seeberi Rhinosporidiosis (disorder) disease_ontology DOID:2409 rhinosporidiosis A parasitic Ichthyosporea infectious disease that is a chronic granulomatous infection of the mucous membranes caused by the parasite Rhinosporidium seeberi, which manifests as vascular friable polyps that arise from the nasal mucosa or external structures of the eye. Disease of the skin, mouth, upper airways, ear, genitals, and rectum has also been observed. url:http://emedicine.medscape.com/article/227734-overview Infection by Rhinosporidium seeberi MTHICD9_2006:117.0 Rhinosporidiosis (disorder) SNOMEDCT_2005_07_31:18140003 NCI:C5617 SNOMEDCT_US_2016_03_01:254763007 UMLS_CUI:C0346060 granular cell neoplasm of the skin granular cell tumor of skin (disorder) disease_ontology DOID:2410 skin granular cell tumor granular cell neoplasm of the skin NCI2004_11_17:C5617 granular cell tumor of skin (disorder) SNOMEDCT_2005_07_31:254763007 MESH:D016586 NCI:C3474 SNOMEDCT_US_2016_03_01:12169001 SNOMEDCT_US_2016_03_01:189954007 SNOMEDCT_US_2016_03_01:404035005 UMLS_CUI:C0085167 granular cell tumor (disorder) granular cell tumor (morphologic abnormality) granular cell tumor NOS (morphologic abnormality) neoplasm of granular cell disease_ontology DOID:2411 granular cell tumor granular cell tumor (disorder) SNOMEDCT_2005_07_31:404035005 granular cell tumor (morphologic abnormality) SNOMEDCT_2005_07_31:12169001 granular cell tumor NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189954007 neoplasm of granular cell NCI2004_11_17:C3474 neural tumor of the skin skin tumor of neural origin (disorder) disease_ontology DOID:2412 skin tumor of neural origin true neural tumor of the skin NCI2004_11_17:C4479 skin tumor of neural origin (disorder) SNOMEDCT_2005_07_31:254758008 Pigmented spindle cell naevus of Reed Spitz (spindle cell) nevus epithelioid and spindle cell nevus (disorder) disease_ontology DOID:2413 epithelioid and spindle cell nevus true Pigmented spindle cell naevus of Reed SNOMEDCT_2005_07_31:88082008 Spitz (spindle cell) nevus NCI2004_11_17:C27007 epithelioid and spindle cell nevus (disorder) SNOMEDCT_2005_07_31:254811006 DOID:191 DOID:2418 DOID:5901 Magnocellular nevus Magnocellular nevus (morphologic abnormality) Naevus - benign benign melanocytic naevus benign melanocytic naevus of skin benign melanocytic nevus benign melanoma benign nevus of skin cutaneous melanocytic neoplasm melanocytic neoplasm melanocytic neoplasm (disorder) melanocytic neoplasm of skin melanocytic tumor of skin (disorder) melanocytoma disease_ontology DOID:2415 benign skin melanocytic nevus true Magnocellular nevus NCI2004_11_17:C4230 Magnocellular nevus (morphologic abnormality) SNOMEDCT_2005_07_31:26325004 Naevus - benign SNOMEDCT_2005_07_31:154613008 Naevus - benign SNOMEDCT_2005_07_31:269639005 benign melanocytic naevus SNOMEDCT_2005_07_31:253037001 benign melanocytic naevus of skin SNOMEDCT_2005_07_31:189086004 benign melanocytic naevus of skin SNOMEDCT_2005_07_31:247457003 benign melanocytic naevus of skin SNOMEDCT_2005_07_31:254801004 benign melanocytic naevus of skin SNOMEDCT_2005_07_31:400010006 benign melanocytic nevus NCI2004_11_17:C7571 benign melanoma SNOMEDCT_2005_07_31:21119008 benign nevus of skin SNOMEDCT_2005_07_31:109265005 benign nevus of skin SNOMEDCT_2005_07_31:189051001 melanocytic neoplasm NCI2004_11_17:C7058 melanocytic neoplasm (disorder) SNOMEDCT_2005_07_31:399956005 melanocytic neoplasm of skin NCI2004_11_17:C7161 melanocytic tumor of skin (disorder) SNOMEDCT_2005_07_31:276728004 Melanotic nevus NEVI PIGMENTED Pigmented naevus Pigmented naevus NOS Pigmented nevus Pigmented nevus, no ICD-O subtype (morphologic abnormality) Sutton's naevus melanocytic naevi, unspecified melanocytic nevi, unspecified (disorder) melanocytic nevus (disorder) melanocytic nevus of skin (disorder) mole (skin) disease_ontology DOID:2417 melanocytic nevus true Melanotic nevus NCI2004_11_17:C7570 NEVI PIGMENTED MTH:NOCODE Pigmented naevus SNOMEDCT_2005_07_31:189051001 Pigmented naevus NOS SNOMEDCT_2005_07_31:276499003 Pigmented nevus NCI2004_11_17:C27816 Pigmented nevus, no ICD-O subtype (morphologic abnormality) SNOMEDCT_2005_07_31:21119008 Sutton's naevus SNOMEDCT_2005_07_31:307602007 Sutton's naevus SNOMEDCT_2005_07_31:398028009 melanocytic naevi, unspecified SNOMEDCT_2005_07_31:189096008 melanocytic nevi, unspecified (disorder) SNOMEDCT_2005_07_31:190213002 melanocytic nevus (disorder) SNOMEDCT_2005_07_31:109265005 melanocytic nevus (disorder) SNOMEDCT_2005_07_31:400096001 melanocytic nevus of skin (disorder) SNOMEDCT_2005_07_31:400010006 mole (skin) CSP2005:0727-0083 Cutaneous fibrous tissue neoplasm fibrous tissue tumor of skin (disorder) disease_ontology DOID:2421 skin fibrous tissue neoplasm true Cutaneous fibrous tissue neoplasm NCI2004_11_17:C4634 fibrous tissue tumor of skin (disorder) SNOMEDCT_2005_07_31:254736006 HALO NEVI HN Halo nevus (disorder) Halo nevus (morphologic abnormality) disease_ontology DOID:2423 OMIM mapping confirmed by DO. [SN]. halo nevus true HN NCI2004_11_17:C7602 Halo nevus (disorder) SNOMEDCT_2005_07_31:307602007 Halo nevus (disorder) SNOMEDCT_2005_07_31:398028009 Halo nevus (morphologic abnormality) SNOMEDCT_2005_07_31:78325005 Dermal cellular nevus (disorder) Dermal nevus Intradermal nevus (morphologic abnormality) disease_ontology DOID:2424 intradermal nevus true Dermal cellular nevus (disorder) SNOMEDCT_2005_07_31:302838006 Dermal nevus NCI2004_11_17:C3804 Intradermal nevus (morphologic abnormality) SNOMEDCT_2005_07_31:112681002 NCI:C4481 SNOMEDCT_US_2016_03_01:254766004 UMLS_CUI:C0346063 Cutaneous Ganglioneuroma Ganglioneuroma of skin (disorder) disease_ontology DOID:2425 cutaneous ganglioneuroma Cutaneous Ganglioneuroma NCI2004_11_17:C4481 Ganglioneuroma of skin (disorder) SNOMEDCT_2005_07_31:254766004 MESH:D005729 NCI:C3049 NCI:C6934 SNOMEDCT_US_2016_03_01:116371000119107 SNOMEDCT_US_2016_03_01:128919000 SNOMEDCT_US_2016_03_01:189929007 SNOMEDCT_US_2016_03_01:53801007 UMLS_CUI:C0017075 disease_ontology DOID:2426 gangliocytoma NCI:C4491 SNOMEDCT_US_2016_03_01:254795008 UMLS_CUI:C0346083 Glomus skin neoplasm Glomus tumor of skin (disorder) disease_ontology DOID:2430 skin glomus tumor Glomus skin neoplasm NCI2004_11_17:C4491 Glomus tumor of skin (disorder) SNOMEDCT_2005_07_31:254795008 A hemangiopericytic tumor that is a mesenchymal neoplasm composed of cells that closely resemble the modified smooth muscle cells of the normal glomus body. MESH:D005918 NCI:C3060 SNOMEDCT_US_2016_03_01:10438002 SNOMEDCT_US_2016_03_01:189193002 SNOMEDCT_US_2016_03_01:393567008 SNOMEDCT_US_2016_03_01:403969002 UMLS_CUI:C0017653 Glomus neoplasm Glomus tumour disease_ontology DOID:2431 glomus tumor A hemangiopericytic tumor that is a mesenchymal neoplasm composed of cells that closely resemble the modified smooth muscle cells of the normal glomus body. url:www.iarc.fr/en/publications/pdfs-online/pat-gen/bb5/bb5-chap5.pdf Glomus neoplasm NCI2004_11_17:C3060 Glomus tumour SNOMEDCT_2005_07_31:393567008 NCI:C4463 SNOMEDCT_US_2016_03_01:126489007 SNOMEDCT_US_2016_03_01:55681005 UMLS_CUI:C0345988 neoplasm of skin with adnexal differentiation (disorder) neoplasm of the skin Appendage skin appendage tumour disease_ontology DOID:2433 epidermal appendage tumor neoplasm of skin with adnexal differentiation (disorder) SNOMEDCT_2005_07_31:126489007 neoplasm of the skin Appendage NCI2004_11_17:C4463 skin appendage tumour SNOMEDCT_2005_07_31:55681005 Junctional melanocytic nevus of skin (disorder) Junctional nevus (morphologic abnormality) Junctional nevus of the skin disease_ontology DOID:2434 intraepidermal nevus true Junctional melanocytic nevus of skin (disorder) SNOMEDCT_2005_07_31:254802006 Junctional nevus (morphologic abnormality) SNOMEDCT_2005_07_31:30494009 Junctional nevus of the skin NCI2004_11_17:C4231 NCI:C6750 SNOMEDCT_US_2016_03_01:403970001 UMLS_CUI:C1275226 Cutaneous Glomangioma Glomangioma of skin (disorder) disease_ontology DOID:2435 skin glomangioma Cutaneous Glomangioma NCI2004_11_17:C6750 Glomangioma of skin (disorder) SNOMEDCT_2005_07_31:403970001 MESH:D005918 NCI:C4222 SNOMEDCT_US_2016_03_01:7429002 UMLS_CUI:C0334421 disease_ontology DOID:2436 glomangioma Compound nevus (morphologic abnormality) Compound nevus of skin (disorder) compound nevus disease_ontology DOID:2437 skin compound nevus true Compound nevus (morphologic abnormality) SNOMEDCT_2005_07_31:49409001 Compound nevus of skin (disorder) SNOMEDCT_2005_07_31:254805008 compound nevus NCI2004_11_17:C3901 NCI:C4475 SNOMEDCT_US_2016_03_01:254735005 UMLS_CUI:C0346041 neoplasm of Dermis tumor of dermis disease_ontology DOID:2438 dermis tumor neoplasm of Dermis NCI2004_11_17:C4475 tumor of dermis SNOMEDCT_2005_07_31:254735005 NCI:C6067 UMLS_CUI:C1333646 Epidermoid carcinoma of the Frontal sinus disease_ontology DOID:2441 frontal sinus squamous cell carcinoma Epidermoid carcinoma of the Frontal sinus NCI2004_11_17:C6067 MESH:D006964 SNOMEDCT_US_2016_03_01:10649000 SNOMEDCT_US_2016_03_01:154698000 SNOMEDCT_US_2016_03_01:267480001 UMLS_CUI:C0020506 disease_ontology DOID:2444 hyperpituitarism Anterior pituitary hyperfunction Pituitary gigantism disease_ontology DOID:2446 gigantism true Anterior pituitary hyperfunction SNOMEDCT_2005_07_31:154698000 Pituitary gigantism SNOMEDCT_2005_07_31:86073008 A disease of metabolism that has_material_basis_in excessive growth hormone production which results_in enlargement located_in limb. MESH:D000172 NCI:C84533 SNOMEDCT_US_2016_03_01:154698000 SNOMEDCT_US_2016_03_01:267480001 SNOMEDCT_US_2016_03_01:74107003 UMLS_CUI:C0001206 disease_ontology DOID:2449 acromegaly A disease of metabolism that has_material_basis_in excessive growth hormone production which results_in enlargement located_in limb. url:http://en.wikipedia.org/wiki/Acromegaly url:http://www.acromegaly.org/ url:http://www.mayoclinic.com/health/acromegaly/DS00478 url:http://www.nlm.nih.gov/medlineplus/ency/article/000321.htm url:http://www.umm.edu/endocrin/acromegaly.htm ICD10CM:H34.81 ICD9CM:362.35 NCI:C118859 SNOMEDCT_US_2016_03_01:193378003 SNOMEDCT_US_2016_03_01:68478007 UMLS_CUI:C0154841 central retinal vein occlusion (disorder) disease_ontology DOID:2450 central retinal vein occlusion central retinal vein occlusion (disorder) SNOMEDCT_2005_07_31:68478007 ICD10CM:D68.59 MESH:D018455 NCI:C99026 SNOMEDCT_US_2016_03_01:1563006 UMLS_CUI:C0242666 Protein S deficiency Protein S deficiency disease (disorder) disease_ontology DOID:2451 protein S deficiency Protein S deficiency MTHICD9_2006:289.81 Protein S deficiency disease (disorder) SNOMEDCT_2005_07_31:1563006 ICD10CM:D68.59 MESH:D019851 NCI:C84479 OMIM:188050 OMIM:614486 SNOMEDCT_US_2016_03_01:191302007 SNOMEDCT_US_2016_03_01:234467004 SNOMEDCT_US_2016_03_01:76612001 UMLS_CUI:C0398623 hypercoagulability state disease_ontology DOID:2452 OMIM mapping confirmed by DO. [LS]. thrombophilia hypercoagulability state SNOMEDCT_2005_07_31:76612001 A blepharoconjunctivitis that is characterized by fissuring, scaling, maceration and erythema of the lateral or medial canthal area. ICD10CM:H10.52 ICD9CM:372.21 SNOMEDCT_US_2016_03_01:193871000 SNOMEDCT_US_2016_03_01:69397000 UMLS_CUI:C0155149 disease_ontology DOID:2455 angular blepharoconjunctivitis A blepharoconjunctivitis that is characterized by fissuring, scaling, maceration and erythema of the lateral or medial canthal area. url:http://dro.hs.columbia.edu/angbleph.htm A blepharitis that is characterized by the dual combination of conjunctivitis with blepharitis. ICD10CM:H10.5 ICD10CM:H10.50 ICD9CM:372.2 ICD9CM:372.20 NCI:C34430 SNOMEDCT_US_2016_03_01:155164001 SNOMEDCT_US_2016_03_01:193870004 SNOMEDCT_US_2016_03_01:193873002 SNOMEDCT_US_2016_03_01:68659002 UMLS_CUI:C0005743 disease_ontology DOID:2456 blepharoconjunctivitis A blepharitis that is characterized by the dual combination of conjunctivitis with blepharitis. url:http://en.wikipedia.org/wiki/Conjunctivitis MESH:D003233 NCI:C34507 SNOMEDCT_US_2016_03_01:231857004 UMLS_CUI:C0009769 disease_ontology DOID:2457 giant papillary conjunctivitis NCI:C35616 SNOMEDCT_US_2016_03_01:416878008 UMLS_CUI:C0854165 disease_ontology DOID:2458 papillary conjunctivitis ICD10CM:H27.12 ICD9CM:379.33 SNOMEDCT_US_2016_03_01:194160006 SNOMEDCT_US_2016_03_01:37283009 UMLS_CUI:C0155372 disease_ontology DOID:2460 anterior dislocation of lens NCI:C35170 SNOMEDCT_US_2016_03_01:57534004 UMLS_CUI:C0154833 retina circulation disorder disease_ontology DOID:2462 retinal vascular disease retina circulation disorder CSP2005:1114-7471 Psychogenic confusion Psychogenic twilight state disease_ontology DOID:2467 reactive confusion true Psychogenic confusion SNOMEDCT_2005_07_31:280943007 Psychogenic twilight state MTHICD9_2006:298.2 A cognitive disorder that involves abnormal thinking and perceptions resulting in a disconnection with reality. EFO:0000677 ICD9CM:298.8 UMLS_CUI:C0029516 mental or behavioural disorder disease_ontology DOID:2468 psychotic disorder A cognitive disorder that involves abnormal thinking and perceptions resulting in a disconnection with reality. url:http://www.nlm.nih.gov/medlineplus/psychoticdisorders.html Erysipelas in swine disease_ontology DOID:2469 swine erysipelas true Erysipelas in swine SNOMEDCT_2005_07_31:37122007 Erysipeloid (disorder) Erysipelothrix disease (disorder) Seal finger (disorder) disease_ontology DOID:2470 Erysipelothrix infectious disease true Erysipeloid (disorder) SNOMEDCT_2005_07_31:186322009 Erysipelothrix disease (disorder) SNOMEDCT_2005_07_31:367434002 Seal finger (disorder) SNOMEDCT_2005_07_31:238455005 Infection due to E. rhusiopathiae Infection due to Erysipelothrix rhusiopathiae disease_ontology DOID:2471 Erysipelothrix rhusiopathiae infectious disease true Infection due to E. rhusiopathiae MTHICD9_2006:027.1 Infection due to Erysipelothrix rhusiopathiae SNOMEDCT_2005_07_31:266005008 A systemic mycosis that results_in fungal infection located_in human body of immunocompromised individuals, has_material_basis_in Fungi. The organisms invade via the respiratory tract, alimentary tract, or intravascular devices. DOID:0050137 ICD9CM:118 SNOMEDCT_US_2016_03_01:187108005 SNOMEDCT_US_2016_03_01:78999002 UMLS_CUI:C0029119 Opportunistic mycoses (disorder) Opportunistic mycosis (disorder) opportunistic systemic mycoses disease_ontology DOID:2473 opportunistic mycosis A systemic mycosis that results_in fungal infection located_in human body of immunocompromised individuals, has_material_basis_in Fungi. The organisms invade via the respiratory tract, alimentary tract, or intravascular devices. url:http://www.mycology.adelaide.edu.au/Mycoses/ url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4006 Opportunistic mycoses (disorder) SNOMEDCT_2005_07_31:187108005 Opportunistic mycosis (disorder) SNOMEDCT_2005_07_31:78999002 ICD10CM:H10.44 ICD9CM:372.13 MESH:D003233 NCI:C34508 SNOMEDCT_US_2016_03_01:193774003 SNOMEDCT_US_2016_03_01:193867003 SNOMEDCT_US_2016_03_01:20212001 SNOMEDCT_US_2016_03_01:318316003 UMLS_CUI:C0009773 disease_ontology DOID:2474 vernal conjunctivitis ICD10CM:H10.4 ICD10CM:H10.40 ICD9CM:372.1 ICD9CM:372.10 NCI:C35197 SNOMEDCT_US_2016_03_01:155163007 SNOMEDCT_US_2016_03_01:193865006 SNOMEDCT_US_2016_03_01:193869000 SNOMEDCT_US_2016_03_01:73762008 UMLS_CUI:C0155145 Unspecified chronic conjunctivitis (disorder) chronic Conjunctivitis chronic conjunctivitis NOS (disorder) chronic conjunctivitis, unspecified disease_ontology DOID:2475 chronic conjunctivitis Unspecified chronic conjunctivitis (disorder) SNOMEDCT_2005_07_31:193865006 chronic Conjunctivitis NCI2004_11_17:C35197 chronic conjunctivitis NOS (disorder) SNOMEDCT_2005_07_31:193869000 chronic conjunctivitis, unspecified ICD9CM_2006:372.10 A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs. ICD10CM:G11.4 ICD9CM:334.1 OMIM:PS303350 SNOMEDCT_US_2016_03_01:155013000 SNOMEDCT_US_2016_03_01:267692008 SNOMEDCT_US_2016_03_01:39912006 SNOMEDCT_US_2016_03_01:76043009 UMLS_CUI:C0037773 French settlement disease Strumpell-Lorrain disease familial spastic paraplegia hereditary spastic paraparesis disease_ontology DOID:2476 Xref MGI. hereditary spastic paraplegia A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs. url:http://en.wikipedia.org/wiki/Familial_spastic_paraplegia ICD10CM:G60.0 MESH:D015417 NCI:C75467 SNOMEDCT_US_2016_03_01:128202008 SNOMEDCT_US_2016_03_01:155081008 SNOMEDCT_US_2016_03_01:193158000 SNOMEDCT_US_2016_03_01:193160003 SNOMEDCT_US_2016_03_01:193161004 SNOMEDCT_US_2016_03_01:398100001 UMLS_CUI:C0027888 HSMN HSMN - Hereditary sensory and motor neuropathy Hereditary motor and sensory neuropathy neuropathic muscular atrophy disease_ontology DOID:2477 motor peripheral neuropathy HSMN SNOMEDCT_2005_07_31:398100001 HSMN - Hereditary sensory and motor neuropathy SNOMEDCT_2005_07_31:193158000 Hereditary motor and sensory neuropathy SNOMEDCT_2005_07_31:193160003 neuropathic muscular atrophy CSP2005:2042-7637 ICD10CM:H81.4 ICD10CM:H81.49 ICD9CM:386.2 MESH:D014717 SNOMEDCT_US_2016_03_01:194362009 SNOMEDCT_US_2016_03_01:20425006 SNOMEDCT_US_2016_03_01:38403006 UMLS_CUI:C0155503 Vertigo of central origin central vestibular vertigo disease_ontology DOID:2479 central nervous system origin vertigo Vertigo of central origin ICD9CM_2006:386.2 central vestibular vertigo SNOMEDCT_2005_07_31:20425006 DOID:246 MESH:D014134 NCI:C3419 NCI:C6049 SNOMEDCT_US_2016_03_01:126703006 UMLS_CUI:C0040582 UMLS_CUI:C1336772 Tracheal tumor leiomyoma of the Trachea neoplasm of trachea (disorder) trachea neoplasm tracheal neoplasm disease_ontology DOID:248 trachea leiomyoma Tracheal tumor NCI2004_11_17:C3419 leiomyoma of the Trachea NCI2004_11_17:C6049 neoplasm of trachea (disorder) SNOMEDCT_2005_07_31:126703006 trachea neoplasm CSP2005:2017-6768 ICD10CM:G40.82 ICD9CM:345.6 MESH:D013036 NCI:C84788 OMIM:300607 OMIM:607208 OMIM:609304 OMIM:612164 OMIM:613402 OMIM:613477 OMIM:613720 OMIM:613721 OMIM:613722 SNOMEDCT_US_2016_03_01:155042008 SNOMEDCT_US_2016_03_01:193014002 SNOMEDCT_US_2016_03_01:193015001 SNOMEDCT_US_2016_03_01:193016000 SNOMEDCT_US_2016_03_01:28055006 SNOMEDCT_US_2016_03_01:288197007 UMLS_CUI:C0037769 infantile spasm disease_ontology DOID:2481 OMIM mapping confirmed by DO. [SN]. infantile epileptic encephalopathy ICD9CM:275.3 MESH:D010760 NCI:C97095 SNOMEDCT_US_2016_03_01:154752005 SNOMEDCT_US_2016_03_01:190858002 SNOMEDCT_US_2016_03_01:190862008 SNOMEDCT_US_2016_03_01:267505006 SNOMEDCT_US_2016_03_01:87049008 UMLS_CUI:C0031707 Phosphorus disorder disorder of phosphorus metabolism disorder of phosphorus metabolism (disorder) disorder of phosphorus metabolism NOS (disorder) phosphorus metabolism disorder disease_ontology DOID:2485 phosphorus metabolism disease Phosphorus disorder SNOMEDCT_2005_07_31:154752005 Phosphorus disorder SNOMEDCT_2005_07_31:267505006 disorder of phosphorus metabolism ICD9CM_2006:275.3 disorder of phosphorus metabolism (disorder) SNOMEDCT_2005_07_31:190858002 disorder of phosphorus metabolism (disorder) SNOMEDCT_2005_07_31:87049008 disorder of phosphorus metabolism NOS (disorder) SNOMEDCT_2005_07_31:190862008 phosphorus metabolism disorder CSP2005:0531-8952 hypercholesteremia disease_ontology hypercholesterolaemia DOID:2487 hypercholesterolemia true hypercholesteremia CSP2005:1744-1643 hypercholesterolaemia SNOMEDCT_2005_07_31:154740003 ICD9CM:742 SNOMEDCT_US_2016_03_01:204018008 UMLS_CUI:C0158538 congenital neurologic anomaly disease_ontology DOID:2490 congenital nervous system abnormality A neuropathy that involves damage to nerves of the peripheral nervous system. DOID:10596 ICD9CM:356.2 MESH:D009477 NCI:C3501 SNOMEDCT_US_2016_03_01:11442006 SNOMEDCT_US_2016_03_01:193163001 SNOMEDCT_US_2016_03_01:95662005 UMLS_CUI:C0151313 UMLS_CUI:C0699739 Sensory neuropathy (disorder) peripheral Sensory Neuropathy sensory neuropathy disease_ontology DOID:2491 sensory peripheral neuropathy A neuropathy that involves damage to nerves of the peripheral nervous system. ls:IEDB Sensory neuropathy (disorder) SNOMEDCT_2005_07_31:95662005 peripheral Sensory Neuropathy NCI2004_11_17:C3501 sensory neuropathy CSP2005:4007-0113 Hereditary peripheral neuropathy (disorder) Hereditary peripheral neuropathy NOS (disorder) disease_ontology DOID:2492 hereditary peripheral neuropathy true Hereditary peripheral neuropathy (disorder) SNOMEDCT_2005_07_31:65017003 Hereditary peripheral neuropathy NOS (disorder) SNOMEDCT_2005_07_31:193159008 MESH:D020252 NCI:C84724 SNOMEDCT_US_2016_03_01:412795008 SNOMEDCT_US_2016_03_01:43935004 UMLS_CUI:C0267211 Watermelon stomach (disorder) gastric antral vascular ectasia (disorder) disease_ontology DOID:2493 gastric antral vascular ectasia Watermelon stomach (disorder) SNOMEDCT_2005_07_31:43935004 gastric antral vascular ectasia (disorder) SNOMEDCT_2005_07_31:412795008 A vascular disease that is characterized as a small vascular malformation of the gut. DOID:12071 ICD9CM:537.83 MESH:D016888 SNOMEDCT_US_2016_03_01:71072006 UMLS_CUI:C0085411 UMLS_CUI:C0156091 angiodysplasia of stomach and duodenum with hemorrhage disease_ontology DOID:2494 angiodysplasia A vascular disease that is characterized as a small vascular malformation of the gut. url:http://en.wikipedia.org/wiki/Angiodysplasia NCI:C4390 SNOMEDCT_US_2016_03_01:11790000 SNOMEDCT_US_2016_03_01:5050001 UMLS_CUI:C0343082 Senile hemangioma Senile naevus of skin disease_ontology DOID:2495 senile angioma Senile hemangioma NCI2004_11_17:C4390 Senile naevus of skin SNOMEDCT_2005_07_31:11790000 ICD9CM:521.31 UMLS_CUI:C1456161 disease_ontology DOID:2497 enamel erosion DOID:11509 DOID:12687 ICD10CM:K03.2 ICD9CM:521.3 ICD9CM:521.34 ICD9CM:521.35 MESH:D014077 SNOMEDCT_US_2016_03_01:155634008 SNOMEDCT_US_2016_03_01:196315004 SNOMEDCT_US_2016_03_01:266486000 SNOMEDCT_US_2016_03_01:82212003 UMLS_CUI:C0040436 UMLS_CUI:C1456164 UMLS_CUI:C1456165 generalized erosion localized erosion disease_ontology DOID:2498 tooth erosion chronic Encephalopathy chronic brain damage chronic brain syndrome (disorder) disease_ontology DOID:250 chronic brain damage true chronic Encephalopathy NCI2004_11_17:C34435 chronic brain damage CSP2005:0482-0937 chronic brain syndrome (disorder) SNOMEDCT_2005_07_31:78689005 A vulvovaginal candidiasis that involves fungal infection of the vaginal mucous membranes by Candida albicans in AIDS patients. disease_ontology DOID:2503 AIDS-related vulvovaginal candidiasis true A vulvovaginal candidiasis that involves fungal infection of the vaginal mucous membranes by Candida albicans in AIDS patients. url:http://en.wikipedia.org/wiki/Vulvovaginal_candidiasis A syndrome that involves inflammation of the aorta that carries blood from the heart to the rest of the body. DOID:13377 ICD10CM:M31.4 ICD9CM:446.7 MESH:D001015 MESH:D013625 NCI:C34391 NCI:C35062 OMIM:207600 SNOMEDCT_US_2016_03_01:155445002 SNOMEDCT_US_2016_03_01:195361009 SNOMEDCT_US_2016_03_01:266323005 SNOMEDCT_US_2016_03_01:359789008 SNOMEDCT_US_2016_03_01:42153001 UMLS_CUI:C0003490 UMLS_CUI:C0039263 (Aortic arch arteritis) or (Takayasu's disease[& pulseless]) Aortic Arch syndrome Aortic arch arteritis Aortic arch syndrome Idiopathic aortitis (disorder) Takayasu arteritis Takayasu's disease disease_ontology DOID:2508 OMIM mapping confirmed by DO. [SN]. Takayasu's arteritis A syndrome that involves inflammation of the aorta that carries blood from the heart to the rest of the body. url:http://www.nlm.nih.gov/medlineplus/ency/article/001250.htm (Aortic arch arteritis) or (Takayasu's disease[& pulseless]) SNOMEDCT_2005_07_31:195361009 Aortic Arch syndrome NCI2004_11_17:C34391 Aortic arch arteritis MTHICD9_2006:446.7 Aortic arch syndrome SNOMEDCT_2005_07_31:359789008 Idiopathic aortitis (disorder) SNOMEDCT_2005_07_31:239937004 Takayasu's disease ICD9CM_2006:446.7 SNOMEDCT_2005_07_31:155445002 SNOMEDCT_2005_07_31:266323005 ICD9CM:291.8 ICD9CM:291.89 UMLS_CUI:C1456283 disease_ontology DOID:251 alcohol-induced mental disorder An impulse control disorder that involves abnormalities in memory, social and sexual functioning and idiosyncratic behaviors resulting from damage from trauma or infection to both temporal lobes causing individuals to put objects in their mouths and engage in inappropriate sexual behavior. MESH:D020232 NCI:C84802 SNOMEDCT_US_2016_03_01:10651001 UMLS_CUI:C0270707 Klver-Bucy syndrome disease_ontology DOID:2510 Kluver-Bucy syndrome An impulse control disorder that involves abnormalities in memory, social and sexual functioning and idiosyncratic behaviors resulting from damage from trauma or infection to both temporal lobes causing individuals to put objects in their mouths and engage in inappropriate sexual behavior. url:http://en.wikipedia.org/wiki/Kl%C3%BCver%E2%80%93Bucy_syndrome url:http://www.ninds.nih.gov/disorders/kluver_bucy/kluver_bucy.htm Klver-Bucy syndrome SNOMEDCT_2005_07_31:10651001 MESH:D001478 NCI:C2892 OMIM:109400 SNOMEDCT_US_2016_03_01:188145001 SNOMEDCT_US_2016_03_01:254704004 SNOMEDCT_US_2016_03_01:69408002 UMLS_CUI:C0004779 Gorlin syndrome basal cell nevus syndrome disease_ontology DOID:2512 OMIM mapping confirmed by DO. [SN]. nevoid basal cell carcinoma syndrome Gorlin syndrome SNOMEDCT_2005_07_31:69408002 A skin carcinoma affecting basal cells. DOID:4275 DOID:4276 CSP:2000-2719 EFO:0004193 HP:0002671 KEGG:05217 MESH:D002280 MESH:D018295 NCI:C2921 NCI:C3784 NCI:C7586 OMIM:605462 OMIM:613058 OMIM:613059 OMIM:613061 OMIM:613062 OMIM:613063 OMIM:614740 SNOMEDCT_US_2016_03_01:127570002 SNOMEDCT_US_2016_03_01:1338007 SNOMEDCT_US_2016_03_01:154507009 SNOMEDCT_US_2016_03_01:188083002 SNOMEDCT_US_2016_03_01:189572008 SNOMEDCT_US_2016_03_01:189573003 SNOMEDCT_US_2016_03_01:189574009 SNOMEDCT_US_2016_03_01:252995000 SNOMEDCT_US_2016_03_01:254701007 SNOMEDCT_US_2016_03_01:269582000 SNOMEDCT_US_2016_03_01:275265005 SNOMEDCT_US_2016_03_01:30649006 SNOMEDCT_US_2016_03_01:399049001 UMLS_CUI:C0007117 UMLS_CUI:C0206710 UMLS_CUI:C1368295 BASAL CELL carcinoma OF SKIN Basal cell cancer Basal cell carcinoma NOS (morphologic abnormality) Basal cell carcinoma of skin (disorder) Basal cell neoplasm (morphologic abnormality) Basal cell neoplasm NOS (morphologic abnormality) Basal cell tumor Basal cell tumor (morphologic abnormality) Epithelioma basal cell (disorder) Rodent ulcer malignant Basal cell neoplasm malignant basal cell tumor malignant basal cell tumor (morphologic abnormality) disease_ontology DOID:2513 Xref MGI. basal cell carcinoma A skin carcinoma affecting basal cells. url:http://en.wikipedia.org/wiki/Basal-cell_carcinoma BASAL CELL carcinoma OF SKIN MTH:100 Basal cell cancer NCI2004_11_17:C2921 Basal cell carcinoma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189573003 Basal cell carcinoma of skin (disorder) SNOMEDCT_2005_07_31:254701007 Basal cell neoplasm (morphologic abnormality) SNOMEDCT_2005_07_31:189572008 Basal cell neoplasm NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189574009 Basal cell tumor NCI2004_11_17:C3784 Basal cell tumor (morphologic abnormality) SNOMEDCT_2005_07_31:30649006 Epithelioma basal cell (disorder) SNOMEDCT_2005_07_31:275265005 Rodent ulcer SNOMEDCT_2005_07_31:154507009 Rodent ulcer SNOMEDCT_2005_07_31:188083002 Rodent ulcer SNOMEDCT_2005_07_31:269582000 Rodent ulcer SNOMEDCT_2005_07_31:399049001 malignant Basal cell neoplasm NCI2004_11_17:C7586 malignant basal cell tumor (morphologic abnormality) SNOMEDCT_2005_07_31:252995000 Meningococcal optic neuritis (disorder) disease_ontology DOID:2514 meningococcal optic neuritis true Meningococcal optic neuritis (disorder) SNOMEDCT_2005_07_31:73431005 disease_ontology DOID:2515 meningococcal infectious disease true NCI:C5432 SNOMEDCT_US_2016_03_01:445513004 UMLS_CUI:C1334237 intracranial Cavernoma disease_ontology DOID:2516 intracranial cavernous angioma intracranial Cavernoma NCI2004_11_17:C5432 ICD10CM:D18.02 ICD9CM:228.02 NCI:C3633 SNOMEDCT_US_2016_03_01:189196005 SNOMEDCT_US_2016_03_01:93468003 UMLS_CUI:C0154050 Angioma of intracranial Structure hemangioma of intracranial structure (disorder) hemangioma of intracranial structures hemangioma of intracranial structures (disorder) disease_ontology DOID:2517 intracranial structure hemangioma Angioma of intracranial Structure NCI2004_11_17:C3633 hemangioma of intracranial structure (disorder) SNOMEDCT_2005_07_31:93468003 hemangioma of intracranial structures ICD9CM_2006:228.02 hemangioma of intracranial structures (disorder) SNOMEDCT_2005_07_31:189196005 ICD10CM:N45.2 MESH:D009920 NCI:C97145 SNOMEDCT_US_2016_03_01:197984006 SNOMEDCT_US_2016_03_01:197987004 SNOMEDCT_US_2016_03_01:197990005 SNOMEDCT_US_2016_03_01:274718005 SNOMEDCT_US_2016_03_01:29077001 SNOMEDCT_US_2016_03_01:297229006 SNOMEDCT_US_2016_03_01:367112009 UMLS_CUI:C0029191 Inflammation of testis Orchititis disease_ontology DOID:2518 orchitis Inflammation of testis SNOMEDCT_2005_07_31:297229006 Orchititis SNOMEDCT_2005_07_31:274718005 MESH:D013733 NCI:C26890 SNOMEDCT_US_2016_03_01:236763001 SNOMEDCT_US_2016_03_01:297228003 SNOMEDCT_US_2016_03_01:64910008 UMLS_CUI:C0039584 disorder of testis testis disorder disease_ontology DOID:2519 testicular disease disorder of testis SNOMEDCT_2005_07_31:297228003 testis disorder CSP2005:2587-6706 ICD9CM:291.9 MESH:D011604 SNOMEDCT_US_2016_03_01:154852003 SNOMEDCT_US_2016_03_01:191482008 SNOMEDCT_US_2016_03_01:192212000 SNOMEDCT_US_2016_03_01:268684002 SNOMEDCT_US_2016_03_01:42344001 UMLS_CUI:C0033936 Alcoholic psychoses disease_ontology DOID:252 alcoholic psychosis Alcoholic psychoses SNOMEDCT_2005_07_31:154852003 DOID:2523 DOID:2813 DOID:2865 abnormal glucose tolerance of mother with delivery antepartum abnormal glucose tolerance of mother postpartum abnormal glucose tolerance of mother disease_ontology DOID:2524 abnormal glucose tolerance in mother complicating pregnancy childbirth and/or puerperium true A prostate carcinoma that derives_from epithelial cells of glandular origin. NCI:C2919 SNOMEDCT_US_2016_03_01:399490008 UMLS_CUI:C0007112 disease_ontology DOID:2526 prostate adenocarcinoma A prostate carcinoma that derives_from epithelial cells of glandular origin. url:http://cancergenome.nih.gov/cancersselected/prostatecancer url:http://en.wikipedia.org/wiki/Adenocarcinoma url:http://en.wikipedia.org/wiki/Prostate_cancer MESH:D009401 SNOMEDCT_US_2016_03_01:90708001 UMLS_CUI:C0027720 disease_ontology DOID:2527 nephrosis A myeloma and spenic disease that is located_in the bone marrow that results_in the marrow being replaced by fibrous (scar) tissue and has_symptom abdominal fullness related to an enlarged spleen, has_symptom bone pain, has_symptom bruising, has_symptom easy bleeding, has_symptom fatigue, has_symptom increased susceptibility to infection, has_symptom pallor, has_symtom shortness of breath while doing physical work. Myeloid metaplasia (morphologic abnormality) disease_ontology DOID:2528 myeloid metaplasia true A myeloma and spenic disease that is located_in the bone marrow that results_in the marrow being replaced by fibrous (scar) tissue and has_symptom abdominal fullness related to an enlarged spleen, has_symptom bone pain, has_symptom bruising, has_symptom easy bleeding, has_symptom fatigue, has_symptom increased susceptibility to infection, has_symptom pallor, has_symtom shortness of breath while doing physical work. url:https://health.google.com/health/ref/Primary+myelofibrosis Myeloid metaplasia (morphologic abnormality) SNOMEDCT_2005_07_31:82513007 DOID:0000815 ICD10CM:D73 ICD10CM:D73.9 ICD9CM:289.50 MESH:D013158 NCI:C35823 SNOMEDCT_US_2016_03_01:154839008 SNOMEDCT_US_2016_03_01:191381002 SNOMEDCT_US_2016_03_01:191385006 SNOMEDCT_US_2016_03_01:267570002 SNOMEDCT_US_2016_03_01:51244008 SNOMEDCT_US_2016_03_01:58381000 UMLS_CUI:C0037997 Dyssplenism Spleen disease disease_ontology DOID:2529 splenic disease Dyssplenism SNOMEDCT_2005_07_31:58381000 Spleen disease SNOMEDCT_2005_07_31:267570002 ICD10CM:D73.3 NCI:C35347 SNOMEDCT_US_2016_03_01:82053000 UMLS_CUI:C0272412 disease_ontology DOID:2530 splenic abscess An immune system cancer located_in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes. DOID:1034 DOID:2532 MESH:D019337 NCI:C27134 SNOMEDCT_US_2016_03_01:414388001 SNOMEDCT_US_2016_03_01:414644002 UMLS_CUI:C0376544 Hematologic malignancy Hematologic malignancy (disorder) Hematologic neoplasm (disorder) Hematological tumors blood cancer hematopoietic and lymphoid system tumor hematopoietic cancer hematopoietic neoplasm (morphologic abnormality) hematopoietic tumors malignant hematopoietic neoplasm (morphologic abnormality) disease_ontology DOID:2531 hematologic cancer An immune system cancer located_in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes. url:http://en.wikipedia.org/wiki/Blood_cancer url:http://www.cancer.gov/dictionary/?CdrID=45708 Hematologic malignancy SNOMEDCT_2005_07_31:269475001 Hematologic malignancy (disorder) SNOMEDCT_2005_07_31:127221002 Hematologic neoplasm (disorder) SNOMEDCT_2005_07_31:129154003 Hematological tumors NCI2004_11_17:C27134 blood cancer CSP2005:2004-0139 hematopoietic neoplasm (morphologic abnormality) SNOMEDCT_2005_07_31:414388001 hematopoietic tumors NCI2004_11_17:C27134 malignant hematopoietic neoplasm (morphologic abnormality) SNOMEDCT_2005_07_31:414644002 ICD10CM:D73.5 MESH:D013159 SNOMEDCT_US_2016_03_01:154839008 SNOMEDCT_US_2016_03_01:22996003 SNOMEDCT_US_2016_03_01:267570002 UMLS_CUI:C0037998 Splenic infarct Splenic infarction Splenic infarction (disorder) disease_ontology DOID:2533 splenic infarction Splenic infarct SNOMEDCT_2005_07_31:154839008 Splenic infarct SNOMEDCT_2005_07_31:267570002 Splenic infarction MTHICD9_2006:289.59 Splenic infarction (disorder) SNOMEDCT_2005_07_31:22996003 ICD10CM:G61.81 ICD9CM:357.81 MESH:D020277 NCI:C84636 SNOMEDCT_US_2016_03_01:128209004 SNOMEDCT_US_2016_03_01:444728005 UMLS_CUI:C0393819 disease_ontology DOID:2536 chronic inflammatory demyelinating polyneuritis ICD9CM:357 ICD9CM:357.9 SNOMEDCT_US_2016_03_01:155060008 SNOMEDCT_US_2016_03_01:193172009 SNOMEDCT_US_2016_03_01:193204000 SNOMEDCT_US_2016_03_01:267601009 SNOMEDCT_US_2016_03_01:267603007 UMLS_CUI:C0154758 disease_ontology DOID:2537 inflammatory and toxic neuropathy ICD10CM:G40.8 MESH:D018887 NCI:C84806 OMIM:245570 SNOMEDCT_US_2016_03_01:192567003 SNOMEDCT_US_2016_03_01:230438007 UMLS_CUI:C0282512 acquired epileptic aphasia disease_ontology DOID:2538 OMIM mapping confirmed by DO. [SN]. Landau-Kleffner syndrome acquired epileptic aphasia SNOMEDCT_2005_07_31:192567003 ICD10CM:D18.03 ICD9CM:228.04 NCI:C3635 SNOMEDCT_US_2016_03_01:189197001 SNOMEDCT_US_2016_03_01:93467008 UMLS_CUI:C0154052 hemangioma of intra-abdominal structure (disorder) hemangioma of intra-abdominal structures hemangioma of intra-abdominal structures (disorder) hemangioma, Intra-abdominal disease_ontology DOID:254 hemangioma of intra-abdominal structure hemangioma of intra-abdominal structure (disorder) SNOMEDCT_2005_07_31:93467008 hemangioma of intra-abdominal structures ICD9CM_2006:228.04 hemangioma of intra-abdominal structures (disorder) SNOMEDCT_2005_07_31:189197001 hemangioma, Intra-abdominal NCI2004_11_17:C3635 An epilepsy syndrome that is located_in an area of the brain other than the temporal lobe. NCI:C7760 SNOMEDCT_US_2016_03_01:111498005 UMLS_CUI:C0270849 Extratemporal epilepsy Extratemporal epilepsy (disorder) disease_ontology DOID:2544 extratemporal epilepsy An epilepsy syndrome that is located_in an area of the brain other than the temporal lobe. url:http://www.webmd.com/epilepsy/extratemporal-cortical-resection Extratemporal epilepsy NCI2004_11_17:C7760 Extratemporal epilepsy (disorder) SNOMEDCT_2005_07_31:111498005 disease_ontology DOID:2545 congenital epilepsy true Atonic epilepsy Epileptic seizures - atonic (finding) disease_ontology DOID:2546 atonic epilepsy true Atonic epilepsy NCI2004_11_17:C3485 Epileptic seizures - atonic (finding) SNOMEDCT_2005_07_31:192981006 disease_ontology DOID:2547 intractable epilepsy true MESH:D020195 NCI:C85041 SNOMEDCT_US_2016_03_01:79745005 UMLS_CUI:C0270857 epilepsy, sensory-induced disease_ontology DOID:2548 reflex epilepsy epilepsy, sensory-induced MTHICD9_2006:345.5 disease_ontology DOID:2549 aggravated epilepsy true A cell type benign neoplasm that has_physical_basis_in endothelial cells that line blood vessels and is characterised by increased number of normal or abnormal vessels filled with blood. ICD10CM:D18.0 ICD10CM:D18.00 ICD9CM:228.0 ICD9CM:228.00 MESH:D006391 NCI:C3085 SNOMEDCT_US_2016_03_01:154625006 SNOMEDCT_US_2016_03_01:189192007 SNOMEDCT_US_2016_03_01:189193002 SNOMEDCT_US_2016_03_01:189194008 SNOMEDCT_US_2016_03_01:189199003 SNOMEDCT_US_2016_03_01:189863005 SNOMEDCT_US_2016_03_01:2099007 SNOMEDCT_US_2016_03_01:253053003 SNOMEDCT_US_2016_03_01:254822005 SNOMEDCT_US_2016_03_01:269646001 SNOMEDCT_US_2016_03_01:367337005 SNOMEDCT_US_2016_03_01:400210000 SNOMEDCT_US_2016_03_01:93474003 UMLS_CUI:C0018916 disease_ontology DOID:255 hemangioma A cell type benign neoplasm that has_physical_basis_in endothelial cells that line blood vessels and is characterised by increased number of normal or abnormal vessels filled with blood. url:http://en.wikipedia.org/wiki/Hemangioma NCI:C4687 SNOMEDCT_US_2016_03_01:230449001 UMLS_CUI:C0393724 Tactile epilepsy (disorder) disease_ontology DOID:2550 tactile epilepsy Tactile epilepsy (disorder) SNOMEDCT_2005_07_31:230449001 disease_ontology DOID:2551 anosognostic epilepsy true MESH:D020293 NCI:C34653 UMLS_CUI:C0018202 disease_ontology DOID:2555 granulomatous angiitis ICD10CM:M94.1 MESH:D011081 SNOMEDCT_US_2016_03_01:111256009 SNOMEDCT_US_2016_03_01:72275000 SNOMEDCT_US_2016_03_01:85780006 UMLS_CUI:C0032453 Chondromalacia, systemic disease_ontology DOID:2556 relapsing polychondritis Chondromalacia, systemic MTHICD9_2006:733.92 ICD10CM:M94.2 ICD10CM:M94.20 ICD9CM:733.92 MESH:D002357 SNOMEDCT_US_2016_03_01:203512007 SNOMEDCT_US_2016_03_01:63198006 UMLS_CUI:C0085700 disease_ontology DOID:2557 chondromalacia A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance. ICD10CM:F11.2 ICD9CM:304.0 ICD9CM:304.00 MESH:D009293 SNOMEDCT_US_2016_03_01:191817000 SNOMEDCT_US_2016_03_01:191818005 SNOMEDCT_US_2016_03_01:192220003 SNOMEDCT_US_2016_03_01:75544000 UMLS_CUI:C0524662 Opioid type dependence disease_ontology DOID:2559 opiate dependence A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance. url:http://en.wikipedia.org/wiki/Opiate_dependency Opioid type dependence ICD9CM_2006:304.0 NCI:C8541 SNOMEDCT_US_2016_03_01:93472004 UMLS_CUI:C0685201 Splenic hemangioma hemangioma of spleen (disorder) disease_ontology DOID:256 hemangioma of spleen Splenic hemangioma NCI2004_11_17:C8541 hemangioma of spleen (disorder) SNOMEDCT_2005_07_31:93472004 An opiate dependence that involves the continued use of morphine despite despite problems related to use of the substance. MESH:D009021 SNOMEDCT_US_2016_03_01:191817000 SNOMEDCT_US_2016_03_01:231479000 SNOMEDCT_US_2016_03_01:286934009 UMLS_CUI:C0026552 disease_ontology DOID:2560 morphine dependence An opiate dependence that involves the continued use of morphine despite despite problems related to use of the substance. url:http://en.wikipedia.org/wiki/Opioid_dependence MESH:D010482 NCI:C34913 SNOMEDCT_US_2016_03_01:109603007 SNOMEDCT_US_2016_03_01:196341005 SNOMEDCT_US_2016_03_01:34597006 UMLS_CUI:C0031024 Apical abscess Dentoalveolar abscess Periapical abscess (disorder) Suppurative apical periodontitis disease_ontology DOID:2562 suppurative periapical periodontitis Apical abscess SNOMEDCT_2005_07_31:34597006 Dentoalveolar abscess MTHICD9_2006:522.5 Dentoalveolar abscess NCI2004_11_17:C34913 Periapical abscess (disorder) SNOMEDCT_2005_07_31:196341005 Suppurative apical periodontitis SNOMEDCT_2005_07_31:109603007 Septicemia due to Serratia (disorder) Septicemia due to serratia disease_ontology DOID:2563 Serratia septicemia true Septicemia due to Serratia (disorder) SNOMEDCT_2005_07_31:82091000 Septicemia due to serratia ICD9CM_2006:038.44 A corneal dystrophy that is characterized by corneal haze, bilateral loss of vision, eventually necessitating corneal transplantation resulting from progressive punctate opacities in the cornea. ICD10CM:H18.55 ICD9CM:371.55 MESH:D003317 NCI:C34793 OMIM:217800 SNOMEDCT_US_2016_03_01:60258001 UMLS_CUI:C0024439 Fehr corneal dystrophy MACULAR DYSTROPHY, CORNEAL, 1 disease_ontology DOID:2565 macular corneal dystrophy A corneal dystrophy that is characterized by corneal haze, bilateral loss of vision, eventually necessitating corneal transplantation resulting from progressive punctate opacities in the cornea. url:http://disorders.eyes.arizona.edu/disorders/corneal-dystrophy-macular url:http://en.wikipedia.org/wiki/Macular_corneal_dystrophy url:http://www.ncbi.nlm.nih.gov/pubmed/11017086 url:http://www.ncbi.nlm.nih.gov/pubmed/17093400 url:http://www.omim.org/entry/217800?search=217800&highlight=217800 DOID:8944 ICD10CM:H18.5 ICD10CM:H18.50 ICD9CM:371.5 ICD9CM:371.50 MESH:D003317 NCI:C34512 NCI:C34513 SNOMEDCT_US_2016_03_01:193831005 SNOMEDCT_US_2016_03_01:193832003 SNOMEDCT_US_2016_03_01:193842001 SNOMEDCT_US_2016_03_01:5587004 SNOMEDCT_US_2016_03_01:77797009 UMLS_CUI:C0010035 UMLS_CUI:C0010036 disease_ontology DOID:2566 corneal dystrophy disease_ontology DOID:2567 primary Enterobacteriaceae infectious disease true DOID:10110 ICD10CM:N72 ICD9CM:616.0 MESH:D002575 NCI:C26716 SNOMEDCT_US_2016_03_01:155980007 SNOMEDCT_US_2016_03_01:198199009 SNOMEDCT_US_2016_03_01:198200007 SNOMEDCT_US_2016_03_01:198211004 SNOMEDCT_US_2016_03_01:237081003 SNOMEDCT_US_2016_03_01:266585004 SNOMEDCT_US_2016_03_01:266654000 SNOMEDCT_US_2016_03_01:37610005 SNOMEDCT_US_2016_03_01:80059007 UMLS_CUI:C0007860 UMLS_CUI:C0007861 disease_ontology DOID:2568 cervicitis ICD9CM:362.57 MESH:D015593 SNOMEDCT_US_2016_03_01:141199000 SNOMEDCT_US_2016_03_01:163999003 SNOMEDCT_US_2016_03_01:247153005 UMLS_CUI:C0035312 disease_ontology DOID:2569 OMIM mapping confirmed by DO. [SN]. retinal drusen MESH:D015620 SNOMEDCT_US_2016_03_01:127070008 UMLS_CUI:C0019613 disease_ontology DOID:2570 malignant histiocytic disease A histiocytosis that is characterized by clonal proliferation of Langerhans cells. DOID:10617 DOID:10618 DOID:10620 DOID:10623 DOID:10624 DOID:10625 DOID:2553 DOID:2554 DOID:9582 ICD10CM:C96.0 ICD10CM:C96.5 ICD10CM:C96.6 ICD9CM:202.5 MESH:C538636 MESH:D006646 NCI:C3107 NCI:C3160 NCI:C6920 OMIM:246400 OMIM:604856 SNOMEDCT_US_2016_03_01:110450007 SNOMEDCT_US_2016_03_01:118614007 SNOMEDCT_US_2016_03_01:128809007 SNOMEDCT_US_2016_03_01:128811003 SNOMEDCT_US_2016_03_01:128812005 SNOMEDCT_US_2016_03_01:154583006 SNOMEDCT_US_2016_03_01:154773005 SNOMEDCT_US_2016_03_01:188654004 SNOMEDCT_US_2016_03_01:188655003 SNOMEDCT_US_2016_03_01:188659009 SNOMEDCT_US_2016_03_01:190955000 SNOMEDCT_US_2016_03_01:190956004 SNOMEDCT_US_2016_03_01:190960001 SNOMEDCT_US_2016_03_01:234439008 SNOMEDCT_US_2016_03_01:236957004 SNOMEDCT_US_2016_03_01:267510005 SNOMEDCT_US_2016_03_01:269628007 SNOMEDCT_US_2016_03_01:366059005 SNOMEDCT_US_2016_03_01:39795003 SNOMEDCT_US_2016_03_01:65399007 SNOMEDCT_US_2016_03_01:67574008 UMLS_CUI:C0019621 UMLS_CUI:C0023381 Histiocytosis X Langerhan's cell histiocytosis (disorder) Langerhans cell granulomatosis Letterer-Siwe disease Letterer-Siwe disease involving intra-abdominal lymph nodes Letterer-Siwe disease involving intrapelvic lymph nodes Letterer-Siwe disease involving intrathoracic lymph nodes Letterer-Siwe disease involving lymph nodes of axilla and upper limb Letterer-Siwe disease involving lymph nodes of head, face and neck Letterer-Siwe disease involving lymph nodes of head, face, and neck Letterer-Siwe disease involving lymph nodes of inguinal region and lower limb Letterer-Siwe disease involving lymph nodes of multiple sites Letterer-Siwe disease involving spleen Letterer-Siwe disease of intra-abdominal lymph nodes Letterer-Siwe disease of intra-abdominal lymph nodes (disorder) Letterer-Siwe disease of intrapelvic lymph nodes Letterer-Siwe disease of intrapelvic lymph nodes (disorder) Letterer-Siwe disease of intrathoracic lymph nodes Letterer-Siwe disease of intrathoracic lymph nodes (disorder) Letterer-Siwe disease of lymph nodes of axilla and upper limb (disorder) Letterer-Siwe disease of lymph nodes of axilla and/or upper limb Letterer-Siwe disease of lymph nodes of axilla and/or upper limb (disorder) Letterer-Siwe disease of lymph nodes of head, face and neck (disorder) Letterer-Siwe disease of lymph nodes of head, face and/or neck (disorder) Letterer-Siwe disease of lymph nodes of inguinal region amd/or lower limb Letterer-Siwe disease of lymph nodes of inguinal region and lower limb (disorder) Letterer-Siwe disease of lymph nodes of inguinal region and/or lower limb (disorder) Letterer-Siwe disease of lymph nodes of multiple sites Letterer-Siwe disease of lymph nodes of multiple sites (disorder) Letterer-Siwe disease of spleen Letterer-Siwe disease of spleen (disorder) disease_ontology DOID:2571 OMIM mapping confirmed by DO. [SN]. Langerhans-cell histiocytosis A histiocytosis that is characterized by clonal proliferation of Langerhans cells. url:http://en.wikipedia.org/wiki/Langerhans_cell_histiocytosis Histiocytosis X SNOMEDCT_2005_07_31:269628007 Langerhan's cell histiocytosis (disorder) SNOMEDCT_2005_07_31:234439008 Langerhans cell granulomatosis CSP2005:0427-5330 Letterer-Siwe disease involving intra-abdominal lymph nodes ICD9CM_2006:202.53 Letterer-Siwe disease involving intrapelvic lymph nodes ICD9CM_2006:202.56 Letterer-Siwe disease involving intrathoracic lymph nodes ICD9CM_2006:202.52 Letterer-Siwe disease involving lymph nodes of axilla and upper limb ICD9CM_2006:202.54 Letterer-Siwe disease involving lymph nodes of head, face, and neck ICD9CM_2006:202.51 Letterer-Siwe disease involving lymph nodes of inguinal region and lower limb ICD9CM_2006:202.55 Letterer-Siwe disease involving lymph nodes of multiple sites ICD9CM_2006:202.58 Letterer-Siwe disease involving spleen ICD9CM_2006:202.57 Letterer-Siwe disease of intra-abdominal lymph nodes (disorder) SNOMEDCT_2005_07_31:93133006 Letterer-Siwe disease of intrapelvic lymph nodes (disorder) SNOMEDCT_2005_07_31:93134000 Letterer-Siwe disease of intrathoracic lymph nodes (disorder) SNOMEDCT_2005_07_31:93135004 Letterer-Siwe disease of lymph nodes of axilla and upper limb (disorder) SNOMEDCT_2005_07_31:188657006 Letterer-Siwe disease of lymph nodes of axilla and/or upper limb (disorder) SNOMEDCT_2005_07_31:93136003 Letterer-Siwe disease of lymph nodes of head, face and neck (disorder) SNOMEDCT_2005_07_31:188656002 Letterer-Siwe disease of lymph nodes of head, face and/or neck (disorder) SNOMEDCT_2005_07_31:93137007 Letterer-Siwe disease of lymph nodes of inguinal region and lower limb (disorder) SNOMEDCT_2005_07_31:188658001 Letterer-Siwe disease of lymph nodes of inguinal region and/or lower limb (disorder) SNOMEDCT_2005_07_31:93138002 Letterer-Siwe disease of lymph nodes of multiple sites (disorder) SNOMEDCT_2005_07_31:93139005 Letterer-Siwe disease of spleen (disorder) SNOMEDCT_2005_07_31:93140007 Drug-induced delirium (disorder) disease_ontology DOID:2573 drug-induced delirium true Drug-induced delirium (disorder) SNOMEDCT_2005_07_31:191492000 Diabetes mellitus juvenile type, uncontrolled, with renal manifestations Diabetes mellitus type I [juvenile type], uncontrolled, with renal manifestations disease_ontology DOID:2574 diabetes mellitus insulin dependent type uncontrolled with renal manifestations true Diabetes mellitus juvenile type, uncontrolled, with renal manifestations MTHICD9_2006:250.43 Diabetes mellitus type I [juvenile type], uncontrolled, with renal manifestations ICD9CM_2006:250.43 A drug dependence that involves the continued use of barbiturates despite problems related to use of the substance. ICD9CM:304.11 SNOMEDCT:231472009 UMLS_CUI:C0154482 disease_ontology DOID:2575 barbiturate dependence A drug dependence that involves the continued use of barbiturates despite problems related to use of the substance. url:http://en.wikipedia.org/wiki/Barbiturate_dependence A genetic disease that is characterized by systemic shortening of the proximal bones (i.e. rhizomelia), seizures, recurrent respiratory tract infections, and congential cataracts and has_material_basis_in mutations of the alkyldihydroxyacetonephosphate synthase (alkyl-DHAP synthase) gene. ICD10CM:E71.540 MESH:D018902 NCI:C85047 OMIM:PS215100 ORDO:177 SNOMEDCT_US_2016_03_01:56692003 UMLS_CUI:C0282529 Chondrodysplasia Punctata, Rhizomelic Form disease_ontology DOID:2580 OMIM mapping confirmed by DO. [SN]. rhizomelic chondrodysplasia punctata A genetic disease that is characterized by systemic shortening of the proximal bones (i.e. rhizomelia), seizures, recurrent respiratory tract infections, and congential cataracts and has_material_basis_in mutations of the alkyldihydroxyacetonephosphate synthase (alkyl-DHAP synthase) gene. url:http://en.wikipedia.org/wiki/Rhizomelic_chondrodysplasia_punctata url:http://ghr.nlm.nih.gov/condition/rhizomelic-chondrodysplasia-punctata url:http://www.healthline.com/galecontent/rhizomelic-chondrodysplasia-punctata ICD10CM:Q77.3 MESH:D002806 NCI:C84632 OMIM:215105 SNOMEDCT_US_2016_03_01:205486004 SNOMEDCT_US_2016_03_01:22932004 SNOMEDCT_US_2016_03_01:278715001 SNOMEDCT_US_2016_03_01:360507004 SNOMEDCT_US_2016_03_01:42778005 UMLS_CUI:C0008445 Chondrodysplasia calcificans congenita Chondrodysplasia punctata congenita (disorder) disease_ontology DOID:2581 DeObs MGI. chondrodysplasia punctata Chondrodysplasia calcificans congenita SNOMEDCT_2005_07_31:22932004 Chondrodysplasia punctata congenita (disorder) SNOMEDCT_2005_07_31:360507004 MESH:D020642 NCI:C84526 OMIM:614097 SNOMEDCT_US_2016_03_01:111393000 SNOMEDCT_US_2016_03_01:190954001 SNOMEDCT_US_2016_03_01:267454002 UMLS_CUI:C0268419 deficiency of catalase (disorder) disease_ontology DOID:2582 acatalasia deficiency of catalase (disorder) SNOMEDCT_2005_07_31:124202004 A B cell deficiency that is caused by a reduction in all types of gamma globulins. DOID:618 ICD10CM:D80.1 ICD9CM:279.00 MESH:D000361 NCI:C26931 OMIM:601495 OMIM:612692 OMIM:613500 OMIM:613501 OMIM:613502 OMIM:613506 OMIM:615214 SNOMEDCT_US_2016_03_01:119249001 SNOMEDCT_US_2016_03_01:119250001 SNOMEDCT_US_2016_03_01:190977001 SNOMEDCT_US_2016_03_01:190978006 SNOMEDCT_US_2016_03_01:267512002 SNOMEDCT_US_2016_03_01:81282009 UMLS_CUI:C0001768 UMLS_CUI:C0086438 IGHM hypogammaglobulinemia mu heavy chain deficiency disease_ontology DOID:2583 OMIM mapping confirmed by DO. [SN]. agammaglobulinemia A B cell deficiency that is caused by a reduction in all types of gamma globulins. url:http://en.wikipedia.org/wiki/Dysgammaglobulinemia hypogammaglobulinemia CSP2005:0449-3787 disease_ontology DOID:2584 nephrotic syndrome with lesion of endothelial glomerulonephritis true disease_ontology DOID:2585 nephrotic syndrome with lesion of segmental hyalinosis true Nephrotic syndrome with Lesion of Hypocomplementemic Glomerulonephritis disease_ontology DOID:2586 nephrotic syndrome with lesion of hypocomplementemic glomerulonephritis true Nephrotic syndrome with Lesion of Hypocomplementemic Glomerulonephritis NCI2004_11_17:C35536 Nephrotic syndrome with Lesion of Mesangiocapillary Glomerulonephritis disease_ontology DOID:2587 nephrotic syndrome with lesion of mesangiocapillary glomerulonephritis true Nephrotic syndrome with Lesion of Mesangiocapillary Glomerulonephritis NCI2004_11_17:C35539 Nephrotic syndrome with Lesion of Persistent Glomerulonephritis disease_ontology DOID:2588 nephrotic syndrome with lesion of persistent glomerulonephritis true Nephrotic syndrome with Lesion of Persistent Glomerulonephritis NCI2004_11_17:C35537 Nephrotic syndrome with lesion of membranous glomerulonephritis disease_ontology DOID:2589 nephrotic syndrome with lesion of membranous glomerulonephritis true Nephrotic syndrome with lesion of membranous glomerulonephritis ICD9CM_2006:581.1 disease_ontology DOID:259 abortion complicated by embolism true ICD10CM:N04 MESH:C535761 NCI:C35337 SNOMEDCT_US_2016_03_01:197602005 SNOMEDCT_US_2016_03_01:48796009 UMLS_CUI:C3501848 Congenital Nephrotic syndrome Congenital nephrotic syndrome disease_ontology DOID:2590 familial nephrotic syndrome Congenital Nephrotic syndrome NCI2004_11_17:C35337 Congenital nephrotic syndrome SNOMEDCT_2005_07_31:48796009 Nephrotic syndrome with Lesion of Lobular Glomerulonephritis disease_ontology DOID:2591 nephrotic syndrome with lesion of lobular glomerulonephritis true Nephrotic syndrome with Lesion of Lobular Glomerulonephritis NCI2004_11_17:C35538 Nephrotic syndrome with Lesion of Focal Glomerulosclerosis disease_ontology DOID:2592 nephrotic syndrome with lesion of focal glomerulosclerosis true Nephrotic syndrome with Lesion of Focal Glomerulosclerosis NCI2004_11_17:C35533 ICD10CM:C32.0 ICD9CM:161.0 NCI:C3544 SNOMEDCT_US_2016_03_01:154481005 SNOMEDCT_US_2016_03_01:187841006 SNOMEDCT_US_2016_03_01:269557000 UMLS_CUI:C0153483 Ca larynx - glottis Ca larynx - glottis (disorder) malignant tumor of glottis (disorder) malignant tumor of the Glottis disease_ontology DOID:2595 glottis cancer Ca larynx - glottis SNOMEDCT_2005_07_31:154481005 Ca larynx - glottis (disorder) SNOMEDCT_2005_07_31:269557000 malignant tumor of glottis (disorder) SNOMEDCT_2005_07_31:187841006 malignant tumor of the Glottis NCI2004_11_17:C3544 A respiratory system cancer that is located_in the larynx. ICD10CM:C32 ICD10CM:C32.9 ICD9CM:161 ICD9CM:161.9 MESH:D007822 NCI:C7484 SNOMEDCT_US_2016_03_01:154484002 SNOMEDCT_US_2016_03_01:187851007 SNOMEDCT_US_2016_03_01:269560007 SNOMEDCT_US_2016_03_01:363429002 SNOMEDCT_US_2016_03_01:93859007 UMLS_CUI:C0007107 disease_ontology DOID:2596 larynx cancer A respiratory system cancer that is located_in the larynx. url:http://en.wikipedia.org/wiki/Larynx NCI:C4425 SNOMEDCT_US_2016_03_01:126693009 UMLS_CUI:C0345713 neoplasm of glottis (disorder) tumor of the Glottis disease_ontology DOID:2597 glottis neoplasm neoplasm of glottis (disorder) SNOMEDCT_2005_07_31:126693009 tumor of the Glottis NCI2004_11_17:C4425 MESH:D007822 NCI:C3156 SNOMEDCT_US_2016_03_01:126692004 UMLS_CUI:C0023055 laryngeal tumor larynx neoplasm neoplasm of larynx (disorder) disease_ontology DOID:2598 laryngeal benign neoplasm laryngeal tumor NCI2004_11_17:C3156 larynx neoplasm CSP2005:2017-5694 neoplasm of larynx (disorder) SNOMEDCT_2005_07_31:126692004 NCI:C4923 SNOMEDCT_US_2016_03_01:372103002 UMLS_CUI:C0740083 Glottic carcinoma carcinoma of glottis (disorder) disease_ontology DOID:2599 glottis carcinoma Glottic carcinoma NCI2004_11_17:C4923 carcinoma of glottis (disorder) SNOMEDCT_2005_07_31:372103002 An endocrine system disease that is located_in the pancreas. ICD10CM:K86.8 ICD9CM:577.8 SNOMEDCT_US_2016_03_01:197566002 UMLS_CUI:C0029771 disease_ontology DOID:26 pancreas disease An endocrine system disease that is located_in the pancreas. url:http://en.wikipedia.org/wiki/Pancreatic_disease ICD10CM:C18.3 ICD9CM:153.0 SNOMEDCT_US_2016_03_01:154455006 SNOMEDCT_US_2016_03_01:269534006 SNOMEDCT_US_2016_03_01:363407001 SNOMEDCT_US_2016_03_01:93826009 UMLS_CUI:C0153433 Ca hepatic flexure - colon Ca hepatic flexure - colon (disorder) malignant neoplasm of hepatic flexure malignant tumor of hepatic flexure (disorder) disease_ontology DOID:260 hepatic flexure cancer Ca hepatic flexure - colon SNOMEDCT_2005_07_31:154455006 Ca hepatic flexure - colon (disorder) SNOMEDCT_2005_07_31:269534006 malignant neoplasm of hepatic flexure ICD9CM_2006:153.0 malignant tumor of hepatic flexure (disorder) SNOMEDCT_2005_07_31:363407001 A larynx cancer that has_material_basis_in epithelial cells. NCI:C4855 SNOMEDCT_US_2016_03_01:154480006 SNOMEDCT_US_2016_03_01:276975007 SNOMEDCT_US_2016_03_01:93859007 UMLS_CUI:C0595989 cancer of Larynx cancer of larynx carcinoma of larynx (disorder) disease_ontology DOID:2600 laryngeal carcinoma A larynx cancer that has_material_basis_in epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma cancer of Larynx NCI2004_11_17:C4855 cancer of larynx SNOMEDCT_2005_07_31:93859007 carcinoma of larynx (disorder) SNOMEDCT_2005_07_31:276975007 NCI:C4302 SNOMEDCT_US_2016_03_01:9266000 UMLS_CUI:C0334548 Juxtacortical chondroma (morphologic abnormality) Periosteal Chondroma disease_ontology DOID:2601 juxtacortical chondroma Juxtacortical chondroma (morphologic abnormality) SNOMEDCT_2005_07_31:9266000 Periosteal Chondroma NCI2004_11_17:C4302 A cell type benign neoplasm that is a cartilaginous tumor encapsulated with a lobular growing pattern. MESH:D002812 NCI:C53459 SNOMEDCT_US_2016_03_01:154611005 SNOMEDCT_US_2016_03_01:187899007 SNOMEDCT_US_2016_03_01:188980001 SNOMEDCT_US_2016_03_01:189885004 SNOMEDCT_US_2016_03_01:269638002 SNOMEDCT_US_2016_03_01:31186001 UMLS_CUI:C0936248 Chondroma (morphologic abnormality) Chondroma NOS (morphologic abnormality) central Chondroma disease_ontology DOID:2602 chondroma A cell type benign neoplasm that is a cartilaginous tumor encapsulated with a lobular growing pattern. url:http://en.wikipedia.org/wiki/Chondroma Chondroma (morphologic abnormality) SNOMEDCT_2005_07_31:31186001 Chondroma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189885004 central Chondroma NCI2004_11_17:C3007 A carcinosarcoma that has_material_basis_in gland and muscle components. MESH:D018194 NCI:C3726 SNOMEDCT_US_2016_03_01:40293003 UMLS_CUI:C0206622 adenomyoma (morphologic abnormality) disease_ontology DOID:2609 adenomyoma A carcinosarcoma that has_material_basis_in gland and muscle components. url:http://en.wikipedia.org/wiki/Adenomyoma adenomyoma (morphologic abnormality) SNOMEDCT_2005_07_31:40293003 ICD10CM:C18.4 ICD9CM:153.1 SNOMEDCT_US_2016_03_01:154456007 SNOMEDCT_US_2016_03_01:269535007 SNOMEDCT_US_2016_03_01:363408006 SNOMEDCT_US_2016_03_01:94105000 UMLS_CUI:C0153434 Ca transverse colon Ca transverse colon (disorder) malignant tumor of transverse colon (disorder) disease_ontology DOID:261 transverse colon cancer Ca transverse colon SNOMEDCT_2005_07_31:154456007 Ca transverse colon (disorder) SNOMEDCT_2005_07_31:269535007 malignant tumor of transverse colon (disorder) SNOMEDCT_2005_07_31:363408006 NCI:C4181 SNOMEDCT_US_2016_03_01:189689007 SNOMEDCT_US_2016_03_01:67073007 UMLS_CUI:C0334360 serous Surface papilloma serous surface papilloma (morphologic abnormality) serous surface papilloma NOS (morphologic abnormality) disease_ontology DOID:2614 serous surface papilloma serous Surface papilloma NCI2004_11_17:C4181 serous surface papilloma (morphologic abnormality) SNOMEDCT_2005_07_31:67073007 serous surface papilloma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189689007 A cell type benign neoplam that is composed_of epithelial tissue on papillae of vascularized connective tissue. DOID:1635 MESH:D010212 NCI:C3713 NCI:C7440 SNOMEDCT_US_2016_03_01:189564006 SNOMEDCT_US_2016_03_01:23730008 SNOMEDCT_US_2016_03_01:711329002 SNOMEDCT_US_2016_03_01:82049002 UMLS_CUI:C0030354 UMLS_CUI:C0205875 papilloma (except papilloma of bladder M-81201) (morphologic abnormality) papillomatosis papillomatosis NOS (morphologic abnormality) papillomatosis, NOS disease_ontology DOID:2615 papilloma A cell type benign neoplam that is composed_of epithelial tissue on papillae of vascularized connective tissue. url:http://www.merriam-webster.com/medlineplus/papilloma papilloma (except papilloma of bladder M-81201) (morphologic abnormality) SNOMEDCT_2005_07_31:23730008 papillomatosis NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189564006 papillomatosis, NOS SNOMEDCT_2005_07_31:82049002 NCI:C4294 SNOMEDCT_US_2016_03_01:72889001 UMLS_CUI:C0334530 Mesonephric adenoma Mesonephroma, benign (morphologic abnormality) disease_ontology Wolffian duct adenoma DOID:2616 Wolffian duct adenoma Mesonephric adenoma NCI2004_11_17:C4294 Mesonephroma, benign (morphologic abnormality) SNOMEDCT_2005_07_31:72889001 A kidney cancer which is manifested in the kidney. NCI:C4527 SNOMEDCT_US_2016_03_01:254923001 UMLS_CUI:C0346256 hemangiopericytoma of kidney (disorder) renal hemangiopericytoma disease_ontology DOID:262 kidney hemangiopericytoma A kidney cancer which is manifested in the kidney. url:http://en.wikipedia.org/wiki/Hemangiopericytoma url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1466284/ hemangiopericytoma of kidney (disorder) SNOMEDCT_2005_07_31:254923001 renal hemangiopericytoma NCI2004_11_17:C4527 ductal, lobular and medullary neoplasm (morphologic abnormality) ductal, lobular and medullary tumor (qualifier value) disease_ontology DOID:2620 ductal, lobular, and medullary neoplasm true ductal, lobular and medullary neoplasm (morphologic abnormality) SNOMEDCT_2005_07_31:189704005 ductal, lobular and medullary tumor (qualifier value) SNOMEDCT_2005_07_31:134321001 A peripheral nervous system neoplasm that is located_in the autonomic nervous system. NCI:C5112 UMLS_CUI:C1332356 tumor of Autonomic nervous system disease_ontology DOID:2621 autonomic nervous system neoplasm A peripheral nervous system neoplasm that is located_in the autonomic nervous system. url:http://en.wikipedia.org/wiki/Autonomic_nervous_system tumor of Autonomic nervous system NCI2004_11_17:C5112 disease_ontology DOID:2622 neuroblastic tumor true neuronal and Glio-neuronal tumor neuronal and mixed neuronal-glial tumor (morphologic abnormality) disease_ontology DOID:2623 neuronal and glio-neuronal neoplasm true neuronal and Glio-neuronal tumor NCI2004_11_17:C4747 neuronal and mixed neuronal-glial tumor (morphologic abnormality) SNOMEDCT_2005_07_31:302831000 DOID:3661 MESH:D020288 NCI:C3698 NCI:C5800 OMIM:260500 SNOMEDCT_US_2016_03_01:18021007 SNOMEDCT_US_2016_03_01:189911002 UMLS_CUI:C0205770 UMLS_CUI:C1332963 Choroid plexus papilloma NOS (morphologic abnormality) Choroid plexus papilloma, no ICD-O subtype (morphologic abnormality) childhood choroid plexus papilloma papilloma of the Choroid Plexus pediatric papilloma of Choroid Plexus disease_ontology childhood papilloma of choroid plexus DOID:2626 OMIM mapping confirmed by DO. [SN]. choroid plexus papilloma Choroid plexus papilloma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189911002 Choroid plexus papilloma, no ICD-O subtype (morphologic abnormality) SNOMEDCT_2005_07_31:18021007 papilloma of the Choroid Plexus NCI2004_11_17:C3698 pediatric papilloma of Choroid Plexus NCI2004_11_17:C5800 Papillary serous cystadenoma (morphologic abnormality) Papillary serous cystadenoma NOS (morphologic abnormality) disease_ontology DOID:2629 papillary serous cystadenoma true Papillary serous cystadenoma (morphologic abnormality) SNOMEDCT_2005_07_31:22116003 Papillary serous cystadenoma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189688004 A urinary system cancer that is located_in the kidney. DOID:11834 DOID:3676 ICD10CM:C64 ICD9CM:189.0 MESH:D007680 NCI:C120456 NCI:C3150 NCI:C7548 SNOMEDCT_US_2016_03_01:126880001 SNOMEDCT_US_2016_03_01:154542008 SNOMEDCT_US_2016_03_01:188249002 SNOMEDCT_US_2016_03_01:363518003 SNOMEDCT_US_2016_03_01:93849006 UMLS_CUI:C0022665 UMLS_CUI:C0494158 UMLS_CUI:C0740457 malignant neoplasm of kidney except pelvis malignant tumour of kidney renal cancer disease_ontology DOID:263 kidney cancer A urinary system cancer that is located_in the kidney. url:http://en.wikipedia.org/wiki/Kidney_cancer malignant tumour of kidney SNOMEDCT_2005_07_31:154542008 Papillary Cystadenoma Papillary cystadenoma (morphologic abnormality) Papillary cystadenoma NOS (morphologic abnormality) disease_ontology DOID:2630 papillary cystadenoma true Papillary Cystadenoma NCI2004_11_17:C2974 Papillary cystadenoma (morphologic abnormality) SNOMEDCT_2005_07_31:32140001 Papillary cystadenoma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189686000 serous Cystoma serous cystadenoma NOS (morphologic abnormality) serous microcystic adenoma disease_ontology DOID:2631 serous cystadenoma true serous Cystoma NCI2004_11_17:C3783 serous cystadenoma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189684002 serous microcystic adenoma SNOMEDCT_2005_07_31:51608009 A papillary adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures with psammoma bodies. DOID:5589 NCI:C4182 NCI:C6882 NCI:C8377 SNOMEDCT_US_2016_03_01:15674004 SNOMEDCT_US_2016_03_01:90282004 UMLS_CUI:C0334359 UMLS_CUI:C0334361 Micropapillary serous carcinoma Papillary serous carcinoma serous surface papillary carcinoma serous surface papillary carcinoma (morphologic abnormality) disease_ontology DOID:2632 papillary serous adenocarcinoma A papillary adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures with psammoma bodies. url:http://www.uptodate.com/contents/topic.do?topicKey=OBGYN/3192 Micropapillary serous carcinoma NCI2004_11_17:C6882 Micropapillary serous carcinoma SNOMEDCT_2005_07_31:90282004 Papillary serous carcinoma NCI2004_11_17:C8377 serous surface papillary carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:15674004 mucinous adenoma mucinous adenoma (morphologic abnormality) mucinous cystadenoma mucinous cystadenoma (morphologic abnormality) disease_ontology DOID:2633 mucinous cystadenoma true mucinous adenoma NCI2004_11_17:C2973 mucinous adenoma (morphologic abnormality) SNOMEDCT_2005_07_31:33170000 mucinous cystadenoma SNOMEDCT_2005_07_31:189691004 mucinous cystadenoma (morphologic abnormality) SNOMEDCT_2005_07_31:67182003 An adenoma that is a cystic. MESH:D003537 NCI:C2972 SNOMEDCT_US_2016_03_01:189680006 SNOMEDCT_US_2016_03_01:47620003 UMLS_CUI:C0010633 Cystadenoma (morphologic abnormality) Cystoma disease_ontology DOID:2634 cystadenoma An adenoma that is a cystic. url:http://en.wikipedia.org/wiki/Cystadenoma Cystadenoma (morphologic abnormality) SNOMEDCT_2005_07_31:47620003 Cystoma NCI2004_11_17:C2972 mucinous tumor disease_ontology DOID:2635 mucinous neoplasm true An ovarian benign neoplasm that has_material_basis_in the surface epithelium of the ovary. MESH:D001948 NCI:C3872 NCI:C39954 SNOMEDCT_US_2016_03_01:189818009 SNOMEDCT_US_2016_03_01:189819001 SNOMEDCT_US_2016_03_01:254859006 SNOMEDCT_US_2016_03_01:74739000 UMLS_CUI:C0006160 benign ovarian Brenner tumor disease_ontology DOID:2636 ovarian Brenner tumor An ovarian benign neoplasm that has_material_basis_in the surface epithelium of the ovary. url:https://en.wikipedia.org/wiki/Brenner_tumour NCI:C4272 SNOMEDCT_US_2016_03_01:41382006 UMLS_CUI:C0334497 Pericanalicular Fibroadenoma of breast Pericanalicular fibroadenoma (morphologic abnormality) disease_ontology DOID:2639 breast pericanalicular fibroadenoma Pericanalicular Fibroadenoma of breast NCI2004_11_17:C4272 Pericanalicular fibroadenoma (morphologic abnormality) SNOMEDCT_2005_07_31:41382006 A soft tissue cancer that is a soft tissue sarcoma and originates in the pericytes in the walls of capillaries. DOID:5372 MESH:D006393 NCI:C3087 SNOMEDCT_US_2016_03_01:134335004 SNOMEDCT_US_2016_03_01:36060005 UMLS_CUI:C0018922 Haemangiopericytic meningioma [obs] hemangiopericytoma, malignant (morphologic abnormality) malignant hemangiopericytoma disease_ontology DOID:264 hemangiopericytoma A soft tissue cancer that is a soft tissue sarcoma and originates in the pericytes in the walls of capillaries. url:http://en.wikipedia.org/wiki/Hemangiopericytoma Haemangiopericytic meningioma [obs] SNOMEDCT_2005_07_31:36060005 hemangiopericytoma, malignant (morphologic abnormality) SNOMEDCT_2005_07_31:84664004 MESH:D013330 NCI:C7468 SNOMEDCT_US_2016_03_01:189851000 SNOMEDCT_US_2016_03_01:24327009 UMLS_CUI:C0038478 Struma ovarii (morphologic abnormality) Struma ovarii NOS (morphologic abnormality) disease_ontology DOID:2640 struma ovarii Struma ovarii (morphologic abnormality) SNOMEDCT_2005_07_31:24327009 Struma ovarii NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189851000 NCI:C8113 UMLS_CUI:C0280134 Ovarian Monodermal and Highly Specialized teratoma disease_ontology DOID:2641 ovarian germ cell monodermal and highly specialized teratoma Ovarian Monodermal and Highly Specialized teratoma NCI2004_11_17:C8113 Lymphangioleiomyoma Lymphangiomyoma (morphologic abnormality) disease_ontology DOID:2642 lymphangiomyoma true Lymphangioleiomyoma NCI2004_11_17:C3204 Lymphangiomyoma (morphologic abnormality) SNOMEDCT_2005_07_31:25239006 MESH:D054973 NCI:C38150 SNOMEDCT_US_2016_03_01:388601000 UMLS_CUI:C1300127 PEComa neoplasm with Perivascular epithelioid cell differentiation disease_ontology DOID:2643 perivascular epithelioid cell tumor neoplasm with Perivascular epithelioid cell differentiation NCI2004_11_17:C38150 A cell type benign neoplasm that has_material_basis in mesothelium. DOID:2644 ICD10CM:C45 ICD10CM:C45.9 MESH:D008654 NCI:C3234 SNOMEDCT_US_2016_03_01:154491004 SNOMEDCT_US_2016_03_01:187873000 SNOMEDCT_US_2016_03_01:189837000 SNOMEDCT_US_2016_03_01:190110008 SNOMEDCT_US_2016_03_01:62064005 UMLS_CUI:C0025500 benign tumor of Mesothelium disease_ontology DOID:2645 benign mesothelioma A cell type benign neoplasm that has_material_basis in mesothelium. url:http://www.mayoclinic.org/diseases-conditions/mesothelioma/basics/definition/con-20026157?_ga=1.105809091.1500897651.1410548817 benign tumor of Mesothelium NCI2004_11_17:C4280 NCI:C6581 SNOMEDCT_US_2016_03_01:128786009 SNOMEDCT_US_2016_03_01:404086000 UMLS_CUI:C1266175 disease_ontology DOID:2647 parachordoma DOID:7387 NCI:C4174 SNOMEDCT_US_2016_03_01:78424008 UMLS_CUI:C1368816 Sebaceous adenoma (morphologic abnormality) adenoma of the Sebaceous gland skin appendage sebaceous adenoma disease_ontology DOID:2648 sebaceous adenoma Sebaceous adenoma (morphologic abnormality) SNOMEDCT_2005_07_31:78424008 adenoma of the Sebaceous gland NCI2004_11_17:C4174 MESH:D002804 NCI:C2945 SNOMEDCT_US_2016_03_01:134337007 SNOMEDCT_US_2016_03_01:189887007 SNOMEDCT_US_2016_03_01:9001003 UMLS_CUI:C0008441 Chondroblastoma of bone disease_ontology DOID:2649 chondroblastoma Chondroblastoma of bone SNOMEDCT_2005_07_31:134337007 An angiosarcoma and hemangioma of intra-abdominal structure and malignant soft tissue neoplasm of the spleen that results_in a nonhematolymphoid malignant neoplasm of the spleen. NCI:C4564 SNOMEDCT_US_2016_03_01:187821001 UMLS_CUI:C0346424 Splenic hemangiosarcoma angiosarcoma of spleen (disorder) disease_ontology DOID:265 spleen angiosarcoma An angiosarcoma and hemangioma of intra-abdominal structure and malignant soft tissue neoplasm of the spleen that results_in a nonhematolymphoid malignant neoplasm of the spleen. url:http://radiology.rsna.org/content/235/1/106.full Splenic hemangiosarcoma NCI2004_11_17:C4564 angiosarcoma of spleen (disorder) SNOMEDCT_2005_07_31:187821001 Intraductal papillomatosis Intraductal papillomatosis (morphologic abnormality) Intraductal papillomatosis NOS (morphologic abnormality) disease_ontology DOID:2651 intraductal papillomatosis true Intraductal papillomatosis NCI2004_11_17:C7363 Intraductal papillomatosis (morphologic abnormality) SNOMEDCT_2005_07_31:32296002 Intraductal papillomatosis NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189710005 MESH:D054363 NCI:C4457 SNOMEDCT_US_2016_03_01:15702005 SNOMEDCT_US_2016_03_01:254646001 UMLS_CUI:C0334511 fibrous mesothelioma, benign (morphologic abnormality) localized benign fibrous Mesothelioma disease_ontology DOID:2653 benign fibrous mesothelioma fibrous mesothelioma, benign (morphologic abnormality) SNOMEDCT_2005_07_31:15702005 localized benign fibrous Mesothelioma NCI2004_11_17:C4281 disease_ontology DOID:2654 serous neoplasm true NCI:C4271 SNOMEDCT_US_2016_03_01:189821006 SNOMEDCT_US_2016_03_01:72905006 UMLS_CUI:C0334496 disease_ontology DOID:2656 breast intracanalicular fibroadenoma ICD10CM:K09.8 MESH:D003884 NCI:C9011 SNOMEDCT_US_2016_03_01:123151001 SNOMEDCT_US_2016_03_01:189117002 SNOMEDCT_US_2016_03_01:189845005 SNOMEDCT_US_2016_03_01:269641006 SNOMEDCT_US_2016_03_01:416529009 SNOMEDCT_US_2016_03_01:417137001 SNOMEDCT_US_2016_03_01:417609007 SNOMEDCT_US_2016_03_01:419952004 SNOMEDCT_US_2016_03_01:439575008 SNOMEDCT_US_2016_03_01:72277008 UMLS_CUI:C0011649 Dermoid choristoma Dermoid tumour Mature cystic teratoma cystic dermoid choristoma teratoma, benign teratoma, benign (morphologic abnormality) disease_ontology DOID:2658 dermoid cyst Dermoid choristoma SNOMEDCT_2005_07_31:417137001 Dermoid tumour SNOMEDCT_2005_07_31:417609007 Mature cystic teratoma NCI2004_11_17:C9011 cystic dermoid choristoma SNOMEDCT_2005_07_31:416529009 teratoma, benign SNOMEDCT_2005_07_31:189119004 teratoma, benign (morphologic abnormality) SNOMEDCT_2005_07_31:42717009 malignant soft tissue tumor of Spleen disease_ontology DOID:266 malignant soft tissue neoplasm of the spleen true malignant soft tissue tumor of Spleen NCI2004_11_17:C7292 NCI:C9014 SNOMEDCT_US_2016_03_01:42717009 UMLS_CUI:C1368903 disease_ontology DOID:2660 cystic teratoma A sweat gland neoplasm that is composed_of outgrowths of myoepithelial cells from a sweat gland. MESH:D009208 NCI:C40392 SNOMEDCT_US_2016_03_01:69291002 UMLS_CUI:C0027070 Myoepithelial adenoma Myoepithelial neoplasm benign myoepithelioma disease_ontology DOID:2661 myoepithelioma A sweat gland neoplasm that is composed_of outgrowths of myoepithelial cells from a sweat gland. url:http://medical-dictionary.thefreedictionary.com/myoepithelioma Myoepithelial adenoma SNOMEDCT_2005_07_31:69291002 Myoepithelial neoplasm NCI2004_11_17:C40392 benign myoepithelioma NCI2004_11_17:C7442 MESH:D013544 NCI:C3398 SNOMEDCT_US_2016_03_01:126490003 SNOMEDCT_US_2016_03_01:12933008 SNOMEDCT_US_2016_03_01:189665000 UMLS_CUI:C0038987 Sweat gland tumor (morphologic abnormality) Sweat gland tumor NOS (morphologic abnormality) neoplasm of sweat gland (disorder) tumor of the Sweat gland disease_ontology DOID:2664 sweat gland neoplasm Sweat gland tumor (morphologic abnormality) SNOMEDCT_2005_07_31:12933008 Sweat gland tumor NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189665000 neoplasm of sweat gland (disorder) SNOMEDCT_2005_07_31:126490003 tumor of the Sweat gland NCI2004_11_17:C3398 NCI:C4267 SNOMEDCT_US_2016_03_01:38406003 UMLS_CUI:C0334491 Mesenchymoma, benign (morphologic abnormality) disease_ontology DOID:2667 benign mesenchymoma Mesenchymoma, benign (morphologic abnormality) SNOMEDCT_2005_07_31:38406003 MESH:D008637 NCI:C3233 SNOMEDCT_US_2016_03_01:189809007 SNOMEDCT_US_2016_03_01:44524009 UMLS_CUI:C0025464 disease_ontology DOID:2668 mesenchymoma NCI:C4328 SNOMEDCT_US_2016_03_01:404033003 SNOMEDCT_US_2016_03_01:4230004 UMLS_CUI:C0334599 Pacinian Neurofibroma Pacinian neurofibroma (disorder) Pacinian tumor (morphologic abnormality) disease_ontology DOID:2669 Pacinian tumor Pacinian Neurofibroma NCI2004_11_17:C4328 Pacinian neurofibroma (disorder) SNOMEDCT_2005_07_31:404033003 Pacinian tumor (morphologic abnormality) SNOMEDCT_2005_07_31:4230004 NCI:C4115 SNOMEDCT_US_2016_03_01:189575005 SNOMEDCT_US_2016_03_01:44342003 SNOMEDCT_US_2016_03_01:45083001 UMLS_CUI:C0334266 transitional cell papilloma transitional cell papilloma NOS (morphologic abnormality) transitional cell papilloma, benign (morphologic abnormality) disease_ontology DOID:2670 transitional papilloma transitional cell papilloma SNOMEDCT_2005_07_31:45083001 transitional cell papilloma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189575005 transitional cell papilloma, benign (morphologic abnormality) SNOMEDCT_2005_07_31:44342003 A carcinoma that derives_from transitional epithelial cells. DOID:3995 MESH:D002295 NCI:C2930 NCI:C6783 SNOMEDCT_US_2016_03_01:118287003 SNOMEDCT_US_2016_03_01:189576006 SNOMEDCT_US_2016_03_01:27090000 UMLS_CUI:C0007138 UMLS_CUI:C0334265 transitional carcinoma transitional cell tumor urothelial cell carcinoma disease_ontology transitional cell neoplasm DOID:2671 transitional cell carcinoma A carcinoma that derives_from transitional epithelial cells. url:http://en.wikipedia.org/wiki/Transitional_cell_carcinoma transitional carcinoma NCI2004_11_17:C2930 transitional cell tumor NCI2004_11_17:C6783 disease_ontology DOID:2673 cystic nephroma Papillary mucinous cystadenoma (morphologic abnormality) Papillary mucinous cystadenoma NOS (morphologic abnormality) disease_ontology DOID:2676 papillary pseudomucinous cystadenoma true Papillary mucinous cystadenoma (morphologic abnormality) SNOMEDCT_2005_07_31:36721002 Papillary mucinous cystadenoma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189693001 A mixed neoplasm that is seen mostly in early infancy and that consists of classic and cellular (atypical) variants. NCI:C37263 NCI:C37264 SNOMEDCT_US_2016_03_01:388985009 UMLS_CUI:C1272677 MEST benign MEST mixed epithelial and stromal tumour of kidney disease_ontology DOID:2678 adult mesoblastic nephroma A mixed neoplasm that is seen mostly in early infancy and that consists of classic and cellular (atypical) variants. url:http://www.ncbi.nlm.nih.gov/pubmed/9669345 MEST NCI2004_11_17:C37263 benign MEST NCI2004_11_17:C37264 mixed epithelial and stromal tumour of kidney SNOMEDCT_2005_07_31:388985009 NCI:C9505 SNOMEDCT_US_2016_03_01:128788005 SNOMEDCT_US_2016_03_01:87211000119104 UMLS_CUI:C1266177 Dysembryoplastic Neuroepithelial neoplasm Dysembryoplastic neuroepithelial tumor (morphologic abnormality) disease_ontology DOID:2679 dysembryoplastic neuroepithelial tumor Dysembryoplastic Neuroepithelial neoplasm NCI2004_11_17:C9505 Dysembryoplastic neuroepithelial tumor (morphologic abnormality) SNOMEDCT_2005_07_31:128788005 An angiosarcoma and sarcoma of liver and hemangioma of intra-abdominal structure and Ca liver - primary that is located_in the liver. ICD10CM:C22.3 NCI:C4438 SNOMEDCT_US_2016_03_01:109844006 SNOMEDCT_US_2016_03_01:187770005 UMLS_CUI:C0345907 angiosarcoma of liver angiosarcoma of liver (disorder) hemangiosarcoma of the Liver disease_ontology DOID:268 liver angiosarcoma An angiosarcoma and sarcoma of liver and hemangioma of intra-abdominal structure and Ca liver - primary that is located_in the liver. url:http://emedicine.medscape.com/article/276512-overview angiosarcoma of liver SNOMEDCT_2005_07_31:187770005 angiosarcoma of liver (disorder) SNOMEDCT_2005_07_31:109844006 hemangiosarcoma of the Liver NCI2004_11_17:C4438 pediatric neoplasm of CNS disease_ontology DOID:2680 pediatric central nervous system tumor true pediatric neoplasm of CNS NCI2004_11_17:C5132 Mole NOS Mole of skin nevus nevus (disorder) nevus, NOS skin mole, NOS disease_ontology DOID:2681 nevus true Mole NOS MTHICD9_2006:631 Mole of skin SNOMEDCT_2005_07_31:109265005 Mole of skin SNOMEDCT_2005_07_31:189051001 nevus CSP2005:0726-9782 nevus MTH:NOCODE nevus (disorder) SNOMEDCT_2005_07_31:247456007 nevus, NOS SNOMEDCT_2005_07_31:21119008 skin mole, NOS SNOMEDCT_2005_07_31:51697005 NCI:C4191 SNOMEDCT_US_2016_03_01:47488001 UMLS_CUI:C0334374 Intracystic papillary adenoma (morphologic abnormality) Intracystic papilloma disease_ontology DOID:2682 intracystic papillary adenoma Intracystic papillary adenoma (morphologic abnormality) SNOMEDCT_2005_07_31:47488001 Intracystic papilloma NCI2004_11_17:C4191 A cell type benign neoplasm that is composed_of glandular and fibrous tissues, with a relatively large proportion of glands. MESH:D000232 NCI:C8984 SNOMEDCT_US_2016_03_01:189823009 SNOMEDCT_US_2016_03_01:2962009 UMLS_CUI:C0001422 adenofibroma, no ICD-O subtype (morphologic abnormality) disease_ontology DOID:2683 adenofibroma A cell type benign neoplasm that is composed_of glandular and fibrous tissues, with a relatively large proportion of glands. url:http://www.ncbi.nlm.nih.gov/mesh/68000232 adenofibroma, no ICD-O subtype (morphologic abnormality) SNOMEDCT_2005_07_31:2962009 NCI:C6582 SNOMEDCT_US_2016_03_01:128745002 SNOMEDCT_US_2016_03_01:404076001 UMLS_CUI:C1266128 Ossifying Fibromyxoma Ossifying fibromyxoid tumor (disorder) Ossifying fibromyxoid tumor (morphologic abnormality) disease_ontology DOID:2685 ossifying fibromyxoid tumor Ossifying Fibromyxoma NCI2004_11_17:C6582 Ossifying fibromyxoid tumor (disorder) SNOMEDCT_2005_07_31:404076001 Ossifying fibromyxoid tumor (morphologic abnormality) SNOMEDCT_2005_07_31:128745002 NCI:C5585 UMLS_CUI:C0856900 Cutaneous sarcoma disease_ontology DOID:2687 skin sarcoma Cutaneous sarcoma NCI2004_11_17:C5585 A lymphatic system cancer that has_material_basis_in endothelial cells located_in lymphatic vessels. DOID:2686 MESH:C537491 MESH:D008204 NCI:C3205 NCI:C4490 SNOMEDCT_US_2016_03_01:403986008 SNOMEDCT_US_2016_03_01:62497000 SNOMEDCT_US_2016_03_01:63373002 UMLS_CUI:C0024224 UMLS_CUI:C0346082 Lymphangiosarcoma of Stewart and Treves Stewart-Treves syndrome (disorder) malignant Lymphangioendothelioma skin lymphangiosarcoma disease_ontology DOID:2689 lymphangiosarcoma A lymphatic system cancer that has_material_basis_in endothelial cells located_in lymphatic vessels. ISBN:0-7817-2229-2 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=9796078 url:https://en.wikipedia.org/wiki/Lymphangiosarcoma Lymphangiosarcoma of Stewart and Treves NCI2004_11_17:C4490 Stewart-Treves syndrome (disorder) SNOMEDCT_2005_07_31:62497000 malignant Lymphangioendothelioma NCI2004_11_17:C3205 ICD10CM:D21 MESH:D009214 NCI:C4882 SNOMEDCT_US_2016_03_01:66357004 SNOMEDCT_US_2016_03_01:92237006 UMLS_CUI:C0027086 benign neoplasm of the Muscle disease_ontology DOID:2691 myoma benign neoplasm of the Muscle NCI2004_11_17:C4882 MESH:D007984 NCI:C3188 SNOMEDCT_US_2016_03_01:189739005 SNOMEDCT_US_2016_03_01:45002009 UMLS_CUI:C0023601 Leydig cell neoplasm disease_ontology DOID:2696 Leydig cell tumor Leydig cell neoplasm NCI2004_11_17:C3188 NCI:C8383 SNOMEDCT_US_2016_03_01:41627005 UMLS_CUI:C0334684 renal cell adenoma (morphologic abnormality) disease_ontology DOID:2697 renal adenoma renal cell adenoma (morphologic abnormality) SNOMEDCT_2005_07_31:41627005 NCI:C39812 SNOMEDCT_US_2016_03_01:128760004 UMLS_CUI:C1266141 Metanephric adenofibroma disease_ontology DOID:2698 nephrogenic adenofibroma Metanephric adenofibroma NCI2004_11_17:C39812 Metanephric adenofibroma SNOMEDCT_2005_07_31:128760004 Schneiderian papilloma disease_ontology DOID:2699 sinonasal papilloma true Schneiderian papilloma NCI2004_11_17:C4117 A sarcoma and malignant non-epithelial hepatic and intrahepatic bile duct neoplasm sthat is located_in the liver. NCI:C4437 SNOMEDCT_US_2016_03_01:254601002 UMLS_CUI:C0345906 hepatic sarcoma disease_ontology DOID:270 liver sarcoma A sarcoma and malignant non-epithelial hepatic and intrahepatic bile duct neoplasm sthat is located_in the liver. url:http://www.cancersupportivecare.com/liver.html hepatic sarcoma NCI2004_11_17:C4437 NCI:C8978 SNOMEDCT_US_2016_03_01:10705005 UMLS_CUI:C0334499 disease_ontology DOID:2700 mucinous adenofibroma DOID:2665 NCI:C3829 NCI:C6532 SNOMEDCT_US_2016_03_01:5178002 SNOMEDCT_US_2016_03_01:703702007 SNOMEDCT_US_2016_03_01:71508003 SNOMEDCT_US_2016_03_01:95413004 UMLS_CUI:C0221289 UMLS_CUI:C0588125 Synovioma, benign (morphologic abnormality) benign synovioma benign tumor of Synovium localized Giant cell tumor of Tenosynovium disease_ontology DOID:2701 nodular tenosynovitis Synovioma, benign (morphologic abnormality) SNOMEDCT_2005_07_31:5178002 benign tumor of Synovium NCI2004_11_17:C3829 localized Giant cell tumor of Tenosynovium NCI2004_11_17:C6532 ICD10CM:M12.2 MESH:D013586 NCI:C3401 SNOMEDCT_US_2016_03_01:202903009 SNOMEDCT_US_2016_03_01:703703002 SNOMEDCT_US_2016_03_01:71508003 SNOMEDCT_US_2016_03_01:95412009 UMLS_CUI:C0039106 Diffuse Giant cell tumor of Tenosynovium villous tenosynovitis disease_ontology DOID:2702 pigmented villonodular synovitis Diffuse Giant cell tumor of Tenosynovium NCI2004_11_17:C3401 villous tenosynovitis SNOMEDCT_2005_07_31:71508003 A connective tissue disease that results_in inflammation located_in synovial membrane that lines a synovial joint which causes pain and swelling. MESH:D013585 NCI:C50766 SNOMEDCT_US_2016_03_01:14107000 SNOMEDCT_US_2016_03_01:156666009 SNOMEDCT_US_2016_03_01:268092005 SNOMEDCT_US_2016_03_01:416209007 UMLS_CUI:C0039103 disease_ontology DOID:2703 synovitis A connective tissue disease that results_in inflammation located_in synovial membrane that lines a synovial joint which causes pain and swelling. sn:IEDB NCI:C6535 SNOMEDCT_US_2016_03_01:128778009 UMLS_CUI:C1266168 Giant cell tumour of tendon sheath, malignant malignant Giant cell neoplasm of the Tendon Sheath disease_ontology DOID:2704 malignant giant cell tumor of the tendon sheath Giant cell tumour of tendon sheath, malignant SNOMEDCT_2005_07_31:128778009 malignant Giant cell neoplasm of the Tendon Sheath NCI2004_11_17:C6535 NCI:C4090 SNOMEDCT_US_2016_03_01:83950009 UMLS_CUI:C0334229 malignant Giant cell neoplasm malignant tumor, giant cell type (morphologic abnormality) disease_ontology DOID:2705 malignant giant cell tumor malignant Giant cell neoplasm NCI2004_11_17:C4090 malignant tumor, giant cell type (morphologic abnormality) SNOMEDCT_2005_07_31:83950009 NCI:C6531 UMLS_CUI:C1334624 malignant tumor of Synovium disease_ontology DOID:2706 synovium cancer malignant tumor of Synovium NCI2004_11_17:C6531 An extrinsic allergic alveolitis involving inflammation of the alveoli within the lung caused by hypersensitivity to the inhalation of organic dust particles derived from either the mushrooms, their spores or the compost in which the mushrooms are grown. It is usually caused by the spores of thermophilic actinomycetes. ICD10CM:J67.5 ICD9CM:495.5 MESH:D005203 SNOMEDCT_US_2016_03_01:52333004 UMLS_CUI:C0155889 disease_ontology DOID:2708 mushroom workers' lung An extrinsic allergic alveolitis involving inflammation of the alveoli within the lung caused by hypersensitivity to the inhalation of organic dust particles derived from either the mushrooms, their spores or the compost in which the mushrooms are grown. It is usually caused by the spores of thermophilic actinomycetes. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC470139/pdf/thorax00134-0122.pdf NCI:C3869 SNOMEDCT_US_2016_03_01:235879002 SNOMEDCT_US_2016_03_01:93469006 UMLS_CUI:C0238246 Angioma of Liver hepatic angioma disease_ontology DOID:271 hemangioma of liver Angioma of Liver NCI2004_11_17:C3869 hepatic angioma SNOMEDCT_2005_07_31:235879002 An extrinsic allergic alveolitis that is characterized by a set of symptoms such as headache, fatigue, eye irritation, and breathing difficulties that affect workers in modern airtight office buildings. The disease is caused by indoor pollutants (as formaldehyde fumes, particulate matter, or microorganisms), and the symptoms tend to disappear when affected individuals leave the building. MESH:D018877 SNOMEDCT_US_2016_03_01:19076009 UMLS_CUI:C0037050 disease_ontology DOID:2710 sick building syndrome An extrinsic allergic alveolitis that is characterized by a set of symptoms such as headache, fatigue, eye irritation, and breathing difficulties that affect workers in modern airtight office buildings. The disease is caused by indoor pollutants (as formaldehyde fumes, particulate matter, or microorganisms), and the symptoms tend to disappear when affected individuals leave the building. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=sick%20building%20syndrome ICD10CM:N47.1 MESH:D010688 NCI:C26852 SNOMEDCT_US_2016_03_01:155921009 SNOMEDCT_US_2016_03_01:198005005 SNOMEDCT_US_2016_03_01:198006006 SNOMEDCT_US_2016_03_01:198007002 SNOMEDCT_US_2016_03_01:266571009 SNOMEDCT_US_2016_03_01:449826002 SNOMEDCT_US_2016_03_01:52743003 UMLS_CUI:C0031538 Tight foreskin Tight frenulum disease_ontology DOID:2712 phimosis Tight foreskin MTHICD9_2006:605 Tight frenulum SNOMEDCT_2005_07_31:198005005 An autosomal recessive disease characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability. MESH:D001816 NCI:C2903 OMIM:210900 ORDO:125 SNOMEDCT_US_2016_03_01:4434006 UMLS_CUI:C0005859 Bloom-Torre-Machacek syndrome Congenital Telangiectatic Erythema syndrome disease_ontology DOID:2717 OMIM mapping confirmed by DO. [SN]. Bloom syndrome An autosomal recessive disease characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability. url:http://ghr.nlm.nih.gov/condition/bloom-syndrome url:http://www.ncbi.nlm.nih.gov/pubmed/?term=10823897 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=9482582 url:https://en.wikipedia.org/wiki/Bloom_syndrome Bloom-Torre-Machacek syndrome CSP2005:1254-7913 Congenital Telangiectatic Erythema syndrome NCI2004_11_17:C2903 ICD10CM:J94.2 MESH:D006468 SNOMEDCT_US_2016_03_01:16632002 UMLS_CUI:C0019077 disease_ontology DOID:2718 hemopneumothorax A vascular disease that is located_in the liver. NCI:C35442 SNOMEDCT_US_2016_03_01:235878005 UMLS_CUI:C0400923 vascular disorder of liver (disorder) disease_ontology DOID:272 hepatic vascular disease A vascular disease that is located_in the liver. url:http://www.ncbi.nlm.nih.gov/pubmed/21055687 vascular disorder of liver (disorder) SNOMEDCT_2005_07_31:235878005 A dermatitis that selectively affects the hands and feet. CSP:4008-0032 MESH:D000169 NCI:C84532 SNOMEDCT_US_2016_03_01:8197001 UMLS_CUI:C0001197 disease_ontology DOID:2722 acrodermatitis A dermatitis that selectively affects the hands and feet. url:http://en.wikipedia.org/wiki/Acrodermatitis A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin. DOID:8614 DOID:8917 ICD10CM:L30.9 MESH:D003872 NCI:C2983 SNOMEDCT_US_2016_03_01:156358005 SNOMEDCT_US_2016_03_01:156388001 SNOMEDCT_US_2016_03_01:182782007 SNOMEDCT_US_2016_03_01:200884006 SNOMEDCT_US_2016_03_01:238538009 SNOMEDCT_US_2016_03_01:267847004 SNOMEDCT_US_2016_03_01:267856007 SNOMEDCT_US_2016_03_01:43116000 SNOMEDCT_US_2016_03_01:4979002 SNOMEDCT_US_2016_03_01:703938007 UMLS_CUI:C0011603 eczema skin inflammation disease_ontology DOID:2723 dermatitis A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin. url:http://en.wikipedia.org/wiki/Dermatitis url:http://www.nlm.nih.gov/medlineplus/eczema.html Cavernous naevus Naevus flammeus Port Wine type hemangioma disease_ontology DOID:2724 port-wine stain true Cavernous naevus SNOMEDCT_2005_07_31:189192007 Naevus flammeus SNOMEDCT_2005_07_31:205560007 Port Wine type hemangioma NCI2004_11_17:C3840 ICD10CM:Q82.5 MESH:D018324 NCI:C6645 SNOMEDCT_US_2016_03_01:205560007 SNOMEDCT_US_2016_03_01:254206003 SNOMEDCT_US_2016_03_01:402867006 SNOMEDCT_US_2016_03_01:56975005 SNOMEDCT_US_2016_03_01:83343001 UMLS_CUI:C0206733 Capillary hemangioma (disorder) Capillary hemangioma (morphologic abnormality) Congenital vascular hamartoma Congenital vascular naevus Infantile hemangioma Juvenile hemangioma Strawberry haemangioma Strawberry nevus Strawberry nevus of skin (disorder) cellular hemangioma of Infancy (Strawberry nevus) disease_ontology DOID:2725 capillary hemangioma Capillary hemangioma (disorder) SNOMEDCT_2005_07_31:402867006 Capillary hemangioma (morphologic abnormality) SNOMEDCT_2005_07_31:83343001 Congenital vascular hamartoma SNOMEDCT_2005_07_31:254206003 Congenital vascular naevus SNOMEDCT_2005_07_31:205560007 Infantile hemangioma NCI2004_11_17:C7459 Juvenile hemangioma NCI2004_11_17:C7458 Strawberry haemangioma SNOMEDCT_2005_07_31:157014007 Strawberry haemangioma SNOMEDCT_2005_07_31:254781005 Strawberry nevus MTHICD9_2006:757.32 Strawberry nevus of skin (disorder) SNOMEDCT_2005_07_31:56975005 cellular hemangioma of Infancy (Strawberry nevus) NCI2004_11_17:C7394 Pilosebaceous Nevoid disorder nevus comedonicus (disorder) disease_ontology DOID:2726 acne nevus true Pilosebaceous Nevoid disorder NCI2004_11_17:C3946 nevus comedonicus (disorder) SNOMEDCT_2005_07_31:35962006 disease_ontology DOID:2728 Pilosebaceous hamartoma true A skin disease characterized by cutaneous pigmentation, premature graying, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia, testicular atrophy in the male carriers and predisposition to cancer. MESH:D019871 NCI:C111802 OMIM:127550 OMIM:224230 OMIM:305000 OMIM:613987 OMIM:613988 OMIM:613989 OMIM:613990 OMIM:615190 ORDO:1775 SNOMEDCT_US_2016_03_01:74911008 UMLS_CUI:C0265965 disease_ontology DOID:2729 Xref MGI. OMIM mapping by NeuroDevNet. [LS]. dyskeratosis congenita A skin disease characterized by cutaneous pigmentation, premature graying, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia, testicular atrophy in the male carriers and predisposition to cancer. url:http://en.wikipedia.org/wiki/Dyskeratosis_congenita url:http://ghr.nlm.nih.gov/condition/dyskeratosis-congenita ICD10CM:Q81 ICD10CM:Q81.9 MESH:D004820 NCI:C67383 SNOMEDCT_US_2016_03_01:205580008 SNOMEDCT_US_2016_03_01:61003004 UMLS_CUI:C0014527 Epidermolysis bullosa Epidermolysis bullosa (disorder) acantholysis bullosa disease_ontology DOID:2730 epidermolysis bullosa Epidermolysis bullosa MTHICD9_2006:757.39 Epidermolysis bullosa SNOMEDCT_2005_07_31:205580008 Epidermolysis bullosa (disorder) SNOMEDCT_2005_07_31:61003004 acantholysis bullosa CSP2005:0726-9169 MESH:D012872 UMLS_CUI:C0037275 disease_ontology DOID:2731 vesiculobullous skin disease ICD10CM:Q82.8 MESH:D011038 NCI:C3335 OMIM:268400 SNOMEDCT_US_2016_03_01:205565002 SNOMEDCT_US_2016_03_01:205572001 SNOMEDCT_US_2016_03_01:69093006 UMLS_CUI:C0032339 Congenital poikiloderma RTS Rothmund-Thomson syndrome (disorder) disease_ontology DOID:2732 OMIM mapping confirmed by DO. [SN]. Rothmund-Thomson syndrome Congenital poikiloderma MTHICD9_2006:757.33 RTS NCI2004_11_17:C3335 Rothmund-Thomson syndrome (disorder) SNOMEDCT_2005_07_31:69093006 ICD10CM:L90 ICD10CM:L90.9 NCI:C35163 SNOMEDCT_US_2016_03_01:156391001 SNOMEDCT_US_2016_03_01:16343004 SNOMEDCT_US_2016_03_01:201090001 SNOMEDCT_US_2016_03_01:267857003 SNOMEDCT_US_2016_03_01:399979006 SNOMEDCT_US_2016_03_01:400190005 UMLS_CUI:C0151514 Atrophoderma Atrophy - skin atrophic condition of skin disease_ontology DOID:2733 skin atrophy Atrophoderma SNOMEDCT_2005_07_31:201090001 Atrophy - skin SNOMEDCT_2005_07_31:267857003 atrophic condition of skin SNOMEDCT_2005_07_31:400190005 ICD10CM:E50.8 MESH:D007644 NCI:C84665 OMIM:124200 SNOMEDCT_US_2016_03_01:157017000 SNOMEDCT_US_2016_03_01:205582000 SNOMEDCT_US_2016_03_01:240633005 SNOMEDCT_US_2016_03_01:268355000 SNOMEDCT_US_2016_03_01:48611009 UMLS_CUI:C0022595 DARIER-WHITE DISEASE Darier's disease Keratosis follicularis (disorder) disease_ontology DOID:2734 OMIM mapping confirmed by DO. [SN]. keratosis follicularis Darier's disease CSP2005:0726-9627 Darier's disease SNOMEDCT_2005_07_31:157017000 Darier's disease SNOMEDCT_2005_07_31:205582000 Darier's disease SNOMEDCT_2005_07_31:240633005 Darier's disease SNOMEDCT_2005_07_31:268355000 Keratosis follicularis (disorder) SNOMEDCT_2005_07_31:48611009 DOID:2735 MESH:D030981 MESH:D031845 NCI:C35545 NCI:C84745 OMIM:102500 SNOMEDCT_US_2016_03_01:27201004 SNOMEDCT_US_2016_03_01:63122002 UMLS_CUI:C0917715 UMLS_CUI:C0917990 disease_ontology DOID:2736 OMIM mapping confirmed by DO. [SN]. Hajdu-Cheney syndrome Hereditary benign intraepithelial dyskeratosis Hereditary benign intraepithelial dyskeratosis (disorder) disease_ontology DOID:2737 Witkop-Von Sallmann disease true Hereditary benign intraepithelial dyskeratosis MTH:NOCODE Hereditary benign intraepithelial dyskeratosis (disorder) SNOMEDCT_2005_07_31:400014002 Hereditary benign intraepithelial dyskeratosis (disorder) SNOMEDCT_2005_07_31:68897000 An autosomal recessive disease characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system. MESH:D011561 NCI:C85036 OMIM:177850 OMIM:264800 ORDO:758 SNOMEDCT_US_2016_03_01:157017000 SNOMEDCT_US_2016_03_01:205574000 SNOMEDCT_US_2016_03_01:239140003 SNOMEDCT_US_2016_03_01:252246005 SNOMEDCT_US_2016_03_01:268355000 SNOMEDCT_US_2016_03_01:7109007 UMLS_CUI:C0033847 Gronblad-Strandberg syndrome disease_ontology DOID:2738 Xref MGI. OMIM mapping confirmed by DO. [SN]. pseudoxanthoma elasticum An autosomal recessive disease characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system. url:http://en.wikipedia.org/wiki/Pseudoxanthoma_elasticum url:http://ghr.nlm.nih.gov/condition/pseudoxanthoma-elasticum url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/253/viewAbstract A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity. ICD10CM:E80.4 MESH:D005878 NCI:C84729 OMIM:143500 SNOMEDCT_US_2016_03_01:154770008 SNOMEDCT_US_2016_03_01:267509000 SNOMEDCT_US_2016_03_01:27503000 UMLS_CUI:C0017551 Constitutional hyperbilirubinemia Gilbert's disease Gilbert's syndrome Gilbert-Meulengracht syndrome hereditary nonhemolytic jaundice disease_ontology DOID:2739 OMIM mapping confirmed by DO. [SN]. Gilbert syndrome A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity. url:http://en.wikipedia.org/wiki/Gilbert%27s_syndrome Constitutional hyperbilirubinemia MTHICD9_2006:277.4 Gilbert's disease SNOMEDCT_2005_07_31:154770008 hereditary nonhemolytic jaundice CSP2005:1654-1020 An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism. DOID:2740 MESH:D006932 MESH:D006933 NCI:C84761 SNOMEDCT_US_2016_03_01:143932000 SNOMEDCT_US_2016_03_01:14783006 SNOMEDCT_US_2016_03_01:154770008 SNOMEDCT_US_2016_03_01:166612004 SNOMEDCT_US_2016_03_01:20505009 SNOMEDCT_US_2016_03_01:235904007 SNOMEDCT_US_2016_03_01:267509000 UMLS_CUI:C0020433 UMLS_CUI:C0020435 hereditary hyperbilirubinemia hyperbilirubinemia disease_ontology hyperbilirubinaemia DOID:2741 bilirubin metabolic disorder An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism. url:http://en.wikipedia.org/wiki/Hereditary_hyperbilirubinemia hereditary hyperbilirubinemia CSP2005:1654-1020 hyperbilirubinaemia SNOMEDCT_2005_07_31:154770008 DOID:1490 DOID:2011 ICD10CM:H93.9 ICD10CM:H93.90 ICD9CM:388.9 MESH:D004427 NCI:C26757 SNOMEDCT_US_2016_03_01:155253008 SNOMEDCT_US_2016_03_01:155261003 SNOMEDCT_US_2016_03_01:194193002 SNOMEDCT_US_2016_03_01:194410006 SNOMEDCT_US_2016_03_01:25906001 SNOMEDCT_US_2016_03_01:267768008 UMLS_CUI:C0013447 ear and mastoid disease disease_ontology DOID:2742 auditory system disease ICD10CM:N28.85 ICD9CM:590.3 SNOMEDCT_US_2016_03_01:155864003 SNOMEDCT_US_2016_03_01:197776002 SNOMEDCT_US_2016_03_01:266555009 SNOMEDCT_US_2016_03_01:37779008 UMLS_CUI:C0156254 disease_ontology DOID:2743 pyeloureteritis cystica ICD10CM:N12 MESH:D011702 NCI:C34964 SNOMEDCT_US_2016_03_01:197780007 SNOMEDCT_US_2016_03_01:27174002 UMLS_CUI:C0034183 disease_ontology DOID:2744 pyelitis A personality disorder that involves an excessive preoccupation with issues of personal adequacy, power, prestige and vanity. ICD10CM:F60.81 ICD9CM:301.81 MESH:D010554 NCI:C92635 SNOMEDCT_US_2016_03_01:192493008 SNOMEDCT_US_2016_03_01:80711002 UMLS_CUI:C0027402 disease_ontology DOID:2745 narcissistic personality disorder A personality disorder that involves an excessive preoccupation with issues of personal adequacy, power, prestige and vanity. url:http://en.wikipedia.org/wiki/Narcissistic_personality_disorder ICD10CM:E74.04 MESH:D006012 NCI:C84738 OMIM:232600 SNOMEDCT_US_2016_03_01:55912009 UMLS_CUI:C0017924 Glycogen storage disease, type V (disorder) McArdle's disease glycogen storage disease type V myophosphorylase deficiency disease_ontology DOID:2746 OMIM mapping confirmed by DO. [SN]. glycogen storage disease V Glycogen storage disease, type V (disorder) SNOMEDCT_2005_07_31:55912009 McArdle's disease MTHICD9_2006:271.0 myophosphorylase deficiency CSP2005:1849-4007 A glycogen metabolism disorder that has_material_basis_in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types. ICD10CM:E74.0 ICD10CM:E74.00 ICD9CM:271.0 MESH:D006008 NCI:C61272 SNOMEDCT_US_2016_03_01:154738008 SNOMEDCT_US_2016_03_01:190744005 SNOMEDCT_US_2016_03_01:267498002 SNOMEDCT_US_2016_03_01:29633007 UMLS_CUI:C0017919 glycogenosis glycogenoses disease_ontology DOID:2747 glycogen storage disease A glycogen metabolism disorder that has_material_basis_in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types. url:http://en.wikipedia.org/wiki/Glycogen#Disorders_of_glycogen_metabolism url:http://en.wikipedia.org/wiki/Glycogen_storage_disease url:http://www.slideshare.net/anjupaed/glcogen-storage-disorders glycogenosis CSP2005:4000-0193 ICD10CM:E74.03 MESH:D006010 NCI:C84736 OMIM:232400 SNOMEDCT_US_2016_03_01:124474000 SNOMEDCT_US_2016_03_01:66937008 UMLS_CUI:C0017922 Glycogen storage disease, type III (disorder) amylo 1,6 glucosidase deficiency deficiency of debranching enzyme deficiency of dextrin disease_ontology DOID:2748 OMIM mapping confirmed by DO. [SN]. glycogen storage disease III Glycogen storage disease, type III (disorder) SNOMEDCT_2005_07_31:66937008 amylo 1,6 glucosidase deficiency CSP2005:1849-3893 deficiency of debranching enzyme SNOMEDCT_2005_07_31:124474000 deficiency of dextrin SNOMEDCT_2005_07_31:124472001 A glycogen storage disease that has_material_basis_in deficiency of the glucose-6-phosphatase enzyme which impairs the ability of the liver to produce free glucose from glycogen and from gluconeogenesis and is characterized by accumulation of glycogen and fat in the liver and kidneys, resulting in hepatomegaly and renomegaly. ICD10CM:E74.01 MESH:D005953 NCI:C84733 OMIM:232200 OMIM:232220 OMIM:232240 SNOMEDCT_US_2016_03_01:124437004 SNOMEDCT_US_2016_03_01:154738008 SNOMEDCT_US_2016_03_01:267498002 SNOMEDCT_US_2016_03_01:7265005 UMLS_CUI:C0017920 Glycogen storage disease, type I (disorder) deficiency of glucose-6-phosphatase glycogen storage disease type I glycogenosis type I von Gierke disease von Gierke's disease disease_ontology DOID:2749 OMIM mapping confirmed by DO. [SN]. glycogen storage disease I A glycogen storage disease that has_material_basis_in deficiency of the glucose-6-phosphatase enzyme which impairs the ability of the liver to produce free glucose from glycogen and from gluconeogenesis and is characterized by accumulation of glycogen and fat in the liver and kidneys, resulting in hepatomegaly and renomegaly. url:http://en.wikipedia.org/wiki/Glycogen_storage_disease_type_I url:http://en.wikipedia.org/wiki/Von_Gierke%27s_disease url:http://www.ncbi.nlm.nih.gov/books/NBK1312/ Glycogen storage disease, type I (disorder) SNOMEDCT_2005_07_31:7265005 deficiency of glucose-6-phosphatase SNOMEDCT_2005_07_31:124437004 glycogenosis type I CSP2005:1849-3779 von Gierke disease SNOMEDCT_2005_07_31:267498002 von Gierke's disease MTHICD9_2006:271.0 NCI:C5481 UMLS_CUI:C1333770 hemangioma of stomach disease_ontology DOID:275 gastric hemangioma hemangioma of stomach NCI2004_11_17:C5481 ICD10CM:E74.09 MESH:D006011 NCI:C84737 OMIM:232500 SNOMEDCT_US_2016_03_01:11179002 SNOMEDCT_US_2016_03_01:124267007 SNOMEDCT_US_2016_03_01:190742009 UMLS_CUI:C0017923 Amylopectinosis Branching-transferase deficiency glycogenosis (disorder) Glycogen storage disease, type IV (disorder) brancher deficiency glycogenosis deficiency of 1,4-alpha-glucan branching enzyme disease_ontology DOID:2750 OMIM mapping confirmed by DO. [SN]. glycogen storage disease IV Amylopectinosis MTHICD9_2006:271.0 Branching-transferase deficiency glycogenosis (disorder) SNOMEDCT_2005_07_31:190742009 Glycogen storage disease, type IV (disorder) SNOMEDCT_2005_07_31:11179002 brancher deficiency glycogenosis CSP2005:1849-3950 deficiency of 1,4-alpha-glucan branching enzyme SNOMEDCT_2005_07_31:124267007 MESH:D006015 SNOMEDCT_US_2016_03_01:297255007 SNOMEDCT_US_2016_03_01:41527003 UMLS_CUI:C0017927 Glycogen storage disease type VIII (disorder) glycogen storage disease type VIII glycogenosis type VIII hepatic glycogen phosphorylase kinase deficiency (disorder) disease_ontology DOID:2751 glycogen storage disease VIII Glycogen storage disease type VIII (disorder) SNOMEDCT_2005_07_31:41527003 glycogenosis type VIII CSP2005:1849-4178 hepatic glycogen phosphorylase kinase deficiency (disorder) SNOMEDCT_2005_07_31:297255007 A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome. ICD10CM:E74.02 MESH:D006009 NCI:C84734 OMIM:232300 SNOMEDCT_US_2016_03_01:124454007 SNOMEDCT_US_2016_03_01:124462004 SNOMEDCT_US_2016_03_01:190741002 SNOMEDCT_US_2016_03_01:237967002 SNOMEDCT_US_2016_03_01:237968007 SNOMEDCT_US_2016_03_01:267424007 SNOMEDCT_US_2016_03_01:76219003 UMLS_CUI:C0017921 Generalized glycogenosis (disorder) Glycogen storage disease, type II (disorder) Glycogenosis, type 2 Lysosomal alpha-1,4-glucosidase deficiency (disorder) Pompe's disease acid maltase deficiency deficiency of glucoamylase deficiency of maltase glycogen storage disease type II disease_ontology DOID:2752 OMIM mapping confirmed by DO. [SN]. glycogen storage disease II A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome. url:http://en.wikipedia.org/wiki/Glycogen_storage_disease_type_II Generalized glycogenosis (disorder) SNOMEDCT_2005_07_31:267424007 Glycogen storage disease, type II (disorder) SNOMEDCT_2005_07_31:274864009 Glycogenosis, type 2 SNOMEDCT_2005_07_31:190741002 Lysosomal alpha-1,4-glucosidase deficiency (disorder) SNOMEDCT_2005_07_31:237967002 Pompe's disease SNOMEDCT_2005_07_31:237968007 acid maltase deficiency CSP2005:1849-3836 deficiency of glucoamylase SNOMEDCT_2005_07_31:124454007 deficiency of maltase SNOMEDCT_2005_07_31:124462004 disease_ontology DOID:2753 nervous system lysosomal storage disease true A glycogen storage disease characterized by enlargement of the liver, moderately low blood sugar, elevated levels of acetone and other ketone bodies in the blood and moderate growth retardation. ICD10CM:E74.09 MESH:D006013 OMIM:232700 ORDO:369 SNOMEDCT_US_2016_03_01:237971004 SNOMEDCT_US_2016_03_01:29291001 UMLS_CUI:C0017925 Hers' disease glycogen storage disease type VI hepatic glycogen phosphorylase deficiency (disorder) hepatophosphorylase deficiency glycogenosis disease_ontology DOID:2754 Xref MGI. glycogen storage disease VI A glycogen storage disease characterized by enlargement of the liver, moderately low blood sugar, elevated levels of acetone and other ketone bodies in the blood and moderate growth retardation. url:http://en.wikipedia.org/wiki/Glycogen_storage_disease_type_VI url:http://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-vi url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/401/viewAbstract hepatic glycogen phosphorylase deficiency (disorder) SNOMEDCT_2005_07_31:237971004 hepatophosphorylase deficiency glycogenosis CSP2005:1849-4064 A primary bacterial infectious disease that results_in infection, has_material_basis_in Mycobacterium avium complex (MAC), which is transmitted_by inhalation or transmitted_by ingestion of via the respiratory or gastrointestinal tract respectively. The bacteria cause disseminated infection in HIV infected people, while pulmonary disease in immunocompetent persons. MESH:D015270 NCI:C36197 SNOMEDCT_US_2016_03_01:14009004 SNOMEDCT_US_2016_03_01:373436002 UMLS_CUI:C0026916 Infection due to Mycobacterium intracellulare Infection due to Mycobacterium intracellulare (disorder) MAC disease Mycobacterium Avium Infection Mycobacterium avium Complex disease_ontology DOID:2755 Mycobacterium avium complex disease A primary bacterial infectious disease that results_in infection, has_material_basis_in Mycobacterium avium complex (MAC), which is transmitted_by inhalation or transmitted_by ingestion of via the respiratory or gastrointestinal tract respectively. The bacteria cause disseminated infection in HIV infected people, while pulmonary disease in immunocompetent persons. url:http://hivinsite.ucsf.edu/InSite?page=md-agl-mac url:http://www.cdc.gov/ncidod/dbmd/diseaseinfo/mycobacteriumavium_t.htm Infection due to Mycobacterium intracellulare SNOMEDCT_2005_07_31:14009004 Infection due to Mycobacterium intracellulare (disorder) SNOMEDCT_2005_07_31:373436002 Mycobacterium Avium Infection NCI2004_11_17:C36197 Mycobacterium avium Complex CSP2005:0322-0521 Infection due to Mycobacterium paratuberculosis (disorder) Johne's disease (disorder) disease_ontology DOID:2756 paratuberculosis true Infection due to Mycobacterium paratuberculosis (disorder) SNOMEDCT_2005_07_31:373578005 Johne's disease (disorder) SNOMEDCT_2005_07_31:12223006 Infection due to mycobacteria Mycobacterial Infection Mycobacterial disease Mycobacterial disease NOS (disorder) Mycobacterium infection, unspecified (disorder) Unspecified disease due to mycobacteria disease_ontology DOID:2757 Mycobacterium infectious disease true Infection due to mycobacteria SNOMEDCT_2005_07_31:88415009 Mycobacterial Infection NCI2004_11_17:C26831 Mycobacterial disease SNOMEDCT_2005_07_31:154298007 Mycobacterial disease SNOMEDCT_2005_07_31:266184007 Mycobacterial disease NOS (disorder) SNOMEDCT_2005_07_31:186345003 Mycobacterium infection, unspecified (disorder) SNOMEDCT_2005_07_31:187318007 Unspecified disease due to mycobacteria ICD9CM_2006:031.9 A bone cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. NCI:C36082 SNOMEDCT_US_2016_03_01:269568000 UMLS_CUI:C0700110 disease_ontology DOID:2762 bone carcinoma A bone cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma NCI:C6065 UMLS_CUI:C1333477 Epidermoid carcinoma of the ethmoidal sinus disease_ontology DOID:2763 ethmoid sinus squamous cell carcinoma Epidermoid carcinoma of the ethmoidal sinus NCI2004_11_17:C6065 NCI:C6238 UMLS_CUI:C1333473 adenoid cystic carcinoma of the ethmoid sinus disease_ontology adenoid cystic carcinoma of ethmoid sinus DOID:2764 ethmoid sinus adenoid cystic carcinoma adenoid cystic carcinoma of the ethmoid sinus NCI2004_11_17:C6238 An ethmoid sinus cancer that derives_from epithelial cells of glandular origin. NCI:C6237 UMLS_CUI:C1333472 adenocarcinoma of the ethmoid sinus disease_ontology adenocarcinoma of ethmoid sinus DOID:2766 ethmoid sinus adenocarcinoma An ethmoid sinus cancer that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma adenocarcinoma of the ethmoid sinus NCI2004_11_17:C6237 A tic disorder that consists of multiple motor and/or phonic tics with duration of at least 4 weeks, but less than 12 months. ICD10CM:F95.0 ICD9CM:307.21 MESH:D013981 NCI:C116767 SNOMEDCT_US_2016_03_01:192622000 SNOMEDCT_US_2016_03_01:56573006 UMLS_CUI:C0040702 disease_ontology DOID:2768 transient tic disorder A tic disorder that consists of multiple motor and/or phonic tics with duration of at least 4 weeks, but less than 12 months. url:http://en.wikipedia.org/wiki/Tic_disorder A specific developmental disorder that is characterized by the persistent presence of involuntary brief movements or sounds occuring intermittently and unpredictably out of a background of normal motor activity. ICD10CM:F95 ICD10CM:F95.9 ICD9CM:307.2 ICD9CM:307.20 MESH:D013981 SNOMEDCT_US_2016_03_01:112086008 SNOMEDCT_US_2016_03_01:155005001 SNOMEDCT_US_2016_03_01:191988002 SNOMEDCT_US_2016_03_01:191989005 SNOMEDCT_US_2016_03_01:191991002 SNOMEDCT_US_2016_03_01:192621007 SNOMEDCT_US_2016_03_01:192626002 SNOMEDCT_US_2016_03_01:35042001 SNOMEDCT_US_2016_03_01:386783003 SNOMEDCT_US_2016_03_01:393585001 SNOMEDCT_US_2016_03_01:568005 UMLS_CUI:C0040188 disease_ontology DOID:2769 tic disorder A specific developmental disorder that is characterized by the persistent presence of involuntary brief movements or sounds occuring intermittently and unpredictably out of a background of normal motor activity. url:http://www.minddisorders.com/Py-Z/Tic-disorders.html url:http://www.tsa-usa.org/Medical/definitions.html MESH:D006391 NCI:C4868 SNOMEDCT_US_2016_03_01:2099007 SNOMEDCT_US_2016_03_01:237268002 SNOMEDCT_US_2016_03_01:699948001 UMLS_CUI:C0677608 Placental hemangioma disease_ontology DOID:277 chorioangioma Placental hemangioma NCI2004_11_17:C4868 ICD10CM:L22 ICD9CM:691.0 MESH:D003963 NCI:C111886 SNOMEDCT_US_2015_03_01:238582000 SNOMEDCT_US_2015_03_01:91487003 UMLS_CUI:C0011974 Diaper or napkin erythema Diaper or napkin rash Diaper rash (disorder) Irritant contact dermatitis due to contact with urine and/or faeces Jacquet's dermatitis disease_ontology DOID:2770 diaper rash true Diaper or napkin erythema MTHICD9_2006:691.0 Diaper or napkin rash ICD9CM_2006:691.0 Diaper rash (disorder) SNOMEDCT_2005_07_31:91487003 Irritant contact dermatitis due to contact with urine and/or faeces SNOMEDCT_2005_07_31:402275006 Jacquet's dermatitis SNOMEDCT_2005_07_31:238582000 disease_ontology DOID:2771 atopic dermatitis and related conditions true ICD10CM:L24 ICD10CM:L24.9 MESH:D017453 NCI:C27151 SNOMEDCT_US_2016_03_01:110979008 SNOMEDCT_US_2016_03_01:200850007 UMLS_CUI:C0162823 Irritant Contact Dermatitis Irritant contact dermatitis primary irritant dermatitis (disorder) disease_ontology DOID:2772 irritant dermatitis Irritant Contact Dermatitis NCI2004_11_17:C27151 Irritant contact dermatitis SNOMEDCT_2005_07_31:200850007 primary irritant dermatitis (disorder) SNOMEDCT_2005_07_31:110979008 ICD10CM:L25 ICD10CM:L25.9 MESH:D003877 NCI:C26743 SNOMEDCT_US_2016_03_01:156338009 SNOMEDCT_US_2016_03_01:156348006 SNOMEDCT_US_2016_03_01:200780008 SNOMEDCT_US_2016_03_01:200883000 SNOMEDCT_US_2016_03_01:200889001 SNOMEDCT_US_2016_03_01:267842005 SNOMEDCT_US_2016_03_01:267846008 SNOMEDCT_US_2016_03_01:40275004 UMLS_CUI:C0011616 Contact dermatitis (disorder) Contact dermatitis NOS Contact dermatitis NOS (disorder) Contact dermatitis/eczema Contact eczema Dermatitis, venenata NOS dermatitis venenata disease_ontology DOID:2773 contact dermatitis Contact dermatitis (disorder) SNOMEDCT_2005_07_31:40275004 Contact dermatitis NOS SNOMEDCT_2005_07_31:156348006 Contact dermatitis NOS SNOMEDCT_2005_07_31:200889001 Contact dermatitis NOS SNOMEDCT_2005_07_31:267846008 Contact dermatitis NOS (disorder) SNOMEDCT_2005_07_31:200883000 Contact dermatitis/eczema SNOMEDCT_2005_07_31:156338009 Contact dermatitis/eczema SNOMEDCT_2005_07_31:267842005 Contact eczema SNOMEDCT_2005_07_31:200780008 Dermatitis, venenata NOS MTHICD9_2006:692.9 dermatitis venenata CSP2005:2716-6989 An adamantinoma that is located_in the long bones and results_in focal epithelial differentiation. MESH:C562741 OMIM:102660 SNOMEDCT_US_2016_03_01:189895006 SNOMEDCT_US_2016_03_01:307609003 SNOMEDCT_US_2016_03_01:56763007 UMLS_CUI:C0334556 adamantinoma of long bone (disorder) adamantinoma of long bones adamantinoma of long bones (morphologic abnormality) disease_ontology adamantinoma of long bone DOID:2775 OMIM mapping confirmed by DO. [SN]. long bone adamantinoma An adamantinoma that is located_in the long bones and results_in focal epithelial differentiation. url:http://www.pathconsultddx.com/pathCon/diagnosis?pii=S1559-8675%2806%2970057-2 adamantinoma of long bone (disorder) SNOMEDCT_2005_07_31:307609003 adamantinoma of long bones SNOMEDCT_2005_07_31:189895006 adamantinoma of long bones (morphologic abnormality) SNOMEDCT_2005_07_31:56763007 A bone cancer that is located_in almost exclusively in the long bones. MESH:D050398 NCI:C7644 UMLS_CUI:C1367554 disease_ontology DOID:2776 adamantinoma A bone cancer that is located_in almost exclusively in the long bones. url:http://emedicine.medscape.com/article/385977-overview malignant neoplasm of short bone of upper limb disease_ontology DOID:2777 malignant neoplasm of short bones of upper limb true malignant neoplasm of short bone of upper limb SNOMEDCT_2005_07_31:94004004 disease_ontology DOID:2778 tumors of body of uterus, with delivery true disease_ontology DOID:2779 tumors of body of uterus complicating pregnancy, childbirth, or the puerperium true NCI:C4877 SNOMEDCT_US_2016_03_01:126848003 UMLS_CUI:C0345873 Rectosigmoid tumor neoplasm of rectosigmoid junction (disorder) rectosigmoid neoplasm disease_ontology DOID:2780 rectosigmoid junction neoplasm Rectosigmoid tumor NCI2004_11_17:C4877 neoplasm of rectosigmoid junction (disorder) SNOMEDCT_2005_07_31:126848003 rectosigmoid neoplasm CSP2005:2010-1253 NCI:C7421 UMLS_CUI:C1327709 disease_ontology DOID:2781 rectosigmoid cancer ICD10CM:C19 ICD9CM:154.0 NCI:C7420 SNOMEDCT_US_2016_03_01:363414004 SNOMEDCT_US_2016_03_01:93980002 UMLS_CUI:C0153443 malignant Rectosigmoid tumor malignant neoplasm of rectosigmoid malignant neoplasm of rectosigmoid junction malignant tumor of rectosigmoid junction (disorder) disease_ontology DOID:2782 rectosigmoid junction cancer malignant Rectosigmoid tumor NCI2004_11_17:C7420 malignant neoplasm of rectosigmoid MTHICD9_2006:154.0 malignant neoplasm of rectosigmoid junction ICD9CM_2006:154.0 malignant tumor of rectosigmoid junction (disorder) SNOMEDCT_2005_07_31:363414004 A lung cancer that is located_in the lung and that arises from transformed cells of mesenchymal origin. NCI:C4860 UMLS_CUI:C0598790 pulmonary sarcoma disease_ontology DOID:2784 lung sarcoma A lung cancer that is located_in the lung and that arises from transformed cells of mesenchymal origin. url:http://www.asco.org/ASCOv2/Meetings/Abstracts?&vmview=abst_detail_view&confID=26&abstractID=4315 pulmonary sarcoma NCI2004_11_17:C4860 A cerebellar disease that is characterized by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle. ICD10CM:Q03.1 MESH:D003616 NCI:C75012 OMIM:220200 SNOMEDCT_US_2016_03_01:14447001 SNOMEDCT_US_2016_03_01:204063009 UMLS_CUI:C0010964 Atresia of foramina of Magendie and Luschka disease_ontology DOID:2785 OMIM mapping confirmed by DO. [SN]. Dandy-Walker syndrome A cerebellar disease that is characterized by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle. url:http://omim.org/entry/220200 url:https://en.wikipedia.org/wiki/Dandy-Walker_syndrome url:https://ghr.nlm.nih.gov/condition/dandy-walker-malformation Atresia of foramina of Magendie and Luschka MTHICD9_2006:742.3 MESH:D002526 SNOMEDCT_US_2016_03_01:155010002 SNOMEDCT_US_2016_03_01:192867005 SNOMEDCT_US_2016_03_01:223176004 SNOMEDCT_US_2016_03_01:224186005 SNOMEDCT_US_2016_03_01:267691001 SNOMEDCT_US_2016_03_01:307361005 SNOMEDCT_US_2016_03_01:49784007 UMLS_CUI:C0007760 disease_ontology DOID:2786 cerebellar disease An Alveolata infectious disease that involves infection caused by the members of the phylum Ciliophora, which are characterized by the presence of hair-like organelles called cilia. disease_ontology DOID:2788 Ciliophora infectious disease true An Alveolata infectious disease that involves infection caused by the members of the phylum Ciliophora, which are characterized by the presence of hair-like organelles called cilia. url:http://en.wikipedia.org/wiki/Ciliate A parasitic infectious disease that is caused by parasitic protozoa which are microorganisms classified as unicellular eukaryotes. DOID:0060003 DOID:10553 DOID:3734 DOID:3804 DOID:947 ICD10CM:B50-B64 ICD10CM:B64 MESH:D011528 NCI:C34953 SNOMEDCT_US_2016_03_01:187247003 SNOMEDCT_US_2016_03_01:187502000 SNOMEDCT_US_2016_03_01:187517001 SNOMEDCT_US_2016_03_01:240627001 SNOMEDCT_US_2016_03_01:367372008 SNOMEDCT_US_2016_03_01:89933001 SNOMEDCT_US_2016_03_01:95896000 UMLS_CUI:C0033740 mastigophora infectious disease sarcomastigophora infectious disease disease_ontology DOID:2789 parasitic protozoa infectious disease A parasitic infectious disease that is caused by parasitic protozoa which are microorganisms classified as unicellular eukaryotes. url:http://en.wikipedia.org/wiki/Protozoan url:http://en.wikipedia.org/wiki/Protozoan_infection A parasitic helminthiasis infectious disease that involves infection of the small intestine of humans, dogs and cats by the nematode Necator americanus causing abdominal pain, diarrhea, cramps, weight loss and anemia. Cutaneous larvae migrans in humans is characterized by skin ruptures and severe itching. DOID:13048 ICD10CM:B76.1 MESH:D009332 NCI:C34838 SNOMEDCT_US_2016_03_01:36667009 UMLS_CUI:C0027528 disease_ontology DOID:2790 necatoriasis A parasitic helminthiasis infectious disease that involves infection of the small intestine of humans, dogs and cats by the nematode Necator americanus causing abdominal pain, diarrhea, cramps, weight loss and anemia. Cutaneous larvae migrans in humans is characterized by skin ruptures and severe itching. url:http://en.wikipedia.org/wiki/Necator_americanus A Strongylida infectious disease that involves infection of the small intestine of mammals, cats and dogs by the parasitic nematodes of genus Ancylostoma, Necator and Uncinaria. DOID:10954 ancylostomiasis and necatoriasis disease_ontology DOID:2791 hookworm infectious disease true A Strongylida infectious disease that involves infection of the small intestine of mammals, cats and dogs by the parasitic nematodes of genus Ancylostoma, Necator and Uncinaria. url:http://en.wikipedia.org/wiki/Hookworm url:http://www.dpd.cdc.gov/dpdx/HTML/Hookworm.htm A pneumonia located_in the lung parenchyma of unknown cause. ICD10CM:J84.11 ICD10CM:J84.112 ICD10CM:J84.114 MESH:D011658 SNOMEDCT_US_2016_03_01:129459004 SNOMEDCT_US_2016_03_01:155624004 SNOMEDCT_US_2016_03_01:196123009 SNOMEDCT_US_2016_03_01:196125002 SNOMEDCT_US_2016_03_01:196126001 SNOMEDCT_US_2016_03_01:233721005 SNOMEDCT_US_2016_03_01:236302005 SNOMEDCT_US_2016_03_01:266410004 SNOMEDCT_US_2016_03_01:45157009 SNOMEDCT_US_2016_03_01:700250006 UMLS_CUI:C0085786 Diffuse idiopathic pulmonary fibrosis Idiopathic fibrosing alveolitis disease_ontology IPF DOID:2797 idiopathic interstitial pneumonia A pneumonia located_in the lung parenchyma of unknown cause. url:http://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh url:http://www.ncbi.nlm.nih.gov/pubmed/11790668 Diffuse idiopathic pulmonary fibrosis MTHICD9_2006:516.3 Idiopathic fibrosing alveolitis ICD9CM_2006:516.3 IPF CSP2005:4008-0052 A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults. MESH:D001989 NCI:C62580 SNOMEDCT_US_2016_03_01:40100001 UMLS_CUI:C0006272 Bronchiolitis exudativa Bronchiolitis fibrosa obliterans Obliterative bronchiolitis disease_ontology DOID:2799 bronchiolitis obliterans A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bronchiolitis%20obliterans Bronchiolitis exudativa SNOMEDCT_2005_07_31:52409006 Bronchiolitis fibrosa obliterans SNOMEDCT_2005_07_31:31886003 Obliterative bronchiolitis SNOMEDCT_2005_07_31:40100001 A disease of anatomical entity that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body. ICD10CM:E34.9 ICD9CM:259.9 MESH:D004700 NCI:C3009 SNOMEDCT_US_2016_03_01:118639003 SNOMEDCT_US_2016_03_01:127345001 SNOMEDCT_US_2016_03_01:154648001 SNOMEDCT_US_2016_03_01:154690007 SNOMEDCT_US_2016_03_01:154718007 SNOMEDCT_US_2016_03_01:190231001 SNOMEDCT_US_2016_03_01:190594008 SNOMEDCT_US_2016_03_01:267462005 SNOMEDCT_US_2016_03_01:267475005 SNOMEDCT_US_2016_03_01:267489000 SNOMEDCT_US_2016_03_01:362969004 SNOMEDCT_US_2016_03_01:67432001 UMLS_CUI:C0014130 disease_ontology DOID:28 endocrine system disease A disease of anatomical entity that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body. url:http://en.wikipedia.org/wiki/Endocrine_system tuberculosis of ear disease_ontology DOID:280 ear tuberculosis true A idiopathic interstitial pneumonia which develops suddenly and is severe. Initially, the lung shows edema, hyaline membranes, and interstitial acute inflammation. Later,it develops loose organizing fibrosis, mostly within alveolar septa and type II pneumocyte hyperplasia. Fever, cough, and difficulty breathing develop over 1 to 2 weeks, typically progressing to acute respiratory failure. ICD10CM:J84.114 ICD9CM:516.33 NCI:C35806 SNOMEDCT_US_2016_03_01:129459004 SNOMEDCT_US_2016_03_01:236302005 SNOMEDCT_US_2016_03_01:35037009 SNOMEDCT_US_2016_03_01:45157009 UMLS_CUI:C1279945 AIP Hamman-Rich disease Hamman-Rich syndrome Idiopathic pulmonary fibrosis, acute fatal form accelerated interstitial pneumonia acute interstitial pneumonitis disease_ontology DOID:2800 acute interstitial pneumonia A idiopathic interstitial pneumonia which develops suddenly and is severe. Initially, the lung shows edema, hyaline membranes, and interstitial acute inflammation. Later,it develops loose organizing fibrosis, mostly within alveolar septa and type II pneumocyte hyperplasia. Fever, cough, and difficulty breathing develop over 1 to 2 weeks, typically progressing to acute respiratory failure. url:http://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh url:http://www.ncbi.nlm.nih.gov/pubmed/11790668 AIP NCI2004_11_17:C35806 Idiopathic pulmonary fibrosis, acute fatal form SNOMEDCT_2005_07_31:236302005 acute interstitial pneumonitis SNOMEDCT_2005_07_31:35037009 An idiopathic interstitial pneumonia that occurs mainly in women, people who do not smoke, and people younger than 50 years with no known cause or risk factors. Lung biopsies may show predominantly interstitial inflammation or fibrosis or a combination of inflammation and fibrosis. A dry cough and shortness of breath develop over 6 to 18 months. Low-grade fever and a feeling of illness (malaise) may occur. NCI:C35717 SNOMEDCT_US_2016_03_01:129452008 UMLS_CUI:C1290344 NSIP disease_ontology DOID:2801 nonspecific interstitial pneumonia An idiopathic interstitial pneumonia that occurs mainly in women, people who do not smoke, and people younger than 50 years with no known cause or risk factors. Lung biopsies may show predominantly interstitial inflammation or fibrosis or a combination of inflammation and fibrosis. A dry cough and shortness of breath develop over 6 to 18 months. Low-grade fever and a feeling of illness (malaise) may occur. url:http://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh disease_ontology DOID:2809 primary Bartonellaceae infectious disease true A lung disease that is defined as a recurrent or chronic collapse of the right middle lobe, right upper lobe or lingula of the lung. It is caused by endobronchial tumour, granulomatous infections, lymphadenopathy, foreign bodies, endobronchial silicotic nodules, inspissated mucus associated with cystic fibrosis or inflammation as a result of an infection. MESH:D008878 SNOMEDCT_US_2016_03_01:28295001 UMLS_CUI:C0026069 disease_ontology DOID:2810 middle lobe syndrome A lung disease that is defined as a recurrent or chronic collapse of the right middle lobe, right upper lobe or lingula of the lung. It is caused by endobronchial tumour, granulomatous infections, lymphadenopathy, foreign bodies, endobronchial silicotic nodules, inspissated mucus associated with cystic fibrosis or inflammation as a result of an infection. url:http://www.thepcrj.org/journ/aop/pcrj-2008-09-0085.pdf ICD10CM:C72.4 NCI:C4539 SNOMEDCT_US_2016_03_01:188310002 SNOMEDCT_US_2016_03_01:254980001 SNOMEDCT_US_2016_03_01:93660000 UMLS_CUI:C0346331 malignant tumor of acoustic vestibular nerve (disorder) malignant tumor of the Vestibulocochlear nerve malignant tumour of acoustic vestibular nerve disease_ontology DOID:2814 malignant neoplasm of acoustic nerve malignant tumor of acoustic vestibular nerve (disorder) SNOMEDCT_2005_07_31:254980001 malignant tumor of the Vestibulocochlear nerve NCI2004_11_17:C4539 malignant tumour of acoustic vestibular nerve SNOMEDCT_2005_07_31:188310002 ICD10CM:C72.50 ICD9CM:192.0 MESH:D003390 NCI:C3571 SNOMEDCT_US_2016_03_01:188307009 SNOMEDCT_US_2016_03_01:188311003 SNOMEDCT_US_2016_03_01:93767009 UMLS_CUI:C0153644 malignant neoplasm of cranial nerve malignant neoplasm of cranial nerves malignant neoplasm of cranial nerves NOS (disorder) malignant tumor of cranial nerve (disorder) malignant tumor of the Cranial nerve disease_ontology DOID:2815 cranial nerve malignant neoplasm malignant neoplasm of cranial nerve SNOMEDCT_2005_07_31:93767009 malignant neoplasm of cranial nerves ICD9CM_2006:192.0 malignant neoplasm of cranial nerves NOS (disorder) SNOMEDCT_2005_07_31:188311003 malignant tumor of cranial nerve (disorder) SNOMEDCT_2005_07_31:188307009 malignant tumor of the Cranial nerve NCI2004_11_17:C3571 NCI:C6995 SNOMEDCT_US_2016_03_01:93929003 UMLS_CUI:C0686417 IIIrd Cranial nerve neoplasm, malignant primary malignant neoplasm of oculomotor nerve (disorder) disease_ontology DOID:2816 malignant oculomotor nerve tumor IIIrd Cranial nerve neoplasm, malignant NCI2004_11_17:C6995 primary malignant neoplasm of oculomotor nerve (disorder) SNOMEDCT_2005_07_31:93929003 NCI:C6994 SNOMEDCT_US_2016_03_01:126969002 UMLS_CUI:C1263895 Oculomotor nerve tumor neoplasm of oculomotor nerve (disorder) disease_ontology DOID:2817 cranial nerve III tumor Oculomotor nerve tumor NCI2004_11_17:C6994 neoplasm of oculomotor nerve (disorder) SNOMEDCT_2005_07_31:126969002 MESH:D009668 SNOMEDCT_US_2016_03_01:89488007 UMLS_CUI:C0028432 disorder of the nose (disorder) nasal disorder disease_ontology DOID:2825 nose disease disorder of the nose (disorder) SNOMEDCT_2005_07_31:89488007 nasal disorder CSP2005:1997-0936 DOID:2827 MESH:D042101 NCI:C35578 SNOMEDCT_US_2016_03_01:19968009 UMLS_CUI:C0267841 acute acalculous cholecystitis acute cholecystitis without calculus (disorder) cholecystitis without calculus (disorder) disease_ontology DOID:2828 acalculous cholecystitis acute cholecystitis without calculus (disorder) SNOMEDCT_2005_07_31:34346002 cholecystitis without calculus (disorder) SNOMEDCT_2005_07_31:19968009 Leukemic reticuloendotheliosis involving intra-abdominal lymph nodes Leukemic reticuloendotheliosis of intra-abdominal lymph nodes (disorder) Leukemic reticuloendotheliosis of intra-abdominal lymph nodes [dup] (disorder) disease_ontology DOID:283 leukemic reticuloendotheliosis of intra-abdominal lymph nodes true Leukemic reticuloendotheliosis involving intra-abdominal lymph nodes ICD9CM_2006:202.43 Leukemic reticuloendotheliosis of intra-abdominal lymph nodes (disorder) SNOMEDCT_2005_07_31:93144003 Leukemic reticuloendotheliosis of intra-abdominal lymph nodes [dup] (disorder) SNOMEDCT_2005_07_31:188647005 An opportunistic mycosis that has_material_basis_in Galactomyces geotrichum, results_in systemic infection in immunocompromised people. ICD10CM:B48.3 MESH:D005847 SNOMEDCT_US_2016_03_01:13969006 SNOMEDCT_US_2016_03_01:187105008 UMLS_CUI:C0017455 Geotrichosis (disorder) disease_ontology DOID:2832 geotrichosis An opportunistic mycosis that has_material_basis_in Galactomyces geotrichum, results_in systemic infection in immunocompromised people. url:http://medind.nic.in/iav/t03/i2/iavt03i2p72.pdf url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Hyphomycetes_%28hyaline%29/Geotrichum/ Geotrichosis (disorder) SNOMEDCT_2005_07_31:13969006 NCI:C27310 UMLS_CUI:C0856815 disease_ontology DOID:2833 dehydration polycythemia ICD10CM:D75.1 ICD9CM:289.0 NCI:C27178 SNOMEDCT_US_2016_03_01:154835002 SNOMEDCT_US_2016_03_01:191374009 SNOMEDCT_US_2016_03_01:44865000 UMLS_CUI:C1318533 Polycythemia, secondary secondary Polycythemia secondary polycythemia secondary polycythemia (disorder) secondary polycythemia NOS (disorder) disease_ontology DOID:2834 acquired polycythemia Polycythemia, secondary ICD9CM_2006:289.0 secondary Polycythemia NCI2004_11_17:C27178 secondary polycythemia SNOMEDCT_2005_07_31:154835002 secondary polycythemia (disorder) SNOMEDCT_2005_07_31:44865000 secondary polycythemia NOS (disorder) SNOMEDCT_2005_07_31:191374009 NCI:C27312 UMLS_CUI:C0856818 disease_ontology DOID:2835 polycythemia due to hypoxia ICD10CM:D75.1 NCI:C27174 SNOMEDCT_US_2016_03_01:191371001 SNOMEDCT_US_2016_03_01:36874002 UMLS_CUI:C0541719 Gaisbock's syndrome Gaisbock's syndrome (disorder) Polycythemia, emotional Stress Polycythemia Stress polycythemia (disorder) Stress polycythemia [dup] (disorder) disease_ontology DOID:2838 stress polycythemia Gaisbock's syndrome SNOMEDCT_2005_07_31:35326002 Gaisbock's syndrome (disorder) SNOMEDCT_2005_07_31:48250002 Polycythemia, emotional MTHICD9_2006:289.0 Stress Polycythemia NCI2004_11_17:C27174 Stress polycythemia (disorder) SNOMEDCT_2005_07_31:36874002 Stress polycythemia [dup] (disorder) SNOMEDCT_2005_07_31:191371001 ICD10CM:D75.1 NCI:C35434 SNOMEDCT_US_2016_03_01:367328005 SNOMEDCT_US_2016_03_01:43918003 UMLS_CUI:C0391869 Nephrogenous polycythemia Polycythaemia due to Excess Erythropoetin Production Polycythemia due to excess erythopoetin production Polycythemia, nephrogenous secondary polycythemia with excess erythropoietin (disorder) disease_ontology DOID:2839 erythropoietin polycythemia Nephrogenous polycythemia SNOMEDCT_2005_07_31:43918003 Polycythaemia due to Excess Erythropoetin Production NCI2004_11_17:C35434 Polycythemia due to excess erythopoetin production MTH:NOCODE Polycythemia, nephrogenous MTHICD9_2006:289.0 secondary polycythemia with excess erythropoietin (disorder) SNOMEDCT_2005_07_31:367328005 malignant tumor of abdomen (disorder) disease_ontology DOID:284 malignant neoplasm of abdomen true malignant tumor of abdomen (disorder) SNOMEDCT_2005_07_31:188366002 A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, exercise, stress, reflux disease, medications, foods and emotional anxiety. DOID:12703 DOID:13829 DOID:13830 DOID:2840 DOID:5783 EFO:0000270 ICD10CM:J45 ICD10CM:J45.90 ICD10CM:J45.909 ICD9CM:493 ICD9CM:493.9 KEGG:05310 MESH:D001249 NCI:C28397 OMIM:600807 SNOMEDCT_US_2016_03_01:155574008 SNOMEDCT_US_2016_03_01:155579003 SNOMEDCT_US_2016_03_01:187687003 SNOMEDCT_US_2016_03_01:195967001 SNOMEDCT_US_2016_03_01:195979001 SNOMEDCT_US_2016_03_01:195983001 SNOMEDCT_US_2016_03_01:21341004 SNOMEDCT_US_2016_03_01:266365004 SNOMEDCT_US_2016_03_01:266398009 SNOMEDCT_US_2016_03_01:278517007 UMLS_CUI:C0004096 Exercise induced asthma bronchial hyperreactivity chronic obstructive asthma chronic obstructive asthma with acute exacerbation chronic obstructive asthma with status asthmaticus exercise-induced asthma disease_ontology DOID:2841 Xref MGI. asthma A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, exercise, stress, reflux disease, medications, foods and emotional anxiety. url:http://www.aaaai.org/patients/topicofthemonth/0107/ url:http://www.nhlbi.nih.gov/health/dci/Diseases/Asthma/Asthma_WhatIs.html Exercise induced asthma SNOMEDCT_2005_07_31:195983001 MESH:D029593 NCI:C84793 OMIM:220400 OMIM:612347 SNOMEDCT_US_2016_03_01:373905003 SNOMEDCT_US_2016_03_01:49518001 UMLS_CUI:C0022387 Jervell and Lange-Nielson syndrome (disorder) disease_ontology DOID:2842 OMIM mapping confirmed by DO. [SN]. Jervell-Lange Nielsen syndrome Jervell and Lange-Nielson syndrome (disorder) SNOMEDCT_2005_07_31:373905003 An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (TDP, a form of irregular heartbeat that originates from the ventricles). DOID:4069 ICD10CM:I45.81 ICD9CM:426.82 MESH:D008133 MESH:D029597 NCI:C34786 NCI:C85049 ORDO:101016 ORDO:768 SNOMEDCT_US_2016_03_01:20852007 SNOMEDCT_US_2016_03_01:395649008 SNOMEDCT_US_2016_03_01:9651007 UMLS_CUI:C0023976 UMLS_CUI:C0035828 LQT Romano-Ward syndrome Romano-Ward syndrome (disorder) long Q-T syndrome disease_ontology DOID:2843 OMIM mapping confirmed by DO. [SN]. long QT syndrome An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (TDP, a form of irregular heartbeat that originates from the ventricles). url:http://en.wikipedia.org/wiki/Long_QT_syndrome LQT CSP2005:4009-0053 Romano-Ward syndrome (disorder) SNOMEDCT_2005_07_31:20852007 long Q-T syndrome SNOMEDCT_2005_07_31:395649008 A sleep disorder that involves involuntarily grinding or clenching of the teeth while sleeping. DOID:8891 ICD10CM:F45.8 ICD10CM:G47.63 ICD9CM:327.53 MESH:D002012 MESH:D020186 NCI:C73511 SNOMEDCT_US_2016_03_01:154925009 SNOMEDCT_US_2016_03_01:191983006 SNOMEDCT_US_2016_03_01:192436003 SNOMEDCT_US_2016_03_01:268774006 SNOMEDCT_US_2016_03_01:274950005 SNOMEDCT_US_2016_03_01:367105000 SNOMEDCT_US_2016_03_01:90207007 UMLS_CUI:C0006325 UMLS_CUI:C0393774 Bruxism - teeth grinding Grinding teeth Teeth grinding sleep related bruxism disease_ontology DOID:2846 bruxism A sleep disorder that involves involuntarily grinding or clenching of the teeth while sleeping. url:http://en.wikipedia.org/wiki/Bruxism Bruxism - teeth grinding SNOMEDCT_2005_07_31:268774006 Grinding teeth SNOMEDCT_2005_07_31:367105000 Teeth grinding MTHICD9_2006:306.8 MESH:D003866 NCI:C34812 SNOMEDCT_US_2016_03_01:35489007 UMLS_CUI:C0025193 disease_ontology DOID:2848 melancholia A chronic lymphocytic leukemia that is characterized by over production of B cells (lymphocytes) by the bone marrow where the B cells appear hairy under a microscope. ICD10CM:C91.4 ICD10CM:C91.40 ICD9CM:202.4 MESH:D007943 NCI:C7402 SNOMEDCT_US_2016_03_01:118613001 SNOMEDCT_US_2016_03_01:188644003 SNOMEDCT_US_2016_03_01:188653005 SNOMEDCT_US_2016_03_01:190066005 SNOMEDCT_US_2016_03_01:54087003 SNOMEDCT_US_2016_03_01:85228003 UMLS_CUI:C0023443 disease_ontology DOID:285 hairy cell leukemia Hypoplasia of thyroid (disorder) Hypoplasia of thyroid (disorder) [Ambiguous] Thyroid Atrophy Thyroid atrophy (disorder) disease_ontology DOID:2853 atrophy of thyroid true Hypoplasia of thyroid (disorder) SNOMEDCT_2005_07_31:367524008 Hypoplasia of thyroid (disorder) [Ambiguous] SNOMEDCT_2005_07_31:82482009 Thyroid Atrophy NCI2004_11_17:C26942 Thyroid atrophy (disorder) SNOMEDCT_2005_07_31:190309006 MESH:D006981 UMLS_CUI:C0020551 disease_ontology DOID:2855 hyperthyroxinemia ICD10CM:E07.81 ICD9CM:790.94 MESH:D005067 NCI:C113170 SNOMEDCT_US_2016_03_01:237542005 UMLS_CUI:C0015190 Euthyroid sick syndrome Sick-euthyroid syndrome (disorder) disease_ontology DOID:2856 euthyroid sick syndrome Euthyroid sick syndrome ICD9CM_2006:790.94 Sick-euthyroid syndrome (disorder) SNOMEDCT_2005_07_31:237542005 Thyroid gland abscess abscess of thyroid (disorder) disease_ontology DOID:2857 abscess of thyroid true Thyroid gland abscess NCI2004_11_17:C27115 abscess of thyroid (disorder) SNOMEDCT_2005_07_31:102452004 ICD10CM:D58.2 MESH:D006445 NCI:C34675 SNOMEDCT_US_2016_03_01:51053007 UMLS_CUI:C0019021 Hb-C disease Hemoglobin C disease (disorder) disease_ontology DOID:2859 hemoglobin C disease Hb-C disease MTHICD9_2006:282.7 Hemoglobin C disease (disorder) SNOMEDCT_2005_07_31:51053007 ICD10CM:D58.2 MESH:D006453 NCI:C3092 SNOMEDCT_US_2016_03_01:154794008 SNOMEDCT_US_2016_03_01:267556002 SNOMEDCT_US_2016_03_01:80141007 UMLS_CUI:C0019045 hemoglobinopathies disease_ontology DOID:2860 hemoglobinopathy MESH:D000746 OMIM:206300 OMIM:206400 OMIM:300908 OMIM:613470 ORDO:712 SNOMEDCT_US_2016_03_01:300389006 SNOMEDCT_US_2016_03_01:301317008 SNOMEDCT_US_2016_03_01:82775009 UMLS_CUI:C0002882 HNSHA hereditary nonspherocytic hemolytic anemia disease_ontology DOID:2861 Xref MGI. OMIM mapping by NeuroDevNet. [LS]. congenital nonspherocytic hemolytic anemia HNSHA SNOMEDCT_2005_07_31:300389006 hereditary nonspherocytic hemolytic anemia CSP2005:0427-1697 A carbohydrate metabolic disorder that is characterised by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH). MESH:D005955 NCI:C98933 SNOMEDCT_US_2016_03_01:124134002 SNOMEDCT_US_2016_03_01:154738008 SNOMEDCT_US_2016_03_01:267498002 SNOMEDCT_US_2016_03_01:62403005 UMLS_CUI:C2939465 Glucose-6-phosphate dehydrogenase deficiency deficiency of G-6PD disease_ontology DOID:2862 glucosephosphate dehydrogenase deficiency A carbohydrate metabolic disorder that is characterised by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH). url:http://en.wikipedia.org/wiki/Glucosephosphate_dehydrogenase_deficiency Glucose-6-phosphate dehydrogenase deficiency SNOMEDCT_2005_07_31:62403005 deficiency of G-6PD SNOMEDCT_2005_07_31:124134002 disease_ontology visual disorder DOID:287 vision disorder true visual disorder SNOMEDCT_2005_07_31:40031005 An endometrial carcinoma that derives_from epithelial cells of glandular origin. DOID:5827 DOID:6650 NCI:C6287 NCI:C6290 NCI:C7359 SNOMEDCT_US_2016_03_01:123845008 SNOMEDCT_US_2016_03_01:189649001 SNOMEDCT_US_2016_03_01:189652009 SNOMEDCT_US_2016_03_01:309245001 UMLS_CUI:C0279763 UMLS_CUI:C1153706 UMLS_CUI:C1336905 adenocarcinoma of endometrium (disorder) adenocarcinoma of the Endometrium adenocarcinoma of uterus (disorder) endometrial adenoacanthoma endometrial endometrioid adenocarcinoma endometrial endometrioid adenocarcinoma with squamous differentiation endometrioid adenoma or carcinoma NOS (morphologic abnormality) endometrioid adenomas and carcinomas (morphologic abnormality) endometrioid carcinoma of Endometrium disease_ontology DOID:2870 endometrial adenocarcinoma An endometrial carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma adenocarcinoma of endometrium (disorder) SNOMEDCT_2005_07_31:123845008 adenocarcinoma of the Endometrium NCI2004_11_17:C7359 adenocarcinoma of uterus (disorder) SNOMEDCT_2005_07_31:309245001 endometrial endometrioid adenocarcinoma with squamous differentiation NCI2004_11_17:C8027 endometrioid adenoma or carcinoma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189652009 endometrioid adenomas and carcinomas (morphologic abnormality) SNOMEDCT_2005_07_31:189649001 endometrioid carcinoma of Endometrium NCI2004_11_17:C6287 A endometrial cancer that is located_in the tissue lining the uterus. DOID:3000 MESH:D016889 MESH:D018269 NCI:C3769 NCI:C7558 SNOMEDCT_US_2016_03_01:154526001 SNOMEDCT_US_2016_03_01:254878006 SNOMEDCT_US_2016_03_01:269600001 SNOMEDCT_US_2016_03_01:30289006 SNOMEDCT_US_2016_03_01:93781006 UMLS_CUI:C0206687 UMLS_CUI:C0476089 carcinoma of the Endometrium endometrioid carcinoma endometrioid carcinoma of female Reproductive system disease_ontology DOID:2871 OMIM mapping confirmed by DO. [SN]. endometrial carcinoma A endometrial cancer that is located_in the tissue lining the uterus. url:http://www.cancer.gov/cancertopics/types/endometrial carcinoma of the Endometrium NCI2004_11_17:C7558 endometrioid carcinoma of female Reproductive system NCI2004_11_17:C3769 disease_ontology DOID:2873 metastatic tumor to the larynx true metastatic tumor to the neck disease_ontology DOID:2874 metastasis to the neck true metastatic tumor to the neck NCI2004_11_17:C8528 A laryngeal carcinoma that has_material_basis_in squamous cells. NCI:C4044 SNOMEDCT_US_2016_03_01:405822008 SNOMEDCT_US_2016_03_01:707358000 UMLS_CUI:C0280324 Epidermoid carcinoma of the Larynx squamous cell carcinoma of larynx (disorder) disease_ontology DOID:2876 laryngeal squamous cell carcinoma A laryngeal carcinoma that has_material_basis_in squamous cells. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma Epidermoid carcinoma of the Larynx NCI2004_11_17:C4044 squamous cell carcinoma of larynx (disorder) SNOMEDCT_2005_07_31:405822008 A larynx cancer that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm. NCI:C6020 UMLS_CUI:C1334377 sarcoma of larynx disease_ontology DOID:2877 larynx sarcoma A larynx cancer that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm. url:http://www.searchmedica.com/search.html?q=sarcoma%20of%20the%20larynx&c=pc&ss= sarcoma of larynx NCI2004_11_17:C6020 disease_ontology DOID:2878 throat carcinoma true ICD10CM:H18.45 ICD9CM:371.46 SNOMEDCT_US_2016_03_01:72620002 UMLS_CUI:C0155122 disease_ontology DOID:2879 nodular degeneration of cornea ICD10CM:N80.0 ICD9CM:617.0 MESH:D062788 NCI:C6996 OMIM:600458 SNOMEDCT_US_2016_03_01:155988000 SNOMEDCT_US_2016_03_01:198246007 SNOMEDCT_US_2016_03_01:198247003 SNOMEDCT_US_2016_03_01:198248008 SNOMEDCT_US_2016_03_01:198249000 SNOMEDCT_US_2016_03_01:237115002 SNOMEDCT_US_2016_03_01:76376003 UMLS_CUI:C0341858 Endometriosis interna Endometriosis of myometrium Endometriosis, myometrium uterine Adenomyosis disease_ontology DOID:288 OMIM mapping confirmed by DO. [SN]. endometriosis of uterus Endometriosis interna SNOMEDCT_2005_07_31:198247003 Endometriosis of myometrium SNOMEDCT_2005_07_31:198248008 Endometriosis, myometrium MTHICD9_2006:617.0 uterine Adenomyosis NCI2004_11_17:C6996 A viral infectious disease that results_in infection, located_in lungs or located_in kidney, has_material_basis_in Hantavirus, which is transmitted_by rodents. The infection has_symptom renal failure, has_symptom hemorrhagic manifestations, and has_symptom pulmonary edema. disease_ontology DOID:2880 Hantavirus infectious disease true A viral infectious disease that results_in infection, located_in lungs or located_in kidney, has_material_basis_in Hantavirus, which is transmitted_by rodents. The infection has_symptom renal failure, has_symptom hemorrhagic manifestations, and has_symptom pulmonary edema. url:http://en.wikipedia.org/wiki/Hantavirus_pulmonary_syndrome#Hantavirus_.28cardio-.29pulmonary_syndrome Cysts of iris, ciliary body and anterior chamber (disorder) Cysts of iris, ciliary body and anterior chamber NOS (disorder) Cysts of iris, ciliary body, and anterior chamber disease_ontology DOID:2882 Cysts of iris, ciliary body and anterior chamber true Cysts of iris, ciliary body and anterior chamber (disorder) SNOMEDCT_2005_07_31:267621005 Cysts of iris, ciliary body and anterior chamber NOS (disorder) SNOMEDCT_2005_07_31:193516007 Cysts of iris, ciliary body, and anterior chamber ICD9CM_2006:364.6 MESH:D011470 NCI:C4795 SNOMEDCT_US_2016_03_01:155906003 SNOMEDCT_US_2016_03_01:197957005 SNOMEDCT_US_2016_03_01:21173002 SNOMEDCT_US_2016_03_01:266569009 SNOMEDCT_US_2016_03_01:270536001 UMLS_CUI:C0520477 adenoma - prostate adenoma of prostate benign adenoma of prostate benign adenoma of prostate (disorder) prostate adenoma disease_ontology DOID:2883 prostatic adenoma adenoma - prostate SNOMEDCT_2005_07_31:155906003 adenoma - prostate SNOMEDCT_2005_07_31:270536001 adenoma of prostate MTHICD9_2006:600.2 benign adenoma of prostate SNOMEDCT_2005_07_31:197957005 benign adenoma of prostate SNOMEDCT_2005_07_31:266569009 benign adenoma of prostate (disorder) SNOMEDCT_2005_07_31:21173002 prostate adenoma NCI2004_11_17:C4795 DOID:2886 NCI:C5532 NCI:C7574 UMLS_CUI:C1332535 UMLS_CUI:C1335409 Phyllodes neoplasm of the prostate benign Phyllodes neoplasm of the prostate prostate phyllodes tumor disease_ontology DOID:2885 benign prostate phyllodes tumor Phyllodes neoplasm of the prostate NCI2004_11_17:C7574 benign Phyllodes neoplasm of the prostate NCI2004_11_17:C5532 NCI:C5544 UMLS_CUI:C1335510 Prostatic leiomyoma disease_ontology DOID:2887 prostate leiomyoma Prostatic leiomyoma NCI2004_11_17:C5544 MESH:D012181 UMLS_CUI:C0035352 disease_ontology DOID:2889 retrocochlear disease A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body. EFO:0001065 ICD10CM:N80 ICD10CM:N80.9 ICD9CM:617 ICD9CM:617.9 MESH:D004715 NCI:C3014 SNOMEDCT_US_2016_03_01:103677003 SNOMEDCT_US_2016_03_01:11871002 SNOMEDCT_US_2016_03_01:129103003 SNOMEDCT_US_2016_03_01:155988000 SNOMEDCT_US_2016_03_01:198246007 SNOMEDCT_US_2016_03_01:198259004 SNOMEDCT_US_2016_03_01:266588002 SNOMEDCT_US_2016_03_01:396224008 UMLS_CUI:C0014175 disease_ontology DOID:289 endometriosis A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=20574791 url:https://en.wikipedia.org/?title=Endometriosis disease_ontology DOID:2890 primary Klebsiella infectious disease true MESH:D013964 NCI:C3502 SNOMEDCT_US_2016_03_01:154623004 SNOMEDCT_US_2016_03_01:189174004 SNOMEDCT_US_2016_03_01:255033000 SNOMEDCT_US_2016_03_01:255034006 SNOMEDCT_US_2016_03_01:269644003 UMLS_CUI:C0151468 adenoma of thyroid gland disease_ontology DOID:2891 thyroid adenoma adenoma of thyroid gland SNOMEDCT_2005_07_31:189174004 NCI:C7453 SNOMEDCT_US_2016_03_01:372100004 UMLS_CUI:C1299238 carcinoma of exocervix carcinoma of the Exocervix disease_ontology DOID:2892 exocervical carcinoma carcinoma of exocervix SNOMEDCT_2005_07_31:372100004 carcinoma of the Exocervix NCI2004_11_17:C7453 A cervical cancer that is located_in the cervix uteri or located_in the cervical area and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. NCI:C9039 SNOMEDCT_US_2016_03_01:154522004 SNOMEDCT_US_2016_03_01:154525002 SNOMEDCT_US_2016_03_01:188174005 SNOMEDCT_US_2016_03_01:269596006 SNOMEDCT_US_2016_03_01:269599004 SNOMEDCT_US_2016_03_01:285432005 SNOMEDCT_US_2016_03_01:93752005 UMLS_CUI:C0302592 cancer of cervix carcinoma OF CERVIX carcinoma cervix uteri carcinoma of cervix (disorder) carcinoma of the Cervix Uteri disease_ontology DOID:2893 OMIM mapping confirmed by DO. [SN]. cervix carcinoma A cervical cancer that is located_in the cervix uteri or located_in the cervical area and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Cervical_cancer cancer of cervix SNOMEDCT_2005_07_31:93752005 carcinoma OF CERVIX MTH:166 carcinoma cervix uteri SNOMEDCT_2005_07_31:269596006 carcinoma of cervix (disorder) SNOMEDCT_2005_07_31:285432005 carcinoma of the Cervix Uteri NCI2004_11_17:C9039 Streptococcal infection, unspecified (disorder) Streptococcal infectious disease (disorder) Streptococcus infection disease_ontology DOID:2898 commensal streptococcal infectious disease true Streptococcal infection, unspecified (disorder) SNOMEDCT_2005_07_31:187343001 Streptococcal infectious disease (disorder) SNOMEDCT_2005_07_31:85769006 Streptococcus infection CSP2005:0368-3452 E Coli Infection Escherichia coli infection Infection due to Escherichia coli (disorder) disease_ontology DOID:2905 commensal Escherichia coli infectious disease true E Coli Infection NCI2004_11_17:C34594 Escherichia coli infection CSP2005:0368-2714 Infection due to Escherichia coli (disorder) SNOMEDCT_2005_07_31:71057007 A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Rhabditida, characterized by oral aperture with 2, 3 or 6 lips. disease_ontology DOID:2906 Rhabditida infectious disease true A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Rhabditida, characterized by oral aperture with 2, 3 or 6 lips. url:http://en.wikipedia.org/wiki/Rhabditida A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch. ICD10CM:Q87.0 MESH:D006053 NCI:C84740 OMIM:164210 ORDO:374 SNOMEDCT_US_2016_03_01:109393007 SNOMEDCT_US_2016_03_01:15557005 SNOMEDCT_US_2016_03_01:205418005 SNOMEDCT_US_2016_03_01:254025006 SNOMEDCT_US_2016_03_01:254026007 SNOMEDCT_US_2016_03_01:367462009 SNOMEDCT_US_2016_03_01:46567003 UMLS_CUI:C0265240 Facio-auriculo-vertebral spectrum (disorder) First AND second branchial arch syndrome First arch syndrome (disorder) HEMIFACIAL MICROSOMIA OAV (oculoauriculovertebral) dysplasia Otomandibular dysostosis (disorder) disease_ontology DOID:2907 OMIM mapping confirmed by DO. [SN]. Goldenhar syndrome A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch. url:http://en.wikipedia.org/wiki/Goldenhar_syndrome url:http://www.faces-cranio.org/Disord/Golden.htm url:http://www.healthline.com/galecontent/goldenhar-syndrome Facio-auriculo-vertebral spectrum (disorder) SNOMEDCT_2005_07_31:367462009 First AND second branchial arch syndrome SNOMEDCT_2005_07_31:254025006 First arch syndrome (disorder) SNOMEDCT_2005_07_31:15557005 OAV (oculoauriculovertebral) dysplasia CSP2005:0725-7823 Otomandibular dysostosis (disorder) SNOMEDCT_2005_07_31:109393007 ICD10CM:Q75.4 MESH:D008342 NCI:C75018 OMIM:154500 OMIM:248390 OMIM:613717 SNOMEDCT_US_2016_03_01:205416009 SNOMEDCT_US_2016_03_01:205804007 SNOMEDCT_US_2016_03_01:82203000 UMLS_CUI:C0242387 (Mandibulofacial dysostosis) or (Franceschetti syndrome) mandibulofacial dysostosis disease_ontology DOID:2908 OMIM mapping confirmed by DO. [SN]. Treacher Collins syndrome (Mandibulofacial dysostosis) or (Franceschetti syndrome) SNOMEDCT_2005_07_31:205416009 Septic abortion (disorder) abortion with sepsis disease_ontology DOID:2910 septic abortion true Septic abortion (disorder) SNOMEDCT_2005_07_31:8272009 abortion with sepsis SNOMEDCT_2005_07_31:30260009 DOID:2912 ICD10CM:K85 ICD10CM:K85.9 ICD9CM:577.0 NCI:C95437 SNOMEDCT_US_2016_03_01:155834006 SNOMEDCT_US_2016_03_01:197456007 SNOMEDCT_US_2016_03_01:197457003 SNOMEDCT_US_2016_03_01:197461009 SNOMEDCT_US_2016_03_01:266476001 SNOMEDCT_US_2016_03_01:39726008 UMLS_CUI:C0001339 PANCREATITIS NECROTIZING acute necrotizing pancreatitis acute necrotizing pancreatitis (disorder) acute pancreatitis (disorder) acute pancreatitis (disorder) [Ambiguous] acute pancreatitis NOS acute pancreatitis NOS (disorder) acute pancreatitis unspecified (disorder) disease_ontology DOID:2913 acute pancreatitis PANCREATITIS NECROTIZING MTH:NOCODE acute necrotizing pancreatitis (disorder) SNOMEDCT_2005_07_31:7881005 acute pancreatitis (disorder) SNOMEDCT_2005_07_31:197456007 acute pancreatitis (disorder) [Ambiguous] SNOMEDCT_2005_07_31:39726008 acute pancreatitis NOS SNOMEDCT_2005_07_31:197461009 acute pancreatitis NOS (disorder) SNOMEDCT_2005_07_31:266476001 acute pancreatitis unspecified (disorder) SNOMEDCT_2005_07_31:197457003 A disease of anatomical entity that is located_in the immune system. EFO:0000540 ICD10CM:D89.9 ICD9CM:279 ICD9CM:279.9 SNOMEDCT_US_2016_03_01:154782004 SNOMEDCT_US_2016_03_01:191015009 SNOMEDCT_US_2016_03_01:191019003 SNOMEDCT_US_2016_03_01:191035005 UMLS_CUI:C0041806 disease_ontology DOID:2914 immune system disease A disease of anatomical entity that is located_in the immune system. url:http://en.wikipedia.org/wiki/Immune_system ICD10CM:C88.9 MESH:D007160 SNOMEDCT_US_2016_03_01:127071007 SNOMEDCT_US_2016_03_01:134363002 SNOMEDCT_US_2016_03_01:86295000 UMLS_CUI:C0021070 disease_ontology immunoproliferative disease DOID:2916 hypersensitivity reaction type IV disease A hypersensitivity reaction type IV disease that involves large amounts of cryoglobulins in the blood which become thick or gel-like in cold temperatures. ICD10CM:D89.1 MESH:D003449 NCI:C26736 SNOMEDCT_US_2016_03_01:30911005 UMLS_CUI:C0010403 CRYOGLOBULINEMIA Cryoimmunoglobulinaemia disease_ontology DOID:2917 cryoglobulinemia A hypersensitivity reaction type IV disease that involves large amounts of cryoglobulins in the blood which become thick or gel-like in cold temperatures. ls:IEDB url:http://en.wikipedia.org/wiki/Cryoglobulinemia url:http://www.nlm.nih.gov/medlineplus/ency/article/000540.htm CRYOGLOBULINEMIA MTH:NOCODE Cryoimmunoglobulinaemia SNOMEDCT_2005_07_31:30911005 A hypersensitivity reaction type IV disease that results from the presence of excessive amounts of a single monoclonal gammaglobulin in the blood. Paraproteinaemia Paraproteinemia Paraproteinemia (disorder) Paraproteinemia NOS (disorder) paraproteinemia disease_ontology DOID:2918 paraproteinemia true A hypersensitivity reaction type IV disease that results from the presence of excessive amounts of a single monoclonal gammaglobulin in the blood. url:http://en.wikipedia.org/wiki/Paraproteinemia Paraproteinaemia SNOMEDCT_2005_07_31:35601003 Paraproteinemia NCI2004_11_17:C27468 Paraproteinemia SNOMEDCT_2005_07_31:123061006 Paraproteinemia (disorder) SNOMEDCT_2005_07_31:278501001 Paraproteinemia NOS (disorder) SNOMEDCT_2005_07_31:190816000 paraproteinemia CSP2005:0449-2705 NCI:C5102 SNOMEDCT_US_2016_03_01:416510003 UMLS_CUI:C1334361 lacrimal system neoplasm neoplasm of lacrimal system (disorder) tumor of the lacrimal system disease_ontology DOID:292 lacrimal system cancer neoplasm of lacrimal system (disorder) SNOMEDCT_2005_07_31:416510003 tumor of the lacrimal system NCI2004_11_17:C5102 MESH:D015432 NCI:C34644 SNOMEDCT_US_2016_03_01:80321008 UMLS_CUI:C0017662 Lobular glomerulonephritis chronic glomerulonephritis, lobular disease_ontology DOID:2920 membranoproliferative glomerulonephritis Lobular glomerulonephritis SNOMEDCT_2005_07_31:80321008 chronic glomerulonephritis, lobular MTHICD9_2006:582.2 A nephritis that causes inflammation of the glomeruli located_in kidney. ICD10CM:N05 ICD10CM:N08 MESH:D005921 NCI:C26784 SNOMEDCT_US_2016_03_01:197648001 SNOMEDCT_US_2016_03_01:36171008 UMLS_CUI:C0017658 disease_ontology DOID:2921 glomerulonephritis A nephritis that causes inflammation of the glomeruli located_in kidney. sn:IEDB url:http://en.wikipedia.org/wiki/Glomerulonephritis A syndrome that is characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues. ICD10CM:Q87.2 MESH:D007715 NCI:C84801 OMIM:149000 SNOMEDCT_US_2016_03_01:59078009 UMLS_CUI:C0022739 Haemangiectatic hypertrophy Klippel-Trenaunay-Weber syndrome angioosteohypertrophy syndrome disease_ontology DOID:2926 OMIM mapping confirmed by DO. [SN]. Klippel-Trenaunay syndrome A syndrome that is characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues. url:http://en.wikipedia.org/wiki/Klippel%E2%80%93Tr%C3%A9naunay_syndrome url:http://omim.org/entry/149000 Haemangiectatic hypertrophy SNOMEDCT_2005_07_31:59078009 A viral infectious disease that results_in infection in birds and humans, has_material_basis_in Newcastle disease virus, which is transmitted_by contact with feces and urine of an infected bird, or transmitted_by fomites. The infection has_symptom conjunctivitis, has_symptom headache, and has_symptom lacrimation in humans, and has_symptom gasping, has_symptom coughing, has_symptom twisting of head and neck, has_symptom circling, has_symptom complete paralysis, has_symptom watery diarrhea, and has_symptom reduced egg production in birds. MESH:D009521 NCI:C34849 SNOMEDCT_US_2016_03_01:155162002 SNOMEDCT_US_2016_03_01:231859001 SNOMEDCT_US_2016_03_01:258300000 SNOMEDCT_US_2016_03_01:267734002 SNOMEDCT_US_2016_03_01:89366008 UMLS_CUI:C0027983 Newcastle's disease Pseudo-fowlpest disease_ontology DOID:2929 Newcastle disease A viral infectious disease that results_in infection in birds and humans, has_material_basis_in Newcastle disease virus, which is transmitted_by contact with feces and urine of an infected bird, or transmitted_by fomites. The infection has_symptom conjunctivitis, has_symptom headache, and has_symptom lacrimation in humans, and has_symptom gasping, has_symptom coughing, has_symptom twisting of head and neck, has_symptom circling, has_symptom complete paralysis, has_symptom watery diarrhea, and has_symptom reduced egg production in birds. url:http://en.wikipedia.org/wiki/Newcastle_disease url:http://www.daff.gov.au/animal-plant-health/pests-diseases-weeds/animal/newcastle url:http://www.inspection.gc.ca/english/sci/bio/anima/disemala/newcaste.shtml Newcastle's disease SNOMEDCT_2005_07_31:267734002 Pseudo-fowlpest SNOMEDCT_2005_07_31:231859001 NCI:C6129 UMLS_CUI:C1334358 carcinoma of the lacrimal gland disease_ontology DOID:293 lacrimal gland carcinoma carcinoma of the lacrimal gland NCI2004_11_17:C6129 A Paramyxoviridae infectious disease that results_in infection in birds and rarely humans, has_material_basis_in Avulavirus, which is transmitted_by direct contact with droppings and secretions from the nose, mouth, and eyes. disease_ontology DOID:2930 Avulavirus infectious disease true A Paramyxoviridae infectious disease that results_in infection in birds and rarely humans, has_material_basis_in Avulavirus, which is transmitted_by direct contact with droppings and secretions from the nose, mouth, and eyes. url:http://www.expasy.ch/viralzone/all_by_species/84.html A viral infectious disease that results_in inflammatory destruction located_in blood vessels of minks and rarely in humans, which has_material_basis_in Aleutian mink disease virus. The infection has_symptom weight loss, has_symptom hepatomegaly, has_symptom enlarged spleen, and has_symptom anemia. MESH:D000453 SNOMEDCT_US_2016_03_01:62251004 UMLS_CUI:C0002016 Aleutian disease disease_ontology DOID:2934 aleutian mink disease A viral infectious disease that results_in inflammatory destruction located_in blood vessels of minks and rarely in humans, which has_material_basis_in Aleutian mink disease virus. The infection has_symptom weight loss, has_symptom hepatomegaly, has_symptom enlarged spleen, and has_symptom anemia. url:http://en.wikipedia.org/wiki/Aleutian_Disease url:http://www.cdc.gov/eid/content/15/12/2040.htm Aleutian disease SNOMEDCT_2005_07_31:62251004 An autosomal recessive disease characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy; it is that has material basis in mutations in the CHS1 gene. ICD10CM:D72.0 ICD10CM:E70.330 MESH:D002609 NCI:C2941 OMIM:214500 ORDO:167 SNOMEDCT_US_2016_03_01:111396008 SNOMEDCT_US_2016_03_01:123309000 SNOMEDCT_US_2016_03_01:190696004 SNOMEDCT_US_2016_03_01:191356000 UMLS_CUI:C0007965 CHS Chediak - Steinbrinck anomaly disease_ontology DOID:2935 OMIM mapping confirmed by DO. [SN]. Chediak-Higashi syndrome An autosomal recessive disease characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy; it is that has material basis in mutations in the CHS1 gene. url:http://ghr.nlm.nih.gov/condition/chediak-higashi-syndrome url:http://www.ncbi.nlm.nih.gov/pubmed/?term=25129365 Chediak - Steinbrinck anomaly SNOMEDCT_2005_07_31:191356000 A ssDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Parvoviridae viruses. disease_ontology DOID:2936 Parvoviridae infectious disease true A ssDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Parvoviridae viruses. url:http://en.wikipedia.org/wiki/Parvoviridae A Herpesviridae infectious disease that results_in infection, has_material_basis_in Human herpesvirus 8. disease_ontology DOID:2937 Human herpesvirus 8 infectious disease true A Herpesviridae infectious disease that results_in infection, has_material_basis_in Human herpesvirus 8. url:http://www.abcam.com/index.html?pageconfig=resource&rid=11811&pid=11320 A viral infectious disease that results_in infection, has_material_basis_in Human herpesvirus 4, which is transmitted_by contact with the saliva. EBV Infection Epstein-Barr virus infection (disorder) disease_ontology Tumor Virus Infections DOID:2938 Epstein-Barr virus infectious disease true A viral infectious disease that results_in infection, has_material_basis_in Human herpesvirus 4, which is transmitted_by contact with the saliva. url:http://www.cdc.gov/ncidod/diseases/ebv.htm EBV Infection NCI2004_11_17:C38759 Epstein-Barr virus infection (disorder) SNOMEDCT_2005_07_31:402121009 A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Herpesviridae viruses. Herpesviridae disease Herpesvirus infection (disorder) disease_ontology DOID:2939 Herpesviridae infectious disease true A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Herpesviridae viruses. url:http://en.wikipedia.org/wiki/Herpesviridae Herpesviridae disease CSP2005:3099-9294 Herpesvirus infection (disorder) SNOMEDCT_2005_07_31:23513009 DOID:291 ICD9CM:190.2 NCI:C3563 NCI:C4360 SNOMEDCT_US_2016_03_01:127004000 SNOMEDCT_US_2016_03_01:188271007 SNOMEDCT_US_2016_03_01:188272000 SNOMEDCT_US_2016_03_01:93853008 UMLS_CUI:C0153627 UMLS_CUI:C0339124 malignant neoplasm of lacrimal gland malignant tumour of lacrimal gland neoplasm of lacrimal gland (disorder) tumor of the lacrimal gland disease_ontology DOID:294 lacrimal gland cancer malignant neoplasm of lacrimal gland SNOMEDCT_2005_07_31:93853008 malignant tumour of lacrimal gland SNOMEDCT_2005_07_31:188271007 neoplasm of lacrimal gland (disorder) SNOMEDCT_2005_07_31:127004000 tumor of the lacrimal gland NCI2004_11_17:C4360 A lung disease that is an inflammation of the bronchioles, the smallest air passages of the lungs. It is caused by viruses and bacteria. The disease has_symptom cough, has_symptom wheezing, has_symptom shortness of breath, has_symptom fever, has_symptom nasal flaring in infants and has_symptom bluish skin due to lack of oxygen. MESH:D001988 NCI:C39658 SNOMEDCT_US_2016_03_01:4120002 UMLS_CUI:C0006271 disease_ontology DOID:2942 bronchiolitis A lung disease that is an inflammation of the bronchioles, the smallest air passages of the lungs. It is caused by viruses and bacteria. The disease has_symptom cough, has_symptom wheezing, has_symptom shortness of breath, has_symptom fever, has_symptom nasal flaring in infants and has_symptom bluish skin due to lack of oxygen. url:http://en.wikipedia.org/wiki/Bronchiolitis A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Poxviridae viruses. Poxviridae disease disease due to unassigned Poxviridae (disorder) disease_ontology DOID:2943 Poxviridae infectious disease true A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Poxviridae viruses. url:http://en.wikipedia.org/wiki/Poxviridae Poxviridae disease CSP2005:3100-0734 disease due to unassigned Poxviridae (disorder) SNOMEDCT_2005_07_31:32790009 A viral infectious disease that results_in infection located_in respiratory tract, has_material_basis_in SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia. ICD10CM:J12.81 ICD9CM:079.82 MESH:D045169 NCI:C85064 SNOMEDCT_US_2016_03_01:398447004 UMLS_CUI:C1175175 SARS SARS-CoV infection disease_ontology DOID:2945 severe acute respiratory syndrome A viral infectious disease that results_in infection located_in respiratory tract, has_material_basis_in SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia. url:http://en.wikipedia.org/wiki/Severe_acute_respiratory_syndrome url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=SARS SARS CSP2005:5004-0074 SARS-CoV infection SNOMEDCT_2005_07_31:398447004 A Coronaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in coronaviruses, which are transmitted_by droplet spread of respiratory secretions or transmitted_by ingestion of contaminated food. disease_ontology DOID:2946 coronavirus infectious disease true A Coronaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in coronaviruses, which are transmitted_by droplet spread of respiratory secretions or transmitted_by ingestion of contaminated food. url:http://en.wikipedia.org/wiki/Coronavirus A Flavivirus infectious disease that results_in infection, has_material_basis_in Yellow fever virus, which is transmitted_by mosquito bites. The infection has_symptom fever, has_symptom severe headache, has_symptom back pain, has_symptom muscle ache, has_symptom nausea, and has_symptom weakness. disease_ontology DOID:2947 Yellow fever virus infectious disease true A Flavivirus infectious disease that results_in infection, has_material_basis_in Yellow fever virus, which is transmitted_by mosquito bites. The infection has_symptom fever, has_symptom severe headache, has_symptom back pain, has_symptom muscle ache, has_symptom nausea, and has_symptom weakness. url:http://www.cdc.gov/ncidod/dvbid/yellowfever/YF_Symptoms.html A Nidovirales infectious disease that results_in infection in animals and humans, has_material_basis_in Coronaviridae viruses, which is transmitted_by droplet spread of respiratory secretions or transmitted_by ingestion of contaminated food. disease_ontology DOID:2948 Coronaviridae infectious disease true A Nidovirales infectious disease that results_in infection in animals and humans, has_material_basis_in Coronaviridae viruses, which is transmitted_by droplet spread of respiratory secretions or transmitted_by ingestion of contaminated food. url:http://en.wikipedia.org/wiki/Coronaviridae A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Nidovirales viruses. disease_ontology DOID:2949 Nidovirales infectious disease true A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Nidovirales viruses. url:http://en.wikipedia.org/wiki/Nidovirales An ocular cancer that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells and arises_from the tissues that cover structures located_in the eye. NCI:C6079 UMLS_CUI:C0848866 Ocular carcinoma disease_ontology carcinoma of eye DOID:295 eye carcinoma An ocular cancer that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells and arises_from the tissues that cover structures located_in the eye. url:http://www.cancer.gov/dictionary/?CdrID=444991 Ocular carcinoma NCI2004_11_17:C6079 A Reoviridae infectious disease that results_in infection in vertebrates, has_material_basis_in Orbivirus, which is transmitted_by mosquitoes, transmitted_by midges, transmitted_by gnats, transmitted_by sandflies, and transmitted_by ticks. disease_ontology DOID:2950 Orbivirus infectious disease true A Reoviridae infectious disease that results_in infection in vertebrates, has_material_basis_in Orbivirus, which is transmitted_by mosquitoes, transmitted_by midges, transmitted_by gnats, transmitted_by sandflies, and transmitted_by ticks. url:http://en.wikipedia.org/wiki/Orbivirus ICD10CM:T75.3 ICD9CM:994.6 MESH:D009041 NCI:C34824 OMIM:158280 SNOMEDCT_US_2016_03_01:157749008 SNOMEDCT_US_2016_03_01:212973000 SNOMEDCT_US_2016_03_01:212974006 SNOMEDCT_US_2016_03_01:269278001 SNOMEDCT_US_2016_03_01:37031009 UMLS_CUI:C0026603 Travel Sickness disease_ontology DOID:2951 OMIM mapping confirmed by DO. [SN]. motion sickness Travel Sickness NCI2004_11_17:C34824 ICD10CM:H80-H83 ICD10CM:H83.9 ICD10CM:H83.90 MESH:D007759 NCI:C27166 SNOMEDCT_US_2016_03_01:194690003 SNOMEDCT_US_2016_03_01:20425006 SNOMEDCT_US_2016_03_01:232297009 SNOMEDCT_US_2016_03_01:267761002 SNOMEDCT_US_2016_03_01:267763004 SNOMEDCT_US_2016_03_01:286945007 UMLS_CUI:C0022890 UMLS_CUI:C0494559 labyrinthine disease disease_ontology DOID:2952 inner ear disease disease_ontology DOID:2956 intra-abdominal lymphangioma true A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis. ICD10CM:A15 ICD10CM:A15.0 ICD9CM:011 ICD9CM:011.9 ICD9CM:011.90 MESH:D014397 NCI:C26899 SNOMEDCT_US_2016_03_01:154283005 SNOMEDCT_US_2016_03_01:186180006 SNOMEDCT_US_2016_03_01:397190009 SNOMEDCT_US_2016_03_01:700272008 SNOMEDCT_US_2016_03_01:81483001 UMLS_CUI:C0041327 disease_ontology DOID:2957 pulmonary tuberculosis A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis. url:http://www.cdc.gov/tb/publications/factsheets/general/tb.htm url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=tuberculosis disease_ontology DOID:2958 environmental illness true NCI:C27579 UMLS_CUI:C1334069 disease_ontology DOID:2959 hyperimmunoglobulin syndrome NCI:C6804 SNOMEDCT_US_2016_03_01:254989000 UMLS_CUI:C0346342 carcinoma Ex Pleomorphic adenoma of the lacrimal gland carcinoma ex pleomorphic adenoma of lacrimal gland (disorder) malignant mixed neoplasm of lacrimal gland disease_ontology DOID:296 mixed lacrimal gland cancer carcinoma Ex Pleomorphic adenoma of the lacrimal gland NCI2004_11_17:C6804 carcinoma ex pleomorphic adenoma of lacrimal gland (disorder) SNOMEDCT_2005_07_31:254989000 malignant mixed neoplasm of lacrimal gland NCI2004_11_17:C6090 MESH:D054463 NCI:C4924 OMIM:601675 UMLS_CUI:C1955934 IBIDS syndrome Tay syndrome sulfur-deficient brittle hair syndrome trichothiodystrophy trichothiodystrophy with congenital ichthyosis disease_ontology DOID:2960 OMIM mapping confirmed by DO. [SN]. photosensitive trichothiodystrophy trichothiodystrophy NCI2004_11_17:C4924 A monogenic disease that results from a reduced functionality of DNA repair. DNA Repair disorder deficiency of DNA repair (finding) disease_ontology DOID:2961 DNA repair deficiency true A monogenic disease that results from a reduced functionality of DNA repair. url:http://en.wikipedia.org/wiki/DNA_repair-deficiency_disorder DNA Repair disorder NCI2004_11_17:C7757 deficiency of DNA repair (finding) SNOMEDCT_2005_07_31:28965003 An autosomal recessive disease that has material basis in rare mutations in two DNA excision repair proteins, ERCC-8 and ERCC-6, and characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging. ICD10CM:Q87.1 MESH:D003057 NCI:C9460 OMIM:133540 OMIM:216400 OMIM:216411 ORDO:191 ORDO:90321 ORDO:90322 ORDO:90324 SNOMEDCT_US_2016_03_01:205832003 SNOMEDCT_US_2016_03_01:21086008 UMLS_CUI:C0009207 Neill-Dingwall syndrome disease_ontology Cockayne's syndrome DOID:2962 Xref MGI. OMIM mapping confirmed by DO. [SN]. Cockayne syndrome An autosomal recessive disease that has material basis in rare mutations in two DNA excision repair proteins, ERCC-8 and ERCC-6, and characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging. url:http://en.wikipedia.org/wiki/Cockayne_syndrome url:http://en.wikipedia.org/wiki/ERCC6 url:http://en.wikipedia.org/wiki/ERCC8 url:http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=216411 Cockayne's syndrome CSP2005:0977-5812 ICD10CM:M77.9 MESH:D010489 SNOMEDCT_US_2016_03_01:156665008 SNOMEDCT_US_2016_03_01:202892006 SNOMEDCT_US_2016_03_01:268091003 SNOMEDCT_US_2016_03_01:50921008 UMLS_CUI:C0031037 disease_ontology DOID:2964 periarthritis ICD10CM:M71.9 MESH:D002062 NCI:C94407 SNOMEDCT_US_2016_03_01:156677003 SNOMEDCT_US_2016_03_01:156686008 SNOMEDCT_US_2016_03_01:202935009 SNOMEDCT_US_2016_03_01:268000007 SNOMEDCT_US_2016_03_01:84017003 UMLS_CUI:C0006444 disease_ontology DOID:2965 bursitis NCI:C4397 SNOMEDCT_US_2016_03_01:17264009 SNOMEDCT_US_2016_03_01:189811003 UMLS_CUI:C0344460 carcinoma ex pleomorphic adenoma (morphologic abnormality) carcinoma in pleomorphic adenoma disease_ontology DOID:297 pleomorphic adenoma carcinoma carcinoma ex pleomorphic adenoma (morphologic abnormality) SNOMEDCT_2005_07_31:17264009 carcinoma in pleomorphic adenoma SNOMEDCT_2005_07_31:189811003 ICD10CM:N28.0 MESH:D012078 UMLS_CUI:C0035066 disease_ontology DOID:2972 renal artery obstruction ICD10CM:N17.1 MESH:D007673 SNOMEDCT_US_2016_03_01:444691002 SNOMEDCT_US_2016_03_01:45456005 UMLS_CUI:C0022656 renal cortical necrosis disease_ontology DOID:2973 kidney cortex necrosis renal cortical necrosis SNOMEDCT_2005_07_31:45456005 Multicystic dysplastic kidney Multicystic kidney Multicystic kidney (disorder) disease_ontology DOID:2974 multicystic dysplastic kidney true Multicystic dysplastic kidney SNOMEDCT_2005_07_31:82525005 Multicystic kidney MTHICD9_2006:753.19 Multicystic kidney (disorder) SNOMEDCT_2005_07_31:204962002 MESH:D052177 UMLS_CUI:C0022679 KIDNEY CYST renal Cyst disease_ontology DOID:2975 cystic kidney disease KIDNEY CYST MTH:646 renal Cyst NCI2004_11_17:C3970 disease_ontology DOID:2976 glomerular vascular disorder true DOID:2979 ICD10CM:E72.53 MESH:D006959 MESH:D006960 NCI:C123158 OMIM:260000 OMIM:613616 SNOMEDCT_US_2016_03_01:17901006 SNOMEDCT_US_2016_03_01:190766003 SNOMEDCT_US_2016_03_01:367621000119107 UMLS_CUI:C0020500 UMLS_CUI:C0020501 disease_ontology DOID:2977 OMIM mapping confirmed by DO. [SN]. primary hyperoxaluria An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates. DOID:9434 ICD9CM:271.8 MESH:D002239 UMLS_CUI:C0007001 UMLS_CUI:C0029777 disorder of carbohydrate transport and metabolism inborn carbohydrate metabolism disorder inborn errors of carbohydrate metabolism disease_ontology DOID:2978 carbohydrate metabolic disorder An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates. url:http://en.wikipedia.org/wiki/Inborn_errors_of_carbohydrate_metabolism inborn carbohydrate metabolism disorder CSP2005:0551-8201 A lacrimal gland carcinoma that derives_from epithelial cells of glandular origin. NCI:C4541 SNOMEDCT_US_2016_03_01:254988008 UMLS_CUI:C0346341 disease_ontology adenocarcinoma of lacrimal gland DOID:298 lacrimal gland adenocarcinoma A lacrimal gland carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma disease_ontology DOID:2980 bone marrow tansplantation nephropathy true MESH:D007681 SNOMEDCT_US_2016_03_01:197651008 SNOMEDCT_US_2016_03_01:90241004 UMLS_CUI:C0022667 Necrotizing renal papillitis Papillary necrosis renal PAPILLITIS NECROTIZING disease_ontology DOID:2981 kidney papillary necrosis Necrotizing renal papillitis MTHICD9_2006:584.7 Papillary necrosis SNOMEDCT_2005_07_31:90241004 renal PAPILLITIS NECROTIZING MTH:NOCODE MESH:D010501 SNOMEDCT_US_2016_03_01:111404004 UMLS_CUI:C0031065 disease_ontology DOID:2982 perinephritis MESH:D001002 NCI:C114699 SNOMEDCT_US_2016_03_01:139460001 SNOMEDCT_US_2016_03_01:158479000 SNOMEDCT_US_2016_03_01:207182009 SNOMEDCT_US_2016_03_01:2472002 UMLS_CUI:C0003460 Suppression of urinary secretion disease_ontology DOID:2983 anuria Suppression of urinary secretion MTHICD9_2006:788.5 CAN chronic rejection of renal transplant (disorder) disease_ontology DOID:2985 chronic rejection of renal transplant true CAN NCI2004_11_17:C38145 chronic rejection of renal transplant (disorder) SNOMEDCT_2005_07_31:236578006 A glomerulonephritis characterized by build up of IgA antibody in the glomerulus. EFO:0004194 MESH:D005922 NCI:C34643 NCI:C35280 OMIM:161950 SNOMEDCT_US_2016_03_01:236407003 SNOMEDCT_US_2016_03_01:68779003 UMLS_CUI:C0017661 Berger's IgA or IgG nephropathy Focal Glomerulonephritis IGA glomerulonephritis IgA nephropathy primary IgA nephropathy segmental glomerulonephritis disease_ontology DOID:2986 OMIM mapping confirmed by DO. [SN]. IgA glomerulonephritis A glomerulonephritis characterized by build up of IgA antibody in the glomerulus. url:http://en.wikipedia.org/wiki/IgA_nephropathy url:http://www.nlm.nih.gov/medlineplus/ency/article/000466.htm Berger's IgA or IgG nephropathy SNOMEDCT_2005_07_31:197632002 Focal Glomerulonephritis NCI2004_11_17:C35280 IgA nephropathy CSP2005:4006-0049 primary IgA nephropathy SNOMEDCT_2005_07_31:68779003 segmental glomerulonephritis CSP2005:1681-9807 A hypersensitivity reaction type II disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has material basis in mutations in the MEFV gene, which encodes the protein pyrin. ICD10CM:E85.0 ICD9CM:277.31 MESH:D010505 NCI:C84707 OMIM:134610 OMIM:249100 ORDO:342 SNOMEDCT_US_2016_03_01:12579009 UMLS_CUI:C0031069 benign paroxysmal peritonitis disease_ontology DOID:2987 Xref MGI. OMIM mapping confirmed by DO. [SN]. familial Mediterranean fever A hypersensitivity reaction type II disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has material basis in mutations in the MEFV gene, which encodes the protein pyrin. url:http://en.wikipedia.org/wiki/Familial_Mediterranean_fever url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/127/viewAbstract benign paroxysmal peritonitis MTHICD9_2006:277.3 A hypersensitivity reaction type II disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies directed against membrane anionic phospholipids (anticardiolipin). ICD10CM:D68.61 MESH:D016736 NCI:C61283 OMIM:107320 SNOMEDCT_US_2016_03_01:19267009 SNOMEDCT_US_2016_03_01:201450008 SNOMEDCT_US_2016_03_01:26843008 UMLS_CUI:C0085278 Antiphospholipid syndrome Antiphospholipid syndrome (disorder) antiphospholipid antibody syndrome disease_ontology DOID:2988 OMIM mapping confirmed by DO. [SN]. antiphospholipid syndrome A hypersensitivity reaction type II disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies directed against membrane anionic phospholipids (anticardiolipin). ls:IEDB url:http://en.wikipedia.org/wiki/Antiphospholipid_syndrome Antiphospholipid syndrome SNOMEDCT_2005_07_31:19267009 Antiphospholipid syndrome SNOMEDCT_2005_07_31:201450008 Antiphospholipid syndrome (disorder) SNOMEDCT_2005_07_31:26843008 antiphospholipid antibody syndrome CSP2005:5002-0009 Prostatic Atypical small acinar Proliferation disease_ontology DOID:2989 Atypical small acinar proliferation of the prostate gland true Prostatic Atypical small acinar Proliferation NCI2004_11_17:C37268 A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue. CSP:2000-0386 MESH:D000230 NCI:C2852 SNOMEDCT_US_2016_03_01:189578007 SNOMEDCT_US_2016_03_01:189582009 SNOMEDCT_US_2016_03_01:35917007 SNOMEDCT_US_2016_03_01:443961001 UMLS_CUI:C0001418 adenocarcinoma NOS (morphologic abnormality) adenocarcinoma, no subtype (morphologic abnormality) adenocarcinomas disease_ontology DOID:299 adenocarcinoma A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue. url:http://en.wikipedia.org/wiki/Adenocarcinoma adenocarcinoma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189582009 adenocarcinoma, no subtype (morphologic abnormality) SNOMEDCT_2005_07_31:35917007 adenocarcinomas SNOMEDCT_2005_07_31:189578007 disease_ontology DOID:2990 tumor of specialized prostatic stroma true Stromal tumor (morphologic abnormality) stromal tumors disease_ontology DOID:2991 stromal neoplasm true Stromal tumor (morphologic abnormality) SNOMEDCT_2005_07_31:128752000 stromal tumors NCI2004_11_17:C6781 NCI:C5545 UMLS_CUI:C1335515 neuroendocrine tumor of the prostate disease_ontology DOID:2992 prostate neuroendocrine neoplasm neuroendocrine tumor of the prostate NCI2004_11_17:C5545 A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from germ cells. DOID:2157 MESH:D009373 NCI:C3708 SNOMEDCT_US_2016_03_01:115233005 SNOMEDCT_US_2016_03_01:189839002 SNOMEDCT_US_2016_03_01:189854008 SNOMEDCT_US_2016_03_01:28307001 SNOMEDCT_US_2016_03_01:302853003 SNOMEDCT_US_2016_03_01:402878003 UMLS_CUI:C0205851 malignant tumor of the germ cell disease_ontology germ cell neoplasm germ cell tumour DOID:2994 germ cell cancer A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from germ cells. url:http://en.wikipedia.org/wiki/Germ_cell_tumor malignant tumor of the germ cell NCI2004_11_17:C4925 germ cell neoplasm CSP2005:2016-0850 germ cell tumour SNOMEDCT_2005_07_31:28307001 Ovarian mixed germ cell-Sex Cord tumor disease_ontology DOID:2995 ovarian mixed germ cell-sex cord neoplasm true Ovarian mixed germ cell-Sex Cord tumor NCI2004_11_17:C7321 NCI:C5241 SNOMEDCT_US_2016_03_01:406096006 SNOMEDCT_US_2016_03_01:703601005 UMLS_CUI:C1321220 mixed germ cell-Sex Cord tumor mixed germ cell-sex cord-stromal tumor (morphologic abnormality) disease_ontology DOID:2996 mixed germ cell-sex cord neoplasm mixed germ cell-Sex Cord tumor NCI2004_11_17:C5241 mixed germ cell-sex cord-stromal tumor (morphologic abnormality) SNOMEDCT_2005_07_31:406096006 MESH:D018310 SNOMEDCT_US_2016_03_01:34110004 UMLS_CUI:C0206723 disease_ontology DOID:2997 Sertoli-Leydig cell tumor A male reproductive system cancer that is located_in the testicles. DOID:12231 DOID:5554 ICD10CM:C62 ICD10CM:C62.9 ICD10CM:C62.90 ICD9CM:186 MESH:D013736 NCI:C3404 NCI:C5053 NCI:C7251 OMIM:273300 SNOMEDCT_US_2016_03_01:126900000 SNOMEDCT_US_2016_03_01:188228003 SNOMEDCT_US_2016_03_01:236778008 SNOMEDCT_US_2016_03_01:269472003 SNOMEDCT_US_2016_03_01:363449006 SNOMEDCT_US_2016_03_01:94087009 UMLS_CUI:C0039590 UMLS_CUI:C0153594 UMLS_CUI:C1333010 childhood neoplasm of the testis neoplasm of testis (disorder) pediatric testicular neoplasm testicular tumor testicular tumor (disorder) testis cancer testis neoplasm disease_ontology DOID:2998 OMIM mapping confirmed by DO. [SN]. testicular cancer A male reproductive system cancer that is located_in the testicles. url:http://www.cancer.gov/dictionary?CdrID=445090 neoplasm of testis (disorder) SNOMEDCT_2005_07_31:126900000 pediatric testicular neoplasm NCI2004_11_17:C5053 testicular tumor NCI2004_11_17:C3404 testicular tumor (disorder) SNOMEDCT_2005_07_31:236778008 testis neoplasm CSP2005:2016-2999 DOID:5333 MESH:D006106 NCI:C3070 NCI:C4205 SNOMEDCT_US_2016_03_01:18861007 SNOMEDCT_US_2016_03_01:189734000 SNOMEDCT_US_2016_03_01:46585005 UMLS_CUI:C0018206 UMLS_CUI:C0334401 Granulosa cell neoplasm Granulosa cell tumor, adult type (morphologic abnormality) Granulosa cell tumour, sarcomatoid malignant granulosa cell neoplasm disease_ontology DOID:2999 granulosa cell tumor Granulosa cell neoplasm NCI2004_11_17:C3070 Granulosa cell tumor, adult type (morphologic abnormality) SNOMEDCT_2005_07_31:46585005 Granulosa cell tumour, sarcomatoid SNOMEDCT_2005_07_31:18861007 A disease that has an etiology of chemical exposure or exposure to other environmental factors excluding infectious agents. DOID:2711 environmentally induced disease disease_ontology DOID:3 disease by environmental exposure true A disease that has an etiology of chemical exposure or exposure to other environmental factors excluding infectious agents. DO:wk,ls URL:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=environment NCI:C7113 SNOMEDCT_US_2016_03_01:253013001 UMLS_CUI:C0474809 endometrioid neoplasm endometrioid tumor (morphologic abnormality) disease_ontology female reproductive endometrioid neoplasm DOID:3001 female reproductive endometrioid cancer endometrioid neoplasm NCI2004_11_17:C7113 endometrioid tumor (morphologic abnormality) SNOMEDCT_2005_07_31:253013001 NCI:C5237 UMLS_CUI:C1335172 neuroendocrine tumor of Ovary disease_ontology DOID:3002 ovary neuroendocrine neoplasm neuroendocrine tumor of Ovary NCI2004_11_17:C5237 NCI:C5212 UMLS_CUI:C1112166 tumor of Nipple disease_ontology DOID:3003 nipple neoplasm tumor of Nipple NCI2004_11_17:C5212 NCI:C40389 UMLS_CUI:C1511319 disease_ontology DOID:3004 breast myoepithelial neoplasm A breast carcinoma that derives_from the lining of milk ducts. MESH:D044584 SNOMEDCT_US_2016_03_01:82711006 UMLS_CUI:C1176475 duct carcinoma, NOS disease_ontology DOID:3007 breast ductal carcinoma A breast carcinoma that derives_from the lining of milk ducts. url:http://cancergenome.nih.gov/cancersselected/breastductal url:http://www.cancer.gov/dictionary?CdrID=45085 duct carcinoma, NOS SNOMEDCT_2005_07_31:82711006 DOID:3005 MESH:D018270 NCI:C4017 NCI:C4194 SNOMEDCT_US_2016_03_01:408643008 SNOMEDCT_US_2016_03_01:58477004 UMLS_CUI:C1134719 UMLS_CUI:C1527349 Infiltrating ductal carcinoma of breast Invasive ductal carcinoma, NST ductal adenocarcinoma disease_ontology DOID:3008 invasive ductal carcinoma Infiltrating ductal carcinoma of breast SNOMEDCT_2005_07_31:408643008 Invasive ductal carcinoma, NST NCI2004_11_17:C4194 ductal adenocarcinoma NCI2004_11_17:C4017 NCI:C5169 UMLS_CUI:C1332635 neuroendocrine tumor of the breast disease_ontology DOID:3009 breast neuroendocrine neoplasm neuroendocrine tumor of the breast NCI2004_11_17:C5169 NCI:C27939 UMLS_CUI:C0861352 Lobular Intraepithelial Neoplasia lobular carcinoma in situ disease_ontology DOID:3010 lobular neoplasia Lobular Intraepithelial Neoplasia NCI2004_11_17:C27939 NCI:C40400 UMLS_CUI:C1511312 disease_ontology DOID:3011 breast granular cell tumor An autosomal dominant disease characterized by increases risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata. MESH:D016864 NCI:C3476 OMIM:151623 OMIM:609265 OMIM:609266 ORDO:524 SNOMEDCT_US_2016_03_01:428850001 UMLS_CUI:C0085390 Li-Fraumeni Familiar cancer Susceptibility syndrome SBLA syndrome sarcoma, breast, leukaemia and adrenal gland syndrome disease_ontology DOID:3012 Xref MGI. OMIM mapping confirmed by DO. [SN]. Li-Fraumeni syndrome An autosomal dominant disease characterized by increases risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata. url:http://en.wikipedia.org/wiki/Li%E2%80%93Fraumeni_syndrome url:http://ghr.nlm.nih.gov/condition/li-fraumeni-syndrome Li-Fraumeni Familiar cancer Susceptibility syndrome NCI2004_11_17:C3476 NCI:C36083 UMLS_CUI:C0948967 disease_ontology DOID:3013 intraductal breast neoplasm Papillary tumor of breast disease_ontology DOID:3015 breast papillary neoplasm true Papillary tumor of breast NCI2004_11_17:C5206 DOID:1632 DOID:3018 MESH:D003557 NCI:C4275 NCI:C4504 NCI:C7575 SNOMEDCT_US_2016_03_01:134331008 SNOMEDCT_US_2016_03_01:189826001 SNOMEDCT_US_2016_03_01:254844000 SNOMEDCT_US_2016_03_01:712989008 SNOMEDCT_US_2016_03_01:87913009 UMLS_CUI:C0238031 UMLS_CUI:C0346154 UMLS_CUI:C0600066 Phyllodes breast neoplasm Phyllodes tumor, malignant (morphologic abnormality) malignant Mammary Phyllodes tumor malignant Phyllodes neoplasm malignant cystosarcoma phyllodes malignant cystosarcoma phyllodes (morphologic abnormality) malignant phyllodes tumor (morphologic abnormality) malignant phyllodes tumor of breast (disorder) phyllodes breast tumor disease_ontology DOID:3016 breast malignant phyllodes tumor Phyllodes breast neoplasm NCI2004_11_17:C7575 Phyllodes tumor, malignant (morphologic abnormality) SNOMEDCT_2005_07_31:87913009 malignant Mammary Phyllodes tumor NCI2004_11_17:C4504 malignant Phyllodes neoplasm NCI2004_11_17:C4275 malignant cystosarcoma phyllodes (morphologic abnormality) SNOMEDCT_2005_07_31:189826001 malignant phyllodes tumor (morphologic abnormality) SNOMEDCT_2005_07_31:134331008 malignant phyllodes tumor of breast (disorder) SNOMEDCT_2005_07_31:254844000 A breast cancer that has_material_basis_in abnormally proliferating cells derives_from mesenchymal cells. NCI:C4670 SNOMEDCT_US_2016_03_01:278050001 UMLS_CUI:C0349667 sarcoma of breast (disorder) disease_ontology DOID:3017 breast sarcoma A breast cancer that has_material_basis_in abnormally proliferating cells derives_from mesenchymal cells. url:http://en.wikipedia.org/wiki/Sarcoma sarcoma of breast (disorder) SNOMEDCT_2005_07_31:278050001 disease_ontology DOID:3019 postpartum acute renal failure true A substance-related disorder that involves a maladaptive pattern of substance use leading to significant impairment in functioning. MESH:D019966 NCI:C16522 SNOMEDCT_US_2016_03_01:26416006 UMLS_CUI:C0013146 disease_ontology DOID:302 substance abuse A substance-related disorder that involves a maladaptive pattern of substance use leading to significant impairment in functioning. url:http://allpsych.com/disorders/substance/substanceabuse.html url:http://en.wikipedia.org/wiki/Substance_abuse disease_ontology DOID:3020 Complication of labor and/or delivery true disease_ontology DOID:3021 acute kidney failure disease_ontology DOID:3022 complication of the puerperium true NCI:C5596 UMLS_CUI:C1332139 Prostatic acinar adenocarcinoma disease_ontology DOID:3024 prostatic acinar adenocarcinoma Prostatic acinar adenocarcinoma NCI2004_11_17:C5596 A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from spindle cells and/or derives_from giant cells. MESH:D018267 NCI:C3768 SNOMEDCT_US_2016_03_01:45410002 UMLS_CUI:C0206685 acinar cell carcinoma (morphologic abnormality) acinic cell carcinoma disease_ontology DOID:3025 acinar cell carcinoma A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from spindle cells and/or derives_from giant cells. url:http://radiology.rsna.org/content/232/2/554.full acinar cell carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:45410002 acinic cell carcinoma NCI2004_11_17:C3768 disease_ontology DOID:3026 metastatic prostatic adenocarcinoma true adenocarcinoma, metastatic (morphologic abnormality) adenocarcinoma, metastatic, NOS (morphologic abnormality) disease_ontology DOID:3027 metastatic adenocarcinoma true adenocarcinoma, metastatic (morphologic abnormality) SNOMEDCT_2005_07_31:4590003 adenocarcinoma, metastatic, NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189584005 Colonic adenoma with Intramucosal adenocarcinoma disease_ontology adenoma of colon with intramucosal adenocarcinoma DOID:3028 intramucosal adenocarcinoma colon adenoma true Colonic adenoma with Intramucosal adenocarcinoma NCI2004_11_17:C27413 NCI:C7966 UMLS_CUI:C0279639 Colonic mucinous adenocarcinoma disease_ontology DOID:3029 colon mucinous adenocarcinoma Colonic mucinous adenocarcinoma NCI2004_11_17:C7966 A disease of mental health involving the abuse or dependence on a substance that is ingested in order to produce a high, alter one's senses, or otherwise affect functioning. MESH:D019966 NCI:C92203 UMLS_CUI:C0236969 disease_ontology DOID:303 substance-related disorder A disease of mental health involving the abuse or dependence on a substance that is ingested in order to produce a high, alter one's senses, or otherwise affect functioning. url:http://allpsych.com/disorders/substance/index.html An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin. DOID:4532 MESH:D002288 NCI:C26712 NCI:C27379 NCI:C27825 SNOMEDCT_US_2016_03_01:72495009 SNOMEDCT_US_2016_03_01:900006 UMLS_CUI:C0007130 UMLS_CUI:C0334368 Mucin-Secreting adenocarcinoma Mucin-Secreting carcinoma Mucin-producing adenocarcinoma (morphologic abnormality) Mucous carcinoma Pseudomyxoma peritonei with unknown primary site mucin-producing adenocarcinoma disease_ontology DOID:3030 mucinous adenocarcinoma An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin. url:http://coloncancer.about.com/od/typesofcancer/a/Mucinous_Tumor.htm url:http://medical-dictionary.thefreedictionary.com/mucinous+carcinoma Mucin-Secreting adenocarcinoma NCI2004_11_17:C27379 Mucin-Secreting carcinoma NCI2004_11_17:C27825 Mucin-producing adenocarcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:900006 Mucous carcinoma NCI2004_11_17:C26712 Pseudomyxoma peritonei with unknown primary site SNOMEDCT_2005_07_31:72495009 Colonic Signet Ring adenocarcinoma disease_ontology DOID:3033 colon signet ring adenocarcinoma Colonic Signet Ring adenocarcinoma NCI2004_11_17:C7967 NCI:C38760 UMLS_CUI:C1515024 disease_ontology DOID:3038 submucosal invasive colon adenocarcinoma A cecum carcinoma that derives_from epithelial cells of glandular origin. NCI:C5543 SNOMEDCT_US_2016_03_01:413446001 UMLS_CUI:C1332866 Cecal adenocarcinoma adenocarcinoma of cecum (disorder) disease_ontology adenocarcinoma of cecum DOID:3039 cecum adenocarcinoma A cecum carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma Cecal adenocarcinoma NCI2004_11_17:C5543 adenocarcinoma of cecum (disorder) SNOMEDCT_2005_07_31:413446001 A contact dermititis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign. ICD10CM:L23 ICD10CM:L23.9 MESH:D017449 NCI:C26998 SNOMEDCT_US_2016_03_01:200841005 SNOMEDCT_US_2016_03_01:238575004 UMLS_CUI:C0162820 Allergic Contact Dermatitis Allergic contact dermatitis Allergic contact dermatitis (disorder) disease_ontology DOID:3042 allergic contact dermatitis A contact dermititis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign. ls:IEDB url:http://en.wikipedia.org/wiki/Allergic_contact_dermatitis Allergic Contact Dermatitis NCI2004_11_17:C26998 Allergic contact dermatitis SNOMEDCT_2005_07_31:200841005 Allergic contact dermatitis (disorder) SNOMEDCT_2005_07_31:238575004 A hypersensitivity reaction type I disease that is an abnormal response to a food, triggered by the body's immune system. MESH:D005512 SNOMEDCT_US_2016_03_01:157801005 SNOMEDCT_US_2016_03_01:213018006 SNOMEDCT_US_2016_03_01:414285001 SNOMEDCT_US_2016_03_01:52332009 UMLS_CUI:C0016470 food hypersensitivity disease_ontology DOID:3044 food allergy A hypersensitivity reaction type I disease that is an abnormal response to a food, triggered by the body's immune system. url:http://www.niaid.nih.gov/topics/foodAllergy/understanding/Pages/whatIsIt.aspx food hypersensitivity CSP2005:1525-0902 A syndrome that is characterized by four typical symptoms: polymorphous exanthemas, recurrent high fever, leucocytosis and arthralgia. MESH:D014924 SNOMEDCT_US_2016_03_01:68190001 UMLS_CUI:C0043195 Wissler syndrome Wissler's subsepsis allergica Wissler-Fanconi syndrome (finding) disease_ontology DOID:3047 Wissler's syndrome A syndrome that is characterized by four typical symptoms: polymorphous exanthemas, recurrent high fever, leucocytosis and arthralgia. url:http://en.wikipedia.org/wiki/Wissler%27s_syndrome url:http://www.ncbi.nlm.nih.gov/pubmed/8150635 Wissler-Fanconi syndrome (finding) SNOMEDCT_2005_07_31:68190001 A vasculitits that is systemic vasculitis realized as blood vessel inflammation and has_symptom asthma along with hay fever, rash and gastrointestinal bleeding. ICD10CM:M30.1 MESH:D015267 NCI:C34481 SNOMEDCT_US_2016_03_01:195362002 SNOMEDCT_US_2016_03_01:82275008 UMLS_CUI:C0008728 Allergic Granulomatous Angiitis Allergic granulomatosis angiitis (disorder) Churg-Strauss vasculitis disease_ontology DOID:3049 Churg-Strauss syndrome A vasculitits that is systemic vasculitis realized as blood vessel inflammation and has_symptom asthma along with hay fever, rash and gastrointestinal bleeding. url:http://www.hopkinsvasculitis.org/types-vasculitis/churgstrauss-syndrome-css/ url:http://www.mayoclinic.com/health/churg-strauss-syndrome/DS00855 Allergic Granulomatous Angiitis NCI2004_11_17:C34481 Allergic granulomatosis angiitis (disorder) SNOMEDCT_2005_07_31:82275008 Churg-Strauss vasculitis SNOMEDCT_2005_07_31:195362002 A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. DOID:2428 DOID:6570 CSP:2000-1867 MESH:D002277 MESH:D009375 NCI:C2916 NCI:C3709 SNOMEDCT_US_2016_03_01:118285006 SNOMEDCT_US_2016_03_01:134207000 SNOMEDCT_US_2016_03_01:154433003 SNOMEDCT_US_2016_03_01:188083002 SNOMEDCT_US_2016_03_01:189546004 SNOMEDCT_US_2016_03_01:189549006 SNOMEDCT_US_2016_03_01:189559007 SNOMEDCT_US_2016_03_01:269513004 SNOMEDCT_US_2016_03_01:68453008 SNOMEDCT_US_2016_03_01:71298006 UMLS_CUI:C0007097 UMLS_CUI:C0553707 UMLS_CUI:C1368683 epithelioma malignant Epithelioma disease_ontology DOID:305 carcinoma A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma epithelioma CSP2005:2000-5801 malignant Epithelioma NCI2004_11_17:C6927 An interstitial nephritis endemic to the regions along the Danube river, in the modern countries of Croatia, Bosnia and Herzegovina, Serbia, Romania and Bulgaria. ICD10CM:N15.0 MESH:D001449 NCI:C84584 OMIM:124100 SNOMEDCT_US_2016_03_01:197748005 SNOMEDCT_US_2016_03_01:26121002 UMLS_CUI:C0004698 Balkan endemic nephropathy Danubian endemic familial nephropathy disease_ontology DEFN DOID:3052 OMIM mapping confirmed by DO. [SN]. Balkan nephropathy An interstitial nephritis endemic to the regions along the Danube river, in the modern countries of Croatia, Bosnia and Herzegovina, Serbia, Romania and Bulgaria. url:http://en.wikipedia.org/wiki/Danubian_endemic_familial_nephropathy A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Salmonella enterica subsp enterica serovar Paratyphi A, B or C, which are transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, has_symptom malaise, has_symptom anorexia, has_symptom constipation, has_symptom rosy spots on the central body, has_symptom non productive cough (in early stage of illness), has_symptom bradycardia, and has_symptom hepatosplenomegaly. DOID:13324 DOID:13325 DOID:3053 ICD10CM:A01.1 ICD10CM:A01.2 ICD10CM:A01.3 ICD10CM:A01.4 ICD9CM:002.1 ICD9CM:002.2 ICD9CM:002.3 ICD9CM:002.9 MESH:D010284 NCI:C34894 NCI:C34895 NCI:C34896 NCI:C34897 SNOMEDCT_US_2016_03_01:154270009 SNOMEDCT_US_2016_03_01:186092009 SNOMEDCT_US_2016_03_01:187268002 SNOMEDCT_US_2016_03_01:266174006 SNOMEDCT_US_2016_03_01:51254007 SNOMEDCT_US_2016_03_01:71085009 SNOMEDCT_US_2016_03_01:76623002 SNOMEDCT_US_2016_03_01:85904008 UMLS_CUI:C0030528 UMLS_CUI:C0343375 UMLS_CUI:C0343376 UMLS_CUI:C0343377 Paratyphoid Paratyphoid A fever (disorder) Paratyphoid B fever (disorder) Paratyphoid C fever (disorder) Paratyphoid Fever A Paratyphoid Fever B Paratyphoid Fever C Paratyphoid fever A Paratyphoid fever B Paratyphoid fever C paratyphoid a paratyphoid b paratyphoid c disease_ontology DOID:3055 paratyphoid fever A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Salmonella enterica subsp enterica serovar Paratyphi A, B or C, which are transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, has_symptom malaise, has_symptom anorexia, has_symptom constipation, has_symptom rosy spots on the central body, has_symptom non productive cough (in early stage of illness), has_symptom bradycardia, and has_symptom hepatosplenomegaly. url:http://en.wikipedia.org/wiki/Paratyphoid_fever Paratyphoid SNOMEDCT_2005_07_31:266174006 Paratyphoid A fever (disorder) SNOMEDCT_2005_07_31:76623002 Paratyphoid B fever (disorder) SNOMEDCT_2005_07_31:71085009 Paratyphoid C fever (disorder) SNOMEDCT_2005_07_31:51254007 Paratyphoid Fever A NCI2004_11_17:C34894 Paratyphoid Fever B NCI2004_11_17:C34895 Paratyphoid Fever C NCI2004_11_17:C34896 Paratyphoid fever A ICD9CM_2006:002.1 Paratyphoid fever B ICD9CM_2006:002.2 Paratyphoid fever C ICD9CM_2006:002.3 A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Paramyxoviridae viruses. disease_ontology DOID:3056 Paramyxoviridae infectious disease true A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Paramyxoviridae viruses. url:http://en.wikipedia.org/wiki/Paramyxoviridae Dyskinesia disease_ontology DOID:306 dyskinetic syndrome true Dyskinesia SNOMEDCT_2005_07_31:206824003 disorder of taste (disorder) taste disorder disease_ontology DOID:3067 taste disorder true disorder of taste (disorder) SNOMEDCT_2005_07_31:399993004 taste disorder CSP2005:2683-4340 An astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes. DOID:3075 DOID:3080 MESH:D005909 NCI:C3058 NCI:C39750 NCI:C9094 SNOMEDCT_US_2016_03_01:189917003 SNOMEDCT_US_2016_03_01:269506004 SNOMEDCT_US_2016_03_01:63634009 UMLS_CUI:C0017636 UMLS_CUI:C0278878 UMLS_CUI:C1514422 GBM GBM (Glioblastoma) adult glioblastoma multiforme grade IV adult Astrocytic tumor primary glioblastoma multiforme spongioblastoma multiforme disease_ontology DOID:3068 glioblastoma multiforme An astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes. url:http://cancergenome.nih.gov/cancersselected/glioblastomamultiforme url:http://en.wikipedia.org/wiki/Glioblastoma_multiforme url:http://www.ncbi.nlm.nih.gov/pubmed/20129251 url:http://www.ncbi.nlm.nih.gov/pubmed/23029035 GBM (Glioblastoma) NCI2004_11_17:C3058 grade IV adult Astrocytic tumor NCI2004_11_17:C9094 spongioblastoma multiforme CSP2005:2012-6410 A malignant glioma that is has_material_basis_in astocyte cells, a type of star-shaped glial cell, located_in the cerebrum. DOID:4861 MESH:D001254 NCI:C4951 NCI:C60781 NCI:C6958 SNOMEDCT_US_2016_03_01:189914005 SNOMEDCT_US_2016_03_01:38713004 SNOMEDCT_US_2016_03_01:99131000119108 UMLS_CUI:C0004114 UMLS_CUI:C0750935 Astrocytic tumor astrocytoma of Cerebrum astrocytoma of brain (disorder) astrocytoma, no ICD-O subtype (morphologic abnormality) astroglioma cerebral astrocytoma disease_ontology DOID:3069 astrocytoma A malignant glioma that is has_material_basis_in astocyte cells, a type of star-shaped glial cell, located_in the cerebrum. url:http://en.wikipedia.org/wiki/Astrocytoma url:http://www.cancer.org/Cancer/BrainCNSTumorsinAdults/DetailedGuide/brain-and-spinal-cord-tumors-in-adults-what-are-brain-spinal-tumors Astrocytic tumor NCI2004_11_17:C6958 astrocytoma of Cerebrum NCI2004_11_17:C4951 astrocytoma of brain (disorder) SNOMEDCT_2005_07_31:254938000 astrocytoma, no ICD-O subtype (morphologic abnormality) SNOMEDCT_2005_07_31:38713004 astroglioma CSP2005:2012-6768 A cell type cancer that has_material_basis_in glial cells and is located_in brain or located_in spine. DOID:2627 KEGG:05214 MESH:D005910 NCI:C3059 NCI:C4822 OMIM:137800 OMIM:607248 OMIM:613028 OMIM:613029 OMIM:613030 OMIM:613031 OMIM:613032 OMIM:613033 ORDO:182067 SNOMEDCT_US_2016_03_01:115240006 SNOMEDCT_US_2016_03_01:189908003 SNOMEDCT_US_2016_03_01:189909006 SNOMEDCT_US_2016_03_01:189926000 SNOMEDCT_US_2016_03_01:269505000 SNOMEDCT_US_2016_03_01:393564001 SNOMEDCT_US_2016_03_01:416500007 SNOMEDCT_US_2016_03_01:74532006 UMLS_CUI:C0017638 UMLS_CUI:C0555198 Gliomas (morphologic abnormality) Neuroglial tumor glial cell tumor glioma glioma (morphologic abnormality) glioma NOS glioma NOS (morphologic abnormality) glioma, NOS glioma, malignant glioma, malignant, no ICD-O subtype malignant Neuroglial tumor malignant glioma (morphologic abnormality) malignant glioma - category disease_ontology DOID:3070 Xref MGI. OMIM mapping confirmed by DO. [SN]. malignant glioma A cell type cancer that has_material_basis_in glial cells and is located_in brain or located_in spine. url:http://en.wikipedia.org/wiki/Malignant_glioma Gliomas (morphologic abnormality) SNOMEDCT_2005_07_31:189908003 Neuroglial tumor NCI2004_11_17:C3059 glial cell tumor CSP2005:2012-6589 glioma (morphologic abnormality) SNOMEDCT_2005_07_31:115240006 glioma NOS SNOMEDCT_2005_07_31:189909006 glioma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189926000 glioma, NOS SNOMEDCT_2005_07_31:74532006 glioma, malignant SNOMEDCT_2005_07_31:189909006 glioma, malignant, no ICD-O subtype SNOMEDCT_2005_07_31:74532006 malignant Neuroglial tumor NCI2004_11_17:C4822 malignant glioma (morphologic abnormality) SNOMEDCT_2005_07_31:269505000 malignant glioma - category SNOMEDCT_2005_07_31:416500007 MESH:D018316 NCI:C3796 SNOMEDCT_US_2016_03_01:189909006 SNOMEDCT_US_2016_03_01:189918008 SNOMEDCT_US_2016_03_01:35262004 UMLS_CUI:C0206726 Glioblastoma with sarcomatous component disease_ontology DOID:3071 gliosarcoma Glioblastoma with sarcomatous component SNOMEDCT_2005_07_31:189918008 disease_ontology DOID:3072 secondary glioblastoma multiforme true NCI:C4642 SNOMEDCT_US_2016_03_01:276828006 UMLS_CUI:C0349543 Glioblastoma multiforme of brain (disorder) brain Glioblastoma disease_ontology DOID:3073 brain glioblastoma multiforme Glioblastoma multiforme of brain (disorder) SNOMEDCT_2005_07_31:276828006 brain Glioblastoma NCI2004_11_17:C4642 A glioblastoma multiforme that is characterized by a prevalence of bizarre, multinucleated giant cells. MESH:D005909 NCI:C4325 SNOMEDCT_US_2016_03_01:44529004 UMLS_CUI:C0334588 Monstrocellular sarcoma [obs] disease_ontology DOID:3074 giant cell glioblastoma A glioblastoma multiforme that is characterized by a prevalence of bizarre, multinucleated giant cells. url:http://en.wikipedia.org/wiki/Giant-cell_glioblastoma url:http://neuro-oncology.oxfordjournals.org/content/11/6/833.full Monstrocellular sarcoma [obs] SNOMEDCT_2005_07_31:44529004 NCI:C7049 UMLS_CUI:C1332183 adult astrocytoma disease_ontology DOID:3076 adult astrocytic tumour adult astrocytoma NCI2004_11_17:C7049 Undifferentiated pediatric astrocytoma pediatric Glioblastoma Multiforme disease_ontology DOID:3077 anaplastic childhood astrocytoma true Undifferentiated pediatric astrocytoma NCI2004_11_17:C6215 pediatric Glioblastoma Multiforme NCI2004_11_17:C5136 An astrocytoma that is characterized by cells with regular, round to oval nuclei. MESH:D001254 NCI:C9477 SNOMEDCT_US_2016_03_01:55353007 UMLS_CUI:C0334579 anaplastic astrocytoma grade III Astrocytic tumor disease_ontology DOID:3078 grade III astrocytoma An astrocytoma that is characterized by cells with regular, round to oval nuclei. url:http://en.wikipedia.org/wiki/Anaplastic_astrocytoma url:http://www.abta.org/brain-tumor-information/types-of-tumors/astrocytoma.html url:http://www.cancer.gov/dictionary?CdrID=45591 grade III Astrocytic tumor NCI2004_11_17:C9477 NCI:C9022 SNOMEDCT_US_2016_03_01:128854008 SNOMEDCT_US_2016_03_01:253065004 SNOMEDCT_US_2016_03_01:67859002 UMLS_CUI:C1321865 Juvenile astrocytoma Juvenile astrocytoma (morphologic abnormality) pediatric astrocytoma disease_ontology DOID:3079 juvenile astrocytoma Juvenile astrocytoma SNOMEDCT_2005_07_31:128854008 Juvenile astrocytoma SNOMEDCT_2005_07_31:67859002 Juvenile astrocytoma (morphologic abnormality) SNOMEDCT_2005_07_31:253065004 pediatric astrocytoma NCI2004_11_17:C9022 MESH:D004831 SNOMEDCT_US_2016_03_01:192847001 SNOMEDCT_US_2016_03_01:192992007 SNOMEDCT_US_2016_03_01:37356005 UMLS_CUI:C0014550 Epileptic seizures - myoclonic (disorder) Epileptic seizures, myoclonic Myoclonic seizure Myoclonic seizure disorder myoclonia epileptica myoclonic epilepsy disease_ontology DOID:308 early myoclonic encephalopathy Epileptic seizures - myoclonic (disorder) SNOMEDCT_2005_07_31:192992007 Epileptic seizures, myoclonic MTHICD9_2006:345.1 Myoclonic seizure SNOMEDCT_2005_07_31:192847001 Myoclonic seizure disorder SNOMEDCT_2005_07_31:37356005 myoclonia epileptica CSP2005:0485-7984 MESH:D018191 NCI:C3724 SNOMEDCT_US_2016_03_01:399882002 SNOMEDCT_US_2016_03_01:40225001 SNOMEDCT_US_2016_03_01:423984004 UMLS_CUI:C0206620 cystic Hygroma disease_ontology DOID:3081 cystic lymphangioma cystic Hygroma NCI2004_11_17:C3724 ICD10CM:J84.9 MESH:D017563 SNOMEDCT_US_2016_03_01:233703007 SNOMEDCT_US_2016_03_01:64667001 UMLS_CUI:C0206062 ILD disease_ontology DOID:3082 interstitial lung disease ILD CSP2005:4007-0072 DOID:11500 DOID:6144 EFO:0000341 ICD10CM:J44.9 MESH:D029424 NCI:C3199 SNOMEDCT_US_2016_03_01:13645005 SNOMEDCT_US_2016_03_01:155565006 SNOMEDCT_US_2016_03_01:155569000 SNOMEDCT_US_2016_03_01:155585005 SNOMEDCT_US_2016_03_01:155617000 SNOMEDCT_US_2016_03_01:195935004 SNOMEDCT_US_2016_03_01:195948000 SNOMEDCT_US_2016_03_01:196003006 SNOMEDCT_US_2016_03_01:413846005 UMLS_CUI:C0024117 COLD (chronic obstructive lung disease) COPD chronic obstructive airway disease chronic obstructive lung disease disease_ontology DOID:3083 chronic obstructive pulmonary disease COLD (chronic obstructive lung disease) CSP2005:4004-0004 COPD NCI2004_11_17:C3199 chronic obstructive lung disease SNOMEDCT_2005_07_31:195948000 ICD10CM:K06.1 MESH:D019214 SNOMEDCT_US_2016_03_01:196375006 SNOMEDCT_US_2016_03_01:271083000 SNOMEDCT_US_2016_03_01:54711002 UMLS_CUI:C0376480 Gingival enlargement (disorder) Gingival enlargement NOS Gingival enlargement NOS (disorder) disease_ontology DOID:3086 gingival overgrowth Gingival enlargement (disorder) SNOMEDCT_2005_07_31:54711002 Gingival enlargement NOS MTHICD9_2006:523.8 Gingival enlargement NOS SNOMEDCT_2005_07_31:196375006 Gingival enlargement NOS (disorder) SNOMEDCT_2005_07_31:271083000 DOID:10422 DOID:10424 ICD10CM:K05.0 ICD10CM:K05.00 ICD10CM:K05.1 ICD10CM:K05.10 ICD9CM:523.0 ICD9CM:523.1 MESH:D005891 NCI:C34474 NCI:C34636 SNOMEDCT_US_2016_03_01:155643004 SNOMEDCT_US_2016_03_01:155644005 SNOMEDCT_US_2016_03_01:196355002 SNOMEDCT_US_2016_03_01:196358000 SNOMEDCT_US_2016_03_01:234990002 SNOMEDCT_US_2016_03_01:266490003 SNOMEDCT_US_2016_03_01:31642005 SNOMEDCT_US_2016_03_01:66383009 SNOMEDCT_US_2016_03_01:72621003 UMLS_CUI:C0008684 UMLS_CUI:C0017574 UMLS_CUI:C0155937 acute gingivitis chronic gingivitis disease_ontology DOID:3087 gingivitis chronic gingivitis ICD9CM_2006:523.1 SNOMEDCT_2005_07_31:155644005 SNOMEDCT_2005_07_31:196355002 SNOMEDCT_2005_07_31:266490003 NCI:C27162 SNOMEDCT_US_2016_03_01:50390006 UMLS_CUI:C0436545 Non-Specific Granulomatous Orchitis disease_ontology DOID:3089 granulomatous orchitis Non-Specific Granulomatous Orchitis NCI2004_11_17:C27162 disease_ontology DOID:3090 testicular non-neoplastic disease true disease_ontology DOID:3091 Acinetobacter infectious disease true disease_ontology DOID:3092 opportunistic Moraxellaceae infectious disease true An organ system cancer located_in the nervous system that affects the central or peripheral nervous system. DOID:1193 DOID:3195 DOID:4695 ICD9CM:192 ICD9CM:192.9 MESH:D009380 NCI:C35562 SNOMEDCT_US_2016_03_01:188306000 UMLS_CUI:C0027665 UMLS_CUI:C0153643 UMLS_CUI:C1334956 malignant neoplasm of nervous system neoplasm of nervous system (disorder) nervous system neoplasm neural neoplasm neural tumor tumor of the nervous system disease_ontology DOID:3093 nervous system cancer An organ system cancer located_in the nervous system that affects the central or peripheral nervous system. url:http://emedicine.medscape.com/oncology url:http://en.wikipedia.org/wiki/Nervous_system_disease neoplasm of nervous system (disorder) SNOMEDCT_2005_07_31:126950007 nervous system neoplasm CSP2005:2012-5157 neural tumor NCI2004_11_17:C35562 tumor of the nervous system NCI2004_11_17:C3268 tumor of Neuroepithelium disease_ontology DOID:3094 neuroepithelial neoplasm true tumor of Neuroepithelium NCI2004_11_17:C3787 A germ cell cancer that is derives_from a mixture of germs cells and embryonal cells. MESH:D009373 UMLS_CUI:C0027658 disease_ontology germ cell and embryonal neoplasm DOID:3095 germ cell and embryonal cancer A germ cell cancer that is derives_from a mixture of germs cells and embryonal cells. url:http://en.wikipedia.org/wiki/Germ_cell ICD10CM:H04.57 ICD10CM:H04.579 ICD9CM:375.54 SNOMEDCT_US_2016_03_01:11772001 UMLS_CUI:C0155246 disease_ontology DOID:3096 stenosis of lacrimal sac Stenosis and insufficiency of lacrimal passages (disorder) Stenosis and insufficiency of lacrimal passages NOS (disorder) Stenosis of lacrimal passages disease_ontology DOID:3097 stenosis and insufficiency of lacrimal passage true Stenosis and insufficiency of lacrimal passages (disorder) SNOMEDCT_2005_07_31:278514000 Stenosis and insufficiency of lacrimal passages NOS (disorder) SNOMEDCT_2005_07_31:193996003 Stenosis of lacrimal passages SNOMEDCT_2005_07_31:155184002 Stenosis of lacrimal passages SNOMEDCT_2005_07_31:267739007 MESH:D018228 NCI:C3746 SNOMEDCT_US_2016_03_01:73506006 UMLS_CUI:C0206652 disease_ontology DOID:3098 small cell sarcoma ICD10CM:E88.42 MESH:D017243 NCI:C84889 OMIM:545000 SNOMEDCT_US_2016_03_01:230426003 SNOMEDCT_US_2016_03_01:57254004 SNOMEDCT_US_2016_03_01:68448003 UMLS_CUI:C0162672 Fukuhara syndrome (disorder) Myoclonic epilepsy - ragged red fibers (disorder) Myoclonus epilepsy AND ragged red fibers (disorder) Myoclonus with epilepsy and with Ragged Red Fibers (MERRF syndrome) disease_ontology DOID:310 OMIM mapping confirmed by DO. [SN]. MERRF syndrome Fukuhara syndrome (disorder) SNOMEDCT_2005_07_31:57254004 Myoclonic epilepsy - ragged red fibers (disorder) SNOMEDCT_2005_07_31:230426003 Myoclonus epilepsy AND ragged red fibers (disorder) SNOMEDCT_2005_07_31:68448003 Myoclonus with epilepsy and with Ragged Red Fibers (MERRF syndrome) MTHICD9_2006:277.87 disease_ontology DOID:3100 Ureaplasma urealyticum urethritis true disease_ontology DOID:3101 primary Mycoplasmatales infectious disease true Arterial thoracic outlet syndrome due to cervical rib disease_ontology DOID:3102 cervical rib syndrome true Arterial thoracic outlet syndrome due to cervical rib SNOMEDCT_2005_07_31:413577001 A vascular disease that is characterized by compression at the superior thoracic outlet[1] resulting from excess pressure placed on a neurovascular bundle passing between the anterior scalene and middle scalene muscles. ICD10CM:G54.0 MESH:D013901 NCI:C85188 SNOMEDCT_US_2016_03_01:128210009 SNOMEDCT_US_2016_03_01:193106006 SNOMEDCT_US_2016_03_01:193107002 SNOMEDCT_US_2016_03_01:193108007 SNOMEDCT_US_2016_03_01:2040007 SNOMEDCT_US_2016_03_01:212769008 SNOMEDCT_US_2016_03_01:393578000 UMLS_CUI:C0039984 TOS - Thoracic outlet syndrome disease_ontology DOID:3103 thoracic outlet syndrome A vascular disease that is characterized by compression at the superior thoracic outlet[1] resulting from excess pressure placed on a neurovascular bundle passing between the anterior scalene and middle scalene muscles. url:http://en.wikipedia.org/wiki/Thoracic_outlet_syndrome TOS - Thoracic outlet syndrome SNOMEDCT_2005_07_31:212769008 A parasitic helminthiasis infectious disease that involves infection by parasitic roundworms including ascarids, filarids, hookworms, pinworms, and whipworms. DOID:4190 Nematode infection Roundworm Roundworm infection creeping eruption larva migrans disease_ontology DOID:3106 Nematoda infectious disease true A parasitic helminthiasis infectious disease that involves infection by parasitic roundworms including ascarids, filarids, hookworms, pinworms, and whipworms. url:http://en.wikipedia.org/wiki/Nematode url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4783 Nematode infection SNOMEDCT_2005_07_31:84706005 Roundworm SNOMEDCT_2005_07_31:271435007 Roundworm infection MTHICD9_2006:127.0 creeping eruption CSP2005:2214-2606 A parasitic helminthiasis infectious disease that involves parasitic infection of dogs, cats and foxes with Toxascaris leonina causing damage to the lining of the intestine. The symptoms include diarrhea, vomiting and loss of appetite. MESH:D017227 UMLS_CUI:C0040522 disease_ontology DOID:3107 toxascariasis A parasitic helminthiasis infectious disease that involves parasitic infection of dogs, cats and foxes with Toxascaris leonina causing damage to the lining of the intestine. The symptoms include diarrhea, vomiting and loss of appetite. url:http://en.wikipedia.org/wiki/Toxascaris_leonina A parasitic helminthiasis infectious disease that involves infection of the intestine of humans and birds with nematodes of the genus Ascaridia. ICD10CM:B77 MESH:D001198 SNOMEDCT_US_2016_03_01:2435008 SNOMEDCT_US_2016_03_01:76160002 UMLS_CUI:C0003952 disease_ontology DOID:3108 ascaridiasis A parasitic helminthiasis infectious disease that involves infection of the intestine of humans and birds with nematodes of the genus Ascaridia. url:http://www.ncbi.nlm.nih.gov/pubmed/18367882 A lymphopenia that is caused by a reduction of CD4+ T lymphocytes. MESH:D018344 NCI:C84780 UMLS_CUI:C0206744 disease_ontology DOID:3109 idiopathic CD4-positive T-lymphocytopenia A lymphopenia that is caused by a reduction of CD4+ T lymphocytes. url:http://en.wikipedia.org/wiki/Idiopathic_CD4%2B_lymphocytopenia A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with cysts and papillary endophytic projections. MESH:D018283 NCI:C3777 SNOMEDCT_US_2016_03_01:189687009 SNOMEDCT_US_2016_03_01:2735009 UMLS_CUI:C0206700 Papillary cystadenocarcinoma Papillary cystadenocarcinoma (morphologic abnormality) Papillary cystadenocarcinoma, NOS (morphologic abnormality) disease_ontology DOID:3110 papillary cystadenocarcinoma A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with cysts and papillary endophytic projections. url:http://www.sciencedirect.com/science/article/pii/S1741940905000841 Papillary cystadenocarcinoma NCI2004_11_17:C3777 Papillary cystadenocarcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:2735009 Papillary cystadenocarcinoma, NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189687009 An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, in which cystic accumulations of retained secretions are formed. MESH:D003536 NCI:C2971 SNOMEDCT_US_2016_03_01:189681005 SNOMEDCT_US_2016_03_01:21008007 UMLS_CUI:C0010631 cystadenocarcinoma (morphologic abnormality) cystadenocarcinoma NOS (morphologic abnormality) disease_ontology DOID:3111 cystadenocarcinoma An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, in which cystic accumulations of retained secretions are formed. url:http://en.wikipedia.org/wiki/Cystadenocarcinoma cystadenocarcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:21008007 cystadenocarcinoma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189681005 An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures and exhibit compressive, destructive growth that replaces the normal tissue. DOID:5596 MESH:D000231 NCI:C2853 NCI:C7438 SNOMEDCT_US_2016_03_01:189621008 SNOMEDCT_US_2016_03_01:4797003 SNOMEDCT_US_2016_03_01:64524002 UMLS_CUI:C0001420 UMLS_CUI:C1321863 Infiltrating and papillary adenocarcinoma Papillary adenocarcinoma Papillary adenocarcinoma (morphologic abnormality) Papillary adenocarcinoma NOS (morphologic abnormality) infiltrating papillary adenocarcinoma disease_ontology DOID:3112 papillary adenocarcinoma An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures and exhibit compressive, destructive growth that replaces the normal tissue. url:http://en.wikipedia.org/wiki/Papillary_adenocarcinoma Infiltrating and papillary adenocarcinoma SNOMEDCT_2005_07_31:64524002 Papillary adenocarcinoma NCI2004_11_17:C2853 Papillary adenocarcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:4797003 Papillary adenocarcinoma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189621008 A carcinoma that is derives_from epithelial cells with finger like projections. MESH:D002291 NCI:C2927 SNOMEDCT_US_2016_03_01:189562005 SNOMEDCT_US_2016_03_01:25910003 UMLS_CUI:C0007133 Papillary carcinoma Papillary carcinoma (morphologic abnormality) Papillary carcinoma NOS (morphologic abnormality) disease_ontology DOID:3113 papillary carcinoma A carcinoma that is derives_from epithelial cells with finger like projections. url:http://breastcancer.about.com/od/types/p/papillary_ca.htm Papillary carcinoma NCI2004_11_17:C2927 Papillary carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:25910003 Papillary carcinoma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189562005 A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions. MESH:D018284 NCI:C3778 NCI:C40101 SNOMEDCT_US_2016_03_01:189685001 SNOMEDCT_US_2016_03_01:90725004 UMLS_CUI:C0206701 serous adenocarcinoma serous carcinoma serous cystadenocarcinoma, NOS (morphologic abnormality) disease_ontology DOID:3114 serous cystadenocarcinoma A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions. url:http://ukpmc.ac.uk/abstract/MED/16025006 serous adenocarcinoma NCI2004_11_17:C3778 serous adenocarcinoma NCI2004_11_17:C40101 serous carcinoma SNOMEDCT_2005_07_31:90725004 serous cystadenocarcinoma, NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189685001 disease_ontology transitional cell neoplasm of the urinary tract DOID:3115 urinary tract transitional cell cancer true NCI:C7514 UMLS_CUI:C1334323 renal and ureteral tumor disease_ontology DOID:3116 kidney benign neoplasm renal and ureteral tumor NCI2004_11_17:C7514 A gastrointestinal system benign neoplasm located_in the hepatobiliary system. NCI:C8614 UMLS_CUI:C0854196 hepatobiliary tumors disease_ontology DOID:3117 hepatobiliary benign neoplasm A gastrointestinal system benign neoplasm located_in the hepatobiliary system. url:http://en.wikipedia.org/wiki/Hepatobiliary_system hepatobiliary tumors NCI2004_11_17:C8614 A gastrointestinal system disease that is located_in the liver and/or biliary tract. NCI:C3959 UMLS_CUI:C0267792 liver and biliary tract disease disease_ontology DOID:3118 hepatobiliary disease A gastrointestinal system disease that is located_in the liver and/or biliary tract. url:http://en.wikipedia.org/wiki/Hepato-biliary_diseases An organ system cancer located_in gastrointestinal tract that is manifested in organs of the gastrointestinal system. DOID:4945 DOID:8377 ICD10CM:C26.9 ICD9CM:239.0 MESH:D004067 MESH:D005770 NCI:C3052 NCI:C4890 SNOMEDCT_US_2016_03_01:126768004 SNOMEDCT_US_2016_03_01:128348002 SNOMEDCT_US_2016_03_01:128415001 SNOMEDCT_US_2016_03_01:189527000 SNOMEDCT_US_2016_03_01:276806006 SNOMEDCT_US_2016_03_01:367543008 SNOMEDCT_US_2016_03_01:428905002 SNOMEDCT_US_2016_03_01:93811007 UMLS_CUI:C0012243 UMLS_CUI:C0017185 UMLS_CUI:C0685938 GI tumor digestive system cancer gastrointestinal tract cancer disease_ontology DOID:3119 gastrointestinal system cancer An organ system cancer located_in gastrointestinal tract that is manifested in organs of the gastrointestinal system. url:http://en.wikipedia.org/wiki/Human_gastrointestinal_tract GI tumor NCI2004_11_17:C3052 gastrointestinal tract cancer NCI2004_11_17:C4890 ICD9CM:727.06 UMLS_CUI:C0158331 disease_ontology DOID:312 tenosynovitis of foot and ankle NCI:C7130 UMLS_CUI:C1333754 disease_ontology DOID:3120 gallbladder papillomatosis A biliary tract cancer that is located_in the gallbladder. DOID:8090 DOID:8157 ICD10CM:C23 ICD9CM:156.0 MESH:D005706 NCI:C3048 NCI:C35676 NCI:C7481 SNOMEDCT_US_2016_03_01:126854002 SNOMEDCT_US_2016_03_01:154472004 SNOMEDCT_US_2016_03_01:187782001 SNOMEDCT_US_2016_03_01:254602009 SNOMEDCT_US_2016_03_01:269550003 SNOMEDCT_US_2016_03_01:363353009 SNOMEDCT_US_2016_03_01:93810008 UMLS_CUI:C0016978 UMLS_CUI:C0153452 UMLS_CUI:C0278806 gallbladder Ca gallbladder neoplasm localized malignant gallbladder neoplasm malignant neoplasm of gallbladder malignant tumor of the gallbladder malignant tumour of gallbladder tumor of the gallbladder disease_ontology DOID:3121 gallbladder cancer A biliary tract cancer that is located_in the gallbladder. url:http://en.wikipedia.org/wiki/Gallbladder gallbladder Ca SNOMEDCT_2005_07_31:154472004 gallbladder neoplasm MTH:NOCODE localized malignant gallbladder neoplasm NCI2004_11_17:C35676 malignant tumor of the gallbladder NCI2004_11_17:C7481 malignant tumour of gallbladder SNOMEDCT_2005_07_31:254602009 SNOMEDCT_2005_07_31:93810008 tumor of the gallbladder NCI2004_11_17:C3048 MESH:D017219 SNOMEDCT_US_2016_03_01:196759006 SNOMEDCT_US_2016_03_01:244815007 UMLS_CUI:C0162651 gastric outflow obstruction disease_ontology DOID:3122 gastric outlet obstruction gastric outflow obstruction SNOMEDCT_2005_07_31:196759006 gastric outflow obstruction SNOMEDCT_2005_07_31:244815007 MEA MEA - Multiple endocrine adenomatosis Multiple endocrine adenomas (morphologic abnormality) Multiple endocrine adenomatosis disease_ontology DOID:3125 multiple endocrine neoplasia true MEA CSP2005:2009-6300 MEA - Multiple endocrine adenomatosis SNOMEDCT_2005_07_31:46724008 Multiple endocrine adenomas (morphologic abnormality) SNOMEDCT_2005_07_31:60549007 Multiple endocrine adenomatosis SNOMEDCT_2005_07_31:190566000 A rectal disease that involves inflammation of the rectal mucosa, which results from infection, inflammatory bowel disease, or radiation. Sexually transmitted pathogens (Neisseria gonorrhoeae, Chlamydia trachomatis, herpes simplex virus 1 and 2, Treponema pallidum) and enteric pathogens (Campylobacter, Shigella, Salmonella) are involved in the disease. Symptoms are rectal discomfort and bleeding. ICD10CM:K62.89 MESH:D011349 NCI:C38011 SNOMEDCT_US_2016_03_01:155806004 SNOMEDCT_US_2016_03_01:197229007 SNOMEDCT_US_2016_03_01:266534007 SNOMEDCT_US_2016_03_01:3951002 UMLS_CUI:C0033246 disease_ontology DOID:3127 proctitis A rectal disease that involves inflammation of the rectal mucosa, which results from infection, inflammatory bowel disease, or radiation. Sexually transmitted pathogens (Neisseria gonorrhoeae, Chlamydia trachomatis, herpes simplex virus 1 and 2, Treponema pallidum) and enteric pathogens (Campylobacter, Shigella, Salmonella) are involved in the disease. Symptoms are rectal discomfort and bleeding. url:http://www.cdc.gov/std/Treatment/2006/proctitis.htm url:http://www.merck.com/mmpe/sec02/ch020/ch020i.html#sec02-ch020-ch020g-1361 DOID:11479 DOID:11993 MESH:D001004 NCI:C26695 SNOMEDCT_US_2016_03_01:32110003 UMLS_CUI:C0003462 Nontraumatic tear of anus Solitary anal ulcer Ulcer of anus anal disease anal fissure anal fissure and fistula anal ulcer fissure in ano disease_ontology DOID:3128 anus disease Nontraumatic tear of anus MTHICD9_2006:565.0 Solitary anal ulcer SNOMEDCT_2005_07_31:197224002 Ulcer of anus SNOMEDCT_2005_07_31:20928004 anal fissure CSP2005:1248-3799 ICD9CM_2006:565.0 SNOMEDCT_2005_07_31:155791009 anal ulcer SNOMEDCT_2005_07_31:197225001 disease_ontology DOID:313 synovitis and tenosynovitis true An acute porphyria characterized by painful, blistering skin lesions that develop on sun-exposed skin. ICD10CM:E80.1 MESH:D017119 NCI:C27725 OMIM:176090 OMIM:176100 ORDO:101330 SNOMEDCT_US_2016_03_01:61860000 UMLS_CUI:C0162566 disease_ontology DOID:3132 Xref MGI. OMIM mapping confirmed by DO. [SN]. porphyria cutanea tarda An acute porphyria characterized by painful, blistering skin lesions that develop on sun-exposed skin. url:http://en.wikipedia.org/wiki/Porphyria_cutanea_tarda url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/321/viewAbstract A porphyria that has_symptom abdominal pain, has_symptom neuropathy, has_symptom autonomic instability and has_symptom psychosis. MESH:D017094 OMIM:612740 ORDO:100924 SNOMEDCT_US_2016_03_01:55056006 UMLS_CUI:C0162533 hepatic porphyria (disorder) disease_ontology DOID:3133 Xref MGI. acute porphyria A porphyria that has_symptom abdominal pain, has_symptom neuropathy, has_symptom autonomic instability and has_symptom psychosis. url:http://emedicine.medscape.com/article/957604-overview url:http://en.wikipedia.org/wiki/Porphyria url:http://www.merckmanuals.com/professional/endocrine_and_metabolic_disorders/porphyrias/acute_porphyrias.html hepatic porphyria (disorder) SNOMEDCT_2005_07_31:55056006 MESH:D005148 UMLS_CUI:C0015456 disease_ontology DOID:3134 facial dermatosis MESH:D012536 SNOMEDCT_US_2016_03_01:402694007 UMLS_CUI:C0036271 Dermatosis of scalp (disorder) disease_ontology DOID:3136 scalp dermatosis Dermatosis of scalp (disorder) SNOMEDCT_2005_07_31:402694007 MESH:D008069 SNOMEDCT_US_2016_03_01:238902007 SNOMEDCT_US_2016_03_01:254832003 UMLS_CUI:C0023804 Multiple symmetrical lipomatosis (disorder) disease_ontology DOID:3137 multiple symmetrical lipomatosis Multiple symmetrical lipomatosis (disorder) SNOMEDCT_2005_07_31:238902007 ICD10CM:L83 MESH:D000052 NCI:C26687 OMIM:100600 OMIM:200170 SNOMEDCT_US_2016_03_01:402599005 SNOMEDCT_US_2016_03_01:72129000 UMLS_CUI:C0000889 AN - Acanthosis nigricans Acanthosis nigricans (disorder) Keratosis nigricans keratosis nigricans disease_ontology DOID:3138 OMIM mapping confirmed by DO. [SN]. acanthosis nigricans AN - Acanthosis nigricans SNOMEDCT_2005_07_31:72129000 Acanthosis nigricans (disorder) SNOMEDCT_2005_07_31:402599005 Keratosis nigricans MTHICD9_2006:701.2 keratosis nigricans CSP2005:2716-6089 ICD9CM:727.02 NCI:C3402 SNOMEDCT_US_2016_03_01:128777004 SNOMEDCT_US_2016_03_01:310605004 SNOMEDCT_US_2016_03_01:71508003 SNOMEDCT_US_2016_03_01:95412009 SNOMEDCT_US_2016_03_01:95413004 UMLS_CUI:C1318543 Giant cell tumor of Tenosynovium Giant cell tumor of tendon sheath fibrous histiocytoma of tendon sheath (disorder) disease_ontology DOID:314 tenosynovial giant cell tumor Giant cell tumor of Tenosynovium NCI2004_11_17:C3402 Giant cell tumor of tendon sheath ICD9CM_2006:727.02 fibrous histiocytoma of tendon sheath (disorder) SNOMEDCT_2005_07_31:310605004 MESH:D012592 NCI:C85057 SNOMEDCT_US_2016_03_01:72967001 SNOMEDCT_US_2016_03_01:95323007 UMLS_CUI:C0036413 Buschke's scleredema disease_ontology DOID:3140 scleredema adultorum Buschke's scleredema CSP2005:2716-6810 MESH:D017520 SNOMEDCT_US_2016_03_01:11528001 UMLS_CUI:C0162855 disease_ontology DOID:3141 mucinoses MESH:D007868 UMLS_CUI:C0023219 disease_ontology DOID:3142 leg dermatosis DOID:8546 DOID:8547 DOID:8550 DOID:8588 DOID:8589 DOID:8657 DOID:8723 DOID:8804 DOID:8901 DOID:8908 DOID:9014 DOID:9089 DOID:9147 DOID:9236 Contact dermatitis and other eczema Contact dermatitis and other eczema due to animal (cat) (dog) dander Contact dermatitis and other eczema due to detergents Contact dermatitis and other eczema due to drugs and medicines in contact with skin Contact dermatitis and other eczema due to food in contact with skin Contact dermatitis and other eczema due to oils and greases Contact dermatitis and other eczema due to other chemical products Contact dermatitis and other eczema due to other specified agents Contact dermatitis and other eczema due to plants Contact dermatitis and other eczema due to plants [except food] Contact dermatitis and other eczema due to solvents Contact dermatitis and other eczema, unspecified cause Contact dermatitis and other eczemas Contact dermatitis and other eczemas (disorder) Contact dermatitis due to cosmetics Contact dermatitis due to cosmetics (disorder) Contact dermatitis due to metal (disorder) Contact dermatitis due to metals Contact dermatitis due to metals (disorder) Contact dermatitis: metals Dermatitis due to cosmetics Dermatitis due to metals Dermatitis due to other radiation Dermatitis due to other radiation NOS disease_ontology DOID:3143 eczematous skin disease true Contact dermatitis and other eczema due to plants MTHICD9_2006:692.6 Contact dermatitis and other eczemas SNOMEDCT_2005_07_31:200780008 Contact dermatitis and other eczemas (disorder) SNOMEDCT_2005_07_31:267792000 Contact dermatitis due to cosmetics SNOMEDCT_2005_07_31:200868005 SNOMEDCT_2005_07_31:267795003 Contact dermatitis due to cosmetics (disorder) SNOMEDCT_2005_07_31:78755001 Contact dermatitis due to metal (disorder) SNOMEDCT_2005_07_31:78634007 Contact dermatitis due to metals SNOMEDCT_2005_07_31:200876007 Contact dermatitis due to metals (disorder) SNOMEDCT_2005_07_31:267796002 Contact dermatitis: metals SNOMEDCT_2005_07_31:267845007 Dermatitis due to other radiation NOS MTHICD9_2006:692.82 A skin disease characterized by skin that is loose, hanging, wrinkled and lacking in elasticity; it can also affect connective tissue in other parts of the body, including the heart, blood vessels, joints, intestines and lungs. ICD10CM:Q82.8 MESH:D003483 NCI:C84663 OMIM:123700 OMIM:219100 OMIM:219150 OMIM:219200 OMIM:612940 OMIM:613177 OMIM:614434 OMIM:614437 OMIM:614438 ORDO:209 SNOMEDCT_US_2016_03_01:238825007 SNOMEDCT_US_2016_03_01:58588007 UMLS_CUI:C0010495 Cutis laxa loose skin disease_ontology DOID:3144 Xref MGI. cutis laxa A skin disease characterized by skin that is loose, hanging, wrinkled and lacking in elasticity; it can also affect connective tissue in other parts of the body, including the heart, blood vessels, joints, intestines and lungs. url:http://en.wikipedia.org/wiki/Cutis_laxa url:http://ghr.nlm.nih.gov/condition/cutis-laxa url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/175/viewAbstract Cutis laxa SNOMEDCT_2005_07_31:238825007 loose skin CSP2005:2716-6258 MESH:D006952 NCI:C34710 SNOMEDCT_US_2016_03_01:398796005 SNOMEDCT_US_2016_03_01:42569002 UMLS_CUI:C0020479 Remnant hyperlipidemia carbohydrate induced hyperlipemia familial hypercholesterolaemia with hyperlipaemia familial type 3 hyperlipoproteinemia (disorder) disease_ontology DOID:3145 hyperlipoproteinemia type III Remnant hyperlipidemia NCI2004_11_17:C34710 carbohydrate induced hyperlipemia CSP2005:1849-4681 carbohydrate induced hyperlipemia CSP2005:1849-4738 familial hypercholesterolaemia with hyperlipaemia SNOMEDCT_2005_07_31:398796005 familial type 3 hyperlipoproteinemia (disorder) SNOMEDCT_2005_07_31:42569002 An inherited metabolic disorder that involves the creation and degradation of lipids. MESH:D008052 UMLS_CUI:C0023772 dyslipidemia fatty acid metabolism disorder disease_ontology DOID:3146 lipid metabolism disorder An inherited metabolic disorder that involves the creation and degradation of lipids. url:http://en.wikipedia.org/wiki/Lipid_metabolism SNOMEDCT_US_2016_03_01:254783008 UMLS_CUI:C0474966 Unilateral Segmental Cavernous hemangioma of the skin Unilateral segmental cavernous hemangioma (disorder) disease_ontology DOID:3148 dermal unilateral segmental cavernous angioma Unilateral Segmental Cavernous hemangioma of the skin NCI2004_11_17:C4750 Unilateral segmental cavernous hemangioma (disorder) SNOMEDCT_2005_07_31:254783008 MESH:D007636 NCI:C3146 SNOMEDCT_US_2016_03_01:156395005 SNOMEDCT_US_2016_03_01:201061007 SNOMEDCT_US_2016_03_01:201064004 SNOMEDCT_US_2016_03_01:254662007 SNOMEDCT_US_2016_03_01:267858008 SNOMEDCT_US_2016_03_01:58220003 UMLS_CUI:C0022572 disease_ontology DOID:3149 keratoacanthoma NCI:C8964 SNOMEDCT_US_2016_03_01:189829008 SNOMEDCT_US_2016_03_01:189831004 UMLS_CUI:C0476203 Synovial neoplasm (morphologic abnormality) Synovial neoplasm NOS (morphologic abnormality) tumor of Synovium disease_ontology DOID:315 synovium neoplasm Synovial neoplasm (morphologic abnormality) SNOMEDCT_2005_07_31:189829008 Synovial neoplasm NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189831004 tumor of Synovium NCI2004_11_17:C8964 A skin carcinoma that has_material_basis_in squamous cells. NCI:C4819 SNOMEDCT_US_2016_03_01:254651007 UMLS_CUI:C0553723 Epidermoid skin carcinoma disease_ontology squamous cell carcinoma of skin DOID:3151 skin squamous cell carcinoma A skin carcinoma that has_material_basis_in squamous cells. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma Epidermoid skin carcinoma NCI2004_11_17:C4819 ICD10CM:E88.2 MESH:D008068 SNOMEDCT_US_2016_03_01:37095002 SNOMEDCT_US_2016_03_01:402693001 UMLS_CUI:C0023801 disease_ontology DOID:3153 lipomatosis MESH:D010859 NCI:C7582 SNOMEDCT_US_2016_03_01:218358001 SNOMEDCT_US_2016_03_01:254202001 SNOMEDCT_US_2016_03_01:254816001 SNOMEDCT_US_2016_03_01:367520004 SNOMEDCT_US_2016_03_01:48543002 SNOMEDCT_US_2016_03_01:806001 UMLS_CUI:C0022283 Bloch-Siemans syndrome Hypomelanosis of Ito Incontinentia pigmenti achromians syndrome Incontinentia pigmenti syndrome Ito's nevus nevus of Ito disease_ontology DOID:3156 incontinentia pigmenti achromians Bloch-Siemans syndrome SNOMEDCT_2005_07_31:367520004 Hypomelanosis of Ito SNOMEDCT_2005_07_31:254816001 Incontinentia pigmenti achromians syndrome SNOMEDCT_2005_07_31:218358001 Incontinentia pigmenti syndrome SNOMEDCT_2005_07_31:806001 Ito's nevus NCI2004_11_17:C7582 nevus of Ito SNOMEDCT_2005_07_31:48543002 Congenital Pigmented skin nevus Congenital melanocytic naevus of skin Congenital melanocytic nevus (disorder) Congenital melanocytic nevus (morphologic abnormality) Congenital pigmented melanocytic naevus Congenital pigmented melanocytic naevus of skin disease_ontology DOID:3157 congenital melanocytic nevus true Congenital Pigmented skin nevus NCI2004_11_17:C3944 Congenital melanocytic naevus of skin SNOMEDCT_2005_07_31:254203006 Congenital melanocytic nevus (disorder) SNOMEDCT_2005_07_31:84953004 Congenital melanocytic nevus (morphologic abnormality) SNOMEDCT_2005_07_31:400151006 Congenital pigmented melanocytic naevus SNOMEDCT_2005_07_31:398696001 Congenital pigmented melanocytic naevus of skin SNOMEDCT_2005_07_31:398943008 MESH:D006229 UMLS_CUI:C0018567 disease_ontology DOID:3158 hand dermatosis MESH:D010787 SNOMEDCT_US_2016_03_01:22649008 UMLS_CUI:C0031762 Photodermatitis disease_ontology DOID:3159 photosensitivity disease Photodermatitis MTHICD9_2006:692.79 A melanoma that is most commonly located_in sun-exposed skin and results_in_formation_ of spindle-like shaped cells that have a high recurrence rate even with treatment. NCI:C4237 SNOMEDCT_US_2016_03_01:189756002 SNOMEDCT_US_2016_03_01:403923002 SNOMEDCT_US_2016_03_01:68827007 UMLS_CUI:C0334444 Spitzoid malignant melanoma spindle cell malignant melanoma spindle cell melanoma spindle cell melanoma NOS (morphologic abnormality) disease_ontology desmoplastic melanoma DOID:3162 malignant spindle cell melanoma A melanoma that is most commonly located_in sun-exposed skin and results_in_formation_ of spindle-like shaped cells that have a high recurrence rate even with treatment. url:http://www.skincancer.org/ask-the-expert-what-is-spindle-cell-melanoma.html Spitzoid malignant melanoma SNOMEDCT_2005_07_31:403923002 Spitzoid malignant melanoma SNOMEDCT_2005_07_31:68827007 spindle cell malignant melanoma NCI2004_11_17:C4237 spindle cell melanoma MTH:NOCODE spindle cell melanoma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189756002 A sarcoma that is located_in the skin or located_in tissues that line or cover internal organs and that contains long spindle-shaped cells. malignant spindle cell tumor malignant tumor, fusiform cell type (morphologic abnormality) disease_ontology DOID:3163 spindle cell cancer true A sarcoma that is located_in the skin or located_in tissues that line or cover internal organs and that contains long spindle-shaped cells. url:http://www.cancer.gov/dictionary/?CdrID=44506 malignant spindle cell tumor NCI2004_11_17:C27091 malignant tumor, fusiform cell type (morphologic abnormality) SNOMEDCT_2005_07_31:88897007 Hair nevus (disorder) Hairy naevus Hairy naevus NOS Hairy nevus NOS (morphologic abnormality) Nevoid hypertrichosis disease_ontology DOID:3164 Hair nevus true Hair nevus (disorder) SNOMEDCT_2005_07_31:201161009 Hairy naevus SNOMEDCT_2005_07_31:21119008 Hairy naevus NOS SNOMEDCT_2005_07_31:189748000 Hairy nevus NOS (morphologic abnormality) SNOMEDCT_2005_07_31:276499003 Nevoid hypertrichosis NCI2004_11_17:C3074 MESH:D012878 NCI:C3372 SNOMEDCT_US_2016_03_01:126488004 SNOMEDCT_US_2016_03_01:363230005 UMLS_CUI:C0037286 neoplasm of skin (disorder) neoplasm of skin by site skin neoplasm tumor of the skin disease_ontology DOID:3165 skin benign neoplasm neoplasm of skin (disorder) SNOMEDCT_2005_07_31:126488004 neoplasm of skin by site SNOMEDCT_2005_07_31:363230005 skin neoplasm CSP2005:2020-0536 tumor of the skin NCI2004_11_17:C3372 ICD10CM:D72.823 ICD9CM:288.62 MESH:D007955 NCI:C3185 SNOMEDCT_US_2016_03_01:56478004 UMLS_CUI:C0023501 disease_ontology transient myeloproliferative disorder DOID:3166 This is not a disease. A leukemoid reaction is an increase in the white blood cell count, which can mimic leukemia. The reaction is actually due to an infection or another disease and is not a sign of cancer. Blood counts often return to normal when the underlying condition is treated. obsolete leukemoid reaction true A cell type benign neoplasm composed_of epithelial cells located_in the ectodermal or endodermal cells linking body cavities. MESH:D018307 NCI:C3792 SNOMEDCT_US_2016_03_01:118286007 SNOMEDCT_US_2016_03_01:134208005 SNOMEDCT_US_2016_03_01:189560002 UMLS_CUI:C0206720 Epidermoid cell tumor squamous cell tumor (qualifier value) disease_ontology DOID:3168 squamous cell neoplasm A cell type benign neoplasm composed_of epithelial cells located_in the ectodermal or endodermal cells linking body cavities. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma Epidermoid cell tumor NCI2004_11_17:C3792 squamous cell tumor (qualifier value) SNOMEDCT_2005_07_31:134208005 disease_ontology DOID:3169 papillary epithelial neoplasm true papilloma of the respiratory tract disease_ontology DOID:3171 respiratory tract papilloma true papilloma of the respiratory tract NCI2004_11_17:C8295 MESH:D000236 NCI:C79951 SNOMEDCT_US_2016_03_01:189620009 SNOMEDCT_US_2016_03_01:86143001 UMLS_CUI:C0205650 Papillary adenoma NOS (morphologic abnormality) glandular papilloma disease_ontology DOID:3172 papillary adenoma Papillary adenoma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189620009 glandular papilloma NCI2004_11_17:C6880 glandular papilloma SNOMEDCT_2005_07_31:86143001 NCI:C40112 UMLS_CUI:C1517123 disease_ontology DOID:3173 fallopian tube serous papilloma NCI:C4101 SNOMEDCT_US_2016_03_01:48218007 UMLS_CUI:C0334243 disease_ontology DOID:3177 verrucous papilloma NCI:C4614 SNOMEDCT_US_2016_03_01:154613008 SNOMEDCT_US_2016_03_01:189051001 SNOMEDCT_US_2016_03_01:255184001 SNOMEDCT_US_2016_03_01:269639005 UMLS_CUI:C0347390 Cutaneous papilloma cutaneous papilloma papilloma of skin papilloma of skin (disorder) skin papilloma NOS disease_ontology DOID:3178 skin papilloma Cutaneous papilloma NCI2004_11_17:C4614 cutaneous papilloma CSP2005:2020-2747 papilloma of skin SNOMEDCT_2005_07_31:189051001 papilloma of skin (disorder) SNOMEDCT_2005_07_31:255184001 skin papilloma NOS SNOMEDCT_2005_07_31:154613008 skin papilloma NOS SNOMEDCT_2005_07_31:269639005 MESH:D018308 NCI:C3793 SNOMEDCT_US_2016_03_01:104081000119103 UMLS_CUI:C0206721 Inverted papilloma Inverted papilloma, squamous cell disease_ontology DOID:3179 inverted papilloma Inverted papilloma NCI2004_11_17:C3793 Inverted papilloma, squamous cell SNOMEDCT_2005_07_31:90121000 ICD10CM:G12.21 ICD9CM:335.21 MESH:D009134 NCI:C85027 SNOMEDCT_US_2016_03_01:88923002 UMLS_CUI:C0917981 Pure progressive muscular atrophy progressive spinal muscular atrophy disease_ontology DOID:318 progressive muscular atrophy Pure progressive muscular atrophy MTHICD9_2006:335.21 progressive spinal muscular atrophy CSP2005:2057-3620 DOID:3182 MESH:D009837 NCI:C6960 UMLS_CUI:C0028945 UMLS_CUI:C1335110 oligodendroglial neoplasm oligodendroglial tumor disease_ontology DOID:3181 oligodendroglioma oligodendroglial tumor NCI2004_11_17:C6960 MESH:D009837 NCI:C4045 UMLS_CUI:C0280475 pediatric Oligodendroglioma disease_ontology DOID:3183 childhood oligodendroglioma pediatric Oligodendroglioma NCI2004_11_17:C4045 NCI:C4535 SNOMEDCT_US_2016_03_01:254950006 UMLS_CUI:C0346295 Oligodendroglioma of spinal cord (disorder) Well differentiated Spinal Cord Oligodendroglioma disease_ontology DOID:3184 spinal cord oligodendroglioma Oligodendroglioma of spinal cord (disorder) SNOMEDCT_2005_07_31:254950006 Well differentiated Spinal Cord Oligodendroglioma NCI2004_11_17:C4535 A spinal cancer that is located_in the spinal cord and has_material_basis_in glial cells. NCI:C4534 SNOMEDCT_US_2016_03_01:254947008 UMLS_CUI:C0346294 Glial neoplasm Spinal Cord Glial tumor of spinal cord (disorder) glioma of spinal cord (disorder) disease_ontology DOID:3185 spinal cord glioma A spinal cancer that is located_in the spinal cord and has_material_basis_in glial cells. url:http://www.cancer.gov/dictionary?CdrID=45700 Glial neoplasm Spinal Cord NCI2004_11_17:C4534 Glial tumor of spinal cord (disorder) SNOMEDCT_2005_07_31:254946004 glioma of spinal cord (disorder) SNOMEDCT_2005_07_31:254947008 DOID:7355 MESH:D009837 NCI:C4014 NCI:C9376 UMLS_CUI:C0279070 UMLS_CUI:C1332190 adult brain oligodendroglioma grade II adult Oligodendroglial tumor disease_ontology DOID:3186 adult oligodendroglioma grade II adult Oligodendroglial tumor NCI2004_11_17:C4014 A brain glioma that has_material_basis_in oligodendrocytes. NCI:C9377 SNOMEDCT_US_2016_03_01:254940005 UMLS_CUI:C0346286 Oligodendroglioma of brain (disorder) brain Oligodendroglioma disease_ontology DOID:3187 brain oligodendroglioma A brain glioma that has_material_basis_in oligodendrocytes. url:http://www.cancer.gov/dictionary?CdrID=46257 Oligodendroglioma of brain (disorder) SNOMEDCT_2005_07_31:254940005 brain Oligodendroglioma NCI2004_11_17:C9377 ICD10CM:G95.9 ICD9CM:336.9 MESH:D013118 NCI:C97110 SNOMEDCT_US_2016_03_01:155020007 SNOMEDCT_US_2016_03_01:192908002 SNOMEDCT_US_2016_03_01:192913003 SNOMEDCT_US_2016_03_01:267587000 SNOMEDCT_US_2016_03_01:267695005 SNOMEDCT_US_2016_03_01:48522003 SNOMEDCT_US_2016_03_01:95648003 UMLS_CUI:C0037928 disease_ontology myelopathy DOID:319 spinal cord disease A congenital structural myopathy characterized by generally non-progressive muscle weakness of varying severity; certain muscle fibers show the presence of rod-like structures called nemaline bodies. ICD10CM:G71.2 MESH:D017696 OMIM:PS161800 ORDO:607 SNOMEDCT_US_2016_03_01:75072002 UMLS_CUI:C0206157 Nemaline body disease nemaline rod myopathy rod myopathy disease_ontology DOID:3191 Xref MGI. nemaline myopathy A congenital structural myopathy characterized by generally non-progressive muscle weakness of varying severity; certain muscle fibers show the presence of rod-like structures called nemaline bodies. url:http://en.wikipedia.org/wiki/Nemaline_myopathy url:http://ghr.nlm.nih.gov/condition/nemaline-myopathy url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/151/viewAbstract Nemaline body disease MTHICD9_2006:359.0 MESH:D009442 NCI:C3269 SNOMEDCT_US_2016_03_01:189948006 SNOMEDCT_US_2016_03_01:404022001 SNOMEDCT_US_2016_03_01:985004 UMLS_CUI:C0027809 Psammomatous schwannoma schwannoma disease_ontology DOID:3192 neurilemmoma Psammomatous schwannoma SNOMEDCT_2005_07_31:985004 schwannoma NCI2004_11_17:C3269 A peripheral nervous system neoplasm that is located_in the connective tissue surrounding nerves. MESH:D018317 UMLS_CUI:C0751689 neoplasm of the nerve Sheath nerve sheath tumour disease_ontology DOID:3193 peripheral nerve sheath neoplasm A peripheral nervous system neoplasm that is located_in the connective tissue surrounding nerves. url:http://en.wikipedia.org/wiki/Malignant_peripheral_nerve_sheath_tumor neoplasm of the nerve Sheath NCI2004_11_17:C4972 nerve sheath tumour SNOMEDCT_2005_07_31:189946005 A neurilemmoma with a predominantly cellular growth but no Verocay bodies. NCI:C4724 SNOMEDCT_US_2016_03_01:253086004 SNOMEDCT_US_2016_03_01:404026003 SNOMEDCT_US_2016_03_01:985004 UMLS_CUI:C0431124 cellular Neurinoma disease_ontology DOID:3196 cellular schwannoma A neurilemmoma with a predominantly cellular growth but no Verocay bodies. url:http://www.ncbi.nlm.nih.gov/pubmed/2400975 cellular Neurinoma NCI2004_11_17:C4724 NCI:C5434 UMLS_CUI:C1335928 Hypoglossal Schwannoma disease_ontology DOID:3197 schwannoma of twelfth cranial nerve Hypoglossal Schwannoma NCI2004_11_17:C5434 NCI:C5830 SNOMEDCT_US_2016_03_01:126978008 UMLS_CUI:C1263903 neoplasm of hypoglossal nerve (disorder) tumor of Hypoglossal nerve disease_ontology DOID:3198 hypoglossal nerve neoplasm neoplasm of hypoglossal nerve (disorder) SNOMEDCT_2005_07_31:126978008 tumor of Hypoglossal nerve NCI2004_11_17:C5830 NCI:C5413 UMLS_CUI:C1332905 Cerebellopontine Angle Neurinoma disease_ontology DOID:3199 C-P angle neurinoma Cerebellopontine Angle Neurinoma NCI2004_11_17:C5413 ICD10CM:G95.1 ICD9CM:336.1 SNOMEDCT_US_2016_03_01:155018009 SNOMEDCT_US_2016_03_01:192896006 SNOMEDCT_US_2016_03_01:192903006 SNOMEDCT_US_2016_03_01:29774004 UMLS_CUI:C0154685 vascular myelopathies vascular myelopathies (disorder) vascular myelopathy (disorder) vascular myelopathy NOS (disorder) disease_ontology DOID:320 vascular myelopathy vascular myelopathies ICD9CM_2006:336.1 vascular myelopathies SNOMEDCT_2005_07_31:155018009 vascular myelopathies (disorder) SNOMEDCT_2005_07_31:192896006 vascular myelopathy (disorder) SNOMEDCT_2005_07_31:29774004 vascular myelopathy NOS (disorder) SNOMEDCT_2005_07_31:192903006 NCI:C5414 Cerebellopontine angle tumor (disorder) neoplasm of the Cerebellopontine Angle disease_ontology DOID:3200 cerebellopontine angle tumor Cerebellopontine angle tumor (disorder) SNOMEDCT_2005_07_31:126947009 neoplasm of the Cerebellopontine Angle NCI2004_11_17:C5414 NCI:C5421 UMLS_CUI:C1336543 disease_ontology DOID:3201 sympathetic neurilemmoma NCI:C4655 SNOMEDCT_US_2016_03_01:277185000 UMLS_CUI:C0349582 Trigeminal Neurilemmoma Trigeminal schwannoma (disorder) disease_ontology DOID:3202 neurilemmoma of the fifth cranial nerve Trigeminal Neurilemmoma NCI2004_11_17:C4655 Trigeminal schwannoma (disorder) SNOMEDCT_2005_07_31:277185000 NCI:C5321 UMLS_CUI:C4054526 disease_ontology DOID:3203 macrocystic neurilemmoma ICD10CM:Q85.03 ICD9CM:237.73 MESH:C536641 NCI:C6557 OMIM:162091 OMIM:615670 SNOMEDCT_US_2016_03_01:142071000119101 UMLS_CUI:C1335929 Schwannomatosis disease_ontology DOID:3204 Xref MGI. OMIM mapping confirmed by DO. [SN]. neurilemmomatosis NCI:C6970 SNOMEDCT_US_2016_03_01:253088003 SNOMEDCT_US_2016_03_01:404024000 SNOMEDCT_US_2016_03_01:985004 UMLS_CUI:C1306247 Melanotic Schwannoma (morphologic abnormality) Melanotic neurilemmoma (disorder) Pigmented Neurilemmoma Pigmented schwannoma disease_ontology DOID:3205 melanotic neurilemmoma Melanotic Schwannoma (morphologic abnormality) SNOMEDCT_2005_07_31:253088003 Melanotic neurilemmoma (disorder) SNOMEDCT_2005_07_31:404024000 Pigmented Neurilemmoma NCI2004_11_17:C6970 Pigmented schwannoma SNOMEDCT_2005_07_31:985004 NCI:C6969 SNOMEDCT_US_2016_03_01:253087008 SNOMEDCT_US_2016_03_01:404025004 SNOMEDCT_US_2016_03_01:985004 UMLS_CUI:C1370659 Plexiform Neurinoma Plexiform Schwannoma (morphologic abnormality) Plexiform neurilemmoma Plexiform schwannoma disease_ontology DOID:3206 plexiform schwannoma Plexiform Neurinoma NCI2004_11_17:C6969 Plexiform Schwannoma (morphologic abnormality) SNOMEDCT_2005_07_31:253087008 Plexiform neurilemmoma SNOMEDCT_2005_07_31:404025004 Plexiform schwannoma SNOMEDCT_2005_07_31:985004 disease_ontology DOID:3208 sensation disorder true MESH:D016109 NCI:C90598 SNOMEDCT_US_2016_03_01:33662006 SNOMEDCT_US_2016_03_01:399971009 SNOMEDCT_US_2016_03_01:76905008 SNOMEDCT_US_2016_03_01:79855003 UMLS_CUI:C0079301 congenital junctional epidermolysis bullosa (disorder) disease_ontology DOID:3209 Xref MGI. junctional epidermolysis bullosa congenital junctional epidermolysis bullosa (disorder) SNOMEDCT_2005_07_31:79855003 A viral infectious disease that results_in inflammation located_in spinal cord, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, and transmitted_by breast feeding. The infection has_symptom spastic weakness of both legs, has_symptom muscle stiffness, has_symptom sensory disturbance, and has_symptom spasms. ICD10CM:G04.1 MESH:D015493 OMIM:159580 SNOMEDCT_US_2016_03_01:192733005 SNOMEDCT_US_2016_03_01:45129002 SNOMEDCT_US_2016_03_01:714279000 UMLS_CUI:C0030481 HTLV-associated myelopathy Tropical spastic paralysis Tropical spastic paraplegia disease_ontology DOID:321 OMIM mapping confirmed by DO. [LS]. tropical spastic paraparesis A viral infectious disease that results_in inflammation located_in spinal cord, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, and transmitted_by breast feeding. The infection has_symptom spastic weakness of both legs, has_symptom muscle stiffness, has_symptom sensory disturbance, and has_symptom spasms. url:http://en.wikipedia.org/wiki/Tropical_spastic_paraparesis url:http://www.merckmanuals.com/professional/sec16/ch224/ch224k.html Tropical spastic paralysis SNOMEDCT_2005_07_31:45129002 Tropical spastic paraplegia SNOMEDCT_2005_07_31:192733005 A hypomyelinating leukodystrophy characterized by impaired myelin formation, nystagmus, spastic quadriplegia, ataxia, and developmental delay that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22. ICD10CM:E75.2 MESH:D020371 NCI:C75487 OMIM:312080 ORDO:702 SNOMEDCT_US_2016_03_01:64855000 UMLS_CUI:C0205711 HLD1 Leukodystrophy, sudanophilic PMD Pelizaeus Merzbacher brain sclerosis Pelizaeus-Merzbacher brain sclerosis diffuse familial brain sclerosis hypomyelinating leukodystrophy 1 sudanophilic leukodystrophy, Paelizeus-Merzbacher type disease_ontology DOID:3210 Pelizaeus-Merzbacher disease A hypomyelinating leukodystrophy characterized by impaired myelin formation, nystagmus, spastic quadriplegia, ataxia, and developmental delay that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22. url:https://www.ncbi.nlm.nih.gov/pubmed/15627202 url:https://www.ncbi.nlm.nih.gov/pubmed/2773936 url:https://www.ncbi.nlm.nih.gov/pubmed/3476455 Leukodystrophy, sudanophilic MTHICD9_2006:330.0 Pelizaeus Merzbacher brain sclerosis CSP2005:1849-5479 An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function. MESH:D016464 NCI:C61250 SNOMEDCT_US_2016_03_01:23585005 UMLS_CUI:C0085078 disorder of lysosomal enzyme (disorder) inborn lysosomal enzyme disorder lysosomal storage metabolism disorder disease_ontology DOID:3211 lysosomal storage disease An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function. url:http://en.wikipedia.org/wiki/Lysosomal_storage_disease disorder of lysosomal enzyme (disorder) SNOMEDCT_2005_07_31:23585005 inborn lysosomal enzyme disorder CSP2005:1849-5878 disease_ontology DOID:3212 hereditary central nervous system demyelinating disease true MESH:D003711 NCI:C34527 UMLS_CUI:C0011303 demyelinating disorder disease_ontology DOID:3213 demyelinating disease demyelinating disorder NCI2004_11_17:C34527 A Varicellovirus infectious disease that results_in infection in cattle, located_in upper respiratory tract, and located_in genital tract, has_material_basis_in Bovine herpesvirus 1, has_symptom nasal discharge, has_symptom fever, has_symptom abortion, and has_symptom conjunctivitis. Infectious bovine rhinotracheitis (disorder) disease_ontology DOID:3215 infectious bovine rhinotracheitis true A Varicellovirus infectious disease that results_in infection in cattle, located_in upper respiratory tract, and located_in genital tract, has_material_basis_in Bovine herpesvirus 1, has_symptom nasal discharge, has_symptom fever, has_symptom abortion, and has_symptom conjunctivitis. url:http://www.oie.int/eng/normes/mmanual/2008/pdf/2.04.13_IBR_IPV.pdf url:http://www.thecattlesite.com/diseaseinfo/174/infectious-bovine-rhinotracheitis-ibr Infectious bovine rhinotracheitis (disorder) SNOMEDCT_2005_07_31:68686002 NCI:C5787 UMLS_CUI:C1334297 Somatosatinoma of Jejunum jejunal delta cell somatostatin producing tumor disease_ontology DOID:3216 jejunal somatostatinoma Somatosatinoma of Jejunum NCI2004_11_17:C5787 disease_ontology DOID:3217 small intestinal delta cell somatostatin producing tumor true MESH:D007580 NCI:C8401 SNOMEDCT_US_2016_03_01:126834003 SNOMEDCT_US_2016_03_01:254575004 UMLS_CUI:C0022374 Jejunal tumor neoplasm of jejunum tumor of jejunum disease_ontology DOID:3218 jejunal neoplasm Jejunal tumor NCI2004_11_17:C8401 neoplasm of jejunum SNOMEDCT_2005_07_31:126834003 tumor of jejunum SNOMEDCT_2005_07_31:254575004 A spinal cord disease that is characterized by inflammation of the white matter or gray matter of the spinal cord. MESH:D009187 NCI:C26832 SNOMEDCT_US_2016_03_01:192682002 SNOMEDCT_US_2016_03_01:267682000 SNOMEDCT_US_2016_03_01:41370002 UMLS_CUI:C0026975 disease_ontology DOID:322 myelitis A spinal cord disease that is characterized by inflammation of the white matter or gray matter of the spinal cord. url:https://en.wikipedia.org/wiki/Myelitis MESH:D002422 NCI:C121572 SNOMEDCT_US_2016_03_01:155074001 SNOMEDCT_US_2016_03_01:247397004 SNOMEDCT_US_2016_03_01:267705008 SNOMEDCT_US_2016_03_01:408751001 SNOMEDCT_US_2016_03_01:66056001 UMLS_CUI:C0007462 Complex regional pain syndrome, type II (disorder) disease_ontology DOID:3222 causalgia Complex regional pain syndrome, type II (disorder) SNOMEDCT_2005_07_31:408751001 MESH:D020918 SNOMEDCT_US_2016_03_01:128200000 UMLS_CUI:C0458219 Complex regional pain syndromes (disorder) disease_ontology DOID:3223 complex regional pain syndrome Complex regional pain syndromes (disorder) SNOMEDCT_2005_07_31:128200000 ICD10CM:S12.8 MESH:D014133 NCI:C35079 SNOMEDCT_US_2016_03_01:47125007 UMLS_CUI:C0040580 disease_ontology DOID:3225 tracheal disease MESH:D014135 NCI:C78646 SNOMEDCT_US_2016_03_01:11296007 UMLS_CUI:C0040583 Stenosis of trachea disease_ontology DOID:3227 tracheal stenosis Stenosis of trachea SNOMEDCT_2005_07_31:11296007 MESH:D013271 UMLS_CUI:C0038353 stomach dilatation disease_ontology DOID:3229 gastric dilatation stomach dilatation CSP2005:1248-7212 A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder. DOID:2931 HTLV-1 infectious disease HTLV-I infectious disease disease_ontology DOID:323 Human T-lymphotropic virus 1 infectious disease true A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder. url:http://emedicine.medscape.com/article/219285-overview MESH:D006610 UMLS_CUI:C0019537 disease_ontology DOID:3230 high pressure neurological syndrome occupational disorder disease_ontology DOID:3231 occupational disease true occupational disorder CSP2005:2119-9553 A hematologic cancer that has_material_basis_in lymphoma located_in central nervous system. DOID:3233 ICD9CM:200.5 NCI:C9301 SNOMEDCT_US_2016_03_01:190006007 SNOMEDCT_US_2016_03_01:21964009 SNOMEDCT_US_2016_03_01:307649006 SNOMEDCT_US_2016_03_01:69110006 UMLS_CUI:C0280803 UMLS_CUI:C0742472 Microglioma primary CNS lymphoma disease_ontology DOID:3234 central nervous system lymphoma A hematologic cancer that has_material_basis_in lymphoma located_in central nervous system. url:http://www.braintumor.org/CNSLymphoma/ Microglioma SNOMEDCT_2005_07_31:307649006 DOID:2416 spindle cell nevus spindle cell nevus (disorder) spindle cell nevus (morphologic abnormality) spindle cell nevus of Reed disease_ontology DOID:3239 pigmented spindle cell nevus true spindle cell nevus (disorder) SNOMEDCT_2005_07_31:253038006 spindle cell nevus (morphologic abnormality) SNOMEDCT_2005_07_31:810003 A pneumonia that is defined as an acute lung injury after the inhalation of foreign material such as regurgitated acidic gastric contents, petroleum products and laxative oils. This syndrome occurs in patients who have a marked disturbance of consciousness such as that resulting from a drug overdose, seizures, a massive cerebrovascular accident, or the use of anesthesia. Aspiration of gastric contents results in a chemical burn of the tracheobronchial tree and pulmonary parenchyma, causing an intense parenchymal inflammatory reaction. The disesae has_symptom non-productive cough, has_symptom tachypnea, has_symptom bronchospasm, has_symptom bloody sputum, has_symptom frothy sputum, or has_symptom respiratory distress, 2-5 hrs after aspiration. DOID:13016 DOID:13506 ICD10CM:J69.0 MESH:D011015 SNOMEDCT_US_2016_03_01:422588002 SNOMEDCT_US_2016_03_01:47839005 UMLS_CUI:C0032290 Chemical pneumonitis Mendelson's Syndrome disease_ontology DOID:3240 aspiration pneumonitis A pneumonia that is defined as an acute lung injury after the inhalation of foreign material such as regurgitated acidic gastric contents, petroleum products and laxative oils. This syndrome occurs in patients who have a marked disturbance of consciousness such as that resulting from a drug overdose, seizures, a massive cerebrovascular accident, or the use of anesthesia. Aspiration of gastric contents results in a chemical burn of the tracheobronchial tree and pulmonary parenchyma, causing an intense parenchymal inflammatory reaction. The disesae has_symptom non-productive cough, has_symptom tachypnea, has_symptom bronchospasm, has_symptom bloody sputum, has_symptom frothy sputum, or has_symptom respiratory distress, 2-5 hrs after aspiration. url:http://scalpel.stanford.edu/articles/aspiration--NEJM.pdf url:http://www.merck.com/mmpe/sec05/ch052/ch052f.html An aspiration pneumonitis resulting from the aspiration of lipids. It is the result of a foreign body-type reaction to the presence of lipid material within the lung parenchyma. It is caused by inhalation of nasal drops with oil base or cosmetic oil and aspiration of mineral oil when used as a laxative agent. DOID:13015 ICD10CM:J69.1 MESH:D011017 SNOMEDCT_US_2016_03_01:196038008 SNOMEDCT_US_2016_03_01:37629004 SNOMEDCT_US_2016_03_01:416916004 SNOMEDCT_US_2016_03_01:707449006 UMLS_CUI:C0032298 Exogenous lipoid pneumonia Lipoid pneumonitis disease_ontology DOID:3241 lipid pneumonia An aspiration pneumonitis resulting from the aspiration of lipids. It is the result of a foreign body-type reaction to the presence of lipid material within the lung parenchyma. It is caused by inhalation of nasal drops with oil base or cosmetic oil and aspiration of mineral oil when used as a laxative agent. url:http://en.wikipedia.org/wiki/Lipid_pneumonia url:http://www.ima.org.il/imaj/ar06jan-8.pdf Exogenous lipoid pneumonia MTHICD9_2006:507.1 Lipoid pneumonitis SNOMEDCT_2005_07_31:416916004 A rhabdomyosarcoma wherein the mesenchymally-derived malignant cells resemble the primitive developing skeletal muscle of the embryo; it occurs most often in the head and neck area or in the genital or urinary organs. MESH:D018233 NCI:C8971 OMIM:268210 ORDO:99757 SNOMEDCT_US_2016_03_01:14269005 SNOMEDCT_US_2016_03_01:404051002 UMLS_CUI:C0206656 disease_ontology DOID:3246 Xref MGI. embryonal rhabdomyosarcoma A rhabdomyosarcoma wherein the mesenchymally-derived malignant cells resemble the primitive developing skeletal muscle of the embryo; it occurs most often in the head and neck area or in the genital or urinary organs. url:http://en.wikipedia.org/wiki/Embryonal_rhabdomyosarcoma url:http://www.cancer.gov/cancertopics/pdq/treatment/childrhabdomyosarcoma/Patient/page1 A skeletal muscle cancer that arise from skeletal muscle progenitors. MESH:D012208 NCI:C3359 SNOMEDCT_US_2016_03_01:134166003 SNOMEDCT_US_2016_03_01:302847003 SNOMEDCT_US_2016_03_01:30924005 UMLS_CUI:C0035412 disease_ontology DOID:3247 rhabdomyosarcoma A skeletal muscle cancer that arise from skeletal muscle progenitors. url:http://en.wikipedia.org/wiki/Rhabdomyosarcoma NCI:C4258 SNOMEDCT_US_2016_03_01:404054005 SNOMEDCT_US_2016_03_01:77455004 UMLS_CUI:C0334480 Pleomorphic rhabdomyosarcoma (disorder) Pleomorphic rhabdomyosarcoma, adult type anaplastic Rhabdomyosarcoma disease_ontology DOID:3250 pleomorphic rhabdomyosarcoma Pleomorphic rhabdomyosarcoma (disorder) SNOMEDCT_2005_07_31:404054005 Pleomorphic rhabdomyosarcoma, adult type SNOMEDCT_2005_07_31:77455004 anaplastic Rhabdomyosarcoma NCI2004_11_17:C4258 A prostate rhabdomyosarcoma that is most common in children. NCI:C5525 UMLS_CUI:C1335508 Embryonal Rhabdomyosarcoma of the prostate disease_ontology DOID:3251 prostate embryonal rhabdomyosarcoma A prostate rhabdomyosarcoma that is most common in children. url:http://www.google.com/search?hl=en&client=firefox-a&hs=SMK&rls=org.mozilla%3Aen-US%3Aofficial&q=rhabdomyosarcoma+of+prostate&aq=f&aqi=&aql=&oq=&gs_rfai= Embryonal Rhabdomyosarcoma of the prostate NCI2004_11_17:C5525 A rhabdomyosarcoma and sarcoma of prostate that is located_in the prostate. NCI:C5522 UMLS_CUI:C1335518 Rhabdomyosarcoma of the prostate disease_ontology DOID:3252 prostate rhabdomyosarcoma A rhabdomyosarcoma and sarcoma of prostate that is located_in the prostate. url:http://emedicine.medscape.com/article/988803-overview Rhabdomyosarcoma of the prostate NCI2004_11_17:C5522 NCI:C5847 UMLS_CUI:C1333505 Embryonal extrahepatic bile duct Rhabdomyosarcoma disease_ontology DOID:3253 embryonal extrahepatic bile duct rhabdomyosarcoma Embryonal extrahepatic bile duct Rhabdomyosarcoma NCI2004_11_17:C5847 A rhabdomyosarcoma and sarcoma of bile duct that is located_in the bile duct. NCI:C5860 UMLS_CUI:C2064434 rhabdomyosarcoma of the bile duct disease_ontology DOID:3254 bile duct rhabdomyosarcoma A rhabdomyosarcoma and sarcoma of bile duct that is located_in the bile duct. url:http://en.wikipedia.org/wiki/Rhabdomyosarcoma rhabdomyosarcoma of the bile duct NCI2004_11_17:C5860 NCI:C9150 SNOMEDCT_US_2016_03_01:14269005 SNOMEDCT_US_2016_03_01:404052009 SNOMEDCT_US_2016_03_01:405943005 UMLS_CUI:C1306573 Botryoid sarcoma (morphologic abnormality) Botryoid-type Embryonal Rhabdomyosarcoma sarcoma botryoides disease_ontology DOID:3255 botryoid rhabdomyosarcoma Botryoid sarcoma (morphologic abnormality) SNOMEDCT_2005_07_31:405943005 Botryoid-type Embryonal Rhabdomyosarcoma NCI2004_11_17:C9150 sarcoma botryoides SNOMEDCT_2005_07_31:14269005 sarcoma botryoides SNOMEDCT_2005_07_31:404052009 pediatric Embryonal Rhabdomyosarcoma disease_ontology DOID:3256 embryonal childhood rhabdomyosarcoma true pediatric Embryonal Rhabdomyosarcoma NCI2004_11_17:C7957 disease_ontology DOID:3257 pediatric rhabdomyosarcoma true NCI:C6246 UMLS_CUI:C1335127 Embryonal Rhabdomyosarcoma of the orbit disease_ontology DOID:3258 orbit embryonal rhabdomyosarcoma Embryonal Rhabdomyosarcoma of the orbit NCI2004_11_17:C6246 MESH:C537605 NCI:C4543 SNOMEDCT_US_2016_03_01:254994000 UMLS_CUI:C0346347 Rhabdomyosarcoma of orbit (disorder) Rhabdomyosarcoma of the orbit disease_ontology DOID:3259 orbit rhabdomyosarcoma Rhabdomyosarcoma of orbit (disorder) SNOMEDCT_2005_07_31:254994000 Rhabdomyosarcoma of the orbit NCI2004_11_17:C4543 A vascular disease that is characterized by a restriction in blood supply to tissues. MESH:D007511 MESH:D054058 NCI:C34738 SNOMEDCT_US_2016_03_01:52674009 UMLS_CUI:C0022116 disease_ontology DOID:326 ischemia A vascular disease that is characterized by a restriction in blood supply to tissues. url:http://en.wikipedia.org/wiki/Ischemia NCI:C6519 SNOMEDCT_US_2016_03_01:128749008 SNOMEDCT_US_2016_03_01:404055006 UMLS_CUI:C1266134 spindle cell rhabdomyosarcoma (disorder) spindle cell rhabdomyosarcoma (morphologic abnormality) disease_ontology DOID:3260 spindle cell rhabdomyosarcoma spindle cell rhabdomyosarcoma (disorder) SNOMEDCT_2005_07_31:404055006 spindle cell rhabdomyosarcoma (morphologic abnormality) SNOMEDCT_2005_07_31:128749008 MESH:D007589 OMIM:147060 UMLS_CUI:C1968689 UMLS_CUI:C2936739 Job syndrome hyperimmunoglobulin E syndrome disease_ontology DOID:3261 OMIM mapping confirmed by DO. [SN]. Job's syndrome hyperimmunoglobulin E syndrome SNOMEDCT_2005_07_31:191009009 A primary immunodeficiency disease where phagocytes have a diminished ability to fight bacterial infection. MESH:D010585 UMLS_CUI:C0031306 phagocytic dysfunction disease_ontology DOID:3262 phagocyte bactericidal dysfunction A primary immunodeficiency disease where phagocytes have a diminished ability to fight bacterial infection. url:http://en.wikipedia.org/wiki/Phagocyte_bactericidal_dysfunction phagocytic dysfunction CSP2005:0427-7579 ICD10CM:E70.39 MESH:D016116 NCI:C85009 OMIM:172800 SNOMEDCT_US_2016_03_01:6479008 UMLS_CUI:C0080024 PIEBALD TRAIT Partial albinism (disorder) disease_ontology DOID:3263 OMIM mapping confirmed by DO. [SN]. piebaldism Partial albinism (disorder) SNOMEDCT_2005_07_31:6479008 A leukemia that is in between acute and chronic leukemia and is characterized by a moderate duration or severity. ICD9CM:208.2 SNOMEDCT_US_2016_03_01:154601003 SNOMEDCT_US_2016_03_01:188765000 SNOMEDCT_US_2016_03_01:190026006 SNOMEDCT_US_2016_03_01:302855005 SNOMEDCT_US_2016_03_01:49432002 SNOMEDCT_US_2016_03_01:95272003 UMLS_CUI:C0153924 disease_ontology DOID:3264 subacute leukemia A leukemia that is in between acute and chronic leukemia and is characterized by a moderate duration or severity. url:http://www.wrongdiagnosis.com/medical/subacute.htm A phagocyte bactericidal dysfunction characterized by an inability to resist repeated infectious diseases and a tendency to develop chronic inflammation. Life-threatening recurrent fungal and bacterial infections affecting the skin, lungs, and bones may occur along with swollen areas of inflamed tissues known as granulomas that can be widely distributed. ICD10CM:D71 MESH:D006105 NCI:C26788 OMIM:138990 OMIM:233690 OMIM:233700 OMIM:233710 OMIM:306400 OMIM:613960 ORDO:379 SNOMEDCT_US_2016_03_01:11210002 SNOMEDCT_US_2016_03_01:191352003 SNOMEDCT_US_2016_03_01:191354002 SNOMEDCT_US_2016_03_01:387759001 UMLS_CUI:C0018203 Bridges-Good syndrome CGD Congenital dysphagocytosis Quie syndrome disease_ontology DOID:3265 Xref MGI. OMIM mapping confirmed by DO. [SN]. chronic granulomatous disease A phagocyte bactericidal dysfunction characterized by an inability to resist repeated infectious diseases and a tendency to develop chronic inflammation. Life-threatening recurrent fungal and bacterial infections affecting the skin, lungs, and bones may occur along with swollen areas of inflamed tissues known as granulomas that can be widely distributed. url:http://en.wikipedia.org/wiki/Chronic_granulomatous_disease url:http://ghr.nlm.nih.gov/condition/chronic-granulomatous-disease url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/682/viewAbstractare-diseases/byID/682/viewAbstract CGD NCI2004_11_17:C26788 Congenital dysphagocytosis MTHICD9_2006:288.1 NCI:C4512 SNOMEDCT_US_2016_03_01:119422004 UMLS_CUI:C0346172 Ovarian mucinous Cystadenoma mucinous cystadenoma of ovary (disorder) disease_ontology DOID:3267 mucinous ovarian cystadenoma Ovarian mucinous Cystadenoma NCI2004_11_17:C4512 mucinous cystadenoma of ovary (disorder) SNOMEDCT_2005_07_31:119422004 NCI:C4060 SNOMEDCT_US_2016_03_01:198297004 UMLS_CUI:C0346169 Cystoma Serosum simplex simple cystoma of ovary simple cystoma of the ovary (disorder) disease_ontology DOID:3269 ovarian cystadenoma Cystoma Serosum simplex NCI2004_11_17:C4060 simple cystoma of ovary MTHICD9_2006:620.2 simple cystoma of the ovary (disorder) SNOMEDCT_2005_07_31:198297004 MESH:D013595 NCI:C85179 SNOMEDCT_US_2016_03_01:111496009 SNOMEDCT_US_2016_03_01:155020007 SNOMEDCT_US_2016_03_01:267695005 UMLS_CUI:C0039144 disease_ontology DOID:327 syringomyelia DOID:8101 DOID:8112 NCI:C8365 SNOMEDCT_US_2016_03_01:35813005 UMLS_CUI:C0334056 Fibrocystic change, proliferative type with atypia (morphologic abnormality) Fibrocystic disease, Proliferative type with Atypia Proliferating Lesion of breast without Atypia Proliferating Lesion of the breast without Atypia Proliferative Fibrocystic Change disease_ontology DOID:3274 proliferative type fibrocystic change of breast Fibrocystic change, proliferative type with atypia (morphologic abnormality) SNOMEDCT_2005_07_31:35813005 Proliferating Lesion of the breast without Atypia NCI2004_11_17:C5204 Proliferative Fibrocystic Change NCI2004_11_17:C6940 A thymus cancer that derives_from epithelial cells located_in the thymus. The tumor cells in a thymoma look similar to the normal cells of the thymus, grow slowly, and rarely spread beyond the thymus. MESH:D013945 NCI:C3411 SNOMEDCT_US_2016_03_01:128856005 SNOMEDCT_US_2016_03_01:189721001 SNOMEDCT_US_2016_03_01:444231005 UMLS_CUI:C0040100 disease_ontology DOID:3275 thymoma A thymus cancer that derives_from epithelial cells located_in the thymus. The tumor cells in a thymoma look similar to the normal cells of the thymus, grow slowly, and rarely spread beyond the thymus. url:http://cancergenome.nih.gov/cancersselected/Thymoma url:http://en.wikipedia.org/wiki/Thymoma url:http://www.cancer.gov/cancertopics/pdq/treatment/thymoma/patient/page1 Thymic Epithelium neoplasm Thymic epithelial neoplasm (morphologic abnormality) disease_ontology epithelial neoplasm of thymus DOID:3276 thymus epithelial cancer true Thymic Epithelium neoplasm NCI2004_11_17:C6450 Thymic epithelial neoplasm (morphologic abnormality) SNOMEDCT_2005_07_31:128621008 An immune system cancer located_in the thymus. DOID:10143 ICD10CM:C37 ICD9CM:164.0 MESH:D013953 NCI:C4962 SNOMEDCT_US_2016_03_01:363434003 SNOMEDCT_US_2016_03_01:94096009 UMLS_CUI:C0751552 Thymic tumor neoplasm of thymus (disorder) thymic neoplasm disease_ontology DOID:3277 thymus cancer An immune system cancer located_in the thymus. url:http://en.wikipedia.org/wiki/Thymus Thymic tumor NCI2004_11_17:C3412 neoplasm of thymus (disorder) SNOMEDCT_2005_07_31:127231009 thymic neoplasm CSP2005:2004-8826 NCI:C7386 UMLS_CUI:C1333383 disease_ontology DOID:3278 encapsulated thymoma NCI:C6454 SNOMEDCT_US_2016_03_01:128707003 UMLS_CUI:C1266091 Medullary Thymoma Thymoma, medullary disease_ontology DOID:3279 spindle cell thymoma Medullary Thymoma NCI2004_11_17:C6454 Thymoma, medullary SNOMEDCT_2005_07_31:128707003 NCI:C6885 SNOMEDCT_US_2016_03_01:128709000 UMLS_CUI:C1266092 Thymoma, mixed type disease_ontology DOID:3280 mixed type thymoma Thymoma, mixed type SNOMEDCT_2005_07_31:128709000 disease_ontology DOID:3281 combined thymoma NCI:C7114 UMLS_CUI:C1328042 epithelioid Thymoma disease_ontology DOID:3282 dendritic cell thymoma epithelioid Thymoma NCI2004_11_17:C7114 NCI:C6453 NCI:C7904 UMLS_CUI:C0278846 Infiltrating Thymoma Thymoma malignant Invasive disease_ontology DOID:3283 invasive malignant thymoma Infiltrating Thymoma NCI2004_11_17:C6453 Thymoma malignant Invasive NCI2004_11_17:C7904 A thymus cancer that derives_from epithelial cells. The tumor cells in a thymic carcinoma look very different from the normal cells of the thymus, grow more quickly, and have usually spread to other parts of the body when the cancer is found. MESH:D013945 NCI:C7612 SNOMEDCT_US_2016_03_01:128717008 SNOMEDCT_US_2016_03_01:15949004 SNOMEDCT_US_2016_03_01:444596001 UMLS_CUI:C0205969 Thymic carcinoma Thymoma, malignant (morphologic abnormality) malignant Thymoma disease_ontology DOID:3284 thymic carcinoma A thymus cancer that derives_from epithelial cells. The tumor cells in a thymic carcinoma look very different from the normal cells of the thymus, grow more quickly, and have usually spread to other parts of the body when the cancer is found. url:http://www.cancer.gov/cancertopics/pdq/treatment/thymoma/patient/page1 Thymic carcinoma SNOMEDCT_2005_07_31:128717008 Thymoma, malignant (morphologic abnormality) SNOMEDCT_2005_07_31:15949004 malignant Thymoma NCI2004_11_17:C7612 A viral infectious disease that results_in infection of primates, rodents and humans, located_in skin, has_material_basis_in Monkeypox virus, which is transmitted_by contact with the animal's blood, body fluids, rash, or with the body fluids of a sick person, transmitted_by fomites, and transmitted_by respiratory droplets. The infection has_symptom fever, has_symptom muscle ache, has_symptom headache, and has_symptom lymphadenopathy. ICD10CM:B04 ICD9CM:059.01 MESH:D045908 SNOMEDCT_US_2016_03_01:186582008 SNOMEDCT_US_2016_03_01:240466002 SNOMEDCT_US_2016_03_01:25157001 SNOMEDCT_US_2016_03_01:359811007 SNOMEDCT_US_2016_03_01:359814004 UMLS_CUI:C0276180 disease_ontology DOID:3292 monkeypox A viral infectious disease that results_in infection of primates, rodents and humans, located_in skin, has_material_basis_in Monkeypox virus, which is transmitted_by contact with the animal's blood, body fluids, rash, or with the body fluids of a sick person, transmitted_by fomites, and transmitted_by respiratory droplets. The infection has_symptom fever, has_symptom muscle ache, has_symptom headache, and has_symptom lymphadenopathy. url:http://www.cdc.gov/ncidod/monkeypox/factsheet2.htm A viral infectious disease that results_in infection located_in skin and located_in mucous membrane of cattle, has_material_basis_in Lumpy skin disease virus, which results_in_formation_of nodules on the skin particularly on the head, neck, udder, genitalia, perineum and legs, has_symptom fever, and has_symptom lymphadenopathy. disease_ontology DOID:3293 lumpy skin disease true A viral infectious disease that results_in infection located_in skin and located_in mucous membrane of cattle, has_material_basis_in Lumpy skin disease virus, which results_in_formation_of nodules on the skin particularly on the head, neck, udder, genitalia, perineum and legs, has_symptom fever, and has_symptom lymphadenopathy. url:http://www.cfsph.iastate.edu/Factsheets/pdfs/lumpy_skin_disease.pdf A viral infectious disease results_in infection located_in skin, or located_in mucous membranes of the mouth, oesophagus, larynx or trachea of birds, has_material_basis_in Fowlpox virus, has_symptom lesions on the skin, has_symptom diphtheritic lesions in the upper parts of the digestive and respiratory tracts. disease_ontology DOID:3295 fowlpox true A viral infectious disease results_in infection located_in skin, or located_in mucous membranes of the mouth, oesophagus, larynx or trachea of birds, has_material_basis_in Fowlpox virus, has_symptom lesions on the skin, has_symptom diphtheritic lesions in the upper parts of the digestive and respiratory tracts. url:http://www.oie.int/eng/normes/mmanual/2008/pdf/2.03.10_FOWLPOX.pdf A viral infectious disease that results_in infection located in skin of mice, has_material_basis_in Ectromelia virus. The infection has_symptom swelling of the feet, has_symptom gangrene, and has_symptom lesions on the skin. Mousepox (disorder) disease_ontology DOID:3296 infectious ectromelia true A viral infectious disease that results_in infection located in skin of mice, has_material_basis_in Ectromelia virus. The infection has_symptom swelling of the feet, has_symptom gangrene, and has_symptom lesions on the skin. url:http://books.google.com/books?id=I62ZO_-4cjwC&pg=PA186&lpg url:http://www.virologyj.com/content/6/1/151 Mousepox (disorder) SNOMEDCT_2005_07_31:73233006 A viral infectious disease that results_in infection located_in eyes or located_in upper respiratory tract of domestic rabbits, has_material_basis_in Myxoma virus, which is transmitted_by mosquitos, transmitted_by biting flies or transmitted_by direct contact. The infection has_symptom conjunctivitis with a milky discharge from the inflamed eye and has_symptom breathing difficulties. disease_ontology DOID:3297 infectious myxomatosis true A viral infectious disease that results_in infection located_in eyes or located_in upper respiratory tract of domestic rabbits, has_material_basis_in Myxoma virus, which is transmitted_by mosquitos, transmitted_by biting flies or transmitted_by direct contact. The infection has_symptom conjunctivitis with a milky discharge from the inflamed eye and has_symptom breathing difficulties. url:http://books.google.com/books?id=Qz-3V6_TatUC&pg=PA177&lpg=PA177&dq#v=onepage&q&f=false A viral infectious disease that results_in infection, located_in skin, has_material_basis_in Vaccinia virus, which is used as a live vaccine against smallpox. The virus is transmitted_by contact with the vaccination site before it has healed, or transmitted_by fomites that have been contaminated with live virus from the vaccination site. The infection has_symptom rash, has_symptom fever, and has_symptom body aches. MESH:D014615 SNOMEDCT_US_2016_03_01:111852003 UMLS_CUI:C0042214 disease_ontology DOID:3298 vaccinia A viral infectious disease that results_in infection, located_in skin, has_material_basis_in Vaccinia virus, which is used as a live vaccine against smallpox. The virus is transmitted_by contact with the vaccination site before it has healed, or transmitted_by fomites that have been contaminated with live virus from the vaccination site. The infection has_symptom rash, has_symptom fever, and has_symptom body aches. url:http://en.wikipedia.org/wiki/Vaccinia url:http://www.bt.cdc.gov/agent/smallpox/vaccination/live-virus.asp Pasteurella pseudotuberculosis infection Pseudotuberculosis Pseudotuberculosis (disorder) disease_ontology DOID:3299 Yersinia pseudotuberculosis infectious disease true Pasteurella pseudotuberculosis infection MTHICD9_2006:027.2 Pseudotuberculosis SNOMEDCT_2005_07_31:186328008 Pseudotuberculosis (disorder) SNOMEDCT_2005_07_31:36753006 Yersiniosis (disorder) Yersiniosis [Ambiguous] disease_ontology DOID:3300 Yersinia infectious disease true Yersiniosis (disorder) SNOMEDCT_2005_07_31:83436008 Yersiniosis [Ambiguous] SNOMEDCT_2005_07_31:240359002 A cell type benign neoplasm that is composed_of a mixture of gonadal elements. MESH:D018238 NCI:C3754 OMIM:424500 SNOMEDCT_US_2016_03_01:74751003 UMLS_CUI:C0206661 disease_ontology DOID:3301 OMIM mapping confirmed by DO. [SN]. gonadoblastoma A cell type benign neoplasm that is composed_of a mixture of gonadal elements. url:http://en.wikipedia.org/wiki/Gonadoblastoma A notochordal cancer that derives_from cellular remnants of the notochord. MESH:D002817 NCI:C2947 OMIM:215400 SNOMEDCT_US_2016_03_01:50007008 UMLS_CUI:C0008487 notochordoma disease_ontology DOID:3302 OMIM mapping confirmed by DO. [SN]. chordoma A notochordal cancer that derives_from cellular remnants of the notochord. url:http://en.wikipedia.org/wiki/Chordoma notochordoma CSP2005:2000-4323 An embryonal cancer and bone cancer and mesenchymal cell neoplasm that is located_in the notochord. NCI:C7063 UMLS_CUI:C1335069 disease_ontology notochordal tumor DOID:3303 notochordal cancer An embryonal cancer and bone cancer and mesenchymal cell neoplasm that is located_in the notochord. url:http://en.wikipedia.org/wiki/Notochord A germ cell cancer that lacks histologic differentiation. It usually refers to a tumor in the brain. MESH:D018237 NCI:C3753 SNOMEDCT_US_2016_03_01:154603000 SNOMEDCT_US_2016_03_01:28307001 UMLS_CUI:C0206660 disease_ontology DOID:3304 germinoma A germ cell cancer that lacks histologic differentiation. It usually refers to a tumor in the brain. url:http://en.wikipedia.org/wiki/Germinoma A mixed germ cell tumor that is a mixture of teratoma with embryonal carcinoma, or with choriocarcinoma, or with both. MESH:D018243 NCI:C3756 SNOMEDCT_US_2016_03_01:67830002 UMLS_CUI:C0206664 Teratocarcinoma (morphologic abnormality) mixed Embryonal carcinoma and teratoma disease_ontology DOID:3305 teratocarcinoma A mixed germ cell tumor that is a mixture of teratoma with embryonal carcinoma, or with choriocarcinoma, or with both. url:http://en.wikipedia.org/wiki/Germ_cell_tumor#Mixed Teratocarcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:67830002 mixed Embryonal carcinoma and teratoma NCI2004_11_17:C3756 A germ cell cancer that occurs in many forms. NCI:C4290 NCI:C9010 SNOMEDCT_US_2016_03_01:189853002 SNOMEDCT_US_2016_03_01:32844007 UMLS_CUI:C0334524 mixed germ cell neoplasm mixed germ cell tumour mixed teratoma and Seminoma mixed teratoma and seminoma disease_ontology DOID:3306 mixed germ cell cancer A germ cell cancer that occurs in many forms. url:http://en.wikipedia.org/wiki/Germ_cell_tumor#Mixed mixed germ cell neoplasm NCI2004_11_17:C4290 mixed germ cell tumour SNOMEDCT_2005_07_31:189853002 mixed teratoma and Seminoma NCI2004_11_17:C9010 mixed teratoma and seminoma SNOMEDCT_2005_07_31:32844007 A germ cell and embryonal cancer that is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers. MESH:D013724 NCI:C3403 SNOMEDCT_US_2016_03_01:189844009 SNOMEDCT_US_2016_03_01:189846006 SNOMEDCT_US_2016_03_01:189848007 SNOMEDCT_US_2016_03_01:55818009 UMLS_CUI:C0039538 Teratomas (morphologic abnormality) disease_ontology DOID:3307 teratoma A germ cell and embryonal cancer that is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers. url:http://en.wikipedia.org/wiki/Teratoma Teratomas (morphologic abnormality) SNOMEDCT_2005_07_31:189844009 An embryonal cancer that is a type of germ cell tumour that is located_in the ovaries or located_in the testes. DOID:5676 MESH:D018236 NCI:C3752 NCI:C8880 SNOMEDCT_US_2016_03_01:189843003 SNOMEDCT_US_2016_03_01:28047004 UMLS_CUI:C0206659 UMLS_CUI:C0855159 primary extragonadal embryonal carcinoma disease_ontology DOID:3308 embryonal carcinoma An embryonal cancer that is a type of germ cell tumour that is located_in the ovaries or located_in the testes. url:http://en.wikipedia.org/wiki/Embryonal_carcinoma MESH:D009450 NCI:C111963 SNOMEDCT_US_2016_03_01:156383005 SNOMEDCT_US_2016_03_01:267854005 UMLS_CUI:C0027822 disease_ontology DOID:3309 neurodermatitis A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system. ICD10CM:G96.9 MESH:D002493 NCI:C2934 SNOMEDCT_US_2016_03_01:138748005 SNOMEDCT_US_2016_03_01:154981003 SNOMEDCT_US_2016_03_01:155049004 SNOMEDCT_US_2016_03_01:155059003 SNOMEDCT_US_2016_03_01:192641002 SNOMEDCT_US_2016_03_01:193076009 SNOMEDCT_US_2016_03_01:194566008 SNOMEDCT_US_2016_03_01:23853001 SNOMEDCT_US_2016_03_01:267144009 SNOMEDCT_US_2016_03_01:267679005 SNOMEDCT_US_2016_03_01:267700003 SNOMEDCT_US_2016_03_01:267702006 SNOMEDCT_US_2016_03_01:275539005 UMLS_CUI:C0007682 disease_ontology DOID:331 central nervous system disease A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system. url:http://en.wikipedia.org/wiki/Central_nervous_system_disease A dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking. EFO:0000274 ICD10CM:L20 ICD10CM:L20.81 ICD10CM:L20.9 MESH:D003876 OMIM:603165 OMIM:PS603165 SNOMEDCT_US_2016_03_01:156331003 SNOMEDCT_US_2016_03_01:200772001 SNOMEDCT_US_2016_03_01:200775004 SNOMEDCT_US_2016_03_01:200779005 SNOMEDCT_US_2016_03_01:24079001 UMLS_CUI:C0011615 Allergic (intrinsic) eczema (disorder) Atopic dermatitis Atopic dermatitis (disorder) Atopic dermatitis NOS (disorder) Atopic neurodermatitis (disorder) Besnier's prurigo Besnier's prurigo (disorder) allergic dermatitis atopic eczema disease_ontology DOID:3310 Xref MGI. OMIM mapping confirmed by DO. [SN]. atopic dermatitis A dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking. ls:IEDB url:http://en.wikipedia.org/wiki/Atopic_dermatitis Allergic (intrinsic) eczema (disorder) SNOMEDCT_2005_07_31:200772001 Atopic dermatitis SNOMEDCT_2005_07_31:156331003 Atopic dermatitis (disorder) SNOMEDCT_2005_07_31:24079001 Atopic dermatitis NOS (disorder) SNOMEDCT_2005_07_31:200779005 Atopic neurodermatitis (disorder) SNOMEDCT_2005_07_31:200775004 Besnier's prurigo MTHICD9_2006:691.8 Besnier's prurigo (disorder) SNOMEDCT_2005_07_31:200773006 allergic dermatitis CSP2005:2716-6917 allergic dermatitis CSP2005:2716-6989 A mood disorder that involves alternating periods of mania and depression. DOID:3311 DOID:9554 DOID:9555 EFO:0000289 ICD10CM:F31 ICD10CM:F31.9 ICD9CM:296.40 ICD9CM:296.60 ICD9CM:296.80 MESH:D001714 NCI:C34423 NCI:C34424 NCI:C34805 SNOMEDCT_US_2016_03_01:13746004 SNOMEDCT_US_2016_03_01:154871001 SNOMEDCT_US_2016_03_01:16506000 SNOMEDCT_US_2016_03_01:191627008 SNOMEDCT_US_2016_03_01:191646009 SNOMEDCT_US_2016_03_01:191647000 SNOMEDCT_US_2016_03_01:191654006 SNOMEDCT_US_2016_03_01:192355004 SNOMEDCT_US_2016_03_01:192365005 SNOMEDCT_US_2016_03_01:268749008 SNOMEDCT_US_2016_03_01:68569003 UMLS_CUI:C0005586 UMLS_CUI:C0005587 UMLS_CUI:C0024713 UMLS_CUI:C0236780 Manic Bipolar Affective disorder Manic Depressive disorder Manic bipolar I disorder bipolar depression bipolar disorder manic phase manic depression manic disorder mixed bipolar disorder disease_ontology Depressive-manic psych. DOID:3312 bipolar disorder A mood disorder that involves alternating periods of mania and depression. url:http://en.wikipedia.org/wiki/Mood_disorder Manic Bipolar Affective disorder NCI2004_11_17:C34805 Manic Depressive disorder NCI2004_11_17:C34423 Manic bipolar I disorder SNOMEDCT_2005_07_31:68569003 bipolar depression CSP2005:2483-6684 bipolar disorder manic phase CSP2005:2483-6691 Depressive-manic psych. SNOMEDCT_2005_07_31:154871001 A cell type benign neoplasm that from perivascular epithelioid cells. MESH:D018207 NCI:C3734 SNOMEDCT_US_2016_03_01:19929002 UMLS_CUI:C0206633 Angiomyolipoma (morphologic abnormality) disease_ontology DOID:3314 angiomyolipoma A cell type benign neoplasm that from perivascular epithelioid cells. url:http://en.wikipedia.org/wiki/Angiomyolipoma url:http:www.rsroc.org.tw/db/ejournal/article/V33/N4/330405.pdf Angiomyolipoma (morphologic abnormality) SNOMEDCT_2005_07_31:19929002 A cell type benign neoplasm that is composed of lipocytes. DOID:3154 DOID:9291 ICD10CM:D17 ICD10CM:D17.9 ICD9CM:214 ICD9CM:214.9 MESH:D008067 MESH:D018205 NCI:C3192 NCI:C4248 NCI:C4502 OMIM:151900 SNOMEDCT_US_2016_03_01:115227001 SNOMEDCT_US_2016_03_01:154612003 SNOMEDCT_US_2016_03_01:189018005 SNOMEDCT_US_2016_03_01:189776008 SNOMEDCT_US_2016_03_01:189785008 SNOMEDCT_US_2016_03_01:254827004 SNOMEDCT_US_2016_03_01:254830006 SNOMEDCT_US_2016_03_01:254831005 SNOMEDCT_US_2016_03_01:46720004 SNOMEDCT_US_2016_03_01:93163002 UMLS_CUI:C0023798 UMLS_CUI:C0206631 UMLS_CUI:C0346118 LIPOMATOSIS, FAMILIAL MULTIPLE Lipomatous neoplasm (morphologic abnormality) Lipomatous tumor benign lipomatous tumor benign tumor of Adipose tissue multiple lipomatosis tumor of adipose tissue (disorder) disease_ontology DOID:3315 OMIM mapping confirmed by DO. [SN]. lipoma A cell type benign neoplasm that is composed of lipocytes. url:http://en.wikipedia.org/wiki/Benign_tumor Lipomatous neoplasm (morphologic abnormality) SNOMEDCT_2005_07_31:115227001 Lipomatous tumor NCI2004_11_17:C4248 benign tumor of Adipose tissue NCI2004_11_17:C4502 tumor of adipose tissue (disorder) SNOMEDCT_2005_07_31:254831005 DOID:5234 NCI:C6528 NCI:C6530 UMLS_CUI:C1334611 UMLS_CUI:C1335392 malignant perivascular cancer disease_ontology DOID:3316 perivascular tumor NCI:C27485 UMLS_CUI:C1333962 disease_ontology DOID:3317 hepatic angiomyolipoma NCI:C38151 UMLS_CUI:C1333426 disease_ontology DOID:3318 epithelioid type angiomyolipoma DOID:3682 NCI:C38153 SNOMEDCT_US_2016_03_01:277844007 UMLS_CUI:C0349649 lung lymphangioleiomyomatosis lymphangiomyomatosis pulmonary lymphangioleiomyomatosis disease_ontology DOID:3319 lymphangioleiomyomatosis lymphangiomyomatosis CSP2005:4009-0064 pulmonary lymphangioleiomyomatosis SNOMEDCT_2005_07_31:277844007 A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing. EFO:0000253 ICD10CM:G12.21 ICD9CM:335.20 KEGG:05014 MESH:D000690 NCI:C34373 OMIM:PS105400 ORDO:803 SNOMEDCT_US_2016_03_01:86044005 UMLS_CUI:C0002736 ALS Lou Gehrig's disease motor neuron disease, bulbar disease_ontology DOID:332 amyotrophic lateral sclerosis A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://www.ninds.nih.gov/disorders/amyotrophiclateralsclerosis/detail_ALS.htm ALS NCI2004_11_17:C34373 motor neuron disease, bulbar MTHICD9_2006:335.20 ICD10CM:E75.02 MESH:D013661 NCI:C85184 OMIM:272800 SNOMEDCT_US_2016_03_01:111385000 UMLS_CUI:C0039373 Tay-Sachs disease (disorder) disease, Tay-Sachs hexosaminidase A deficiency disease_ontology DOID:3320 OMIM mapping confirmed by DO. [SN]. Tay-Sachs disease Tay-Sachs disease (disorder) SNOMEDCT_2005_07_31:111385000 disease, Tay-Sachs MTHICD9_2006:330.1 hexosaminidase A deficiency CSP2005:1849-8690 ICD10CM:E75.0 ICD10CM:E75.00 MESH:D020143 SNOMEDCT_US_2016_03_01:33316007 UMLS_CUI:C0268274 GM>2< gangliosidosis (disorder) disease_ontology DOID:3321 gangliosidosis GM2 GM>2< gangliosidosis (disorder) SNOMEDCT_2005_07_31:33316007 ICD10CM:E75.19 MESH:D016537 NCI:C84739 OMIM:230500 OMIM:230600 OMIM:230650 SNOMEDCT_US_2016_03_01:238025006 SNOMEDCT_US_2016_03_01:32917001 UMLS_CUI:C0085131 Beta-galactosidase deficiency GM1 gangliosidosis (disorder) GM>1< gangliosidosis (disorder) Landing syndrome beta-Galactosidase deficiency deficiency of beta-galactosidase (disorder) disease_ontology DOID:3322 OMIM mapping confirmed by DO. [SN]. gangliosidosis GM1 Beta-galactosidase deficiency SNOMEDCT_2005_07_31:238044004 GM1 gangliosidosis (disorder) SNOMEDCT_2005_07_31:238025006 GM>1< gangliosidosis (disorder) SNOMEDCT_2005_07_31:32917001 Landing syndrome CSP2005:1849-8633 beta-Galactosidase deficiency SNOMEDCT_2005_07_31:33164006 deficiency of beta-galactosidase (disorder) SNOMEDCT_2005_07_31:124465002 ICD10CM:E75.01 MESH:D012497 NCI:C85052 OMIM:268800 SNOMEDCT_US_2016_03_01:23849003 UMLS_CUI:C0036161 Sandhoff Jatzkewitz disease disease_ontology DOID:3323 OMIM mapping confirmed by DO. [SN]. Sandhoff disease Sandhoff Jatzkewitz disease CSP2005:1849-8747 A cognitive disorder that involves an excessive, irrational dread of everyday situations. EFO:0004247 ICD10CM:F30-F39 ICD10CM:F39 MESH:D019964 NCI:C92200 SNOMEDCT_US_2016_03_01:192348001 SNOMEDCT_US_2016_03_01:192391006 SNOMEDCT_US_2016_03_01:268713007 SNOMEDCT_US_2016_03_01:46206005 SNOMEDCT_US_2016_03_01:74421008 UMLS_CUI:C0525045 episodic mood disorder disease_ontology DOID:3324 Updating outdated UMLS CUI. mood disorder A cognitive disorder that involves an excessive, irrational dread of everyday situations. url:http://www.nimh.nih.gov/health/topics/anxiety-disorders/index.shtml MESH:D011694 SNOMEDCT_US_2016_03_01:402852007 UMLS_CUI:C0034151 hyperglobulinemic purpura (disorder) disease_ontology DOID:3325 hyperglobulinemic purpura hyperglobulinemic purpura (disorder) SNOMEDCT_2005_07_31:402852007 ICD10CM:D69.2 MESH:D011693 NCI:C78787 SNOMEDCT_US_2016_03_01:118653003 SNOMEDCT_US_2016_03_01:12393003 SNOMEDCT_US_2016_03_01:154822006 SNOMEDCT_US_2016_03_01:191313005 SNOMEDCT_US_2016_03_01:246989006 SNOMEDCT_US_2016_03_01:267564008 SNOMEDCT_US_2016_03_01:387778001 SNOMEDCT_US_2016_03_01:423902002 UMLS_CUI:C0034150 Purpuric disorder disease_ontology DOID:3326 purpura Purpuric disorder SNOMEDCT_2005_07_31:387778001 MESH:D020938 NCI:C50847 SNOMEDCT_US_2016_03_01:128612007 SNOMEDCT_US_2016_03_01:67139004 SNOMEDCT_US_2016_03_01:82401000 UMLS_CUI:C0016399 Focal motor seizure (disorder) Focal motor seizure, NOS epilepsy, focal motor NOS disease_ontology DOID:3327 partial motor epilepsy Focal motor seizure (disorder) SNOMEDCT_2005_07_31:128612007 Focal motor seizure, NOS SNOMEDCT_2005_07_31:67139004 epilepsy, focal motor NOS MTHICD9_2006:345.5 MESH:D004833 SNOMEDCT_US_2016_03_01:155040000 SNOMEDCT_US_2016_03_01:193000002 SNOMEDCT_US_2016_03_01:84340007 UMLS_CUI:C0014556 epilepsy, temporal lobe disease_ontology DOID:3328 temporal lobe epilepsy epilepsy, temporal lobe MTHICD9_2006:345.4 MESH:D019305 UMLS_CUI:C0376532 BCECTS benign Rolandic epilepsy benign childhood epilepsy with centrotemporal spike rolandic epilepsy sylvan seizures disease_ontology DOID:3329 benign epilepsy with centrotemporal spikes benign Rolandic epilepsy SNOMEDCT_2005_07_31:44145005 benign childhood epilepsy with centrotemporal spike SNOMEDCT_2005_07_31:193024005 disease_ontology DOID:333 chronic factitious illness with physical symptoms true MESH:D020937 UMLS_CUI:C0752322 disease_ontology DOID:3330 partial sensory epilepsy MESH:D017034 SNOMEDCT_US_2016_03_01:230394006 UMLS_CUI:C0085541 Frontal lobe epilepsy (disorder) disease_ontology DOID:3331 frontal lobe epilepsy Frontal lobe epilepsy (disorder) SNOMEDCT_2005_07_31:230394006 A trichostrongyloidiasis that involves parasitic infection of the ruminant abomasum by nematodes of the genus Haemonchus resulting in anemia, dehydration, diarrhea and accumulation of fluid in the abdomen, gut wall, thoracic cavity and submandibular tissue. MESH:D006188 UMLS_CUI:C0018477 disease_ontology DOID:3332 haemonchiasis A trichostrongyloidiasis that involves parasitic infection of the ruminant abomasum by nematodes of the genus Haemonchus resulting in anemia, dehydration, diarrhea and accumulation of fluid in the abdomen, gut wall, thoracic cavity and submandibular tissue. url:http://en.wikipedia.org/wiki/Haemonchus_contortus A personality disorder that is characterized by a pattern of excessive emotionality and attention-seeking, including an excessive need for approval and inappropriately seductive behavior, usually beginning in early adulthood. ICD10CM:F60.4 ICD9CM:301.5 ICD9CM:301.50 MESH:D006677 NCI:C92634 SNOMEDCT_US_2016_03_01:154900000 SNOMEDCT_US_2016_03_01:191764009 SNOMEDCT_US_2016_03_01:191767002 SNOMEDCT_US_2016_03_01:192489002 SNOMEDCT_US_2016_03_01:268758001 SNOMEDCT_US_2016_03_01:55341008 UMLS_CUI:C0019681 disease_ontology DOID:334 histrionic personality disorder A personality disorder that is characterized by a pattern of excessive emotionality and attention-seeking, including an excessive need for approval and inappropriately seductive behavior, usually beginning in early adulthood. url:http://en.wikipedia.org/wiki/Histrionic_personality_disorder Lymphangioendothelioma, NOS lymphangioendothelioma disease_ontology DOID:3340 lymphangioendothelioma true Lymphangioendothelioma, NOS SNOMEDCT_2005_07_31:69044001 lymphangioendothelioma CSP2005:2004-0139 A bone resorption disease that has_material_basis_in hyperparathyroidism which results_in hyperactivity in osteoclasts, deformity, and loss of mass located_in bone. MESH:D010002 NCI:C34875 SNOMEDCT_US_2016_03_01:190451000 SNOMEDCT_US_2016_03_01:190453002 SNOMEDCT_US_2016_03_01:84727000 UMLS_CUI:C0029405 Osteitis fibrosa cystica generalisata (disorder) Von Recklinghausen's bone disease hyperparathyroid bone disease disease_ontology DOID:3341 osteitis fibrosa A bone resorption disease that has_material_basis_in hyperparathyroidism which results_in hyperactivity in osteoclasts, deformity, and loss of mass located_in bone. url:http://en.wikipedia.org/wiki/Osteitis_fibrosa_cystica url:http://www.nlm.nih.gov/medlineplus/ency/article/001252.htm url:http://www.umm.edu/ency/article/001252.htm Osteitis fibrosa cystica generalisata (disorder) SNOMEDCT_2005_07_31:84727000 Von Recklinghausen's bone disease SNOMEDCT_2005_07_31:190451000 hyperparathyroid bone disease SNOMEDCT_2005_07_31:190453002 A bone disease that results_in inflammation of the located_in bone. MESH:D010000 SNOMEDCT_US_2016_03_01:156780005 SNOMEDCT_US_2016_03_01:274144001 SNOMEDCT_US_2016_03_01:363172002 SNOMEDCT_US_2016_03_01:44462005 UMLS_CUI:C0029400 Inflammatory disorder of bone bone inflammatory disease osteitis disease_ontology DOID:3342 bone inflammation disease A bone disease that results_in inflammation of the located_in bone. url:http://en.wikipedia.org/wiki/Osteitis url:http://www.medcyclopaedia.com/library/topics/volume_iii_1/o/osteitis.aspx url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Osteitis Inflammatory disorder of bone SNOMEDCT_2005_07_31:363172002 bone inflammatory disease SNOMEDCT_2005_07_31:156780005 osteitis CSP2005:2715-2703 A lysosomal storage disease that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase). ICD10:E77.1 MESH:D009081 NCI:C61267 OMIM:256550 SNOMEDCT_US_2016_03_01:70528007 UMLS_CUI:C0026697 Mucolipidosis type I sialidosis disease_ontology DOID:3343 OMIM mapping submitted by NeuroDevNet. [LS]. glycoproteinosis A lysosomal storage disease that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase). url:http://en.wikipedia.org/wiki/Sialidosis url:https://en.wikipedia.org/wiki/Glycoproteinosis url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/302/viewAbstract A lipid storage disease that is characterized by the desposition of yellowish cholesterol-rich material in tendons or other body parts. MESH:D014973 SNOMEDCT_US_2016_03_01:63103006 UMLS_CUI:C0043325 xanthelasmatosis disease_ontology DOID:3345 xanthomatosis A lipid storage disease that is characterized by the desposition of yellowish cholesterol-rich material in tendons or other body parts. url:http://en.wikipedia.org/wiki/Xanthoma xanthelasmatosis CSP2005:1746-8555 A bone cancer that is located_in bone that has_material_basis_in cells of mesenchymal origin. DOID:183 MESH:D012516 MESH:D018213 NCI:C9145 OMIM:259500 SNOMEDCT_US_2016_03_01:189878003 SNOMEDCT_US_2016_03_01:21708004 SNOMEDCT_US_2016_03_01:307576001 SNOMEDCT_US_2016_03_01:408387006 UMLS_CUI:C0029463 UMLS_CUI:C0206639 Osteogenic sarcoma Skeletal sarcoma bone tissue neoplasm osteoid sarcoma disease_ontology DOID:3347 OMIM mapping confirmed by DO. [SN]. osteosarcoma A bone cancer that is located_in bone that has_material_basis_in cells of mesenchymal origin. url:http://en.wikipedia.org/wiki/Osteosarcoma url:http://www.cancer.gov/dictionary?cdrid=45395 Osteogenic sarcoma NCI2004_11_17:C9145 Skeletal sarcoma NCI2004_11_17:C9312 osteoid sarcoma CSP2005:2019-1578 Osteogenic tumor disease_ontology DOID:3349 osteogenic neoplasm true Osteogenic tumor NCI2004_11_17:C6603 A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from embryonic connective tissue that is capable of developing into connective tissue, such as bone, and cartilage, the lymphatic system, and the circulatory system. DOID:1630 NCI:C6587 NCI:C7059 UMLS_CUI:C1332517 UMLS_CUI:C1334699 benign miscellaneous mesenchymal tumor mesenchymal tumor disease_ontology DOID:3350 mesenchymal cell neoplasm A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from embryonic connective tissue that is capable of developing into connective tissue, such as bone, and cartilage, the lymphatic system, and the circulatory system. url:http://en.wikipedia.org/wiki/Mesenchymal_cell url:http://www.ncbi.nlm.nih.gov/books/NBK9549/ mesenchymal tumor NCI2004_11_17:C7059 NCI:C6479 UMLS_CUI:C1332574 osseous hemangiosarcoma disease_ontology DOID:3351 bone angioendothelial sarcoma osseous hemangiosarcoma NCI2004_11_17:C6479 NCI:C8563 UMLS_CUI:C0740479 malignant fibrous Histiocytoma of the bone disease_ontology DOID:3352 malignant fibrous histiocytoma of bone malignant fibrous Histiocytoma of the bone NCI2004_11_17:C8563 Fibrosarcoma of the bone disease_ontology DOID:3354 fibrosarcoma of bone Fibrosarcoma of the bone NCI2004_11_17:C6604 A connective tissue cancer that has_material_basis_in fibrous connective tissue and characterized by the presence of immature proliferating fibroblasts or undifferentiated anaplastic spindle cells in a storiform pattern. DOID:156 DOID:3509 MESH:D005354 MESH:D018218 NCI:C3043 NCI:C6605 NCI:C7075 SNOMEDCT_US_2016_03_01:443250000 SNOMEDCT_US_2016_03_01:53654007 UMLS_CUI:C0016057 UMLS_CUI:C0206643 UMLS_CUI:C1336021 Fibrocytic tumor fibrosarcoma of soft tissue fibrous tissue neoplasm disease_ontology DOID:3355 fibrosarcoma A connective tissue cancer that has_material_basis_in fibrous connective tissue and characterized by the presence of immature proliferating fibroblasts or undifferentiated anaplastic spindle cells in a storiform pattern. url:http://en.wikipedia.org/wiki/Fibrosarcoma Fibrocytic tumor NCI2004_11_17:C7075 NCI:C7780 UMLS_CUI:C0278511 localized Osteogenic sarcoma disease_ontology DOID:3356 localized osteosarcoma localized Osteogenic sarcoma NCI2004_11_17:C7780 NCI:C8810 SNOMEDCT_US_2016_03_01:404077005 UMLS_CUI:C0855052 extraskeletal Osteogenic sarcoma extraskeletal osteosarcoma (disorder) disease_ontology DOID:3357 extraosseous osteosarcoma extraskeletal Osteogenic sarcoma NCI2004_11_17:C8810 extraskeletal osteosarcoma (disorder) SNOMEDCT_2005_07_31:404077005 disease_ontology DOID:3359 malignant extraskeletal cartilaginous and osseous tumor true DOID:13772 DOID:14160 DOID:14337 DOID:9887 Nontraumatic rupture of extensor tendons of hand and wrist Nontraumatic rupture of flexor tendons of hand and wrist Nontraumatic rupture of quadriceps tendon Nontraumatic rupture of tendons of biceps Nontraumatic rupture of tendons of biceps (long head) Nontraumatic rupture of tendons of biceps, long head disease_ontology DOID:336 non-traumatic tendon rupture true Nontraumatic rupture of tendons of biceps MTHICD9_2006:727.62 Nontraumatic rupture of tendons of biceps (long head) ICD9CM_2006:727.62 NCI:C6470 SNOMEDCT_US_2016_03_01:431371000124105 UMLS_CUI:C1334820 disease_ontology DOID:3360 multifocal osteogenic sarcoma NCI:C6585 UMLS_CUI:C1332986 disease_ontology DOID:3361 pediatric osteosarcoma ICD10CM:I25.41 ICD9CM:414.11 MESH:D003323 SNOMEDCT_US_2016_03_01:373139003 SNOMEDCT_US_2016_03_01:50570003 UMLS_CUI:C0010051 Aneurysm of coronary vessels Aneurysmal lesion of coronary artery Arteriovenous aneurysm of coronary vessels disease_ontology DOID:3362 coronary aneurysm Aneurysm of coronary vessels ICD9CM_2006:414.11 Aneurysmal lesion of coronary artery SNOMEDCT_2005_07_31:373139003 Aneurysmal lesion of coronary artery SNOMEDCT_2005_07_31:50570003 Arteriovenous aneurysm of coronary vessels MTHICD9_2006:414.11 relapsed Osteosarcoma disease_ontology DOID:3365 recurrent osteosarcoma true relapsed Osteosarcoma NCI2004_11_17:C7881 NCI:C7154 UMLS_CUI:C1332579 disease_ontology DOID:3367 bone leiomyosarcoma A peripheral primitive neuroectodermal tumor that is located_in bone. DOID:4984 DOID:6392 NCI:C35871 NCI:C4835 NCI:C6623 SNOMEDCT_US_2016_03_01:307608006 UMLS_CUI:C0585474 UMLS_CUI:C1333481 UMLS_CUI:C1334406 Ewing's sarcoma/bone peripheral primitive neuroectodermal tumor bone Ewing sarcoma bone localized Ewing sarcoma bone localized Ewing's sarcoma localized Skeletal Ewing's sarcoma disease_ontology Ewing's sarcoma of bone Skeletal Ewing's tumor bone Ewing's sarcoma DOID:3368 bone Ewing's sarcoma A peripheral primitive neuroectodermal tumor that is located_in bone. url:http://en.wikipedia.org/wiki/Ewing%27s_sarcoma localized Skeletal Ewing's sarcoma NCI2004_11_17:C6623 Ewing's sarcoma of bone SNOMEDCT_2005_07_31:307608006 Skeletal Ewing's tumor NCI2004_11_17:C4835 A bone cancer that has_material_basis in neural crest cells derives_from undeveloped, undifferentiated neuroectoderm. DOID:0050607 DOID:4158 DOID:4390 DOID:4391 DOID:4392 DOID:4980 MESH:C563168 MESH:D012512 MESH:D018241 NCI:C27901 NCI:C27903 NCI:C4817 NCI:C7542 NCI:C7806 NCI:C9341 OMIM:612219 SNOMEDCT_US_2016_03_01:128783001 SNOMEDCT_US_2016_03_01:134210007 SNOMEDCT_US_2016_03_01:253096008 SNOMEDCT_US_2016_03_01:703707001 SNOMEDCT_US_2016_03_01:73506006 SNOMEDCT_US_2016_03_01:73676002 SNOMEDCT_US_2016_03_01:76909002 UMLS_CUI:C0553580 UMLS_CUI:C0684337 UMLS_CUI:C0796547 UMLS_CUI:C0863029 UMLS_CUI:C0877849 UMLS_CUI:C1334408 Ewing's family localized tumor Ewing's sarcoma/peripheral primitive neuroectodermal tumor Ewing's tumor Ewings sarcoma Ewings sarcoma-primitive neuroectodermal tumor PNET of Thoracopulmonary Region localized Ewing sarcoma localized Ewing's sarcoma localized Ewing's sarcoma/peripheral primitive neuroectodermal tumor localized Ewing's tumor localized peripheral primitive neuroectodermal tumor peripheral primitive neuroectodermal tumor disease_ontology DOID:3369 OMIM mapping confirmed by DO. [SN]. Ewing sarcoma A bone cancer that has_material_basis in neural crest cells derives_from undeveloped, undifferentiated neuroectoderm. url:http://en.wikipedia.org/wiki/Primitive_neuroectodermal_tumor url:http://www.cancer.gov/dictionary?cdrid=383924 Ewing's sarcoma/peripheral primitive neuroectodermal tumor NCI2004_11_17:C27291 Ewing's tumor CSP2005:2008-4746 Ewing's tumor NCI2004_11_17:C4817 PNET of Thoracopulmonary Region NCI2004_11_17:C7542 localized Ewing's sarcoma/peripheral primitive neuroectodermal tumor NCI2004_11_17:C27901 localized Ewing's tumor NCI2004_11_17:C7806 NCI:C5829 SNOMEDCT_US_2016_03_01:126977003 UMLS_CUI:C1263902 XIth Cranial nerve tumors neoplasm of accessory nerve (disorder) disease_ontology DOID:337 spinal accessory nerve neoplasm XIth Cranial nerve tumors NCI2004_11_17:C5829 neoplasm of accessory nerve (disorder) SNOMEDCT_2005_07_31:126977003 A connective tissue cancer that has_material_basis_in cells derived from transformed cells that produce cartilage. DOID:3370 MESH:D002813 NCI:C2946 NCI:C7155 OMIM:215300 SNOMEDCT_US_2016_03_01:14990007 SNOMEDCT_US_2016_03_01:189886003 SNOMEDCT_US_2016_03_01:443520009 UMLS_CUI:C0008479 UMLS_CUI:C1335473 chondrosarcoma of bone primary chondrosarcoma of the bone disease_ontology DOID:3371 OMIM mapping confirmed by DO. [SN]. chondrosarcoma A connective tissue cancer that has_material_basis_in cells derived from transformed cells that produce cartilage. url:http://en.wikipedia.org/wiki/Chondrosarcoma chondrosarcoma of bone SNOMEDCT_2005_07_31:134336003 primary chondrosarcoma of the bone NCI2004_11_17:C7155 NCI:C4021 SNOMEDCT_US_2016_03_01:76312009 UMLS_CUI:C0279603 Chondroblastic osteosarcoma (morphologic abnormality) chondrosarcomatous Osteogenic sarcoma disease_ontology DOID:3372 chondroblastic osteosarcoma Chondroblastic osteosarcoma (morphologic abnormality) SNOMEDCT_2005_07_31:76312009 chondrosarcomatous Osteogenic sarcoma NCI2004_11_17:C4021 MESH:D018217 NCI:C8969 SNOMEDCT_US_2016_03_01:128918008 SNOMEDCT_US_2016_03_01:189879006 SNOMEDCT_US_2016_03_01:91242000 UMLS_CUI:C0206642 Parosteal Osteogenic sarcoma Parosteal Osteosarcoma disease_ontology DOID:3373 juxtacortical osteosarcoma Parosteal Osteogenic sarcoma NCI2004_11_17:C8969 Parosteal Osteosarcoma MTH:NOCODE NCI:C7134 UMLS_CUI:C1332591 Surface Osteosarcoma disease_ontology DOID:3374 peripheral osteosarcoma Surface Osteosarcoma NCI2004_11_17:C7134 NCI:C53707 SNOMEDCT_US_2016_03_01:307576001 UMLS_CUI:C0585442 Osteosarcoma of bone (disorder) primary Osteosarcoma of bone disease_ontology DOID:3376 bone osteosarcoma Osteosarcoma of bone (disorder) SNOMEDCT_2005_07_31:307576001 primary Osteosarcoma of bone NCI2004_11_17:C4834 NCI:C4023 SNOMEDCT_US_2016_03_01:12302002 SNOMEDCT_US_2016_03_01:189882001 UMLS_CUI:C0279622 small cell osteosarcoma (morphologic abnormality) Round cell osteosarcoma small cell Osteosarcoma disease_ontology DOID:3377 small cell osteogenic sarcoma small cell osteosarcoma (morphologic abnormality) SNOMEDCT_2005_07_31:189882001 Round cell osteosarcoma SNOMEDCT_2005_07_31:12302002 small cell Osteosarcoma NCI2004_11_17:C4023 Medullary Osteosarcoma Medullary osteosarcoma conventional Osteosarcoma disease_ontology DOID:3378 conventional central osteosarcoma Medullary Osteosarcoma NCI2004_11_17:C6901 Medullary osteosarcoma SNOMEDCT_2005_07_31:128770002 conventional Osteosarcoma NCI2004_11_17:C35870 NCI:C38157 UMLS_CUI:C1334704 disease_ontology DOID:3379 metachronous osteosarcoma of the bone MESH:D003390 NCI:C2963 SNOMEDCT_US_2016_03_01:126966009 UMLS_CUI:C0010267 neoplasm of cranial nerve (disorder) tumor of the Cranial nerve disease_ontology DOID:338 cranial nerve neoplasm neoplasm of cranial nerve (disorder) SNOMEDCT_2005_07_31:126966009 tumor of the Cranial nerve NCI2004_11_17:C2963 NCI:C7598 UMLS_CUI:C1332581 Liposarcoma of the bone disease_ontology DOID:3381 liposarcoma of bone Liposarcoma of the bone NCI2004_11_17:C7598 A lipomatous cancer that arises in fat cells in deep soft tissue retroperitoneum. MESH:D008080 NCI:C3194 SNOMEDCT_US_2016_03_01:189777004 SNOMEDCT_US_2016_03_01:254829001 SNOMEDCT_US_2016_03_01:49430005 UMLS_CUI:C0023827 disease_ontology DOID:3382 liposarcoma A lipomatous cancer that arises in fat cells in deep soft tissue retroperitoneum. url:http://en.wikipedia.org/wiki/Liposarcoma metastatic Osteogenic sarcoma disease_ontology DOID:3384 metastatic osteosarcoma true metastatic Osteogenic sarcoma NCI2004_11_17:C7781 A vaginitis that is characterized by a grayish vaginal discharge usually of foul odor and the presence of Gardnerella vaginalis. MESH:D016585 NCI:C116973 SNOMEDCT_US_2016_03_01:155981006 SNOMEDCT_US_2016_03_01:198221007 SNOMEDCT_US_2016_03_01:237092002 SNOMEDCT_US_2016_03_01:266655004 SNOMEDCT_US_2016_03_01:419760006 SNOMEDCT_US_2016_03_01:85569008 UMLS_CUI:C0085166 disease_ontology DOID:3385 bacterial vaginosis A vaginitis that is characterized by a grayish vaginal discharge usually of foul odor and the presence of Gardnerella vaginalis. url:http://www.rho.org/html/glossary.html url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bacterial+vaginosis ICD10CM:K05.6 MESH:D010510 NCI:C63743 SNOMEDCT_US_2016_03_01:13877006 SNOMEDCT_US_2016_03_01:196354003 SNOMEDCT_US_2016_03_01:2556008 UMLS_CUI:C0031090 Periodontal disease Periodontal disease (disorder) disease of supporting structures of teeth, NOS periodontium disorder disease_ontology DOID:3388 periodontal disease Periodontal disease SNOMEDCT_2005_07_31:196354003 Periodontal disease (disorder) SNOMEDCT_2005_07_31:2556008 disease of supporting structures of teeth, NOS SNOMEDCT_2005_07_31:13877006 periodontium disorder CSP2005:0828-4279 MESH:D010214 NCI:C84992 OMIM:245000 SNOMEDCT_US_2016_03_01:40158001 UMLS_CUI:C0030360 Papillon Lefevre syndrome Papillon-Lefvre syndrome (disorder) disease_ontology DOID:3389 OMIM mapping confirmed by DO. [SN]. Papillon-Lefevre disease Papillon Lefevre syndrome CSP2005:0828-4592 Papillon Lefevre syndrome CSP2005:2716-7025 Papillon-Lefvre syndrome (disorder) SNOMEDCT_2005_07_31:40158001 ICD9CM:352.4 MESH:D020436 NCI:C26953 SNOMEDCT_US_2016_03_01:84759007 UMLS_CUI:C0152180 Eleventh nerve disorder disorder of 11th nerve disorder of accessory [11th] nerve disorder of accessory nerve (disorder) disease_ontology DOID:339 accessory nerve disease Eleventh nerve disorder NCI2004_11_17:C26953 disorder of 11th nerve MTHICD9_2006:352.4 disorder of accessory [11th] nerve ICD9CM_2006:352.4 disorder of accessory nerve (disorder) SNOMEDCT_2005_07_31:84759007 A keratosis characterized by abnormal thickening of the palms and the soles. ICD10CM:L85.2 MESH:D007645 NCI:C34748 SNOMEDCT_US_2016_03_01:205584004 SNOMEDCT_US_2016_03_01:28596004 SNOMEDCT_US_2016_03_01:706885006 UMLS_CUI:C0022596 Keratosis palmaris et plantaris Palmoplantar Keratoderma disease_ontology DOID:3390 palmoplantar keratosis A keratosis characterized by abnormal thickening of the palms and the soles. url:http://en.wikipedia.org/wiki/Palmoplantar_keratoderma Keratosis palmaris et plantaris SNOMEDCT_2005_07_31:205584004 Palmoplantar Keratoderma NCI2004_11_17:C34748 An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles. DOID:10506 DOID:3363 DOID:3394 DOID:9420 EFO:0001645 ICD10CM:I20-I25 ICD10CM:I25 ICD10CM:I25.1 ICD10CM:I25.10 ICD10CM:I25.9 ICD10CM:K76.1 ICD9CM:410-414.99 ICD9CM:414.0 ICD9CM:414.9 MESH:D003324 MESH:D003327 MESH:D017202 NCI:C35505 NCI:C50625 OMIM:300464 OMIM:607339 OMIM:608316 OMIM:608318 OMIM:608320 OMIM:608901 OMIM:610938 OMIM:610947 OMIM:611139 OMIM:612030 OMIM:614293 OMIM:614466 SNOMEDCT_US_2016_03_01:155303000 SNOMEDCT_US_2016_03_01:155315001 SNOMEDCT_US_2016_03_01:155316000 SNOMEDCT_US_2016_03_01:155318004 SNOMEDCT_US_2016_03_01:155322009 SNOMEDCT_US_2016_03_01:194795001 SNOMEDCT_US_2016_03_01:194841001 SNOMEDCT_US_2016_03_01:194852007 SNOMEDCT_US_2016_03_01:194878003 SNOMEDCT_US_2016_03_01:195540001 SNOMEDCT_US_2016_03_01:233822007 SNOMEDCT_US_2016_03_01:2610009 SNOMEDCT_US_2016_03_01:266231003 SNOMEDCT_US_2016_03_01:266290000 SNOMEDCT_US_2016_03_01:266291001 SNOMEDCT_US_2016_03_01:271430002 SNOMEDCT_US_2016_03_01:32598000 SNOMEDCT_US_2016_03_01:413838009 SNOMEDCT_US_2016_03_01:413844008 SNOMEDCT_US_2016_03_01:414545008 SNOMEDCT_US_2016_03_01:414795007 SNOMEDCT_US_2016_03_01:41702007 SNOMEDCT_US_2016_03_01:443502000 SNOMEDCT_US_2016_03_01:53741008 SNOMEDCT_US_2016_03_01:84537008 UMLS_CUI:C0010054 UMLS_CUI:C0010068 UMLS_CUI:C0151744 UMLS_CUI:C0264694 CHD (coronary heart disease) Coronary disease coronary arteriosclerosis coronary heart disease disease_ontology DOID:3393 Xref MGI. coronary artery disease An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles. url:http://en.wikipedia.org/wiki/Coronary_heart_disease CHD (coronary heart disease) CSP2005:1393-3397 Coronary disease NCI2004_11_17:C26732 ICD10CM:E22.2 MESH:D007177 NCI:C3988 SNOMEDCT_US_2016_03_01:389983008 SNOMEDCT_US_2016_03_01:55004003 UMLS_CUI:C0021141 syndrome of Inappropriate Antidiuretic Hormone Secretion syndrome of inappropriate secretion of ADH syndrome of inappropriate secretion of antidiuretic hormone syndrome of inappropriate vasopressin secretion (disorder) disease_ontology DOID:3401 inappropriate ADH syndrome syndrome of Inappropriate Antidiuretic Hormone Secretion NCI2004_11_17:C3988 syndrome of inappropriate secretion of ADH MTHICD9_2006:253.6 syndrome of inappropriate secretion of antidiuretic hormone SNOMEDCT_2005_07_31:389983008 syndrome of inappropriate vasopressin secretion (disorder) SNOMEDCT_2005_07_31:55004003 neoplasm associated Ectopic Hormone Secretion syndromes disease_ontology DOID:3402 ectopic hormone secretion syndrome associated with neoplasia true neoplasm associated Ectopic Hormone Secretion syndromes NCI2004_11_17:C4065 hypergammaglobulinaemia hypergammaglobulinemia (finding) hypergammaglobulinemia [dup] (finding) hypergammaglobulinemia, NOS disease_ontology DOID:3403 hypergammaglobulinemia true hypergammaglobulinaemia SNOMEDCT_2005_07_31:154840005 hypergammaglobulinaemia SNOMEDCT_2005_07_31:267571003 hypergammaglobulinemia (finding) SNOMEDCT_2005_07_31:127388009 hypergammaglobulinemia [dup] (finding) SNOMEDCT_2005_07_31:191396003 hypergammaglobulinemia, NOS SNOMEDCT_2005_07_31:58034007 BMH benign Monoclonal Gammopathy benign monoclonal gammopathy (disorder) disease_ontology DOID:3404 benign monoclonal gammopathy true BMH MTHICD9_2006:273.1 benign Monoclonal Gammopathy NCI2004_11_17:C3996 benign monoclonal gammopathy (disorder) SNOMEDCT_2005_07_31:58648008 A lymphatic system disease that is characterized by an excessive number of histiocytes. DOID:3344 MESH:D015614 NCI:C3106 SNOMEDCT_US_2016_03_01:190957008 SNOMEDCT_US_2016_03_01:60657004 SNOMEDCT_US_2016_03_01:65396000 UMLS_CUI:C0019618 Hand Schuller Christian disease chronic Histiocytosis X disease_ontology DOID:3405 histiocytosis A lymphatic system disease that is characterized by an excessive number of histiocytes. url:http://en.wikipedia.org/wiki/Histiocytosis url:http://www.nlm.nih.gov/medlineplus/ency/article/000068.htm Hand Schuller Christian disease CSP2005:0427-5330 chronic Histiocytosis X MTHICD9_2006:277.89 MESH:D002340 NCI:C84476 SNOMEDCT_US_2016_03_01:371160000 UMLS_CUI:C0007273 disorder of carotid artery (disorder) disease_ontology DOID:3407 carotid artery disease disorder of carotid artery (disorder) SNOMEDCT_2005_07_31:371160000 A vascular disease that is characterized by obstruction of larger arteries not within the coronary, aortic arch vasculature, or brain. DOID:2868 ICD9CM:443.81 MESH:D001157 MESH:D016481 SNOMEDCT_US_2016_03_01:195624006 SNOMEDCT_US_2016_03_01:2929001 UMLS_CUI:C0003838 UMLS_CUI:C0031115 arterial occlusive disease disease_ontology DOID:341 peripheral vascular disease A vascular disease that is characterized by obstruction of larger arteries not within the coronary, aortic arch vasculature, or brain. url:http://en.wikipedia.org/wiki/Peripheral_vascular_disease MESH:D002341 SNOMEDCT_US_2016_03_01:195181000 SNOMEDCT_US_2016_03_01:86003009 UMLS_CUI:C0007274 Carotid artery thrombosis Carotid artery thrombosis (disorder) disease_ontology DOID:3410 carotid artery thrombosis Carotid artery thrombosis SNOMEDCT_2005_07_31:195181000 Carotid artery thrombosis (disorder) SNOMEDCT_2005_07_31:86003009 A viral infectious disease that involves necrosis of the liver caused by Canine adenovirus 1 in dogs, wolves, coyotes and bears. The symptoms include fever, leukopenia, apathy, anorexia, conjunctivitis, serous discharge from the eyes and nose, petechiae of the oral mucosa, subcutaneous edema of the head, neck and trunk, hematomas in the mouth, jaundice, and hepatic encephalopathy. disease_ontology DOID:3412 infectious canine hepatitis true A viral infectious disease that involves necrosis of the liver caused by Canine adenovirus 1 in dogs, wolves, coyotes and bears. The symptoms include fever, leukopenia, apathy, anorexia, conjunctivitis, serous discharge from the eyes and nose, petechiae of the oral mucosa, subcutaneous edema of the head, neck and trunk, hematomas in the mouth, jaundice, and hepatic encephalopathy. url:http://en.wikipedia.org/wiki/Infectious_canine_hepatitis url:http://www.merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/57200.htm A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome. MESH:D008363 NCI:C84548 OMIM:248500 SNOMEDCT_US_2016_03_01:124466001 SNOMEDCT_US_2016_03_01:65524005 UMLS_CUI:C0024748 Alpha-D-mannosidosis alpha-mannosidase deficiency deficiency of alpha-mannosidase (disorder) disease_ontology DOID:3413 OMIM mapping confirmed by DO. [SN]. alpha-mannosidosis A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome. url:http://en.wikipedia.org/wiki/Alpha-mannosidosis Alpha-D-mannosidosis SNOMEDCT_2005_07_31:65524005 deficiency of alpha-mannosidase (disorder) SNOMEDCT_2005_07_31:124466001 Mannosidosis Mannosidosis (disorder) mannosidase deficiency disease_ontology DOID:3414 mannosidase deficiency disease true Mannosidosis MTHICD9_2006:271.8 Mannosidosis SNOMEDCT_2005_07_31:190937009 Mannosidosis (disorder) SNOMEDCT_2005_07_31:65524005 mannosidase deficiency CSP2005:1849-6504 NCI:C5828 SNOMEDCT_US_2016_03_01:126975006 UMLS_CUI:C1263900 neoplasm of glossopharyngeal nerve (disorder) tumor of Glossopharyngeal nerve disease_ontology DOID:3417 glossopharyngeal nerve neoplasm neoplasm of glossopharyngeal nerve (disorder) SNOMEDCT_2005_07_31:126975006 tumor of Glossopharyngeal nerve NCI2004_11_17:C5828 ICD10CM:G52 ICD9CM:352 SNOMEDCT_US_2016_03_01:193098000 UMLS_CUI:C0154730 disease_ontology DOID:3418 glossopharyngeal nerve disease MESH:D019574 NCI:C4801 SNOMEDCT_US_2016_03_01:126968005 SNOMEDCT_US_2016_03_01:254971001 SNOMEDCT_US_2016_03_01:395505000 UMLS_CUI:C0524802 Tumour of optic nerve neoplasm of optic nerve (disorder) tumor of Second Cranial nerve disease_ontology DOID:3419 optic nerve neoplasm Tumour of optic nerve SNOMEDCT_2005_07_31:254971001 neoplasm of optic nerve (disorder) SNOMEDCT_2005_07_31:126968005 neoplasm of optic nerve (disorder) SNOMEDCT_2005_07_31:395505000 tumor of Second Cranial nerve NCI2004_11_17:C4801 ICD9CM:442.82 SNOMEDCT_US_2016_03_01:40136003 UMLS_CUI:C0155746 disease_ontology DOID:342 subclavian artery aneurysm tumor of the visual pathway disease_ontology DOID:3420 neoplasm of visual pathway true tumor of the visual pathway NCI2004_11_17:C6262 NCI:C5825 SNOMEDCT_US_2016_03_01:126970001 UMLS_CUI:C1263896 neoplasm of trochlear nerve (disorder) tumor of Trochlear nerve disease_ontology DOID:3421 trochlear nerve neoplasm neoplasm of trochlear nerve (disorder) SNOMEDCT_2005_07_31:126970001 tumor of Trochlear nerve NCI2004_11_17:C5825 ICD10CM:H81 ICD10CM:H81.9 ICD10CM:H81.90 MESH:D015837 SNOMEDCT_US_2016_03_01:194379003 SNOMEDCT_US_2016_03_01:194695008 SNOMEDCT_US_2016_03_01:20425006 SNOMEDCT_US_2016_03_01:267761002 UMLS_CUI:C0042594 Vertigo, vestibular disorder disease_ontology DOID:3426 vestibular disease Vertigo, vestibular disorder SNOMEDCT_2005_07_31:267761002 NCI:C27575 UMLS_CUI:C1334150 disease_ontology DOID:3428 Adding UMLS CUI for synonym. granulomatous myositis A myositis that is characterized by slowly progressive weakness and wasting of both distal and proximal muscles, most apparent in the muscles of the arms and legs that can occur in a sporadic or hereditary forms. ICD10CM:G72.41 ICD9CM:359.71 MESH:D018979 NCI:C84786 OMIM:147421 OMIM:605637 OMIM:605820 SNOMEDCT_US_2016_03_01:72315009 UMLS_CUI:C0238190 Distal Myopathy with Rimmed Vacuoles (DMRV) Distal myopathy, Nonaka type HIBM Hereditary Inclusion Body Myopathy IBM-3 IBM2 Nonaka Myopathy Nonaka myopathy inclusion body myopathy 2 inclusion body myopathy 3 disease_ontology DOID:3429 OMIM mapping confirmed by DO. [SN]. inclusion body myositis A myositis that is characterized by slowly progressive weakness and wasting of both distal and proximal muscles, most apparent in the muscles of the arms and legs that can occur in a sporadic or hereditary forms. url:http://en.wikipedia.org/wiki/Inclusion_body_myositis url:http://www.jewishgeneticdiseases.org/diseases/hereditary-inclusion-body-myopathy-2/ url:http://www.myositis.org/learn-about-myositis/types-of-myositis/inclusion-body-myositis url:http://www.ncbi.nlm.nih.gov/gtr/conditions/C1853926/ url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=602 NCI:C27199 UMLS_CUI:C0742115 disease_ontology DOID:3431 cerebritis A acute laryngitis which is caused by viral infection. NCI:C27305 SNOMEDCT_US_2016_03_01:441551009 UMLS_CUI:C0853195 disease_ontology DOID:3436 viral laryngitis A acute laryngitis which is caused by viral infection. url:http://www.merck.com/mmpe/sec08/ch092/ch092d.html A laryngeal disease involving an inflammation of the larynx leading to hoarse voice or a complete loss of voice due to irritation of the vocal cords caused by viral, bacterial or fungal infection, inflammation due to overuse of the vocal cords and excessive coughing, smoking, or alcohol consumption. MESH:D007827 NCI:C26811 SNOMEDCT_US_2016_03_01:45913009 UMLS_CUI:C0023067 disease_ontology DOID:3437 laryngitis A laryngeal disease involving an inflammation of the larynx leading to hoarse voice or a complete loss of voice due to irritation of the vocal cords caused by viral, bacterial or fungal infection, inflammation due to overuse of the vocal cords and excessive coughing, smoking, or alcohol consumption. url:http://en.wikipedia.org/wiki/Laryngitis A disease that involves any biological process (GO:0008150) specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms. disease_ontology DOID:344 disease of biological process true A disease that involves any biological process (GO:0008150) specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms. DO:wk,ls NCI:C7073 UMLS_CUI:C1368019 Paget cell neoplasm Paget's disease Paget's disease of the breast mammary Paget disease disease_ontology DOID:3443 mammary Paget's disease Paget cell neoplasm NCI2004_11_17:C7073 NCI:C7728 UMLS_CUI:C0238330 Paget's disease of scrotum scrotum Paget disease disease_ontology DOID:3444 scrotum Paget's disease Paget's disease of scrotum NCI2004_11_17:C7728 NCI:C6389 UMLS_CUI:C1370468 carcinoma of scrotum disease_ontology DOID:3445 scrotal carcinoma carcinoma of scrotum NCI2004_11_17:C6389 NCI:C5598 UMLS_CUI:C1332274 Paget's disease of anus anal Paget disease disease_ontology Paget's disease of the anus DOID:3446 anal Paget's disease Paget's disease of anus NCI2004_11_17:C5598 An anal carcinoma that originating in the cortex of the adrenal gland and derives_from epithelial cells of glandular origin. NCI:C5600 SNOMEDCT_US_2016_03_01:423607006 UMLS_CUI:C1332257 adenocarcinoma of anus disease_ontology adenocarcinoma of the anus DOID:3447 anus adenocarcinoma An anal carcinoma that originating in the cortex of the adrenal gland and derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma adenocarcinoma of anus NCI2004_11_17:C5600 NCI:C27817 SNOMEDCT_US_2016_03_01:255104003 SNOMEDCT_US_2016_03_01:398768004 UMLS_CUI:C0221286 Paget's disease of penis penis Paget disease disease_ontology DOID:3448 penis Paget's disease Paget's disease of penis SNOMEDCT_2005_07_31:255104003 Paget's disease of penis SNOMEDCT_2005_07_31:398768004 A penile cancer that is located_in the skin or tissues of the penis. NCI:C9061 SNOMEDCT_US_2016_03_01:372106005 UMLS_CUI:C0853105 Penile carcinoma carcinoma of penis (disorder) disease_ontology DOID:3449 penis carcinoma A penile cancer that is located_in the skin or tissues of the penis. url:http://en.wikipedia.org/wiki/Carcinoma_of_the_penis Penile carcinoma NCI2004_11_17:C9061 carcinoma of penis (disorder) SNOMEDCT_2005_07_31:372106005 A female reproductive system disease that is located_in the uterus. ICD10CM:N85.9 ICD9CM:621.9 MESH:D014591 NCI:C26907 SNOMEDCT_US_2016_03_01:12337004 SNOMEDCT_US_2016_03_01:156004005 SNOMEDCT_US_2016_03_01:156009000 SNOMEDCT_US_2016_03_01:198335006 SNOMEDCT_US_2016_03_01:237068005 UMLS_CUI:C0042131 disease_ontology DOID:345 uterine disease A female reproductive system disease that is located_in the uterus. url:http://www.merriam-webster.com/dictionary/uterus A skin carcinoma that is characterized by infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli. MESH:D010145 NCI:C3302 Paget's disease of skin cutaneous Paget disease extramammary Paget's disease disease_ontology DOID:3450 cutaneous Paget's disease A skin carcinoma that is characterized by infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli. url:https://ncit.nci.nih.gov/ncitbrowser/pages/home.jsf;jsessionid=C48DBFA9A55E2FE31390EDF86D581ABE Paget's disease of skin SNOMEDCT_2005_07_31:232336001 A skin cancer that is located_in tissues of the skin and develops from epithelial cells. NCI:C4914 UMLS_CUI:C0699893 carcinoma of skin disease_ontology carcinoma of skin DOID:3451 skin carcinoma A skin cancer that is located_in tissues of the skin and develops from epithelial cells. url:http://www.cancer.gov/cancertopics/types/skin carcinoma of skin MTH:683 MESH:D020520 UMLS_CUI:C0751955 disease_ontology DOID:3454 brain infarction MESH:D002579 SNOMEDCT_US_2016_03_01:156011009 SNOMEDCT_US_2016_03_01:266662008 SNOMEDCT_US_2016_03_01:61253004 UMLS_CUI:C0007869 Erosion of cervix disease_ontology DOID:3456 cervix erosion Erosion of cervix SNOMEDCT_2005_07_31:156011009 MESH:D018275 NCI:C3771 SNOMEDCT_US_2016_03_01:189713007 SNOMEDCT_US_2016_03_01:278054005 SNOMEDCT_US_2016_03_01:89740008 UMLS_CUI:C0206692 Lobular carcinoma (morphologic abnormality) Lobular carcinoma NOS (morphologic abnormality) Lobular carcinoma of breast (disorder) Lobular carcinoma of the breast disease_ontology DOID:3457 invasive lobular carcinoma Lobular carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:89740008 Lobular carcinoma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189713007 Lobular carcinoma of breast (disorder) SNOMEDCT_2005_07_31:278054005 Lobular carcinoma of the breast NCI2004_11_17:C3771 A breast carcinoma that originates in the milk ducts and/or lobules (glandular tissue) of the breast. NCI:C5214 UMLS_CUI:C0858252 Mammary adenocarcinoma disease_ontology adenocarcinoma of breast DOID:3458 breast adenocarcinoma A breast carcinoma that originates in the milk ducts and/or lobules (glandular tissue) of the breast. url:http://www.virtualmedicalcentre.com/diseases.asp?did=696 Mammary adenocarcinoma NCI2004_11_17:C5214 A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. EFO:0000305 NCI:C4872 SNOMEDCT_US_2016_03_01:154513000 SNOMEDCT_US_2016_03_01:254838004 SNOMEDCT_US_2016_03_01:286898006 UMLS_CUI:C0678222 Mammary carcinoma carcinoma of breast disease_ontology DOID:3459 breast carcinoma A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Breast_cancer Mammary carcinoma NCI2004_11_17:C4872 carcinoma of breast SNOMEDCT_2005_07_31:254838004 disease_ontology DOID:3461 breast hamartoma true DOID:3474 hamartoma hamartoma (disorder) hamartoma (morphologic abnormality) hamartomatous polyp hamartomatous polyp (morphologic abnormality) disease_ontology DOID:3462 hamartoma true hamartoma NCI2004_11_17:C3075 hamartoma (disorder) SNOMEDCT_2005_07_31:400006008 hamartoma (morphologic abnormality) SNOMEDCT_2005_07_31:51398009 hamartomatous polyp (morphologic abnormality) SNOMEDCT_2005_07_31:27391005 A thoracic disease that is located_in the breast. ICD10CM:N60-N65 ICD10CM:N64.9 ICD9CM:610-612.99 ICD9CM:611.9 MESH:D001941 NCI:C26709 SNOMEDCT_US_2016_03_01:155946009 SNOMEDCT_US_2016_03_01:155962003 SNOMEDCT_US_2016_03_01:155966000 SNOMEDCT_US_2016_03_01:198129001 SNOMEDCT_US_2016_03_01:198566004 SNOMEDCT_US_2016_03_01:266647006 SNOMEDCT_US_2016_03_01:79604008 UMLS_CUI:C0006145 disease_ontology DOID:3463 breast disease A thoracic disease that is located_in the breast. url:http://www.nlm.nih.gov/medlineplus/breastdiseases.html hamartoma of skin appendage (disorder) skin Appendage hamartoma disease_ontology DOID:3464 hamartoma of skin appendage true hamartoma of skin appendage (disorder) SNOMEDCT_2005_07_31:399906000 skin Appendage hamartoma NCI2004_11_17:C5562 Congenital nevus of the skin disease_ontology DOID:3465 congenital nevus of skin true Congenital nevus of the skin NCI2004_11_17:C5570 Cartilagenous hamartoma cartilaginous hamartoma (morphologic abnormality) disease_ontology DOID:3466 cartilaginous hamartoma true Cartilagenous hamartoma NCI2004_11_17:C40424 cartilaginous hamartoma (morphologic abnormality) SNOMEDCT_2005_07_31:23604003 mesenchymal hamartoma (morphologic abnormality) disease_ontology DOID:3467 mesenchymal hamartoma true mesenchymal hamartoma (morphologic abnormality) SNOMEDCT_2005_07_31:80656004 hamartoma of the CNS disease_ontology DOID:3470 hamartoma of central nervous system true hamartoma of the CNS NCI2004_11_17:C5509 hamartoma of lung (disorder) pulmonary hamartoma disease_ontology DOID:3472 hamartoma of lung true hamartoma of lung (disorder) SNOMEDCT_2005_07_31:254644003 pulmonary hamartoma NCI2004_11_17:C3497 hamartoma of brain (disorder) disease_ontology DOID:3473 brain hamartoma true hamartoma of brain (disorder) SNOMEDCT_2005_07_31:277369003 Lipomatous hamartoma Lipomatous hamartoma (disorder) disease_ontology DOID:3476 Lipomatous hamartoma true Lipomatous hamartoma NCI2004_11_17:C40426 Lipomatous hamartoma (disorder) SNOMEDCT_2005_07_31:400111008 DOID:6353 MESH:D015811 NCI:C3142 NCI:C4554 SNOMEDCT_US_2016_03_01:188264002 SNOMEDCT_US_2016_03_01:231964001 UMLS_CUI:C0022079 UMLS_CUI:C0346372 malignant neoplasm of the Iris malignant tumor of iris tumor of the Iris disease_ontology DOID:3478 iris cancer malignant neoplasm of the Iris NCI2004_11_17:C4554 tumor of the Iris NCI2004_11_17:C3142 DOID:12754 MESH:D014604 NCI:C3436 NCI:C6105 UMLS_CUI:C0042162 UMLS_CUI:C1334629 Uveal tumor malignant Uveal tumor malignant uvea neoplasm disease_ontology DOID:3479 uveal cancer Uveal tumor NCI2004_11_17:C3436 malignant Uveal tumor NCI2004_11_17:C6105 An eyelid disease that is characterized by exacerbations and remissions of eyelid edema, which results in a stretching and subsequent atrophy of the eyelid tissue, leading to the formation of redundant folds over the lid margins. ICD10CM:H02.3 ICD9CM:374.34 SNOMEDCT_US_2016_03_01:193944001 SNOMEDCT_US_2016_03_01:193962005 SNOMEDCT_US_2016_03_01:267650003 SNOMEDCT_US_2016_03_01:47704002 UMLS_CUI:C0005742 disease_ontology DOID:348 blepharochalasis An eyelid disease that is characterized by exacerbations and remissions of eyelid edema, which results in a stretching and subsequent atrophy of the eyelid tissue, leading to the formation of redundant folds over the lid margins. url:https://en.wikipedia.org/wiki/Blepharochalasis MESH:D014603 NCI:C26908 SNOMEDCT_US_2016_03_01:95678007 UMLS_CUI:C0042161 disease_ontology DOID:3480 uveal disease A plague that results_in infection located_in vasculature where bacterial endotoxins cause coagulation, which leads to formation of tiny clots throughout the body. The infection has_symptom fever, has_symptom chills, has_symptom prostration, has_symptom abdominal pain, has_symptom shock and has_symptom bleeding into skin and other organs. ICD10CM:A20.7 ICD9CM:020.2 MESH:D010930 SNOMEDCT_US_2016_03_01:9012003 UMLS_CUI:C0152936 Septicemic plague (disorder) disease_ontology DOID:3481 septicemic plague A plague that results_in infection located_in vasculature where bacterial endotoxins cause coagulation, which leads to formation of tiny clots throughout the body. The infection has_symptom fever, has_symptom chills, has_symptom prostration, has_symptom abdominal pain, has_symptom shock and has_symptom bleeding into skin and other organs. url:http://emedicine.medscape.com/article/829233-overview#a0104 url:http://en.wikipedia.org/wiki/Plague_%28disease%29#Septicemic_plague url:http://www.cdc.gov/ncidod/dvbid/plague/facts.htm Septicemic plague (disorder) SNOMEDCT_2005_07_31:9012003 A primary bacterial infectious disease that results_in infection, located_in lymph node, located_in vasculature or located_in lungs, has_material_basis_in Yersinia pestis, which is transmitted_by oriental rat flea (Xenopsylla cheopis) infected by feeding on rodents and other mammals, transmitted_by air, transmitted_by direct contact or transmitted_by ingestion of contaminated undercooked food. ICD10CM:A20 ICD10CM:A20.9 ICD9CM:020 ICD9CM:020.9 MESH:D010930 NCI:C85015 SNOMEDCT_US_2016_03_01:186290009 SNOMEDCT_US_2016_03_01:187298009 SNOMEDCT_US_2016_03_01:58750007 UMLS_CUI:C0032064 disease_ontology DOID:3482 plague A primary bacterial infectious disease that results_in infection, located_in lymph node, located_in vasculature or located_in lungs, has_material_basis_in Yersinia pestis, which is transmitted_by oriental rat flea (Xenopsylla cheopis) infected by feeding on rodents and other mammals, transmitted_by air, transmitted_by direct contact or transmitted_by ingestion of contaminated undercooked food. url:http://emedicine.medscape.com/article/829233-overview#a0104 A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Oxyurida. disease_ontology DOID:3485 Oxyurida infectious disease true A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Oxyurida. url:http://en.wikipedia.org/wiki/Oxyurida MESH:D009335 NCI:C34840 SNOMEDCT_US_2016_03_01:156394009 SNOMEDCT_US_2016_03_01:201317009 SNOMEDCT_US_2016_03_01:201319007 SNOMEDCT_US_2016_03_01:9418005 UMLS_CUI:C0027538 Necrobiosis lipoidica Necrobiosis lipoidica (disorder) disease_ontology DOID:3486 necrobiosis lipoidica Necrobiosis lipoidica SNOMEDCT_2005_07_31:156394009 Necrobiosis lipoidica SNOMEDCT_2005_07_31:201317009 Necrobiosis lipoidica SNOMEDCT_2005_07_31:201319007 Necrobiosis lipoidica (disorder) SNOMEDCT_2005_07_31:9418005 disease_ontology DOID:3487 metabolic skin disease true A skin disease where there is a diffuse infection of connective tissue with severe inflammation of dermal and subcutaneous layers of the skin. Cellulitis can be caused by normal skin flora or by exogenous bacteria, and often occurs where the skin has previously been broken: cracks in the skin, cuts, blisters, burns, insect bites, surgical wounds, or sites of intravenous catheter insertion. DOID:2472 ICD10CM:L03.90 MESH:D002481 NCI:C26715 NCI:C34454 SNOMEDCT_US_2016_03_01:128045006 SNOMEDCT_US_2016_03_01:156313004 SNOMEDCT_US_2016_03_01:156317003 SNOMEDCT_US_2016_03_01:191132005 SNOMEDCT_US_2016_03_01:200693005 SNOMEDCT_US_2016_03_01:267833003 SNOMEDCT_US_2016_03_01:385627004 SNOMEDCT_US_2016_03_01:62837005 SNOMEDCT_US_2016_03_01:74276003 UMLS_CUI:C0007642 UMLS_CUI:C0007646 disease_ontology DOID:3488 cellulitis A skin disease where there is a diffuse infection of connective tissue with severe inflammation of dermal and subcutaneous layers of the skin. Cellulitis can be caused by normal skin flora or by exogenous bacteria, and often occurs where the skin has previously been broken: cracks in the skin, cuts, blisters, burns, insect bites, surgical wounds, or sites of intravenous catheter insertion. url:http://en.wikipedia.org/wiki/Cellulitis MESH:D034721 NCI:C9235 SNOMEDCT_US_2016_03_01:123310005 SNOMEDCT_US_2016_03_01:397016004 SNOMEDCT_US_2016_03_01:50150000 UMLS_CUI:C0221013 SMCD - systemic mast cell disease systemic tissue mast cell disease disease_ontology DOID:349 systemic mastocytosis SMCD - systemic mast cell disease SNOMEDCT_2005_07_31:397016004 systemic tissue mast cell disease MTHICD9_2006:202.6 ICD10CM:Q87.1 MESH:D009634 NCI:C34854 NCI:C75459 OMIM:PS163950 ORDO:648 SNOMEDCT_US_2016_03_01:205684007 SNOMEDCT_US_2016_03_01:205794007 SNOMEDCT_US_2016_03_01:205824006 SNOMEDCT_US_2016_03_01:88327006 UMLS_CUI:C0028326 Turner's phenotype, karyotype normal (disorder) disease_ontology DOID:3490 OMIM mapping confirmed by DO. [SN]. Noonan syndrome Turner's phenotype, karyotype normal (disorder) SNOMEDCT_2005_07_31:205684007 DOID:5448 ICD10CM:Q96 ICD10CM:Q96.0 ICD10CM:Q96.9 MESH:D014424 NCI:C26900 NCI:C34434 NCI:C85210 SNOMEDCT_US_2016_03_01:157020008 SNOMEDCT_US_2016_03_01:205685008 SNOMEDCT_US_2016_03_01:205691005 SNOMEDCT_US_2016_03_01:254279009 SNOMEDCT_US_2016_03_01:268299006 SNOMEDCT_US_2016_03_01:268356004 SNOMEDCT_US_2016_03_01:38804009 UMLS_CUI:C0041408 UMLS_CUI:C1527168 Bonnevie-Ullrich syndrome Gonadal dysgenesis - Turner Karyotype 45, X Monosomy X XO syndrome monosomy X syndrome disease_ontology DOID:3491 No OMIM mapping, confirmed by DO. [LS]. Turner syndrome Bonnevie-Ullrich syndrome SNOMEDCT_2005_07_31:38804009 Gonadal dysgenesis - Turner SNOMEDCT_2005_07_31:268356004 Karyotype 45, X SNOMEDCT_2005_07_31:205685008 Monosomy X NCI2004_11_17:C36630 XO syndrome MTHICD9_2006:758.6 monosomy X syndrome CSP2005:1254-8447 A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen. ICD10CM:M35.1 MESH:D008947 NCI:C84892 SNOMEDCT_US_2016_03_01:33110008 SNOMEDCT_US_2016_03_01:398021003 SNOMEDCT_US_2016_03_01:398049005 UMLS_CUI:C0026272 Connective tissue disease overlap syndrome (disorder) mixed collagen vascular disease (disorder) disease_ontology DOID:3492 mixed connective tissue disease A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen. url:http://www.merckmanuals.com/professional/sec04/ch032/ch032c.html Connective tissue disease overlap syndrome (disorder) SNOMEDCT_2005_07_31:398021003 mixed collagen vascular disease (disorder) SNOMEDCT_2005_07_31:33110008 mixed collagen vascular disease (disorder) SNOMEDCT_2005_07_31:398049005 An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which have signet ring appearance. MESH:D018279 NCI:C3774 SNOMEDCT_US_2016_03_01:189701002 SNOMEDCT_US_2016_03_01:189702009 SNOMEDCT_US_2016_03_01:87737001 UMLS_CUI:C0206696 Signet Ring cell adenocarcinoma Signet ring carcinoma NOS (morphologic abnormality) Signet ring cell carcinoma Signet ring cell carcinoma (morphologic abnormality) disease_ontology DOID:3493 signet ring cell adenocarcinoma An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which have signet ring appearance. url:http://en.wikipedia.org/wiki/Signet_ring_cell_carcinoma Signet Ring cell adenocarcinoma NCI2004_11_17:C3774 Signet ring carcinoma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189702009 Signet ring cell carcinoma SNOMEDCT_2005_07_31:189701002 Signet ring cell carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:87737001 NCI:C5776 UMLS_CUI:C0861859 bile duct Signet Ring cell carcinoma disease_ontology DOID:3494 bile duct signet ring cell carcinoma bile duct Signet Ring cell carcinoma NCI2004_11_17:C5776 An extrahepatic bile duct carcinoma that derives_from epithelial cells of glandular origin. NCI:C7975 UMLS_CUI:C0279659 adenocarcinoma of extrahepatic bile duct disease_ontology adenocarcinoma of the extrahepatic bile duct DOID:3495 extrahepatic bile duct adenocarcinoma An extrahepatic bile duct carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma adenocarcinoma of extrahepatic bile duct NCI2004_11_17:C7975 NCI:C5720 UMLS_CUI:C1335317 Signet Ring cell carcinoma of pancreas pancreatic signet ring cell carcinoma disease_ontology DOID:3497 pancreatic signet ring cell adenocarcinoma Signet Ring cell carcinoma of pancreas NCI2004_11_17:C5720 A pancreatic adenocarcinoma that derives_from pancreatic duct cells. NCI:C9120 UMLS_CUI:C1335302 ductal adenocarcinoma of the pancreas disease_ontology DOID:3498 pancreatic ductal adenocarcinoma A pancreatic adenocarcinoma that derives_from pancreatic duct cells. url:http://cancergenome.nih.gov/cancersselected/PancreaticDuctalAdenocarcinoma url:http://en.wikipedia.org/wiki/Pancreatic_cancer ductal adenocarcinoma of the pancreas NCI2004_11_17:C9120 NCI:C5745 UMLS_CUI:C1333758 Signet Ring cell carcinoma of the gallbladder disease_ontology DOID:3499 gallbladder signet ring cell adenocarcinoma Signet Ring cell carcinoma of the gallbladder NCI2004_11_17:C5745 ICD10CM:Q82.2 MESH:D008415 NCI:C84269 OMIM:154800 SNOMEDCT_US_2016_03_01:125541005 SNOMEDCT_US_2016_03_01:397007003 SNOMEDCT_US_2016_03_01:78745000 UMLS_CUI:C0024899 mast cell hyperplasia disease_ontology DOID:350 OMIM mapping confirmed by DO. [LS]. mastocytosis mast cell hyperplasia CSP2005:4006-0061 A gallbladder carcinoma that derives_from epithelial cells of glandular origin. NCI:C9166 UMLS_CUI:C0279651 adenocarcinoma of the gallbladder disease_ontology DOID:3500 gallbladder adenocarcinoma A gallbladder carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma adenocarcinoma of the gallbladder NCI2004_11_17:C9166 NCI:C6656 UMLS_CUI:C1332249 ampullary signet ring cell carcinoma disease_ontology DOID:3501 ampullary signet ring cell adenocarcinoma An ampulla of Vater carcinoma that derives_from epithelial cells of glandular origin. NCI:C6650 UMLS_CUI:C1332243 ampullary adenocarcinoma disease_ontology adenocarcinoma of ampulla of vater DOID:3502 ampulla of Vater adenocarcinoma An ampulla of Vater carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma ampullary adenocarcinoma NCI2004_11_17:C6650 NCI:C5175 UMLS_CUI:C1335964 Mammary Signet Ring cell carcinoma disease_ontology signet ring cell carcinoma of breast DOID:3503 breast signet ring cell adenocarcinoma Mammary Signet Ring cell carcinoma NCI2004_11_17:C5175 NCI:C5535 UMLS_CUI:C1335520 Signet Ring cell carcinoma of prostate prostate signet ring cell carcinoma disease_ontology DOID:3504 prostate signet ring cell adenocarcinoma Signet Ring cell carcinoma of prostate NCI2004_11_17:C5535 A fibrosarcoma that is located_in the dermis laryer of the skin and that begins as a hard nodule and grows slowly. MESH:D018223 SNOMEDCT_US_2016_03_01:134160009 SNOMEDCT_US_2016_03_01:276799004 SNOMEDCT_US_2016_03_01:302844005 SNOMEDCT_US_2016_03_01:76594008 UMLS_CUI:C0206647 disease_ontology DOID:3507 MESH:C538219 added from NeuroDevNet [WAK]. dermatofibrosarcoma protuberans A fibrosarcoma that is located_in the dermis laryer of the skin and that begins as a hard nodule and grows slowly. url:http://en.wikipedia.org/wiki/Dermatofibrosarcoma_protuberans url:http://www.cancer.gov/dictionary?CdrID=44276 ICD9CM:593.3 UMLS_CUI:C0156261 disease_ontology DOID:3508 stricture or kinking of ureter MESH:D018319 SNOMEDCT_US_2016_03_01:19897006 SNOMEDCT_US_2016_03_01:404037002 UMLS_CUI:C0206729 Neurosarcoma [obs] disease_ontology DOID:3512 neurofibrosarcoma Neurosarcoma [obs] SNOMEDCT_2005_07_31:19897006 NCI:C7809 UMLS_CUI:C0278595 disease_ontology DOID:3516 adult fibrosarcoma NCI:C9429 UMLS_CUI:C1333156 disease_ontology DOID:3517 conventional fibrosarcoma disease_ontology DOID:3519 non-metastatic fibrosarcoma true NCI:C8088 UMLS_CUI:C0279981 disease_ontology DOID:3520 pediatric fibrosarcoma A sarcoma that affects children and is located_in the soft tissues of the body. pediatric sarcoma of the soft tissue disease_ontology DOID:3521 childhood soft tissue sarcoma true A sarcoma that affects children and is located_in the soft tissues of the body. url:http://www.cancer.gov/cancertopics/pdq/treatment/child-soft-tissue-sarcoma/Patient pediatric sarcoma of the soft tissue NCI2004_11_17:C7715 ICD10CM:G46.3 MESH:D014854 NCI:C84807 SNOMEDCT_US_2016_03_01:195193009 SNOMEDCT_US_2016_03_01:78569004 UMLS_CUI:C0043019 Posterior inferior cerebellar artery syndrome (disorder) Wallenberg syndrome disease_ontology DOID:3522 lateral medullary syndrome Posterior inferior cerebellar artery syndrome (disorder) SNOMEDCT_2005_07_31:78569004 Wallenberg syndrome SNOMEDCT_2005_07_31:195193009 MESH:D020526 SNOMEDCT_US_2016_03_01:195191006 SNOMEDCT_US_2016_03_01:195192004 SNOMEDCT_US_2016_03_01:230697005 SNOMEDCT_US_2016_03_01:95457000 UMLS_CUI:C0521542 Brainstem infarction Brainstem infarction NOS Brainstem infarction NOS (disorder) brain stem infarction (disorder) disease_ontology DOID:3523 brain stem infarction Brainstem infarction SNOMEDCT_2005_07_31:195192004 Brainstem infarction NOS SNOMEDCT_2005_07_31:195191006 Brainstem infarction NOS (disorder) SNOMEDCT_2005_07_31:230697005 brain stem infarction (disorder) SNOMEDCT_2005_07_31:95457000 MESH:D020244 UMLS_CUI:C0740392 disease_ontology DOID:3525 middle cerebral artery infarction ICD10CM:I63 ICD10CM:I63.9 MESH:D002544 NCI:C50486 SNOMEDCT_US_2016_03_01:155405006 SNOMEDCT_US_2016_03_01:195188006 SNOMEDCT_US_2016_03_01:195191006 SNOMEDCT_US_2016_03_01:20059004 SNOMEDCT_US_2016_03_01:266256009 SNOMEDCT_US_2016_03_01:266315008 SNOMEDCT_US_2016_03_01:432504007 UMLS_CUI:C0007785 CVA - Cerebral infarction Cerebral infarct Cerebral infarction Cerebral infarction NOS Cerebral infarction NOS (disorder) disease_ontology DOID:3526 cerebral infarction CVA - Cerebral infarction SNOMEDCT_2005_07_31:20059004 Cerebral infarct SNOMEDCT_2005_07_31:155405006 Cerebral infarct SNOMEDCT_2005_07_31:266315008 Cerebral infarction SNOMEDCT_2005_07_31:195188006 Cerebral infarction NOS SNOMEDCT_2005_07_31:195191006 Cerebral infarction NOS (disorder) SNOMEDCT_2005_07_31:266256009 MESH:D002539 UMLS_CUI:C0007774 disease_ontology DOID:3527 cerebral arterial disease MESH:D020243 UMLS_CUI:C0751843 disease_ontology DOID:3528 anterior cerebral artery infarction ICD10CM:G71.2 MESH:D020512 NCI:C83010 OMIM:117000 SNOMEDCT_US_2016_03_01:43152001 UMLS_CUI:C0751951 central core disease central core disease (disorder) disease_ontology DOID:3529 OMIM mapping confirmed by DO. [SN]. central core myopathy central core disease MTHICD9_2006:359.0 central core disease (disorder) SNOMEDCT_2005_07_31:43152001 MESH:D034081 UMLS_CUI:C1135993 disease_ontology DOID:3530 chronic wasting disease A viral infectious disease that results_in infection in ruminants, has_material_basis_in Peste-des-petits-ruminants virus, which is transmitted_by contact with oronasal and ocular secretions, urine, and feces. The infection results_in_formation_of lesions on the gums, lips and palate. Goat plague Ovine rinderpest PPR Pseudorinderpest Stomatitis-Pneumoenteritis Syndrome disease_ontology DOID:3532 peste des petits ruminants infectious disease true A viral infectious disease that results_in infection in ruminants, has_material_basis_in Peste-des-petits-ruminants virus, which is transmitted_by contact with oronasal and ocular secretions, urine, and feces. The infection results_in_formation_of lesions on the gums, lips and palate. url:http://www.cfsph.iastate.edu/Factsheets/pdfs/peste_des_petits_ruminants.pdf PPR SNOMEDCT_2005_07_31:13261002 A Paramyxoviridae infectious disease that results_in infection in dogs, seals, cattle and humans, has_material_basis_in Morbillivirus. disease_ontology DOID:3533 Morbillivirus infectious disease true A Paramyxoviridae infectious disease that results_in infection in dogs, seals, cattle and humans, has_material_basis_in Morbillivirus. url:http://en.wikipedia.org/wiki/Morbillivirus MESH:D020192 NCI:C84804 OMIM:254780 SNOMEDCT_US_2016_03_01:230425004 UMLS_CUI:C0751783 Lafora Progressive Myoclonic Epilepsy Lafora's disease MYOCLONIC EPILEPSY OF LAFORA disease_ontology DOID:3534 OMIM mapping confirmed by DO. [SN]. Lafora disease Lafora's disease CSP2005:0485-7984 MESH:D020194 OMIM:254800 SNOMEDCT_US_2016_03_01:192844008 SNOMEDCT_US_2016_03_01:192847001 SNOMEDCT_US_2016_03_01:230423006 SNOMEDCT_US_2016_03_01:230424000 SNOMEDCT_US_2016_03_01:89480000 UMLS_CUI:C0751785 Unverricht - Lundborg disease Unverricht's disease Unverricht-Lundborg disease disease_ontology DOID:3535 OMIM mapping confirmed by DO. [LS]. Unverricht-Lundborg syndrome Unverricht - Lundborg disease SNOMEDCT_2005_07_31:192847001 Unverricht's disease CSP2005:0485-7984 Unverricht-Lundborg disease SNOMEDCT_2005_07_31:89480000 A cerebral ventricle cancer that is located_in the plexus located_in the ventricles of the brain. MESH:D016545 NCI:C3473 SNOMEDCT_US_2016_03_01:254942002 UMLS_CUI:C0085138 tumor of choroid plexus (disorder) tumor of the Choroid Plexus disease_ontology choroid plexus neoplasm DOID:3540 choroid plexus cancer A cerebral ventricle cancer that is located_in the plexus located_in the ventricles of the brain. url:http://en.wikipedia.org/wiki/Choroid_plexus tumor of choroid plexus (disorder) SNOMEDCT_2005_07_31:254942002 tumor of the Choroid Plexus NCI2004_11_17:C3473 A cerebrum cancer that is located_in the cerebral ventricles. DOID:10856 ICD10CM:C71.5 ICD9CM:191.5 MESH:D002551 NCI:C2937 SNOMEDCT_US_2016_03_01:126958000 SNOMEDCT_US_2016_03_01:188294008 SNOMEDCT_US_2016_03_01:363471001 SNOMEDCT_US_2016_03_01:93748005 UMLS_CUI:C0007798 UMLS_CUI:C0346906 Intraventricular tumor of brain cerebral ventricle neoplasm disease_ontology DOID:3541 cerebral ventricle cancer A cerebrum cancer that is located_in the cerebral ventricles. url:http://en.wikipedia.org/wiki/Ventricular_system Intraventricular tumor of brain NCI2004_11_17:C2937 cerebral ventricle neoplasm CSP2005:2006-2736 NCI:C8568 UMLS_CUI:C0796430 neoplasm of the adult Choroid Plexus disease_ontology adult choroid plexus tumor DOID:3542 adult choroid plexus cancer neoplasm of the adult Choroid Plexus NCI2004_11_17:C8568 NCI:C53686 SNOMEDCT_US_2016_03_01:128904001 UMLS_CUI:C1266176 Atypical Choroid Plexus papilloma Atypical choroid plexus papilloma (morphologic abnormality) disease_ontology DOID:3544 atypical choroid plexus papilloma Atypical Choroid Plexus papilloma NCI2004_11_17:C8382 Atypical choroid plexus papilloma (morphologic abnormality) SNOMEDCT_2005_07_31:128904001 NCI:C42080 UMLS_CUI:C0280623 disease_ontology childhood choroid plexus neoplasm DOID:3545 childhood choroid plexus cancer disease_ontology DOID:3546 somatosensory disorder true ICD10CM:C96.2 ICD9CM:202.6 MESH:D012515 NCI:C9348 SNOMEDCT_US_2016_03_01:118615008 SNOMEDCT_US_2016_03_01:13583002 SNOMEDCT_US_2016_03_01:188660004 SNOMEDCT_US_2016_03_01:188661000 SNOMEDCT_US_2016_03_01:188670002 SNOMEDCT_US_2016_03_01:307591004 SNOMEDCT_US_2016_03_01:397010005 UMLS_CUI:C0036221 disease_ontology DOID:355 mast-cell sarcoma MESH:D013478 NCI:C85175 SNOMEDCT_US_2016_03_01:197006009 SNOMEDCT_US_2016_03_01:24988007 UMLS_CUI:C0038828 Superior mesenteric artery syndrome Superior mesenteric artery syndrome (disorder) disease_ontology DOID:3557 superior mesenteric artery syndrome Superior mesenteric artery syndrome MTHICD9_2006:557.1 Superior mesenteric artery syndrome SNOMEDCT_2005_07_31:24988007 Superior mesenteric artery syndrome (disorder) SNOMEDCT_2005_07_31:197006009 ICD10CM:K31.5 MESH:D004380 NCI:C79548 SNOMEDCT_US_2016_03_01:95532008 UMLS_CUI:C0013292 disease_ontology DOID:3558 duodenal obstruction An appendix cancer that is characterized by progressive accumulation of mucus-secreting tumor cells within the abdomen and pelvis. ICD10:C78.6 MESH:D011553 NCI:C3345 SNOMEDCT_US_2016_03_01:112679004 SNOMEDCT_US_2016_03_01:307601000 UMLS_CUI:C0033822 Pseudomyxoma peritonei (disorder) Pseudomyxoma peritonei (morphologic abnormality) mucinous Ascites disease_ontology DOID:3559 pseudomyxoma peritonei An appendix cancer that is characterized by progressive accumulation of mucus-secreting tumor cells within the abdomen and pelvis. url:http://en.wikipedia.org/wiki/Pseudomyxoma_peritonei url:http://www.cancer.gov/dictionary?CdrID=44256 url:http://www.ncbi.nlm.nih.gov/pubmed/14567019 url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/843/viewAbstract Pseudomyxoma peritonei (disorder) SNOMEDCT_2005_07_31:307601000 Pseudomyxoma peritonei (morphologic abnormality) SNOMEDCT_2005_07_31:112679004 mucinous Ascites NCI2004_11_17:C3345 Mast cell malignancy of intrathoracic lymph nodes (disorder) malignant mast cell tumors involving intrathoracic lymph nodes disease_ontology DOID:356 intrathoracic lymph node mast cell malignancy true Mast cell malignancy of intrathoracic lymph nodes (disorder) SNOMEDCT_2005_07_31:188663002 malignant mast cell tumors involving intrathoracic lymph nodes ICD9CM_2006:202.62 A central nervous system cancer that are manifested in the central nervous system and arise from the arachnoid "cap" cells of the arachnoid villi in the meninges. DOID:1137 DOID:3554 DOID:3567 DOID:4750 ICD10CM:D32.9 MESH:D008577 MESH:D008579 NCI:C3229 NCI:C3230 NCI:C4656 NCI:C6971 NCI:C7048 SNOMEDCT_US_2016_03_01:126965008 SNOMEDCT_US_2016_03_01:127579001 SNOMEDCT_US_2016_03_01:134307003 SNOMEDCT_US_2016_03_01:154621002 SNOMEDCT_US_2016_03_01:189940004 SNOMEDCT_US_2016_03_01:189941000 SNOMEDCT_US_2016_03_01:189945009 SNOMEDCT_US_2016_03_01:269643009 SNOMEDCT_US_2016_03_01:302820008 SNOMEDCT_US_2016_03_01:393566004 UMLS_CUI:C0025284 UMLS_CUI:C0025286 UMLS_CUI:C0349604 UMLS_CUI:C1334698 UMLS_CUI:C1336537 intracranial meningioma meningeal neoplasm meningothelial cell tumor neoplasm of the meninges primary Meningeal tumor supratentorial meningioma disease_ontology DOID:3565 meningioma A central nervous system cancer that are manifested in the central nervous system and arise from the arachnoid "cap" cells of the arachnoid villi in the meninges. url:http://en.wikipedia.org/wiki/Meningioma neoplasm of the meninges NCI2004_11_17:C3229 primary Meningeal tumor NCI2004_11_17:C6971 A viral infectious disease that results_in infection in fish, has_material_basis_in Viral hemorrhagic septicemia virus, which is transmitted_by contact with the contaminated water, or transmitted_by direct contact. The infection has_symptom hemorrhages in the internal organs, skin, and muscle, has_symptom bulging eyes, and has_symptom bloated abdomens. Egtved Disease disease_ontology DOID:3568 viral hemorrhagic septicemia true A viral infectious disease that results_in infection in fish, has_material_basis_in Viral hemorrhagic septicemia virus, which is transmitted_by contact with the contaminated water, or transmitted_by direct contact. The infection has_symptom hemorrhages in the internal organs, skin, and muscle, has_symptom bulging eyes, and has_symptom bloated abdomens. url:http://en.wikipedia.org/wiki/Viral_hemorrhagic_septicemia Mast cell malignancy of lymph nodes of axilla and upper limb (disorder) malignant mast cell tumors involving lymph nodes of axilla and upper limb disease_ontology DOID:357 upper limb lymph node mast cell malignancy true Mast cell malignancy of lymph nodes of axilla and upper limb (disorder) SNOMEDCT_2005_07_31:188665009 malignant mast cell tumors involving lymph nodes of axilla and upper limb ICD9CM_2006:202.64 A gastrointestinal system cancer that is located_in the liver. DOID:12300 DOID:269 DOID:7330 DOID:915 DOID:919 ICD10CM:C22.0 ICD10CM:C22.9 ICD9CM:155.0 ICD9CM:155.2 MESH:D008113 NCI:C34803 NCI:C7692 SNOMEDCT_US_2016_03_01:126851005 SNOMEDCT_US_2016_03_01:154470007 SNOMEDCT_US_2016_03_01:187768001 SNOMEDCT_US_2016_03_01:187771009 SNOMEDCT_US_2016_03_01:187779006 SNOMEDCT_US_2016_03_01:269548006 SNOMEDCT_US_2016_03_01:363361004 SNOMEDCT_US_2016_03_01:93870000 SNOMEDCT_US_2016_03_01:95214007 UMLS_CUI:C0023903 UMLS_CUI:C0024620 UMLS_CUI:C0345904 UMLS_CUI:C0854795 Ca liver - primary (disorder) Resectable malignant neoplasm of Liver ca liver - primary hepatic cancer hepatic neoplasm malignant hepato-biliary neoplasm malignant neoplasm of liver malignant neoplasm of liver (disorder) malignant neoplasm of liver unspecified (disorder) malignant neoplasm of liver, not specified as primary or secondary malignant neoplasm of liver, primary malignant tumor of liver (disorder) neoplasm of liver (disorder) non-resectable primary hepatic malignant neoplasm primary liver cancer primary malignant neoplasm of Liver primary malignant neoplasm of liver primary malignant neoplasm of liver (disorder) primary malignant neoplasm of liver NOS (disorder) resectable malignant neoplasm of the liver disease_ontology DOID:3571 liver cancer A gastrointestinal system cancer that is located_in the liver. url:http://en.wikipedia.org/wiki/Liver Ca liver - primary (disorder) SNOMEDCT_2005_07_31:269548006 Resectable malignant neoplasm of Liver NCI2004_11_17:C7692 hepatic cancer CSP2005:2003-2810 hepatic neoplasm CSP2005:2003-2810 malignant neoplasm of liver (disorder) SNOMEDCT_2005_07_31:93870000 malignant neoplasm of liver unspecified (disorder) SNOMEDCT_2005_07_31:187779006 malignant neoplasm of liver, not specified as primary or secondary ICD9CM_2006:155.2 malignant neoplasm of liver, primary ICD9CM_2006:155.0 malignant tumor of liver (disorder) SNOMEDCT_2005_07_31:363361004 neoplasm of liver (disorder) SNOMEDCT_2005_07_31:126851005 primary malignant neoplasm of Liver NCI2004_11_17:C34803 primary malignant neoplasm of liver SNOMEDCT_2005_07_31:187768001 SNOMEDCT_2005_07_31:93870000 primary malignant neoplasm of liver (disorder) SNOMEDCT_2005_07_31:95214007 primary malignant neoplasm of liver NOS (disorder) SNOMEDCT_2005_07_31:187771009 MESH:D012851 UMLS_CUI:C0037198 disease_ontology DOID:3572 intracranial sinus thrombosis MESH:D020227 SNOMEDCT_US_2016_03_01:192761004 SNOMEDCT_US_2016_03_01:21258007 UMLS_CUI:C0270639 Thrombosis of lateral venous sinus (disorder) Thrombosis transverse sinus (disorder) disease_ontology DOID:3574 lateral sinus thrombosis Thrombosis of lateral venous sinus (disorder) SNOMEDCT_2005_07_31:21258007 Thrombosis transverse sinus (disorder) SNOMEDCT_2005_07_31:192761004 MESH:D020226 SNOMEDCT_US_2016_03_01:89980009 UMLS_CUI:C0238454 Thrombosis of cavernous venous sinus (disorder) disease_ontology DOID:3575 cavernous sinus thrombosis Thrombosis of cavernous venous sinus (disorder) SNOMEDCT_2005_07_31:89980009 MESH:D020225 SNOMEDCT_US_2016_03_01:192760003 SNOMEDCT_US_2016_03_01:70607008 UMLS_CUI:C0338575 Thrombosis of superior longitudinal sinus (disorder) Thrombosis of superior sagittal sinus (disorder) disease_ontology DOID:3576 sagittal sinus thrombosis Thrombosis of superior longitudinal sinus (disorder) SNOMEDCT_2005_07_31:192760003 Thrombosis of superior sagittal sinus (disorder) SNOMEDCT_2005_07_31:70607008 MESH:D012707 NCI:C39976 SNOMEDCT_US_2016_03_01:128857001 SNOMEDCT_US_2016_03_01:189738002 SNOMEDCT_US_2016_03_01:89089007 UMLS_CUI:C0036769 tubular androblastoma NOS (morphologic abnormality) disease_ontology DOID:3577 Sertoli cell tumor tubular androblastoma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189738002 NCI:C39985 UMLS_CUI:C1518716 disease_ontology DOID:3578 ovarian gonadoblastoma NCI:C39911 UMLS_CUI:C1515283 disease_ontology DOID:3579 testicular gonadoblastoma testicular mixed germ cell-Sex Cord tumor disease_ontology DOID:3580 testicular mixed germ cell-sex cord-stromal neoplasm true testicular mixed germ cell-Sex Cord tumor NCI2004_11_17:C7322 disease_ontology DOID:3583 enterotoxemia true clostridial infection disease_ontology DOID:3584 commensal Clostridium infectious disease true clostridial infection CSP2005:0368-2583 disease_ontology DOID:3586 Puerperal pyrexia of unknown origin true A pancreatic carcinoma located_in the pancreatic duct. DOID:10023 ICD10CM:C25.3 ICD9CM:157.3 MESH:D021441 SNOMEDCT_US_2016_03_01:187793004 SNOMEDCT_US_2016_03_01:93939009 UMLS_CUI:C0153461 UMLS_CUI:C0887833 malignant neoplasm of duct of Wirsung pancreatic duct cancer disease_ontology DOID:3587 pancreatic ductal carcinoma A pancreatic carcinoma located_in the pancreatic duct. url:http://en.wikipedia.org/wiki/Pancreatic_cancer url:http://en.wikipedia.org/wiki/Pancreatic_duct malignant neoplasm of duct of Wirsung MTHICD9_2006:157.3 disease_ontology DOID:3589 Poor Prognosis metastatic Gestational Trophoblastic tumor true DOID:14071 DOID:3598 ICD10CM:O01 ICD10CM:O01.0 ICD10CM:O01.9 ICD9CM:630 MESH:D006828 MESH:D031901 NCI:C3110 NCI:C4699 NCI:C7887 OMIM:231090 SNOMEDCT_US_2016_03_01:123300001 SNOMEDCT_US_2016_03_01:156085008 SNOMEDCT_US_2016_03_01:189856005 SNOMEDCT_US_2016_03_01:198610008 SNOMEDCT_US_2016_03_01:198611007 SNOMEDCT_US_2016_03_01:235323008 SNOMEDCT_US_2016_03_01:236118006 SNOMEDCT_US_2016_03_01:237251001 SNOMEDCT_US_2016_03_01:367455000 SNOMEDCT_US_2016_03_01:41491009 SNOMEDCT_US_2016_03_01:416441004 SNOMEDCT_US_2016_03_01:417044008 SNOMEDCT_US_2016_03_01:417475006 SNOMEDCT_US_2016_03_01:44782008 SNOMEDCT_US_2016_03_01:48430004 SNOMEDCT_US_2016_03_01:609517002 SNOMEDCT_US_2016_03_01:609519004 UMLS_CUI:C0020217 UMLS_CUI:C0278796 UMLS_CUI:C1135868 gestational trophoblastic neoplasia hydatidiform mole molar pregnancy disease_ontology DOID:3590 OMIM mapping confirmed by DO. [SN]. gestational trophoblastic neoplasm gestational trophoblastic neoplasia NCI2004_11_17:C4699 molar pregnancy CSP2005:2403-0989 NCI2004_11_17:C3110 disease_ontology DOID:3591 Nonmetastatic Gestational Trophoblastic tumor true NCI:C6900 SNOMEDCT_US_2016_03_01:128767001 SNOMEDCT_US_2016_03_01:609515005 UMLS_CUI:C1266159 disease_ontology DOID:3593 epithelioid trophoblastic tumor ICD10CM:C58 MESH:D002822 NCI:C2948 SNOMEDCT_US_2016_03_01:188188009 SNOMEDCT_US_2016_03_01:189444004 SNOMEDCT_US_2016_03_01:44769000 UMLS_CUI:C0008497 Chorioepithelioma disease_ontology DOID:3594 choriocarcinoma Chorioepithelioma NCI2004_11_17:C2948 MESH:D018245 NCI:C3757 SNOMEDCT_US_2016_03_01:237252008 SNOMEDCT_US_2016_03_01:75320001 UMLS_CUI:C0206666 Placental site trophoblastic tumor (disorder) Placental site trophoblastic tumor (morphologic abnormality) Placental-Site Gestational Trophoblastic neoplasm disease_ontology DOID:3596 placental site trophoblastic tumor Placental site trophoblastic tumor (disorder) SNOMEDCT_2005_07_31:237252008 Placental site trophoblastic tumor (morphologic abnormality) SNOMEDCT_2005_07_31:75320001 Placental-Site Gestational Trophoblastic neoplasm NCI2004_11_17:C3757 disease_ontology DOID:3597 Good Prognosis metastatic Gestational Trophoblastic tumor true A nervous system disease that results from exposure to neurotoxicants and is characterized by an altered mental status, memory loss, and visual problems. MESH:D020258 NCI:C27961 SNOMEDCT_US_2016_03_01:19466003 UMLS_CUI:C0235032 neurotoxicity neurotoxicity syndrome disease_ontology DOID:3602 toxic encephalopathy neurotoxicity NCI2004_11_17:C27961 A nervous system disease that results from exposure to neurotoxicants and is characterized by an altered mental status, memory loss, and visual problems. url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3521923/ url:https\://en.wikipedia.org/wiki/Toxic_encephalopathy neurotoxicity CSP2005:4006-0067 A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with a capsulated structure and mucus-producing cells. MESH:D018282 NCI:C3776 SNOMEDCT_US_2016_03_01:189692006 SNOMEDCT_US_2016_03_01:79143006 UMLS_CUI:C0206699 Pseudomucinous cystadenocarcinoma mucinous cystadenocarcinoma (morphologic abnormality) mucinous cystadenocarcinoma NOS (morphologic abnormality) disease_ontology DOID:3603 mucinous cystadenocarcinoma A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with a capsulated structure and mucus-producing cells. url:http://www.wisegeek.com/what-is-a-mucinous-cystadenocarcinoma.htm Pseudomucinous cystadenocarcinoma NCI2004_11_17:C3776 mucinous cystadenocarcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:79143006 mucinous cystadenocarcinoma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189692006 NCI:C4026 SNOMEDCT_US_2016_03_01:254851009 UMLS_CUI:C0279665 Ovarian mucinous cystadenocarcinoma mucinous cystadenocarcinoma of ovary (disorder) disease_ontology DOID:3604 ovarian mucinous cystadenocarcinoma Ovarian mucinous cystadenocarcinoma NCI2004_11_17:C4026 mucinous cystadenocarcinoma of ovary (disorder) SNOMEDCT_2005_07_31:254851009 NCI:C5228 SNOMEDCT_US_2016_03_01:314191009 UMLS_CUI:C1096638 cystadenocarcinoma of ovary (disorder) cystadenocarcinoma of the Ovary disease_ontology DOID:3605 ovarian cystadenocarcinoma cystadenocarcinoma of ovary (disorder) SNOMEDCT_2005_07_31:314191009 cystadenocarcinoma of the Ovary NCI2004_11_17:C5228 NCI:C5243 UMLS_CUI:C1335167 mucinous carcinoma of Ovary disease_ontology DOID:3606 ovarian mucinous adenocarcinoma mucinous carcinoma of Ovary NCI2004_11_17:C5243 NCI:C5511 UMLS_CUI:C1096639 Colloidal cystadenocarcinoma of the appendix disease_ontology DOID:3607 appendix mucinous cystadenocarcinoma Colloidal cystadenocarcinoma of the appendix NCI2004_11_17:C5511 An appendix carcinoma that derives_from epithelial cells of glandular origin. NCI:C7718 SNOMEDCT_US_2016_03_01:413445002 UMLS_CUI:C0238003 Appendiceal adenocarcinoma adenocarcinoma of appendix (disorder) disease_ontology adenocarcinoma of appendix DOID:3608 appendix adenocarcinoma An appendix carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma Appendiceal adenocarcinoma NCI2004_11_17:C7718 adenocarcinoma of appendix (disorder) SNOMEDCT_2005_07_31:413445002 NCI:C40354 UMLS_CUI:C1511318 disease_ontology DOID:3609 breast mucinous cystadenocarcinoma NCI:C27623 SNOMEDCT_US_2016_03_01:61640006 UMLS_CUI:C0269107 Endometriosis of cervix cervical Endometriosis disease_ontology DOID:361 cervix endometriosis Endometriosis of cervix SNOMEDCT_2005_07_31:61640006 cervical Endometriosis NCI2004_11_17:C27623 NCI:C9131 SNOMEDCT_US_2016_03_01:444712000 UMLS_CUI:C1334807 Invasive mucinous breast carcinoma disease_ontology mucinous carcinoma of breast DOID:3610 breast mucinous carcinoma Invasive mucinous breast carcinoma NCI2004_11_17:C9131 MESH:D015882 SNOMEDCT_US_2016_03_01:231986000 UMLS_CUI:C0035319 acute retinal necrosis disease_ontology DOID:3611 acute retinal necrosis syndrome acute retinal necrosis SNOMEDCT_2005_07_31:231986000 ICD10CM:H30.9 MESH:D012173 NCI:C115993 SNOMEDCT_US_2016_03_01:193450000 SNOMEDCT_US_2016_03_01:35426003 SNOMEDCT_US_2016_03_01:399463004 UMLS_CUI:C0035333 disease_ontology DOID:3612 retinitis MESH:D017825 NCI:C84611 OMIM:271900 SNOMEDCT_US_2016_03_01:80544005 UMLS_CUI:C0206307 CANAVAN-VAN BOGAERT-BERTRAND DISEASE Spongy degeneration of central nervous system disease_ontology DOID:3613 OMIM mapping confirmed by DO. [SN]. Canavan disease Spongy degeneration of central nervous system SNOMEDCT_2005_07_31:80544005 A hypogonadotropic hypogonadism with a defective sense of smell (anosmia or hyposmia). ICD10CM:E23.0 MESH:D017436 NCI:C75479 ORDO:478 SNOMEDCT_US_2016_03_01:190559001 SNOMEDCT_US_2016_03_01:33927004 SNOMEDCT_US_2016_03_01:93559003 UMLS_CUI:C0162809 Hypogonadism with anosmia (disorder) Kallman syndrome Kallman's syndrome familial hypogonadism with anosmia disease_ontology DOID:3614 Kallmann syndrome A hypogonadotropic hypogonadism with a defective sense of smell (anosmia or hyposmia). url:https://www.ncbi.nlm.nih.gov/pubmed/26194704 Hypogonadism with anosmia (disorder) SNOMEDCT_2005_07_31:93559003 Kallman syndrome SNOMEDCT_2005_07_31:33927004 Kallman's syndrome SNOMEDCT_2005_07_31:190559001 familial hypogonadism with anosmia CSP2005:2586-8846 NCI:C7449 SNOMEDCT_US_2016_03_01:189781004 SNOMEDCT_US_2016_03_01:24045002 UMLS_CUI:C1305256 Angiolipoma, infiltrating (morphologic abnormality) Infiltrating angiolipoma disease_ontology DOID:3615 infiltrating angiolipoma Angiolipoma, infiltrating (morphologic abnormality) SNOMEDCT_2005_07_31:189781004 Infiltrating angiolipoma SNOMEDCT_2005_07_31:24045002 A lipoma that is a painful subcutaneous nodule, having all other features of a typical lipoma. MESH:D018206 NCI:C3733 SNOMEDCT_US_2016_03_01:189780003 SNOMEDCT_US_2016_03_01:404057003 SNOMEDCT_US_2016_03_01:73219006 UMLS_CUI:C0206632 disease_ontology DOID:3616 angiolipoma A lipoma that is a painful subcutaneous nodule, having all other features of a typical lipoma. url:http://en.wikipedia.org/wiki/Angiolipoma NCI:C5424 UMLS_CUI:C1333416 Angiolipoma of Extradural Spinal canal disease_ontology DOID:3617 epidural spinal canal angiolipoma Angiolipoma of Extradural Spinal canal NCI2004_11_17:C5424 MESH:D015174 NCI:C3019 UMLS_CUI:C0014536 Extradural tumor disease_ontology DOID:3618 epidural neoplasm Extradural tumor NCI2004_11_17:C3019 A nervous system cancer that is located_in the central nervous system. DOID:0060093 DOID:1318 EFO:0000326 ICD10CM:C72.9 MESH:D016543 NCI:C4627 NCI:C9293 SNOMEDCT_US_2016_03_01:126951006 SNOMEDCT_US_2016_03_01:190135002 SNOMEDCT_US_2016_03_01:372062007 SNOMEDCT_US_2016_03_01:93744007 UMLS_CUI:C0085136 UMLS_CUI:C0348374 CNS neoplasm central nervous system tumor central nervous system tumors malignant neoplasm of central nervous system, NOS malignant tumor of CNS neoplasm of central nervous system (disorder) disease_ontology DOID:3620 central nervous system cancer A nervous system cancer that is located_in the central nervous system. url:http://en.wikipedia.org/wiki/Central_nervous_system CNS neoplasm CSP2005:2012-5421 central nervous system tumors NCI2004_11_17:C9293 malignant neoplasm of central nervous system, NOS SNOMEDCT_2005_07_31:93744007 malignant tumor of CNS NCI2004_11_17:C4627 neoplasm of central nervous system (disorder) SNOMEDCT_2005_07_31:126951006 disease_ontology DOID:3621 central nervous system neuroepithelial neoplasm true An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size. DOID:11138 DOID:7682 DOID:7692 DOID:7703 ICD10CM:I71.1 ICD10CM:I71.3 ICD10CM:I71.5 ICD10CM:I71.8 ICD10CM:I71.9 ICD9CM:441.1 ICD9CM:441.3 ICD9CM:441.5 ICD9CM:441.6 MESH:D001014 MESH:D001019 NCI:C26697 NCI:C27046 NCI:C27198 NCI:C27299 SNOMEDCT_US_2016_03_01:14336007 SNOMEDCT_US_2016_03_01:155419006 SNOMEDCT_US_2016_03_01:155423003 SNOMEDCT_US_2016_03_01:155424009 SNOMEDCT_US_2016_03_01:195258006 SNOMEDCT_US_2016_03_01:195264004 SNOMEDCT_US_2016_03_01:195265003 SNOMEDCT_US_2016_03_01:195269009 SNOMEDCT_US_2016_03_01:195615002 SNOMEDCT_US_2016_03_01:34365005 SNOMEDCT_US_2016_03_01:67362008 SNOMEDCT_US_2016_03_01:73067008 UMLS_CUI:C0003486 UMLS_CUI:C0265010 UMLS_CUI:C0265012 UMLS_CUI:C0741160 UMLS_CUI:C1305122 Aortic aneurysm of unspecified site, ruptured Aortic aneurysm of unspecified site, ruptured (disorder) Ruptured Aortic Aneurysm Ruptured Thoracic Aneurysm Ruptured abdominal Aortic Aneurysm Ruptured abdominal aortic aneurysm (disorder) Ruptured aortic aneurysm (disorder) Ruptured aortic aneurysm NOS Ruptured aortic aneurysm NOS (disorder) Ruptured thoracic aortic aneurysm (disorder) Thoracic aortic aneurysm which has ruptured (disorder) Thoracic aortic aneurysm, ruptured Thoracoabdominal aortic aneurysm, ruptured (disorder) abdominal aortic aneurysm, ruptured ruptured abdominal aortic aneurysm ruptured aortic aneurysm ruptured thoracic aortic aneurysm ruptured thoracoabdominal aortic aneurysm disease_ontology DOID:3627 aortic aneurysm An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size. url:http://en.wikipedia.org/wiki/Aortic_aneurysm Aortic aneurysm of unspecified site, ruptured ICD9CM_2006:441.5 Aortic aneurysm of unspecified site, ruptured (disorder) SNOMEDCT_2005_07_31:195615002 Ruptured Aortic Aneurysm NCI2004_11_17:C27198 Ruptured Thoracic Aneurysm NCI2004_11_17:C27299 Ruptured abdominal Aortic Aneurysm NCI2004_11_17:C27046 Ruptured abdominal aortic aneurysm (disorder) SNOMEDCT_2005_07_31:14336007 Ruptured aortic aneurysm (disorder) SNOMEDCT_2005_07_31:73067008 Ruptured aortic aneurysm NOS SNOMEDCT_2005_07_31:155423003 Ruptured aortic aneurysm NOS (disorder) SNOMEDCT_2005_07_31:195264004 Ruptured thoracic aortic aneurysm (disorder) SNOMEDCT_2005_07_31:34365005 Thoracic aortic aneurysm which has ruptured (disorder) SNOMEDCT_2005_07_31:195258006 Thoracic aortic aneurysm, ruptured ICD9CM_2006:441.1 Thoracoabdominal aortic aneurysm, ruptured (disorder) SNOMEDCT_2005_07_31:195265003 abdominal aortic aneurysm, ruptured ICD9CM_2006:441.3 A female reproductive organ cancer that is located_in the uterus. DOID:4363 ICD10CM:C55 ICD9CM:179 MESH:D014594 NCI:C3435 NCI:C3552 SNOMEDCT_US_2016_03_01:126908007 SNOMEDCT_US_2016_03_01:156169001 SNOMEDCT_US_2016_03_01:188173004 SNOMEDCT_US_2016_03_01:269613007 SNOMEDCT_US_2016_03_01:371973000 SNOMEDCT_US_2016_03_01:93718007 SNOMEDCT_US_2016_03_01:94127009 UMLS_CUI:C0042138 UMLS_CUI:C0153567 CA - cancer of uterus Ca uterus NOS Tumour of uterus malignant neoplasm of uterus (disorder) malignant uterine tumor neoplasm of uterus (disorder) uterine tumor uterus neoplasm disease_ontology DOID:363 uterine cancer A female reproductive organ cancer that is located_in the uterus. url:http://www.cancer.gov/dictionary?CdrID=445094 CA - cancer of uterus SNOMEDCT_2005_07_31:93718007 Ca uterus NOS SNOMEDCT_2005_07_31:269613007 Tumour of uterus SNOMEDCT_2005_07_31:156169001 malignant neoplasm of uterus (disorder) SNOMEDCT_2005_07_31:371973000 malignant uterine tumor NCI2004_11_17:C3552 neoplasm of uterus (disorder) SNOMEDCT_2005_07_31:126908007 uterine tumor NCI2004_11_17:C3435 uterus neoplasm CSP2005:2016-1566 A lysosomal storage disease that has_material_basis_in deficiency of the beta-A-manosidase enzyme resulting in the disruption of N-linked glycoprotein oligosaccharide catabolism. MESH:D044905 NCI:C84596 OMIM:248510 SNOMEDCT_US_2016_03_01:238047006 UMLS_CUI:C4048196 Beta-D-mannosidosis (disorder) beta-mannosidase deficiency lysosomal beta-mannosidase deficiency disease_ontology DOID:3633 OMIM mapping confirmed by DO. [SN]. beta-mannosidosis A lysosomal storage disease that has_material_basis_in deficiency of the beta-A-manosidase enzyme resulting in the disruption of N-linked glycoprotein oligosaccharide catabolism. url:http://en.wikipedia.org/wiki/Beta-mannosidosis Beta-D-mannosidosis (disorder) SNOMEDCT_2005_07_31:238047006 A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic). MESH:D020294 NCI:C84647 OMIM:PS601462 ORDO:590 SNOMEDCT_US_2016_03_01:230672006 UMLS_CUI:C0751882 familial limb-girdle myasthenia disease_ontology DOID:3635 Xref MGI. congenital myasthenic syndrome A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic). url:http://en.wikipedia.org/wiki/Congenital_myasthenic_syndrome url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=590 disease_ontology DOID:3636 commensal Desulfovibrionaceae infectious disease true NCI:C9234 UMLS_CUI:C1134515 childhood Spinal Cord neoplasm disease_ontology DOID:3637 childhood spinal cord tumor childhood Spinal Cord neoplasm NCI2004_11_17:C9234 NCI:C5428 UMLS_CUI:C1334259 Intramedullary Spinal teratoma disease_ontology DOID:3639 spinal cord intramedullary teratoma Intramedullary Spinal teratoma NCI2004_11_17:C5428 Nontraumatic rupture of bladder (disorder) [Ambiguous] Rupture of bladder, nontraumatic spontaneous rupture of bladder (disorder) disease_ontology DOID:364 spontaneous rupture of bladder true Nontraumatic rupture of bladder (disorder) [Ambiguous] SNOMEDCT_2005_07_31:840001 Rupture of bladder, nontraumatic ICD9CM_2006:596.6 spontaneous rupture of bladder (disorder) SNOMEDCT_2005_07_31:197881002 NCI:C5441 UMLS_CUI:C1332895 CNS teratoma disease_ontology DOID:3640 central nervous system teratoma CNS teratoma NCI2004_11_17:C5441 NCI:C5443 UMLS_CUI:C1333153 tumor of Conus Medullaris disease_ontology DOID:3641 conus medullaris neoplasm tumor of Conus Medullaris NCI2004_11_17:C5443 MESH:D004652 NCI:C84686 SNOMEDCT_US_2016_03_01:190489005 SNOMEDCT_US_2016_03_01:237722004 SNOMEDCT_US_2016_03_01:393569006 UMLS_CUI:C0014008 Empty sella syndrome Empty sella syndrome (disorder) disease_ontology DOID:3642 empty sella syndrome Empty sella syndrome SNOMEDCT_2005_07_31:190489005 Empty sella syndrome SNOMEDCT_2005_07_31:393569006 Empty sella syndrome (disorder) SNOMEDCT_2005_07_31:237722004 NCI:C4944 UMLS_CUI:C0748616 tumor of Sella Turcica disease_ontology DOID:3643 sella turcica neoplasm tumor of Sella Turcica NCI2004_11_17:C4944 MESH:D007029 NCI:C3129 SNOMEDCT_US_2016_03_01:254968009 UMLS_CUI:C0020659 neoplasm of the Hypothalamus tumor of hypothalamus (disorder) disease_ontology DOID:3644 hypothalamic neoplasm neoplasm of the Hypothalamus NCI2004_11_17:C3129 tumor of hypothalamus (disorder) SNOMEDCT_2005_07_31:254968009 NCI:C27066 SNOMEDCT_US_2016_03_01:59572000 UMLS_CUI:C0271558 Pituitary necrosis necrosis of pituitary (disorder) disease_ontology DOID:3646 necrosis of pituitary Pituitary necrosis NCI2004_11_17:C27066 necrosis of pituitary (disorder) SNOMEDCT_2005_07_31:59572000 Inborn error of pyruvate metabolism (disorder) disease_ontology DOID:3648 inborn errors pyruvate metabolism true Inborn error of pyruvate metabolism (disorder) SNOMEDCT_2005_07_31:53210006 A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex. ICD10CM:E74.4 MESH:D015325 NCI:C103968 OMIM:245348 OMIM:245349 OMIM:312170 OMIM:608782 OMIM:614111 ORDO:79243 SNOMEDCT_US_2016_03_01:124160001 SNOMEDCT_US_2016_03_01:124593001 SNOMEDCT_US_2016_03_01:190761008 SNOMEDCT_US_2016_03_01:46683007 UMLS_CUI:C0034345 deficiency of pyruvic dehydrogenase pyruvate dehydrogenase complex deficiency disease pyruvate dehydrogenase deficiency disease_ontology DOID:3649 Xref MGI. OMIM mapping confirmed by DO. [SN]. pyruvate decarboxylase deficiency A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex. url:http://en.wikipedia.org/wiki/Pyruvate_dehydrogenase_deficiency url:http://ghr.nlm.nih.gov/condition/pyruvate-dehydrogenase-deficiency url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/413/viewAbstract deficiency of pyruvic dehydrogenase SNOMEDCT_2005_07_31:124160001 deficiency of pyruvic dehydrogenase SNOMEDCT_2005_07_31:46683007 pyruvate dehydrogenase deficiency SNOMEDCT_2005_07_31:190761008 A urinary system disease that is located_in the bladder. ICD10CM:N32.9 ICD9CM:596.9 MESH:D001745 NCI:C2900 SNOMEDCT_US_2016_03_01:155886002 SNOMEDCT_US_2016_03_01:155890000 SNOMEDCT_US_2016_03_01:197897007 SNOMEDCT_US_2016_03_01:266630005 SNOMEDCT_US_2016_03_01:42643001 UMLS_CUI:C0005686 Urinary Bladder Disease disease_ontology DOID:365 bladder disease A urinary system disease that is located_in the bladder. url:http://www.nlm.nih.gov/medlineplus/bladderdiseases.html An acquired metabolic disease that has_material_basis_in low pH in body tissues and blood accompanied by the buildup of lactate especially D-lactate. ICD10CM:E87.2 MESH:D000140 NCI:C98969 SNOMEDCT_US_2016_03_01:91273001 UMLS_CUI:C0001125 disease_ontology DOID:3650 lactic acidosis An acquired metabolic disease that has_material_basis_in low pH in body tissues and blood accompanied by the buildup of lactate especially D-lactate. url:http://en.wikipedia.org/wiki/Lactic_acidosis ICD10CM:E74.4 MESH:D015324 NCI:C85040 OMIM:266150 SNOMEDCT_US_2016_03_01:124716008 SNOMEDCT_US_2016_03_01:87694001 UMLS_CUI:C0034341 deficiency of pyruvic carboxylase disease_ontology DOID:3651 OMIM mapping confirmed by DO. [SN]. pyruvate carboxylase deficiency disease deficiency of pyruvic carboxylase SNOMEDCT_2005_07_31:124716008 deficiency of pyruvic carboxylase SNOMEDCT_2005_07_31:87694001 A mitochondrial metabolism disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity. ICD10CM:G31.82 MESH:D007888 NCI:C84814 OMIM:220111 OMIM:256000 ORDO:506 SNOMEDCT_US_2016_03_01:29570005 UMLS_CUI:C0023264 Infantile necrotizing encephalomyelopathy Leigh syndrome juvenile subacute necrotizing encephalomyelopathy disease_ontology subacute necrotizing encephalomyelopathy DOID:3652 Xref MGI. OMIM mapping confirmed by DO. [SN]. Leigh disease A mitochondrial metabolism disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity. url:http://en.wikipedia.org/wiki/Leigh%27s_disease url:http://ghr.nlm.nih.gov/condition/leigh-syndrome url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/392/viewAbstract Infantile necrotizing encephalomyelopathy MTHICD9_2006:330.8 subacute necrotizing encephalomyelopathy CSP2005:1254-7727 laboratory infection disease_ontology DOID:3653 laboratory infectious disease true laboratory infection CSP2005:2119-8616 A lysosomal storage disease characterized by increased sialic acid in the urine. MESH:D029461 NCI:C85067 OMIM:269921 OMIM:604369 SNOMEDCT_US_2016_03_01:238051008 UMLS_CUI:C0342853 disease_ontology DOID:3659 OMIM mapping confirmed by DO. [LS]. OMIM mapping submitted by NeuroDevNet. [LS]. sialuria A lysosomal storage disease characterized by increased sialic acid in the urine. url:http://en.wikipedia.org/wiki/Sialuria url:http://www.ncbi.nlm.nih.gov/books/NBK1164/ url:http://www.omim.org/entry/269921 NCI:C5121 SNOMEDCT_US_2016_03_01:126967000 UMLS_CUI:C0346319 neoplasm of olfactory nerve (disorder) tumor of Olfactory nerve disease_ontology DOID:366 olfactory nerve neoplasm neoplasm of olfactory nerve (disorder) SNOMEDCT_2005_07_31:126967000 tumor of Olfactory nerve NCI2004_11_17:C5121 MESH:D021182 SNOMEDCT_US_2016_03_01:420174000 UMLS_CUI:C0949570 allergy to wheat wheat allergic reaction disease_ontology DOID:3660 wheat allergy MESH:D034701 NCI:C7137 SNOMEDCT_US_2016_03_01:397012002 SNOMEDCT_US_2016_03_01:703827008 UMLS_CUI:C1136033 CM Cutaneous mastocytosis (disorder) disease_ontology DOID:3663 cutaneous mastocytosis CM NCI2004_11_17:C7137 Cutaneous mastocytosis (disorder) SNOMEDCT_2005_07_31:397012002 A hematologic cancer that has_material_basis_in mast cells. ICD10CM:D47.0 NCI:C9295 SNOMEDCT_US_2016_03_01:127581004 SNOMEDCT_US_2016_03_01:190021001 SNOMEDCT_US_2016_03_01:414653009 SNOMEDCT_US_2016_03_01:89796001 UMLS_CUI:C0334664 Mast cell Proliferative disease mast cell tumor mastocytoma disease_ontology DOID:3664 mast cell neoplasm A hematologic cancer that has_material_basis_in mast cells. url:http://en.wikipedia.org/wiki/Mastocytoma url:http://www.cancer.gov/dictionary?CdrID=410729 Mast cell Proliferative disease NCI2004_11_17:C9295 mastocytoma NCI2004_11_17:C9303 MESH:D034701 NCI:C3218 SNOMEDCT_US_2016_03_01:703826004 UMLS_CUI:C0024901 Diffuse Cutaneous Mastocytosis disease_ontology DOID:3665 diffuse cutaneous mastocytosis Diffuse Cutaneous Mastocytosis NCI2004_11_17:C3218 Solitary Mastocytoma of skin Solitary mastocytoma disease_ontology DOID:3666 cutaneous solitary mastocytoma Solitary Mastocytoma of skin NCI2004_11_17:C7138 Solitary mastocytoma SNOMEDCT_2005_07_31:397013007 A Picornaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Cardiovirus. disease_ontology DOID:3667 Cardiovirus infectious disease true A Picornaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Cardiovirus. url:http://vir.sgmjournals.org/cgi/content/full/91/6/1418 A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Picornaviridae viruses. disease_ontology DOID:3668 Picornaviridae infectious disease true A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Picornaviridae viruses. url:http://en.wikipedia.org/wiki/Picornaviridae ICD10CM:I73.9 MESH:D007383 SNOMEDCT_US_2016_03_01:155430009 SNOMEDCT_US_2016_03_01:195312007 SNOMEDCT_US_2016_03_01:63491006 UMLS_CUI:C0021775 Charcot's syndrome Intermittent claudication Intermittent claudication (disorder) Intermittent claudication NOS disease_ontology DOID:3669 intermittent claudication Charcot's syndrome CSP2005:0413-3711 Charcot's syndrome CSP2005:0571-6915 Charcot's syndrome CSP2005:4000-0117 Intermittent claudication SNOMEDCT_2005_07_31:155430009 Intermittent claudication SNOMEDCT_2005_07_31:195312007 Intermittent claudication (disorder) SNOMEDCT_2005_07_31:63491006 Intermittent claudication NOS MTHICD9_2006:443.9 ICD10CM:G52.0 ICD9CM:352.0 MESH:D020431 NCI:C27210 SNOMEDCT_US_2016_03_01:68982002 UMLS_CUI:C0751937 disorder of 1st nerve disorder of olfactory [1st] nerve disorder of olfactory nerve (disorder) disease_ontology DOID:367 olfactory nerve disease disorder of 1st nerve MTHICD9_2006:352.0 disorder of 1st nerve NCI2004_11_17:C27210 disorder of olfactory [1st] nerve ICD9CM_2006:352.0 disorder of olfactory nerve (disorder) SNOMEDCT_2005_07_31:68982002 MESH:D010497 SNOMEDCT_US_2016_03_01:22240003 UMLS_CUI:C0031055 disease_ontology DOID:3671 pericoronitis A childhood kidney neoplasm that is located_in the in the kidney as well as other locations outside the kidneys such as the liver, muscle, heart, lung, soft tissues, skin, the central nervous system. MESH:D018335 NCI:C3808 SNOMEDCT_US_2016_03_01:189812005 SNOMEDCT_US_2016_03_01:83118000 UMLS_CUI:C0206743 Rhabdoid sarcoma malignant rhabdoid tumour disease_ontology rhabdoid tumor DOID:3672 rhabdoid cancer A childhood kidney neoplasm that is located_in the in the kidney as well as other locations outside the kidneys such as the liver, muscle, heart, lung, soft tissues, skin, the central nervous system. url:http://www.cancer.iu.edu/renaltumors/rhabdoid/facts/ Rhabdoid sarcoma NCI2004_11_17:C3808 Rhabdoid sarcoma SNOMEDCT_2005_07_31:189812005 malignant rhabdoid tumour SNOMEDCT_2005_07_31:83118000 A embryonal cancer that is located in the kidney. NCI:C8715 UMLS_CUI:C0854917 renal Rhabdoid tumor disease_ontology kidney rhabdoid tumor DOID:3674 kidney rhabdoid cancer A embryonal cancer that is located in the kidney. url:http://www.childrenshospital.org/az/Site1526/mainpageS1526P0.html renal Rhabdoid tumor NCI2004_11_17:C8715 NCI:C6563 UMLS_CUI:C1333003 pediatric renal tumor disease_ontology DOID:3675 childhood kidney neoplasm pediatric renal tumor NCI2004_11_17:C6563 MESH:D016726 SNOMEDCT_US_2016_03_01:1648002 SNOMEDCT_US_2016_03_01:254641006 SNOMEDCT_US_2016_03_01:707373004 UMLS_CUI:C0085269 Lymphocytic pseudotumor of lung Sclerosing hemangiocytoma of lung granuloma, plasma cell, pulmonary disease_ontology DOID:3677 pulmonary plasma cell granuloma Lymphocytic pseudotumor of lung SNOMEDCT_2005_07_31:1648002 Sclerosing hemangiocytoma of lung SNOMEDCT_2005_07_31:254641006 A supratentorial cancer that is located_in the cerebrum. DOID:912 ICD9CM:191.8 NCI:C4874 SNOMEDCT_US_2016_03_01:126953009 SNOMEDCT_US_2016_03_01:188300006 SNOMEDCT_US_2016_03_01:188304002 UMLS_CUI:C0153642 UMLS_CUI:C1263885 cerebral cancer neoplasm of cerebrum (disorder) tumor of Cerebrum disease_ontology DOID:368 cerebrum cancer A supratentorial cancer that is located_in the cerebrum. url:http://en.wikipedia.org/wiki/Cerebrum neoplasm of cerebrum (disorder) SNOMEDCT_2005_07_31:126953009 tumor of Cerebrum NCI2004_11_17:C4874 DOID:8722 DOID:8862 DOID:8894 DOID:8952 malignant Oral cavity neoplasm malignant Oral neoplasm malignant Pharyngeal tumor malignant neoplasm of mouth malignant neoplasm of mouth NOS (disorder) malignant neoplasm of mouth, unspecified malignant neoplasm of oral cavity NOS malignant neoplasm of other specified mouth parts (disorder) malignant neoplasm of other specified parts of mouth malignant neoplasm of palate NOS (disorder) malignant neoplasm of palate unspecified (disorder) malignant neoplasm of palate, unspecified malignant neoplasm of pharynx malignant neoplasm of pharynx unspecified (disorder) malignant neoplasm of pharynx, NOS malignant neoplasm of pharynx, unspecified malignant neoplasm of roof of mouth malignant tumor of oral cavity (disorder) malignant tumor of palate (disorder) malignant tumor of pharynx (disorder) malignant tumor of the Palate malignant tumour of mouth disease_ontology DOID:3680 malignant neoplasm of lip, oral cavity and pharynx true malignant Oral cavity neoplasm NCI2004_11_17:C9314 malignant Oral neoplasm NCI2004_11_17:C9316 malignant Pharyngeal tumor NCI2004_11_17:C7545 malignant neoplasm of mouth MTH:NOCODE malignant neoplasm of mouth NOS (disorder) SNOMEDCT_2005_07_31:187670000 malignant neoplasm of oral cavity NOS MTHICD9_2006:145.9 malignant neoplasm of other specified mouth parts (disorder) SNOMEDCT_2005_07_31:187669001 malignant neoplasm of palate NOS (disorder) SNOMEDCT_2005_07_31:187667004 malignant neoplasm of palate unspecified (disorder) SNOMEDCT_2005_07_31:187665007 malignant neoplasm of pharynx MTH:NOCODE malignant neoplasm of pharynx unspecified (disorder) SNOMEDCT_2005_07_31:187714006 malignant neoplasm of pharynx, NOS SNOMEDCT_2005_07_31:93961004 malignant neoplasm of roof of mouth MTHICD9_2006:145.5 SNOMEDCT_2005_07_31:93935003 malignant tumor of oral cavity (disorder) SNOMEDCT_2005_07_31:363505006 malignant tumor of palate (disorder) SNOMEDCT_2005_07_31:363390005 malignant tumor of pharynx (disorder) SNOMEDCT_2005_07_31:363507003 malignant tumor of the Palate NCI2004_11_17:C3530 malignant tumour of mouth SNOMEDCT_2005_07_31:93897007 MESH:D008175 NCI:C3200 SNOMEDCT_US_2016_03_01:126713003 UMLS_CUI:C0024121 tumor of the lung disease_ontology DOID:3683 lung benign neoplasm tumor of the lung NCI2004_11_17:C3200 Helicobacter Pylori Infection disease_ontology DOID:3686 Helicobacter pylori infectious disease true Helicobacter Pylori Infection NCI2004_11_17:C39293 ICD10CM:E88.41 MESH:D017241 NCI:C84885 OMIM:540000 SNOMEDCT_US_2016_03_01:240097009 SNOMEDCT_US_2016_03_01:39925003 UMLS_CUI:C0162671 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES disease_ontology DOID:3687 OMIM mapping confirmed by DO. [SN]. MELAS syndrome NCI:C27744 UMLS_CUI:C1335437 disease_ontology DOID:3688 plexopathy ICD10CM:G54.5 MESH:D020968 NCI:C84600 SNOMEDCT_US_2016_03_01:156642003 SNOMEDCT_US_2016_03_01:26609002 SNOMEDCT_US_2016_03_01:268079007 SNOMEDCT_US_2016_03_01:3548001 SNOMEDCT_US_2016_03_01:72893007 UMLS_CUI:C0221759 Brachial neuritis Brachial neuritis (disorder) Parsonage-Aldren-Turner syndrome disease_ontology DOID:3689 brachial plexus neuritis Brachial neuritis SNOMEDCT_2005_07_31:156642003 Brachial neuritis SNOMEDCT_2005_07_31:268079007 Brachial neuritis SNOMEDCT_2005_07_31:3548001 Brachial neuritis (disorder) SNOMEDCT_2005_07_31:72893007 Parsonage-Aldren-Turner syndrome MTHICD9_2006:353.5 Parsonage-Aldren-Turner syndrome SNOMEDCT_2005_07_31:26609002 MESH:D018304 NCI:C3789 NCI:C6016 SNOMEDCT_US_2016_03_01:189937004 SNOMEDCT_US_2016_03_01:189938009 SNOMEDCT_US_2016_03_01:422886007 SNOMEDCT_US_2016_03_01:68614005 SNOMEDCT_US_2016_03_01:76060004 UMLS_CUI:C0206717 Asthesioneuroblastoma (morphologic abnormality) Esthesioneuroblastoma (morphologic abnormality) Esthesioneuroepithelioma (morphologic abnormality) Esthesioneuroepithelioma [dup] (morphologic abnormality) Olfactory Esthesioneuroblastoma paranasal sinus Olfactory neuroblastoma disease_ontology DOID:369 olfactory neuroblastoma Asthesioneuroblastoma (morphologic abnormality) SNOMEDCT_2005_07_31:189937004 Esthesioneuroblastoma (morphologic abnormality) SNOMEDCT_2005_07_31:76060004 Esthesioneuroepithelioma (morphologic abnormality) SNOMEDCT_2005_07_31:68614005 Esthesioneuroepithelioma [dup] (morphologic abnormality) SNOMEDCT_2005_07_31:189938009 Olfactory Esthesioneuroblastoma NCI2004_11_17:C3789 paranasal sinus Olfactory neuroblastoma NCI2004_11_17:C6016 ICD10CM:G54.0 MESH:D020516 NCI:C27194 SNOMEDCT_US_2016_03_01:3548001 UMLS_CUI:C0700251 Brachial plexus disorder brachial plexopathy disease_ontology DOID:3690 brachial plexus neuropathy Brachial plexus disorder SNOMEDCT_2005_07_31:3548001 brachial plexopathy NCI2004_11_17:C27194 An anus carcinoma that derives_from epithelial cells of glandular origin located_in the anal colloid. NCI:C5606 UMLS_CUI:C1332272 mucinous adenocarcinoma of anus disease_ontology DOID:3691 anal colloid adenocarcinoma An anus carcinoma that derives_from epithelial cells of glandular origin located_in the anal colloid. url:http://en.wikipedia.org/wiki/Adenocarcinoma mucinous adenocarcinoma of anus NCI2004_11_17:C5606 An anal canal cancer that derives_from epithelial cells of glandular origin. NCI:C7471 UMLS_CUI:C1332259 adenocarcinoma of the anal canal disease_ontology adenocarcinoma of anal canal DOID:3692 anal canal adenocarcinoma An anal canal cancer that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma adenocarcinoma of the anal canal NCI2004_11_17:C7471 NCI:C27416 UMLS_CUI:C1332248 disease_ontology DOID:3693 ampulla of Vater mucinous adenocarcinoma disease_ontology DOID:3694 adnexal mucinous adenocarcinoma true adenocarcinoma of the skin Appendage disease_ontology adenocarcinoma of the adnexa DOID:3695 adnexa adenocarcinoma true adenocarcinoma of the skin Appendage NCI2004_11_17:C5571 A acute transudative otitis media which involves bloody effusion. ICD9CM:381.03 SNOMEDCT_US_2016_03_01:77478005 UMLS_CUI:C0395865 disease_ontology DOID:3696 acute sanguinous otitis media A acute transudative otitis media which involves bloody effusion. url:http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA127&lpg#v=onepage&q=&f=false A non-suppurative otitis media and eustachian tube disorder with a sudden onset and a short course. ICD9CM:381.0 ICD9CM:381.00 SNOMEDCT_US_2016_03_01:11957006 SNOMEDCT_US_2016_03_01:155218001 SNOMEDCT_US_2016_03_01:194238001 SNOMEDCT_US_2016_03_01:194239009 SNOMEDCT_US_2016_03_01:194244002 SNOMEDCT_US_2016_03_01:35183001 SNOMEDCT_US_2016_03_01:359609001 SNOMEDCT_US_2016_03_01:36958006 UMLS_CUI:C0271432 acute non-suppurative otitis media acute nonsuppurative otitis media acute otitis media with effusion acute secretory otitis media acute transudative otitis media disease_ontology DOID:3697 acute transudative otitis media A non-suppurative otitis media and eustachian tube disorder with a sudden onset and a short course. url:http://books.google.com/books?id=UQ-rOpK6oScC&pg=PA3&lpg#v=onepage&q=&f=false url:http://www.ncbi.nlm.nih.gov/sites/entrez/1195971 acute non-suppurative otitis media SNOMEDCT_2005_07_31:155218001 acute nonsuppurative otitis media ICD9CM_2006:381.0 acute otitis media with effusion SNOMEDCT_2005_07_31:270490007 acute secretory otitis media SNOMEDCT_2005_07_31:194239009 acute transudative otitis media SNOMEDCT_2005_07_31:35183001 NCI:C5846 UMLS_CUI:C0861856 mucinous carcinoma of the bile duct disease_ontology DOID:3698 bile duct mucinous adenocarcinoma mucinous carcinoma of the bile duct NCI2004_11_17:C5846 NCI:C40137 UMLS_CUI:C1519869 disease_ontology DOID:3699 uterine ligament mucinous adenocarcinoma An integumentary system disease that is located_in skin. DOID:1576 DOID:1698 DOID:187 DOID:6486 DOID:8948 ICD9CM:702 MESH:D012871 MESH:D012873 NCI:C27554 NCI:C3371 SNOMEDCT_US_2016_03_01:156292006 SNOMEDCT_US_2016_03_01:156396006 SNOMEDCT_US_2016_03_01:156400006 SNOMEDCT_US_2016_03_01:156445005 SNOMEDCT_US_2016_03_01:199879009 SNOMEDCT_US_2016_03_01:200580005 SNOMEDCT_US_2016_03_01:201095006 SNOMEDCT_US_2016_03_01:201107006 SNOMEDCT_US_2016_03_01:239001006 SNOMEDCT_US_2016_03_01:267806002 SNOMEDCT_US_2016_03_01:267859000 SNOMEDCT_US_2016_03_01:267860005 SNOMEDCT_US_2016_03_01:267873009 SNOMEDCT_US_2016_03_01:5613003 SNOMEDCT_US_2016_03_01:80659006 SNOMEDCT_US_2016_03_01:95320005 UMLS_CUI:C0029574 UMLS_CUI:C0037274 UMLS_CUI:C0037277 Genodermatosis skin and subcutaneous tissue disease disease_ontology DOID:37 skin disease An integumentary system disease that is located_in skin. url:http://en.wikipedia.org/wiki/Skin_disease Genodermatosis SNOMEDCT_2005_07_31:239001006 malignant tumor of Olfactory nerve primary malignant neoplasm of olfactory nerve disease_ontology DOID:370 malignant olfactory nerve tumor true malignant tumor of Olfactory nerve NCI2004_11_17:C4768 primary malignant neoplasm of olfactory nerve SNOMEDCT_2005_07_31:93930008 NCI:C40135 UMLS_CUI:C1519866 disease_ontology DOID:3700 uterine ligament adenocarcinoma NCI:C36095 UMLS_CUI:C1332919 disease_ontology DOID:3701 cervical mucinous adenocarcinoma A cervix carcinoma that derives_from epithelial cells of glandular origin. NCI:C4029 SNOMEDCT_US_2016_03_01:154522004 SNOMEDCT_US_2016_03_01:254887002 SNOMEDCT_US_2016_03_01:269596006 UMLS_CUI:C0279672 adenocarcinoma cervix uteri adenocarcinoma of cervix (disorder) adenocarcinoma of the uterine Cervix disease_ontology DOID:3702 cervical adenocarcinoma A cervix carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma adenocarcinoma cervix uteri SNOMEDCT_2005_07_31:154522004 adenocarcinoma cervix uteri SNOMEDCT_2005_07_31:269596006 adenocarcinoma of cervix (disorder) SNOMEDCT_2005_07_31:254887002 adenocarcinoma of the uterine Cervix NCI2004_11_17:C4029 NCI:C5537 UMLS_CUI:C1335513 acinar Colloid prostate adenocarcinoma disease_ontology DOID:3703 prostate colloid adenocarcinoma acinar Colloid prostate adenocarcinoma NCI2004_11_17:C5537 NCI:C40103 UMLS_CUI:C1517119 disease_ontology DOID:3704 fallopian tube mucinous adenocarcinoma NCI:C40109 UMLS_CUI:C1517120 disease_ontology DOID:3705 fallopian tube mucinous tumor A fallopian tube carcinoma that derives_from epithelial cells of glandular origin. NCI:C6265 UMLS_CUI:C1333590 adenocarcinoma of the fallopian tube disease_ontology DOID:3706 fallopian tube adenocarcinoma A fallopian tube carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma adenocarcinoma of the fallopian tube NCI2004_11_17:C6265 NCI:C40144 UMLS_CUI:C1519859 uterine Corpus mucinous adenocarcinoma disease_ontology DOID:3707 endometrial mucinous adenocarcinoma uterine Corpus mucinous adenocarcinoma NCI2004_11_17:C40144 NCI:C7973 UMLS_CUI:C0279652 Colloidal adenocarcinoma of rectum disease_ontology DOID:3709 rectum mucinous adenocarcinoma Colloidal adenocarcinoma of rectum NCI2004_11_17:C7973 NCI:C5437 UMLS_CUI:C1333499 disease_ontology DOID:371 extracranial neuroblastoma NCI:C39837 UMLS_CUI:C1511193 disease_ontology DOID:3710 bladder colloid adenocarcinoma A bladder carcinoma that derives_from epithelial cells of glandular origin. NCI:C39836 NCI:C4032 SNOMEDCT_US_2016_03_01:255110003 UMLS_CUI:C0279682 adenocarcinoma of bladder (disorder) adenocarcinoma of the urinary bladder bladder adenocarcinoma, Not Otherwise Specified disease_ontology DOID:3711 bladder adenocarcinoma A bladder carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma adenocarcinoma of bladder (disorder) SNOMEDCT_2005_07_31:255110003 adenocarcinoma of the urinary bladder NCI2004_11_17:C4032 bladder adenocarcinoma, Not Otherwise Specified NCI2004_11_17:C39836 An ovarian carcinoma that derives_from epithelial cells of glandular origin. DOID:7816 NCI:C7700 UMLS_CUI:C0948216 Ovarian adenocarcinoma ovarian adenoacanthoma disease_ontology adenocarcinoma of the ovary DOID:3713 ovary adenocarcinoma An ovarian carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma Ovarian adenocarcinoma NCI2004_11_17:C7700 A non-suppurative otitis media which involves obstruction of the collecting lymphatic tubules of the middle ear and eustachian tube as they drain to the retropharyngeal lymphatics. Retraction of the tympanic membrane is also observed. disease_ontology DOID:3715 non-suppurative otitis media and eustachian tube disorder true A non-suppurative otitis media which involves obstruction of the collecting lymphatic tubules of the middle ear and eustachian tube as they drain to the retropharyngeal lymphatics. Retraction of the tympanic membrane is also observed. url:http://www.ncbi.nlm.nih.gov/sites/entrez/1195971 NCI:C5248 UMLS_CUI:C1334809 mucinous adenocarcinoma of the stomach disease_ontology DOID:3716 mucinous stomach adenocarcinoma mucinous adenocarcinoma of the stomach NCI2004_11_17:C5248 A stomach carcinoma that derives_from epithelial cells of glandular origin. NCI:C4004 SNOMEDCT_US_2016_03_01:408647009 UMLS_CUI:C0278701 adenocarcinoma of stomach (disorder) stomach adenocarcinoma disease_ontology DOID:3717 gastric adenocarcinoma A stomach carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma adenocarcinoma of stomach (disorder) SNOMEDCT_2005_07_31:408647009 stomach adenocarcinoma NCI2004_11_17:C4004 A Arteriviridae infectious disease that results_in infection in animals, has_material_basis_in Arterivirus. disease_ontology DOID:3718 Arterivirus infectious disease true A Arteriviridae infectious disease that results_in infection in animals, has_material_basis_in Arterivirus. url:http://en.wikipedia.org/wiki/Arterivirus ICD10CM:C90.2 ICD10CM:C90.20 NCI:C4002 SNOMEDCT_US_2016_03_01:10639003 SNOMEDCT_US_2016_03_01:109987008 SNOMEDCT_US_2016_03_01:128921005 SNOMEDCT_US_2016_03_01:188718006 UMLS_CUI:C0278619 Extramedullary plasmacytoma Extramedullary plasmacytoma (clinical) extraosseous plasmacytoma plasmacytoma, extramedullary (not occurring in bone) disease_ontology DOID:3720 extramedullary plasmacytoma Extramedullary plasmacytoma SNOMEDCT_2005_07_31:10639003 Extramedullary plasmacytoma (clinical) SNOMEDCT_2005_07_31:109987008 Extramedullary plasmacytoma (clinical) SNOMEDCT_2005_07_31:188718006 extraosseous plasmacytoma NCI2004_11_17:C4002 plasmacytoma, extramedullary (not occurring in bone) SNOMEDCT_2005_07_31:128921005 ICD10CM:C90.3 ICD10CM:C90.30 MESH:D010954 NCI:C6932 NCI:C9349 SNOMEDCT_US_2016_03_01:10639003 SNOMEDCT_US_2016_03_01:109987008 SNOMEDCT_US_2016_03_01:154644004 SNOMEDCT_US_2016_03_01:188719003 SNOMEDCT_US_2016_03_01:188720009 SNOMEDCT_US_2016_03_01:189507001 SNOMEDCT_US_2016_03_01:190016004 SNOMEDCT_US_2016_03_01:190017008 SNOMEDCT_US_2016_03_01:190019006 SNOMEDCT_US_2016_03_01:269652000 SNOMEDCT_US_2016_03_01:274907000 SNOMEDCT_US_2016_03_01:302852008 SNOMEDCT_US_2016_03_01:308122007 SNOMEDCT_US_2016_03_01:415112005 UMLS_CUI:C0032131 Myeloma - solitary Myeloma, solitary Solitary myeloma Solitary plasmacytoma disease_ontology DOID:3721 plasmacytoma Myeloma - solitary SNOMEDCT_2005_07_31:189507001 Myeloma, solitary SNOMEDCT_2005_07_31:269652000 Solitary myeloma MTHICD9_2006:238.6 Solitary plasmacytoma NCI2004_11_17:C6932 NCI:C7812 SNOMEDCT_US_2016_03_01:42215000 SNOMEDCT_US_2016_03_01:426336007 UMLS_CUI:C0272256 Isolated osseous plasmacytoma Solitary plasmacytoma of bone disease_ontology DOID:3722 solitary osseous plasmacytoma Isolated osseous plasmacytoma NCI2004_11_17:C7812 Solitary plasmacytoma of bone SNOMEDCT_2005_07_31:42215000 NCI:C6711 UMLS_CUI:C1332936 Solitary plasmacytoma of the Chest Wall disease_ontology DOID:3723 solitary plasmacytoma of chest wall Solitary plasmacytoma of the Chest Wall NCI2004_11_17:C6711 disorder of puerperium (disorder) disorder of the puerperium puerperal disorder disease_ontology DOID:3726 puerperal disease true disorder of puerperium (disorder) SNOMEDCT_2005_07_31:362973001 disorder of the puerperium SNOMEDCT_2005_07_31:156262002 puerperal disorder CSP2005:2404-6473 A acute sanguinous otitis media caused by an allergen. ICD9CM:381.06 SNOMEDCT_US_2016_03_01:17866004 SNOMEDCT_US_2016_03_01:194243008 UMLS_CUI:C0155420 disease_ontology DOID:3728 acute allergic sanguinous otitis media A acute sanguinous otitis media caused by an allergen. url:http://www.ncbi.nlm.nih.gov/pubmed/15301306 A Paramyxoviridae infectious disease that results_in infection, has_material_basis_in Respirovirus, which is transmitted_by contact with the respiratory secretions of an infected person. disease due to Paramyxovirus (disorder) disease_ontology DOID:3729 Respirovirus infectious disease true A Paramyxoviridae infectious disease that results_in infection, has_material_basis_in Respirovirus, which is transmitted_by contact with the respiratory secretions of an infected person. url:http://expasy.org/viralzone/all_by_species/87.html disease due to Paramyxovirus (disorder) SNOMEDCT_2005_07_31:84118005 infant nutrition disorder disease_ontology DOID:373 infant nutrition disorder true infant nutrition disorder CSP2005:2116-7820 A Pasteurella infectious disease that involves infection by the bacterium Mannheimia haemolytica and less frequently by Pasteurella multocida and Histophilus somni. After stress or viral infection, the replication rate of M. haemolytica in the upper respiratory tract increases rapidly, followed by inhalation and colonization of the lungs due to suppression of the host's defense mechanism. The bacterium produces exotoxin called leukotxin which interacts with the host's defense mechanism resulting in tissue damage with charactersistic necrosis, thrombosis, and exudation and the development of pneumonia. Pneumonic pasteurellosis disease_ontology DOID:3730 pneumonic pasteurellosis true A Pasteurella infectious disease that involves infection by the bacterium Mannheimia haemolytica and less frequently by Pasteurella multocida and Histophilus somni. After stress or viral infection, the replication rate of M. haemolytica in the upper respiratory tract increases rapidly, followed by inhalation and colonization of the lungs due to suppression of the host's defense mechanism. The bacterium produces exotoxin called leukotxin which interacts with the host's defense mechanism resulting in tissue damage with charactersistic necrosis, thrombosis, and exudation and the development of pneumonia. url:http://merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/121216.htm Pneumonic pasteurellosis SNOMEDCT_2005_07_31:61532009 disease_ontology DOID:3731 primary Pasteurellaceae infectious disease true A pneumonia which has a multifactorial etiology and develops as a result of complex interactions between environmental factors, host factors, and pathogens leading to pulmonary lesions caused by various micro organisms ( essentially viruses and bacteria). Environmental factors (eg, weaning, transport, commingling, crowding, and inadequate ventilation) serve as stressors that adversely affect the immune and nonimmune defense mechanisms of the host. In addition, certain environmental factors (eg, crowding and inadequate ventilation) can enhance the transmission of infectious agents among animals. disease_ontology DOID:3732 bovine respiratory disease complex true A pneumonia which has a multifactorial etiology and develops as a result of complex interactions between environmental factors, host factors, and pathogens leading to pulmonary lesions caused by various micro organisms ( essentially viruses and bacteria). Environmental factors (eg, weaning, transport, commingling, crowding, and inadequate ventilation) serve as stressors that adversely affect the immune and nonimmune defense mechanisms of the host. In addition, certain environmental factors (eg, crowding and inadequate ventilation) can enhance the transmission of infectious agents among animals. url:http://merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/121205.htm url:http://www.jstor.org/stable/pdfplus/1349519.pdf A parasitic protozoa infectious disease that involves infection of humans and cattle caused by a genus of parasitic protozoa Theileria, which is transmitted by ixodid ticks. MESH:D013801 SNOMEDCT_US_2016_03_01:68771000 UMLS_CUI:C0039753 Infection by Theileria (disorder) theileriosis disease_ontology DOID:3733 theileriasis A parasitic protozoa infectious disease that involves infection of humans and cattle caused by a genus of parasitic protozoa Theileria, which is transmitted by ixodid ticks. url:http://en.wikipedia.org/wiki/East_Coast_fever Infection by Theileria (disorder) SNOMEDCT_2005_07_31:68771000 A squamous cell carcinoma that is a diffuse, papillary, non metastasizing, well differentiated, malignant neoplasm of epidermis or oral epithelium. MESH:D018289 NCI:C3781 SNOMEDCT_US_2016_03_01:189563000 SNOMEDCT_US_2016_03_01:403904009 SNOMEDCT_US_2016_03_01:89906000 UMLS_CUI:C0206706 Warty carcinoma verrucous carcinoma NOS (morphologic abnormality) verrucous squamous carcinoma verrucous squamous cell carcinoma (disorder) disease_ontology DOID:3737 verrucous carcinoma A squamous cell carcinoma that is a diffuse, papillary, non metastasizing, well differentiated, malignant neoplasm of epidermis or oral epithelium. url:http://en.wikipedia.org/wiki/Verrucous_carcinoma Warty carcinoma SNOMEDCT_2005_07_31:399408005 Warty carcinoma SNOMEDCT_2005_07_31:89906000 verrucous carcinoma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189563000 verrucous squamous carcinoma NCI2004_11_17:C3781 verrucous squamous cell carcinoma (disorder) SNOMEDCT_2005_07_31:403904009 A human papillomavirus related carcinoma that results_in infection, has_material_basis_in human papillomavirus (types 16, or 18), which cause malignant tumors in squamous epithelium in genital and periungual areas. HPV-Related squamous cell carcinoma disease_ontology DOID:3739 human papillomavirus related squamous cell carcinoma true A human papillomavirus related carcinoma that results_in infection, has_material_basis_in human papillomavirus (types 16, or 18), which cause malignant tumors in squamous epithelium in genital and periungual areas. url:http://emedicine.medscape.com/article/219110-overview url:http://en.wikipedia.org/wiki/Squamous_cell_carcinoma HPV-Related squamous cell carcinoma NCI2004_11_17:C27683 An acquired metabolic disease that is characterized by an insufficient intake of food or of certain nutrients, by an inability of the body to absorb and use nutrients, or by overconsumption of certain foods. MESH:D009748 NCI:C26836 SNOMEDCT_US_2016_03_01:191077005 SNOMEDCT_US_2016_03_01:2492009 UMLS_CUI:C3714509 Nutritional disorder disease_ontology DOID:374 nutrition disease An acquired metabolic disease that is characterized by an insufficient intake of food or of certain nutrients, by an inability of the body to absorb and use nutrients, or by overconsumption of certain foods. url:http://www.who.int/topics/nutrition_disorders/en/ Nutritional disorder NCI2004_11_17:C26836 NCI:C6383 UMLS_CUI:C1336983 verrucous carcinoma of Vulva disease_ontology DOID:3740 vulva verrucous carcinoma verrucous carcinoma of Vulva NCI2004_11_17:C6383 NCI:C39832 UMLS_CUI:C1511208 disease_ontology DOID:3741 bladder verrucous squamous cell carcinoma A carcinoma of bladder that is manifested in squamous cells of the bladder. NCI:C4031 SNOMEDCT_US_2016_03_01:255111004 UMLS_CUI:C0279681 Epidermoid carcinoma of the urinary bladder squamous cell carcinoma of bladder (disorder) disease_ontology DOID:3742 bladder squamous cell carcinoma A carcinoma of bladder that is manifested in squamous cells of the bladder. url:http://www.cancer.gov/cancertopics/types/bladder Epidermoid carcinoma of the urinary bladder NCI2004_11_17:C4031 squamous cell carcinoma of bladder (disorder) SNOMEDCT_2005_07_31:255111004 NCI:C40190 UMLS_CUI:C1516435 disease_ontology DOID:3743 cervical verrucous carcinoma A cervix carcinoma that has_material_basis_in squamous cells of the cervix. NCI:C4028 SNOMEDCT_US_2016_03_01:254886006 UMLS_CUI:C0279671 squamous cell carcinoma of cervix (disorder) squamous cell carcinoma of the Cervix Uteri disease_ontology DOID:3744 cervical squamous cell carcinoma A cervix carcinoma that has_material_basis_in squamous cells of the cervix. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma url:http://www.cancer.gov/dictionary?CdrID=752829 squamous cell carcinoma of cervix (disorder) SNOMEDCT_2005_07_31:254886006 squamous cell carcinoma of the Cervix Uteri NCI2004_11_17:C4028 NCI:C27420 UMLS_CUI:C1333470 verrucous carcinoma of esophagus disease_ontology verrucous carcinoma of the esophagus DOID:3747 esophagus verrucous carcinoma verrucous carcinoma of esophagus NCI2004_11_17:C27420 An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus. MESH:C562729 NCI:C4024 SNOMEDCT_US_2016_03_01:276804009 UMLS_CUI:C0279626 SCC of esophagus squamous cell carcinoma of esophagus (disorder) disease_ontology squamous cell carcinoma of esophagus DOID:3748 OMIM mapping confirmed by DO. [SN]. esophagus squamous cell carcinoma An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus. url:http://www.cancer.gov/cancertopics/types/esophageal SCC of esophagus NCI2004_11_17:C4024 squamous cell carcinoma of esophagus (disorder) SNOMEDCT_2005_07_31:276804009 NCI:C39874 UMLS_CUI:C1519827 disease_ontology DOID:3749 urethral verrucous carcinoma A cancer of urethra that shows squamous cell differentiation. NCI:C6165 UMLS_CUI:C1336890 urethral Epidermoid carcinoma disease_ontology DOID:3750 urethra squamous cell carcinoma A cancer of urethra that shows squamous cell differentiation. url:http://en.wikipedia.org/wiki/Squamous_cell_carcinoma urethral Epidermoid carcinoma NCI2004_11_17:C6165 NCI:C6811 UMLS_CUI:C1335424 disease_ontology DOID:3751 plantar verrucous skin carcinoma NCI:C8188 UMLS_CUI:C0280328 verrucous carcinoma of the Larynx disease_ontology DOID:3752 larynx verrucous carcinoma verrucous carcinoma of the Larynx NCI2004_11_17:C8188 An autosomal recessive disease characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin. ICD10CM:E70.331 MESH:D022861 NCI:C37261 ORDO:231531 ORDO:231537 ORDO:280663 ORDO:79430 SNOMEDCT_US_2016_03_01:190697008 SNOMEDCT_US_2016_03_01:60255003 SNOMEDCT_US_2016_03_01:9311003 UMLS_CUI:C0079504 HPS (Hermansky Pudlak syndrome) disease_ontology DOID:3753 Xref MGI. OMIM mapping confirmed by DO. [SN]. Hermansky-Pudlak syndrome An autosomal recessive disease characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin. url:http://en.wikipedia.org/wiki/Hermansky%E2%80%93Pudlak_syndrome url:http://ghr.nlm.nih.gov/condition/hermansky-pudlak-syndrome url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/946/viewAbstract HPS (Hermansky Pudlak syndrome) CSP2005:0446-1413 An inherited blood coagulation disease characterized by the tendency to form clots in the veins. ICD10CM:D68.59 MESH:D020152 NCI:C98815 OMIM:613118 SNOMEDCT_US_2016_03_01:36351005 UMLS_CUI:C0272375 AT III deficiency hereditary thrombophilia due to congenital antithrombin deficiency disease_ontology DOID:3755 Xref MGI. antithrombin III deficiency An inherited blood coagulation disease characterized by the tendency to form clots in the veins. url:http://en.wikipedia.org/wiki/Antithrombin_III_deficiency url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/99/viewAbstract ICD10CM:D68.59 MESH:D020151 NCI:C99025 SNOMEDCT_US_2016_03_01:76407009 UMLS_CUI:C0398625 disease_ontology DOID:3756 protein C deficiency disease_ontology DOID:3758 Fusobacterium infectious disease true MESH:D030401 NCI:C98910 OMIM:220110 SNOMEDCT_US_2016_03_01:124199009 SNOMEDCT_US_2016_03_01:237991006 SNOMEDCT_US_2016_03_01:67434000 UMLS_CUI:C0268237 MITOCHONDRIAL COMPLEX IV DEFICIENCY disease_ontology DOID:3762 OMIM mapping confirmed by DO. [SN]. cytochrome-c oxidase deficiency disease MESH:D012734 NCI:C45909 SNOMEDCT_US_2016_03_01:237821001 SNOMEDCT_US_2016_03_01:52572004 UMLS_CUI:C0019269 disease_ontology DOID:3763 hermaphroditism An autosomal dominant disease that is characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma that derives_from an abnormality in the WT1 gene (Wilms' tumor suppressor gene). MESH:D030321 NCI:C84668 OMIM:194080 SNOMEDCT_US_2016_03_01:236385009 UMLS_CUI:C0950121 disease_ontology DOID:3764 OMIM mapping confirmed by DO. [SN]. Denys-Drash syndrome An autosomal dominant disease that is characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma that derives_from an abnormality in the WT1 gene (Wilms' tumor suppressor gene). url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1049926/ url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=220&lng=EN DOID:11226 ICD10CM:Q56 ICD10CM:Q56.3 ICD9CM:752.7 MESH:D012734 SNOMEDCT_US_2016_03_01:204895009 SNOMEDCT_US_2016_03_01:204897001 SNOMEDCT_US_2016_03_01:268229003 SNOMEDCT_US_2016_03_01:268328009 SNOMEDCT_US_2016_03_01:75164001 UMLS_CUI:C0021193 UMLS_CUI:C0033804 Indeterminate sex and pseudohermaphroditism disease_ontology DOID:3765 pseudohermaphroditism ICD10CM:N89.8 MESH:D007973 NCI:C34775 SNOMEDCT_US_2016_03_01:11057009 SNOMEDCT_US_2016_03_01:156017008 SNOMEDCT_US_2016_03_01:237101004 SNOMEDCT_US_2016_03_01:266664009 SNOMEDCT_US_2016_03_01:278070007 SNOMEDCT_US_2016_03_01:289552002 SNOMEDCT_US_2016_03_01:70856007 UMLS_CUI:C0023533 Leukorrhea of vagina discharge - leukorrhea disease_ontology DOID:3766 leukorrhea Leukorrhea of vagina MTHICD9_2006:623.5 discharge - leukorrhea SNOMEDCT_2005_07_31:266664009 MESH:D019522 NCI:C50795 SNOMEDCT_US_2016_03_01:139439007 SNOMEDCT_US_2016_03_01:162159008 SNOMEDCT_US_2016_03_01:198369007 SNOMEDCT_US_2016_03_01:271939006 SNOMEDCT_US_2016_03_01:70856007 UMLS_CUI:C0227791 disease_ontology DOID:3767 vaginal discharge MESH:D011658 NCI:C26869 SNOMEDCT_US_2016_03_01:155613001 SNOMEDCT_US_2016_03_01:196121006 SNOMEDCT_US_2016_03_01:51615001 UMLS_CUI:C0034069 Fibrosis of lung disease_ontology DOID:3770 pulmonary fibrosis Fibrosis of lung SNOMEDCT_2005_07_31:51615001 MESH:D008579 NCI:C5273 UMLS_CUI:C1334271 disease_ontology DOID:3772 intraventricular meningioma NCI:C5592 SNOMEDCT_US_2016_03_01:128789002 UMLS_CUI:C1322252 Chordoid glioma of 3rd Ventricle Chordoid glioma of third ventricle disease_ontology DOID:3773 third ventricle chordoid glioma Chordoid glioma of 3rd Ventricle NCI2004_11_17:C6961 Chordoid glioma of third ventricle SNOMEDCT_2005_07_31:128789002 NCI:C5592 SNOMEDCT_US_2016_03_01:128789002 UMLS_CUI:C1322252 Chordoid glioma Chordoid glioma (morphologic abnormality) disease_ontology DOID:3774 chordoid glioma Chordoid glioma NCI2004_11_17:C5592 Chordoid glioma (morphologic abnormality) SNOMEDCT_2005_07_31:128789002 ICD10CM:L92.0 MESH:D016460 NCI:C3470 SNOMEDCT_US_2016_03_01:156368000 SNOMEDCT_US_2016_03_01:200953005 SNOMEDCT_US_2016_03_01:267850001 SNOMEDCT_US_2016_03_01:65508009 UMLS_CUI:C0085074 Granuloma annulare Granuloma annulare (disorder) Granulome annulare disease_ontology DOID:3777 granuloma annulare Granuloma annulare SNOMEDCT_2005_07_31:200953005 Granuloma annulare (disorder) SNOMEDCT_2005_07_31:65508009 Granulome annulare SNOMEDCT_2005_07_31:156368000 Granulome annulare SNOMEDCT_2005_07_31:267850001 MESH:D000858 NCI:C34388 SNOMEDCT_US_2016_03_01:34571000 UMLS_CUI:C0003128 disease_ontology DOID:3781 anovulation MESH:D038921 NCI:C84643 OMIM:303600 SNOMEDCT_US_2016_03_01:15182000 UMLS_CUI:C0265252 Coffin-Lowry syndrome (disorder) disease_ontology DOID:3783 OMIM mapping confirmed by DO. [SN]. Coffin-Lowry syndrome Coffin-Lowry syndrome (disorder) SNOMEDCT_2005_07_31:15182000 DOID:13122 DOID:835 ICD10CM:H60-H62 ICD10CM:H61.9 ICD9CM:380 ICD9CM:380.9 NCI:C26972 SNOMEDCT_US_2016_03_01:155209003 SNOMEDCT_US_2016_03_01:155216002 SNOMEDCT_US_2016_03_01:194236002 SNOMEDCT_US_2016_03_01:194664001 SNOMEDCT_US_2016_03_01:267751009 SNOMEDCT_US_2016_03_01:49130001 UMLS_CUI:C0155388 Preauricular cyst Preauricular cyst (disorder) Preauricular sinus and fistula (disorder) Preauricular sinus or fistula Preauricular sinus or fistula NOS (disorder) disease_ontology DOID:379 external ear disease Preauricular cyst (disorder) SNOMEDCT_2005_07_31:18820007 Preauricular sinus and fistula (disorder) SNOMEDCT_2005_07_31:204270004 Preauricular sinus or fistula NOS (disorder) SNOMEDCT_2005_07_31:204273002 A soft tissue infectious disease that involves accumulation of pus in the pleural cavity as a result of infection within the lung (pneumonia) or a lung abscess spreading into the space. The symptoms include cough, fever, chest pain, sweating and shortness of breath. DOID:11023 DOID:13630 DOID:14304 ICD10CM:J86 ICD10CM:J86.9 MESH:D016724 NCI:C45692 SNOMEDCT_US_2016_03_01:155604003 SNOMEDCT_US_2016_03_01:196058009 SNOMEDCT_US_2016_03_01:196068004 SNOMEDCT_US_2016_03_01:196069007 SNOMEDCT_US_2016_03_01:196070008 SNOMEDCT_US_2016_03_01:196071007 SNOMEDCT_US_2016_03_01:196072000 SNOMEDCT_US_2016_03_01:196074004 SNOMEDCT_US_2016_03_01:271502000 SNOMEDCT_US_2016_03_01:271506002 SNOMEDCT_US_2016_03_01:405950009 SNOMEDCT_US_2016_03_01:405951008 SNOMEDCT_US_2016_03_01:58554001 SNOMEDCT_US_2016_03_01:69947005 SNOMEDCT_US_2016_03_01:75952005 UMLS_CUI:C0014013 Empyema (& pleural) Empyema of pleura Empyema of pleura without fistula Empyema with fistula (& pleural) Empyema with no fistula Empyema with pleural fistula Empyema without mention of fistula Empyema, chest Pleural empyema with fistula Purulent pleurisy Thorax abscess abscess of pleural cavity abscess of thorax empyema empyema with fistula lung empyema pleural empyema with no fistula purulent pleuritis pyothorax disease_ontology DOID:3798 Updating outdated UMLS CUI. pleural empyema A soft tissue infectious disease that involves accumulation of pus in the pleural cavity as a result of infection within the lung (pneumonia) or a lung abscess spreading into the space. The symptoms include cough, fever, chest pain, sweating and shortness of breath. url:http://en.wikipedia.org/wiki/Pleural_empyema url:http://www.merck.com/mmhe/sec04/ch052/ch052b.html?qt=Pleural%20empyema%20&alt=sh Empyema (& pleural) SNOMEDCT_2005_07_31:196058009 Empyema of pleura SNOMEDCT_2005_07_31:58554001 Empyema of pleura without fistula SNOMEDCT_2005_07_31:15995006 Empyema with fistula (& pleural) SNOMEDCT_2005_07_31:196059001 Empyema with no fistula SNOMEDCT_2005_07_31:196066000 Empyema with pleural fistula SNOMEDCT_2005_07_31:43570006 Empyema without mention of fistula ICD9CM_2006:510.9 Empyema, chest MTHICD9_2006:510.9 Pleural empyema with fistula SNOMEDCT_2005_07_31:271503005 Purulent pleurisy SNOMEDCT_2005_07_31:75952005 Thorax abscess SNOMEDCT_2005_07_31:196068004 abscess of pleural cavity SNOMEDCT_2005_07_31:405951008 abscess of thorax SNOMEDCT_2005_07_31:405950009 lung empyema SNOMEDCT_2005_07_31:196070008 A viral infectious disease that results_in ulceration located_in intestinal epithelium of cats, which has_material_basis_in Feline panleukopenia virus, transmitted_by contact with an infected cat's bodily fluids, feces, or fleas. The infection has_symptom bloody diarrhea, has_symptom dehydration, has_symptom anemia, and has_symptom vomiting. Feline panleukemia disease_ontology DOID:3799 feline panleukopenia true A viral infectious disease that results_in ulceration located_in intestinal epithelium of cats, which has_material_basis_in Feline panleukopenia virus, transmitted_by contact with an infected cat's bodily fluids, feces, or fleas. The infection has_symptom bloody diarrhea, has_symptom dehydration, has_symptom anemia, and has_symptom vomiting. url:http://en.wikipedia.org/wiki/Feline_panleukopenia Feline panleukemia SNOMEDCT_2005_07_31:29386004 A viral infectious disease that results_in infection in birds, has_material_basis_in Avian leukosis virus, which causes wide range of tumors. disease_ontology Tumor Virus Infections DOID:3800 avian leukosis true A viral infectious disease that results_in infection in birds, has_material_basis_in Avian leukosis virus, which causes wide range of tumors. url:http://www.merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/203603.htm A bilirubin metabolic disorder that involves a build up of bilirubin as bilirubin is not being broken down as a result of a lack or deficiency of the enzyme uridine diphosphate glycosyltransferase (UGT). ICD10CM:E80.5 MESH:D003414 NCI:C84656 OMIM:218800 SNOMEDCT_US_2016_03_01:190933008 SNOMEDCT_US_2016_03_01:28259009 SNOMEDCT_US_2016_03_01:8933000 UMLS_CUI:C0010324 Bilirubin UDP glucuronyl transferase deficiency Crigler Najjar syndrome Crigler-Najjar syndrome, type I (disorder) disease_ontology DOID:3803 OMIM mapping confirmed by DO. [SN]. Crigler-Najjar syndrome A bilirubin metabolic disorder that involves a build up of bilirubin as bilirubin is not being broken down as a result of a lack or deficiency of the enzyme uridine diphosphate glycosyltransferase (UGT). url:http://emedicine.medscape.com/article/172858-overview#a0104 url:http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002114/ Bilirubin UDP glucuronyl transferase deficiency SNOMEDCT_2005_07_31:190933008 Crigler Najjar syndrome CSP2005:1654-1020 Crigler-Najjar syndrome, type I (disorder) SNOMEDCT_2005_07_31:8933000 DOID:8668 ICD10CM:L56.5 ICD9CM:692.75 MESH:D017499 NCI:C85019 OMIM:175800 SNOMEDCT_US_2016_03_01:201086003 SNOMEDCT_US_2016_03_01:238630009 SNOMEDCT_US_2016_03_01:400080004 SNOMEDCT_US_2016_03_01:41495000 SNOMEDCT_US_2016_03_01:80432009 UMLS_CUI:C0162839 UMLS_CUI:C0265970 disseminated superficial actinic porokeratosis disease_ontology DOID:3805 Xref MGI. porokeratosis NCI:C5310 UMLS_CUI:C1333417 disease_ontology DOID:3809 epidural spinal canal meningioma A bone inflammation disease that is located_in joint. DOID:13871 DOID:13960 DOID:1843 DOID:1903 DOID:226 DOID:2317 DOID:2318 DOID:546 DOID:9489 ICD10CM:M00-M02 ICD10CM:M12.9 ICD10CM:M19.90 ICD10CM:M25.9 ICD9CM:711 ICD9CM:716.9 ICD9CM:716.90 ICD9CM:719.9 ICD9CM:719.90 MESH:D007592 NCI:C35760 NCI:C78402 SNOMEDCT_US_2016_03_01:156508002 SNOMEDCT_US_2016_03_01:156514009 SNOMEDCT_US_2016_03_01:156616003 SNOMEDCT_US_2016_03_01:196415003 SNOMEDCT_US_2016_03_01:201455003 SNOMEDCT_US_2016_03_01:202059001 SNOMEDCT_US_2016_03_01:202061005 SNOMEDCT_US_2016_03_01:202073005 SNOMEDCT_US_2016_03_01:202634006 SNOMEDCT_US_2016_03_01:202635007 SNOMEDCT_US_2016_03_01:202645009 SNOMEDCT_US_2016_03_01:202647001 SNOMEDCT_US_2016_03_01:203721006 SNOMEDCT_US_2016_03_01:203747002 SNOMEDCT_US_2016_03_01:227588009 SNOMEDCT_US_2016_03_01:267888004 SNOMEDCT_US_2016_03_01:267904003 SNOMEDCT_US_2016_03_01:268051001 SNOMEDCT_US_2016_03_01:268056006 SNOMEDCT_US_2016_03_01:268070006 SNOMEDCT_US_2016_03_01:363162000 SNOMEDCT_US_2016_03_01:371412008 SNOMEDCT_US_2016_03_01:396233005 SNOMEDCT_US_2016_03_01:396275006 SNOMEDCT_US_2016_03_01:399269003 SNOMEDCT_US_2016_03_01:48548006 SNOMEDCT_US_2016_03_01:80843008 SNOMEDCT_US_2016_03_01:8316001 SNOMEDCT_US_2016_03_01:83486002 UMLS_CUI:C0022408 UMLS_CUI:C0157749 Ankylosis of joint of ankle and/or foot (disorder) Ankylosis of joint of forearm (disorder) Ankylosis of joint of hand (disorder) Ankylosis of joint of lower leg (disorder) Ankylosis of joint of multiple sites (disorder) Ankylosis of joint of shoulder region (disorder) Ankylosis of joint of upper arm (disorder) Ankylosis of multiple joints Infectious arthropathy Joint ankylosis of the ankle and foot Joint ankylosis of the ankle and/or foot (disorder) Joint ankylosis of the forearm Joint ankylosis of the forearm (disorder) Joint ankylosis of the hand Joint ankylosis of the lower leg Joint ankylosis of the lower leg (disorder) Joint ankylosis of the pelvic region and thigh Joint ankylosis of the pelvic region and thigh (disorder) Joint ankylosis of the shoulder region Joint ankylosis of the shoulder region (disorder) Joint ankylosis of the upper arm Joint ankylosis of the upper arm (disorder) ankylosis of ankle and foot joint ankylosis of forearm joint ankylosis of hand joint ankylosis of joint of multiple sites ankylosis of joint of pelvic region and thigh ankylosis of joint of shoulder region ankylosis of lower leg joint ankylosis of upper arm joint disease_ontology DOID:381 arthropathy A bone inflammation disease that is located_in joint. ls:IEDB url:http://en.wikipedia.org/wiki/Arthropathy Ankylosis of joint of ankle and/or foot (disorder) SNOMEDCT_2005_07_31:57137004 Ankylosis of joint of forearm (disorder) SNOMEDCT_2005_07_31:39147002 Ankylosis of joint of hand (disorder) SNOMEDCT_2005_07_31:56923001 Ankylosis of joint of lower leg (disorder) SNOMEDCT_2005_07_31:43534008 Ankylosis of joint of multiple sites (disorder) SNOMEDCT_2005_07_31:90242006 Ankylosis of joint of shoulder region (disorder) SNOMEDCT_2005_07_31:2890007 Ankylosis of joint of upper arm (disorder) SNOMEDCT_2005_07_31:9064009 Ankylosis of multiple joints SNOMEDCT_2005_07_31:156560006 Joint ankylosis of the ankle and foot SNOMEDCT_2005_07_31:156567009 SNOMEDCT_2005_07_31:202304009 Joint ankylosis of the ankle and/or foot (disorder) SNOMEDCT_2005_07_31:267936005 Joint ankylosis of the forearm SNOMEDCT_2005_07_31:202300000 Joint ankylosis of the forearm (disorder) SNOMEDCT_2005_07_31:267933002 Joint ankylosis of the hand SNOMEDCT_2005_07_31:156564002 Joint ankylosis of the lower leg SNOMEDCT_2005_07_31:202303003 Joint ankylosis of the lower leg (disorder) SNOMEDCT_2005_07_31:267935009 Joint ankylosis of the pelvic region and thigh SNOMEDCT_2005_07_31:202301001 Joint ankylosis of the pelvic region and thigh (disorder) SNOMEDCT_2005_07_31:267934008 Joint ankylosis of the shoulder region SNOMEDCT_2005_07_31:156561005 Joint ankylosis of the shoulder region (disorder) SNOMEDCT_2005_07_31:202298000 Joint ankylosis of the upper arm SNOMEDCT_2005_07_31:202299008 Joint ankylosis of the upper arm (disorder) SNOMEDCT_2005_07_31:267932007 Chondromatous neoplasm (morphologic abnormality) Chondromatous neoplasm NOS (morphologic abnormality) Chondromatous tumor cartilage neoplasm disease_ontology DOID:3810 chondrogenic neoplasm true Chondromatous neoplasm (morphologic abnormality) SNOMEDCT_2005_07_31:189884000 Chondromatous neoplasm NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189889005 Chondromatous tumor NCI2004_11_17:C4755 cartilage neoplasm CSP2005:2019-1220 Chondroma of mediastinum disease_ontology DOID:3812 mediastinum chondroma true Chondroma of mediastinum NCI2004_11_17:C6596 NCI:C7001 UMLS_CUI:C1333019 Chondroma of the CNS disease_ontology DOID:3813 central nervous system chondroma Chondroma of the CNS NCI2004_11_17:C7001 disease_ontology DOID:3814 extraskeletal chondroma NCI:C27335 UMLS_CUI:C0919940 disease_ontology DOID:3816 glossopharyngeal nerve paralysis MESH:D003389 NCI:C26941 SNOMEDCT_US_2016_03_01:73013002 UMLS_CUI:C0151311 Cranial nerve Paralysis Cranial nerve palsy disease_ontology DOID:3817 cranial nerve palsy Cranial nerve Paralysis NCI2004_11_17:C26941 Cranial nerve palsy SNOMEDCT_2005_07_31:73013002 MESH:D017454 SNOMEDCT_US_2016_03_01:111209006 SNOMEDCT_US_2016_03_01:238523008 SNOMEDCT_US_2016_03_01:238524002 SNOMEDCT_US_2016_03_01:367334003 UMLS_CUI:C0162824 Photoallergic contact dermatitis Photoallergic dermatitis (disorder) Photoallergic eczema disease_ontology DOID:3818 photoallergic dermatitis Photoallergic contact dermatitis SNOMEDCT_2005_07_31:238524002 Photoallergic dermatitis (disorder) SNOMEDCT_2005_07_31:111209006 Photoallergic eczema SNOMEDCT_2005_07_31:238523008 Photoallergic eczema SNOMEDCT_2005_07_31:367334003 MESH:D011040 SNOMEDCT_US_2016_03_01:410049000 UMLS_CUI:C0032342 Contact dermatitis due to Genus Toxicodendron Rhus dermatitis disease_ontology DOID:3819 toxicodendron dermatitis Contact dermatitis due to Genus Toxicodendron SNOMEDCT_2005_07_31:410049000 Rhus dermatitis CSP2005:2716-6989 chlamydiaceae infection disease_ontology DOID:3820 primary Chlamydiaceae infectious disease true chlamydiaceae infection CSP2005:0638-2797 MESH:D020762 UMLS_CUI:C0752132 disease_ontology DOID:3821 posterior cerebral artery infarction MESH:D012790 SNOMEDCT_US_2016_03_01:24453002 UMLS_CUI:C0037018 Shwartzman reaction (function) disease_ontology DOID:3825 Shwartzman phenomenon Shwartzman reaction (function) SNOMEDCT_2005_07_31:24453002 A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs. ICD10CM:K44 ICD10CM:K44.9 MESH:D006548 NCI:C34687 OMIM:142340 OMIM:222400 OMIM:610187 ORDO:2140 SNOMEDCT_US_2016_03_01:155748004 SNOMEDCT_US_2016_03_01:155750007 SNOMEDCT_US_2016_03_01:196901006 SNOMEDCT_US_2016_03_01:196911004 SNOMEDCT_US_2016_03_01:196912006 SNOMEDCT_US_2016_03_01:266444006 SNOMEDCT_US_2016_03_01:266511003 SNOMEDCT_US_2016_03_01:39839004 UMLS_CUI:C0019284 Diaphragmatic Hernia disease_ontology DOID:3827 Xref MGI. OMIM mapping confirmed by DO. [SN]. congenital diaphragmatic hernia A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs. url:http://en.wikipedia.org/wiki/Congenital_diaphragmatic_hernia url:http://ghr.nlm.nih.gov/condition/congenital-diaphragmatic-hernia Diaphragmatic Hernia NCI2004_11_17:C34687 MESH:D000238 NCI:C2857 SNOMEDCT_US_2016_03_01:37039006 UMLS_CUI:C0001432 Chromophobe adenoma of the Pituitary gland disease_ontology DOID:3828 chromophobe adenoma Chromophobe adenoma of the Pituitary gland NCI2004_11_17:C2857 MESH:D010911 NCI:C3329 SNOMEDCT_US_2016_03_01:128664001 SNOMEDCT_US_2016_03_01:154621002 SNOMEDCT_US_2016_03_01:189178001 SNOMEDCT_US_2016_03_01:254956000 SNOMEDCT_US_2016_03_01:269643009 SNOMEDCT_US_2016_03_01:367095008 UMLS_CUI:C0032000 adenoma of the Pituitary gland disease_ontology DOID:3829 pituitary adenoma adenoma of the Pituitary gland NCI2004_11_17:C3329 disease_ontology DOID:3836 posttransplantation lymphoproliferative disease true disease_ontology DOID:3837 benign lymphoproliferative disease true Lymphoproliferative disorder of skin disease_ontology DOID:3838 skin lymphoproliferative disease true Lymphoproliferative disorder of skin NCI2004_11_17:C7614 DOID:10392 ICD10CM:I45.6 ICD9CM:426.7 MESH:D014927 NCI:C35132 OMIM:194200 SNOMEDCT_US_2016_03_01:155360000 SNOMEDCT_US_2016_03_01:17869006 SNOMEDCT_US_2016_03_01:195057009 SNOMEDCT_US_2016_03_01:195061003 SNOMEDCT_US_2016_03_01:251115003 SNOMEDCT_US_2016_03_01:266304003 SNOMEDCT_US_2016_03_01:74390002 UMLS_CUI:C0043202 UMLS_CUI:C0392470 Anomalous A-V excitation Wolff-Parkinson-White pattern (finding) anomalous atrioventricular excitation disease_ontology DOID:384 OMIM mapping confirmed by DO. [LS]. OMIM mapping confirmed by DO. [SN]. Wolff-Parkinson-White syndrome Anomalous A-V excitation SNOMEDCT_2005_07_31:266304003 Wolff-Parkinson-White pattern (finding) SNOMEDCT_2005_07_31:251115003 MESH:D003397 NCI:C2964 SNOMEDCT_US_2016_03_01:189179009 SNOMEDCT_US_2016_03_01:40009002 UMLS_CUI:C0010276 craniopharyngioma (disorder) craniopharyngioma (morphologic abnormality) neoplasm of Rathke's Pouch disease_ontology DOID:3840 craniopharyngioma craniopharyngioma (disorder) SNOMEDCT_2005_07_31:189179009 craniopharyngioma (morphologic abnormality) SNOMEDCT_2005_07_31:40009002 neoplasm of Rathke's Pouch NCI2004_11_17:C2964 MESH:D019292 NCI:C4676 UMLS_CUI:C0376527 tumors of Skull Base disease_ontology DOID:3842 skull base neoplasm tumors of Skull Base NCI2004_11_17:C4676 DOID:6097 NCI:C5125 NCI:C5126 UMLS_CUI:C1333286 UMLS_CUI:C1334576 malignant Diencephalic tumor malignant diencephalic neoplasm tumor of Diencephalon disease_ontology DOID:3843 diencephalic neoplasm malignant Diencephalic tumor NCI2004_11_17:C5126 tumor of Diencephalon NCI2004_11_17:C5125 pediatric Rathke's Pouch tumor disease_ontology DOID:3844 pediatric craniopharyngioma true pediatric Rathke's Pouch tumor NCI2004_11_17:C7816 disease_ontology DOID:3845 childhood intracranial neoplasm true MESH:D003397 NCI:C4726 SNOMEDCT_US_2016_03_01:128781004 SNOMEDCT_US_2016_03_01:134216001 UMLS_CUI:C0431129 Adamantinous Rathke's Pouch tumor Adamantinous craniopharyngioma (morphologic abnormality) craniopharyngioma, adamantinomatous disease_ontology DOID:3846 adamantinous craniopharyngioma Adamantinous Rathke's Pouch tumor NCI2004_11_17:C4726 Adamantinous craniopharyngioma (morphologic abnormality) SNOMEDCT_2005_07_31:134216001 craniopharyngioma, adamantinomatous SNOMEDCT_2005_07_31:128781004 MESH:D003397 NCI:C4725 SNOMEDCT_US_2016_03_01:128782006 SNOMEDCT_US_2016_03_01:134215002 UMLS_CUI:C0431128 Papillary Rathke's Pouch tumor Papillary craniopharyngioma (morphologic abnormality) craniopharyngioma, papillary (morphologic abnormality) disease_ontology DOID:3847 papillary craniopharyngioma Papillary Rathke's Pouch tumor NCI2004_11_17:C4725 Papillary craniopharyngioma (morphologic abnormality) SNOMEDCT_2005_07_31:134215002 craniopharyngioma, papillary (morphologic abnormality) SNOMEDCT_2005_07_31:128782006 adult Rathke's Pouch tumor disease_ontology DOID:3848 adult craniopharyngioma true adult Rathke's Pouch tumor NCI2004_11_17:C4010 adult intracranial tumor disease_ontology DOID:3849 adult intracranial neoplasm true adult intracranial tumor NCI2004_11_17:C5478 NCI:C7076 SNOMEDCT_US_2016_03_01:189866002 SNOMEDCT_US_2016_03_01:189867006 UMLS_CUI:C0476144 Hemangiopericytic neoplasm Hemangiopericytic neoplasm NOS (morphologic abnormality) disease_ontology DOID:3850 hemangiopericytic tumor Hemangiopericytic neoplasm SNOMEDCT_2005_07_31:189866002 Hemangiopericytic neoplasm NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189867006 DOID:4133 DOID:4134 DOID:6252 DOID:6253 ICD10CM:Q85.8 MESH:D010580 NCI:C3324 NCI:C4733 NCI:C7755 OMIM:175200 SNOMEDCT_US_2016_03_01:157029009 SNOMEDCT_US_2016_03_01:277161008 SNOMEDCT_US_2016_03_01:53633000 SNOMEDCT_US_2016_03_01:54411001 UMLS_CUI:C0031269 UMLS_CUI:C0265323 UMLS_CUI:C0456487 UMLS_CUI:C1333088 Colonic hamartomatous polyp Peutz Jeghers colon polyp Peutz Jeghers polyp Peutz-Jeghers polyp of small Intestine gastric Peutz-Jeghers polyp peutz-jeghers small bowel hamartoma disease_ontology DOID:3852 OMIM mapping confirmed by DO. [SN]. Peutz-Jeghers syndrome Colonic hamartomatous polyp NCI2004_11_17:C5519 Peutz-Jeghers polyp of small Intestine NCI2004_11_17:C7755 NCI:C39908 SNOMEDCT_US_2016_03_01:236740006 UMLS_CUI:C0341767 Seminal Vesicle neoplasm tumor of seminal vesicle (disorder) disease_ontology DOID:3855 seminal vesicle tumor Seminal Vesicle neoplasm NCI2004_11_17:C39908 tumor of seminal vesicle (disorder) SNOMEDCT_2005_07_31:236740006 A reproductive organ cancer that is manifested in the male genital system. This includes organs such as the penis and scrotum. DOID:10284 ICD10CM:C60-C63 ICD10CM:C63.9 ICD9CM:187.9 MESH:D005834 NCI:C3054 NCI:C8561 SNOMEDCT_US_2016_03_01:126895004 SNOMEDCT_US_2016_03_01:190127000 SNOMEDCT_US_2016_03_01:190130007 SNOMEDCT_US_2016_03_01:363515000 SNOMEDCT_US_2016_03_01:93885006 UMLS_CUI:C0017417 UMLS_CUI:C0153606 male genital cancer male reproductive system neoplasm malignant neoplasm of male genital organ or tract malignant neoplasm of male genital organ, NOS malignant neoplasm of male genital organ, site unspecified malignant neoplasm of male genital organ, unspecified (disorder) malignant neoplasm of male genital organs (disorder) malignant tumor of male Reproductive system malignant tumor of male genital organ malignant tumor of male genital organ (disorder) neoplasm of male genital organ tumor of male Reproductive system disease_ontology male genital neoplasm DOID:3856 male reproductive organ cancer A reproductive organ cancer that is manifested in the male genital system. This includes organs such as the penis and scrotum. url:http://en.wikipedia.org/wiki/Template:Male_genital_neoplasia url:http://www.wrongdiagnosis.com/g/genital_system_cancer/intro.htm male reproductive system neoplasm CSP2005:2016-2462 malignant neoplasm of male genital organ, NOS SNOMEDCT_2005_07_31:93885006 malignant neoplasm of male genital organ, site unspecified ICD9CM_2006:187.9 malignant neoplasm of male genital organ, unspecified (disorder) SNOMEDCT_2005_07_31:190130007 malignant neoplasm of male genital organs (disorder) SNOMEDCT_2005_07_31:190127000 malignant tumor of male Reproductive system NCI2004_11_17:C8561 malignant tumor of male genital organ MTH:U001031 malignant tumor of male genital organ (disorder) SNOMEDCT_2005_07_31:363515000 neoplasm of male genital organ SNOMEDCT_2005_07_31:126895004 tumor of male Reproductive system NCI2004_11_17:C3054 A medulloblastoma that is characterized by cells that are larger than would be normally expected. NCI:C6904 SNOMEDCT_US_2016_03_01:128790006 UMLS_CUI:C1266180 large cell Medulloblastoma large cell medulloblastoma (morphologic abnormality) disease_ontology DOID:3857 large cell medulloblastoma A medulloblastoma that is characterized by cells that are larger than would be normally expected. url:http://en.wikipedia.org/wiki/Large_cell large cell Medulloblastoma NCI2004_11_17:C6904 large cell medulloblastoma (morphologic abnormality) SNOMEDCT_2005_07_31:128790006 disease_ontology DOID:3859 relapsed medulloblastoma true disease_ontology Postcardiotomy syndrome DOID:386 postpericardiotomy syndrome true Postcardiotomy syndrome SNOMEDCT_2005_07_31:157793008 NCI:C5401 UMLS_CUI:C1332903 Vermis Medulloblastoma disease_ontology DOID:3860 cerebellar vermis medulloblastoma Vermis Medulloblastoma NCI2004_11_17:C5401 MESH:D008527 NCI:C3706 SNOMEDCT_US_2016_03_01:24604009 UMLS_CUI:C0205833 Medullomyoblastoma (morphologic abnormality) disease_ontology DOID:3861 medullomyoblastoma Medullomyoblastoma (morphologic abnormality) SNOMEDCT_2005_07_31:24604009 disease_ontology DOID:3862 FAP associated medulloblastoma true disease_ontology DOID:3863 region 17p13 allelic loss associated medulloblastoma true DOID:6380 MESH:D008527 NCI:C4011 NCI:C9373 UMLS_CUI:C0278876 UMLS_CUI:C1332188 adult brain medulloblastoma disease_ontology DOID:3864 adult medulloblastoma NCI:C5411 UMLS_CUI:C1332196 adult CNS PNET disease_ontology DOID:3865 adult central nervous system primitive neuroectodermal neoplasm adult CNS PNET NCI2004_11_17:C5411 DOID:6926 desmoplastic medulloblastoma (morphologic abnormality) desmoplastic nodular medulloblastoma disease_ontology DOID:3866 OMIM mapping confirmed by DO. [SN]. desmoplastic medulloblastoma true desmoplastic medulloblastoma (morphologic abnormality) SNOMEDCT_2005_07_31:32456001 desmoplastic nodular medulloblastoma SNOMEDCT_2005_07_31:32456001 disease_ontology DOID:3867 nevoid basal cell carcinoma syndrome associated medulloblastoma true MESH:D008527 NCI:C9497 SNOMEDCT_US_2016_03_01:397380008 SNOMEDCT_US_2016_03_01:83217000 UMLS_CUI:C1275668 Medulloblastoma, melanotic (morphologic abnormality) Melanotic Medulloblastoma disease_ontology DOID:3868 melanotic medulloblastoma Medulloblastoma, melanotic (morphologic abnormality) SNOMEDCT_2005_07_31:397380008 Melanotic Medulloblastoma NCI2004_11_17:C9497 MESH:D008527 NCI:C3997 UMLS_CUI:C0278510 pediatric Medulloblastoma disease_ontology DOID:3869 childhood medulloblastoma pediatric Medulloblastoma NCI2004_11_17:C3997 NCI:C5961 UMLS_CUI:C1332957 pediatric CNS PNET disease_ontology DOID:3870 childhood central nervous system primitive neuroectodermal neoplasm pediatric CNS PNET NCI2004_11_17:C5961 disease_ontology DOID:3871 medulloblastoma with leptomeningeal spread true Meningeal carcinomatosis malignant meningitis (disorder) metastatic tumor to the Leptomeninges disease_ontology DOID:3872 leptomeningeal metastases true Meningeal carcinomatosis NCI2004_11_17:C27383 malignant meningitis (disorder) SNOMEDCT_2005_07_31:230156002 metastatic tumor to the Leptomeninges NCI2004_11_17:C3814 NCI:C5407 UMLS_CUI:C1334970 disease_ontology DOID:3873 nodular medulloblastoma A phlebitis that results from a blood clot in the vessel. DOID:1146 ICD10CM:I80.0 ICD9CM:451.0 MESH:D013924 NCI:C3410 SNOMEDCT_US_2016_03_01:195401008 SNOMEDCT_US_2016_03_01:195433004 SNOMEDCT_US_2016_03_01:266266001 SNOMEDCT_US_2016_03_01:40283005 SNOMEDCT_US_2016_03_01:64156001 UMLS_CUI:C0040046 UMLS_CUI:C0265057 Phlebitis and thrombophlebitis of superficial vessels of lower extremities Superficial thrombophlebitis of leg Thrombophlebitis of a superficial leg vein NOS (disorder) Thrombophlebitis of superficial veins of lower extremity (disorder) disease_ontology DOID:3875 thrombophlebitis A phlebitis that results from a blood clot in the vessel. url:http://en.wikipedia.org/wiki/Thrombophlebitis url:http://www.hopkinsmedicine.org/heart_vascular_institute/conditions_treatments/conditions/thrombophlebitis.html url:http://www.nlm.nih.gov/medlineplus/ency/article/001108.htm Phlebitis and thrombophlebitis of superficial vessels of lower extremities ICD9CM_2006:451.0 Thrombophlebitis of a superficial leg vein NOS (disorder) SNOMEDCT_2005_07_31:195401008 Thrombophlebitis of superficial veins of lower extremity (disorder) SNOMEDCT_2005_07_31:40283005 MESH:D003112 SNOMEDCT_US_2016_03_01:35065006 UMLS_CUI:C0009377 primary chronic pseudo-obstruction of colon (disorder) disease_ontology DOID:3876 colonic pseudo-obstruction primary chronic pseudo-obstruction of colon (disorder) SNOMEDCT_2005_07_31:35065006 MESH:D003109 UMLS_CUI:C0009374 disease_ontology DOID:3877 functional colonic disease MESH:D007418 NCI:C34733 SNOMEDCT_US_2016_03_01:235825006 UMLS_CUI:C0021847 Pseudo-obstruction of intestine (disorder) intestinal Pseudo-obstruction intestine pseudoobstruction disease_ontology DOID:3878 intestinal pseudo-obstruction Pseudo-obstruction of intestine (disorder) SNOMEDCT_2005_07_31:235825006 intestinal Pseudo-obstruction NCI2004_11_17:C34733 intestine pseudoobstruction CSP2005:1248-5896 Proteus infection Proteus infection (disorder) Proteus infection NOS (disorder) disease_ontology DOID:3881 Proteus infectious disease true Proteus infection CSP2005:0368-2705 Proteus infection (disorder) SNOMEDCT_2005_07_31:186437007 Proteus infection NOS (disorder) SNOMEDCT_2005_07_31:186438002 An autosomal dominant disease that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers. DOID:0050586 DOID:3040 MESH:D003123 NCI:C120083 NCI:C8494 OMIM:120435 OMIM:609310 OMIM:613244 OMIM:614331 OMIM:614337 OMIM:614350 OMIM:614385 ORDO:144 SNOMEDCT_US_2016_03_01:315058005 UMLS_CUI:C0009405 UMLS_CUI:C1333990 COCA 1 HNPCC - hereditary nonpolyposis colon cancer Hereditary Defective Mismatch Repair syndrome hereditary non-polyposis colon cancer type 1 hereditary nonpolyposis colorectal cancer hereditary nonpolyposis colorectal neoplasm disease_ontology DOID:3883 OMIM mapping confirmed by DO. [SN]. Lynch syndrome An autosomal dominant disease that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers. url:http://en.wikipedia.org/wiki/Hereditary_nonpolyposis_colorectal_cancer url:http://ghr.nlm.nih.gov/condition/lynch-syndrome COCA 1 NCI2004_11_17:C6725 HNPCC - hereditary nonpolyposis colon cancer SNOMEDCT_2005_07_31:315058005 Hereditary Defective Mismatch Repair syndrome NCI2004_11_17:C8494 MESH:D017118 NCI:C84536 OMIM:176000 SNOMEDCT_US_2016_03_01:190914003 SNOMEDCT_US_2016_03_01:234422006 SNOMEDCT_US_2016_03_01:90842001 UMLS_CUI:C0162565 AIP - acute intermittent porphyria Pyrroloporphyria porphyria intermittent acute disease_ontology DOID:3890 acute intermittent porphyria AIP - acute intermittent porphyria SNOMEDCT_2005_07_31:190914003 Pyrroloporphyria MTHICD9_2006:277.1 porphyria intermittent acute CSP2005:1849-7674 A placenta disease that is characterized by insufficient blood flow to the placenta during pregnancy. MESH:D010927 SNOMEDCT_US_2016_03_01:156185006 SNOMEDCT_US_2016_03_01:199610002 SNOMEDCT_US_2016_03_01:237292005 SNOMEDCT_US_2016_03_01:267337006 UMLS_CUI:C0032051 disease_ontology DOID:3891 placental insufficiency A placenta disease that is characterized by insufficient blood flow to the placenta during pregnancy. url:http://en.wikipedia.org/wiki/Placental_insufficiency An adenoma that is located_in the pancreas and is characterized by overproduction of insulin. DOID:3903 MESH:D007340 MESH:D007516 NCI:C3140 NCI:C65184 NCI:C95598 SNOMEDCT_US_2016_03_01:134154009 SNOMEDCT_US_2016_03_01:189586007 SNOMEDCT_US_2016_03_01:25324008 SNOMEDCT_US_2016_03_01:302822000 SNOMEDCT_US_2016_03_01:76345009 UMLS_CUI:C0021670 UMLS_CUI:C0022134 Insulin-Producing tumor of Islet cells Islet cell adenoma disease_ontology DOID:3892 insulinoma An adenoma that is located_in the pancreas and is characterized by overproduction of insulin. url:http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001424/ Insulin-Producing tumor of Islet cells NCI2004_11_17:C3140 Islet cell adenoma SNOMEDCT_2005_07_31:76345009 MESH:D018251 NCI:C3760 SNOMEDCT_US_2016_03_01:80549000 UMLS_CUI:C0206672 Apocrine Cystadenoma Apocrine cystadenoma Apocrine cystadenoma (disorder) Eccrine Cystadenoma Eccrine hidrocystoma of skin (disorder) Hidrocystoma (morphologic abnormality) disease_ontology DOID:3893 hidrocystoma Apocrine Cystadenoma NCI2004_11_17:C3760 Apocrine cystadenoma SNOMEDCT_2005_07_31:36318001 Apocrine cystadenoma (disorder) SNOMEDCT_2005_07_31:254725004 Eccrine Cystadenoma NCI2004_11_17:C7565 Eccrine hidrocystoma of skin (disorder) SNOMEDCT_2005_07_31:254716005 Hidrocystoma (morphologic abnormality) SNOMEDCT_2005_07_31:80549000 NCI:C27527 NCI:C4168 SNOMEDCT_US_2016_03_01:307596009 SNOMEDCT_US_2016_03_01:36318001 UMLS_CUI:C0334345 tubular Apocrine adenoma disease_ontology DOID:3895 apocrine adenoma tubular Apocrine adenoma NCI2004_11_17:C27527 MESH:D006607 NCI:C7560 NCI:C7563 SNOMEDCT_US_2016_03_01:189051001 SNOMEDCT_US_2016_03_01:189664001 SNOMEDCT_US_2016_03_01:253020008 SNOMEDCT_US_2016_03_01:254719003 SNOMEDCT_US_2016_03_01:255182002 SNOMEDCT_US_2016_03_01:307574003 SNOMEDCT_US_2016_03_01:400099008 SNOMEDCT_US_2016_03_01:81393009 UMLS_CUI:C0019522 Hidradenoma of skin Sweat gland adenoma Syringoadenoma disease_ontology DOID:3896 hidradenoma Hidradenoma of skin SNOMEDCT_2005_07_31:253020008 Sweat gland adenoma NCI2004_11_17:C7560 Syringoadenoma SNOMEDCT_2005_07_31:189051001 Adnexal adenoma skin appendage adenoma (morphologic abnormality) disease_ontology adenoma of skin appendage DOID:3898 skin appendage adenoma true Adnexal adenoma NCI2004_11_17:C7580 skin appendage adenoma (morphologic abnormality) SNOMEDCT_2005_07_31:189660005 skin appendage adenoma (morphologic abnormality) SNOMEDCT_2005_07_31:55681005 Adnexal and skin appendage neoplasm (morphologic abnormality) Adnexal and skin appendage neoplasm NOS (morphologic abnormality) Adnexal and skin appendage tumor (qualifier value) disease_ontology DOID:3899 skin appendage neoplasm true Adnexal and skin appendage neoplasm (morphologic abnormality) SNOMEDCT_2005_07_31:189658008 Adnexal and skin appendage neoplasm NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189675002 Adnexal and skin appendage tumor (qualifier value) SNOMEDCT_2005_07_31:134319006 DOID:11956 DOID:11957 DOID:13384 DOID:13385 Antenatal deep vein thrombosis Antenatal deep vein thrombosis NOS (disorder) Antenatal deep vein thrombosis unspecified (disorder) Antepartum deep phlebothrombosis (disorder) Deep phlebothrombosis, antepartum Deep phlebothrombosis, antepartum, unspecified as to episode of care Deep phlebothrombosis, antepartum, with delivery Deep phlebothrombosis, postpartum, with delivery antepartum deep-vein thrombosis postpartum deep-vein thrombosis disease_ontology DOID:390 obstetric venous problem true Antenatal deep vein thrombosis SNOMEDCT_2005_07_31:156268003 Antenatal deep vein thrombosis NOS (disorder) SNOMEDCT_2005_07_31:200234007 Antenatal deep vein thrombosis unspecified (disorder) SNOMEDCT_2005_07_31:200231004 Antepartum deep phlebothrombosis (disorder) SNOMEDCT_2005_07_31:49956009 Deep phlebothrombosis, antepartum ICD9CM_2006:671.3 ICD9CM_2006:671.33 Deep phlebothrombosis, antepartum, unspecified as to episode of care ICD9CM_2006:671.30 ICD10CM:N76.2 MESH:D014847 SNOMEDCT_US_2016_03_01:155981006 SNOMEDCT_US_2016_03_01:198214007 SNOMEDCT_US_2016_03_01:266586003 SNOMEDCT_US_2016_03_01:266655004 SNOMEDCT_US_2016_03_01:63144007 UMLS_CUI:C0042996 disease_ontology DOID:3901 vulvitis A Varicellovirus infectious disease that results_in infection located_in peripheral nervous system in swine, cattle, sheep, dogs and raccoons, has_material_basis_in Suid herpesvirus 1 and has_symptom abortion, has_symptom coughing, has_symptom sneezing, has_symptom fever, has_symptom constipation, has_symptom depression, has_symptom seizures, has_symptom ataxia, has_symptom circling, has_symptom excess salivation in piglets, and has_symptom intense itching in cattle. Aujeszky's disease mad itch disease_ontology DOID:3902 pseudorabies true A Varicellovirus infectious disease that results_in infection located_in peripheral nervous system in swine, cattle, sheep, dogs and raccoons, has_material_basis_in Suid herpesvirus 1 and has_symptom abortion, has_symptom coughing, has_symptom sneezing, has_symptom fever, has_symptom constipation, has_symptom depression, has_symptom seizures, has_symptom ataxia, has_symptom circling, has_symptom excess salivation in piglets, and has_symptom intense itching in cattle. url:http://en.wikipedia.org/wiki/Pseudorabies url:http://www.plospathogens.org/article/info:doi%2F10.1371%2Fjournal.ppat.1000640 A bronchus cancer that has_material_basis_in epithelial cells. CSP:2017-6052 MESH:D002283 NCI:C35875 SNOMEDCT_US_2016_03_01:154485001 SNOMEDCT_US_2016_03_01:254622008 SNOMEDCT_US_2016_03_01:269561006 SNOMEDCT_US_2016_03_01:363493006 UMLS_CUI:C0007121 BC - Bronchogenic carcinoma disease_ontology DOID:3904 bronchus carcinoma A bronchus cancer that has_material_basis_in epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma BC - Bronchogenic carcinoma SNOMEDCT_2005_07_31:254622008 A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis. EFO:0001071 ICD10CM:C34.90 NCI:C4878 SNOMEDCT_US_2016_03_01:154485001 SNOMEDCT_US_2016_03_01:187875007 SNOMEDCT_US_2016_03_01:269561006 UMLS_CUI:C0684249 cancer of lung disease_ontology carcinoma of lung DOID:3905 OMIM mapping confirmed by DO. [SN]. lung carcinoma A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis. url:https://merck.com/mmpe/sec05/ch062/ch062b.html cancer of lung NCI2004_11_17:C4878 MESH:D001984 SNOMEDCT_US_2016_03_01:126705004 UMLS_CUI:C0006264 bronchus neoplasm neoplasm of bronchus (disorder) disease_ontology DOID:3906 bronchial neoplasm bronchus neoplasm CSP2005:2017-5516 neoplasm of bronchus (disorder) SNOMEDCT_2005_07_31:126705004 A non-small cell lung carcinoma that has_material_basis_in the squamous cell. NCI:C3493 SNOMEDCT_US_2016_03_01:254634000 UMLS_CUI:C0149782 Epidermoid cell carcinoma of the lung disease_ontology squamous cell carcinoma of lung DOID:3907 lung squamous cell carcinoma A non-small cell lung carcinoma that has_material_basis_in the squamous cell. url:http://cancergenome.nih.gov/cancersselected/lungsquamouscell url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma url:http://en.wikipedia.org/wiki/Squamous_cell_carcinoma_of_the_lung url:http://www.cancer.gov/dictionary?CdrID=46595 Epidermoid cell carcinoma of the lung NCI2004_11_17:C3493 A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma. EFO:0003060 ICD10CM:C34 KEGG:05223 MESH:D002289 NCI:C2926 SNOMEDCT_US_2016_03_01:254637007 UMLS_CUI:C0007131 NSCLC Non-small cell lung cancer disease_ontology DOID:3908 non-small cell lung carcinoma A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma. url:http://en.wikipedia.org/wiki/Non-small-cell_lung_carcinoma NSCLC CSP2005:4005-0042 NSCLC NCI2004_11_17:C2926 Non-small cell lung cancer SNOMEDCT_2005_07_31:254637007 Bronchiogenic adenocarcinoma disease_ontology DOID:3909 bronchogenic lung adenocarcinoma Bronchiogenic adenocarcinoma NCI2004_11_17:C7948 A non-small cell lung carcinoma that derives_from epithelial cells of glandular origin. DOID:4826 EFO:0000571 MESH:C538231 NCI:C27745 NCI:C3512 SNOMEDCT_US_2016_03_01:254626006 UMLS_CUI:C0152013 UMLS_CUI:C1335060 nonsmall cell adenocarcinoma disease_ontology adenocarcinoma of lung DOID:3910 lung adenocarcinoma A non-small cell lung carcinoma that derives_from epithelial cells of glandular origin. url:http://cancergenome.nih.gov/cancersselected/lungadenocarcinoma url:http://en.wikipedia.org/wiki/Adenocarcinoma url:http://en.wikipedia.org/wiki/Adenocarcinoma_of_the_lung ICD10CM:E34.8 MESH:D011371 NCI:C34951 OMIM:176670 SNOMEDCT_US_2016_03_01:190590004 SNOMEDCT_US_2016_03_01:238869000 SNOMEDCT_US_2016_03_01:238870004 SNOMEDCT_US_2016_03_01:46238000 UMLS_CUI:C0033300 HGPS Hutchinson Gilford syndrome Hutchinson-Gilford Progeria syndrome Hutchinson-Gilford disease disease_ontology DOID:3911 OMIM mapping confirmed by DO. [SN]. progeria Hutchinson Gilford syndrome CSP2005:0071-4237 Hutchinson-Gilford disease NCI2004_11_17:C34951 Ovarian serous Cystadenoma disease_ontology DOID:3914 serous cystadenoma of ovary true Ovarian serous Cystadenoma NCI2004_11_17:C4511 Atypical proliferating serous tumour Low Malignancy Potential serous Cystadenoma disease_ontology DOID:3916 borderline malignancy serous cystadenoma true Atypical proliferating serous tumour SNOMEDCT_2005_07_31:128849004 Low Malignancy Potential serous Cystadenoma NCI2004_11_17:C4177 NCI:C5712 UMLS_CUI:C1335316 disease_ontology DOID:3917 pancreatic serous cystadenoma NCI:C4374 SNOMEDCT_US_2016_03_01:235967003 UMLS_CUI:C0341486 disease_ontology DOID:3918 pancreatic cystadenoma NCI:C41248 UMLS_CUI:C1518875 disease_ontology DOID:3919 pancreatic serous cystic neoplasm NCI:C6504 UMLS_CUI:C1333298 disease_ontology DOID:3923 diffuse lipomatosis ICD10CM:C34.0 ICD9CM:162.2 SNOMEDCT_US_2016_03_01:154487009 SNOMEDCT_US_2016_03_01:187856002 SNOMEDCT_US_2016_03_01:187859009 SNOMEDCT_US_2016_03_01:269563009 SNOMEDCT_US_2016_03_01:372065009 UMLS_CUI:C0153490 Ca main bronchus malignant neoplasm of main bronchus disease_ontology DOID:3924 main bronchus cancer Ca main bronchus SNOMEDCT_2005_07_31:154487009 malignant neoplasm of main bronchus ICD9CM_2006:162.2 NCI:C27487 UMLS_CUI:C1336506 disease_ontology DOID:3925 steroid lipomatosis NCI:C27488 UMLS_CUI:C1334662 disease_ontology DOID:3926 mediastinal lipomatosis MESH:C535549 NCI:C27486 SNOMEDCT_US_2016_03_01:190802005 UMLS_CUI:C0406608 pelvic lipomatosis (morphologic abnormality) disease_ontology DOID:3927 pelvic lipomatosis pelvic lipomatosis (morphologic abnormality) SNOMEDCT_2005_07_31:190802005 ICD10CM:E88.2 MESH:D000274 NCI:C84540 OMIM:103200 SNOMEDCT_US_2016_03_01:71404003 UMLS_CUI:C0001529 Dercum disease disease_ontology DOID:3928 OMIM mapping confirmed by DO. [SN]. adiposis dolorosa An inner ear disease which involves inflammation of the inner ear. NCI:C27339 UMLS_CUI:C1168225 inner ear infection disease_ontology DOID:3930 otitis interna An inner ear disease which involves inflammation of the inner ear. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=otitis%20interna ICD10CM:M76.81 MESH:D000868 SNOMEDCT_US_2016_03_01:12694001 SNOMEDCT_US_2016_03_01:157669006 SNOMEDCT_US_2016_03_01:212379008 SNOMEDCT_US_2016_03_01:269407005 UMLS_CUI:C0003152 Anterior compartment syndrome disease_ontology DOID:3933 anterior compartment syndrome Anterior compartment syndrome SNOMEDCT_2005_07_31:157669006 Anterior compartment syndrome SNOMEDCT_2005_07_31:212379008 Anterior compartment syndrome SNOMEDCT_2005_07_31:269407005 NCI:C4501 SNOMEDCT_US_2016_03_01:254828009 UMLS_CUI:C0346117 malignant lipomatous tumor (disorder) malignant tumor of Adipose tissue disease_ontology DOID:3939 lipomatous cancer malignant lipomatous tumor (disorder) SNOMEDCT_2005_07_31:254828009 malignant tumor of Adipose tissue NCI2004_11_17:C4501 A (-)ssRNA virus infectious disease that results_in infection in rodents and humans, has_material_basis_in Arenaviridae viruses. disease_ontology DOID:3944 Arenaviridae infectious disease true A (-)ssRNA virus infectious disease that results_in infection in rodents and humans, has_material_basis_in Arenaviridae viruses. url:http://en.wikipedia.org/wiki/Arenaviridae ICD10CM:E24.0 MESH:D047748 NCI:C113210 SNOMEDCT_US_2016_03_01:190502001 SNOMEDCT_US_2016_03_01:9545009 UMLS_CUI:C0221406 Overproduction of ACTH pituitary-dependent Cushing disease disease_ontology DOID:3946 pituitary-dependent Cushing's disease Overproduction of ACTH MTHICD9_2006:255.3 MESH:D000308 NCI:C113208 SNOMEDCT_US_2016_03_01:111561007 SNOMEDCT_US_2016_03_01:190520005 SNOMEDCT_US_2016_03_01:275437005 SNOMEDCT_US_2016_03_01:47270006 UMLS_CUI:C0001622 Adrenocortical hyperfunction hyperadrenalism hypercortisolism disease_ontology DOID:3947 adrenal gland hyperfunction Adrenocortical hyperfunction SNOMEDCT_2005_07_31:190520005 hyperadrenalism CSP2005:0060-4042 hypercortisolism CSP2005:4006-0047 An adrenal cortex cancer that forms in the outer layer of tissue of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. MESH:D018268 NCI:C9325 OMIM:202300 SNOMEDCT_US_2016_03_01:2227007 SNOMEDCT_US_2016_03_01:255035007 UMLS_CUI:C0206686 Adrenal cortical carcinoma (morphologic abnormality) carcinoma of the Adrenal cortex disease_ontology DOID:3948 adrenocortical carcinoma An adrenal cortex cancer that forms in the outer layer of tissue of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://cancergenome.nih.gov/cancersselected/AdrenocorticalCarcinoma url:http://www.cancer.gov/cancertopics/types/adrenocortical Adrenal cortical carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:2227007 carcinoma of the Adrenal cortex NCI2004_11_17:C9325 An adrenal cancer that is located_in the cortex (steroid hormone-producing tissue) of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. SNOMEDCT_US_2015_03_01:255035007 UMLS_CUI:C1370740 carcinoma of the Adrenal gland disease_ontology DOID:3950 adrenal carcinoma An adrenal cancer that is located_in the cortex (steroid hormone-producing tissue) of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Adrenocortical_carcinoma carcinoma of the Adrenal gland NCI2004_11_17:C9324 ICD10CM:I40 ICD10CM:I40.9 ICD9CM:422 ICD9CM:422.90 NCI:C35206 SNOMEDCT_US_2016_03_01:155336004 SNOMEDCT_US_2016_03_01:194953001 SNOMEDCT_US_2016_03_01:194961006 SNOMEDCT_US_2016_03_01:195569005 SNOMEDCT_US_2016_03_01:46701001 UMLS_CUI:C0155686 disease_ontology DOID:3951 acute myocarditis MESH:D000303 SNOMEDCT_US_2016_03_01:129636003 UMLS_CUI:C0001614 disease_ontology DOID:3952 adrenal cortex disease An endocrine gland cancer located_in the adrenal glands which are located above the kidneys. DOID:11007 ICD10CM:C74 ICD10CM:C74.9 ICD9CM:194.0 MESH:D000310 NCI:C2859 NCI:C9338 SNOMEDCT_US_2016_03_01:127021009 SNOMEDCT_US_2016_03_01:188337000 SNOMEDCT_US_2016_03_01:188338005 SNOMEDCT_US_2016_03_01:363355002 SNOMEDCT_US_2016_03_01:93665005 UMLS_CUI:C0001624 UMLS_CUI:C0750887 adrenal cancer adrenal neoplasm malignant Adrenal tumor malignant neoplasm of adrenal gland neoplasm of adrenal gland (disorder) tumor of the Adrenal gland disease_ontology DOID:3953 adrenal gland cancer An endocrine gland cancer located_in the adrenal glands which are located above the kidneys. url:http://en.wikipedia.org/wiki/Adrenal_gland adrenal neoplasm CSP2005:2009-6040 malignant Adrenal tumor NCI2004_11_17:C9338 malignant neoplasm of adrenal gland ICD9CM_2006:194.0 SNOMEDCT_2005_07_31:188337000 SNOMEDCT_2005_07_31:93665005 neoplasm of adrenal gland (disorder) SNOMEDCT_2005_07_31:127021009 tumor of the Adrenal gland NCI2004_11_17:C2859 An adrenalcortical carcinoma that originating in the cortex of the adrenal gland and derives_from epithelial cells of glandular origin. Adrenal cortex adenocarcinoma Adrenal cortical adenocarcinoma disease_ontology DOID:3959 adrenal cortical adenocarcinoma An adrenalcortical carcinoma that originating in the cortex of the adrenal gland and derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adrenocortical_carcinoma Adrenal cortex adenocarcinoma NCI2004_11_17:C9326 Adrenal cortical adenocarcinoma SNOMEDCT_2005_07_31:2227007 Adrenal cortical adenocarcinoma SNOMEDCT_2005_07_31:255035007 A restrictive cardiomyopathy that affects the endocardium and occurs with white blood cell proliferation, specifically of eosinophils. ICD10CM:I42.3 NCI:C27044 SNOMEDCT_US_2016_03_01:33258008 UMLS_CUI:C0264834 Eosinophilic Endomyocardial disease disease_ontology DOID:396 Loeffler endocarditis A restrictive cardiomyopathy that affects the endocardium and occurs with white blood cell proliferation, specifically of eosinophils. url:http://en.wikipedia.org/wiki/L%C3%B6ffler%27s_endocarditis Eosinophilic Endomyocardial disease NCI2004_11_17:C27044 A thyroid carcinoma that has_material_basis_in follicular cells. MESH:D018263 NCI:C8054 OMIM:188470 SNOMEDCT_US_2016_03_01:189642005 SNOMEDCT_US_2016_03_01:255028004 SNOMEDCT_US_2016_03_01:28173006 SNOMEDCT_US_2016_03_01:5257006 UMLS_CUI:C0206682 Follicular adenocarcinoma (morphologic abnormality) Follicular adenocarcinoma, well differentiated (morphologic abnormality) Follicular carcinoma Follicular carcinoma of the Thyroid gland Follicular thyroid carcinoma (disorder) Thyroid adenocarcinoma disease_ontology DOID:3962 OMIM mapping confirmed by DO. [SN]. follicular thyroid carcinoma A thyroid carcinoma that has_material_basis_in follicular cells. url:http://en.wikipedia.org/wiki/Follicular_thyroid_cancer Follicular adenocarcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:5257006 Follicular adenocarcinoma, well differentiated (morphologic abnormality) SNOMEDCT_2005_07_31:28173006 Follicular carcinoma SNOMEDCT_2005_07_31:189642005 Follicular carcinoma of the Thyroid gland NCI2004_11_17:C8054 Follicular thyroid carcinoma (disorder) SNOMEDCT_2005_07_31:255028004 Thyroid adenocarcinoma NCI2004_11_17:C27380 A thyroid cancer that has_material_basis_in epithelial cells. EFO:0002892 MESH:D013964 NCI:C4815 UMLS_CUI:C0549473 head and neck cancer, Thyroid disease_ontology DOID:3963 thyroid carcinoma A thyroid cancer that has_material_basis_in epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma head and neck cancer, Thyroid NCI2004_11_17:C4815 SNOMEDCT_US_2016_03_01:72174007 UMLS_CUI:C0334327 Follicular adenocarcinoma, trabecular (morphologic abnormality) Trabecular Follicular carcinoma disease_ontology DOID:3964 trabecular follicular adenocarcinoma Follicular adenocarcinoma, trabecular (morphologic abnormality) SNOMEDCT_2005_07_31:72174007 Trabecular Follicular carcinoma NCI2004_11_17:C7385 NCI:C4068 SNOMEDCT_US_2016_03_01:29792007 UMLS_CUI:C0302182 Trabecular adenocarcinoma (morphologic abnormality) trabecular carcinoma disease_ontology DOID:3965 Merkel cell carcinoma Trabecular adenocarcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:29792007 MESH:D018265 NCI:C7380 SNOMEDCT_US_2016_03_01:189643000 SNOMEDCT_US_2016_03_01:21968007 UMLS_CUI:C0206683 disease_ontology DOID:3968 papillary follicular thyroid adenocarcinoma A thyroid carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer. MESH:C536915 NCI:C4035 OMIM:188550 SNOMEDCT_US_2016_03_01:255029007 SNOMEDCT_US_2016_03_01:4797003 UMLS_CUI:C0238463 Papillary carcinoma of the Thyroid gland disease_ontology DOID:3969 OMIM mapping confirmed by DO. [SN]. papillary thyroid carcinoma A thyroid carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer. url:http://cancergenome.nih.gov/cancersselected/thyroid url:http://en.wikipedia.org/wiki/Papillary_thyroid_cancer url:http://www.ncbi.nlm.nih.gov/pubmed/21455196 Papillary carcinoma of the Thyroid gland NCI2004_11_17:C4035 ICD10CM:I42.5 MESH:D002313 NCI:C62798 OMIM:115210 OMIM:609578 OMIM:612422 OMIM:615248 ORDO:75249 SNOMEDCT_US_2016_03_01:389996009 SNOMEDCT_US_2016_03_01:415295002 SNOMEDCT_US_2016_03_01:90828009 UMLS_CUI:C0007196 Cardiomyopathy, constrictive Restrictive cardiomyopathy Restrictive cardiomyopathy (disorder) primary restrictive cardiomyopathy (disorder) disease_ontology Familial restrictive cardiomyopathy DOID:397 Xref MGI. OMIM mappings 115210, 612422 added from NeuroDevNet [WAK]. restrictive cardiomyopathy Cardiomyopathy, constrictive MTHICD9_2006:425.4 Restrictive cardiomyopathy SNOMEDCT_2005_07_31:389996009 Restrictive cardiomyopathy (disorder) SNOMEDCT_2005_07_31:415295002 primary restrictive cardiomyopathy (disorder) SNOMEDCT_2005_07_31:90828009 Familial restrictive cardiomyopathy OMIM:115210 A follicular thyroid carcinoma that has_material_basis_in parafollicular cells. MESH:C536914 NCI:C3879 SNOMEDCT_US_2016_03_01:128916007 SNOMEDCT_US_2016_03_01:255032005 SNOMEDCT_US_2016_03_01:32913002 UMLS_CUI:C0238462 Medullary carcinoma of the Thyroid gland Medullary thyroid carcinoma (disorder) Ultimobranchial thyroid tumor Ultimobranchial thyroid tumour medullary thyroid carcinoma disease_ontology DOID:3973 thyroid medullary carcinoma A follicular thyroid carcinoma that has_material_basis_in parafollicular cells. url:http://en.wikipedia.org/wiki/Medullary_thyroid_cancer Medullary carcinoma of the Thyroid gland NCI2004_11_17:C3879 Medullary thyroid carcinoma (disorder) SNOMEDCT_2005_07_31:255032005 Ultimobranchial thyroid tumor SNOMEDCT_2005_07_31:32913002 Ultimobranchial thyroid tumour SNOMEDCT_2005_07_31:128916007 medullary thyroid carcinoma CSP2005:4003-0036 Medullary carcinoma Medullary carcinoma (morphologic abnormality) Medullary carcinoma NOS (morphologic abnormality) disease_ontology DOID:3974 medullary carcinoma true Medullary carcinoma NCI2004_11_17:C8998 Medullary carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:32913002 Medullary carcinoma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189711009 A cardiomyopathy that is characterized by the pathology occuring outside of the myocardium. ICD9CM:425.8 SNOMEDCT_US_2016_03_01:195580005 UMLS_CUI:C0155699 disease_ontology DOID:3978 extrinsic cardiomyopathy A cardiomyopathy that is characterized by the pathology occuring outside of the myocardium. url:http://en.wikipedia.org/wiki/Cardiomyopathy url:http://www.princeton.edu/~achaney/tmve/wiki100k/docs/Cardiomyopathy.html DOID:1031 Tuberculosis cutis Tuberculosis of skin (disorder) Tuberculosis of skin and subcutaneous cellular tissue, unspecified examination tuberculosis of skin and subcutaneous cellular tissue disease_ontology DOID:398 cutaneous tuberculosis true Tuberculosis cutis MTHICD9_2006:017.0 Tuberculosis of skin (disorder) SNOMEDCT_2005_07_31:66986005 Tuberculosis of skin and subcutaneous cellular tissue, unspecified examination ICD9CM_2006:017.00 A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PANK2 gene on chromosome 20p13. ICD10CM:G23.0 MESH:D006211 NCI:C84988 NCI:C8967 OMIM:234200 ORDO:157850 SNOMEDCT_US_2016_03_01:2992000 UMLS_CUI:C0018523 Hallervorden-Spatz disease Hallervorden-Spatz syndrome NBIA1 Pigmentary pallidal degeneration (disorder) brain Iron Accumulation type I syndrome neurodegeneration with brain iron accumulation 1 disease_ontology DOID:3981 OMIM mapping confirmed by DO. [SN]. pantothenate kinase-associated neurodegeneration A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PANK2 gene on chromosome 20p13. url:http://en.wikipedia.org/wiki/Pantothenate_kinase-associated_neurodegeneration url:https://www.ncbi.nlm.nih.gov/pubmed/8944032 Hallervorden-Spatz disease MTHICD9_2006:333.0 Pigmentary pallidal degeneration (disorder) SNOMEDCT_2005_07_31:2992000 brain Iron Accumulation type I syndrome NCI2004_11_17:C8967 A cranio-facial dystonia that is accompanied by blepharospasm. MESH:D008538 SNOMEDCT_US_2016_03_01:230325003 UMLS_CUI:C0025183 disease_ontology DOID:3982 Meige syndrome A cranio-facial dystonia that is accompanied by blepharospasm. url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm A parasitic helminthiasis infectious disease that involves infection of the intestine in goats, pigs and humans by the nematode Oesophagostomum bifurcum. The symptoms are a low-grade fever, tenderness in the lower-right quadrant and painless cutaneous masses in the lower abdominal region. Rarely, Oesophagostomum spp will perforate the bowel wall, causing purulent peritonitis or migrate to the skin, producing cutaneous nodules. MESH:D009814 SNOMEDCT_US_2016_03_01:22500005 UMLS_CUI:C0028887 Infection by Oesophagostomum disease_ontology DOID:3983 oesophagostomiasis A parasitic helminthiasis infectious disease that involves infection of the intestine in goats, pigs and humans by the nematode Oesophagostomum bifurcum. The symptoms are a low-grade fever, tenderness in the lower-right quadrant and painless cutaneous masses in the lower abdominal region. Rarely, Oesophagostomum spp will perforate the bowel wall, causing purulent peritonitis or migrate to the skin, producing cutaneous nodules. url:http://www.dpd.cdc.gov/dpdx/HTML/Oesophagostomiasis.htm Infection by Oesophagostomum SNOMEDCT_2005_07_31:22500005 A parasitic helminthiasis infectious disease that involves infection of the intestine in horses by the nematode Strongylus equinus. Infection by Strongylus equinus (disorder) equine strongyle infectious disease disease_ontology DOID:3984 Strongylus equinus infectious disease true A parasitic helminthiasis infectious disease that involves infection of the intestine in horses by the nematode Strongylus equinus. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1236195/pdf/compmed00004-0024.pdf Infection by Strongylus equinus (disorder) SNOMEDCT_2005_07_31:67509002 A trichostrongyloidiasis that involves parasitic infection of the ruminant gastrointestinal tract by nematodes of the genus Ostertagia. MESH:D010029 UMLS_CUI:C0029471 disease_ontology DOID:3985 ostertagiasis A trichostrongyloidiasis that involves parasitic infection of the ruminant gastrointestinal tract by nematodes of the genus Ostertagia. url:http://jvdi.org/cgi/reprint/1/2/195.pdf A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes. DOID:10096 DOID:12688 DOID:12691 DOID:415 DOID:9901 DOID:9902 MESH:D014375 MESH:D014376 SNOMEDCT_US_2016_03_01:15202009 UMLS_CUI:C0041295 disease_ontology DOID:399 tuberculosis A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes. url:http://www.merckmanuals.com/home/sec17/ch193/ch193a.html url:www.uphs.upenn.edu/bugdrug/antibiotic_manual/atstbdx99.pdf An organ system cancer that is located_in the kidneys, ureteres, bladder or urethra. ICD10CM:C68.9 ICD9CM:189.9 SNOMEDCT_US_2016_03_01:190132004 SNOMEDCT_US_2016_03_01:448233000 UMLS_CUI:C0348371 disease_ontology DOID:3996 urinary system cancer An organ system cancer that is located_in the kidneys, ureteres, bladder or urethra. url:http://en.wikipedia.org/wiki/Urinary_system disease_ontology DOID:3997 urinary tract infiltrating transitional cell carcinoma true NCI:C40297 UMLS_CUI:C1511053 Bartholin gland transitional cell carcinoma disease_ontology DOID:3998 Bartholin's gland transitional cell carcinoma A vulva carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in Bartholin's gland. NCI:C9055 SNOMEDCT_US_2016_03_01:276876007 SNOMEDCT_US_2016_03_01:399533005 UMLS_CUI:C0349561 Bartholin gland carcinoma Bartholin's gland cancer carcinoma of Bartholin's gland disease_ontology carcinoma of Bartholin's gland DOID:3999 Bartholin's gland carcinoma A vulva carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in Bartholin's gland. url:http://en.wikipedia.org/wiki/Bartholin%27s_gland url:http://en.wikipedia.org/wiki/Carcinoma Bartholin's gland cancer NCI2004_11_17:C9055 carcinoma of Bartholin's gland SNOMEDCT_2005_07_31:276876007 A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism. MESH:D004194 NCI:C2991 SNOMEDCT_US_2016_03_01:64572001 UMLS_CUI:C0012634 disease_ontology DOID:4 disease A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism. url:http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf DOID:2637 DOID:4002 NCI:C40089 NCI:C5240 NCI:C7280 UMLS_CUI:C1335184 UMLS_CUI:C1335185 UMLS_CUI:C1518237 malignant ovarian transitional cell neoplasm ovarian transitional cell cancer transitional cell carcinoma of Ovary disease_ontology ovarian transitional cell neoplasm DOID:4000 ovary transitional cell carcinoma transitional cell carcinoma of Ovary NCI2004_11_17:C5240 EFO:0001075 MESH:C538090 NCI:C4908 UMLS_CUI:C0677886 Ovarian carcinoma disease_ontology DOID:4001 OMIM mapping confirmed by DO. [SN]. ovarian carcinoma Ovarian carcinoma NCI2004_11_17:C4908 NCI:C54287 SNOMEDCT_US_2016_03_01:5600009 UMLS_CUI:C0334270 Cylindrical cell carcinoma disease_ontology DOID:4003 Schneiderian carcinoma Cylindrical cell carcinoma SNOMEDCT_2005_07_31:5600009 NCI:C40154 UMLS_CUI:C1516864 disease_ontology DOID:4005 endometrial transitional cell carcinoma A bladder carcinoma that has_material_basis_in transitional cells located_in the lining of the bladder. NCI:C39851 SNOMEDCT_US_2016_03_01:255109008 SNOMEDCT_US_2016_03_01:393562002 UMLS_CUI:C0279680 bladder transitional cell carcinoma transitional cell carcinoma of bladder urinary bladder urothelial carcinoma urothelial bladder carcinoma disease_ontology DOID:4006 bladder urothelial carcinoma A bladder carcinoma that has_material_basis_in transitional cells located_in the lining of the bladder. url:http://cancergenome.nih.gov/cancersselected/UrothelialBladderCarcinoma url:http://www.cancer.gov/dictionary?cdrid=46629 transitional cell carcinoma of bladder SNOMEDCT_2005_07_31:255109008 A urinary bladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. EFO:0000292 NCI:C4912 SNOMEDCT_US_2016_03_01:154540000 SNOMEDCT_US_2016_03_01:255108000 SNOMEDCT_US_2016_03_01:269607003 UMLS_CUI:C0699885 carcinoma OF BLADDER carcinoma bladder carcinoma of bladder (disorder) carcinoma of urinary bladder disease_ontology carcinoma of bladder DOID:4007 bladder carcinoma A urinary bladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://nci.nih.gov/cancertopics/types/bladder carcinoma OF BLADDER MTH:108 carcinoma bladder SNOMEDCT_2005_07_31:154540000 carcinoma bladder SNOMEDCT_2005_07_31:269607003 carcinoma of bladder (disorder) SNOMEDCT_2005_07_31:255108000 carcinoma of urinary bladder NCI2004_11_17:C4912 NCI:C40104 UMLS_CUI:C1517128 disease_ontology DOID:4008 fallopian tube transitional cell carcinoma Urothelial carcinoma of the renal Pelvis and Ureter disease_ontology DOID:4009 renal pelvis and ureter transitional cell cancer true Urothelial carcinoma of the renal Pelvis and Ureter NCI2004_11_17:C7716 A tuberculosis that is resistant to isoniazid and rifampicin, the two most powerful first-line anti-TB drugs. MESH:D018088 SNOMEDCT_US_2016_03_01:423092005 UMLS_CUI:C0206526 disease_ontology DOID:401 multidrug-resistant tuberculosis A tuberculosis that is resistant to isoniazid and rifampicin, the two most powerful first-line anti-TB drugs. url:http://en.wikipedia.org/wiki/Multidrug-resistant_tuberculosis disease_ontology DOID:4010 renal pelvis and ureter cancer true transitional cell carcinoma of prostate disease_ontology DOID:4011 prostate transitional cell carcinoma transitional cell carcinoma of prostate NCI2004_11_17:C5540 A transitional cell carcinoma that has several papillary fronds with central fibrovascular core lined by transitional type epithelium. NCI:C4122 SNOMEDCT_US_2016_03_01:12400006 UMLS_CUI:C0334274 Papillary transitional cell carcinoma (morphologic abnormality) disease_ontology DOID:4012 papillary transitional carcinoma A transitional cell carcinoma that has several papillary fronds with central fibrovascular core lined by transitional type epithelium. url:http://esynopsis.uchc.edu/eAtlas/GU/908.htm Papillary transitional cell carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:12400006 An urethra cancer that is characterized by cancer cells forming in the renal pelvis and ureter. NCI:C6166 UMLS_CUI:C0863015 urethral transitional cell carcinoma disease_ontology DOID:4013 urethra transitional cell carcinoma An urethra cancer that is characterized by cancer cells forming in the renal pelvis and ureter. url:http://cancer.emedtv.com/transitional-cell-carcinoma-%28of-the-ureter-and-renal-pelvis%29/transitional-cell-carcinoma-%28of-the-ureter-and-renal-pelvis%29.html urethral transitional cell carcinoma NCI2004_11_17:C6166 A transitional cell carcinoma that has sarcoma-like components arising from the malignant transitional epithelium. NCI:C4120 SNOMEDCT_US_2016_03_01:112676006 UMLS_CUI:C0334271 transitional cell carcinoma, sarcomatoid transitional spindle cell carcinoma disease_ontology DOID:4014 sarcomatoid transitional cell carcinoma A transitional cell carcinoma that has sarcoma-like components arising from the malignant transitional epithelium. url:http://www.sciencedirect.com/science/article/pii/S0090429505013439 url:http://www.tua.org.tw/magazine/FileM/dw2008331112526_10734.pdf transitional cell carcinoma, sarcomatoid SNOMEDCT_2005_07_31:112676006 transitional spindle cell carcinoma NCI2004_11_17:C4120 A squamous cell carcinoma that is usually composed of the squamous cell type and results in fusiform development of rapidly proliferating cells. MESH:D002277 NCI:C27004 SNOMEDCT_US_2016_03_01:23109009 SNOMEDCT_US_2016_03_01:65692009 UMLS_CUI:C0205697 sarcomatoid carcinoma spindle cell carcinoma (morphologic abnormality) disease_ontology DOID:4015 spindle cell carcinoma A squamous cell carcinoma that is usually composed of the squamous cell type and results in fusiform development of rapidly proliferating cells. url:http://medical-dictionary.thefreedictionary.com/spindle+cell+carcinoma sarcomatoid carcinoma NCI2004_11_17:C27004 sarcomatoid carcinoma SNOMEDCT_2005_07_31:23109009 spindle cell carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:65692009 A gastrointestinal tuberculosis that involves formation of painful ulcerative mucosal lesions located_in tongue, located_in palate, located_in maxilla or located_in mandible. MESH:D014393 SNOMEDCT_US_2016_03_01:235067001 UMLS_CUI:C0041323 Oral tuberculosis (disorder) disease_ontology DOID:402 oral tuberculosis A gastrointestinal tuberculosis that involves formation of painful ulcerative mucosal lesions located_in tongue, located_in palate, located_in maxilla or located_in mandible. url:http://www.ncbi.nlm.nih.gov/pubmed/16900894 Oral tuberculosis (disorder) SNOMEDCT_2005_07_31:235067001 psychomotor disorder disease_ontology DOID:4020 psychomotor disease true psychomotor disorder CSP2005:2484-1601 MESH:D014518 NCI:C123159 OMIM:191650 SNOMEDCT_US_2016_03_01:12818004 UMLS_CUI:C0041960 disease_ontology DOID:4022 OMIM mapping confirmed by DO. [LS]. ureterocele MESH:D008039 NCI:C3190 SNOMEDCT_US_2016_03_01:307594007 SNOMEDCT_US_2016_03_01:37995004 UMLS_CUI:C0023743 Leather-bottle stomach Linitis plastica (morphologic abnormality) disease_ontology DOID:4023 linitis plastica Leather-bottle stomach SNOMEDCT_2005_07_31:307594007 Linitis plastica (morphologic abnormality) SNOMEDCT_2005_07_31:37995004 An adenocarcinoma that results in a hard structure owing to the formation of dense connective tissue in the stroma. MESH:D002293 NCI:C2928 SNOMEDCT_US_2016_03_01:4584002 UMLS_CUI:C0007135 Scirrhous adenocarcinoma (morphologic abnormality) adenocarcinoma with Productive Fibrosis disease_ontology DOID:4024 scirrhous adenocarcinoma An adenocarcinoma that results in a hard structure owing to the formation of dense connective tissue in the stroma. url:http://www.online-medical-dictionary.org/Scirrhous+Adenocarcinoma.asp?q=Scirrhous+Adenocarcinoma Scirrhous adenocarcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:4584002 adenocarcinoma with Productive Fibrosis NCI2004_11_17:C2928 MESH:D013231 UMLS_CUI:C0038235 disease_ontology DOID:4025 steatitis disease_ontology DOID:4026 vitamin E deficiency true FETAL DISTRESS Fetal distress Fetal distress (finding) Fetal distress NOS Fetal distress NOS (finding) Fetal distress unspecified (finding) disease_ontology DOID:4027 fetal distress true FETAL DISTRESS MTH:NOCODE Fetal distress SNOMEDCT_2005_07_31:157098009 Fetal distress SNOMEDCT_2005_07_31:267336002 Fetal distress SNOMEDCT_2005_07_31:268873007 Fetal distress (finding) SNOMEDCT_2005_07_31:130955003 Fetal distress NOS SNOMEDCT_2005_07_31:157103006 Fetal distress NOS (finding) SNOMEDCT_2005_07_31:199604002 Fetal distress unspecified (finding) SNOMEDCT_2005_07_31:199591006 A skin hemangioma characterized by the presence of small red dots that cluster together to form a linear or snake-like array or ring-shaped pattern located_in the blood vessels of the skin. ICD10CM:L81.7 MESH:C536366 NCI:C3926 OMIM:106050 OMIM:300652 ORDO:95429 SNOMEDCT_US_2016_03_01:11790000 SNOMEDCT_US_2016_03_01:195382003 SNOMEDCT_US_2016_03_01:49465005 UMLS_CUI:C0263637 Angioma serpiginosum of skin disease_ontology DOID:4028 Xref MGI. angioma serpiginosum A skin hemangioma characterized by the presence of small red dots that cluster together to form a linear or snake-like array or ring-shaped pattern located_in the blood vessels of the skin. url:http://www.dermnetnz.org/vascular/angioma-serpiginosa.html Angioma serpiginosum of skin SNOMEDCT_2005_07_31:195382003 A stomach disease that is an inflammation of the lining of the stomach. DOID:4032 DOID:8697 DOID:8845 DOID:9190 ICD10CM:K29.7 MESH:D005756 NCI:C26780 SNOMEDCT_US_2016_03_01:155711008 SNOMEDCT_US_2016_03_01:196743006 SNOMEDCT_US_2016_03_01:235653009 SNOMEDCT_US_2016_03_01:266503008 SNOMEDCT_US_2016_03_01:4556007 UMLS_CUI:C0017152 Erosive Gastritis Erosive gastropathy acute gastric mucosal erosion disease_ontology DOID:4029 gastritis A stomach disease that is an inflammation of the lining of the stomach. url:http://en.wikipedia.org/wiki/Gastritis Erosive Gastritis NCI2004_11_17:C27013 Erosive gastropathy SNOMEDCT_2005_07_31:413216002 acute gastric mucosal erosion SNOMEDCT_2005_07_31:18665000 A gastrointestinal system disease that is located_in the mouth. MESH:D009059 NCI:C27641 NCI:C3240 SNOMEDCT_US_2016_03_01:118938008 SNOMEDCT_US_2016_03_01:155630004 SNOMEDCT_US_2016_03_01:266484002 UMLS_CUI:C0026636 disease_ontology DOID:403 mouth disease A gastrointestinal system disease that is located_in the mouth. url:http://en.wikipedia.org/wiki/Oral_and_maxillofacial_pathology ICD9CM:535.7 MESH:C535952 NCI:C27052 SNOMEDCT_US_2016_03_01:196738004 SNOMEDCT_US_2016_03_01:66329006 UMLS_CUI:C0267154 disease_ontology DOID:4030 eosinophilic gastritis ICD9CM:558.41 MESH:C535952 NCI:C35330 SNOMEDCT_US_2016_03_01:32183007 SNOMEDCT_US_2016_03_01:359804008 SNOMEDCT_US_2016_03_01:68270003 UMLS_CUI:C1262481 Eosinophilic Gastroenteritis Eosinophilic gastroenteritis Eosinophilic gastroenteritis (disorder) disease_ontology DOID:4031 eosinophilic gastroenteritis Eosinophilic Gastroenteritis NCI2004_11_17:C35330 Eosinophilic gastroenteritis SNOMEDCT_2005_07_31:32183007 Eosinophilic gastroenteritis (disorder) SNOMEDCT_2005_07_31:359804008 A gastritis that involves inflammation of the stomach lining caused by bacteria. The disease has_symptom abdominal pain, has_symptom indigestion, has_symptom ulcer formation, has_symptom abdominal bloating, has_symptom nausea and has_symptom vomiting. NCI:C27340 UMLS_CUI:C0948039 disease_ontology DOID:4033 bacterial gastritis A gastritis that involves inflammation of the stomach lining caused by bacteria. The disease has_symptom abdominal pain, has_symptom indigestion, has_symptom ulcer formation, has_symptom abdominal bloating, has_symptom nausea and has_symptom vomiting. url:http://digestive.niddk.nih.gov/ddiseases/pubs/gastritis/ url:http://www.merck.com/mmhe/sec09/ch121/ch121b.html A gastrointestinal system infectious disease that involves inflammation of the stomach lining caused by fungal infection in immunocompromised patients. NCI:C27342 UMLS_CUI:C0948638 disease_ontology DOID:4034 fungal gastritis A gastrointestinal system infectious disease that involves inflammation of the stomach lining caused by fungal infection in immunocompromised patients. url:url:http://www.merck.com/mmpe/sec02/ch013/ch013c.html NCI:C27051 SNOMEDCT_US_2016_03_01:235658000 SNOMEDCT_US_2016_03_01:360375007 UMLS_CUI:C1283271 disease_ontology DOID:4035 lymphocytic gastritis A commensal Helicobacter infectious disease that involves inflammation of the stomach lining caused by Helicobacter pylori, which contributes to ulcer formation by increasing acid production, interfering with the normal defenses against stomach acid, and producing toxins. The symptoms include indigestion and pain or discomfort in the upper abdomen. Helicobacter gastritis Helicobacter-associated gastritis (disorder) disease_ontology DOID:4036 Helicobacter pylori gastritis true A commensal Helicobacter infectious disease that involves inflammation of the stomach lining caused by Helicobacter pylori, which contributes to ulcer formation by increasing acid production, interfering with the normal defenses against stomach acid, and producing toxins. The symptoms include indigestion and pain or discomfort in the upper abdomen. url:http://jcp.bmjjournals.com/content/54/10/774.full url:http://www.merck.com/mmhe/sec09/ch121/ch121b.html Helicobacter gastritis SNOMEDCT_2005_07_31:155716003 Helicobacter gastritis SNOMEDCT_2005_07_31:186143000 Helicobacter gastritis SNOMEDCT_2005_07_31:196741008 Helicobacter-associated gastritis (disorder) SNOMEDCT_2005_07_31:89538001 NCI:C27329 UMLS_CUI:C0877152 disease_ontology DOID:4037 necrotizing gastritis ICD10CM:K29.6 NCI:C27348 UMLS_CUI:C1112577 disease_ontology DOID:4038 granulomatous gastritis disease_ontology DOID:4039 Crohn's associated gastritis true An abdominal tuberculosis that results_in infection located_in gastrointestinal tract. The infection has_symptom abdominal pain, has_symptom weight loss, has_symptom fever, has_symptom anorexia, has_symptom change in bowel habits, has_symptom nausea, and has_symptom vomiting. DOID:9802 MESH:D014385 SNOMEDCT_US_2016_03_01:154286002 SNOMEDCT_US_2016_03_01:186228005 SNOMEDCT_US_2016_03_01:240376003 UMLS_CUI:C0041312 Tuberculosis of gastrointestinal tract Tuberculosis of gastrointestinal tract (disorder) Tuberculosis of gastrointestinal tract NOS (disorder) Tuberculosis of intestines, peritoneum and mesenteric glands (disorder) Tuberculosis of intestines, peritoneum, and mesenteric glands tuberculosis of intestines, peritoneum and mesenteric glands disease_ontology DOID:404 gastrointestinal tuberculosis An abdominal tuberculosis that results_in infection located_in gastrointestinal tract. The infection has_symptom abdominal pain, has_symptom weight loss, has_symptom fever, has_symptom anorexia, has_symptom change in bowel habits, has_symptom nausea, and has_symptom vomiting. url:http://emedicine.medscape.com/article/376015-overview url:http://smj.sma.org.sg/5006/5006pe1.pdf url:http://www.ncbi.nlm.nih.gov/pubmed/12864956 Tuberculosis of gastrointestinal tract SNOMEDCT_2005_07_31:154286002 Tuberculosis of gastrointestinal tract (disorder) SNOMEDCT_2005_07_31:240376003 Tuberculosis of gastrointestinal tract NOS (disorder) SNOMEDCT_2005_07_31:186228005 Tuberculosis of intestines, peritoneum and mesenteric glands (disorder) SNOMEDCT_2005_07_31:186225008 Tuberculosis of intestines, peritoneum, and mesenteric glands ICD9CM_2006:014 NCI:C6516 UMLS_CUI:C1334619 malignant tumor of Skeletal Muscle disease_ontology DOID:4043 skeletal muscle cancer malignant tumor of Skeletal Muscle NCI2004_11_17:C6516 NCI:C6514 SNOMEDCT_US_2016_03_01:699955004 UMLS_CUI:C1335971 tumor of Skeletal Muscle disease_ontology DOID:4044 skeletal muscle neoplasm tumor of Skeletal Muscle NCI2004_11_17:C6514 A musculoskeletal system cancer that is located_in muscle. DOID:4046 ICD10CM:C49 MESH:D009217 MESH:D019042 NCI:C4883 SNOMEDCT_US_2016_03_01:20667008 SNOMEDCT_US_2016_03_01:363495004 SNOMEDCT_US_2016_03_01:93913006 UMLS_CUI:C0027095 UMLS_CUI:C0684743 Myosarcoma (morphologic abnormality) malignant neoplasm of muscle, NOS malignant tumor of muscle (disorder) malignant tumor of the Muscle myosarcoma disease_ontology DOID:4045 muscle cancer A musculoskeletal system cancer that is located_in muscle. url:http://en.wikipedia.org/wiki/Muscle Myosarcoma (morphologic abnormality) SNOMEDCT_2005_07_31:20667008 malignant neoplasm of muscle, NOS SNOMEDCT_2005_07_31:93913006 malignant tumor of muscle (disorder) SNOMEDCT_2005_07_31:363495004 malignant tumor of the Muscle NCI2004_11_17:C4883 A rhabdomyosarcoma and sarcoma of liver that are located_in the liver. NCI:C5834 UMLS_CUI:C1333975 Rhabdomyosarcoma of Liver disease_ontology DOID:4047 liver rhabdomyosarcoma A rhabdomyosarcoma and sarcoma of liver that are located_in the liver. url:http://www.cancer.gov/cancertopics/pdq/treatment/childrhabdomyosarcoma/HealthProfessional/page6 Rhabdomyosarcoma of Liver NCI2004_11_17:C5834 NCI:C5464 UMLS_CUI:C1332891 Rhabdomyosarcoma of the CNS disease_ontology DOID:4048 central nervous system rhabdomyosarcoma Rhabdomyosarcoma of the CNS NCI2004_11_17:C5464 A rhabdomyosarcoma and sarcoma of the mediastinum that is located_in the mediastinum and affects children and adolescents. NCI:C6617 UMLS_CUI:C1334677 Rhabdomyosarcoma of mediastinum disease_ontology DOID:4049 mediastinum rhabdomyosarcoma A rhabdomyosarcoma and sarcoma of the mediastinum that is located_in the mediastinum and affects children and adolescents. url:http://www.ijri.org/article.asp?issn=0971-3026;year=2006;volume=16;issue=4;spage=655;epage=656;aulast=Moorthy Rhabdomyosarcoma of mediastinum NCI2004_11_17:C6617 A sarcoma and malignant mediastinal mesenchymnal tumor that is located_in the mediastinum. NCI:C6606 UMLS_CUI:C1334678 sarcoma of mediastinum disease_ontology DOID:4050 mediastinum sarcoma A sarcoma and malignant mediastinal mesenchymnal tumor that is located_in the mediastinum. url:http://www.searchmedica.com/search.html?q=mediastinal%20sarcoma sarcoma of mediastinum NCI2004_11_17:C6606 DOID:4382 MESH:D018232 NCI:C3749 NCI:C7958 OMIM:268220 SNOMEDCT_US_2016_03_01:404053004 SNOMEDCT_US_2016_03_01:63449009 UMLS_CUI:C0206655 UMLS_CUI:C0279613 Alveolar Rhabdomyosarcoma Alveolar rhabdomyosarcoma (disorder) Alveolar rhabdomyosarcoma (morphologic abnormality) alveolar childhood rhabdomyosarcoma pediatric Alveolar Rhabdomyosarcoma disease_ontology DOID:4051 OMIM mapping confirmed by DO. [SN]. alveolar rhabdomyosarcoma Alveolar Rhabdomyosarcoma NCI2004_11_17:C3749 Alveolar rhabdomyosarcoma (disorder) SNOMEDCT_2005_07_31:404053004 Alveolar rhabdomyosarcoma (morphologic abnormality) SNOMEDCT_2005_07_31:63449009 pediatric Alveolar Rhabdomyosarcoma NCI2004_11_17:C7958 relapsed Rhabdomyosarcoma disease_ontology DOID:4052 rhabdomyosarcoma recurrent true relapsed Rhabdomyosarcoma NCI2004_11_17:C8824 A rectum sarcoma that is located_in the rectum in which the cancer cells are thought to arise from skeletal muscle progenitors. NCI:C5627 UMLS_CUI:C1335687 Rhabdomyosarcoma of rectum disease_ontology DOID:4053 rectum rhabdomyosarcoma A rectum sarcoma that is located_in the rectum in which the cancer cells are thought to arise from skeletal muscle progenitors. url:http://en.wikipedia.org/wiki/Rhabdomyosarcoma Rhabdomyosarcoma of rectum NCI2004_11_17:C5627 A prostate cancer that is located_in the prostate. NCI:C7731 UMLS_CUI:C0238393 sarcoma of the prostate disease_ontology DOID:4054 prostate sarcoma A prostate cancer that is located_in the prostate. url:http://www.searchmedica.com/search.html?q=prostate%20sarcoma sarcoma of the prostate NCI2004_11_17:C7731 NCI:C4716 SNOMEDCT_US_2016_03_01:128750008 UMLS_CUI:C0431111 Rhabdomyosarcoma with ganglionic differentiation (morphologic abnormality) disease_ontology DOID:4055 ectomesenchymoma Rhabdomyosarcoma with ganglionic differentiation (morphologic abnormality) SNOMEDCT_2005_07_31:128750008 disease_ontology DOID:4056 adult rhabdomyosarcoma true A gallbladder sarcoma that is located_in the gallbladder. NCI:C5839 UMLS_CUI:C1333756 Rhabdomyosarcoma of the gallbladder disease_ontology DOID:4057 gallbladder rhabdomyosarcoma A gallbladder sarcoma that is located_in the gallbladder. url:http://en.wikipedia.org/wiki/Rhabdomyosarcoma url:http://gut.bmj.com/content/35/6/854 Rhabdomyosarcoma of the gallbladder NCI2004_11_17:C5839 A sarcoma that is located_in the gallbladder. NCI:C5736 UMLS_CUI:C1333757 malignant mesenchymal tumor of gallbladder disease_ontology DOID:4058 gallbladder sarcoma A sarcoma that is located_in the gallbladder. url:http://www.searchmedica.com/search.html?q=gallbladder%20sarcoma&c=pc&ss=defLink&fr=true malignant mesenchymal tumor of gallbladder NCI2004_11_17:C5736 NCI:C5236 UMLS_CUI:C1335176 Rhabdomyosarcoma of Ovary disease_ontology DOID:4059 ovary rhabdomyosarcoma Rhabdomyosarcoma of Ovary NCI2004_11_17:C5236 NCI:C5190 UMLS_CUI:C1332637 Rhabdomyosarcoma of the breast disease_ontology DOID:4060 breast rhabdomyosarcoma Rhabdomyosarcoma of the breast NCI2004_11_17:C5190 A testis sarcoma that arises from mesenchymal cells and is located_in the testis. NCI:C6378 UMLS_CUI:C1336726 Rhabdomyosarcoma of testis disease_ontology DOID:4061 testis rhabdomyosarcoma A testis sarcoma that arises from mesenchymal cells and is located_in the testis. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=21470524 Rhabdomyosarcoma of testis NCI2004_11_17:C6378 A sarcoma and malignant neoplasm of testis that is located_in the testis. NCI:C6359 UMLS_CUI:C1336727 sarcoma of testis disease_ontology DOID:4062 testis sarcoma A sarcoma and malignant neoplasm of testis that is located_in the testis. url:http://www.searchmedica.com/search.html?q=sarcoma%20of%20the%20testis&c=pc&ss= sarcoma of testis NCI2004_11_17:C6359 A sarcoma and malignant tumor of extrahepatic bile duct that is located_in the bile duct. NCI:C5029 UMLS_CUI:C2205442 sarcoma of the bile duct disease_ontology DOID:4064 bile duct sarcoma A sarcoma and malignant tumor of extrahepatic bile duct that is located_in the bile duct. url:http://en.wikipedia.org/wiki/Sarcoma_botryoides sarcoma of the bile duct NCI2004_11_17:C5029 SNOMEDCT_US_2016_03_01:62383007 UMLS_CUI:C0334481 mixed embryonal rhabdomyosarcoma and alveolar rhabdomyosarcoma mixed type Rhabdomyosarcoma disease_ontology DOID:4065 mixed type rhabdomyosarcoma mixed embryonal rhabdomyosarcoma and alveolar rhabdomyosarcoma SNOMEDCT_2005_07_31:62383007 mixed type Rhabdomyosarcoma NCI2004_11_17:C4259 A rhabdomyosarcoma and sarcoma of the anus that is located_in the anus. NCI:C5610 UMLS_CUI:C1332276 rhabdomyosarcoma of anus disease_ontology DOID:4066 anus rhabdomyosarcoma A rhabdomyosarcoma and sarcoma of the anus that is located_in the anus. url:http://wiki.medpedia.com/Childhood_Rhabdomyosarcoma rhabdomyosarcoma of anus NCI2004_11_17:C5610 A sarcoma and malignant neoplasm of anus that is located_in the anus. NCI:C5611 UMLS_CUI:C1332277 sarcoma of anus disease_ontology DOID:4067 anus sarcoma A sarcoma and malignant neoplasm of anus that is located_in the anus. url:http://en.wikipedia.org/wiki/Sarcoma sarcoma of anus NCI2004_11_17:C5611 A gastrointestinal tuberculosis that involves infection located_in liver, which results in the formation of tuberculous granulomas. The infection has_symptom fever, has_symptom anorexia, has_symptom weight loss, has_symptom abdominal pain and has_symptom jaundice. MESH:D014386 SNOMEDCT_US_2016_03_01:186273003 UMLS_CUI:C0041313 Tuberculosis of liver (disorder) disease_ontology DOID:407 hepatic tuberculosis A gastrointestinal tuberculosis that involves infection located_in liver, which results in the formation of tuberculous granulomas. The infection has_symptom fever, has_symptom anorexia, has_symptom weight loss, has_symptom abdominal pain and has_symptom jaundice. url:http://lrsitbrd.nic.in/IJTB/Year%201994/July%201994/July%201994%20B.pdf Tuberculosis of liver (disorder) SNOMEDCT_2005_07_31:186273003 MESH:D004383 SNOMEDCT_US_2016_03_01:9733003 UMLS_CUI:C0013299 Duodenogastric reflux (finding) disease_ontology DOID:4071 duodenogastric reflux Duodenogastric reflux (finding) SNOMEDCT_2005_07_31:9733003 MESH:D004378 SNOMEDCT_US_2016_03_01:196598004 SNOMEDCT_US_2016_03_01:52182008 UMLS_CUI:C0013289 duodenum disorder disease_ontology DOID:4072 duodenal disease duodenum disorder CSP2005:1248-4501 NCI:C3874 SNOMEDCT_US_2016_03_01:235966007 UMLS_CUI:C0238337 cystadenocarcinoma of pancreas (disorder) disease_ontology DOID:4073 pancreatic cystadenocarcinoma cystadenocarcinoma of pancreas (disorder) SNOMEDCT_2005_07_31:235966007 A pancreatic carcinoma that derives_from epithelial cells of glandular origin. NCI:C8294 SNOMEDCT_US_2016_03_01:700423003 UMLS_CUI:C0281361 pancreas adenocarcinoma disease_ontology adenocarcinoma of the pancreas DOID:4074 pancreatic adenocarcinoma A pancreatic carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma pancreas adenocarcinoma NCI2004_11_17:C8294 NCI:C4130 SNOMEDCT_US_2016_03_01:50422007 UMLS_CUI:C0334286 bile duct cystadenocarcinoma (morphologic abnormality) biliary cystadenocarcinoma disease_ontology DOID:4075 bile duct cystadenocarcinoma bile duct cystadenocarcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:50422007 biliary cystadenocarcinoma NCI2004_11_17:C4130 disease_ontology DOID:4076 pleomorphic adenoma of the breast true disease_ontology DOID:4077 metastasizing mixed tumor of salivary gland true A tricuspid valve disease that is characterized by the narrowing of the orifice of the tricuspid valve of the heart. This causes increased resistance to blood flow through the valve. MESH:D014264 NCI:C50783 SNOMEDCT_US_2016_03_01:155346002 SNOMEDCT_US_2016_03_01:266296006 SNOMEDCT_US_2016_03_01:49915006 UMLS_CUI:C0040963 Tricuspid stenosis disease_ontology DOID:4078 tricuspid valve stenosis A tricuspid valve disease that is characterized by the narrowing of the orifice of the tricuspid valve of the heart. This causes increased resistance to blood flow through the valve. url:http://en.wikipedia.org/wiki/Tricuspid_valve_stenosis Tricuspid stenosis MTHICD9_2006:397.0 A heart disease involving one or more of the four valves of the heart (the aortic and mitral valves on the left and the pulmonary and tricuspid valves on the right). DOID:989 MESH:D006349 MESH:D016127 NCI:C45525 SNOMEDCT_US_2016_03_01:195013005 SNOMEDCT_US_2016_03_01:368009 SNOMEDCT_US_2016_03_01:398995000 UMLS_CUI:C0018824 UMLS_CUI:C0079485 Valvular heart disease disease_ontology DOID:4079 heart valve disease A heart disease involving one or more of the four valves of the heart (the aortic and mitral valves on the left and the pulmonary and tricuspid valves on the right). url:http://en.wikipedia.org/wiki/Heart_valve_disease Valvular heart disease SNOMEDCT_2005_07_31:195013005 A tricuspid valve disease that is characterized by failure of the heart's tricuspid valve to close properly during systole. As a result, with each heart beat, blood is pumped out from the right side of the heart in the opposite direction to normal. MESH:D014262 NCI:C50842 NCI:C50843 SNOMEDCT_US_2016_03_01:111287006 SNOMEDCT_US_2016_03_01:155347006 SNOMEDCT_US_2016_03_01:251009000 SNOMEDCT_US_2016_03_01:266298007 UMLS_CUI:C0040961 Tricuspid incompetence Tricuspid regurgitation Tricuspid valve regurgitation (disorder) disease_ontology DOID:4080 tricuspid valve insufficiency A tricuspid valve disease that is characterized by failure of the heart's tricuspid valve to close properly during systole. As a result, with each heart beat, blood is pumped out from the right side of the heart in the opposite direction to normal. url:http://en.wikipedia.org/wiki/Tricuspid_insufficiency Tricuspid incompetence SNOMEDCT_2005_07_31:155347006 Tricuspid incompetence SNOMEDCT_2005_07_31:266298007 Tricuspid regurgitation MTHICD9_2006:397.0 Tricuspid regurgitation SNOMEDCT_2005_07_31:251009000 Tricuspid valve regurgitation (disorder) SNOMEDCT_2005_07_31:111287006 NCI:C39934 UMLS_CUI:C1515301 disease_ontology DOID:4084 testicular trophoblastic tumor A germ cell and embryonal cancer that derives_from trophoblastic tissue. MESH:D014328 NCI:C3422 SNOMEDCT_US_2016_03_01:115234004 SNOMEDCT_US_2016_03_01:134334000 SNOMEDCT_US_2016_03_01:189855009 SNOMEDCT_US_2016_03_01:189858006 UMLS_CUI:C0041182 Trophoblastic neoplasm (morphologic abnormality) Trophoblastic neoplasm NOS (morphologic abnormality) Trophoblastic tumor Trophoblastic tumor (qualifier value) disease_ontology DOID:4085 trophoblastic neoplasm A germ cell and embryonal cancer that derives_from trophoblastic tissue. url:http://en.wikipedia.org/wiki/Trophoblastic_neoplasm Trophoblastic neoplasm (morphologic abnormality) SNOMEDCT_2005_07_31:115234004 Trophoblastic neoplasm (morphologic abnormality) SNOMEDCT_2005_07_31:189855009 Trophoblastic neoplasm NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189858006 Trophoblastic tumor NCI2004_11_17:C3422 Trophoblastic tumor (qualifier value) SNOMEDCT_2005_07_31:134334000 NCI:C9313 UMLS_CUI:C1336724 disease_ontology DOID:4086 testicular germ cell tumor non-seminomatous NCI:C39915 UMLS_CUI:C1514608 disease_ontology DOID:4087 testicular pure germ cell tumor A Coronaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Torovirus, which is transmitted_by ingestion of food contaminated with feces. disease_ontology DOID:4088 Torovirus infectious disease true A Coronaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Torovirus, which is transmitted_by ingestion of food contaminated with feces. url:http://www.expasy.org/viralzone/all_by_species/127.html DOID:2164 DOID:2165 DOID:46 ICD10CM:K70-K77 ICD10CM:K76.9 ICD9CM:573.9 MESH:D008107 NCI:C3196 SNOMEDCT_US_2016_03_01:155807008 SNOMEDCT_US_2016_03_01:155817003 SNOMEDCT_US_2016_03_01:155822003 SNOMEDCT_US_2016_03_01:197375001 SNOMEDCT_US_2016_03_01:197551000 SNOMEDCT_US_2016_03_01:235856003 SNOMEDCT_US_2016_03_01:266535008 SNOMEDCT_US_2016_03_01:62857009 UMLS_CUI:C0023895 disorder of liver (disorder) hepatic disorder disease_ontology DOID:409 liver disease disorder of liver (disorder) SNOMEDCT_2005_07_31:235856003 hepatic disorder NCI2004_11_17:C3196 A communication disorder that is a loss of ability to recognize objects, persons, sounds, shapes, or smells while the specific sense is not defective nor is there any significant memory loss. DOID:4019 ICD10CM:R48.1 ICD10CM:R48.2 MESH:D000377 MESH:D001072 NCI:C84542 SNOMEDCT_US_2016_03_01:158320000 SNOMEDCT_US_2016_03_01:158322008 SNOMEDCT_US_2016_03_01:192146008 SNOMEDCT_US_2016_03_01:206989009 SNOMEDCT_US_2016_03_01:206991001 SNOMEDCT_US_2016_03_01:250058008 SNOMEDCT_US_2016_03_01:271724003 SNOMEDCT_US_2016_03_01:42341009 SNOMEDCT_US_2016_03_01:68345001 SNOMEDCT_US_2016_03_01:6950007 UMLS_CUI:C0001816 UMLS_CUI:C0003635 Dyspraxia (finding) Dyspraxia syndrome disease_ontology DOID:4090 agnosia A communication disorder that is a loss of ability to recognize objects, persons, sounds, shapes, or smells while the specific sense is not defective nor is there any significant memory loss. url:http://en.wikipedia.org/wiki/Agnosia Dyspraxia (finding) SNOMEDCT_2005_07_31:6950007 Dyspraxia syndrome MTHICD9_2006:315.4 SNOMEDCT_2005_07_31:192146008 A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Caliciviridae viruses. disease_ontology DOID:4091 Caliciviridae infectious disease true A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Caliciviridae viruses. url:http://en.wikipedia.org/wiki/Caliciviridae A viral infectious disease that results_in_formation_of vesicles located_in epithelium of the snout, lips, nostrils, tongue, feet and mammary glands of swine, has_material_basis_in Vesicular exanthema of swine virus, which is transmitted_by direct contact. VES disease_ontology DOID:4092 vesicular exanthema of swine true A viral infectious disease that results_in_formation_of vesicles located_in epithelium of the snout, lips, nostrils, tongue, feet and mammary glands of swine, has_material_basis_in Vesicular exanthema of swine virus, which is transmitted_by direct contact. url:http://www.merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/54600.htm VES SNOMEDCT_2005_07_31:17811000 metastatic squamous cell carcinoma metastatic squamous cell carcinoma (disorder) squamous cell carcinoma, metastatic (morphologic abnormality) squamous cell carcinoma, metastatic NOS (morphologic abnormality) disease_ontology DOID:4099 metastatic squamous cell carcinoma true metastatic squamous cell carcinoma NCI2004_11_17:C4104 metastatic squamous cell carcinoma (disorder) SNOMEDCT_2005_07_31:403906006 squamous cell carcinoma, metastatic (morphologic abnormality) SNOMEDCT_2005_07_31:64204000 squamous cell carcinoma, metastatic NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189567004 Tuberculous Ascites Tuberculous ascites (disorder) disease_ontology DOID:410 tuberculous ascites true Tuberculous Ascites NCI2004_11_17:C27076 Tuberculous ascites (disorder) SNOMEDCT_2005_07_31:4501007 secondary carcinoma secondary carcinoma NOS (disorder) disease_ontology DOID:4102 secondary carcinoma true secondary carcinoma SNOMEDCT_2005_07_31:79282002 secondary carcinoma NOS (disorder) SNOMEDCT_2005_07_31:287689004 A viral infectious disease that results_in infection in cattle, has_material_basis_in Rinderpest virus, which is transmitted_by direct contact with an infected animal, or transmitted_by ingestion of contaminated water. The infection has_symptom fever, has_symptom nasal and eye discharge, and results_in_formation_of erosions in the mouth, the lining of the nose and the genital tract. cattle plague steppe murrain disease_ontology DOID:4104 rinderpest true A viral infectious disease that results_in infection in cattle, has_material_basis_in Rinderpest virus, which is transmitted_by direct contact with an infected animal, or transmitted_by ingestion of contaminated water. The infection has_symptom fever, has_symptom nasal and eye discharge, and results_in_formation_of erosions in the mouth, the lining of the nose and the genital tract. url:http://en.wikipedia.org/wiki/Rinderpest A viral infectious disease that results_in infection located_in respiratory system, located_in gastrointestinal system, and located_in nervous system of dogs, foxes, wolves, coyotes, raccoons, skunks, and ferrets, has_material_basis_in Canine distemper virus, which is transmitted_by droplet spread of respiratory secretions from an infected animal. The infection has_symptom fever, has_symptom nasal discharge, has_symptom coughing, has_symptom vomiting, has_symptom diarrhea, has_symptom seizures, and has_symptom twitching. disease_ontology DOID:4105 canine distemper true A viral infectious disease that results_in infection located_in respiratory system, located_in gastrointestinal system, and located_in nervous system of dogs, foxes, wolves, coyotes, raccoons, skunks, and ferrets, has_material_basis_in Canine distemper virus, which is transmitted_by droplet spread of respiratory secretions from an infected animal. The infection has_symptom fever, has_symptom nasal discharge, has_symptom coughing, has_symptom vomiting, has_symptom diarrhea, has_symptom seizures, and has_symptom twitching. url:http://www.avma.org/animal_health/brochures/canine_distemper/distemper_brochure.asp disease_ontology DOID:4106 commensal Bacteroidaceae infectious disease true disease_ontology DOID:4107 primary Flavobacteriaceae infectious disease true A parasitic ectoparasitic infectious disease that involves parasitic infestation of blood feeding ticks of the families Ixodidae and Argasidae on animals and humans. Ticks are vectors of a number diseases, including Lyme disease, Q fever, Colorado tick fever, tularemia, tick-borne relapsing fever, babesiosis, ehrlichiosis and tick-borne meningoencephalitis, as well as anaplasmosis in cattle and canine jaundice. MESH:D013984 UMLS_CUI:C0040196 disease_ontology DOID:4109 tick infestation A parasitic ectoparasitic infectious disease that involves parasitic infestation of blood feeding ticks of the families Ixodidae and Argasidae on animals and humans. Ticks are vectors of a number diseases, including Lyme disease, Q fever, Colorado tick fever, tularemia, tick-borne relapsing fever, babesiosis, ehrlichiosis and tick-borne meningoencephalitis, as well as anaplasmosis in cattle and canine jaundice. url:http://en.wikipedia.org/wiki/Tick url:http://www.dpd.cdc.gov/dpdx/HTML/Ticks.htm Bovine tuberculosis (disorder) Infection due to Mycobacterium bovis (disorder) disease_ontology DOID:411 bovine tuberculosis true Bovine tuberculosis (disorder) SNOMEDCT_2005_07_31:61888006 Infection due to Mycobacterium bovis (disorder) SNOMEDCT_2005_07_31:373437006 A parasitic infectious disease that is caused by organisms that live primarily on the surface of the host. MESH:D004478 UMLS_CUI:C0013578 ectoparasitism disease_ontology DOID:4110 parasitic ectoparasitic infectious disease A parasitic infectious disease that is caused by organisms that live primarily on the surface of the host. url:http://en.wikipedia.org/wiki/Ectoparasitic_infestation ectoparasitism CSP2005:2214-2667 A cervical carcinosarcoma that is located_in the cervix. NCI:C40229 UMLS_CUI:C1516426 cervical Muellerian adenosarcoma cervical Mullerian adenosarcoma disease_ontology DOID:4111 cervical adenosarcoma A cervical carcinosarcoma that is located_in the cervix. url:http://dx.doi.org/10.1016/j.ygyno.2006.12.029 DOID:4431 DOID:6173 NCI:C36097 NCI:C40226 NCI:C40228 UMLS_CUI:C1332917 UMLS_CUI:C1516420 UMLS_CUI:C1518168 cervical malignant mixed Mullerian tumor cervical malignant mixed mesodermal mullerian tumor cervical mixed epithelial and mesenchymal neoplasm disease_ontology DOID:4112 cervical carcinosarcoma An adenosarcoma and malignant uterine body mixed neoplasm that derives_from the glands that line the uterus. NCI:C6336 UMLS_CUI:C1336917 uterine Corpus mullerian adenosarcoma disease_ontology adenosarcoma of uterine corpus DOID:4113 uterine corpus adenosarcoma An adenosarcoma and malignant uterine body mixed neoplasm that derives_from the glands that line the uterus. url:http://www.wrongdiagnosis.com/a/adenosarcoma_of_the_uterus/intro.htm uterine Corpus mullerian adenosarcoma NCI2004_11_17:C6336 A uterine corpus cancer that has_material_basis_in more than one type of cell. NCI:C6311 UMLS_CUI:C1334628 malignant mixed tumor of Corpus Uteri disease_ontology DOID:4114 uterine body mixed cancer A uterine corpus cancer that has_material_basis_in more than one type of cell. url:http://en.wikipedia.org/wiki/Uterine_cancer malignant mixed tumor of Corpus Uteri NCI2004_11_17:C6311 An adenosarcoma and malignant ovarian endometroid tumorthat is located_in the ovary. NCI:C7317 UMLS_CUI:C1335169 Ovarian mullerian Adenosarcoma disease_ontology DOID:4115 ovarian mesodermal adenosarcoma An adenosarcoma and malignant ovarian endometroid tumorthat is located_in the ovary. url:http://www.google.com/search?q=ovarian+mesodermal+adenosarcoma&ie=utf-8&oe=utf-8&aq=t&rls=org.mozilla:en-US:official&client=firefox-a Ovarian mullerian Adenosarcoma NCI2004_11_17:C7317 A vaginal carcinosarcoma derives_from the glands that line the uterus. NCI:C40277 UMLS_CUI:C1519914 disease_ontology DOID:4117 vaginal adenosarcoma A vaginal carcinosarcoma derives_from the glands that line the uterus. url:http://www.wrongdiagnosis.com/medical/mullerian_adenosarcoma_of_the_uterus.htm NCI:C5697 UMLS_CUI:C1333097 Colonic neuroendocrine tumor disease_ontology DOID:4118 colon neuroendocrine neoplasm Colonic neuroendocrine tumor NCI2004_11_17:C5697 NCI:C5695 UMLS_CUI:C1334231 neuroendocrine tumor of Intestine disease_ontology DOID:4119 intestinal neuroendocrine benign tumor neuroendocrine tumor of Intestine NCI2004_11_17:C5695 Atypical mycobacterium infection NOS Infection due to mycobacterium, non-TB Mycobacterial infection (excluding tuberculosis AND leprosy) (disorder) Mycobacterial infection, NOS (excluding tuberculosis and leprosy) disease_ontology DOID:412 atypical Mycobacterium infectious disease true Atypical mycobacterium infection NOS MTHICD9_2006:031.9 Infection due to mycobacterium, non-TB SNOMEDCT_2005_07_31:111812000 Infection due to mycobacterium, non-TB SNOMEDCT_2005_07_31:373087006 Mycobacterial infection (excluding tuberculosis AND leprosy) (disorder) SNOMEDCT_2005_07_31:111811007 Mycobacterial infection, NOS (excluding tuberculosis and leprosy) SNOMEDCT_2005_07_31:88415009 A Flavivirus infectious disease that results_in infection in animals and humans, has_material_basis_in West Nile virus, which is transmitted_by Culex mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom nausea, has_symptom vomiting, has_symptom swollen lymph glands, or has_symptom skin rash on the chest, stomach and back. disease_ontology DOID:4121 West Nile virus infectious disease true A Flavivirus infectious disease that results_in infection in animals and humans, has_material_basis_in West Nile virus, which is transmitted_by Culex mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom nausea, has_symptom vomiting, has_symptom swollen lymph glands, or has_symptom skin rash on the chest, stomach and back. url:http://en.wikipedia.org/wiki/West_Nile_virus url:http://www.cdc.gov/ncidod/dvbid/westnile/wnv_factsheet.htm An integumentary system disease that is located_in nail. ICD10CM:L60 ICD10CM:L60.9 ICD9CM:703 ICD9CM:703.9 MESH:D009260 SNOMEDCT_US_2016_03_01:156401005 SNOMEDCT_US_2016_03_01:17790008 SNOMEDCT_US_2016_03_01:201127007 SNOMEDCT_US_2016_03_01:267861009 UMLS_CUI:C0027339 disease_ontology DOID:4123 nail disease An integumentary system disease that is located_in nail. url:http://en.wikipedia.org/wiki/Nail_disease A tuberculosis that is a chronic and progressive wasting and weakness caused by infection of companion, captive exotic, wild and domestic birds with Mycobacterium avium complex (serotypes 1, 2 and 3) and M. genavense. Avian tuberculosis (disorder) Infection due to Mycobacterium avium (disorder) disease_ontology DOID:413 avian tuberculosis true A tuberculosis that is a chronic and progressive wasting and weakness caused by infection of companion, captive exotic, wild and domestic birds with Mycobacterium avium complex (serotypes 1, 2 and 3) and M. genavense. url:http://www.oie.int/fr/normes/mmanual/2008/pdf/2.03.06_AVIAN_TB.pdf Avian tuberculosis (disorder) SNOMEDCT_2005_07_31:371684009 Avian tuberculosis (disorder) SNOMEDCT_2005_07_31:55356004 Infection due to Mycobacterium avium (disorder) SNOMEDCT_2005_07_31:371685005 ICD10CM:L08.1 MESH:D004894 SNOMEDCT_US_2016_03_01:111797001 SNOMEDCT_US_2016_03_01:154314007 SNOMEDCT_US_2016_03_01:186393009 SNOMEDCT_US_2016_03_01:200726000 SNOMEDCT_US_2016_03_01:238418005 SNOMEDCT_US_2016_03_01:266185008 UMLS_CUI:C0014752 Infection due to Corynebacterium minutissimum disease_ontology DOID:4131 erythrasma Infection due to Corynebacterium minutissimum SNOMEDCT_2005_07_31:264207005 MESH:D009236 NCI:C3255 SNOMEDCT_US_2016_03_01:28351005 UMLS_CUI:C0027155 Myxosarcoma (morphologic abnormality) disease_ontology DOID:4136 myxosarcoma Myxosarcoma (morphologic abnormality) SNOMEDCT_2005_07_31:28351005 MESH:D003137 UMLS_CUI:C0009440 disease_ontology DOID:4137 common bile duct disease MESH:D001649 NCI:C96716 SNOMEDCT_US_2016_03_01:118926004 SNOMEDCT_US_2016_03_01:197455006 UMLS_CUI:C0005395 bile duct disorder NOS (disorder) disorder of bile duct (disorder) disease_ontology DOID:4138 bile duct disease bile duct disorder NOS (disorder) SNOMEDCT_2005_07_31:197455006 disorder of bile duct (disorder) SNOMEDCT_2005_07_31:118926004 disease_ontology DOID:414 cardiovascular tuberculosis true A gallbladder disease characterized by altered tonus of the sphincter of Oddi, disturbance in the coordination of contraction of the biliary ducts, and/or reduction in the speed of emptying of the biliary tree. DOID:4139 HP:0012396 MESH:D001657 SNOMEDCT_US_2016_03_01:197432008 SNOMEDCT_US_2016_03_01:43469007 UMLS_CUI:C0005416 sphincter of oddi dysfunction disease_ontology DOID:4140 biliary dyskinesia A gallbladder disease characterized by altered tonus of the sphincter of Oddi, disturbance in the coordination of contraction of the biliary ducts, and/or reduction in the speed of emptying of the biliary tree. url:http://en.wikipedia.org/wiki/Biliary_dyskinesia A meningioma by site and orbital neoplasm that is located_in the area around the eye sockets of the skull and results_in pressure in the eyes, giving a bulging appearance. MESH:D008579 NCI:C6778 UMLS_CUI:C1334261 disease_ontology DOID:4141 intraorbital meningioma A meningioma by site and orbital neoplasm that is located_in the area around the eye sockets of the skull and results_in pressure in the eyes, giving a bulging appearance. url:http://www.mayfieldclinic.com/pe-meni.htm disease_ontology DOID:4142 meningioma by site true A bone cancer that is located_in the area behind the eye and derives_from the orbit or secondarily derives_from an adjacent source (eyelid, paranasal sinus, or intracranial compartment). It results_in the eye pushing forward causing a bulging of the eye called proptosis. DOID:9984 ICD10CM:C69.6 ICD9CM:190.1 MESH:D009918 NCI:C3290 NCI:C3562 SNOMEDCT_US_2016_03_01:127003006 SNOMEDCT_US_2016_03_01:188270008 SNOMEDCT_US_2016_03_01:363462005 SNOMEDCT_US_2016_03_01:93932000 UMLS_CUI:C0029185 UMLS_CUI:C0153626 malignant neoplasm of orbit neoplasm of orbit proper (disorder) orbit cancer orbital tumor disease_ontology DOID:4143 orbital cancer A bone cancer that is located_in the area behind the eye and derives_from the orbit or secondarily derives_from an adjacent source (eyelid, paranasal sinus, or intracranial compartment). It results_in the eye pushing forward causing a bulging of the eye called proptosis. url:http://eyecancer.com/Patient/Condition.aspx?nID=19&Category=Orbital+Tumors&Condition=General+Information+About+Orbital+Tumors malignant neoplasm of orbit ICD9CM_2006:190.1 neoplasm of orbit proper (disorder) SNOMEDCT_2005_07_31:127003006 orbital tumor NCI2004_11_17:C3290 Herpes zoster dermatitis (disorder) disease_ontology DOID:4144 herpes zoster dermatitis true Herpes zoster dermatitis (disorder) SNOMEDCT_2005_07_31:400020001 NCI:C36207 UMLS_CUI:C0948101 GI adenoma disease_ontology DOID:4147 gastrointestinal adenoma NCI:C27721 UMLS_CUI:C1333799 disease_ontology DOID:4148 gastrointestinal neuroendocrine benign tumor A chordoma that is located_in the skull base. NCI:C5453 UMLS_CUI:C1335975 Chordoma of the Skull Base disease_ontology DOID:4151 skull base chordoma A chordoma that is located_in the skull base. url:http://www.bcm.edu/oto/grand/10192.html Chordoma of the Skull Base NCI2004_11_17:C5453 A chordoma that histologically derives_from chordoma, derives_from chondroma, and derives_from chondrosarcoma. NCI:C6902 SNOMEDCT_US_2016_03_01:128784007 UMLS_CUI:C1266173 Chondroid chordoma (morphologic abnormality) disease_ontology DOID:4152 chondroid chordoma A chordoma that histologically derives_from chordoma, derives_from chondroma, and derives_from chondrosarcoma. url:http://www.bcm.edu/oto/grand/10192.html Chondroid chordoma (morphologic abnormality) SNOMEDCT_2005_07_31:128784007 A chordoma that derives_from the spine. NCI:C5156 Chordoma of Spine disease_ontology DOID:4153 spinal chordoma A chordoma that derives_from the spine. url:http://www.hopkinsmedicine.org/neurology_neurosurgery/conditions_main/chordoma.html Chordoma of Spine NCI2004_11_17:C5156 ICD10CM:K00.5 MESH:D003811 NCI:C84667 OMIM:125490 OMIM:125500 SNOMEDCT_US_2016_03_01:196286005 SNOMEDCT_US_2016_03_01:367461002 SNOMEDCT_US_2016_03_01:45742009 UMLS_CUI:C0011436 disease_ontology DOID:4154 OMIM mapping confirmed by DO. [SN]. dentinogenesis imperfecta A syphilis that is the first stage of syphilis, marked by the development of a chancre, which is characterized by mononuclear leukocytic infiltration, macrophages, and lymphocytes. ICD9CM:091 SNOMEDCT_US_2016_03_01:186846005 SNOMEDCT_US_2016_03_01:57334003 UMLS_CUI:C0153139 Symptomatic early syphilis (disorder) early symptomatic syphilis early symptomatic syphilis (disorder) early syphilis, symptomatic disease_ontology DOID:4156 primary syphilis A syphilis that is the first stage of syphilis, marked by the development of a chancre, which is characterized by mononuclear leukocytic infiltration, macrophages, and lymphocytes. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=primary+syphilis Symptomatic early syphilis (disorder) SNOMEDCT_2005_07_31:57334003 early symptomatic syphilis (disorder) SNOMEDCT_2005_07_31:186846005 early syphilis, symptomatic ICD9CM_2006:091 A syphilis that is characterized as the second stage of syphilis which appears from 2 to 6 months after primary infection, and is marked by lesions especially in the skin but also in organs and tissues, and that lasts from 3 to 12 weeks. DOID:12122 ICD9CM:091.9 MESH:C536773 SNOMEDCT_US_2016_03_01:154382002 SNOMEDCT_US_2016_03_01:186865002 SNOMEDCT_US_2016_03_01:240557004 UMLS_CUI:C0149985 secondary syphilis of viscera or bone disease_ontology DOID:4157 secondary syphilis A syphilis that is characterized as the second stage of syphilis which appears from 2 to 6 months after primary infection, and is marked by lesions especially in the skin but also in organs and tissues, and that lasts from 3 to 12 weeks. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=secondary+syphilis An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells. MESH:D012878 NCI:C2920 SNOMEDCT_US_2016_03_01:188143008 SNOMEDCT_US_2016_03_01:190107001 SNOMEDCT_US_2016_03_01:363511009 SNOMEDCT_US_2016_03_01:372130007 SNOMEDCT_US_2016_03_01:94047004 UMLS_CUI:C0007114 CA - skin cancer malignant neoplasm of skin melanoma and Non-melanoma skin cancer disease_ontology cancer of skin DOID:4159 skin cancer An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells. url:http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002414/ CA - skin cancer SNOMEDCT_2005_07_31:363511009 malignant neoplasm of skin MTH:NOCODE melanoma and Non-melanoma skin cancer NCI2004_11_17:C2920 NCI:C42048 UMLS_CUI:C1511934 disease_ontology DOID:4160 differentiating neuroblastoma disease_ontology DOID:4161 relapsed neuroblastoma true MESH:D018305 NCI:C3790 SNOMEDCT_US_2016_03_01:116381000119105 SNOMEDCT_US_2016_03_01:69515008 UMLS_CUI:C0206718 Ganglioneuroblastoma (morphologic abnormality) disease_ontology DOID:4163 ganglioneuroblastoma Ganglioneuroblastoma (morphologic abnormality) SNOMEDCT_2005_07_31:69515008 NCI:C4826 SNOMEDCT_US_2016_03_01:281560004 UMLS_CUI:C0559458 neuroblastoma of Cerebrum neuroblastoma of brain (disorder) neuroblastoma of the cerebral hemisphere disease_ontology DOID:4164 cerebral neuroblastoma neuroblastoma of Cerebrum NCI2004_11_17:C4826 neuroblastoma of brain (disorder) SNOMEDCT_2005_07_31:281560004 disease_ontology DOID:4165 regional neuroblastoma true A primary bacterial infectious disease that is a sexually transmitted systemic disease, has_material_basis_in Treponema pallidum subsp pallidum, which is transmitted_by sexual contact, transmitted_by blood product transfusion, transmitted_by congenital method from mother to fetus or transmitted_by contact with infectious lesions. If left untreated, produces chancres, rashes, and systemic lesions in a clinical course with three stages continued over many years. DOID:11095 ICD10CM:A51.0 MESH:D002601 SNOMEDCT_US_2016_03_01:266127002 SNOMEDCT_US_2016_03_01:58433006 UMLS_CUI:C0007939 syphilitic chancre disease_ontology DOID:4166 syphilis A primary bacterial infectious disease that is a sexually transmitted systemic disease, has_material_basis_in Treponema pallidum subsp pallidum, which is transmitted_by sexual contact, transmitted_by blood product transfusion, transmitted_by congenital method from mother to fetus or transmitted_by contact with infectious lesions. If left untreated, produces chancres, rashes, and systemic lesions in a clinical course with three stages continued over many years. url:http://emedicine.medscape.com/article/229461-overview#a0101 url:http://en.wikipedia.org/wiki/Syphilis url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=syphilis An immune system disease that is an overactive immune response of the body against substances and tissues normally present in the body resulting from an abnormal functioning of the immune system that results in the production of antibodies or T cell directed against the host tissues. ICD9CM:720 OMIM:109100 UMLS_CUI:C0003089 autoimmune disease disease_ontology DOID:417 Xref MGI. hypersensitivity reaction type II disease An immune system disease that is an overactive immune response of the body against substances and tissues normally present in the body resulting from an abnormal functioning of the immune system that results in the production of antibodies or T cell directed against the host tissues. ls:IEDB url:http://en.wikipedia.org/wiki/Autoimmune_disease disease_ontology DOID:4170 localized resectable neuroblastoma true disease_ontology DOID:4172 localized unresectable neuroblastoma true metastatic neuroblastoma disease_ontology DOID:4173 disseminated neuroblastoma true metastatic neuroblastoma NCI2004_11_17:C6641 MESH:D012203 NCI:C113150 SNOMEDCT_US_2016_03_01:156182009 SNOMEDCT_US_2016_03_01:199580004 SNOMEDCT_US_2016_03_01:199581000 SNOMEDCT_US_2016_03_01:199584008 SNOMEDCT_US_2016_03_01:44795003 UMLS_CUI:C0035404 Rh incompatibility affecting management of mother disease_ontology DOID:4175 Rh isoimmunization Rh incompatibility affecting management of mother MTHICD9_2006:656.1 CSP:0440-3703 MESH:D001787 UMLS_CUI:C0005806 disease_ontology DOID:4176 blood group incompatibility A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies. EFO:0000717 ICD10CM:M34.0 ICD10CM:M34.9 ICD9CM:710.1 MESH:D012595 NCI:C72070 OMIM:181750 SNOMEDCT_US_2016_03_01:128457007 SNOMEDCT_US_2016_03_01:156451000 SNOMEDCT_US_2016_03_01:201440007 SNOMEDCT_US_2016_03_01:268049000 SNOMEDCT_US_2016_03_01:89155008 UMLS_CUI:C0036421 PSS (progressive systemic sclerosis) Scleroderma Scleroderma (& [systemic sclerosis]) Scleroderma syndrome progressive systemic sclerosis systemic sclerosis disease_ontology DOID:418 systemic scleroderma A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies. sn:IEDB PSS (progressive systemic sclerosis) CSP2005:4008-0097 Scleroderma SNOMEDCT_2005_07_31:201440007 Scleroderma (& [systemic sclerosis]) SNOMEDCT_2005_07_31:156451000 Scleroderma (& [systemic sclerosis]) SNOMEDCT_2005_07_31:268049000 Scleroderma syndrome SNOMEDCT_2005_07_31:128457007 Scleroderma syndrome SNOMEDCT_2005_07_31:89155008 progressive systemic sclerosis MTHICD9_2006:710.1 systemic sclerosis ICD9CM_2006:710.1 MESH:D011556 OMIM:612463 SNOMEDCT_US_2016_03_01:190867002 SNOMEDCT_US_2016_03_01:237659007 SNOMEDCT_US_2016_03_01:8084001 UMLS_CUI:C0033835 Normocalcemic pseudohypoparathyroidism (disorder) [Ambiguous] Pseudopseudohypoparathyroidism (disorder) disease_ontology DOID:4183 OMIM mapping confirmed by DO. [SN]. pseudopseudohypoparathyroidism Normocalcemic pseudohypoparathyroidism (disorder) [Ambiguous] SNOMEDCT_2005_07_31:8084001 Pseudopseudohypoparathyroidism (disorder) SNOMEDCT_2005_07_31:237659007 ICD10CM:E20.1 MESH:D011547 NCI:C99027 OMIM:603233 OMIM:612462 SNOMEDCT_US_2016_03_01:154697005 SNOMEDCT_US_2016_03_01:190867002 SNOMEDCT_US_2016_03_01:267479004 SNOMEDCT_US_2016_03_01:58976002 UMLS_CUI:C0033806 disease_ontology DOID:4184 OMIM mapping confirmed by DO. [SN]. pseudohypoparathyroidism A speech disorder that involves mispronouncing speech sounds by omitting, distorting, substituting, or adding sounds which can make speech difficult to understand. MESH:D001184 SNOMEDCT_US_2016_03_01:386701004 SNOMEDCT_US_2016_03_01:8187005 UMLS_CUI:C0003910 Articulation impairment Phonological disorder disease_ontology DOID:4186 articulation disorder A speech disorder that involves mispronouncing speech sounds by omitting, distorting, substituting, or adding sounds which can make speech difficult to understand. url:http://www.psllcnj.com/articulation_disorders.htm Articulation impairment SNOMEDCT_2005_07_31:8187005 Phonological disorder MTHICD9_2006:315.39 A speech disorder that involves the automatic repetition of vocalizations made by another person. MESH:D004454 NCI:C97166 SNOMEDCT_US_2016_03_01:64712007 UMLS_CUI:C0013528 disease_ontology DOID:4188 echolalia A speech disorder that involves the automatic repetition of vocalizations made by another person. url:http://en.wikipedia.org/wiki/Echolalia A speech disorder that involves a complete inability to speak. MESH:D009155 SNOMEDCT_US_2016_03_01:267771000 SNOMEDCT_US_2016_03_01:88052002 UMLS_CUI:C0026884 disease_ontology DOID:4189 mutism A speech disorder that involves a complete inability to speak. url:http://en.wikipedia.org/wiki/Mutism url:http://en.wikipedia.org/wiki/Speech_disorder A rheumatic disease and collagen disease that involves the abnormal growth of connective tissue, which supports the skin and internal organs. MESH:D012594 NCI:C26746 SNOMEDCT_US_2016_03_01:128457007 SNOMEDCT_US_2016_03_01:156451000 SNOMEDCT_US_2016_03_01:156454008 SNOMEDCT_US_2016_03_01:201440007 SNOMEDCT_US_2016_03_01:201441006 SNOMEDCT_US_2016_03_01:267874003 SNOMEDCT_US_2016_03_01:268049000 SNOMEDCT_US_2016_03_01:287005009 SNOMEDCT_US_2016_03_01:89155008 UMLS_CUI:C0011644 dermatosclerosis disease_ontology DOID:419 scleroderma A rheumatic disease and collagen disease that involves the abnormal growth of connective tissue, which supports the skin and internal organs. url:http://www.niams.nih.gov/Health_Info/Scleroderma/default.asp dermatosclerosis CSP2005:2716-6998 DOID:12751 ICD9CM:434.0 MESH:D020767 SNOMEDCT_US_2016_03_01:155401002 UMLS_CUI:C0079102 UMLS_CUI:C0752143 cerebral thrombosis disease_ontology DOID:4193 intracranial thrombosis MESH:D044882 NCI:C53655 SNOMEDCT_US_2016_03_01:126877002 UMLS_CUI:C1257958 disorder of glucose metabolism (disorder) disease_ontology DOID:4194 glucose metabolism disease disorder of glucose metabolism (disorder) SNOMEDCT_2005_07_31:126877002 ICD10CM:R73.9 MESH:D006943 NCI:C26797 SNOMEDCT_US_2016_03_01:144187006 SNOMEDCT_US_2016_03_01:154719004 SNOMEDCT_US_2016_03_01:207289007 SNOMEDCT_US_2016_03_01:207643008 SNOMEDCT_US_2016_03_01:237598005 SNOMEDCT_US_2016_03_01:270004003 SNOMEDCT_US_2016_03_01:315299009 SNOMEDCT_US_2016_03_01:390730002 SNOMEDCT_US_2016_03_01:80394007 UMLS_CUI:C0020456 disease_ontology DOID:4195 hyperglycemia A mononeuropathy that is characterized by a loss of movement or sensation in parts of the legs due to damage to the femoral nerve. ICD10CM:G57.2 ICD10CM:G57.20 MESH:D020428 NCI:C27595 SNOMEDCT_US_2016_03_01:193146000 SNOMEDCT_US_2016_03_01:25690000 UMLS_CUI:C0751931 Femoral nerve lesions femoral nerve dysfunction disease_ontology DOID:4196 femoral neuropathy A mononeuropathy that is characterized by a loss of movement or sensation in parts of the legs due to damage to the femoral nerve. url:https://medlineplus.gov/ency/article/000687.htm Femoral nerve lesions SNOMEDCT_2005_07_31:193146000 A hair disease characterized by hair growth that is abnormal in quantity or location. ICD10CM:L68 ICD10CM:L68.3 ICD10CM:L68.9 MESH:D006983 NCI:C79597 ORDO:79365 SNOMEDCT_US_2016_03_01:156409007 SNOMEDCT_US_2016_03_01:201164001 SNOMEDCT_US_2016_03_01:201165000 SNOMEDCT_US_2016_03_01:271607001 SNOMEDCT_US_2016_03_01:29966009 SNOMEDCT_US_2016_03_01:40090008 UMLS_CUI:C0020555 disease_ontology DOID:420 hypertrichosis A hair disease characterized by hair growth that is abnormal in quantity or location. url:https://www.ncbi.nlm.nih.gov/pubmed/18328202 disease_ontology DOID:4200 commensal Bifidobacteriales infectious disease true MESH:D020427 NCI:C27596 UMLS_CUI:C0747533 Peroneal Neuropathy disease_ontology DOID:4201 peroneal neuropathy Peroneal Neuropathy NCI2004_11_17:C27596 NCI:C8501 SNOMEDCT_US_2016_03_01:444545003 UMLS_CUI:C0677865 Brainstem Neuroglial tumor disease_ontology DOID:4202 brain stem glioma Brainstem Neuroglial tumor NCI2004_11_17:C8501 DOID:13974 DOID:4204 DOID:4208 ICD10CM:C71.7 ICD9CM:191.7 MESH:D020295 NCI:C3570 NCI:C4869 NCI:C4975 NCI:C5967 SNOMEDCT_US_2016_03_01:126961004 SNOMEDCT_US_2016_03_01:154549004 SNOMEDCT_US_2016_03_01:188299003 SNOMEDCT_US_2016_03_01:363473003 SNOMEDCT_US_2016_03_01:93726004 UMLS_CUI:C0153641 UMLS_CUI:C0677866 UMLS_CUI:C0751886 UMLS_CUI:C1332192 malignant neoplasm of brain stem malignant neoplasm of brainstem malignant neoplasm of brainstem (disorder) malignant neoplasm of brainstem NOS (disorder) malignant tumor of Brainstem neoplasm of adult brain stem neoplasm of brain stem (disorder) primary brain Stem tumor primary brain stem neoplasm tumor of adult Brainstem tumor of the Brainstem disease_ontology DOID:4203 brain stem cancer malignant neoplasm of brainstem SNOMEDCT_2005_07_31:154549004 malignant neoplasm of brainstem (disorder) SNOMEDCT_2005_07_31:363473003 malignant neoplasm of brainstem NOS (disorder) SNOMEDCT_2005_07_31:188299003 malignant tumor of Brainstem NCI2004_11_17:C3570 neoplasm of brain stem (disorder) SNOMEDCT_2005_07_31:126961004 primary brain Stem tumor NCI2004_11_17:C4975 tumor of adult Brainstem NCI2004_11_17:C5967 tumor of the Brainstem NCI2004_11_17:C4869 DOID:12786 ICD10CM:C71.6 ICD9CM:191.6 MESH:D002528 NCI:C2935 NCI:C3569 SNOMEDCT_US_2016_03_01:126960003 SNOMEDCT_US_2016_03_01:154548007 SNOMEDCT_US_2016_03_01:363472008 SNOMEDCT_US_2016_03_01:449420002 UMLS_CUI:C0007762 UMLS_CUI:C0153640 cerebellar cancer malignant tumor of Cerebellum disease_ontology DOID:4205 cerebellum cancer malignant tumor of Cerebellum NCI2004_11_17:C3569 NCI:C5969 UMLS_CUI:C1332951 pediatric tumor of Brainstem disease_ontology DOID:4206 childhood brain stem neoplasm pediatric tumor of Brainstem NCI2004_11_17:C5969 NCI:C5802 UMLS_CUI:C1332973 pediatric Infratentorial tumor disease_ontology DOID:4207 childhood infratentorial neoplasm pediatric Infratentorial tumor NCI2004_11_17:C5802 NCI:C5295 UMLS_CUI:C1332612 Intraparenchymal Clear cell meningioma of the Brainstem disease_ontology DOID:4209 brainstem intraparenchymal clear cell meningioma Intraparenchymal Clear cell meningioma of the Brainstem NCI2004_11_17:C5295 An integumentary system disease that is located_in hair. MESH:D006201 NCI:C34656 SNOMEDCT_US_2016_03_01:156407009 SNOMEDCT_US_2016_03_01:267862002 SNOMEDCT_US_2016_03_01:279425004 UMLS_CUI:C0018500 disease_ontology DOID:421 hair disease An integumentary system disease that is located_in hair. url:http://en.wikipedia.org/wiki/Hair_disease MESH:D008579 NCI:C4722 SNOMEDCT_US_2016_03_01:134213009 SNOMEDCT_US_2016_03_01:57606003 UMLS_CUI:C0431121 Clear cell meningioma Clear cell meningioma (morphologic abnormality) disease_ontology DOID:4210 clear cell meningioma Clear cell meningioma SNOMEDCT_2005_07_31:134213009 Clear cell meningioma (morphologic abnormality) SNOMEDCT_2005_07_31:57606003 NCI:C6775 UMLS_CUI:C1335448 meningioma of the Posterior Cranial Fossa disease_ontology DOID:4211 posterior cranial fossa meningioma meningioma of the Posterior Cranial Fossa NCI2004_11_17:C6775 A malignant ovarian surface epithelial-stromal neoplasm that has_material_basis_in the surface epithelium of the ovary. MESH:D001948 NCI:C4270 SNOMEDCT_US_2016_03_01:42194009 UMLS_CUI:C0334495 disease_ontology DOID:4217 malignant ovarian Brenner tumor A malignant ovarian surface epithelial-stromal neoplasm that has_material_basis_in the surface epithelium of the ovary. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C40026 MESH:D020914 NCI:C84648 UMLS_CUI:C0752282 disease_ontology DOID:422 congenital structural myopathy Pyoderma is a skin infectious disease where the infection is pyogenic causing the formation of pus. ICD10CM:L08.0 ICD9CM:686.0 ICD9CM:686.00 MESH:D011711 SNOMEDCT_US_2016_03_01:156323008 SNOMEDCT_US_2016_03_01:200719000 SNOMEDCT_US_2016_03_01:267838007 SNOMEDCT_US_2016_03_01:70759006 UMLS_CUI:C0034212 disease_ontology DOID:4223 pyoderma Pyoderma is a skin infectious disease where the infection is pyogenic causing the formation of pus. url:http://en.wikipedia.org/wiki/Pyoderma url:http://en.wikipedia.org/wiki/Pyogenic A sarcoma that affects adults and is located_in the muscle, located_in fat, located_in fibrous tissue, located_in blood vessels, or located_in other supporting tissue of the body. adult sarcoma of the soft tissue disease_ontology DOID:4224 adult soft tissue sarcoma true A sarcoma that affects adults and is located_in the muscle, located_in fat, located_in fibrous tissue, located_in blood vessels, or located_in other supporting tissue of the body. url:http://www.cancer.gov/cancertopics/types/soft-tissue-sarcoma adult sarcoma of the soft tissue NCI2004_11_17:C7707 MESH:D018203 NCI:C8973 SNOMEDCT_US_2016_03_01:699356008 SNOMEDCT_US_2016_03_01:70555003 UMLS_CUI:C0206630 ESS Undifferentiated endometrial sarcoma endometrial stromal sarcoma, high grade disease_ontology DOID:4226 endometrial stromal sarcoma ESS NCI2004_11_17:C8973 Undifferentiated endometrial sarcoma NCI2004_11_17:C8972 endometrial stromal sarcoma, high grade SNOMEDCT_2005_07_31:70555003 DOID:1374 NCI:C40217 NCI:C40219 UMLS_CUI:C1519848 UMLS_CUI:C1519849 uterine corpus endometrial stromal tumor disease_ontology DOID:4227 uterine corpus endometrial stromal sarcoma Stromal sarcoma Stromal sarcoma (morphologic abnormality) disease_ontology DOID:4228 stromal sarcoma true Stromal sarcoma NCI2004_11_17:C6926 Stromal sarcoma (morphologic abnormality) SNOMEDCT_2005_07_31:128753005 A muscular disease in which the muscle fibers do not function resulting in muscular weakness. ICD10CM:G72.9 ICD10CM:M60-M63 ICD10CM:M62.9 ICD9CM:359.9 MESH:D009135 NCI:C101216 SNOMEDCT_US_2016_03_01:129565002 SNOMEDCT_US_2016_03_01:155094005 SNOMEDCT_US_2016_03_01:155099000 SNOMEDCT_US_2016_03_01:203833006 SNOMEDCT_US_2016_03_01:203845002 SNOMEDCT_US_2016_03_01:267711006 SNOMEDCT_US_2016_03_01:267714003 SNOMEDCT_US_2016_03_01:268103006 SNOMEDCT_US_2016_03_01:52794005 SNOMEDCT_US_2016_03_01:75047002 UMLS_CUI:C0026848 disease_ontology DOID:423 myopathy A muscular disease in which the muscle fibers do not function resulting in muscular weakness. url:http://en.wikipedia.org/wiki/Myopathy NCI:C6511 UMLS_CUI:C1334620 malignant tumor of Smooth Muscle disease_ontology DOID:4230 smooth muscle cancer malignant tumor of Smooth Muscle NCI2004_11_17:C6511 MESH:D051642 NCI:C35765 SNOMEDCT_US_2016_03_01:128741006 SNOMEDCT_US_2016_03_01:154614002 SNOMEDCT_US_2016_03_01:189773000 SNOMEDCT_US_2016_03_01:302843004 SNOMEDCT_US_2016_03_01:72079004 UMLS_CUI:C1509147 disease_ontology DOID:4231 histiocytoma NCI:C27293 UMLS_CUI:C1333514 extraosseous Ewing sarcoma extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumor disease_ontology DOID:4232 extraosseous Ewing's sarcoma A sarcoma that is characterized by solid nests and fascicles of tumor cells with clear cytoplasm and prominent nucleoli. It presents as a slow growing mass that especially affects tendons and aponeuroses and it is deeply situated. DOID:4881 MESH:D018227 NCI:C27370 NCI:C3745 SNOMEDCT_US_2016_03_01:12622007 SNOMEDCT_US_2016_03_01:271944004 SNOMEDCT_US_2016_03_01:402561003 UMLS_CUI:C0206651 UMLS_CUI:C1332198 Clear cell sarcoma (morphologic abnormality) Clear cell sarcoma of soft Parts adult soft part clear cell sarcoma malignant melanoma of soft tissues (disorder) melanoma, malignant, of soft parts disease_ontology malignant melanoma of soft parts DOID:4233 clear cell sarcoma A sarcoma that is characterized by solid nests and fascicles of tumor cells with clear cytoplasm and prominent nucleoli. It presents as a slow growing mass that especially affects tendons and aponeuroses and it is deeply situated. url:http://en.wikipedia.org/wiki/Clear-cell_sarcoma Clear cell sarcoma (morphologic abnormality) SNOMEDCT_2005_07_31:271944004 Clear cell sarcoma of soft Parts NCI2004_11_17:C3745 malignant melanoma of soft tissues (disorder) SNOMEDCT_2005_07_31:402561003 melanoma, malignant, of soft parts SNOMEDCT_2005_07_31:12622007 A sarcoma that results_in cells that are spindle-shaped. They are usually resistant to radiation therapy. MESH:D012509 NCI:C27005 SNOMEDCT_US_2016_03_01:9801004 UMLS_CUI:C0205945 disease_ontology DOID:4235 spindle cell sarcoma A sarcoma that results_in cells that are spindle-shaped. They are usually resistant to radiation therapy. url:http://medical-dictionary.thefreedictionary.com/spindle+cell+sarcoma A mixed cell type cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components. DOID:1971 DOID:2610 DOID:4234 MESH:D002296 MESH:D018199 MESH:D018200 NCI:C34448 NCI:C3730 NCI:C8975 SNOMEDCT_US_2016_03_01:112684005 SNOMEDCT_US_2016_03_01:189808004 SNOMEDCT_US_2016_03_01:63264007 SNOMEDCT_US_2016_03_01:84427001 UMLS_CUI:C0007140 UMLS_CUI:C0206627 UMLS_CUI:C1334603 MMMT Mesodermal mixed tumor (morphologic abnormality) malignant mixed Mullerian tumor malignant mixed mesodermal (mullerian) tumor mesodermal mixed tumor mixed Mesodermal (mullerian) tumor mullerian mixed tumor mullerian mixed tumor (morphologic abnormality) disease_ontology DOID:4236 carcinosarcoma A mixed cell type cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components. url:http://en.wikipedia.org/wiki/Mixed_M%C3%BCllerian_tumor url:http://www.cancer.gov/Common/PopUps/popDefinition.aspx?id=44003&version=Patient&language=English url:http://www.cancer.gov/dictionary/?CdrID=44003 MMMT NCI2004_11_17:C8975 Mesodermal mixed tumor (morphologic abnormality) SNOMEDCT_2005_07_31:112684005 mixed Mesodermal (mullerian) tumor NCI2004_11_17:C3730 mullerian mixed tumor (morphologic abnormality) SNOMEDCT_2005_07_31:84427001 malignant soft tissue tumor of CNS disease_ontology DOID:4238 malignant soft tissue neoplasm of central nervous system true malignant soft tissue tumor of CNS NCI2004_11_17:C6758 A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults. DOID:5315 DOID:5318 MESH:D018234 NCI:C3750 NCI:C7943 NCI:C8092 OMIM:606243 SNOMEDCT_US_2016_03_01:302839003 SNOMEDCT_US_2016_03_01:404056007 SNOMEDCT_US_2016_03_01:88195001 UMLS_CUI:C0206657 UMLS_CUI:C0279544 UMLS_CUI:C0279985 Alveolar Soft Part sarcoma adult alveolar soft part sarcoma childhood alveolar soft part sarcoma pediatric Alveolar soft Part sarcoma disease_ontology DOID:4239 OMIM mapping confirmed by DO. [SN]. alveolar soft part sarcoma A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults. url:http://en.wikipedia.org/wiki/Alveolar_soft_part_sarcoma Alveolar Soft Part sarcoma NCI2004_11_17:C3750 pediatric Alveolar soft Part sarcoma NCI2004_11_17:C8092 ICD10CM:P28.0 ICD9CM:770.4 SNOMEDCT_US_2016_03_01:123275009 SNOMEDCT_US_2016_03_01:42908004 UMLS_CUI:C0270163 primary atelectasis of newborn primary atelectasis, in perinatal period disease_ontology DOID:424 pulmonary immaturity primary atelectasis of newborn ICD9CM_2006:770.4 primary atelectasis, in perinatal period SNOMEDCT_2005_07_31:42908004 disease_ontology DOID:4240 malignant miscellaneous mesenchymal tumor true A kidney cancer that is located_in the kidney's connective tissue. NCI:C4525 SNOMEDCT_US_2016_03_01:254918001 UMLS_CUI:C0346251 renal sarcoma sarcoma of kidney (disorder) disease_ontology DOID:4242 kidney sarcoma A kidney cancer that is located_in the kidney's connective tissue. url:http://www.cancer.org/docroot/CRI/content/CRI_2_4_1X_What_is_kidney_cancer_22.asp renal sarcoma NCI2004_11_17:C4525 sarcoma of kidney (disorder) SNOMEDCT_2005_07_31:254918001 disease_ontology DOID:4245 extraskeletal cartilaginous and osseous tumor true malignant soft tissue tumor of mediastinum disease_ontology DOID:4246 malignant mediastinal mesenchymal tumor true malignant soft tissue tumor of mediastinum NCI2004_11_17:C6642 MESH:D023903 UMLS_CUI:C0948480 disease_ontology DOID:4247 coronary restenosis MESH:D023921 NCI:C80427 SNOMEDCT_US_2016_03_01:233970002 UMLS_CUI:C0242231 Coronary artery stenosis (disorder) disease_ontology DOID:4248 coronary stenosis Coronary artery stenosis (disorder) SNOMEDCT_2005_07_31:233970002 A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain. ICD10CM:A81.82 ICD9CM:046.71 MESH:D016098 NCI:C84727 OMIM:137440 SNOMEDCT_US_2016_03_01:67155006 UMLS_CUI:C0017495 Gerstmann-Straussler-Scheinker disease PRION DEMENTIA disease_ontology DOID:4249 OMIM mapping confirmed by DO. [SN]. Gerstmann-Straussler-Scheinker syndrome A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain. url:http://en.wikipedia.org/wiki/Gerstmann-Str%C3%A4ussler-Scheinker_syndrome url:http://en.wikipedia.org/wiki/Gerstmann-straussler-scheinker_disease url:http://www.cdc.gov/ncidod/dvrd/prions/ disease_ontology DOID:425 certain conditions originating in the perinatal period true ICD10CM:H11.82 ICD9CM:372.81 SNOMEDCT_US_2016_03_01:408663001 UMLS_CUI:C0878693 disease_ontology DOID:4250 conjunctivochalasis ICD10CM:H10-H11 ICD10CM:H11.9 ICD9CM:372 ICD9CM:372.9 MESH:D003229 NCI:C27605 SNOMEDCT_US_2016_03_01:155161009 SNOMEDCT_US_2016_03_01:155169006 SNOMEDCT_US_2016_03_01:193906005 SNOMEDCT_US_2016_03_01:194583004 SNOMEDCT_US_2016_03_01:267735001 SNOMEDCT_US_2016_03_01:59698003 UMLS_CUI:C0009759 disease_ontology DOID:4251 conjunctival disease A leukodystrophy that is characterized by the destruction of white matter and the formation of Rosenthal fibers consisting of abnormal clumps of protein that accumulate in astrocytes. MESH:D038261 NCI:C84545 OMIM:203450 SNOMEDCT_US_2016_03_01:81854007 UMLS_CUI:C0270726 Alexander's disease disease_ontology DOID:4252 OMIM mapping confirmed by DO. [SN]. Alexander disease A leukodystrophy that is characterized by the destruction of white matter and the formation of Rosenthal fibers consisting of abnormal clumps of protein that accumulate in astrocytes. url:http://en.wikipedia.org/wiki/Alexander_disease url:http://www.ninds.nih.gov/disorders/alexander_disease/alexander_disease.htm url:http://www.omim.org/entry/203450 url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/56/viewAbstract Alexander's disease CSP2005:1849-5479 An osteosclerosis that has_material_basis_in a mutation of the LEMD3 gene which results_in a hyperdense bony cortex. MESH:D008557 NCI:C84887 OMIM:155950 SNOMEDCT_US_2016_03_01:240173003 SNOMEDCT_US_2016_03_01:44697002 UMLS_CUI:C0025239 disease_ontology DOID:4253 OMIM mapping confirmed by DO. [SN]. melorheostosis An osteosclerosis that has_material_basis_in a mutation of the LEMD3 gene which results_in a hyperdense bony cortex. url:http://en.wikipedia.org/wiki/Melorheostosis url:http://www.melorheostosis.com/ url:http://www.orthopaedia.com/display/Main/Melorheostosis A bone remodeling disease that results_in abnormal elevated bone density or mass. ICD10CM:Q78.2 MESH:D010026 NCI:C41236 SNOMEDCT_US_2016_03_01:49347007 UMLS_CUI:C0029464 disease_ontology DOID:4254 osteosclerosis A bone remodeling disease that results_in abnormal elevated bone density or mass. url:http://en.wikipedia.org/wiki/Osteosclerosis url:http://medical-dictionary.thefreedictionary.com/osteosclerosis url:http://www.medcyclopaedia.com/library/topics/volume_iii_1/o/osteosclerosis.aspx disease_ontology DOID:4256 rheumatism true A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has_symptom soft-tissue swelling, has_symptom bone lesions, and has_symptom irritability. ICD10CM:M89.8 MESH:D006958 NCI:C118423 NCI:C84645 OMIM:114000 SNOMEDCT_US_2016_03_01:123258003 SNOMEDCT_US_2016_03_01:24752008 UMLS_CUI:C0020497 cortical congenital hyperostosis infantile cortical hyperostosis disease_ontology DOID:4257 OMIM mapping confirmed by DO. [SN]. Caffey disease A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has_symptom soft-tissue swelling, has_symptom bone lesions, and has_symptom irritability. url:http://emedicine.medscape.com/article/406697-overview url:http://en.wikipedia.org/wiki/Infantile_cortical_hyperostosis url:http://www.medcyclopaedia.com/library/topics/volume_iii_1/c/caffeys_disease.aspx An osteochondrodysplasia that results_in shortened long bones and distinct facial abnormalities. ICD10CM:Q87.0 MESH:D010855 NCI:C85010 OMIM:261800 SNOMEDCT_US_2016_03_01:156908005 SNOMEDCT_US_2016_03_01:268313009 SNOMEDCT_US_2016_03_01:4602007 UMLS_CUI:C0031900 Piere-Robin syndrome Pierre Robin Malformation disease_ontology DOID:4258 Weissenbacher-Zweymüller syndrome An osteochondrodysplasia that results_in shortened long bones and distinct facial abnormalities. url:http://en.wikipedia.org/wiki/Weissenbacher-Zweym%C3%BCller_syndrome url:http://ghr.nlm.nih.gov/condition/weissenbacher-zweymuller-syndrome url:http://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=4351 url:http://www.healthline.com/galecontent/weissenbacher-zweymuller-syndrome-1 Piere-Robin syndrome SNOMEDCT_2005_07_31:268313009 MESH:D020235 SNOMEDCT_US_2016_03_01:30767006 UMLS_CUI:C1510417 Gait apraxia (finding) disease_ontology DOID:4260 gait apraxia Gait apraxia (finding) SNOMEDCT_2005_07_31:30767006 Drug-induced akathisia (disorder) disease_ontology DOID:4263 drug-induced akathisia true Drug-induced akathisia (disorder) SNOMEDCT_2005_07_31:230333002 MESH:D018229 NCI:C3747 SNOMEDCT_US_2016_03_01:86959002 UMLS_CUI:C0206653 Angiomyoma (morphologic abnormality) vascular leiomyoma disease_ontology DOID:4265 angiomyoma Angiomyoma (morphologic abnormality) SNOMEDCT_2005_07_31:86959002 vascular leiomyoma NCI2004_11_17:C3747 NCI:C5355 UMLS_CUI:C1334267 disease_ontology DOID:4266 intravascular angioleiomyoma A brain disease characterized by marked reduction of nearly all motor functions including facial expressions, gestures and speech output, but with some degree of alertness. MESH:D000405 SNOMEDCT_US_2016_03_01:5124002 SNOMEDCT_US_2016_03_01:53333005 UMLS_CUI:C0001889 Coma vigilans (finding) disease_ontology DOID:4267 akinetic mutism A brain disease characterized by marked reduction of nearly all motor functions including facial expressions, gestures and speech output, but with some degree of alertness. url:http://en.wikipedia.org/wiki/Akinetic_mutism url:http://www.ncbi.nlm.nih.gov/pubmed/14642361 Coma vigilans (finding) SNOMEDCT_2005_07_31:5124002 A microsporidiosis that is a zoonotic infectious disease results_in disseminated fungal infection in dogs, cats, hamsters, guinea pigs, rats, mice and humans, has_material_basis_in Encephalitozoon cuniculi, has_material_basis_in Encephalitozoon intestinalis or has_material_basis_in Encephalitozoon hellem. MESH:D016890 SNOMEDCT_US_2016_03_01:12825006 UMLS_CUI:C0085412 Infection by Encephalitozoon (disorder) disease_ontology DOID:4270 encephalitozoonosis A microsporidiosis that is a zoonotic infectious disease results_in disseminated fungal infection in dogs, cats, hamsters, guinea pigs, rats, mice and humans, has_material_basis_in Encephalitozoon cuniculi, has_material_basis_in Encephalitozoon intestinalis or has_material_basis_in Encephalitozoon hellem. url:http://jvdi.org/cgi/reprint/5/4/649.pdf url:http://www.petplace.com/dogs/encephalitozoonosis/page1.aspx Infection by Encephalitozoon (disorder) SNOMEDCT_2005_07_31:12825006 An opportunistic mycosis that results_in systemic fungal infection in immunocompromised people, has_material_basis_in Microsporidia phylum members. ICD10CM:B60.8 MESH:D016881 NCI:C84891 SNOMEDCT_US_2016_03_01:61842000 SNOMEDCT_US_2016_03_01:65883009 SNOMEDCT_US_2016_03_01:699676006 SNOMEDCT_US_2016_03_01:78142009 UMLS_CUI:C0085407 Infection by Microspora (disorder) Infection by Microsporea (disorder) Infection by Microsporida (disorder) disease_ontology DOID:4271 microsporidiosis An opportunistic mycosis that results_in systemic fungal infection in immunocompromised people, has_material_basis_in Microsporidia phylum members. url:http://www.dpd.cdc.gov/dpdx/HTML/Microsporidiosis.htm Infection by Microspora (disorder) SNOMEDCT_2005_07_31:65883009 Infection by Microsporea (disorder) SNOMEDCT_2005_07_31:78142009 Infection by Microsporida (disorder) SNOMEDCT_2005_07_31:61842000 A viral infectious disease that results_in infection in cattle, has_material_basis_in Bovine viral diarrhea virus 2, which is transmitted_by ingestion of infected food, or transmitted_by nasal secretions. The infection has_symptom low grade fever, has_symptom bloody diarrhea, and has_symptom bleeding in the eyes. disease_ontology DOID:4273 bovine hemorrhagic syndrome true A viral infectious disease that results_in infection in cattle, has_material_basis_in Bovine viral diarrhea virus 2, which is transmitted_by ingestion of infected food, or transmitted_by nasal secretions. The infection has_symptom low grade fever, has_symptom bloody diarrhea, and has_symptom bleeding in the eyes. url:http://www.vetmed.ucdavis.edu/vetext/INF-DA/INF-DA_BVDV.HTML A viral infectious disease that results_in infection in mammals, has_material_basis_in Pestivirus, which is transmitted_by contact with nasal secretions of an infected animal. The infection has_symptom diarrhea, has_symptom respiratory problems, and has_symptom bleeding disorder. disease_ontology DOID:4274 Pestivirus infectious disease true A viral infectious disease that results_in infection in mammals, has_material_basis_in Pestivirus, which is transmitted_by contact with nasal secretions of an infected animal. The infection has_symptom diarrhea, has_symptom respiratory problems, and has_symptom bleeding disorder. url:http://en.wikipedia.org/wiki/Pestivirus NCI:C39961 UMLS_CUI:C1518949 disease_ontology basal cell carcinoma of the penis DOID:4277 penis basal cell carcinoma NCI:C6386 UMLS_CUI:C1335934 Basal cell carcinoma of scrotum disease_ontology basal cell carcinoma of the scrotum DOID:4278 scrotum basal cell carcinoma Basal cell carcinoma of scrotum NCI2004_11_17:C6386 OMIM:604451 skin infundibulocystic basal cell carcinoma disease_ontology DOID:4279 Xref MGI. infundibulocystic basal cell carcinoma DOID:4296 NCI:C62282 SNOMEDCT_US_2016_03_01:128636006 SNOMEDCT_US_2016_03_01:403910009 UMLS_CUI:C1304300 Basal cell carcinoma, nodular (morphologic abnormality) Circumscribed solid basal cell carcinoma skin nodulo-ulcerative basal cell carcinoma skin solid (nodular) Basal cell carcinoma disease_ontology DOID:4280 nodular basal cell carcinoma Basal cell carcinoma, nodular (morphologic abnormality) SNOMEDCT_2005_07_31:128636006 Circumscribed solid basal cell carcinoma SNOMEDCT_2005_07_31:403910009 skin solid (nodular) Basal cell carcinoma NCI2004_11_17:C5616 Basosquamous carcinoma of skin (disorder) skin Metatypical carcinoma skin metatypical basal cell carcinoma disease_ontology DOID:4281 metatypical basal cell carcinoma Basosquamous carcinoma of skin (disorder) SNOMEDCT_2005_07_31:254702000 skin Metatypical carcinoma NCI2004_11_17:C2922 skin pigmented basal cell carcinoma disease_ontology DOID:4282 pigmented basal cell carcinoma ICD10CM:C44.510 NCI:C7473 UMLS_CUI:C1332269 Basal cell carcinoma of Perianal skin disease_ontology basal cell carcinoma of anal margin DOID:4283 anal margin basal cell carcinoma Basal cell carcinoma of Perianal skin NCI2004_11_17:C7473 An anal carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anal margin (where the canal meets the outside skin at the anus). NCI:C7472 SNOMEDCT_US_2016_03_01:255084004 UMLS_CUI:C0349534 Perianal skin carcinoma disease_ontology carcinoma of anal margin DOID:4284 anal margin carcinoma An anal carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anal margin (where the canal meets the outside skin at the anus). url:http://www.cancer.org/docroot/CRI/content/CRI_2_4_1X_What_is_anal_cancer_47.asp Perianal skin carcinoma NCI2004_11_17:C7472 disease_ontology DOID:4285 complications of pregnancy, childbirth and the puerperium true skin basosebaceous basal cell carcinoma disease_ontology DOID:4286 sebaceous basal cell carcinoma NCI:C6082 UMLS_CUI:C1333491 Basal cell carcinoma of the External ear disease_ontology basal cell carcinoma of external ear DOID:4287 external ear basal cell carcinoma Basal cell carcinoma of the External ear NCI2004_11_17:C6082 An external ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. NCI:C6081 UMLS_CUI:C1333492 carcinoma of the External ear disease_ontology carcinoma of external ear DOID:4288 external ear carcinoma An external ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma carcinoma of the External ear NCI2004_11_17:C6081 skin micronodular basal cell carcinoma disease_ontology DOID:4289 micronodular basal cell carcinoma MESH:D006175 NCI:C84743 UMLS_CUI:C0018414 disease_ontology DOID:429 gynatresia NCI:C7585 SNOMEDCT_US_2016_03_01:254728002 SNOMEDCT_US_2016_03_01:402524007 UMLS_CUI:C1304295 Basal cell carcinoma - adamantinoid (disorder) Melanotic adamantinoma of skin (disorder) skin adamantinoid basal cell epithelioma disease_ontology DOID:4290 adamantinoid basal cell epithelioma Basal cell carcinoma - adamantinoid (disorder) SNOMEDCT_2005_07_31:402524007 Melanotic adamantinoma of skin (disorder) SNOMEDCT_2005_07_31:254728002 NCI:C4109 SNOMEDCT_US_2016_03_01:254703005 SNOMEDCT_US_2016_03_01:43369006 UMLS_CUI:C0346013 Fibroepithelioma of Pinkus (disorder) Fibroepithelioma of Pinkus type Pinkus tumor disease_ontology DOID:4291 fibroepithelial basal cell carcinoma Fibroepithelioma of Pinkus (disorder) SNOMEDCT_2005_07_31:254703005 Fibroepithelioma of Pinkus type SNOMEDCT_2005_07_31:43369006 Pinkus tumor NCI2004_11_17:C4109 NCI:C27182 SNOMEDCT_US_2016_03_01:134152008 SNOMEDCT_US_2016_03_01:302821007 SNOMEDCT_US_2016_03_01:403913006 SNOMEDCT_US_2016_03_01:56665009 UMLS_CUI:C0555191 Basal cell carcinoma, morphea Cicatricial basal-cell carcinoma Morphea-type (Sclerosing) Basal cell carcinoma disease_ontology DOID:4292 morpheaform basal cell carcinoma Basal cell carcinoma, morphea SNOMEDCT_2005_07_31:56665009 Morphea-type (Sclerosing) Basal cell carcinoma NCI2004_11_17:C27182 NCI:C27536 UMLS_CUI:C1516599 skin clear cell basal cell carcinoma disease_ontology DOID:4293 clear cell basal cell carcinoma skin adenoid basal cell carcinoma disease_ontology DOID:4294 adenoid basal cell carcinoma follicular (pilar) basal cell carcinoma disease_ontology DOID:4295 follicular basal cell carcinoma ICD10CM:Q26.2 ICD10CM:Q26.8 ICD9CM:747.41 MESH:D012587 NCI:C85056 NCI:C98585 OMIM:106700 SNOMEDCT_US_2016_03_01:111323005 SNOMEDCT_US_2016_03_01:204458000 SNOMEDCT_US_2016_03_01:39905002 UMLS_CUI:C0036400 pulmonary venolobar syndrome total anomalous pulmonary venous return disease_ontology DOID:4297 scimitar syndrome disease_ontology DOID:4298 respiratory system abnormality true skin infiltrating basal cell carcinoma disease_ontology DOID:4299 infiltrative basal cell carcinoma NCI:C4108 SNOMEDCT_US_2016_03_01:61098004 UMLS_CUI:C0334256 Multifocal superficial basal cell carcinoma (morphologic abnormality) Superficial multicentric basal-cell carcinoma multicentric basal cell carcinoma disease_ontology DOID:4300 superficial basal cell carcinoma Multifocal superficial basal cell carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:61098004 NCI:C6381 UMLS_CUI:C1336977 Basal cell carcinoma of Vulva disease_ontology basal cell carcinoma of the vulva DOID:4301 vulva basal cell carcinoma Basal cell carcinoma of Vulva NCI2004_11_17:C6381 skin cystic basal cell carcinoma disease_ontology DOID:4302 cystic basal cell carcinoma NCI:C38111 UMLS_CUI:C1519182 skin sarcomatoid basal cell carcinoma disease_ontology DOID:4303 sarcomatoid basal cell carcinoma NCI:C38110 UMLS_CUI:C1519320 skin signet ring cell basal cell carcinoma disease_ontology DOID:4304 signet ring basal cell carcinoma A giant cell tumor and bone cancer and bone tissue neoplasm that results_in the presence of multinucleated giant cells (osteoclast-like cell). MESH:D018212 NCI:C121932 SNOMEDCT_US_2016_03_01:189891002 SNOMEDCT_US_2016_03_01:57500000 SNOMEDCT_US_2016_03_01:697970009 UMLS_CUI:C0206638 Giant cell neoplasm of bone Giant cell tumor of bone (morphologic abnormality) Giant cell tumor of bone NOS (morphologic abnormality) disease_ontology giant cell myeloma osteoclastoma DOID:4305 bone giant cell tumor A giant cell tumor and bone cancer and bone tissue neoplasm that results_in the presence of multinucleated giant cells (osteoclast-like cell). url:http://en.wikipedia.org/wiki/Giant_cell_tumor_of_bone Giant cell neoplasm of bone NCI2004_11_17:C3738 Giant cell tumor of bone (morphologic abnormality) SNOMEDCT_2005_07_31:57500000 Giant cell tumor of bone NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189891002 ICD10CM:M54.1 ICD10CM:M54.10 MESH:D011843 SNOMEDCT_US_2016_03_01:394640000 SNOMEDCT_US_2016_03_01:72274001 UMLS_CUI:C0700594 nerve root disorder nerve root disorder, NOS disease_ontology DOID:4306 radiculopathy nerve root disorder SNOMEDCT_2005_07_31:394640000 nerve root disorder, NOS SNOMEDCT_2005_07_31:72274001 MESH:D011128 NCI:C34934 SNOMEDCT_US_2016_03_01:75572007 UMLS_CUI:C0032586 Polyradiculopathy (disorder) disease_ontology DOID:4307 polyradiculopathy Polyradiculopathy (disorder) SNOMEDCT_2005_07_31:75572007 MESH:D011129 SNOMEDCT_US_2016_03_01:128078004 UMLS_CUI:C0032587 Polyradiculoneuropathy (disorder) disease_ontology DOID:4308 polyradiculoneuropathy Polyradiculoneuropathy (disorder) SNOMEDCT_2005_07_31:128078004 MESH:D009209 UMLS_CUI:C0027073 disease_ontology DOID:431 myofascial pain syndrome MESH:D018235 NCI:C3751 SNOMEDCT_US_2016_03_01:189799007 SNOMEDCT_US_2016_03_01:75109009 UMLS_CUI:C0206658 Smooth muscle tumor NOS (morphologic abnormality) Smooth muscle tumour of uncertain malignant potential neoplasm of the Smooth Muscle disease_ontology DOID:4310 smooth muscle tumor Smooth muscle tumor NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189799007 Smooth muscle tumour of uncertain malignant potential SNOMEDCT_2005_07_31:75109009 neoplasm of the Smooth Muscle NCI2004_11_17:C3751 ICD10CM:L12.3 ICD10CM:L12.30 MESH:D016107 NCI:C84690 SNOMEDCT_US_2016_03_01:200911009 SNOMEDCT_US_2016_03_01:2772003 UMLS_CUI:C0079293 acquired epidermolysis bullosa acquired epidermolysis bullosa (disorder) disease_ontology DOID:4313 epidermolysis bullosa acquisita acquired epidermolysis bullosa SNOMEDCT_2005_07_31:200911009 acquired epidermolysis bullosa (disorder) SNOMEDCT_2005_07_31:2772003 A viral infectious disease that results_in infection located_in brain in sheep and goats, has_material_basis_in Visna/Maedi virus , which is transmitted_by droplet spread of oronasal secretion, and transmitted_by ingestion of contaminated water, milk or colostrum. The infection has_symptom hindlimb weakness, has_symptom head tilt, has_symptom ataxia, has_symptom incoordination, has_symptom muscle tremors, has_symptom paresis, and has_symptom paraplegia. Ovine encephalomyelitis disease_ontology DOID:4318 visna true A viral infectious disease that results_in infection located_in brain in sheep and goats, has_material_basis_in Visna/Maedi virus , which is transmitted_by droplet spread of oronasal secretion, and transmitted_by ingestion of contaminated water, milk or colostrum. The infection has_symptom hindlimb weakness, has_symptom head tilt, has_symptom ataxia, has_symptom incoordination, has_symptom muscle tremors, has_symptom paresis, and has_symptom paraplegia. url:http://www.cfsph.iastate.edu/Factsheets/pdfs/maedi_visna.pdf Ovine encephalomyelitis SNOMEDCT_2005_07_31:59350003 MESH:D031954 UMLS_CUI:C1135873 disease_ontology DOID:4320 non-gestational choriocarcinoma NCI:C27518 UMLS_CUI:C1334362 disease_ontology DOID:4321 large cell acanthoma MESH:D049309 NCI:C4468 SNOMEDCT_US_2016_03_01:254693008 UMLS_CUI:C0346005 Pilar Sheath acanthoma Pilar sheath acanthoma (disorder) disease_ontology DOID:4322 pilar sheath acanthoma Pilar Sheath acanthoma NCI2004_11_17:C4468 Pilar sheath acanthoma (disorder) SNOMEDCT_2005_07_31:254693008 NCI:C27516 UMLS_CUI:C1333414 disease_ontology DOID:4323 epidermolytic acanthoma NCI:C27517 SNOMEDCT_US_2016_03_01:397188008 UMLS_CUI:C1301270 Acantholytic acanthoma disease_ontology DOID:4324 acantholytic acanthoma Acantholytic acanthoma NCI2004_11_17:C27517 A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Zaire ebolavirus, has_material_basis_in Sudan ebolavirus, has_material_basis_in Cote d'Ivoire ebolavirus, or has_material_basis_in Bundibugyo ebolavirus, which are transmitted_by contact with the body fluids of an infected animal or person, transmitted_by contaminated fomites, or transmitted_by infected medical equipment. The infection has_symptom fever, has_symptom headache, has_symptom joint pain, has_symptom muscle aches, has_symptom sore throat, has_symptom weakness, has_symptom diarrhea, has_symptom vomiting, has_symptom stomach pain, has_symptom rash, has_symptom red eyes, has_symptom hiccups, and has_symptom internal and external bleeding. ICD10CM:A98.4 MESH:D019142 NCI:C36171 SNOMEDCT_US_2016_03_01:123323003 SNOMEDCT_US_2016_03_01:186746000 SNOMEDCT_US_2016_03_01:37109004 UMLS_CUI:C0282687 Ebola virus disease disease_ontology DOID:4325 Ebola hemorrhagic fever A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Zaire ebolavirus, has_material_basis_in Sudan ebolavirus, has_material_basis_in Cote d'Ivoire ebolavirus, or has_material_basis_in Bundibugyo ebolavirus, which are transmitted_by contact with the body fluids of an infected animal or person, transmitted_by contaminated fomites, or transmitted_by infected medical equipment. The infection has_symptom fever, has_symptom headache, has_symptom joint pain, has_symptom muscle aches, has_symptom sore throat, has_symptom weakness, has_symptom diarrhea, has_symptom vomiting, has_symptom stomach pain, has_symptom rash, has_symptom red eyes, has_symptom hiccups, and has_symptom internal and external bleeding. url:http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/ebola/qa.htm Ebola virus disease SNOMEDCT_2005_07_31:186746000 A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Filoviridae viruses. disease_ontology DOID:4326 Filoviridae infectious disease true A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Filoviridae viruses. url:http://en.wikipedia.org/wiki/Filoviridae A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Marburgvirus, which is transmitted_by contact with the body fluids of an infected person. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash on the trunk, has_symptom nausea, has_symptom vomiting, has_symptom chest pain, has_symptom sore throat, has_symptom abdominal pain, has_symptom diarrhea, and has_symptom bleeding. ICD10CM:A98.3 MESH:D008379 NCI:C84883 SNOMEDCT_US_2016_03_01:123322008 SNOMEDCT_US_2016_03_01:77503002 UMLS_CUI:C0024788 Marburg disease Marburg virus disease disease_ontology DOID:4327 Marburg hemorrhagic fever A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Marburgvirus, which is transmitted_by contact with the body fluids of an infected person. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash on the trunk, has_symptom nausea, has_symptom vomiting, has_symptom chest pain, has_symptom sore throat, has_symptom abdominal pain, has_symptom diarrhea, and has_symptom bleeding. url:http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/marburg/qa.htm Marburg disease MTHICD9_2006:078.89 MESH:D031249 NCI:C53972 SNOMEDCT_US_2016_03_01:699537002 SNOMEDCT_US_2016_03_01:703711007 UMLS_CUI:C0878675 disease_ontology DOID:4329 Erdheim-Chester disease disease_ontology DOID:433 Intraventricular hemorrhage from any perinatal cause true MESH:D015616 SNOMEDCT_US_2016_03_01:127069007 UMLS_CUI:C0019624 disease_ontology DOID:4330 non-Langerhans-cell histiocytosis MESH:D002054 NCI:C62545 SNOMEDCT_US_2016_03_01:111349000 SNOMEDCT_US_2016_03_01:399165002 UMLS_CUI:C0006430 Orodynia Stomatopyrosis disease_ontology DOID:4331 burning mouth syndrome Orodynia SNOMEDCT_2005_07_31:111349000 Stomatopyrosis SNOMEDCT_2005_07_31:399165002 Hypophosphatemia, familial familial hypophosphataemia disease_ontology DOID:4332 familial hypophosphatemia true Hypophosphatemia, familial MTH:U000306 familial hypophosphataemia SNOMEDCT_2005_07_31:237901003 ICD10CM:Q50.4 ICD10CM:Q50.5 MESH:D010310 SNOMEDCT_US_2016_03_01:204831002 SNOMEDCT_US_2016_03_01:64233004 UMLS_CUI:C0030584 Cyst, fimbrial Embryonic fimbrial cyst disease_ontology DOID:4333 parovarian cyst Cyst, fimbrial MTHICD9_2006:752.11 Embryonic fimbrial cyst SNOMEDCT_2005_07_31:64233004 NCI:C7297 UMLS_CUI:C1336066 disease_ontology DOID:4334 splenic manifestation of prolymphocytic leukemia A tinea capitis that results_in fungal infection located_in scalp, located_in glabrous skin or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and results_in_formation_of scutula, yellowish cup-shaped crusts of dense masses of mycelium and epithelial debris, which develop at the surface of a hair follicle with the shaft in the center of the raised lesion. Removal of these crusts reveals an oozing, moist, red base. Later, atrophy of the skin occurs leaving a cicatricial alopecia and scarring. DOID:0050109 ICD10CM:B35 MESH:D014007 NCI:C35072 SNOMEDCT_US_2016_03_01:85375000 UMLS_CUI:C0040254 favus disease_ontology DOID:4336 tinea favosa A tinea capitis that results_in fungal infection located_in scalp, located_in glabrous skin or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and results_in_formation_of scutula, yellowish cup-shaped crusts of dense masses of mycelium and epithelial debris, which develop at the surface of a hair follicle with the shaft in the center of the raised lesion. Removal of these crusts reveals an oozing, moist, red base. Later, atrophy of the skin occurs leaving a cicatricial alopecia and scarring. url:http://www.doctorfungus.org/mycoses/human/other/Tinea_capitis_favosa.htm A dermatophytosis that results_in contagious fungal infection located_in scalp, located_in hair of head, located_in eyebrow or located_in eyelash, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching of the scalp, has_symptom pus filled lesions on the scalp, and has_symptom patches of hair loss, sometimes with a 'black dot' pattern. DOID:0050114 DOID:12319 ICD9CM:110.0 NCI:C34536 SNOMEDCT_US_2016_03_01:186985002 SNOMEDCT_US_2016_03_01:186987005 SNOMEDCT_US_2016_03_01:266148000 UMLS_CUI:C0011640 Scalp ringworm Trichophyton rubrum tinea capitis dermatophytosis of scalp or beard tinea capitis due to Trichophyton rubrum disease_ontology Dermatophytosis of scalp DOID:4337 tinea capitis A dermatophytosis that results_in contagious fungal infection located_in scalp, located_in hair of head, located_in eyebrow or located_in eyelash, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching of the scalp, has_symptom pus filled lesions on the scalp, and has_symptom patches of hair loss, sometimes with a 'black dot' pattern. url:http://www.doctorfungus.org/mycoses/human/other/Tinea_capitis_favosa.htm url:http://www.nlm.nih.gov/medlineplus/ency/article/000878.htm Scalp ringworm SNOMEDCT_2005_07_31:154396008 disease_ontology DOID:434 anterior mediastinum cancer true MESH:D046350 NCI:C85219 OMIM:176200 SNOMEDCT_US_2016_03_01:276264004 SNOMEDCT_US_2016_03_01:58275005 UMLS_CUI:C0162532 Protocoproporphyria Protoporphyrinogen oxidase deficiency Variegate porphyria (disorder) disease_ontology DOID:4346 variegate porphyria Protocoproporphyria MTHICD9_2006:277.1 Protoporphyrinogen oxidase deficiency SNOMEDCT_2005_07_31:276264004 Variegate porphyria (disorder) SNOMEDCT_2005_07_31:58275005 MESH:D008210 NCI:C78442 SNOMEDCT_US_2016_03_01:12167004 SNOMEDCT_US_2016_03_01:234109007 SNOMEDCT_US_2016_03_01:234110002 UMLS_CUI:C0024248 Lymph cyst disease_ontology DOID:4347 lymphocele Lymph cyst SNOMEDCT_2005_07_31:234110002 DOID:11084 DOID:11085 Rupture of uterus before onset of labor, antepartum Rupture of uterus before onset of labor, with delivery disease_ontology DOID:4349 complications occurring mainly in the course of labor and delivery true disease_ontology DOID:435 malignant neoplasm of thymus, heart and mediastinum true Anaplasmosis (disorder) disease_ontology DOID:4350 bovine anaplasmosis true Anaplasmosis (disorder) SNOMEDCT_2005_07_31:13906002 disease_ontology DOID:4351 primary Anaplasmataceae infectious disease true DOID:6352 ICD10CM:C69.4 NCI:C4364 NCI:C4766 SNOMEDCT_US_2016_03_01:126998003 SNOMEDCT_US_2016_03_01:188263008 SNOMEDCT_US_2016_03_01:93756008 UMLS_CUI:C0339349 UMLS_CUI:C0496833 malignant neoplasm of ciliary body malignant tumor of ciliary body (disorder) malignant tumor of the Ciliary body neoplasm of ciliary body (disorder) tumor of the Ciliary body disease_ontology DOID:4352 ciliary body cancer malignant tumor of ciliary body (disorder) SNOMEDCT_2005_07_31:188263008 malignant tumor of the Ciliary body NCI2004_11_17:C4766 neoplasm of ciliary body (disorder) SNOMEDCT_2005_07_31:126998003 tumor of the Ciliary body NCI2004_11_17:C4364 NCI:C35775 SNOMEDCT_US_2016_03_01:155116005 SNOMEDCT_US_2016_03_01:193481009 SNOMEDCT_US_2016_03_01:267719008 SNOMEDCT_US_2016_03_01:68575007 UMLS_CUI:C0271100 disease_ontology DOID:4353 ciliary body disease malignant melanoma, regressing (morphologic abnormality) regressing malignant melanoma regressing melanoma disease_ontology DOID:4356 regressing malignant melanoma true malignant melanoma, regressing (morphologic abnormality) SNOMEDCT_2005_07_31:39896009 regressing malignant melanoma SNOMEDCT_2005_07_31:189750008 regressing melanoma NCI2004_11_17:C4228 Experimental malignant melanoma disease_ontology DOID:4357 experimental melanoma true Experimental malignant melanoma NCI2004_11_17:C16835 disease_ontology DOID:4358 metastatic melanoma true MESH:D018328 NCI:C3802 SNOMEDCT_US_2016_03_01:70594002 UMLS_CUI:C0206735 Amelanotic melanoma Amelanotic melanoma (morphologic abnormality) disease_ontology DOID:4359 amelanotic melanoma Amelanotic melanoma NCI2004_11_17:C3802 Amelanotic melanoma (morphologic abnormality) SNOMEDCT_2005_07_31:70594002 ICD10CM:C38.2 ICD9CM:164.3 SNOMEDCT_US_2016_03_01:187888005 SNOMEDCT_US_2016_03_01:448670003 UMLS_CUI:C0153502 disease_ontology DOID:436 posterior mediastinum cancer NCI:C4236 SNOMEDCT_US_2016_03_01:37138001 UMLS_CUI:C0334443 epithelioid cell melanoma (morphologic abnormality) epithelioid melanoma disease_ontology DOID:4360 epithelioid cell melanoma epithelioid cell melanoma (morphologic abnormality) SNOMEDCT_2005_07_31:37138001 epithelioid melanoma NCI2004_11_17:C4236 A female reproductive organ cancer that is located_in the cervix. DOID:4361 ICD10CM:C53 ICD10CM:C53.9 ICD9CM:180 ICD9CM:180.9 MESH:D002583 NCI:C2940 NCI:C9311 OMIM:603956 SNOMEDCT_US_2016_03_01:123841004 SNOMEDCT_US_2016_03_01:188174005 SNOMEDCT_US_2016_03_01:188186008 SNOMEDCT_US_2016_03_01:254885005 SNOMEDCT_US_2016_03_01:363354003 SNOMEDCT_US_2016_03_01:93752005 UMLS_CUI:C0007847 UMLS_CUI:C0007873 cervical neoplasm cervix cancer cervix uteri cancer neoplasm of uterine cervix (disorder) tumor of the Cervix Uteri uterine cervical neoplasm disease_ontology DOID:4362 cervical cancer A female reproductive organ cancer that is located_in the cervix. url:http://cancergenome.nih.gov/cancersselected/cervicalcancer url:http://en.wikipedia.org/wiki/Cervical_cancer url:http://www.cancer.gov/dictionary?CdrID=444973 cervical neoplasm CSP2005:2016-1746 neoplasm of uterine cervix (disorder) SNOMEDCT_2005_07_31:123841004 tumor of the Cervix Uteri NCI2004_11_17:C2940 NCI:C8410 SNOMEDCT_US_2016_03_01:188050009 UMLS_CUI:C0346787 breast melanoma malignant melanoma of breast (disorder) disease_ontology DOID:4364 malignant breast melanoma breast melanoma NCI2004_11_17:C8410 malignant melanoma of breast (disorder) SNOMEDCT_2005_07_31:188050009 MESH:D043204 NCI:C123231 SNOMEDCT_US_2016_03_01:237770005 UMLS_CUI:C0342488 syndrome of apparent mineralocorticoid excess (disorder) disease_ontology DOID:4367 apparent mineralocorticoid excess syndrome syndrome of apparent mineralocorticoid excess (disorder) SNOMEDCT_2005_07_31:237770005 disease_ontology DOID:4369 brain hypoxia-Ischemia true DOID:443 DOID:444 ICD10CM:G70.0 ICD10CM:G70.00 ICD9CM:358.0 ICD9CM:358.00 MESH:D009157 NCI:C60989 OMIM:254200 SNOMEDCT_US_2016_03_01:155092009 SNOMEDCT_US_2016_03_01:193208002 SNOMEDCT_US_2016_03_01:91637004 UMLS_CUI:C0026896 UMLS_CUI:C1260409 disease_ontology DOID:437 OMIM mapping confirmed by DO. [SN]. myasthenia gravis MESH:D045724 UMLS_CUI:C1148546 disease_ontology DOID:4370 stomach diverticulosis MESH:D019873 SNOMEDCT_US_2016_03_01:402415001 UMLS_CUI:C0524988 Schnitzler syndrome (disorder) disease_ontology DOID:4371 Schnitzler syndrome Schnitzler syndrome (disorder) SNOMEDCT_2005_07_31:402415001 DOID:1957 DOID:1958 ICD10CM:I66 ICD9CM:434.1 MESH:D020766 SNOMEDCT_US_2016_03_01:155402009 SNOMEDCT_US_2016_03_01:75543006 UMLS_CUI:C0007780 UMLS_CUI:C0752140 Cerebral embolism with cerebral infarction cerebral embolism disease_ontology DOID:4372 intracranial embolism MESH:D012832 SNOMEDCT_US_2016_03_01:61233003 UMLS_CUI:C0037120 Silo-fillers' disease silo filler disease disease_ontology DOID:4374 silo filler's disease Silo-fillers' disease MTHICD9_2006:506.9 disease_ontology DOID:4375 agricultural workers' disease true A food allergy that results in adverse immune reaction to one or more of the proteins in cow's milk and/or the milk of other animals, which are normally harmless to the non-allergic individual. MESH:D016269 UMLS_CUI:C0079840 milk allergic reaction disease_ontology DOID:4376 milk allergy A food allergy that results in adverse immune reaction to one or more of the proteins in cow's milk and/or the milk of other animals, which are normally harmless to the non-allergic individual. url:http://en.wikipedia.org/wiki/Milk_hypersensitivity A food allergy that is an allergy or hypersensitivity to dietary substances from the yolk or whites of eggs, causing an overreaction of the immune system which may lead to severe physical symptoms. MESH:D021181 SNOMEDCT_US_2016_03_01:157802003 SNOMEDCT_US_2016_03_01:213019003 SNOMEDCT_US_2016_03_01:91930004 UMLS_CUI:C0559469 Allergy to eggs disease_ontology DOID:4377 egg allergy A food allergy that is an allergy or hypersensitivity to dietary substances from the yolk or whites of eggs, causing an overreaction of the immune system which may lead to severe physical symptoms. ls:IEDB url:http://en.wikipedia.org/wiki/Allergy#Foods Allergy to eggs SNOMEDCT_2005_07_31:91930004 A food allergy that is an allergy or hypersensitivity to dietary substances from peanuts causing an overreaction of the immune system which in a small percentage of people may lead to severe physical symptoms. MESH:D021183 SNOMEDCT_US_2016_03_01:213021008 SNOMEDCT_US_2016_03_01:91935009 UMLS_CUI:C0559470 allergy to peanuts peanut allergic reaction disease_ontology DOID:4378 peanut allergy A food allergy that is an allergy or hypersensitivity to dietary substances from peanuts causing an overreaction of the immune system which in a small percentage of people may lead to severe physical symptoms. ls:IEDB url:http://en.wikipedia.org/wiki/Allergy#Foods allergy to peanuts SNOMEDCT_2005_07_31:213021008 peanut allergic reaction SNOMEDCT_2005_07_31:91935009 MESH:D021184 SNOMEDCT_US_2016_03_01:395654004 SNOMEDCT_US_2016_03_01:91934008 UMLS_CUI:C0577620 allergy to nuts nut allergic reaction disease_ontology DOID:4379 nut allergy nut allergic reaction SNOMEDCT_2005_07_31:395654004 MESH:D020274 NCI:C99383 UMLS_CUI:C0751871 disease_ontology autoimmune nervous system disorder DOID:438 autoimmune disease of the nervous system autoimmune nervous system disorder CSP2005:1560-5548 disease_ontology DOID:4381 conventional alveolar rhabdomyosarcoma true disease_ontology DOID:4383 OMIM mapping confirmed by DO. [SN]. solid alveolar rhabdomyosarcoma true NCI:C6247 UMLS_CUI:C1335126 Alveolar Rhabdomyosarcoma of the orbit disease_ontology DOID:4384 orbit alveolar rhabdomyosarcoma Alveolar Rhabdomyosarcoma of the orbit NCI2004_11_17:C6247 A squamous cell carcinoma that has papillae, which are characterized either by narrow fibrovascular cores that superficially resemble papillary carcinoma of the urinary tract or by broad cores that contain edematous fibrous stroma with prominent capillaries and stromal inflammation. NCI:C4102 SNOMEDCT_US_2016_03_01:39056008 UMLS_CUI:C0334244 papillary epidermoid carcinoma disease_ontology DOID:4385 papillary squamous carcinoma A squamous cell carcinoma that has papillae, which are characterized either by narrow fibrovascular cores that superficially resemble papillary carcinoma of the urinary tract or by broad cores that contain edematous fibrous stroma with prominent capillaries and stromal inflammation. url:http://www.sciencedirect.com/science/article/pii/S0090825803003299 MESH:D047708 SNOMEDCT_US_2016_03_01:128917003 SNOMEDCT_US_2016_03_01:44598004 UMLS_CUI:C1266121 Lipoleiomyoma Myofibroma Myofibroma (morphologic abnormality) disease_ontology DOID:4386 myofibroma Lipoleiomyoma SNOMEDCT_2005_07_31:44598004 Myofibroma SNOMEDCT_2005_07_31:128917003 disease_ontology DOID:4387 recurrent peripheral primitive neuroectodermal tumor true NCI:C8776 UMLS_CUI:C0855009 osseous peripheral Neuroepithelioma disease_ontology DOID:4388 bone peripheral neuroepithelioma osseous peripheral Neuroepithelioma NCI2004_11_17:C8776 NCI:C27471 UMLS_CUI:C1112437 peripheral Neuroectodermal tumor of soft tissues disease_ontology DOID:4389 soft tissue peripheral neuroepithelioma peripheral Neuroectodermal tumor of soft tissues NCI2004_11_17:C27471 A neuromuscular disease that is characterized by the disfunction of conduction through the neuromuscular junction. MESH:D020511 SNOMEDCT_US_2016_03_01:128213006 UMLS_CUI:C0751950 disease_ontology DOID:439 neuromuscular junction disease A neuromuscular disease that is characterized by the disfunction of conduction through the neuromuscular junction. url:http://en.wikipedia.org/wiki/Neuromuscular_junction_disease A Paramyxoviridae infectious disease that results_in infection in domestic animals and humans, has_material_basis_in Henipavirus, which is transmitted_by direct contact with the urine, feces, and nasal secretions of an infected animal. disease_ontology DOID:4393 Henipavirus infectious disease true A Paramyxoviridae infectious disease that results_in infection in domestic animals and humans, has_material_basis_in Henipavirus, which is transmitted_by direct contact with the urine, feces, and nasal secretions of an infected animal. url:http://en.wikipedia.org/wiki/Henipavirus url:http://www.expasy.org/viralzone/all_by_species/85.html MESH:D015616 NCI:C3356 SNOMEDCT_US_2016_03_01:128741006 SNOMEDCT_US_2016_03_01:15960008 SNOMEDCT_US_2016_03_01:189097004 SNOMEDCT_US_2016_03_01:404162004 UMLS_CUI:C0035290 Reticulohistiocytic granuloma (morphologic abnormality) Reticulohistiocytoma Solitary Reticulohistiocytoma Solitary reticulohistiocytoma disease_ontology DOID:4394 reticulohistiocytic granuloma Reticulohistiocytic granuloma (morphologic abnormality) SNOMEDCT_2005_07_31:15960008 Reticulohistiocytoma SNOMEDCT_2005_07_31:128741006 Reticulohistiocytoma SNOMEDCT_2005_07_31:189097004 Solitary Reticulohistiocytoma NCI2004_11_17:C3356 Solitary reticulohistiocytoma SNOMEDCT_2005_07_31:404162004 NCI:C3505 UMLS_CUI:C0743086 disease_ontology DOID:4397 granulomatous dermatitis ICD10CM:L40.3 MESH:D011565 NCI:C34888 SNOMEDCT_US_2016_03_01:238610005 SNOMEDCT_US_2016_03_01:27520001 UMLS_CUI:C0030246 Acropustulosis Palmoplantar Pustulosis Pustular psoriasis of the palms and/or soles disease_ontology DOID:4398 pustulosis of palm and sole Acropustulosis SNOMEDCT_2005_07_31:238610005 Palmoplantar Pustulosis NCI2004_11_17:C34888 Pustular psoriasis of the palms and/or soles SNOMEDCT_2005_07_31:27520001 NCI:C35277 UMLS_CUI:C0234894 disease_ontology DOID:4399 acneiform dermatitis A neuropathy that affect the nerves that control the voluntary muscles. ICD10CM:G70.9 ICD9CM:358 ICD9CM:358.9 MESH:D009468 SNOMEDCT_US_2016_03_01:1664005 SNOMEDCT_US_2016_03_01:193218007 SNOMEDCT_US_2016_03_01:255522009 SNOMEDCT_US_2016_03_01:257277002 UMLS_CUI:C0027868 disease_ontology DOID:440 neuromuscular disease A neuropathy that affect the nerves that control the voluntary muscles. url:http://www.nlm.nih.gov/medlineplus/neuromusculardisorders.html ICD10CM:L82 MESH:C562379 NCI:C2984 OMIM:125600 SNOMEDCT_US_2016_03_01:103672009 SNOMEDCT_US_2016_03_01:254669003 SNOMEDCT_US_2016_03_01:25499005 UMLS_CUI:C0011645 Dermatosis papulosa nigra Dermatosis papulosa nigra (disorder) Dermatosis papulosa nigra (morphologic abnormality) disease_ontology DOID:4400 OMIM mapping confirmed by DO. [SN]. dermatosis papulosa nigra Dermatosis papulosa nigra SNOMEDCT_2005_07_31:25499005 Dermatosis papulosa nigra (disorder) SNOMEDCT_2005_07_31:254669003 Dermatosis papulosa nigra (morphologic abnormality) SNOMEDCT_2005_07_31:103672009 disease_ontology DOID:4403 cervical glandular tumor true MESH:D009783 NCI:C34859 SNOMEDCT_US_2016_03_01:156338009 SNOMEDCT_US_2016_03_01:200780008 SNOMEDCT_US_2016_03_01:225055005 SNOMEDCT_US_2016_03_01:238578002 SNOMEDCT_US_2016_03_01:267842005 SNOMEDCT_US_2016_03_01:402587003 SNOMEDCT_US_2016_03_01:83252008 UMLS_CUI:C0028796 Occupational Dermatitis Occupational allergic contact dermatitis (disorder) Occupational dermatitis Occupational dermatitis (disorder) Occupational eczema Occupational eczema (disorder) Occupational eczema (disorder) [Ambiguous] disease_ontology DOID:4404 occupational dermatitis Occupational Dermatitis NCI2004_11_17:C34859 Occupational allergic contact dermatitis (disorder) SNOMEDCT_2005_07_31:238578002 Occupational dermatitis SNOMEDCT_2005_07_31:200780008 Occupational dermatitis (disorder) SNOMEDCT_2005_07_31:402587003 Occupational eczema SNOMEDCT_2005_07_31:156338009 Occupational eczema SNOMEDCT_2005_07_31:267842005 Occupational eczema (disorder) SNOMEDCT_2005_07_31:225055005 Occupational eczema (disorder) [Ambiguous] SNOMEDCT_2005_07_31:83252008 NCI:C27037 SNOMEDCT_US_2016_03_01:23615008 UMLS_CUI:C0262984 Spongiotic dermatitis (disorder) disease_ontology DOID:4406 spongiotic dermatitis Spongiotic dermatitis (disorder) SNOMEDCT_2005_07_31:23615008 MESH:D017484 NCI:C4816 SNOMEDCT_US_2016_03_01:53597009 SNOMEDCT_US_2016_03_01:84326006 UMLS_CUI:C0162830 Photosensitisation reaction Photosensitive Dermatitis Photosensitiveness Phototoxic dermatitis (disorder) disease_ontology DOID:4407 phototoxic dermatitis Photosensitisation reaction SNOMEDCT_2005_07_31:84326006 Photosensitive Dermatitis NCI2004_11_17:C4816 Photosensitiveness MTHICD9_2006:692.79 Phototoxic dermatitis (disorder) SNOMEDCT_2005_07_31:53597009 MESH:D005499 NCI:C94408 SNOMEDCT_US_2016_03_01:13600006 SNOMEDCT_US_2016_03_01:156411003 SNOMEDCT_US_2016_03_01:201177005 SNOMEDCT_US_2016_03_01:201183008 SNOMEDCT_US_2016_03_01:267863007 UMLS_CUI:C0016436 disease_ontology DOID:4409 folliculitis Allergic Dermatitis due to Arnica Contact dermatitis due to arnica (disorder) Dermatitis due to arnica disease_ontology DOID:4410 contact dermatitis due to arnica true Allergic Dermatitis due to Arnica NCI2004_11_17:C35308 Contact dermatitis due to arnica (disorder) SNOMEDCT_2005_07_31:40712008 Dermatitis due to arnica MTHICD9_2006:692.3 A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis E virus, which is transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom dark urine, has_symptom joint pain, and has_symptom jaundice. DOID:12431 MESH:D016751 SNOMEDCT_US_2016_03_01:7111000119109 UMLS_CUI:C0085293 disease_ontology DOID:4411 hepatitis E A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis E virus, which is transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom dark urine, has_symptom joint pain, and has_symptom jaundice. url:http://www.cdc.gov/hepatitis/HEV/HEVfaq.htm#section1 A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Astroviridae viruses. disease_ontology DOID:4412 Astroviridae infectious disease true A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Astroviridae viruses. url:http://en.wikipedia.org/wiki/Astroviridae NCI:C40239 UMLS_CUI:C0877611 disease_ontology DOID:4413 cervix melanoma MESH:D018219 NCI:C3739 SNOMEDCT_US_2016_03_01:189769003 SNOMEDCT_US_2016_03_01:189770002 SNOMEDCT_US_2016_03_01:25889007 UMLS_CUI:C0206644 Fibroxanthoma NOS (morphologic abnormality) benign fibrous histiocytoma (morphologic abnormality) fibrous Histiocytoma fibrous histiocytoma NOS (morphologic abnormality) disease_ontology DOID:4415 fibrous histiocytoma Fibroxanthoma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189770002 benign fibrous histiocytoma (morphologic abnormality) SNOMEDCT_2005_07_31:25889007 fibrous Histiocytoma NCI2004_11_17:C3739 fibrous histiocytoma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189769003 DOID:4417 MESH:D018219 NCI:C6801 NCI:C8402 SNOMEDCT_US_2016_03_01:134302009 SNOMEDCT_US_2016_03_01:189051001 SNOMEDCT_US_2016_03_01:254749001 SNOMEDCT_US_2016_03_01:254750001 SNOMEDCT_US_2016_03_01:254753004 SNOMEDCT_US_2016_03_01:302843004 SNOMEDCT_US_2016_03_01:403997008 SNOMEDCT_US_2016_03_01:403999006 SNOMEDCT_US_2016_03_01:427186000 SNOMEDCT_US_2016_03_01:448015002 SNOMEDCT_US_2016_03_01:72079004 UMLS_CUI:C0002991 UMLS_CUI:C0346049 Dermatofibroma Dermatofibroma NOS Dermatofibroma, no ICD-O subtype (morphologic abnormality) Fibrohistiocytic neoplasm Fibrohistiocytic tumor (disorder) Pleomorphic fibroma Sclerosing angioma (morphologic abnormality) Sclerosing angioma of skin benign Cutaneous fibrous Histiocytoma dermatofibroma fibrohistiocytic tumor fibrous histiocytoma of skin (disorder) fibrous xanthoma of skin (disorder) disease_ontology DOID:4418 cutaneous fibrous histiocytoma Dermatofibroma SNOMEDCT_2005_07_31:189051001 Dermatofibroma NOS SNOMEDCT_2005_07_31:302843004 Dermatofibroma, no ICD-O subtype (morphologic abnormality) SNOMEDCT_2005_07_31:72079004 Fibrohistiocytic neoplasm NCI2004_11_17:C8402 Fibrohistiocytic tumor (disorder) SNOMEDCT_2005_07_31:254749001 Pleomorphic fibroma SNOMEDCT_2005_07_31:403997008 Sclerosing angioma (morphologic abnormality) SNOMEDCT_2005_07_31:134302009 Sclerosing angioma of skin SNOMEDCT_2005_07_31:403999006 benign Cutaneous fibrous Histiocytoma NCI2004_11_17:C6801 dermatofibroma CSP2005:2004-1029 fibrous histiocytoma of skin (disorder) SNOMEDCT_2005_07_31:254750001 fibrous xanthoma of skin (disorder) SNOMEDCT_2005_07_31:254753004 NCI:C6492 SNOMEDCT_US_2016_03_01:128741006 UMLS_CUI:C1266125 disease_ontology DOID:4419 benign deep fibrous histiocytoma NCI:C40035 UMLS_CUI:C1510778 disease_ontology DOID:4422 malignant adenofibroma MESH:D012618 NCI:C85062 OMIM:269600 SNOMEDCT_US_2016_03_01:37821003 UMLS_CUI:C0036489 Sea-blue histiocyte syndrome (disorder) disease_ontology DOID:4423 OMIM mapping confirmed by DO. [SN]. sea-blue histiocyte syndrome Sea-blue histiocyte syndrome (disorder) SNOMEDCT_2005_07_31:37821003 MESH:D014972 NCI:C3451 SNOMEDCT_US_2016_03_01:189098009 SNOMEDCT_US_2016_03_01:400031009 SNOMEDCT_US_2016_03_01:400204000 SNOMEDCT_US_2016_03_01:71709009 UMLS_CUI:C0043324 Multiple eruptive juvenile xanthogranuloma Naevoxanthoendothelioma Xanthoma neviforme disease_ontology DOID:4424 juvenile xanthogranuloma Multiple eruptive juvenile xanthogranuloma SNOMEDCT_2005_07_31:400204000 Naevoxanthoendothelioma SNOMEDCT_2005_07_31:189098009 Xanthoma neviforme SNOMEDCT_2005_07_31:400031009 Xanthoma neviforme SNOMEDCT_2005_07_31:71709009 Lipogranuloma (disorder) Lipogranuloma (morphologic abnormality) Oil granuloma (disorder) Xanthogranuloma Xanthogranuloma (disorder) lipogranulomatosis disease_ontology DOID:4425 lipogranuloma true Lipogranuloma (disorder) SNOMEDCT_2005_07_31:416439000 Lipogranuloma (morphologic abnormality) SNOMEDCT_2005_07_31:36279001 Oil granuloma (disorder) SNOMEDCT_2005_07_31:238892000 Xanthogranuloma NCI2004_11_17:C27302 Xanthogranuloma (disorder) SNOMEDCT_2005_07_31:189099001 lipogranulomatosis CSP2005:1746-4981 A reading disorder resulting from a developmental reading disability involving the inability to process graphic symbols resulting in impairment of reading ability. ICD10CM:F81.0 MESH:D004410 NCI:C96410 OMIM:127700 OMIM:300509 OMIM:600202 OMIM:604254 OMIM:606616 OMIM:606896 OMIM:608995 SNOMEDCT_US_2016_03_01:154954003 SNOMEDCT_US_2016_03_01:158318003 SNOMEDCT_US_2016_03_01:192137002 SNOMEDCT_US_2016_03_01:206987006 SNOMEDCT_US_2016_03_01:268788005 SNOMEDCT_US_2016_03_01:52824009 SNOMEDCT_US_2016_03_01:59770006 SNOMEDCT_US_2016_03_01:9236007 UMLS_CUI:C0476254 disease_ontology DOID:4428 Xref MGI. dyslexia A reading disorder resulting from a developmental reading disability involving the inability to process graphic symbols resulting in impairment of reading ability. url:http://en.wikipedia.org/wiki/Dyslexia MESH:D013005 NCI:C3379 SNOMEDCT_US_2016_03_01:128642005 SNOMEDCT_US_2016_03_01:253006001 UMLS_CUI:C0037661 Somatostatin cell neoplasm Somatostatin cell tumour disease_ontology DOID:4430 somatostatinoma Somatostatin cell neoplasm NCI2004_11_17:C3379 Somatostatin cell tumour SNOMEDCT_2005_07_31:128642005 NCI:C8006 NCI:C95595 UMLS_CUI:C1368041 pancreatic Somatostatin cell tumor pancreatic delta cell somatostatin producing neoplasm disease_ontology DOID:4432 pancreatic somatostatinoma pancreatic Somatostatin cell tumor NCI2004_11_17:C8006 NCI:C28396 UMLS_CUI:C1335301 pancreatic Delta cell tumor disease_ontology DOID:4433 pancreatic delta cell neoplasm pancreatic Delta cell tumor NCI2004_11_17:C28396 NCI:C5803 UMLS_CUI:C1336005 small Intestine neuroendocrine tumor disease_ontology DOID:4434 small intestine neuroendocrine neoplasm small Intestine neuroendocrine tumor NCI2004_11_17:C5803 NCI:C5268 UMLS_CUI:C1332865 meningioma of the Cavernous sinus disease_ontology DOID:4435 cavernous sinus meningioma meningioma of the Cavernous sinus NCI2004_11_17:C5268 NCI:C5286 UMLS_CUI:C1332301 meningioma of the Anterior Fossa disease_ontology DOID:4436 anterior cranial fossa meningioma meningioma of the Anterior Fossa NCI2004_11_17:C5286 NCI:C5272 UMLS_CUI:C1335976 meningioma of the Skull Base disease_ontology DOID:4437 skull base meningioma meningioma of the Skull Base NCI2004_11_17:C5272 NCI:C7009 UMLS_CUI:C1333813 germinoma of CNS disease_ontology DOID:4438 central nervous system germinoma germinoma of CNS NCI2004_11_17:C7009 NCI:C5461 UMLS_CUI:C1332880 germ cell tumor of the CNS disease_ontology DOID:4439 central nervous system germ cell tumor germ cell tumor of the CNS NCI2004_11_17:C5461 A germinoma that has_material_basis_in cells that make sperm and eggs. MESH:D018239 NCI:C7328 NCI:C9309 OMIM:273300 SNOMEDCT_US_2016_03_01:154532006 SNOMEDCT_US_2016_03_01:188228003 SNOMEDCT_US_2016_03_01:189840000 SNOMEDCT_US_2016_03_01:189841001 SNOMEDCT_US_2016_03_01:255107005 SNOMEDCT_US_2016_03_01:269603004 SNOMEDCT_US_2016_03_01:36741007 SNOMEDCT_US_2016_03_01:443675005 UMLS_CUI:C0036631 Seminoma, Pure disease_ontology DOID:4440 OMIM mapping confirmed by DO. [LS]. seminoma A germinoma that has_material_basis_in cells that make sperm and eggs. url:http://www.cancer.gov/dictionary?CdrID=46577 Seminoma, Pure NCI2004_11_17:C9309 A germ cell cancer that derives_from cells that give rise to egg cells. MESH:D004407 NCI:C2996 SNOMEDCT_US_2016_03_01:60718004 UMLS_CUI:C0013377 disease_ontology DOID:4441 dysgerminoma A germ cell cancer that derives_from cells that give rise to egg cells. url:http://en.wikipedia.org/wiki/Dysgerminoma url:http://www.cancer.gov/dictionary?CdrID=672835 An alveolar soft part sarcoma and cervical soft tissue tumor and malignant neoplasm of cervix uteri that is located_in the cervix. NCI:C40225 UMLS_CUI:C1516408 disease_ontology DOID:4442 cervical alveolar soft part sarcoma An alveolar soft part sarcoma and cervical soft tissue tumor and malignant neoplasm of cervix uteri that is located_in the cervix. url:http://www.ncbi.nlm.nih.gov/pubmed/2479947 disease_ontology DOID:4443 cervical soft tissue tumor true Arachnoid cyst Arachnoid cyst (disorder) Leptomeningeal Cyst disease_ontology DOID:4445 arachnoid cyst true Arachnoid cyst MTHICD9_2006:348.0 Arachnoid cyst (disorder) SNOMEDCT_2005_07_31:33595009 Leptomeningeal Cyst NCI2004_11_17:C3455 Cyst of central nervous system (disorder) Cyst of the CNS disease_ontology DOID:4446 central nervous system cyst true Cyst of central nervous system (disorder) SNOMEDCT_2005_07_31:277333006 Cyst of the CNS NCI2004_11_17:C4657 MESH:D008269 NCI:C34794 OMIM:153880 SNOMEDCT_US_2016_03_01:193387007 UMLS_CUI:C0024440 disease_ontology DOID:4447 OMIM mapping confirmed by DO. [SN]. cystoid macular edema A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss. MESH:D008268 MESH:D057135 NCI:C123330 ORDO:279 SNOMEDCT_US_2016_03_01:302891003 SNOMEDCT_US_2016_03_01:422338006 UMLS_CUI:C0024437 Macular degeneration of retina disease_ontology DOID:4448 Xref MGI. macular degeneration A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss. url:http://ghr.nlm.nih.gov/condition/age-related-macular-degeneration url:http://rarediseases.info.nih.gov/gard/10260/macular-degeneration/resources/1 Macular degeneration of retina MTHICD9_2006:362.50 MESH:D008269 NCI:C35468 SNOMEDCT_US_2016_03_01:37231002 UMLS_CUI:C0271051 macular edema disease_ontology DOID:4449 macular retinal edema macular edema CSP2005:1114-9311 ICD10CM:E26.81 ICD9CM:255.13 MESH:D001477 NCI:C34412 OMIM:PS601678 SNOMEDCT_US_2016_03_01:190506003 SNOMEDCT_US_2016_03_01:707742001 SNOMEDCT_US_2016_03_01:71275003 UMLS_CUI:C0004775 Aldosteronism with hyperplasia of the adrenal cortex Bartter's syndrome disease_ontology DOID:445 Bartter disease Aldosteronism with hyperplasia of the adrenal cortex SNOMEDCT_2005_07_31:71275003 Bartter's syndrome ICD9CM_2006:255.13 A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney. EFO:0000681 MESH:D002292 NCI:C9385 OMIM:300854 SNOMEDCT_US_2016_03_01:254915003 SNOMEDCT_US_2016_03_01:41607009 SNOMEDCT_US_2016_03_01:702391001 UMLS_CUI:C0007134 RCC adenocarcinoma of kidney hypernephroma disease_ontology DOID:4450 Xref MGI. renal cell carcinoma A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney. url:http://en.wikipedia.org/wiki/Renal_cell_carcinoma url:http://www.cancer.gov/dictionary?CdrID=661352 RCC CSP2005:4003-0049 adenocarcinoma of kidney SNOMEDCT_2005_07_31:254915003 hypernephroma SNOMEDCT_2005_07_31:188251003 A kidney cancer that derives_from the lining of the proximal convoluted tubule (the very small tubes in the kidney that filter the blood and remove waste products). NCI:C9384 SNOMEDCT_US_2016_03_01:254915003 UMLS_CUI:C1378703 carcinoma of kidney kidney carcinoma disease_ontology DOID:4451 renal carcinoma A kidney cancer that derives_from the lining of the proximal convoluted tubule (the very small tubes in the kidney that filter the blood and remove waste products). url:http://en.wikipedia.org/wiki/Renal_cell_carcinoma carcinoma of kidney SNOMEDCT_2005_07_31:254915003 Relapsed Renal cell carcinoma disease_ontology DOID:4452 recurrent renal cell carcinoma true Relapsed Renal cell carcinoma NCI2004_11_17:C7825 NCI:C6568 UMLS_CUI:C1333001 pediatric renal cell carcinoma disease_ontology DOID:4454 childhood kidney cell carcinoma pediatric renal cell carcinoma NCI2004_11_17:C6568 disease_ontology DOID:4455 hereditary renal cell carcinoma An adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands. ICD10CM:E26 ICD10CM:E26.9 ICD9CM:255.1 ICD9CM:255.10 MESH:D006929 NCI:C113213 OMIM:605635 OMIM:613677 ORDO:235936 SNOMEDCT_US_2016_03_01:154709005 SNOMEDCT_US_2016_03_01:190506003 SNOMEDCT_US_2016_03_01:190509005 SNOMEDCT_US_2016_03_01:267484005 SNOMEDCT_US_2016_03_01:88213004 UMLS_CUI:C0020428 disease_ontology DOID:446 Xref MGI. hyperaldosteronism An adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands. url:http://en.wikipedia.org/wiki/Hyperaldosteronism NCI:C4524 SNOMEDCT_US_2016_03_01:254916002 UMLS_CUI:C0346249 cystadenocarcinoma of kidney (disorder) renal cystadenocarcinoma disease_ontology DOID:4463 multilocular clear cell renal cell carcinoma cystadenocarcinoma of kidney (disorder) SNOMEDCT_2005_07_31:254916002 renal cystadenocarcinoma NCI2004_11_17:C4524 Collecting duct carcinoma is a renal cell carcinoma described as a rare and aggressive type of renal cell carcinoma. The cancerous cells form irregular tubes inside the tumor. Collecting duct carcinoma is more common among young people and unfortunately is diagnosed in most cases when the cancer has metastasized (spread inside the body). MESH:D002292 NCI:C6194 SNOMEDCT_US_2016_03_01:128669006 UMLS_CUI:C1266044 carcinoma of renal Collecting duct renal Medullary carcinoma renal carcinoma, collecting duct type disease_ontology DOID:4464 collecting duct carcinoma Collecting duct carcinoma is a renal cell carcinoma described as a rare and aggressive type of renal cell carcinoma. The cancerous cells form irregular tubes inside the tumor. Collecting duct carcinoma is more common among young people and unfortunately is diagnosed in most cases when the cancer has metastasized (spread inside the body). URL:http://www.omnimedicalsearch.com/conditions-disease/renal-cell-carcinoma-overview-types.html carcinoma of renal Collecting duct NCI2004_11_17:C6194 renal Medullary carcinoma NCI2004_11_17:C7572 renal carcinoma, collecting duct type SNOMEDCT_2005_07_31:128669006 A renal cell carcinoma that is characterized by the development of multiple, bilateral papillary renal tumors. DOID:8063 MESH:C538614 MESH:D002292 NCI:C27890 NCI:C6975 OMIM:605074 SNOMEDCT_US_2016_03_01:4797003 UMLS_CUI:C1306837 UMLS_CUI:C1336078 Chromophil carcinoma of kidney Papillary renal cell carcinoma papillary kidney carcinoma sporadic papillary renal cell carcinoma disease_ontology DOID:4465 OMIM mapping confirmed by DO. [SN]. papillary renal cell carcinoma A renal cell carcinoma that is characterized by the development of multiple, bilateral papillary renal tumors. URL:http://www.omnimedicalsearch.com/conditions-disease/renal-cell-carcinoma-overview-types.html url:http://cancergenome.nih.gov/cancersselected/kidneypapillary url:http://www.omim.org/entry/605074 Chromophil carcinoma of kidney NCI2004_11_17:C6975 Papillary renal cell carcinoma SNOMEDCT_2005_07_31:4797003 A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope. MESH:D002292 NCI:C4033 SNOMEDCT_US_2016_03_01:188251003 SNOMEDCT_US_2016_03_01:254915003 SNOMEDCT_US_2016_03_01:41607009 UMLS_CUI:C0279702 Clear cell carcinoma of kidney (disorder) clear cell kidney carcinoma conventional (Clear cell) renal cell carcinoma conventional renal cell carcinoma disease_ontology Clear-cell metastatic renal cell carcinoma DOID:4467 MESH:C538445 added from NeuroDevNet [WAK]. renal clear cell carcinoma A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope. URL:http://www.omnimedicalsearch.com/conditions-disease/renal-cell-carcinoma-overview-types.html url:http://cancergenome.nih.gov/cancersselected/kidneyclearcell url:http://www.cancer.gov/dictionary?CdrID=45063 Clear cell carcinoma of kidney (disorder) SNOMEDCT_2005_07_31:254915003 conventional (Clear cell) renal cell carcinoma MTH:NOCODE conventional renal cell carcinoma NCI2004_11_17:C4033 Clear-cell metastatic renal cell carcinoma MESH:C538445 An adenocarcinoma that derives_from epithelial cells which have clear cytoplasm. DOID:2617 DOID:4940 MESH:D008649 MESH:D018262 NCI:C36815 NCI:C3766 NCI:C4072 NCI:C4156 SNOMEDCT_US_2016_03_01:189633003 SNOMEDCT_US_2016_03_01:189861007 SNOMEDCT_US_2016_03_01:2221008 SNOMEDCT_US_2016_03_01:30546008 SNOMEDCT_US_2016_03_01:80727009 UMLS_CUI:C0025490 UMLS_CUI:C0206681 UMLS_CUI:C0334322 Clear cell adenocarcinoma (morphologic abnormality) Clear cell adenocarcinoma NOS (morphologic abnormality) Mesonephroid Clear cell carcinoma Mesonephroma NOS (morphologic abnormality) Mesonephroma, malignant (morphologic abnormality) Water-Clear cell adenocarcinoma Water-clear cell adenocarcinoma (morphologic abnormality) Water-clear cell carcinoma Wolffian duct neoplasm malignant Mesonephroma mesonephroma disease_ontology DOID:4468 clear cell adenocarcinoma An adenocarcinoma that derives_from epithelial cells which have clear cytoplasm. url:http://www.pathconsultddx.com/pathCon/diagnosis?pii=S1559-8675%2806%2970166-8 Clear cell adenocarcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:30546008 Clear cell adenocarcinoma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189633003 Mesonephroid Clear cell carcinoma NCI2004_11_17:C3766 Mesonephroma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189861007 Mesonephroma, malignant (morphologic abnormality) SNOMEDCT_2005_07_31:2221008 Water-Clear cell adenocarcinoma NCI2004_11_17:C4156 Water-clear cell adenocarcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:80727009 Wolffian duct neoplasm NCI2004_11_17:C6782 malignant Mesonephroma NCI2004_11_17:C4072 MESH:D015499 UMLS_CUI:C0035091 inborn renal tubular transport disorder disease_ontology DOID:447 renal tubular transport disease inborn renal tubular transport disorder CSP2005:1849-8301 A renal cell carcinoma that has_material_basis_in chromophobe cell that appear pale when viewed under microscope, but that are larger and display different features than clear cells. MESH:D002292 NCI:C4146 SNOMEDCT_US_2016_03_01:128667008 UMLS_CUI:C1266042 Chromophobe carcinoma of kidney chromophobe adenocarcinoma kidney chromophobe renal cell carcinoma, chromophobe cell disease_ontology DOID:4471 chromophobe renal cell carcinoma A renal cell carcinoma that has_material_basis_in chromophobe cell that appear pale when viewed under microscope, but that are larger and display different features than clear cells. URL:http://www.omnimedicalsearch.com/conditions-disease/renal-cell-carcinoma-overview-types.html url:http://cancergenome.nih.gov/cancersselected/ChromophobeRenalCellCarcinoma url:http://www.cancer.org/acs/groups/cid/documents/webcontent/003107-pdf.pdf Chromophobe carcinoma of kidney NCI2004_11_17:C4146 renal cell carcinoma, chromophobe cell SNOMEDCT_2005_07_31:128667008 NCI:C39807 UMLS_CUI:C1513719 disease_ontology DOID:4472 mucinous tubular and spindle renal cell carcinoma MESH:D002292 NCI:C27893 SNOMEDCT_US_2016_03_01:128668003 UMLS_CUI:C1266043 renal cell carcinoma, spindle cell disease_ontology DOID:4473 sarcomatoid renal cell carcinoma renal cell carcinoma, spindle cell SNOMEDCT_2005_07_31:128668003 Drug-induced dyskinesia Drug-induced dyskinesia (disorder) disease_ontology DOID:4478 drug-Induced dyskinesia true Drug-induced dyskinesia SNOMEDCT_2005_07_31:38941006 Drug-induced dyskinesia (disorder) SNOMEDCT_2005_07_31:102448004 MESH:D011546 NCI:C85034 SNOMEDCT_US_2016_03_01:77098009 UMLS_CUI:C0033805 disease_ontology DOID:4479 pseudohypoaldosteronism face neoplasm neoplasm of face (disorder) disease_ontology DOID:448 facial neoplasm true face neoplasm CSP2005:2005-4325 neoplasm of face (disorder) SNOMEDCT_2005_07_31:126632002 An osteochondrodysplasia that results_in dwarfism which has_material_basis_in abnormal ossification of cartilage in located_in long bone. ICD10CM:Q77.4 MESH:D000130 NCI:C34345 OMIM:100800 SNOMEDCT_US_2016_03_01:190584003 SNOMEDCT_US_2016_03_01:205467007 SNOMEDCT_US_2016_03_01:248299001 SNOMEDCT_US_2016_03_01:268273004 SNOMEDCT_US_2016_03_01:268350005 SNOMEDCT_US_2016_03_01:86268005 UMLS_CUI:C0001080 Achondroplastic physique Chondrodystrophia osteosclerosis congenita disease_ontology DOID:4480 OMIM mapping confirmed by DO. [SN]. achondroplasia An osteochondrodysplasia that results_in dwarfism which has_material_basis_in abnormal ossification of cartilage in located_in long bone. url:http://en.wikipedia.org/wiki/Achondroplasia url:http://ghr.nlm.nih.gov/condition/achondroplasia url:http://www.mayoclinic.com/health/dwarfism/DS01012/DSECTION%3Dsymptoms url:http://www.medicinenet.com/achondroplasia/article.htm url:http://www.nlm.nih.gov/medlineplus/ency/article/001577.htm Achondroplastic physique SNOMEDCT_2005_07_31:190584003 Chondrodystrophia MTHICD9_2006:756.4 osteosclerosis congenita CSP2005:2715-2940 A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites. DOID:12089 DOID:14030 DOID:8241 DOID:8242 EFO:0003956 NCI:C34987 OMIM:607154 SNOMEDCT_US_2016_03_01:38103000 UMLS_CUI:C0002103 Non-seasonal allergic rhinitis Perenial allergic rhinitis atopic rhinitis hay fever pollenosis seasonal allergic rhinitis disease_ontology DOID:4481 allergic rhinitis A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites. ls:IEDB url:http://en.wikipedia.org/wiki/Allergic_rhinitis url:http://en.wikipedia.org/wiki/Rhinitis url:http://www.aaaai.org/patients/resources/easy_reader/rhinitis.pdf url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=allergic%20rhinitis Non-seasonal allergic rhinitis SNOMEDCT_2005_07_31:38103000 Perenial allergic rhinitis SNOMEDCT_2005_07_31:266386004 pollenosis CSP2005:1524-8625 CSP2005:1525-2316 A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip. MESH:D012220 NCI:C34986 SNOMEDCT_US_2016_03_01:70076002 UMLS_CUI:C0035455 disease_ontology runny nose DOID:4483 rhinitis A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip. url:http://en.wikipedia.org/wiki/Rhinitis NCI:C4282 SNOMEDCT_US_2016_03_01:30383009 UMLS_CUI:C0334515 Mesothelioma, biphasic, malignant (morphologic abnormality) mixed Mesothelioma disease_ontology DOID:4486 malignant biphasic mesothelioma Mesothelioma, biphasic, malignant (morphologic abnormality) SNOMEDCT_2005_07_31:30383009 mixed Mesothelioma NCI2004_11_17:C4282 NCI:C45655 SNOMEDCT_US_2016_03_01:209241006 SNOMEDCT_US_2016_03_01:399477001 SNOMEDCT_US_2016_03_01:54443001 UMLS_CUI:C0334513 malignant fibrous Mesothelioma malignant fibrous mesothelioma (morphologic abnormality) sarcomatoid mesothelioma (morphologic abnormality) spindled mesothelioma disease_ontology DOID:4488 sarcomatoid mesothelioma malignant fibrous Mesothelioma NCI2004_11_17:C6747 malignant fibrous mesothelioma (morphologic abnormality) SNOMEDCT_2005_07_31:209241006 sarcomatoid mesothelioma (morphologic abnormality) SNOMEDCT_2005_07_31:399477001 spindled mesothelioma SNOMEDCT_2005_07_31:54443001 NCI:C7985 SNOMEDCT_US_2016_03_01:65278006 UMLS_CUI:C0862312 epithelioid mesothelioma, malignant (morphologic abnormality) disease_ontology DOID:4489 malignant epithelial mesothelioma epithelioid mesothelioma, malignant (morphologic abnormality) SNOMEDCT_2005_07_31:65278006 head neoplasm neoplasm of head (disorder) neoplasm of the head disease_ontology DOID:449 head neoplasm true head neoplasm CSP2005:2005-4325 neoplasm of head (disorder) SNOMEDCT_2005_07_31:126631009 Pleural and peritoneal Solitary fibrous tumor disease_ontology DOID:4490 malignant peritoneal solitary fibrous tumor Pleural and peritoneal Solitary fibrous tumor NCI2004_11_17:C6893 A syndrome affecting returning military veterans and civilian workers of the Gulf War. MESH:D018923 SNOMEDCT_US_2016_03_01:95877004 UMLS_CUI:C0282550 Gulf war syndrome (disorder) disease_ontology DOID:4491 persian gulf syndrome A syndrome affecting returning military veterans and civilian workers of the Gulf War. url:http://en.wikipedia.org/wiki/Gulf_War_syndrome Gulf war syndrome (disorder) SNOMEDCT_2005_07_31:95877004 An influenza that results_in infection located_in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus, which is transmitted_by contact with infected poultry. Five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress. ICD10CM:J09.X MESH:D005585 SNOMEDCT_US_2016_03_01:55604004 UMLS_CUI:C0016627 avian flu bird flu disease_ontology DOID:4492 avian influenza An influenza that results_in infection located_in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus, which is transmitted_by contact with infected poultry. Five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress. url:http://www.cdc.gov/flu/avian/gen-info/avian-flu-humans.htm url:http://www.who.int/mediacentre/factsheets/avian_influenza/en/index.html url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=avian%20influenza A (-)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Orthomyxoviridae family viruses, which are transmitted_by droplet spread of respiratory secretions or transmitted_by contaminated fomites. Orthomyxoviridae disease disease due to Orthomyxoviridae (disorder) disease_ontology DOID:4493 Orthomyxoviridae infectious disease true A (-)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Orthomyxoviridae family viruses, which are transmitted_by droplet spread of respiratory secretions or transmitted_by contaminated fomites. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Orthomyxoviridae Orthomyxoviridae disease CSP2005:3099-9876 disease due to Orthomyxoviridae (disorder) SNOMEDCT_2005_07_31:65093003 metastasis to the Cervix Uteri secondary malignant neoplasm of cervix uteri (disorder) secondary malignant neoplasm of uterine cervix (disorder) disease_ontology DOID:4496 metastatic malignant neoplasm to the cervix true metastasis to the Cervix Uteri NCI2004_11_17:C6385 secondary malignant neoplasm of cervix uteri (disorder) SNOMEDCT_2005_07_31:188469005 secondary malignant neoplasm of uterine cervix (disorder) SNOMEDCT_2005_07_31:94251007 disease_ontology DOID:4499 child nutrition disorder true A muscular dystrophy that is characterized by progressive muscle wasting and weakness. ICD10CM:G71.1 ICD9CM:359.2 MESH:D020967 NCI:C84913 SNOMEDCT_US_2016_03_01:155096007 SNOMEDCT_US_2016_03_01:193237003 SNOMEDCT_US_2016_03_01:193240003 SNOMEDCT_US_2016_03_01:267713009 UMLS_CUI:C0553604 disease_ontology DOID:450 myotonic disease A muscular dystrophy that is characterized by progressive muscle wasting and weakness. url:http://en.wikipedia.org/wiki/Myotonic_dystrophy url:http://ghr.nlm.nih.gov/condition/myotonic-dystrophy url:http://www.genome.gov/25521207 MESH:D007008 NCI:C34939 UMLS_CUI:C1514284 disease_ontology hypopotassemia potassium deficiency disorder DOID:4500 hypokalemia A genetic disease that is characterized by malformations of the face, oral cavity, and digits with polycystic kidney disease and variable involvement of the central nervous system and has_material_basis_in X-linked inheritance of an OFD gene. MESH:D009958 UMLS_CUI:C0029294 disease_ontology DOID:4501 Xref MGI. OMIM mapping confirmed by DO. [SN]. orofaciodigital syndrome A genetic disease that is characterized by malformations of the face, oral cavity, and digits with polycystic kidney disease and variable involvement of the central nervous system and has_material_basis_in X-linked inheritance of an OFD gene. url:http://en.wikipedia.org/wiki/Orofaciodigital_syndrome relapsed hemangiosarcoma disease_ontology DOID:4502 relapsed angiosarcoma true relapsed hemangiosarcoma NCI2004_11_17:C5384 A central nervous system sarcoma that is located_in the inner lining of blood vessels. NCI:C5450 UMLS_CUI:C1332875 hemangiosarcoma of the CNS disease_ontology DOID:4504 central nervous system angiosarcoma A central nervous system sarcoma that is located_in the inner lining of blood vessels. url:http://thejns.org/doi/abs/10.3171/jns.1991.75.1.0073 hemangiosarcoma of the CNS NCI2004_11_17:C5450 An angiosarcoma that affects children. NCI:C9174 UMLS_CUI:C0279988 pediatric hemangiosarcoma disease_ontology DOID:4505 pediatric angiosarcoma An angiosarcoma that affects children. url:http://findarticles.com/p/articles/mi_qa3725/is_201003/ai_n53080216/ pediatric hemangiosarcoma NCI2004_11_17:C9174 disease_ontology DOID:4509 angiosarcoma associated with lymphedema true An angiosarcoma that is located_in the aorta. NCI:C5376 UMLS_CUI:C1332312 Aortic hemangiosarcoma disease_ontology DOID:4510 aorta angiosarcoma An angiosarcoma that is located_in the aorta. url:http://icvts.ctsnetjournals.org/cgi/content/full/6/6/832 Aortic hemangiosarcoma NCI2004_11_17:C5376 An angiosarcoma and sarcoma of breast and vascular neoplasm of breast that is located_in the cells that line the blood vessels within the breast or underarm area. MESH:C536368 NCI:C5184 UMLS_CUI:C1332614 hemangiosarcoma of the breast disease_ontology DOID:4511 breast angiosarcoma An angiosarcoma and sarcoma of breast and vascular neoplasm of breast that is located_in the cells that line the blood vessels within the breast or underarm area. url:http://breastcancer.about.com/od/types/p/angiosarcoma.htm hemangiosarcoma of the breast NCI2004_11_17:C5184 NCI:C9426 UMLS_CUI:C1333155 disease_ontology DOID:4512 conventional angiosarcoma An angiosarcoma and gallbladder sarcoma that is located_in the gallbladder. NCI:C5840 UMLS_CUI:C1333742 hemangiosarcoma of gallbladder disease_ontology DOID:4513 gallbladder angiosarcoma An angiosarcoma and gallbladder sarcoma that is located_in the gallbladder. url:http://www.ncbi.nlm.nih.gov/pubmed/15861270 hemangiosarcoma of gallbladder NCI2004_11_17:C5840 A thyroid sarcoma and angiosarcoma that results_in a high prevalence of iodine-deficient goiter. NCI:C6043 UMLS_CUI:C1336748 hemangiosarcoma of the Thyroid disease_ontology DOID:4514 thyroid angiosarcoma A thyroid sarcoma and angiosarcoma that results_in a high prevalence of iodine-deficient goiter. url:http://www.pathologyoutlines.com/thyroid.html hemangiosarcoma of the Thyroid NCI2004_11_17:C6043 A thyroid cancer that is located_in the supporting cells of the thyroid. NCI:C6041 UMLS_CUI:C1336756 sarcoma of the Thyroid gland disease_ontology DOID:4515 thyroid sarcoma A thyroid cancer that is located_in the supporting cells of the thyroid. url:http://www.cancer.org/docroot/CRI/content/CRI_2_4_1X_What_is_thyroid_cancer_43.asp sarcoma of the Thyroid gland NCI2004_11_17:C6041 An angiosarcoma and hemangioma of skin and malignant skin vascular tumor and sarcoma of skin that is located_in the skin and results_in an enlarged bruise (a blue-black nodule) and an unhealed ulceration. NCI:C4489 SNOMEDCT_US_2016_03_01:254794007 UMLS_CUI:C0346081 angiosarcoma of skin (disorder) hemangiosarcoma of the skin disease_ontology DOID:4517 skin angiosarcoma An angiosarcoma and hemangioma of skin and malignant skin vascular tumor and sarcoma of skin that is located_in the skin and results_in an enlarged bruise (a blue-black nodule) and an unhealed ulceration. url:http://ezinearticles.com/?Symptoms-of-Angiosarcoma&id=2101634 angiosarcoma of skin (disorder) SNOMEDCT_2005_07_31:254794007 hemangiosarcoma of the skin NCI2004_11_17:C4489 A gastrointestinal benign neoplasm that is a located_in the salivary glands. MESH:D008949 NCI:C35691 NCI:C8602 OMIM:181030 SNOMEDCT_US_2016_03_01:8360001 UMLS_CUI:C0026277 Pleomorphic adenoma Pleomorphic adenoma (morphologic abnormality) mixed tumor of the Salivary gland disease_ontology DOID:452 pleomorphic adenoma A gastrointestinal benign neoplasm that is a located_in the salivary glands. url:http://en.wikipedia.org/wiki/Pleomorphic_adenoma Pleomorphic adenoma NCI2004_11_17:C8602 Pleomorphic adenoma (morphologic abnormality) SNOMEDCT_2005_07_31:8360001 mixed tumor of the Salivary gland NCI2004_11_17:C35691 NCI:C40220 UMLS_CUI:C3642326 endometrial stromal sarcoma of the cervix disease_ontology DOID:4520 cervical endometrial stromal sarcoma NCI:C40218 UMLS_CUI:C3642325 disease_ontology DOID:4521 cervix endometrial stromal tumor NCI:C5378 UMLS_CUI:C1336530 angiosarcoma of the Superior Vena Cava disease_ontology DOID:4522 superior vena cava angiosarcoma angiosarcoma of the Superior Vena Cava NCI2004_11_17:C5378 An angiosarcoma and sarcoma of prostate that is located_in the prostate. NCI:C5528 UMLS_CUI:C1335504 Prostatic hemangiosarcoma disease_ontology DOID:4524 prostate angiosarcoma An angiosarcoma and sarcoma of prostate that is located_in the prostate. url:http://informahealthcare.com/doi/abs/10.3109/00313029009063790?journalCode=pat Prostatic hemangiosarcoma NCI2004_11_17:C5528 An angiosarcoma and sarcoma of the mediastinum that is located_in the mediastinum. NCI:C6613 UMLS_CUI:C1334649 hemangiosarcoma of mediastinum disease_ontology DOID:4525 mediastinum angiosarcoma An angiosarcoma and sarcoma of the mediastinum that is located_in the mediastinum. url:http://meeting.chestpubs.org/cgi/content/abstract/124/4/286S hemangiosarcoma of mediastinum NCI2004_11_17:C6613 NCI:C5232 UMLS_CUI:C1335152 hemangiosarcoma of Ovary disease_ontology DOID:4527 ovarian angiosarcoma hemangiosarcoma of Ovary NCI2004_11_17:C5232 A salivary gland carcinoma that is characterized by squamous cells, mucus-secreting cells, and intermediate cells. MESH:D018277 NCI:C3772 SNOMEDCT_US_2016_03_01:4079000 UMLS_CUI:C0206694 MEC Mucoepidermoid carcinoma (morphologic abnormality) disease_ontology DOID:4531 mucoepidermoid carcinoma A salivary gland carcinoma that is characterized by squamous cells, mucus-secreting cells, and intermediate cells. url:http://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma MEC NCI2004_11_17:C3772 Mucoepidermoid carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:4079000 A syndrome that affects growth, cranial development, hair growth and dental development. MESH:D006210 NCI:C84746 OMIM:234100 ORDO:2108 SNOMEDCT_US_2016_03_01:205417000 SNOMEDCT_US_2016_03_01:7903009 UMLS_CUI:C0018522 Francois dyscephalic syndrome Hallerman - Streiff syndrome Hallermann's syndrome disease_ontology DOID:4534 OMIM mapping confirmed by DO. [SN]. Hallermann-Streiff syndrome A syndrome that affects growth, cranial development, hair growth and dental development. url:http://en.wikipedia.org/wiki/Hallermann-Streiff_syndrome Hallerman - Streiff syndrome SNOMEDCT_2005_07_31:205417000 A hair disease that is characterized by sparse hair on the scalp resulting from abnormal hair follicle development and has_material_basis in mutations in proteins involved in hair growth, division or proliferation of cells within hair follicles. MESH:D007039 NCI:C34720 OMIM:PS605389 ORDO:55654 SNOMEDCT_US_2016_03_01:53602002 SNOMEDCT_US_2016_03_01:56558005 UMLS_CUI:C0020678 disease_ontology DOID:4535 Xref MGI. hypotrichosis A hair disease that is characterized by sparse hair on the scalp resulting from abnormal hair follicle development and has_material_basis in mutations in proteins involved in hair growth, division or proliferation of cells within hair follicles. url:http://en.wikipedia.org/wiki/Hypotrichosis url:http://ghr.nlm.nih.gov/condition/autosomal-recessive-hypotrichosis disease_ontology DOID:4539 merged labyrinthine disease into inner ear disease [LS] obsolete labyrinthine disease true A writing disorder that involves a deficiency in the ability to write where the writing is distorted or incorrect, spelling difficulty, poor handwriting or trouble putting thoughts on paper. ICD10CM:R48.8 MESH:D000381 SNOMEDCT_US_2016_03_01:158321001 SNOMEDCT_US_2016_03_01:206990000 SNOMEDCT_US_2016_03_01:27206009 UMLS_CUI:C0001825 disease_ontology DOID:4540 dysgraphia A writing disorder that involves a deficiency in the ability to write where the writing is distorted or incorrect, spelling difficulty, poor handwriting or trouble putting thoughts on paper. url:http://en.wikipedia.org/wiki/Dysgraphia url:http://www.ncld.org/ld-basics/ld-aamp-language/written-expression/dysgraphia url:http://www.ninds.nih.gov/disorders/dysgraphia/dysgraphia.htm An agnosia that involves a severe problem with recalling words or names. MESH:D000849 NCI:C34386 SNOMEDCT_US_2016_03_01:10325006 UMLS_CUI:C0003113 Anomic aphasia (finding) anomia disease_ontology DOID:4541 nominal aphasia An agnosia that involves a severe problem with recalling words or names. url:http://en.wikipedia.org/wiki/Nominal_aphasia Anomic aphasia (finding) SNOMEDCT_2005_07_31:10325006 anomia CSP2005:1579-3166 MESH:D000237 NCI:C2856 SNOMEDCT_US_2016_03_01:9436005 UMLS_CUI:C0001431 Pituitary gland Basophilic adenoma disease_ontology DOID:4542 basophil adenoma Pituitary gland Basophilic adenoma NCI2004_11_17:C2856 An amnestic disorder that involves a loss of one's pre-existing memories to conscious recollection. ICD10CM:R41.2 MESH:D000648 NCI:C34372 SNOMEDCT_US_2016_03_01:158178004 SNOMEDCT_US_2016_03_01:206784007 SNOMEDCT_US_2016_03_01:51921000 UMLS_CUI:C0002624 disease_ontology DOID:4543 retrograde amnesia An amnestic disorder that involves a loss of one's pre-existing memories to conscious recollection. url:http://en.wikipedia.org/wiki/Amnesia MESH:D018211 NCI:C3737 SNOMEDCT_US_2016_03_01:56565002 UMLS_CUI:C0206637 disease_ontology DOID:4545 mesenchymal chondrosarcoma NCI:C27374 UMLS_CUI:C1332982 disease_ontology DOID:4546 pediatric mesenchymal chondrosarcoma An adult sarcoma of soft tissue and mesenchymal chondrosarcoma that is located_in the cartilage. NCI:C27375 UMLS_CUI:C1332207 disease_ontology DOID:4547 adult mesenchymal chondrosarcoma An adult sarcoma of soft tissue and mesenchymal chondrosarcoma that is located_in the cartilage. url:http://sarcomahelp.org/learning_center/mesenchymal_chondrosarcoma.html NCI:C27481 SNOMEDCT_US_2016_03_01:404080006 UMLS_CUI:C1275279 extraskeletal mesenchymal chondrosarcoma (disorder) mesenchymal extraosseous chondrosarcoma disease_ontology DOID:4548 extraskeletal mesenchymal chondrosarcoma extraskeletal mesenchymal chondrosarcoma (disorder) SNOMEDCT_2005_07_31:404080006 mesenchymal extraosseous chondrosarcoma NCI2004_11_17:C27481 A chondrosarcoma that is located_in exclusively soft tissue. disease_ontology DOID:4549 extraosseous chondrosarcoma A chondrosarcoma that is located_in exclusively soft tissue. url:http://www.ncbi.nlm.nih.gov/pubmed/16084955 MESH:D000694 UMLS_CUI:C0002757 disease_ontology DOID:4550 anal gland neoplasm MESH:D001005 NCI:C2877 SNOMEDCT_US_2016_03_01:126849006 UMLS_CUI:C0003463 anal neoplasm anal tumors neoplasm of anus disease_ontology DOID:4551 anus neoplasm anal neoplasm CSP2005:2010-1432 anal tumors NCI2004_11_17:C2877 neoplasm of anus SNOMEDCT_2005_07_31:126849006 A carcinoma that is composed of large, monotonous rounded or overtly polygonal-shaped cells with abundant cytoplasm. MESH:D018287 NCI:C3780 SNOMEDCT_US_2016_03_01:189551005 SNOMEDCT_US_2016_03_01:22687000 UMLS_CUI:C0206704 disease_ontology DOID:4552 large cell carcinoma A carcinoma that is composed of large, monotonous rounded or overtly polygonal-shaped cells with abundant cytoplasm. url:http://chemo.net/large.htm url:http://en.wikipedia.org/wiki/Carcinoma NCI:C6461 UMLS_CUI:C1334364 large cell carcinoma of the Thymus disease_ontology DOID:4553 thymus large cell carcinoma large cell carcinoma of the Thymus NCI2004_11_17:C6461 NCI:C7569 SNOMEDCT_US_2016_03_01:128717008 SNOMEDCT_US_2016_03_01:444374006 UMLS_CUI:C1322286 Thymoma, type C (morphologic abnormality) disease_ontology DOID:4554 type C thymoma Thymoma, type C (morphologic abnormality) SNOMEDCT_2005_07_31:128717008 NCI:C5238 UMLS_CUI:C1335174 Non-small-cell type neuroendocrine carcinoma of Ovary disease_ontology DOID:4555 ovarian large-cell neuroendocrine carcinoma Non-small-cell type neuroendocrine carcinoma of Ovary NCI2004_11_17:C5238 NCI:C4450 SNOMEDCT_US_2016_03_01:254629004 UMLS_CUI:C0345958 large cell carcinoma of lung (disorder) large cell lung carcinoma disease_ontology DOID:4556 lung large cell carcinoma large cell carcinoma of lung (disorder) SNOMEDCT_2005_07_31:254629004 large cell lung carcinoma NCI2004_11_17:C4450 MESH:D007967 SNOMEDCT_US_2016_03_01:67795000 UMLS_CUI:C0023523 Leukedema of mouth disease_ontology DOID:4557 oral leukoedema Leukedema of mouth SNOMEDCT_2005_07_31:67795000 MESH:D008158 SNOMEDCT_US_2016_03_01:196542004 SNOMEDCT_US_2016_03_01:54572003 UMLS_CUI:C0024081 Ludwig angina cellulitis of floor of mouth disease_ontology DOID:4558 Ludwig's angina cellulitis of floor of mouth MTHICD9_2006:528.3 A parasitic helminthiasis infectious disease that involves infection of the intestine with the nematode Ascaris lumbricoides. Larvae migrating through the lungs cause cough, wheezing and hemoptysis. Bowel or biliary obstruction causes cramping abdominal pain, nausea, and vomiting. Peritonitis, enlargement of the liver or spleen, toxicity and pneumonia are observed when larvae get into the portal circulation. CSP:1248-7284 ICD10CM:B77 ICD10CM:B77.9 ICD9CM:127.0 MESH:D001196 SNOMEDCT_US_2016_03_01:154411000 SNOMEDCT_US_2016_03_01:187172007 SNOMEDCT_US_2016_03_01:187536006 SNOMEDCT_US_2016_03_01:2435008 SNOMEDCT_US_2016_03_01:271435007 UMLS_CUI:C0003950 Ascariasis - roundworm disease_ontology Ascaris lumbricoides infection DOID:456 ascariasis A parasitic helminthiasis infectious disease that involves infection of the intestine with the nematode Ascaris lumbricoides. Larvae migrating through the lungs cause cough, wheezing and hemoptysis. Bowel or biliary obstruction causes cramping abdominal pain, nausea, and vomiting. Peritonitis, enlargement of the liver or spleen, toxicity and pneumonia are observed when larvae get into the portal circulation. url:http://en.wikipedia.org/wiki/Ascariasis url:http://www.dpd.cdc.gov/DPDx/HTML/Ascariasis.htm url:http://www.merck.com/mmpe/sec14/ch182/ch182d.html?qt=ascariasis&alt=sh Ascariasis - roundworm SNOMEDCT_2005_07_31:271435007 NCI:C27625 UMLS_CUI:C1335061 disease_ontology DOID:4560 non specific chronic endometritis NCI:C27626 UMLS_CUI:C1333876 disease_ontology DOID:4561 granulomatous endometritis MESH:D004698 NCI:C34583 SNOMEDCT_US_2016_03_01:155334001 SNOMEDCT_US_2016_03_01:194923008 SNOMEDCT_US_2016_03_01:50194006 SNOMEDCT_US_2016_03_01:73774007 UMLS_CUI:C0014122 Endocarditis lenta SBE - Subacute bacterial endocarditis Subacute bacterial endocarditis Subacute bacterial endocarditis (disorder) Subacute endocarditis, lenta disease_ontology DOID:4562 subacute bacterial endocarditis Endocarditis lenta SNOMEDCT_2005_07_31:50194006 SBE - Subacute bacterial endocarditis SNOMEDCT_2005_07_31:194923008 Subacute bacterial endocarditis SNOMEDCT_2005_07_31:155334001 Subacute bacterial endocarditis (disorder) SNOMEDCT_2005_07_31:73774007 Subacute endocarditis, lenta MTHICD9_2006:421.0 A Chromadorea infectious disease that involves infection of humans and domestic animals by parasitic roundworms with three lips on the anteriour end. disease_ontology DOID:457 Ascaridida infectious disease true A Chromadorea infectious disease that involves infection of humans and domestic animals by parasitic roundworms with three lips on the anteriour end. url:http://en.wikipedia.org/wiki/Ascaridida disease_ontology DOID:4582 metastatic meningioma true disease_ontology DOID:4583 deletion of short arm of chromosome 1 (1p) associated meningioma true NCI:C4719 SNOMEDCT_US_2016_03_01:253082002 UMLS_CUI:C0431118 Choroid meningioma (morphologic abnormality) meningioma of the Choroid Plexus disease_ontology DOID:4584 choroid plexus meningioma Choroid meningioma (morphologic abnormality) SNOMEDCT_2005_07_31:253082002 meningioma of the Choroid Plexus NCI2004_11_17:C4719 disease_ontology DOID:4585 relapsed meningioma true MESH:C537443 NCI:C5301 OMIM:607174 UMLS_CUI:C1333989 disease_ontology DOID:4586 OMIM mapping confirmed by DO. [SN]. familial meningioma MESH:D008579 NCI:C4055 UMLS_CUI:C0281784 meningioma, benign disease_ontology DOID:4587 benign meningioma meningioma, benign NCI2004_11_17:C4055 MESH:D008579 NCI:C4718 SNOMEDCT_US_2016_03_01:19453003 SNOMEDCT_US_2016_03_01:253081009 UMLS_CUI:C1384406 Secretory meningioma Secretory meningioma (morphologic abnormality) disease_ontology DOID:4588 secretory meningioma Secretory meningioma NCI2004_11_17:C4718 Secretory meningioma (morphologic abnormality) SNOMEDCT_2005_07_31:253081009 disease_ontology DOID:4589 deletion of chromosome 22 associated meningioma true meningiomatosis meningiomatosis (morphologic abnormality) meningiomatosis NOS (morphologic abnormality) disease_ontology DOID:4590 multiple meningiomas true meningiomatosis NCI2004_11_17:C3707 meningiomatosis (morphologic abnormality) SNOMEDCT_2005_07_31:40935003 meningiomatosis NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189942007 NCI:C4720 SNOMEDCT_US_2016_03_01:19453003 SNOMEDCT_US_2016_03_01:253083007 UMLS_CUI:C0431119 Lymphoplasmacyte-Rich meningioma Lymphoplasmocyte-rich meningioma (morphologic abnormality) disease_ontology DOID:4591 lymphoplasmacyte-rich meningioma Lymphoplasmacyte-Rich meningioma NCI2004_11_17:C4720 Lymphoplasmocyte-rich meningioma (morphologic abnormality) SNOMEDCT_2005_07_31:253083007 NCI:C8264 UMLS_CUI:C0280656 disease_ontology DOID:4593 pediatric meningioma MESH:D008579 NCI:C4721 SNOMEDCT_US_2016_03_01:19453003 SNOMEDCT_US_2016_03_01:253084001 UMLS_CUI:C1384408 Microcystic meningioma Microcystic meningioma (morphologic abnormality) disease_ontology DOID:4594 microcystic meningioma Microcystic meningioma NCI2004_11_17:C4721 Microcystic meningioma (morphologic abnormality) SNOMEDCT_2005_07_31:253084001 disease_ontology DOID:4595 adult meningioma true neoplasm of adult CNS disease_ontology DOID:4596 central nervous system adult tumor true neoplasm of adult CNS NCI2004_11_17:C5131 disease_ontology DOID:4598 deletion of chromosome 3p associated meningioma true ICD10CM:Q80.3 MESH:D017488 NCI:C62569 OMIM:113800 SNOMEDCT_US_2016_03_01:20512000 SNOMEDCT_US_2016_03_01:239071005 SNOMEDCT_US_2016_03_01:254167000 UMLS_CUI:C0079153 Bullous ichthyosiform erythroderma (disorder) Epidermolytic palmoplantar hyperkeratosis bullous congenital ichthyosiform erythroderma disease_ontology DOID:4603 OMIM mapping confirmed by DO. [SN]. epidermolytic hyperkeratosis Bullous ichthyosiform erythroderma (disorder) SNOMEDCT_2005_07_31:254167000 Epidermolytic palmoplantar hyperkeratosis SNOMEDCT_2005_07_31:239071005 A biliary tract cancer that is located_in the bile duct. DOID:10019 ICD10CM:C24.0 ICD9CM:156.1 MESH:D001650 NCI:C2898 NCI:C7483 SNOMEDCT_US_2016_03_01:154473009 SNOMEDCT_US_2016_03_01:187787007 SNOMEDCT_US_2016_03_01:363416002 SNOMEDCT_US_2016_03_01:93790004 UMLS_CUI:C0005396 UMLS_CUI:C0153453 Ca extrahepatic bile ducts bile duct tumor malignant neoplasm of the extrahepatic bile duct disease_ontology DOID:4606 bile duct cancer A biliary tract cancer that is located_in the bile duct. url:http://www.cancer.gov/dictionary/?CdrID=527370 Ca extrahepatic bile ducts SNOMEDCT_2005_07_31:154473009 bile duct tumor NCI2004_11_17:C2898 malignant neoplasm of the extrahepatic bile duct NCI2004_11_17:C7483 A gastrointestinal system cancer that results_in malignant growth located_in the gallbladder or located_in the bile duct. DOID:8092 ICD10CM:C24.9 ICD9CM:156.9 MESH:D001661 SNOMEDCT_US_2016_03_01:126853008 SNOMEDCT_US_2016_03_01:363415003 SNOMEDCT_US_2016_03_01:93688006 UMLS_CUI:C0005426 UMLS_CUI:C0750952 malignant tumour of biliary tract disease_ontology DOID:4607 biliary tract cancer A gastrointestinal system cancer that results_in malignant growth located_in the gallbladder or located_in the bile duct. url:http://en.wikipedia.org/wiki/Biliary_tract_cancer malignant tumour of biliary tract SNOMEDCT_2005_07_31:93688006 MESH:D003138 SNOMEDCT_US_2016_03_01:126857009 UMLS_CUI:C0009442 neoplasm of common bile duct (disorder) disease_ontology DOID:4608 common bile duct neoplasm neoplasm of common bile duct (disorder) SNOMEDCT_2005_07_31:126857009 DOID:2692 MESH:D009379 MESH:D019042 NCI:C4063 SNOMEDCT_US_2016_03_01:115228006 SNOMEDCT_US_2016_03_01:126616000 SNOMEDCT_US_2016_03_01:134329004 SNOMEDCT_US_2016_03_01:189786009 SNOMEDCT_US_2016_03_01:189801005 UMLS_CUI:C0027664 UMLS_CUI:C0282606 Myomatous neoplasm Myomatous tumor muscle neoplasm muscle tissue neoplasm neoplasm of muscle (disorder) disease_ontology DOID:461 muscle benign neoplasm Myomatous neoplasm SNOMEDCT_2005_07_31:189786009 Myomatous tumor NCI2004_11_17:C4063 muscle neoplasm CSP2005:2011-3484 neoplasm of muscle (disorder) SNOMEDCT_2005_07_31:126616000 A gastrointestinal system benign neoplasm that is located_in the intestine. MESH:D007414 NCI:C3141 SNOMEDCT_US_2016_03_01:126769007 UMLS_CUI:C0021841 intestinal tumors intestine growth neoplasm of intestinal tract disease_ontology DOID:4610 intestinal benign neoplasm A gastrointestinal system benign neoplasm that is located_in the intestine. url:http://en.wikipedia.org/wiki/Benign_tumor intestinal tumors NCI2004_11_17:C3141 intestine growth CSP2005:2010-1074 neoplasm of intestinal tract SNOMEDCT_2005_07_31:126769007 MESH:D020424 SNOMEDCT_US_2016_03_01:359837005 SNOMEDCT_US_2016_03_01:367399005 SNOMEDCT_US_2016_03_01:394515001 SNOMEDCT_US_2016_03_01:395205004 SNOMEDCT_US_2016_03_01:55802003 UMLS_CUI:C0154743 Ulnar neuropathy Ulnar neuropathy (disorder) Ulnar neuropathy (disorder) [Ambiguous] disease_ontology DOID:4613 ulnar neuropathy Ulnar neuropathy SNOMEDCT_2005_07_31:367399005 Ulnar neuropathy SNOMEDCT_2005_07_31:394515001 Ulnar neuropathy SNOMEDCT_2005_07_31:395205004 Ulnar neuropathy (disorder) SNOMEDCT_2005_07_31:359837005 Ulnar neuropathy (disorder) [Ambiguous] SNOMEDCT_2005_07_31:55802003 carcinoma of unknown primary disease_ontology DOID:4615 carcinoma of unknown primary true carcinoma of unknown primary NCI2004_11_17:C3812 A bovine respiratory disease complex defined as an acute, noncontagious respiratory distress caused 5-10days after change to a better, often lush, pasture. Metabolites of the naturally occurring amino acid L-tryptophan probably are responsible for the disease. Severely affected cattle show extensive respiratory distress with mouth breathing, extension of the tongue, and drooling. There is extensive edema and emphysema, often with the formation of large air-filled bullae in interlobular and subpleural regions of the lung. Atypical interstitial pneumonia of cattle (disorder) Fog fever acute bovine pulmonary emphysema AND edema (disorder) disease_ontology DOID:4616 bovine atypical interstitial pneumonia true A bovine respiratory disease complex defined as an acute, noncontagious respiratory distress caused 5-10days after change to a better, often lush, pasture. Metabolites of the naturally occurring amino acid L-tryptophan probably are responsible for the disease. Severely affected cattle show extensive respiratory distress with mouth breathing, extension of the tongue, and drooling. There is extensive edema and emphysema, often with the formation of large air-filled bullae in interlobular and subpleural regions of the lung. url:http://merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/121221.htm&hide=1 url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1789549/pdf/canvetj00318-0047.pdf Atypical interstitial pneumonia of cattle (disorder) SNOMEDCT_2005_07_31:15341009 acute bovine pulmonary emphysema AND edema (disorder) SNOMEDCT_2005_07_31:20606002 MESH:D010484 SNOMEDCT_US_2016_03_01:196344002 SNOMEDCT_US_2016_03_01:81407003 UMLS_CUI:C0031029 Apical granuloma (disorder) Periapical granuloma disease_ontology DOID:4617 periapical granuloma Apical granuloma (disorder) SNOMEDCT_2005_07_31:81407003 Periapical granuloma SNOMEDCT_2005_07_31:196344002 A jaw cancer and maxillary disease that effects the maxilla or upper jaw. MESH:D008441 SNOMEDCT_US_2016_03_01:126550004 UMLS_CUI:C0024954 disease_ontology maxillary neoplasm upper jaw bone cancer DOID:4618 maxillary neoplasm A jaw cancer and maxillary disease that effects the maxilla or upper jaw. url:http://www.vitals.com/disorders/ny-new_york-musculoskeletal_diseases-c05-upper_jaw_bone_cancer_maxillary_neoplasm-8094.html A cancer that affects an anatomical entity. DOID:8996 malignant neoplasm of aortic body and other paraganglia malignant neoplasm of aortic body and other paraganglia (disorder) disease_ontology DOID:462 cancer by anatomical entity true A cancer that affects an anatomical entity. DO:lh malignant neoplasm of aortic body and other paraganglia (disorder) SNOMEDCT_2005_07_31:188343003 A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies. ICD10CM:Q04.2 MESH:D016142 NCI:C74988 ORDO:2162 SNOMEDCT_US_2016_03_01:30915001 SNOMEDCT_US_2016_03_01:44519006 UMLS_CUI:C0079541 Holoprosencephaly sequence (disorder) disease_ontology DOID:4621 Xref MGI. OMIM mapping confirmed by DO. [SN]. holoprosencephaly A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies. url:http://en.wikipedia.org/wiki/Holoprosencephaly url:http://www.ncbi.nlm.nih.gov/books/NBK1530/ Holoprosencephaly sequence (disorder) SNOMEDCT_2005_07_31:30915001 A syndrome that is characterized by an asymmetric distribution of cartilagenous tumors, which may lead to skeletal deformities and limb-length discrepancy. This condition primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where the shaft and head of a long bone meet. ICD10CM:Q78.4 MESH:D004687 NCI:C3213 OMIM:166000 ORDO:296 SNOMEDCT_US_2016_03_01:205470006 SNOMEDCT_US_2016_03_01:234135008 SNOMEDCT_US_2016_03_01:46041001 UMLS_CUI:C0024454 DYSCHONDROPLASIA ENCHONDROMATOSIS, MULTIPLE Enchondromatosis with haemangiomata Kast's syndrome OSTEOCHONDROMATOSIS disease_ontology DOID:4624 OMIM mapping confirmed by DO. [SN]. Ollier disease A syndrome that is characterized by an asymmetric distribution of cartilagenous tumors, which may lead to skeletal deformities and limb-length discrepancy. This condition primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where the shaft and head of a long bone meet. url:http://en.wikipedia.org/wiki/Ollier_disease url:http://rarediseases.info.nih.gov/GARD/Condition/7251/Ollier_disease.aspx Enchondromatosis with haemangiomata SNOMEDCT_2005_07_31:234135008 Kast's syndrome SNOMEDCT_2005_07_31:205470006 Enchondromatosis (disorder) Ollier disease Ollier's disease disease_ontology DOID:4625 enchondromatosis true Enchondromatosis (disorder) SNOMEDCT_2005_07_31:268274005 Ollier disease SNOMEDCT_2005_07_31:16535008 Ollier's disease MTHICD9_2006:756.4 Ollier's disease NCI2004_11_17:C3008 Ollier's disease SNOMEDCT_2005_07_31:205469005 ICD10CM:Q04.3 MESH:D006832 NCI:C98949 SNOMEDCT_US_2016_03_01:30023002 UMLS_CUI:C0020225 disease_ontology DOID:4626 hydranencephaly MESH:D020240 SNOMEDCT_US_2016_03_01:229706001 SNOMEDCT_US_2016_03_01:333633007 SNOMEDCT_US_2016_03_01:334621009 SNOMEDCT_US_2016_03_01:39746003 UMLS_CUI:C0234523 Classic apraxia (finding) [Ambiguous] Ideomotor dyspraxia (disorder) Limb-kinetic apraxia (finding) Transcortical apraxia (finding) disease_ontology DOID:4627 ideomotor apraxia Classic apraxia (finding) [Ambiguous] SNOMEDCT_2005_07_31:39746003 Ideomotor dyspraxia (disorder) SNOMEDCT_2005_07_31:229706001 Limb-kinetic apraxia (finding) SNOMEDCT_2005_07_31:334621009 Transcortical apraxia (finding) SNOMEDCT_2005_07_31:333633007 A viral infectious disease that results_in infection causing reproductive failure of sows and respiratory problems of piglets and growing pigs, has_material_basis_in Porcine reproductive and respiratory syndrome virus, which is transmitted_by contact with feces, urine and semen of infected pigs, and transmitted_by fomites. The infection has_symptom stillborn piglets, has_symptom mummified fetuses, has_symptom premature farrowings, has_symptom weak-born pigs, and has_symptom pneumonia. disease_ontology DOID:4629 porcine reproductive and respiratory syndrome true A viral infectious disease that results_in infection causing reproductive failure of sows and respiratory problems of piglets and growing pigs, has_material_basis_in Porcine reproductive and respiratory syndrome virus, which is transmitted_by contact with feces, urine and semen of infected pigs, and transmitted_by fomites. The infection has_symptom stillborn piglets, has_symptom mummified fetuses, has_symptom premature farrowings, has_symptom weak-born pigs, and has_symptom pneumonia. url:http://www.merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/54100.htm url:http://www.oie.int/eng/normes/mmanual/2008/pdf/2.08.07_PRRS.pdf NCI:C4118 SNOMEDCT_US_2016_03_01:46580000 UMLS_CUI:C0334269 transitional papilloma, inverted disease_ontology DOID:4630 inverted transitional papilloma transitional papilloma, inverted SNOMEDCT_2005_07_31:46580000 Inverting papilloma of Accessory sinus disease_ontology DOID:4631 inverted papilloma of paranasal sinus true Inverting papilloma of Accessory sinus NCI2004_11_17:C8195 NCI:C8194 UMLS_CUI:C0280336 Inverting papilloma of the nasal cavity disease_ontology DOID:4633 nasal cavity inverting papilloma Inverting papilloma of the nasal cavity NCI2004_11_17:C8194 NCI:C27016 SNOMEDCT_US_2016_03_01:15170009 UMLS_CUI:C0235591 Submandibular Lymphadenitis Submandibular lymphadenitis (disorder) disease_ontology DOID:4636 submandibular adenitis Submandibular Lymphadenitis NCI2004_11_17:C27016 Submandibular lymphadenitis (disorder) SNOMEDCT_2005_07_31:15170009 NCI:C26937 SNOMEDCT_US_2016_03_01:3502005 UMLS_CUI:C0149642 cervical Lymphadenitis cervical lymphadenitis (disorder) disease_ontology DOID:4637 cervical adenitis cervical Lymphadenitis NCI2004_11_17:C26937 cervical lymphadenitis (disorder) SNOMEDCT_2005_07_31:3502005 NCI:C27332 UMLS_CUI:C0919638 disease_ontology DOID:4638 postauricular lymphadenitis NCI:C27135 SNOMEDCT_US_2016_03_01:48573006 UMLS_CUI:C0392051 Suppurative lymphadenopathy (disorder) disease_ontology DOID:4639 suppurative lymphadenitis Suppurative lymphadenopathy (disorder) SNOMEDCT_2005_07_31:48573006 NCI:C27333 UMLS_CUI:C0919797 disease_ontology DOID:4640 axillary adenitis disease_ontology DOID:4641 Bacteroides infectious disease true ICD10CM:Q81.0 MESH:D016110 NCI:C84692 OMIM:601001 OMIM:615425 SNOMEDCT_US_2016_03_01:205585003 SNOMEDCT_US_2016_03_01:67144006 UMLS_CUI:C0079298 Epidermolysis bullosa simplex Epidermolysis bullosa simplex (disorder) disease_ontology DOID:4644 epidermolysis bullosa simplex Epidermolysis bullosa simplex SNOMEDCT_2005_07_31:205585003 Epidermolysis bullosa simplex (disorder) SNOMEDCT_2005_07_31:67144006 DOID:770 ICD10CM:C69.2 ICD9CM:190.5 MESH:D019572 NCI:C3216 NCI:C4800 SNOMEDCT_US_2016_03_01:127002001 SNOMEDCT_US_2016_03_01:363465007 SNOMEDCT_US_2016_03_01:93987004 UMLS_CUI:C0024622 UMLS_CUI:C0524801 Retinal tumor malignant Retinal neoplasm malignant neoplasm of retina malignant tumor of retina (disorder) neoplasm of retina disease_ontology DOID:4645 retinal cancer Retinal tumor NCI2004_11_17:C4800 malignant Retinal neoplasm NCI2004_11_17:C3216 malignant tumor of retina (disorder) SNOMEDCT_2005_07_31:363465007 neoplasm of retina SNOMEDCT_2005_07_31:127002001 A retinoblastoma that refers to bilateral retinoblastoma associated with an intracranial primitive neuroectodermal tumor located_in the pineal or suprasellar region. disease_ontology DOID:4647 OMIM mapping confirmed by DO. [LS]. trilateral retinoblastoma A retinoblastoma that refers to bilateral retinoblastoma associated with an intracranial primitive neuroectodermal tumor located_in the pineal or suprasellar region. url:http://www.ncbi.nlm.nih.gov/pubmed/10391573 MESH:D012175 NCI:C8495 UMLS_CUI:C0751483 Hereditary Retinoblastoma disease_ontology DOID:4648 familial retinoblastoma Hereditary Retinoblastoma NCI2004_11_17:C8495 A retinoblastoma that develops in both eyes. NCI:C8713 UMLS_CUI:C0854914 disease_ontology DOID:4650 bilateral retinoblastoma A retinoblastoma that develops in both eyes. url:http://en.wikipedia.org/wiki/Retinoblastoma A retinoblastoma that effects only one eye. NCI:C8714 UMLS_CUI:C0854915 disease_ontology DOID:4651 unilateral retinoblastoma A retinoblastoma that effects only one eye. url:http://en.wikipedia.org/wiki/Retinoblastoma A retinoblastoma that is located_in the eye and has not spread to other parts of the body. NCI:C7846 UMLS_CUI:C0278717 Intraocular Retinoblastoma disease_ontology DOID:4653 intraocular retinoblastoma A retinoblastoma that is located_in the eye and has not spread to other parts of the body. url:http://www.answers.com/topic/intraocular-retinoblastoma Intraocular Retinoblastoma NCI2004_11_17:C7846 disease_ontology DOID:4655 relapsed retinoblastoma true A retinoblastoma that has spread from the soft tissues surrounding the eye or to the optic nerve beyond the margin of resection to other parts of the body. NCI:C7848 UMLS_CUI:C0278719 Extraocular Retinoblastoma disease_ontology DOID:4656 extraocular retinoblastoma A retinoblastoma that has spread from the soft tissues surrounding the eye or to the optic nerve beyond the margin of resection to other parts of the body. url:http://www.cancer.gov/cancertopics/pdq/treatment/retinoblastoma/HealthProfessional/page7 Extraocular Retinoblastoma NCI2004_11_17:C7848 ICD10CM:D47.0 NCI:C9303 SNOMEDCT_US_2016_03_01:134333006 SNOMEDCT_US_2016_03_01:189506005 SNOMEDCT_US_2016_03_01:190020000 SNOMEDCT_US_2016_03_01:404171008 SNOMEDCT_US_2016_03_01:89796001 UMLS_CUI:C0024897 benign Mastocytoma disease_ontology DOID:4658 benign mastocytoma benign Mastocytoma NCI2004_11_17:C3217 MESH:D034801 NCI:C7136 SNOMEDCT_US_2016_03_01:63175003 UMLS_CUI:C0272202 Extracutaneous mastocytoma disease_ontology DOID:4659 extracutaneous mastocytoma Extracutaneous mastocytoma SNOMEDCT_2005_07_31:63175003 ICD10CM:D47.0 MESH:D034721 NCI:C9286 SNOMEDCT_US_2016_03_01:397356009 SNOMEDCT_US_2016_03_01:70910003 UMLS_CUI:C0272203 ISM Indolent systemic mastocytosis (disorder) Indolent systemic mastocytosis (morphologic abnormality) disease_ontology DOID:4660 indolent systemic mastocytosis ISM NCI2004_11_17:C9286 Indolent systemic mastocytosis (disorder) SNOMEDCT_2005_07_31:70910003 Indolent systemic mastocytosis (morphologic abnormality) SNOMEDCT_2005_07_31:397356009 A syndrome that is an adverse physical reaction to low levels of many common chemicals. MESH:D018777 SNOMEDCT_US_2016_03_01:702772003 UMLS_CUI:C0242992 20th century disease chemical AIDS environmental illness idiopathic environmental illness total allergy syndrome disease_ontology DOID:4661 multiple chemical sensitivity A syndrome that is an adverse physical reaction to low levels of many common chemicals. url:http://en.wikipedia.org/wiki/Multiple_chemical_sensitivity url:http://www.osha.gov/SLTC/multiplechemicalsensitivities/index.html MESH:D013786 NCI:C85186 UMLS_CUI:C0039726 disease_ontology DOID:4662 thalamic disease ICD10CM:H16.12 ICD9CM:370.23 SNOMEDCT_US_2016_03_01:51286002 UMLS_CUI:C0155077 disease_ontology DOID:4664 filamentary keratitis disease_ontology DOID:4665 superficial keratitis without conjunctivitis true A bone structure disease that has_material_basis_in an abnormal curvature located_in vertebral column. Kyphosis deformity of spine disease_ontology DOID:4667 kyphosis true A bone structure disease that has_material_basis_in an abnormal curvature located_in vertebral column. url:http://en.wikipedia.org/wiki/Kyphosis url:http://www.mayoclinic.com/health/kyphosis/DS00681 url:http://www.nlm.nih.gov/medlineplus/ency/article/001240.htm A kyphosis that results_in abnormal formation located_in body of vertebra. disease_ontology DOID:4668 congenital kyphosis true A kyphosis that results_in abnormal formation located_in body of vertebra. url:http://en.wikipedia.org/wiki/Kyphosis url:http://www.allaboutbackpain.com/html/spine_thoracic/spine_thoracic_kyphosis2.html url:http://www.posna.org/education/StudyGuide/congenitalKyphosis.asp urlXX:http://www.wheelessonline.com/ortho/congenital_kyphosis NCI:C4296 SNOMEDCT_US_2016_03_01:403968005 SNOMEDCT_US_2016_03_01:56468002 UMLS_CUI:C0334532 Venous hemangioma (disorder) Venous hemangioma (morphologic abnormality) disease_ontology DOID:467 venous hemangioma Venous hemangioma (disorder) SNOMEDCT_2005_07_31:403968005 Venous hemangioma (morphologic abnormality) SNOMEDCT_2005_07_31:56468002 MESH:D005611 UMLS_CUI:C0016697 disease_ontology DOID:4671 freemartinism A sex differentiation disease that is characterized by the partial or complete inability of the cell to respond to androgens in individuals with a karyotype of 46,XY resulting in female physical traits but male genetic makeup. DOID:4672 ICD10CM:E34.5 ICD10CM:E34.50 ICD10CM:E34.51 ICD9CM:259.5 ICD9CM:259.51 MESH:D013734 NCI:C120191 NCI:C27226 OMIM:300068 SNOMEDCT_US_2016_03_01:12313004 SNOMEDCT_US_2016_03_01:154713003 SNOMEDCT_US_2016_03_01:190562003 SNOMEDCT_US_2016_03_01:237802009 SNOMEDCT_US_2016_03_01:267486007 SNOMEDCT_US_2016_03_01:368851000119102 SNOMEDCT_US_2016_03_01:52832001 UMLS_CUI:C0039585 UMLS_CUI:C0936016 Androgen resistance syndrome (disorder) Androgen-Insensitivity Syndrome Feminisation - testicular Goldberg - Maxwell syndrome Goldberg-Maxwell syndrome testicular Feminization syndrome testicular feminization testicular feminization (disorder) disease_ontology DOID:4674 OMIM mapping confirmed by DO. [SN]. androgen insensitivity syndrome A sex differentiation disease that is characterized by the partial or complete inability of the cell to respond to androgens in individuals with a karyotype of 46,XY resulting in female physical traits but male genetic makeup. url:http://en.wikipedia.org/wiki/Androgen_insensitivity_syndrome url:http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002163/ url:http://www.omim.org/entry/300068?search=300068&highlight=300068 Androgen resistance syndrome (disorder) SNOMEDCT_2005_07_31:12313004 Feminisation - testicular SNOMEDCT_2005_07_31:154713003 SNOMEDCT_2005_07_31:267486007 Goldberg - Maxwell syndrome SNOMEDCT_2005_07_31:190562003 Goldberg-Maxwell syndrome SNOMEDCT_2005_07_31:237802009 testicular Feminization syndrome MTH:NOCODE NCI2004_11_17:C27226 testicular feminization CSP2005:2586-8897 testicular feminization (disorder) SNOMEDCT_2005_07_31:52832001 NCI:C27055 SNOMEDCT_US_2016_03_01:11659006 UMLS_CUI:C0268708 disease_ontology DOID:4675 uremic neuropathy ICD10CM:N19 MESH:D014511 SNOMEDCT_US_2016_03_01:197656003 SNOMEDCT_US_2016_03_01:266616000 SNOMEDCT_US_2016_03_01:44730006 UMLS_CUI:C0041948 UREMIA OF renal ORIGIN disease_ontology DOID:4676 uremia UREMIA OF renal ORIGIN MTH:NOCODE A corneal disease that is characterized by inflammation of the cornea. ICD10CM:H16 ICD10CM:H16.9 ICD9CM:370 ICD9CM:370.9 MESH:D007634 NCI:C26805 SNOMEDCT_US_2016_03_01:155151002 SNOMEDCT_US_2016_03_01:155155006 SNOMEDCT_US_2016_03_01:193757003 SNOMEDCT_US_2016_03_01:193793001 SNOMEDCT_US_2016_03_01:267730006 SNOMEDCT_US_2016_03_01:5888003 UMLS_CUI:C0022568 disease_ontology DOID:4677 keratitis A corneal disease that is characterized by inflammation of the cornea. url:http://www.mayoclinic.org/diseases-conditions/keratitis/basics/definition/con-20035288 NCI:C6457 UMLS_CUI:C1334814 Mucoepidermoid carcinoma of the Thymus disease_ontology DOID:4678 thymus mucoepidermoid carcinoma Mucoepidermoid carcinoma of the Thymus NCI2004_11_17:C6457 NCI:C5166 UMLS_CUI:C1334813 Mucoepidermoid carcinoma of the breast disease_ontology mucoepidermoid carcinoma of breast DOID:4679 breast mucoepidermoid carcinoma Mucoepidermoid carcinoma of the breast NCI2004_11_17:C5166 MESH:D006391 NCI:C3699 SNOMEDCT_US_2016_03_01:54249004 UMLS_CUI:C0205789 Intramuscular Angioma Intramuscular hemangioma (morphologic abnormality) disease_ontology DOID:468 intramuscular hemangioma Intramuscular Angioma NCI2004_11_17:C3699 Intramuscular hemangioma (morphologic abnormality) SNOMEDCT_2005_07_31:54249004 NCI:C5164 UMLS_CUI:C1334708 Metaplastic carcinoma of the breast disease_ontology metaplastic carcinoma of breast DOID:4680 breast metaplastic carcinoma Metaplastic carcinoma of the breast NCI2004_11_17:C5164 NCI:C5862 UMLS_CUI:C1332552 Mucoepidermoid carcinoma of the bile duct disease_ontology DOID:4681 bile duct mucoepidermoid carcinoma Mucoepidermoid carcinoma of the bile duct NCI2004_11_17:C5862 NCI:C3860 SNOMEDCT_US_2016_03_01:254603004 SNOMEDCT_US_2016_03_01:269551004 SNOMEDCT_US_2016_03_01:372101000 SNOMEDCT_US_2016_03_01:93790004 UMLS_CUI:C0238019 carcinoma of extrahepatic bile duct (disorder) extrahepatic bile duct cancer disease_ontology DOID:4682 extrahepatic bile duct carcinoma carcinoma of extrahepatic bile duct (disorder) SNOMEDCT_2005_07_31:372101000 extrahepatic bile duct cancer NCI2004_11_17:C3860 NCI:C4472 SNOMEDCT_US_2016_03_01:254713002 UMLS_CUI:C0346019 Mucoepidermoid carcinoma of skin (disorder) Mucoepidermoid skin carcinoma disease_ontology DOID:4683 cutaneous mucoepidermoid carcinoma Mucoepidermoid carcinoma of skin (disorder) SNOMEDCT_2005_07_31:254713002 Mucoepidermoid skin carcinoma NCI2004_11_17:C4472 carcinoma of adnexa skin appendage carcinoma (morphologic abnormality) disease_ontology DOID:4684 skin appendage carcinoma true carcinoma of adnexa NCI2004_11_17:C3775 skin appendage carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:189661009 skin appendage carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:64000002 NCI:C6091 UMLS_CUI:C1334359 Mucoepidermoid carcinoma of the lacrimal gland disease_ontology DOID:4685 lacrimal gland mucoepidermoid carcinoma Mucoepidermoid carcinoma of the lacrimal gland NCI2004_11_17:C6091 NCI:C5343 UMLS_CUI:C1333461 Mucoepidermoid carcinoma of the esophagus disease_ontology DOID:4686 mucoepidermoid esophageal carcinoma Mucoepidermoid carcinoma of the esophagus NCI2004_11_17:C5343 NCI:C38762 UMLS_CUI:C1513721 disease_ontology DOID:4687 mucoepidermoid thyroid carcinoma NCI:C9463 UMLS_CUI:C1334373 Mucoepidermoid carcinoma of Larynx disease_ontology DOID:4688 laryngeal mucoepidermoid carcinoma Mucoepidermoid carcinoma of Larynx NCI2004_11_17:C9463 NCI:C6555 UMLS_CUI:C1333265 disease_ontology DOID:469 deep angioma NCI:C5429 UMLS_CUI:C1332981 pediatric neurogenic tumor of mediastinum disease_ontology DOID:4690 childhood mediastinal neurogenic tumor pediatric neurogenic tumor of mediastinum NCI2004_11_17:C5429 A mediastinal cancer that has_material_basis_in neural cells. NCI:C6624 UMLS_CUI:C1334672 neurogenic tumor of mediastinum disease_ontology DOID:4691 malignant mediastinal neurogenic neoplasm A mediastinal cancer that has_material_basis_in neural cells. url:http://www.ncbi.nlm.nih.gov/pubmed/11154721 neurogenic tumor of mediastinum NCI2004_11_17:C6624 A globe disease that is characterized by inflammation of the inside of the eye. MESH:D009877 NCI:C34586 SNOMEDCT_US_2016_03_01:123052006 SNOMEDCT_US_2016_03_01:128295000 SNOMEDCT_US_2016_03_01:1847009 SNOMEDCT_US_2016_03_01:82255004 UMLS_CUI:C0014236 disease_ontology DOID:4692 endophthalmitis A globe disease that is characterized by inflammation of the inside of the eye. url:://www.merck.com/mmhe/sec20/ch234/ch234i.html url:http://en.wikipedia.org/wiki/Endophthalmitis url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=endophthalmitis NCI:C5822 UMLS_CUI:C1334945 neural Plexus tumors disease_ontology DOID:4693 nerve plexus neoplasm neural Plexus tumors NCI2004_11_17:C5822 malignant tumor of PNS malignant tumor of peripheral nerve (disorder) disease_ontology DOID:4694 malignant peripheral nerve neoplasm true malignant tumor of PNS NCI2004_11_17:C4961 malignant tumor of peripheral nerve (disorder) SNOMEDCT_2005_07_31:254986007 NCI:C6911 SNOMEDCT_US_2016_03_01:128795001 UMLS_CUI:C1370658 Intraneural Perineurioma disease_ontology DOID:4696 intraneural perineurioma Intraneural Perineurioma NCI2004_11_17:C6911 DOID:8371 MESH:D018317 NCI:C4973 NCI:C6912 SNOMEDCT_US_2016_03_01:128795001 SNOMEDCT_US_2016_03_01:404036006 UMLS_CUI:C0751691 UMLS_CUI:C1370657 soft tissue Perineurioma disease_ontology DOID:4697 perineurioma soft tissue Perineurioma NCI2004_11_17:C6912 NCI:C5119 UMLS_CUI:C1334946 tumor of nerve Root disease_ontology DOID:4698 nerve root neoplasm tumor of nerve Root NCI2004_11_17:C5119 DOID:14537 NCI:C5347 SNOMEDCT_US_2016_03_01:126733004 SNOMEDCT_US_2016_03_01:93782004 UMLS_CUI:C0346610 UMLS_CUI:C1290403 Epicardial tumor malignant Epicardial tumor malignant neoplasm of epicardium disease_ontology DOID:4699 epicardium cancer Epicardial tumor NCI2004_11_17:C5347 malignant Epicardial tumor NCI2004_11_17:C4568 ICD10CM:N42.9 ICD9CM:602.9 MESH:D011469 NCI:C26865 SNOMEDCT_US_2016_03_01:197979000 SNOMEDCT_US_2016_03_01:30281009 UMLS_CUI:C0033575 disease_ontology DOID:47 prostate disease NCI:C4299 SNOMEDCT_US_2016_03_01:20985003 UMLS_CUI:C0334540 verrucous keratotic hemangioma (morphologic abnormality) disease_ontology DOID:470 verrucous keratotic hemangioma verrucous keratotic hemangioma (morphologic abnormality) SNOMEDCT_2005_07_31:20985003 Congenital giant pigmented nevus of skin (disorder) Giant Pigmented nevus of the skin Intermediate and giant congenital naevus disease_ontology DOID:4700 bathing trunk nevus true Congenital giant pigmented nevus of skin (disorder) SNOMEDCT_2005_07_31:254815002 Giant Pigmented nevus of the skin NCI2004_11_17:C4234 Intermediate and giant congenital naevus SNOMEDCT_2005_07_31:10291008 MESH:D049328 NCI:C3945 SNOMEDCT_US_2016_03_01:157017000 SNOMEDCT_US_2016_03_01:268355000 SNOMEDCT_US_2016_03_01:40467008 UMLS_CUI:C0265985 Mongolian Macula disease_ontology DOID:4702 mongolian spot Mongolian Macula NCI2004_11_17:C3945 pediatric neoplasm of brain disease_ontology DOID:4705 childhood brain tumor true pediatric neoplasm of brain NCI2004_11_17:C7703 A brain cancer that is located_in the infratentorial region. DOID:4789 ICD10CM:C71.7 MESH:D015192 NCI:C3139 NCI:C4966 UMLS_CUI:C0021432 UMLS_CUI:C0751593 brain neoplasm, Infratentorial malignant Infratentorial tumors disease_ontology DOID:4706 infratentorial cancer A brain cancer that is located_in the infratentorial region. url:http://en.wikipedia.org/wiki/Tentorium_cerebelli url:http://www.ncbi.nlm.nih.gov/mesh/68015192 brain neoplasm, Infratentorial NCI2004_11_17:C3139 malignant Infratentorial tumors NCI2004_11_17:C4966 NCI:C5423 UMLS_CUI:C1332923 tumor of the Cervicomedullary Junction disease_ontology DOID:4707 cervicomedullary junction neoplasm tumor of the Cervicomedullary Junction NCI2004_11_17:C5423 NCI:C5280 UMLS_CUI:C1333630 meningioma of the Foramen Magnum disease_ontology DOID:4708 foramen magnum meningioma meningioma of the Foramen Magnum NCI2004_11_17:C5280 NCI:C4905 SNOMEDCT_US_2016_03_01:189195009 SNOMEDCT_US_2016_03_01:254773009 SNOMEDCT_US_2016_03_01:93471006 UMLS_CUI:C0687140 Angioma of the skin Angiomatous naevus of skin hemangioma of skin (disorder) disease_ontology DOID:471 skin hemangioma Angioma of the skin NCI2004_11_17:C4905 Angiomatous naevus of skin SNOMEDCT_2005_07_31:254773009 hemangioma of skin (disorder) SNOMEDCT_2005_07_31:93471006 disease_ontology DOID:4711 krebs 2 carcinoma true mesenchymal tumor of stomach disease_ontology DOID:4712 gastric mesenchymal neoplasm true mesenchymal tumor of stomach NCI2004_11_17:C5487 DOID:12829 postpartum pelvic hematoma disease_ontology DOID:4714 obstetrical pelvic hematoma true NCI:C5696 UMLS_CUI:C1333783 neuroendocrine tumor of the stomach disease_ontology DOID:4715 gastric neuroendocrine neoplasm neuroendocrine tumor of the stomach NCI2004_11_17:C5696 NCI:C6448 UMLS_CUI:C1333769 germ cell tumor of the stomach disease_ontology DOID:4716 malignant gastric germ cell tumor germ cell tumor of the stomach NCI2004_11_17:C6448 A germ cell cancer that derives_from germ cells that are found in areas of the body other than the ovary or testicle. The tumors originate in the sperm forming cells in the testicles or egg producing cells in the ovary. DOID:5839 NCI:C3918 NCI:C8881 UMLS_CUI:C0262963 UMLS_CUI:C1334581 extragonadal germ cell malignant tumor neoplasm of Extragonadal germ cell disease_ontology tumor of extragonadal germ cell DOID:4717 extragonadal germ cell cancer A germ cell cancer that derives_from germ cells that are found in areas of the body other than the ovary or testicle. The tumors originate in the sperm forming cells in the testicles or egg producing cells in the ovary. url:http://tcrc.acor.org/egc.html url:http://www.cancer.gov/cancertopics/types/extragonadal-germ-cell neoplasm of Extragonadal germ cell NCI2004_11_17:C3918 A malignant giant cell tumor that is composed_of multinucleated giant cells. NCI:C4304 SNOMEDCT_US_2016_03_01:10069009 UMLS_CUI:C0334552 Giant cell sarcoma of the bone Giant cell tumor of bone, malignant (morphologic abnormality) disease_ontology DOID:4719 bone giant cell sarcoma A malignant giant cell tumor that is composed_of multinucleated giant cells. url:http://en.wikipedia.org/wiki/Giant_cell_tumor_of_bone Giant cell sarcoma of the bone NCI2004_11_17:C4304 Giant cell tumor of bone, malignant (morphologic abnormality) SNOMEDCT_2005_07_31:10069009 NCI:C6026 UMLS_CUI:C1336518 hemangioma of the Subglottis disease_ontology DOID:472 subglottic angioma hemangioma of the Subglottis NCI2004_11_17:C6026 MESH:D019585 SNOMEDCT_US_2016_03_01:433691000124104 UMLS_CUI:C0524812 disease_ontology DOID:4723 intracranial hypotension MESH:D001929 SNOMEDCT_US_2016_03_01:2032001 SNOMEDCT_US_2016_03_01:85974009 UMLS_CUI:C1527311 intracranial swelling wet brain disease_ontology DOID:4724 brain edema intracranial swelling SNOMEDCT_2005_07_31:2032001 wet brain CSP2005:0485-0998 neck neoplasm neck neoplasm (Including All Pharyngeal Related neoplasm) neoplasm of neck (disorder) disease_ontology DOID:4725 neck neoplasm true neck neoplasm CSP2005:2005-4325 neck neoplasm (Including All Pharyngeal Related neoplasm) NCI2004_11_17:C3260 neoplasm of neck (disorder) SNOMEDCT_2005_07_31:126635000 Anterior synechiae (disorder) Anterior synechiae of iris disease_ontology DOID:4726 Anterior synechiae true Anterior synechiae (disorder) SNOMEDCT_2005_07_31:70992005 Anterior synechiae of iris ICD9CM_2006:364.72 Synechia (iris) Synechiae NOS Unspecified adhesions of iris (disorder) adhesions of iris (disorder) adhesions of iris, unspecified disease_ontology DOID:4727 adhesions of iris true Synechia (iris) SNOMEDCT_2005_07_31:267720002 Synechiae NOS MTHICD9_2006:364.70 Unspecified adhesions of iris (disorder) SNOMEDCT_2005_07_31:193518008 adhesions of iris (disorder) SNOMEDCT_2005_07_31:78778007 adhesions of iris, unspecified ICD9CM_2006:364.70 A rhinitis which involves a hypersensitive reaction to various potentially irritating stimuli such as changes in weather, temperature, or barometric pressure, chemical irritants such as smoke, ozone, pollution, perfumes, and aerosol sprays, psychological stress and emotional shocks, medications, alcohol, and spicy food. ICD10CM:J30.0 MESH:D012223 NCI:C34988 SNOMEDCT_US_2016_03_01:155537009 SNOMEDCT_US_2016_03_01:266386004 SNOMEDCT_US_2016_03_01:8229003 UMLS_CUI:C0035460 disease_ontology DOID:4730 vasomotor rhinitis A rhinitis which involves a hypersensitive reaction to various potentially irritating stimuli such as changes in weather, temperature, or barometric pressure, chemical irritants such as smoke, ozone, pollution, perfumes, and aerosol sprays, psychological stress and emotional shocks, medications, alcohol, and spicy food. url:http://en.wikipedia.org/wiki/Rhinitis url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=vasomotor%20rhinitis A rhinitis which involves inflammation of the nose characterised by atrophy of nasal mucosa including the glands, turbinate bones, and the nerve elements supplying the nose that is caused by heredity factors, endocrine imbalance, nutritional deficiency, bacterial infection and autoimmune issues. MESH:D012222 SNOMEDCT_US_2016_03_01:28111002 UMLS_CUI:C0035459 Ozaena Rhinitis, atrophic dry rhinitis ozena disease_ontology rhinitis sicca DOID:4731 atrophic rhinitis A rhinitis which involves inflammation of the nose characterised by atrophy of nasal mucosa including the glands, turbinate bones, and the nerve elements supplying the nose that is caused by heredity factors, endocrine imbalance, nutritional deficiency, bacterial infection and autoimmune issues. url:http://en.wikipedia.org/wiki/atrophic_rhinitis url:http://www.springerlink.com/content/d2712j215h42656g/fulltext.pdf Rhinitis, atrophic MTHICD9_2006:472.0 MESH:D002115 NCI:C84607 SNOMEDCT_US_2016_03_01:237900002 UMLS_CUI:C0006666 disease_ontology DOID:4734 calciphylaxis A disease of mental health that involves physical symptoms suggesting a physical illness where the biological or medical cause of the symptoms is indeterminate. DOID:10133 DOID:144 ICD10CM:F45 ICD10CM:F45.0 ICD10CM:F45.9 ICD9CM:300.8 ICD9CM:300.81 ICD9CM:306.8 MESH:D013001 NCI:C34956 SNOMEDCT_US_2016_03_01:154892001 SNOMEDCT_US_2016_03_01:191743005 SNOMEDCT_US_2016_03_01:192035008 SNOMEDCT_US_2016_03_01:192430009 SNOMEDCT_US_2016_03_01:192431008 SNOMEDCT_US_2016_03_01:192437007 SNOMEDCT_US_2016_03_01:31297008 SNOMEDCT_US_2016_03_01:397795007 SNOMEDCT_US_2016_03_01:397826007 SNOMEDCT_US_2016_03_01:397923000 SNOMEDCT_US_2016_03_01:60368009 SNOMEDCT_US_2016_03_01:9514005 UMLS_CUI:C0029824 UMLS_CUI:C0037650 UMLS_CUI:C0520482 physiological malfunction arising from mental factor psychophysiologic disorder psychosomatic disorder disease_ontology DOID:4737 somatoform disorder A disease of mental health that involves physical symptoms suggesting a physical illness where the biological or medical cause of the symptoms is indeterminate. url:http://allpsych.com/disorders/somatoform/index.html url:http://en.wikipedia.org/wiki/Somatoform_disorder psychosomatic disorder CSP2005:2482-7019 disease_ontology DOID:4738 Iris or ciliary body disorder true A testicular cancer that has_material_basis_in the surface epithelium of the testis and is characterized by the presence of cysts lined by transitional cells and solid nests of transitional cells in a spindle cell stroma. NCI:C39953 UMLS_CUI:C1515281 disease_ontology DOID:4739 testicular Brenner tumor A testicular cancer that has_material_basis_in the surface epithelium of the testis and is characterized by the presence of cysts lined by transitional cells and solid nests of transitional cells in a spindle cell stroma. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C39953 url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5245059/ MESH:D006391 NCI:C4298 SNOMEDCT_US_2016_03_01:125574005 SNOMEDCT_US_2016_03_01:189869009 SNOMEDCT_US_2016_03_01:189870005 SNOMEDCT_US_2016_03_01:253054009 SNOMEDCT_US_2016_03_01:33929001 SNOMEDCT_US_2016_03_01:69159005 UMLS_CUI:C0205788 Angiolymphoid hyperplasia with eosinophilia (disorder) epithelioid haemangioma epithelioid hemangioma epithelioid hemangioma (morphologic abnormality) disease_ontology DOID:474 histiocytoid hemangioma Angiolymphoid hyperplasia with eosinophilia (disorder) SNOMEDCT_2005_07_31:125574005 epithelioid haemangioma SNOMEDCT_2005_07_31:189869009 epithelioid hemangioma NCI2004_11_17:C4298 epithelioid hemangioma (morphologic abnormality) SNOMEDCT_2005_07_31:33929001 mixed Embryonal carcinoma and teratoma of testis disease_ontology DOID:4742 mixed embryonal carcinoma and teratoma of the testis true mixed Embryonal carcinoma and teratoma of testis NCI2004_11_17:C6351 A mixed germ cell cancer that is located_in the testis. NCI:C6347 UMLS_CUI:C1336720 mixed germ cell tumor of testis disease_ontology DOID:4743 mixed testicular germ cell tumor A mixed germ cell cancer that is located_in the testis. url:http://en.wikipedia.org/wiki/Germ_cell_tumor mixed germ cell tumor of testis NCI2004_11_17:C6347 A placenta disease that is characterized by an abnormally deep attachment of the placenta, through the endometrium and into the myometrium. ICD10CM:O43.21 MESH:D010921 NCI:C26856 SNOMEDCT_US_2016_03_01:70129008 UMLS_CUI:C0032044 disease_ontology DOID:4744 placenta accreta A placenta disease that is characterized by an abnormally deep attachment of the placenta, through the endometrium and into the myometrium. url:http://en.wikipedia.org/wiki/Placenta_accreta disorder of smell (disorder) disease_ontology DOID:4746 olfaction disorder true disorder of smell (disorder) SNOMEDCT_2005_07_31:275462005 pediatric Supratentorial tumor disease_ontology DOID:4748 childhood supratentorial neoplasm true pediatric Supratentorial tumor NCI2004_11_17:C5960 NCI:C5586 UMLS_CUI:C1334757 meningioma of the middle Cranial Fossa disease_ontology DOID:4749 middle cranial fossa meningioma meningioma of the middle Cranial Fossa NCI2004_11_17:C5586 ICD10CM:G23.2 MESH:D020955 OMIM:271930 OMIM:500003 OMIM:609161 SNOMEDCT_US_2016_03_01:29618004 UMLS_CUI:C0270733 disease_ontology DOID:4751 OMIM mapping confirmed by DO. [LS]. striatonigral degeneration DOID:11510 MESH:D012791 MESH:D019578 NCI:C84909 NCI:C85066 OMIM:146500 SNOMEDCT_US_2016_03_01:16576004 SNOMEDCT_US_2016_03_01:230297002 UMLS_CUI:C0037019 UMLS_CUI:C0393571 Multiple system atrophy (disorder) Shy-Drager syndrome disease_ontology DOID:4752 OMIM mapping confirmed by DO. [LS]. multiple system atrophy Multiple system atrophy (disorder) SNOMEDCT_2005_07_31:230297002 A trichostrongyloidiasis that involves parasitic infection of the bronchial tree of horses, sheep, goats, deer, and cattle by nematodes of the genus Dictyocaulus. Infection by Dictyocaulus (disorder) disease_ontology DOID:4754 Dictyocaulus infectious disease true A trichostrongyloidiasis that involves parasitic infection of the bronchial tree of horses, sheep, goats, deer, and cattle by nematodes of the genus Dictyocaulus. url:http://en.wikipedia.org/wiki/Dictyocaulus Infection by Dictyocaulus (disorder) SNOMEDCT_2005_07_31:28713008 NCI:C6356 SNOMEDCT_US_2016_03_01:67871000119105 UMLS_CUI:C0863027 testicular Leydig cell neoplasm disease_ontology DOID:4756 testicular Leydig cell tumor testicular Leydig cell neoplasm NCI2004_11_17:C6356 NCI:C6358 SNOMEDCT_US_2016_03_01:702406000 UMLS_CUI:C3840076 Sex Cord-Stromal tumor of testis disease_ontology DOID:4757 sex cord-stromal neoplasm Sex Cord-Stromal tumor of testis NCI2004_11_17:C6358 Goniosynechiae Goniosynechiae (disorder) peripheral anterior synechiae (disorder) disease_ontology DOID:4758 peripheral anterior synechiae true Goniosynechiae ICD9CM_2006:364.73 Goniosynechiae SNOMEDCT_2005_07_31:193519000 Goniosynechiae (disorder) SNOMEDCT_2005_07_31:71902007 peripheral anterior synechiae (disorder) SNOMEDCT_2005_07_31:247034002 NCI:C5353 UMLS_CUI:C0853715 Angioma of the breast hemangioma of breast disease_ontology DOID:476 breast hemangioma Angioma of the breast NCI2004_11_17:C5353 A viral infectious disease that results_in infection in cattle and other ruminants, has_material_basis_in Macavirus and has_symptom fever, has_symptom bilateral corneal opacity, and has_symptom oculonasal discharge. Gangrenous Coryza Snotsiekte malignant catarrhal fever disease_ontology DOID:4760 malignant catarrh true A viral infectious disease that results_in infection in cattle and other ruminants, has_material_basis_in Macavirus and has_symptom fever, has_symptom bilateral corneal opacity, and has_symptom oculonasal discharge. url:http://www.cfsph.iastate.edu/Factsheets/pdfs/malignant_catarrhal_fever.pdf MESH:D018783 UMLS_CUI:C0243000 disease_ontology DOID:4762 vasculogenic impotence An embryoma and malignant neoplasm of lung that derives_from tissues of the lung and derives_from pleura (a thin layer of tissue that covers the lungs and lines the interior wall of the chest cavity). It is most commonly effects children. MESH:D018202 NCI:C3732 SNOMEDCT_US_2016_03_01:189815007 SNOMEDCT_US_2016_03_01:43149009 UMLS_CUI:C0206629 Blastoma of lung disease_ontology DOID:4765 pulmonary blastoma An embryoma and malignant neoplasm of lung that derives_from tissues of the lung and derives_from pleura (a thin layer of tissue that covers the lungs and lines the interior wall of the chest cavity). It is most commonly effects children. url:http://www.cancer.gov/dictionary/?CdrID=446557 Blastoma of lung NCI2004_11_17:C3732 A carcinosarcoma and embryonal cancer that is located_in embryonic tissue and results_in a mass of rapidly growing cells. NCI:C8997 SNOMEDCT_US_2016_03_01:86049000 UMLS_CUI:C0936282 Blastoma, NOS disease_ontology DOID:4766 embryoma A carcinosarcoma and embryonal cancer that is located_in embryonic tissue and results_in a mass of rapidly growing cells. url:http://en.wikipedia.org/wiki/Embryoma Blastoma, NOS SNOMEDCT_2005_07_31:86049000 NCI:C36054 UMLS_CUI:C1332556 disease_ontology DOID:4767 classic pulmonary blastoma NCI:C36053 UMLS_CUI:C1333420 disease_ontology DOID:4768 epithelial predominant pulmonary blastoma A pulmonary blastoma that derives_from the lung or pleural cavity. MESH:C537516 NCI:C5669 OMIM:601200 SNOMEDCT_US_2016_03_01:128763002 SNOMEDCT_US_2016_03_01:707670009 UMLS_CUI:C1266144 Pleuropulmonary blastoma (morphologic abnormality) disease_ontology DOID:4769 OMIM mapping confirmed by DO. [SN]. pleuropulmonary blastoma A pulmonary blastoma that derives_from the lung or pleural cavity. url:http://do-wiki.nubic.northwestern.edu/index.php/Relations_in_DO Pleuropulmonary blastoma (morphologic abnormality) SNOMEDCT_2005_07_31:128763002 A kidney cancer that is found in the kidney and is usually found before birth by ultrasound or within the first 3 months of life. MESH:D018201 SNOMEDCT_US_2016_03_01:11793003 SNOMEDCT_US_2016_03_01:307604008 UMLS_CUI:C0206628 Mesoblastic Nephroma Mesoblastic nephroma (disorder) Mesoblastic nephroma (morphologic abnormality) disease_ontology DOID:4772 mesoblastic nephroma A kidney cancer that is found in the kidney and is usually found before birth by ultrasound or within the first 3 months of life. url:http://en.wikipedia.org/wiki/Mesoblastic_nephroma Mesoblastic Nephroma NCI2004_11_17:C3731 Mesoblastic nephroma (disorder) SNOMEDCT_2005_07_31:307604008 Mesoblastic nephroma (morphologic abnormality) SNOMEDCT_2005_07_31:11793003 MESH:D018201 NCI:C6569 UMLS_CUI:C1332965 disease_ontology DOID:4773 congenital mesoblastic nephroma A viral infectious disease that results_in infection in domesticated housecats, has_material_basis_in Feline immunodeficiency virus, which is transmitted_by contact with the infected cat's saliva during deep bite wounds, and transmitted_by congenital method. The virus attacks the immune system infecting CD4+ and CD8+ T lymphocytes, B lymphocytes, and macrophages. Some of the symptoms are loss of weight, malaise, pyrexia, anemia, gastroenteritis, gingivitis, stomatitis, diarrhea, infections of the skin, eyes, urinary tract, respiratory tract, and diseases of the nervous system. disease_ontology DOID:4775 feline acquired immunodeficiency syndrome true A viral infectious disease that results_in infection in domesticated housecats, has_material_basis_in Feline immunodeficiency virus, which is transmitted_by contact with the infected cat's saliva during deep bite wounds, and transmitted_by congenital method. The virus attacks the immune system infecting CD4+ and CD8+ T lymphocytes, B lymphocytes, and macrophages. Some of the symptoms are loss of weight, malaise, pyrexia, anemia, gastroenteritis, gingivitis, stomatitis, diarrhea, infections of the skin, eyes, urinary tract, respiratory tract, and diseases of the nervous system. url:http://en.wikipedia.org/wiki/Feline_acquired_immunodeficiency_syndrome#Transmission url:http://www.scumdoctor.com/vaccination/immune-deficiency/Symptoms-Of-Feline-Acquired-Immunodeficiency-Syndrome.html ICD10CM:N01 NCI:C35264 SNOMEDCT_US_2016_03_01:236392004 SNOMEDCT_US_2016_03_01:45406000 UMLS_CUI:C0221239 disease_ontology DOID:4776 rapidly progressive glomerulonephritis NCI:C35706 UMLS_CUI:C0546345 disease_ontology DOID:4777 exudative glomerulonephritis NCI:C35281 SNOMEDCT_US_2016_03_01:441815006 UMLS_CUI:C0235618 disease_ontology DOID:4778 proliferative glomerulonephritis NCI:C35707 UMLS_CUI:C0238143 disease_ontology DOID:4779 focal embolic glomerulonephritis vascular tumor of breast disease_ontology DOID:478 breast vascular neoplasm true vascular tumor of breast NCI2004_11_17:C5209 NCI:C35798 UMLS_CUI:C1332309 disease_ontology DOID:4780 anti-basement membrane glomerulonephritis NCI:C35799 UMLS_CUI:C0859036 disease_ontology DOID:4781 diffuse glomerulonephritis NCI:C35801 SNOMEDCT_US_2016_03_01:123609007 UMLS_CUI:C1263744 disease_ontology DOID:4782 subacute glomerulonephritis NCI:C35445 SNOMEDCT_US_2016_03_01:35546006 UMLS_CUI:C0221238 disease_ontology DOID:4783 mesangial proliferative glomerulonephritis NCI:C35800 SNOMEDCT_US_2016_03_01:123752003 UMLS_CUI:C0744421 Immune Complex Glomerulonephritis disease_ontology DOID:4784 immune-complex glomerulonephritis Immune Complex Glomerulonephritis NCI2004_11_17:C35800 disease_ontology DOID:4786 primitive neuroectodermal tumor with Leptomeningeal Spread true NCI:C5436 UMLS_CUI:C1332904 Cerebellopontine Angle PNET disease_ontology DOID:4787 cerebellopontine angle primitive neuroectodermal Cerebellopontine Angle PNET NCI2004_11_17:C5436 NCI:C5817 UMLS_CUI:C1334246 intracranial PNET disease_ontology DOID:4788 intracranial primitive neuroectodermal tumor intracranial PNET NCI2004_11_17:C5817 DOID:665 CSP:2007-0683 MESH:D000794 NCI:C2874 NCI:C4488 SNOMEDCT_US_2016_03_01:254788004 SNOMEDCT_US_2016_03_01:26810009 UMLS_CUI:C0002985 UMLS_CUI:C0346075 Angiokeratoma (morphologic abnormality) Angiokeratoma of skin (disorder) Cutaneous Angiokeratoma skin angiokeratoma disease_ontology DOID:479 angiokeratoma Angiokeratoma (morphologic abnormality) SNOMEDCT_2005_07_31:26810009 Angiokeratoma of skin (disorder) SNOMEDCT_2005_07_31:254788004 Cutaneous Angiokeratoma NCI2004_11_17:C4488 MESH:D018242 NCI:C4327 NCI:C66808 SNOMEDCT_US_2016_03_01:189932005 SNOMEDCT_US_2016_03_01:39005004 UMLS_CUI:C0334596 Diktyoma, malignant Medulloepithelioma NOS (morphologic abnormality) Medulloepithelioma, central nervous system disease_ontology DOID:4790 medulloepithelioma Diktyoma, malignant SNOMEDCT_2005_07_31:39005004 Medulloepithelioma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189932005 Medulloepithelioma, central nervous system NCI2004_11_17:C4327 NCI:C6968 SNOMEDCT_US_2016_03_01:39781001 SNOMEDCT_US_2016_03_01:699318007 UMLS_CUI:C1336538 Supratentorial PNET disease_ontology DOID:4791 supratentorial primitive neuroectodermal tumor Supratentorial PNET SNOMEDCT_2005_07_31:39781001 MESH:D018242 NCI:C4915 SNOMEDCT_US_2016_03_01:21589007 SNOMEDCT_US_2016_03_01:253070006 UMLS_CUI:C0700367 disease_ontology DOID:4794 ependymoblastoma MESH:D049290 OMIM:272750 SNOMEDCT_US_2016_03_01:71253000 UMLS_CUI:C0268275 Tay-Sachs disease, variant AB (disorder) disease_ontology DOID:4795 OMIM mapping confirmed by DO. [SN]. Tay-Sachs disease AB variant Tay-Sachs disease, variant AB (disorder) SNOMEDCT_2005_07_31:71253000 MESH:D018489 SNOMEDCT_US_2016_03_01:21162009 UMLS_CUI:C0242700 disease_ontology DOID:4796 space motion sickness NCI:C9284 SNOMEDCT_US_2016_03_01:397015000 SNOMEDCT_US_2016_03_01:397357000 UMLS_CUI:C1301365 systemic mastocytosis with associated clonal haematological non-mast cell lineage disease systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease (morphologic abnormality) disease_ontology DOID:4797 SM-AHNMD systemic mastocytosis with associated clonal haematological non-mast cell lineage disease SNOMEDCT_2005_07_31:397015000 systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease (morphologic abnormality) SNOMEDCT_2005_07_31:397357000 ICD10CM:C96.2 MESH:D034721 NCI:C9285 SNOMEDCT_US_2016_03_01:397008008 SNOMEDCT_US_2016_03_01:397358005 UMLS_CUI:C1112486 ASM Aggressive systemic mastocytosis (morphologic abnormality) Lymphadenopathic mastocytosis with eosinophilia disease_ontology DOID:4798 aggressive systemic mastocytosis ASM NCI2004_11_17:C9285 Aggressive systemic mastocytosis (morphologic abnormality) SNOMEDCT_2005_07_31:397358005 Lymphadenopathic mastocytosis with eosinophilia SNOMEDCT_2005_07_31:397008008 disease_ontology DOID:4799 AIDS-related idiopathic thrombocytopenic purpura true A reproductive system disease that affects male reproductive organs. ICD10CM:N50.9 ICD9CM:600-608.99 ICD9CM:608.9 MESH:D005832 SNOMEDCT_US_2016_03_01:155905004 SNOMEDCT_US_2016_03_01:155933004 SNOMEDCT_US_2016_03_01:155945008 SNOMEDCT_US_2016_03_01:198089001 SNOMEDCT_US_2016_03_01:198553004 SNOMEDCT_US_2016_03_01:64557000 UMLS_CUI:C0017412 disease_ontology DOID:48 male reproductive system disease A reproductive system disease that affects male reproductive organs. url:https://www.dmu.edu/medterms/male-reproductive-system/male-reproductive-system-diseases/ MESH:D009069 NCI:C116757 SNOMEDCT_US_2016_03_01:60342002 UMLS_CUI:C0026650 disease_ontology DOID:480 movement disease disease_ontology DOID:4800 iris vascular disorder true A viral infectious disease that results_in infection in sheep and goats, has_material_basis_in Border disease virus, which is transmitted_by congenital method. The infection has_symptom abortion, has_symptom stillbirth, has_symptom hairy fleece in lambs, and has_symptom abnormal body conformation. hairy shaker disease disease_ontology DOID:4804 border disease true A viral infectious disease that results_in infection in sheep and goats, has_material_basis_in Border disease virus, which is transmitted_by congenital method. The infection has_symptom abortion, has_symptom stillbirth, has_symptom hairy fleece in lambs, and has_symptom abnormal body conformation. url:http://www.oie.int/eng/Normes/mmanual/2008/pdf/2.07.01_BORDER_DIS.pdf An Enterovirus infectious disease that results_in infection, has_material_basis_in Swine vesicular disease virus, which is transmitted_by ingestion of contaminated food, or transmitted_by contact with an infected animal. The infection results_in_formation_of vesicles in the mouth, snout and feet, and has_symptom lameness. disease_ontology DOID:4807 swine vesicular disease true An Enterovirus infectious disease that results_in infection, has_material_basis_in Swine vesicular disease virus, which is transmitted_by ingestion of contaminated food, or transmitted_by contact with an infected animal. The infection results_in_formation_of vesicles in the mouth, snout and feet, and has_symptom lameness. url:http://en.wikipedia.org/wiki/Swine_vesicular_disease A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Enterovirus, which is transmitted_by direct contact with secretions from an infected person, transmitted_by fomites, transmitted_by droplet spread of oronasal secretions from an infected person, or transmitted_by ingestion of contaminated food. disease_ontology DOID:4808 Enterovirus infectious disease true A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Enterovirus, which is transmitted_by direct contact with secretions from an infected person, transmitted_by fomites, transmitted_by droplet spread of oronasal secretions from an infected person, or transmitted_by ingestion of contaminated food. url:http://www.idph.state.il.us/public/hb/hbentero.htm A viral infectious disease that results_in inflammation located_in brain and located_in spinal cord of pigs, has_material_basis_in Porcine teschovirus, which is transmitted_by ingestion of contaminated food, and transmitted_by contaminated fomites. The infection has_symptom fever, has_symptom anorexia, has_symptom depression, has_symptom incoordination, has_symptom paralysis, has_symptom muscle tremors, has_symptom stiffness, has_symptom nystagmus, has_symptom seizures, and has_symptom loss of the voice. Poliomyelitis Suum Porcine polioencephalomyelitis Talfan disease Teschen disease disease_ontology DOID:4809 enzootic porcine encephalomyelitis true A viral infectious disease that results_in inflammation located_in brain and located_in spinal cord of pigs, has_material_basis_in Porcine teschovirus, which is transmitted_by ingestion of contaminated food, and transmitted_by contaminated fomites. The infection has_symptom fever, has_symptom anorexia, has_symptom depression, has_symptom incoordination, has_symptom paralysis, has_symptom muscle tremors, has_symptom stiffness, has_symptom nystagmus, has_symptom seizures, and has_symptom loss of the voice. url:http://www.cfsph.iastate.edu/Factsheets/pdfs/enterovirus_encephalomyelitis.pdf SNOMEDCT_US_2015_03_01:192838009 SNOMEDCT_US_2015_03_01:192842007 UMLS_CUI:C0014887 disease_ontology DOID:481 obsolete central nervous system hereditary degenerative disease true A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has_material_basis_in autosomal recessive inheritance and results in cholestanol deposition in the brain and other tissues and with elevated levels of cholesterol in plasma. MESH:D019294 NCI:C84628 OMIM:213700 SNOMEDCT_US_2016_03_01:63246000 UMLS_CUI:C0238052 Cholestanol storage disease (disorder) disease_ontology DOID:4810 OMIM mapping confirmed by DO. [SN]. cerebrotendinous xanthomatosis A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has_material_basis_in autosomal recessive inheritance and results in cholestanol deposition in the brain and other tissues and with elevated levels of cholesterol in plasma. url:http://en.wikipedia.org/wiki/Cerebrotendineous_xanthomatosis url:http://rarediseasesnetwork.epi.usf.edu/stair/ctx/ url:http://www.ncbi.nlm.nih.gov/books/NBK1409/ url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=909 Cholestanol storage disease (disorder) SNOMEDCT_2005_07_31:63246000 NCI:C9370 UMLS_CUI:C1377914 adult brain stem Gliosarcoma disease_ontology DOID:4812 adult brainstem gliosarcoma adult brain stem Gliosarcoma NCI2004_11_17:C9370 NCI:C9091 UMLS_CUI:C0278873 adult Brainstem Neuroglial tumor disease_ontology DOID:4813 adult brain stem glioma adult Brainstem Neuroglial tumor NCI2004_11_17:C9091 Ganglioneuroma of Retroperitoneum disease_ontology DOID:4814 ganglioneuroma of the retroperitoneum true Ganglioneuroma of Retroperitoneum NCI2004_11_17:C5427 disease_ontology DOID:4816 maturing ganglioneuroma true NCI:C42065 UMLS_CUI:C1513025 disease_ontology DOID:4817 ganglioneuroma Occult Non-small cell carcinoma of the lung disease_ontology occult non-small cell carcinoma of lung DOID:4818 lung occult non-small cell carcinoma true Occult Non-small cell carcinoma of the lung NCI2004_11_17:C9038 Occult carcinoma of the lung disease_ontology occult carcinoma of lung DOID:4819 lung occult carcinoma true Occult carcinoma of the lung NCI2004_11_17:C5641 NCI:C27507 UMLS_CUI:C1333956 disease_ontology DOID:482 hemangioma of peripheral nerve Unspecified stage IV carcinoma of lung disease_ontology DOID:4828 metastatic lung carcinoma true Unspecified stage IV carcinoma of lung NCI2004_11_17:C8774 NCI:C9133 UMLS_CUI:C0279557 Adenosquamous lung carcinoma disease_ontology DOID:4829 adenosquamous cell lung carcinoma Adenosquamous lung carcinoma NCI2004_11_17:C9133 ICD10CM:D18.0 MESH:D006392 NCI:C3086 SNOMEDCT_US_2016_03_01:157014007 SNOMEDCT_US_2016_03_01:189192007 SNOMEDCT_US_2016_03_01:254781005 SNOMEDCT_US_2016_03_01:33377007 SNOMEDCT_US_2016_03_01:416824008 SNOMEDCT_US_2016_03_01:56975005 SNOMEDCT_US_2016_03_01:67668002 UMLS_CUI:C0018920 Cavernoma Cavernous haemangioma (disorder) Cavernous hemangioma (morphologic abnormality) disease_ontology DOID:483 cavernous hemangioma Cavernoma NCI2004_11_17:C3086 Cavernous haemangioma (disorder) SNOMEDCT_2005_07_31:416824008 Cavernous hemangioma (morphologic abnormality) SNOMEDCT_2005_07_31:33377007 A squamous cell carcinoma that contains squamous cells and gland-like cells. MESH:D018196 NCI:C3727 SNOMEDCT_US_2016_03_01:403902008 SNOMEDCT_US_2016_03_01:59367005 UMLS_CUI:C0206623 Adenosquamous carcinoma (morphologic abnormality) Adenosquamous cell carcinoma (disorder) mixed adenocarcinoma and squamous carcinoma disease_ontology DOID:4830 adenosquamous carcinoma A squamous cell carcinoma that contains squamous cells and gland-like cells. url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC476239/ Adenosquamous carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:59367005 Adenosquamous cell carcinoma (disorder) SNOMEDCT_2005_07_31:403902008 mixed adenocarcinoma and squamous carcinoma NCI2004_11_17:C3727 Mast cell malignancy of spleen (disorder) malignant mast cell tumors involving spleen disease_ontology DOID:4831 spleen mast cell malignancy true Mast cell malignancy of spleen (disorder) SNOMEDCT_2005_07_31:188668006 malignant mast cell tumors involving spleen ICD9CM_2006:202.67 recurrent NSCLC disease_ontology DOID:4832 non small cell lung cancer recurrent true recurrent NSCLC NCI2004_11_17:C7783 relapsed Unspecified carcinoma of the lung disease_ontology DOID:4833 recurrent lung carcinoma true relapsed Unspecified carcinoma of the lung NCI2004_11_17:C8953 A syndrome that is characterized by bone loss (osteolysis) which is often associated with swelling or abnormal blood vessel growth (angiomatous proliferation). Bone loss can occur in just one bone or spread to soft tissue and adjacent bones. MESH:D010015 SNOMEDCT_US_2016_03_01:240161003 UMLS_CUI:C0029436 Disappearing bone disease (disorder) Gorham disease essential osteolysis massive osteolysis phantom bone disease disease_ontology Gorham-Stout Syndrome DOID:4837 Gorham's disease A syndrome that is characterized by bone loss (osteolysis) which is often associated with swelling or abnormal blood vessel growth (angiomatous proliferation). Bone loss can occur in just one bone or spread to soft tissue and adjacent bones. url:http://en.wikipedia.org/wiki/Gorham%27s_disease url:http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Gorham%27s%20Disease Disappearing bone disease (disorder) SNOMEDCT_2005_07_31:240161003 A carcinoma that derives_from myoepithelial cells. NCI:C7596 SNOMEDCT_US_2016_03_01:128884000 SNOMEDCT_US_2016_03_01:24292006 UMLS_CUI:C0334699 disease_ontology DOID:4838 myoepithelial carcinoma A carcinoma that derives_from myoepithelial cells. url:http://www.diagnosticpathology.org/content/3/1/7 MESH:D018266 NCI:C40310 SNOMEDCT_US_2016_03_01:307599002 SNOMEDCT_US_2016_03_01:54734006 UMLS_CUI:C0206684 Sebaceous carcinoma adenocarcinoma of the Sebaceous gland disease_ontology DOID:4839 sebaceous adenocarcinoma Sebaceous carcinoma NCI2004_11_17:C40310 adenocarcinoma of the Sebaceous gland NCI2004_11_17:C3767 MESH:D020141 SNOMEDCT_US_2016_03_01:21112004 UMLS_CUI:C0600502 disease_ontology DOID:484 vascular hemostatic disease ICD10CM:C44 NCI:C8409 SNOMEDCT_US_2016_03_01:188083002 SNOMEDCT_US_2016_03_01:255094009 UMLS_CUI:C1382026 malignant Sebaceous tumor malignant neoplasm of sebaceous gland disease_ontology DOID:4840 sebaceous carcinoma malignant Sebaceous tumor NCI2004_11_17:C8409 malignant neoplasm of sebaceous gland SNOMEDCT_2005_07_31:188083002 malignant neoplasm of sebaceous gland SNOMEDCT_2005_07_31:255094009 malignant neoplasm of sebaceous gland SNOMEDCT_2005_07_31:94000008 malignant skin Appendage neoplasm malignant tumor of epidermal appendage (disorder) disease_ontology DOID:4841 malignant tumor of epidermal appendage true malignant skin Appendage neoplasm NCI2004_11_17:C4573 malignant tumor of epidermal appendage (disorder) SNOMEDCT_2005_07_31:255093003 MESH:D018315 NCI:C3795 SNOMEDCT_US_2016_03_01:189910001 SNOMEDCT_US_2016_03_01:4553004 UMLS_CUI:C0206725 Subependymal astrocytoma Subependymal astrocytoma NOS WHO grade I Ependymal tumor mixed subependymoma-ependymoma disease_ontology DOID:4843 subependymal glioma Subependymal astrocytoma NCI2004_11_17:C6989 Subependymal astrocytoma NOS SNOMEDCT_2005_07_31:189910001 WHO grade I Ependymal tumor NCI2004_11_17:C3795 mixed subependymoma-ependymoma SNOMEDCT_2005_07_31:4553004 MESH:D004806 NCI:C3017 SNOMEDCT_US_2016_03_01:189913004 SNOMEDCT_US_2016_03_01:253066003 SNOMEDCT_US_2016_03_01:443643007 SNOMEDCT_US_2016_03_01:57706008 UMLS_CUI:C0014474 WHO grade II Ependymal tumor epithelial ependymoma disease_ontology DOID:4844 benign ependymoma WHO grade II Ependymal tumor NCI2004_11_17:C3017 epithelial ependymoma SNOMEDCT_2005_07_31:253066003 NCI:C40315 SNOMEDCT_US_2016_03_01:388600004 UMLS_CUI:C1519086 disease_ontology DOID:4845 pilomyxoid astrocytoma NCI:C5408 UMLS_CUI:C1334254 Intradural Extramedullary Astrocytic tumor of the Cauda Equina disease_ontology DOID:4846 cauda equina intradural extramedullary astrocytoma Intradural Extramedullary Astrocytic tumor of the Cauda Equina NCI2004_11_17:C5408 NCI:C5479 SNOMEDCT_US_2016_03_01:126963001 UMLS_CUI:C1263892 tumor of the Cauda Equina disease_ontology DOID:4847 cauda equina neoplasm tumor of the Cauda Equina NCI2004_11_17:C5479 NCI:C9475 UMLS_CUI:C0740480 astrocytoma of Cerebellum disease_ontology DOID:4848 cerebellar astrocytoma astrocytoma of Cerebellum NCI2004_11_17:C9475 glioma of the optic tract disease_ontology DOID:4850 glioma of visual pathway true glioma of the optic tract NCI2004_11_17:C8567 An astrocytoma that is characterized by cells that look like fibers when viewed under a microscope and is located_in the brain. MESH:D001254 NCI:C4047 SNOMEDCT_US_2016_03_01:128854008 SNOMEDCT_US_2016_03_01:189915006 SNOMEDCT_US_2016_03_01:253064000 SNOMEDCT_US_2016_03_01:67859002 UMLS_CUI:C0334583 Piloid astrocytoma grade I Astrocytic tumor disease_ontology DOID:4851 pilocytic astrocytoma An astrocytoma that is characterized by cells that look like fibers when viewed under a microscope and is located_in the brain. url:http://en.wikipedia.org/wiki/Pilocytic_astrocytoma url:http://www.cancer.gov/dictionary?CdrID=44341 Piloid astrocytoma SNOMEDCT_2005_07_31:253064000 grade I Astrocytic tumor NCI2004_11_17:C4047 NCI:C4323 SNOMEDCT_US_2016_03_01:189924002 SNOMEDCT_US_2016_03_01:78838008 UMLS_CUI:C0334586 Pleomorphic Xantho-astrocytoma disease_ontology DOID:4852 pleomorphic xanthoastrocytoma Pleomorphic Xantho-astrocytoma NCI2004_11_17:C4323 NCI:C6809 SNOMEDCT_US_2016_03_01:277507004 UMLS_CUI:C0349620 Cerebellar Pilocytic astrocytoma Pilocytic astrocytoma of cerebellum (disorder) disease_ontology DOID:4853 pilocytic astrocytoma of cerebellum Cerebellar Pilocytic astrocytoma NCI2004_11_17:C6809 Pilocytic astrocytoma of cerebellum (disorder) SNOMEDCT_2005_07_31:277507004 NCI:C5128 UMLS_CUI:C1333284 astrocytoma of Diencephalon disease_ontology DOID:4855 diencephalic astrocytomas astrocytoma of Diencephalon NCI2004_11_17:C5128 NCI:C5419 SNOMEDCT_US_2016_03_01:128909006 UMLS_CUI:C1266178 Gliofibroma (morphologic abnormality) disease_ontology DOID:4856 gliofibroma Gliofibroma (morphologic abnormality) SNOMEDCT_2005_07_31:128909006 Diffuse astrocytoma (morphologic abnormality) Diffuse astrocytoma, low grade WHO grade II astrocytoma disease_ontology DOID:4857 diffuse astrocytoma true Diffuse astrocytoma (morphologic abnormality) SNOMEDCT_2005_07_31:397381007 Diffuse astrocytoma, low grade SNOMEDCT_2005_07_31:38713004 WHO grade II astrocytoma NCI2004_11_17:C7173 NCI:C8274 UMLS_CUI:C0280795 Pineal Astrocytic tumor disease_ontology DOID:4858 pineal gland astrocytoma Pineal Astrocytic tumor NCI2004_11_17:C8274 NCI:C27505 SNOMEDCT_US_2016_03_01:403976007 UMLS_CUI:C1304511 Glomeruloid hemangioma (disorder) disease_ontology DOID:486 glomeruloid hemangioma Glomeruloid hemangioma (disorder) SNOMEDCT_2005_07_31:403976007 NCI:C7445 SNOMEDCT_US_2016_03_01:107581000119103 UMLS_CUI:C1332608 Brainstem astrocytoma disease_ontology DOID:4860 brain stem astrocytic neoplasm Brainstem astrocytoma NCI2004_11_17:C7445 NCI:C4641 SNOMEDCT_US_2016_03_01:254948003 UMLS_CUI:C0349540 Spinal astrocytoma astrocytoma of spinal cord (disorder) disease_ontology DOID:4863 spinal cord astrocytoma Spinal astrocytoma NCI2004_11_17:C4641 astrocytoma of spinal cord (disorder) SNOMEDCT_2005_07_31:254948003 A viral infectious disease that results_in infection, has_material_basis_in Rubella virus, which is transmitted_by direct contact with the infected person through coughing and sneezing, and transmitted_by congenital method. Rubivirus infectious disease disease_ontology DOID:4864 Rubella virus infectious disease true A viral infectious disease that results_in infection, has_material_basis_in Rubella virus, which is transmitted_by direct contact with the infected person through coughing and sneezing, and transmitted_by congenital method. url:http://www.ictvdb.org/ICTVdB/00.073.0.02.htm A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Togaviridae viruses. disease_ontology DOID:4865 Togaviridae infectious disease true A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Togaviridae viruses. url:http://en.wikipedia.org/wiki/Togaviridae A salivary gland carcinoma that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes. MESH:D003528 NCI:C2970 SNOMEDCT_US_2016_03_01:11671000 SNOMEDCT_US_2016_03_01:189594000 SNOMEDCT_US_2016_03_01:302827006 UMLS_CUI:C0010606 Cylindroma (morphologic abnormality) Cylindroma NOS adenoid cystic cancer adenoid cystic carcinoma (morphologic abnormality) disease_ontology DOID:4866 salivary gland adenoid cystic carcinoma A salivary gland carcinoma that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes. url:http://www.cigna.com/healthinfo/nord1109.html Cylindroma (morphologic abnormality) SNOMEDCT_2005_07_31:302827006 Cylindroma NOS SNOMEDCT_2005_07_31:189594000 adenoid cystic cancer NCI2004_11_17:C2970 adenoid cystic carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:11671000 NCI:C6346 UMLS_CUI:C1332911 adenoid cystic carcinoma of the Cervix Uteri disease_ontology DOID:4867 cervical adenoid cystic carcinoma adenoid cystic carcinoma of the Cervix Uteri NCI2004_11_17:C6346 NCI:C5539 UMLS_CUI:C1335502 adenoid cystic carcinoma of the prostate disease_ontology adenoid cystic carcinoma of prostate DOID:4868 prostate adenoid cystic carcinoma adenoid cystic carcinoma of the prostate NCI2004_11_17:C5539 NCI:C9462 UMLS_CUI:C1334368 adenoid cystic carcinoma of Larynx disease_ontology DOID:4869 laryngeal adenoid cystic carcinoma adenoid cystic carcinoma of Larynx NCI2004_11_17:C9462 NCI:C4540 SNOMEDCT_US_2016_03_01:254987003 UMLS_CUI:C0346340 disease_ontology adenoid cystic carcinoma of lacrimal gland DOID:4870 lacrimal gland adenoid cystic carcinoma NCI:C4471 SNOMEDCT_US_2016_03_01:254711000 SNOMEDCT_US_2016_03_01:399968001 UMLS_CUI:C0346017 adenoid cystic carcinoma of the skin adenoid cystic eccrine carcinoma (morphologic abnormality) adenoid cystic eccrine carcinoma of skin (disorder) disease_ontology DOID:4871 cutaneous adenocystic carcinoma adenoid cystic carcinoma of the skin NCI2004_11_17:C4471 adenoid cystic eccrine carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:399968001 adenoid cystic eccrine carcinoma of skin (disorder) SNOMEDCT_2005_07_31:254711000 NCI:C5666 UMLS_CUI:C1334439 pulmonary adenoid cystic carcinoma disease_ontology adenoid cystic carcinoma of lung DOID:4872 lung adenoid cystic carcinoma pulmonary adenoid cystic carcinoma NCI2004_11_17:C5666 ICD9CM:335 ICD9CM:335.9 MESH:D016472 SNOMEDCT_US_2016_03_01:155014006 SNOMEDCT_US_2016_03_01:192884004 SNOMEDCT_US_2016_03_01:192892008 SNOMEDCT_US_2016_03_01:267693003 SNOMEDCT_US_2016_03_01:85672005 UMLS_CUI:C0154681 disease_ontology DOID:4873 anterior horn cell disease NCI:C6051 SNOMEDCT_US_2016_03_01:254619006 UMLS_CUI:C0345945 Tracheal adenoid cystic carcinoma adenoid cystic carcinoma of trachea (disorder) disease_ontology adenoid cystic carcinoma of trachea DOID:4875 trachea adenoid cystic carcinoma Tracheal adenoid cystic carcinoma NCI2004_11_17:C6051 adenoid cystic carcinoma of trachea (disorder) SNOMEDCT_2005_07_31:254619006 A tracheal cancer that effects the airway that leads from the larynx to the bronchi. SNOMEDCT_US_2016_03_01:154486000 SNOMEDCT_US_2016_03_01:269562004 UMLS_CUI:C0848879 (Trachea carcinoma) or (Pancoast's tumor) or (Ca trachea) disease_ontology carcinoma of the trachea DOID:4876 trachea carcinoma A tracheal cancer that effects the airway that leads from the larynx to the bronchi. url:http://nci.nih.gov/dictionary/?CdrID=46623 (Trachea carcinoma) or (Pancoast's tumor) or (Ca trachea) SNOMEDCT_2005_07_31:154486000 (Trachea carcinoma) or (Pancoast's tumor) or (Ca trachea) SNOMEDCT_2005_07_31:269562004 NCI:C5130 UMLS_CUI:C1332167 Mammary Adenocystic carcinoma disease_ontology adenoid cystic carcinoma of breast DOID:4877 breast adenoid cystic carcinoma Mammary Adenocystic carcinoma NCI2004_11_17:C5130 An esophageal carcinoma that derives_from epithelial cells of the salivary gland. NCI:C5342 UMLS_CUI:C1333441 adenoid cystic carcinoma, esophagus disease_ontology DOID:4878 esophageal adenoid cystic carcinoma An esophageal carcinoma that derives_from epithelial cells of the salivary gland. url:http://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma adenoid cystic carcinoma, esophagus NCI2004_11_17:C5342 NCI:C40295 UMLS_CUI:C1511047 Bartholin gland adenoid cystic carcinoma disease_ontology DOID:4879 Bartholin's gland adenoid cystic carcinoma bone vascular neoplasm osseous vascular tumor disease_ontology DOID:488 malignant bone vascular tumor true osseous vascular tumor NCI2004_11_17:C6478 A kidney sarcoma that has_material_basis_in clear cells that are characterized as cells that look clear when viewed under a microscope. DOID:7745 NCI:C4264 SNOMEDCT_US_2016_03_01:189813000 SNOMEDCT_US_2016_03_01:24007003 UMLS_CUI:C0334488 Clear cell sarcoma of kidney (morphologic abnormality) Clear cell sarcoma of kidney (morphologic abnormality) childhood kidney clear cell sarcoma pediatric renal Clear cell sarcoma renal Clear cell sarcoma disease_ontology DOID:4880 kidney clear cell sarcoma A kidney sarcoma that has_material_basis_in clear cells that are characterized as cells that look clear when viewed under a microscope. url:http://en.wikipedia.org/wiki/Clear-cell_sarcoma_of_the_kidney url:http://www.cancer.gov/dictionary?CdrID=44997 Clear cell sarcoma of kidney (morphologic abnormality) SNOMEDCT_2005_07_31:189813000 Clear cell sarcoma of kidney (morphologic abnormality) SNOMEDCT_2005_07_31:24007003 pediatric renal Clear cell sarcoma NCI2004_11_17:C6564 renal Clear cell sarcoma NCI2004_11_17:C4264 disease_ontology DOID:4882 pediatric soft part clear cell sarcoma true neoplasm of peritoneum (disorder) peritoneal neoplasm peritoneum neoplasm disease_ontology DOID:4884 peritoneal neoplasm true neoplasm of peritoneum (disorder) SNOMEDCT_2005_07_31:126865007 peritoneal neoplasm NCI2004_11_17:C3322 peritoneum neoplasm CSP2005:2005-3788 A viral infectious disease that results_in infection, has_material_basis_in Colorado tick fever virus, which is transmitted_by rocky mountain wood tick, Dermacentor andersoni. The infection has_symptom fever for 2-3 days, followed by an afebrile period of similar duration and then another 2-3 days of fever, has_symptom headache, has_symptom myalgia, and has_symptom fatigue. ICD10CM:A93.2 MESH:D003121 SNOMEDCT_US_2016_03_01:186607005 SNOMEDCT_US_2016_03_01:6452009 UMLS_CUI:C0009400 Tick fever, American mountain disease_ontology DOID:4885 Colorado tick fever A viral infectious disease that results_in infection, has_material_basis_in Colorado tick fever virus, which is transmitted_by rocky mountain wood tick, Dermacentor andersoni. The infection has_symptom fever for 2-3 days, followed by an afebrile period of similar duration and then another 2-3 days of fever, has_symptom headache, has_symptom myalgia, and has_symptom fatigue. url:http://emedicine.medscape.com/article/786688-overview Tick fever, American mountain MTHICD9_2006:066.1 A Reoviridae infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Rotavirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom fever, has_symptom vomiting, has_symptom diarrhea, and has_symptom abdominal pain. disease_ontology DOID:4887 Rotavirus infectious disease true A Reoviridae infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Rotavirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom fever, has_symptom vomiting, has_symptom diarrhea, and has_symptom abdominal pain. url:http://www.cdc.gov/rotavirus/about/symptoms.html An extrapulmonary tuberculosis that is located_in lymph node, and has_symptom lymphadenopathy, has_symptom fever, has_symptom weight loss, has_symptom fatigue, has_symptom night sweats and has_symptom cough. DOID:4888 ICD10CM:A18.2 MESH:D014388 MESH:D018601 NCI:C26896 SNOMEDCT_US_2016_03_01:10893003 SNOMEDCT_US_2016_03_01:186260002 UMLS_CUI:C0041316 UMLS_CUI:C0242830 Lymph Node Tuberculosis Tuberculous adenitis Tuberculous lymphadenopathy king's evil scrofula disease_ontology DOID:4889 lymph node tuberculosis An extrapulmonary tuberculosis that is located_in lymph node, and has_symptom lymphadenopathy, has_symptom fever, has_symptom weight loss, has_symptom fatigue, has_symptom night sweats and has_symptom cough. url:http://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf Lymph Node Tuberculosis NCI2004_11_17:C26896 Tuberculous adenitis MTHICD9_2006:017.2 Tuberculous adenitis SNOMEDCT_2005_07_31:186260002 Tuberculous lymphadenopathy SNOMEDCT_2005_07_31:10893003 A adolescence-adult electroclinical syndrome that is characterized by brief, involuntary twitching of a muscle or a group of muscles (myoclonus) early in the morning with onset between 12 and 18 years. DOID:0050326 MESH:D020190 NCI:C84796 OMIM:254770 OMIM:607631 OMIM:608816 OMIM:611364 OMIM:614280 ORDO:862 SNOMEDCT_US_2016_03_01:6204001 UMLS_CUI:C0270853 Janz syndrome disease_ontology DOID:4890 Xref MGI. OMIM mapping confirmed by DO. [SN]. juvenile myoclonic epilepsy A adolescence-adult electroclinical syndrome that is characterized by brief, involuntary twitching of a muscle or a group of muscles (myoclonus) early in the morning with onset between 12 and 18 years. url:http://en.wikipedia.org/wiki/Juvenile_myoclonic_epilepsy url:http://www.epilepsy.com/epilepsy/epilepsy_juvenilemyoclonic url:http://www.ilae-epilepsy.org/Visitors/Documents/EngelClassificationRepo A middle ear carcinoma that derives_from epithelial cells of glandular origin. NCI:C6848 UMLS_CUI:C1334758 adenocarcinoma of the middle ear disease_ontology adenocarcinoma of middle ear DOID:4892 middle ear adenocarcinoma A middle ear carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma adenocarcinoma of the middle ear NCI2004_11_17:C6848 A middle ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. NCI:C6089 UMLS_CUI:C1334760 carcinoma of the middle ear disease_ontology carcinoma of middle ear DOID:4893 middle ear carcinoma A middle ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma carcinoma of the middle ear NCI2004_11_17:C6089 NCI:C40017 SNOMEDCT_US_2016_03_01:703655009 UMLS_CUI:C3840223 disease_ontology DOID:4894 rete ovarii adenocarcinoma NCI:C40016 UMLS_CUI:C1514909 disease_ontology DOID:4895 rete ovarii neoplasm A bile duct carcinoma that derives_from epithelial cells of glandular origin. NCI:C27813 SNOMEDCT_US_2016_03_01:70179006 UMLS_CUI:C1370800 disease_ontology DOID:4896 bile duct adenocarcinoma A bile duct carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma A bile duct cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. MESH:D001650 NCI:C27814 SNOMEDCT_US_2016_03_01:70179006 UMLS_CUI:C0740277 disease_ontology DOID:4897 bile duct carcinoma A bile duct cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://www.cancer.org/docroot/cri/content/cri_2_4_1x_what_is_bile_duct_cancer_69.asp adenocarcinoma in adenomatous polyp adenocarcinoma in adenomatous polyp (morphologic abnormality) disease_ontology DOID:4898 adenocarcinoma in a polyp true adenocarcinoma in adenomatous polyp NCI2004_11_17:C7676 adenocarcinoma in adenomatous polyp (morphologic abnormality) SNOMEDCT_2005_07_31:43233001 pulmonary hemangioma disease_ontology DOID:490 hemangioma of lung pulmonary hemangioma NCI2004_11_17:C7747 mixed cell adenocarcinoma mixed cell adenocarcinoma (morphologic abnormality) disease_ontology DOID:4900 mixed cell adenocarcinoma true mixed cell adenocarcinoma NCI2004_11_17:C4158 mixed cell adenocarcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:38958001 NCI:C40023 UMLS_CUI:C1514429 primary peritoneal serous adenocarcinoma disease_ontology DOID:4901 peritoneal serous adenocarcinoma An appendix cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. NCI:C9330 SNOMEDCT_US_2016_03_01:154462002 SNOMEDCT_US_2016_03_01:269541000 UMLS_CUI:C0728951 (Ca appendix) or (appendix carcinoma) Ca appendix carcinoma of appendix disease_ontology DOID:4902 appendix carcinoma An appendix cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma (Ca appendix) or (appendix carcinoma) SNOMEDCT_2005_07_31:154462002 Ca appendix SNOMEDCT_2005_07_31:269541000 carcinoma of appendix NCI2004_11_17:C9330 A carcinoma that derives_from epithelial cells, with polygonal accumulation of secondary lysosomes in the cytoplasm. MESH:D000230 NCI:C3681 SNOMEDCT_US_2016_03_01:69028005 UMLS_CUI:C0205644 granular cell adenocarcinoma granular cell carcinoma (morphologic abnormality) disease_ontology DOID:4903 granular cell carcinoma A carcinoma that derives_from epithelial cells, with polygonal accumulation of secondary lysosomes in the cytoplasm. url:http://en.wikipedia.org/wiki/Granular_cell_tumor granular cell adenocarcinoma NCI2004_11_17:C3681 granular cell carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:69028005 adenocarcinoma, intestinal type (morphologic abnormality) disease_ontology DOID:4904 intestinal type carcinoma true adenocarcinoma, intestinal type (morphologic abnormality) SNOMEDCT_2005_07_31:25190001 A pancreas cancer that derives_from epithelial cells located_in the pancreas. EFO:0002618 MESH:C562463 NCI:C3850 OMIM:260350 SNOMEDCT_US_2016_03_01:154475002 SNOMEDCT_US_2016_03_01:255089009 SNOMEDCT_US_2016_03_01:372142002 SNOMEDCT_US_2016_03_01:93938001 UMLS_CUI:C0235974 Exocrine pancreas carcinoma carcinoma of pancreas carcinoma of pancreas (disorder) disease_ontology Pancreatic carcinoma, familial exocrine cancer DOID:4905 OMIM mapping confirmed by DO. [SN]. pancreatic carcinoma A pancreas cancer that derives_from epithelial cells located_in the pancreas. url:http://en.wikipedia.org/wiki/Carcinoma url:http://www.cancer.gov/cancertopics/types/pancreatic Exocrine pancreas carcinoma NCI2004_11_17:C3850 carcinoma of pancreas SNOMEDCT_2005_07_31:154475002 carcinoma of pancreas SNOMEDCT_2005_07_31:255089009 carcinoma of pancreas SNOMEDCT_2005_07_31:93938001 carcinoma of pancreas (disorder) SNOMEDCT_2005_07_31:372142002 Pancreatic carcinoma, familial MESH:C535837 A small intestine carcinoma that derives_from epithelial cells of glandular origin. NCI:C7888 SNOMEDCT_US_2016_03_01:424440001 UMLS_CUI:C0278803 small intestinal adenocarcinoma disease_ontology adenocarcinoma of small Intestine DOID:4906 small intestine adenocarcinoma A small intestine carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma small intestinal adenocarcinoma NCI2004_11_17:C7888 A small intestine cancer that develops from epithelial cells and is located_in the small intestine. NCI:C7724 UMLS_CUI:C0238196 small intestinal carcinoma disease_ontology cancer of the small bowel small bowel cancer DOID:4907 small intestine carcinoma A small intestine cancer that develops from epithelial cells and is located_in the small intestine. url:http://en.wikipedia.org/wiki/Small_intestine_cancer small intestinal carcinoma NCI2004_11_17:C7724 A anus cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anus. MESH:D001005 NCI:C9291 SNOMEDCT_US_2016_03_01:154467008 SNOMEDCT_US_2016_03_01:187762000 SNOMEDCT_US_2016_03_01:255084004 SNOMEDCT_US_2016_03_01:269546005 UMLS_CUI:C0279637 Ca anus carcinoma of anus disease_ontology DOID:4908 anal carcinoma A anus cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anus. url:http://en.wikipedia.org/wiki/Anal_cancer Ca anus SNOMEDCT_2005_07_31:269546005 carcinoma of anus NCI2004_11_17:C9291 An urethra cancer that derives_from epithelial cells of glandular origin. NCI:C6167 UMLS_CUI:C1336885 adenocarcinoma of the urethra disease_ontology DOID:4910 urethra adenocarcinoma An urethra cancer that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma adenocarcinoma of the urethra NCI2004_11_17:C6167 Superficial Spreading adenocarcinoma Superficial spreading adenocarcinoma (morphologic abnormality) disease_ontology DOID:4911 superficial spreading adenocarcinoma true Superficial Spreading adenocarcinoma NCI2004_11_17:C4125 Superficial spreading adenocarcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:81446001 Disseminated adenocarcinoma Disseminated adenocarcinoma (morphologic abnormality) disease_ontology DOID:4912 disseminated adenocarcinoma true Disseminated adenocarcinoma NCI2004_11_17:C27185 Disseminated adenocarcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:301036008 An esophageal carcinoma that derives_from epithelial cells of glandular origin. MESH:C562730 NCI:C4025 SNOMEDCT_US_2016_03_01:276803003 UMLS_CUI:C0279628 Oesophageal adenocarcinoma NOS adenocarcinoma of esophagus (disorder) disease_ontology adenocarcinoma of esophagus DOID:4914 esophagus adenocarcinoma An esophageal carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma Oesophageal adenocarcinoma NOS NCI2004_11_17:C4025 adenocarcinoma of esophagus (disorder) SNOMEDCT_2005_07_31:276803003 NCI:C4150 SNOMEDCT_US_2016_03_01:47107000 UMLS_CUI:C0334314 Basophil adenocarcinoma Basophil carcinoma (morphologic abnormality) disease_ontology DOID:4915 basophilic carcinoma Basophil adenocarcinoma NCI2004_11_17:C27392 Basophil carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:47107000 MESH:D010911 NCI:C4536 SNOMEDCT_US_2016_03_01:128665000 SNOMEDCT_US_2016_03_01:254955001 UMLS_CUI:C0346300 carcinoma of the Pituitary gland disease_ontology DOID:4916 pituitary carcinoma carcinoma of the Pituitary gland NCI2004_11_17:C4536 An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, with villous architecture. NCI:C4142 SNOMEDCT_US_2016_03_01:28558000 UMLS_CUI:C0334306 villous adenocarcinoma (morphologic abnormality) disease_ontology DOID:4917 villous adenocarcinoma An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, with villous architecture. url:http://www.ncbi.nlm.nih.gov/pubmed/15489649 villous adenocarcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:28558000 A renal pelvis carcinoma that derives_from epithelial cells of glandular origin. NCI:C6143 UMLS_CUI:C1335748 adenocarcinoma of the kidney Pelvis disease_ontology adenocarcinoma of renal pelvis DOID:4918 renal pelvis adenocarcinoma A renal pelvis carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma adenocarcinoma of the kidney Pelvis NCI2004_11_17:C6143 DOID:12343 ICD10CM:C65 ICD9CM:189.1 NCI:C6142 NCI:C7525 SNOMEDCT_US_2016_03_01:188254006 SNOMEDCT_US_2016_03_01:363457009 SNOMEDCT_US_2016_03_01:93985007 UMLS_CUI:C0153618 UMLS_CUI:C1335749 carcinoma of kidney Pelvis malignant neoplasm of renal pelvis malignant neoplasm of renal pelvis NOS (disorder) malignant renal Pelvis neoplasm malignant tumor of renal pelvis (disorder) renal pelvis cancer disease_ontology DOID:4919 renal pelvis carcinoma carcinoma of kidney Pelvis NCI2004_11_17:C6142 malignant neoplasm of renal pelvis ICD9CM_2006:189.1 SNOMEDCT_2005_07_31:93985007 malignant neoplasm of renal pelvis NOS (disorder) SNOMEDCT_2005_07_31:188254006 malignant renal Pelvis neoplasm NCI2004_11_17:C7525 malignant tumor of renal pelvis (disorder) SNOMEDCT_2005_07_31:363457009 NCI:C27018 UMLS_CUI:C0856897 disease_ontology DOID:492 acquired hemangioma An eccrine sweat gland cancer that derives_from epithelial cells of glandular origin. SNOMEDCT_US_2016_03_01:128686000 UMLS_CUI:C1266066 Eccrine adenocarcinoma Eccrine adenocarcinoma (morphologic abnormality) disease_ontology DOID:4920 eccrine adenocarcinoma An eccrine sweat gland cancer that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma Eccrine adenocarcinoma NCI2004_11_17:C27255 Eccrine adenocarcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:128686000 NCI:C5559 UMLS_CUI:C1334577 malignant Eccrine tumor malignant eccrine skin neoplasm disease_ontology DOID:4921 eccrine sweat gland cancer malignant Eccrine tumor NCI2004_11_17:C5559 DOID:6586 MESH:C537535 NCI:C4189 SNOMEDCT_US_2016_03_01:41919003 UMLS_CUI:C0334371 Juvenile Secretory carcinoma of breast Juvenile carcinoma of the breast (morphologic abnormality) juvenile breast carcinoma disease_ontology juvenile carcinoma of the breast DOID:4922 breast secretory carcinoma Juvenile Secretory carcinoma of breast NCI2004_11_17:C4189 Juvenile carcinoma of the breast (morphologic abnormality) SNOMEDCT_2005_07_31:41919003 A thymic carcinoma that derives_from epithelial cells of glandular origin. NCI:C6459 UMLS_CUI:C1336743 adenocarcinoma of the Thymus disease_ontology DOID:4923 thymus adenocarcinoma A thymic carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma adenocarcinoma of the Thymus NCI2004_11_17:C6459 A human papillomavirus related carcinoma that results_in infection, has_material_basis_in human papillomaviruses (types 16, 18, 31, 39 or 45), which cause lesions that progress to cancers. HPV-Related adenocarcinoma disease_ontology DOID:4924 human papillomavirus related adenocarcinoma true A human papillomavirus related carcinoma that results_in infection, has_material_basis_in human papillomaviruses (types 16, 18, 31, 39 or 45), which cause lesions that progress to cancers. url:http://www.springerlink.com/content/7652866m7198p524/fulltext.pdf HPV-Related adenocarcinoma NCI2004_11_17:C27684 A papillomavirus infectious disease that results_in infection, has_material_basis_in human papillomavirus (types 16, 18, 31, 32 or 33), which cause intraepithelial lesions that may progress to carcinomas. HPV-Related carcinoma disease_ontology DOID:4925 human papillomavirus related carcinoma true A papillomavirus infectious disease that results_in infection, has_material_basis_in human papillomavirus (types 16, 18, 31, 32 or 33), which cause intraepithelial lesions that may progress to carcinomas. url:http://emedicine.medscape.com/article/219110-overview HPV-Related carcinoma NCI2004_11_17:C27674 MESH:D002282 NCI:C2923 SNOMEDCT_US_2016_03_01:112677002 SNOMEDCT_US_2016_03_01:307595008 SNOMEDCT_US_2016_03_01:36310008 SNOMEDCT_US_2016_03_01:373627005 UMLS_CUI:C0007120 Alveolar adenocarcinoma (morphologic abnormality) Bronchioalveolar lung carcinoma Bronchiolo-alveolar adenocarcinoma (morphologic abnormality) Bronchioloalveolar adenocarcinoma Bronchioloalveolar carcinoma (disorder) disease_ontology DOID:4926 bronchiolo-alveolar adenocarcinoma Alveolar adenocarcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:36310008 Bronchioalveolar lung carcinoma NCI2004_11_17:C2923 Bronchiolo-alveolar adenocarcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:112677002 Bronchioloalveolar adenocarcinoma SNOMEDCT_2005_07_31:307595008 Bronchioloalveolar carcinoma (disorder) SNOMEDCT_2005_07_31:373627005 MESH:D018285 NCI:C36077 SNOMEDCT_US_2016_03_01:253017000 SNOMEDCT_US_2016_03_01:6492006 UMLS_CUI:C0206702 Klatskin tumor Perihilar extrahepatic bile duct carcinoma hilar cholangiocarcinoma disease_ontology DOID:4927 Klatskin's tumor Perihilar extrahepatic bile duct carcinoma NCI2004_11_17:C5859 ICD10CM:C22.1 MESH:D018281 NCI:C35417 SNOMEDCT_US_2016_03_01:109842005 UMLS_CUI:C0345905 Intrahepatic bile duct carcinoma (disorder) peripheral Cholangiocarcinoma disease_ontology DOID:4928 intrahepatic cholangiocarcinoma Intrahepatic bile duct carcinoma (disorder) SNOMEDCT_2005_07_31:109842005 peripheral Cholangiocarcinoma NCI2004_11_17:C35417 An adenocarcinoma that derives_from epithelial cells originating in glandular tissue. The tumor has branched angular tubules embedded in a loose fibrous stroma. MESH:D000230 NCI:C65192 SNOMEDCT_US_2016_03_01:4631006 UMLS_CUI:C0205645 tubular adenocarcinoma (morphologic abnormality) tubular carcinoma disease_ontology DOID:4929 tubular adenocarcinoma An adenocarcinoma that derives_from epithelial cells originating in glandular tissue. The tumor has branched angular tubules embedded in a loose fibrous stroma. url:http://onlinelibrary.wiley.com/store/10.1002/dc.2161/asset/2161_ftp.pdf?v=1&t=gpju9amb&s=f4e446d3a3c1e806325be5d11994dc6fb4670edf tubular adenocarcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:4631006 tubular carcinoma NCI2004_11_17:C3682 A nasal cavity carcinoma that derives_from epithelial cells of glandular origin. NCI:C6015 UMLS_CUI:C1334920 adenocarcinoma of the nasal cavity disease_ontology adenocarcinoma of nasal cavity DOID:4930 nasal cavity adenocarcinoma A nasal cavity carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma adenocarcinoma of the nasal cavity NCI2004_11_17:C6015 A nasal cavity cancer that_has_material_basis_in epithelial cells. NCI:C9336 UMLS_CUI:C1377785 cancer of nasal cavity disease_ontology carcinoma of nasal cavity DOID:4931 nasal cavity carcinoma A nasal cavity cancer that_has_material_basis_in epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma cancer of nasal cavity NCI2004_11_17:C9336 An ampulla of Vater cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. NCI:C3908 SNOMEDCT_US_2016_03_01:254609000 UMLS_CUI:C0262401 ampulla of vater cancer ampullary carcinoma carcinoma of ampulla of vater (disorder) disease_ontology DOID:4932 ampulla of Vater carcinoma An ampulla of Vater cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma ampulla of vater cancer NCI2004_11_17:C3908 carcinoma of ampulla of vater (disorder) SNOMEDCT_2005_07_31:254609000 An apocrine sweat gland cancer that derives_from epithelial cells of glandular origin. DOID:5571 SNOMEDCT_US_2016_03_01:57141000 UMLS_CUI:C0334346 Apocrine adenocarcinoma (morphologic abnormality) Apocrine carcinoma apocrine gland carcinoma carcinoma of the Apocrine gland disease_ontology DOID:4933 apocrine adenocarcinoma An apocrine sweat gland cancer that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma Apocrine adenocarcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:57141000 Apocrine carcinoma NCI2004_11_17:C4169 carcinoma of the Apocrine gland NCI2004_11_17:C5575 NCI:C6800 UMLS_CUI:C1334561 malignant Apocrine tumor disease_ontology DOID:4934 apocrine sweat gland cancer malignant Apocrine tumor NCI2004_11_17:C6800 Acidophil carcinoma (morphologic abnormality) Eosinophil carcinoma disease_ontology DOID:4935 acidophil carcinoma true Acidophil carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:51217003 Eosinophil carcinoma NCI2004_11_17:C4147 mixed acidophil-basophil carcinoma (morphologic abnormality) disease_ontology DOID:4936 mixed eosinophil-basophil carcinoma true mixed acidophil-basophil carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:23444003 Follicular carcinoma, oxyphilic cell Hurthle cell adenocarcinoma disease_ontology DOID:4937 oxyphilic adenocarcinoma true Follicular carcinoma, oxyphilic cell SNOMEDCT_2005_07_31:57596004 Hurthle cell adenocarcinoma NCI2004_11_17:C3679 An ureter carcinoma that derives_from epithelial cells of glandular origin. NCI:C6155 UMLS_CUI:C1336873 ureteral adenocarcinoma disease_ontology adenocarcinoma of ureter DOID:4938 ureter adenocarcinoma An ureter carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma ureteral adenocarcinoma NCI2004_11_17:C6155 An ureter cancer that is located_in the ureter. NCI:C8993 UMLS_CUI:C0600079 ureteral carcinoma disease_ontology DOID:4939 ureter carcinoma An ureter cancer that is located_in the ureter. url:http://www.mayoclinic.org/ureter-cancer/ ureteral carcinoma NCI2004_11_17:C8993 Combined hepatocellular carcinoma and cholangiocarcinoma (disorder) Combined hepatocellular carcinoma and cholangiocarcinoma (morphologic abnormality) carcinoma of Liver and Intrahepatic biliary tract disease_ontology DOID:4942 combined hepatocellular carcinoma and cholangiocarcinoma true Combined hepatocellular carcinoma and cholangiocarcinoma (disorder) SNOMEDCT_2005_07_31:274902006 Combined hepatocellular carcinoma and cholangiocarcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:52178006 carcinoma of Liver and Intrahepatic biliary tract NCI2004_11_17:C3828 MESH:D065311 NCI:C4123 SNOMEDCT_US_2016_03_01:51642000 UMLS_CUI:C0334276 disease_ontology DOID:4943 adenocarcinoma in situ NCI:C9296 UMLS_CUI:C1332166 adenocarcinoma of Cardioesophageal junction disease_ontology adenocarcinoma of gastroesophageal junction DOID:4944 gastroesophageal junction adenocarcinoma adenocarcinoma of Cardioesophageal junction NCI2004_11_17:C9296 A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells. DOID:5249 ICD10CM:C22.1 MESH:D018281 NCI:C4436 NCI:C8265 SNOMEDCT_US_2016_03_01:312104005 SNOMEDCT_US_2016_03_01:70179006 UMLS_CUI:C0206698 UMLS_CUI:C0280725 adult primary Cholangiocarcinoma adult primary cholangiocellular carcinoma cholangiosarcoma disease_ontology DOID:4947 cholangiocarcinoma A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells. url:http://cancergenome.nih.gov/cancersselected/Cholangiocarcinoma url:http://en.wikipedia.org/wiki/Cholangiocarcinoma url:http://www.cancer.gov/dictionary?CdrID=335064 adult primary Cholangiocarcinoma NCI2004_11_17:C8265 cholangiosarcoma NCI2004_11_17:C4436 A gallbladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. NCI:C3844 SNOMEDCT_US_2016_03_01:187782001 SNOMEDCT_US_2016_03_01:255085003 SNOMEDCT_US_2016_03_01:372140005 SNOMEDCT_US_2016_03_01:93810008 UMLS_CUI:C0235782 cancer of the gallbladder carcinoma gallbladder carcinoma of gallbladder (disorder) disease_ontology DOID:4948 gallbladder carcinoma A gallbladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://nci.nih.gov/cancertopics/types/gallbladder/ cancer of the gallbladder NCI2004_11_17:C3844 carcinoma gallbladder SNOMEDCT_2005_07_31:187782001 carcinoma gallbladder SNOMEDCT_2005_07_31:255085003 carcinoma gallbladder SNOMEDCT_2005_07_31:93810008 carcinoma of gallbladder (disorder) SNOMEDCT_2005_07_31:372140005 SNOMEDCT_US_2016_03_01:134302009 SNOMEDCT_US_2016_03_01:72079004 UMLS_CUI:C1509148 Sclerosing haemangioma Sclerosing hemangioma disease_ontology DOID:495 sclerosing hemangioma Sclerosing haemangioma SNOMEDCT_2005_07_31:134302009 Sclerosing haemangioma SNOMEDCT_2005_07_31:72079004 Sclerosing hemangioma MTH:NOCODE A poliomyelitis that results_in atrophy located_in muscle, many years after the initial infection, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3. It is characterized by new weakening in muscles that were previously affected by the polio infection and in muscles that were unaffected. The infection has_symptom muscle weakness, has_symptom muscle pain, has_symptom sleep apnea, and has_symptom breathing problems. ICD10CM:G14 MESH:D016262 SNOMEDCT_US_2016_03_01:31097004 SNOMEDCT_US_2016_03_01:367094007 UMLS_CUI:C0080040 Postpolio syndrome disease_ontology DOID:4952 postpoliomyelitis syndrome A poliomyelitis that results_in atrophy located_in muscle, many years after the initial infection, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3. It is characterized by new weakening in muscles that were previously affected by the polio infection and in muscles that were unaffected. The infection has_symptom muscle weakness, has_symptom muscle pain, has_symptom sleep apnea, and has_symptom breathing problems. url:http://en.wikipedia.org/wiki/Postpolio_syndrome url:http://www.mayoclinic.com/health/post-polio-syndrome/DS00494/DSECTION=symptoms Postpolio syndrome SNOMEDCT_2005_07_31:367094007 A viral infectious disease that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, has_symptom muscle spasms, and has_symptom acute flaccid paralysis. ICD10CM:A80 ICD10CM:A80.9 ICD9CM:045 ICD9CM:045.9 MESH:D011051 NCI:C35550 SNOMEDCT_US_2016_03_01:154320008 SNOMEDCT_US_2016_03_01:186475007 SNOMEDCT_US_2016_03_01:186481004 SNOMEDCT_US_2016_03_01:187390004 SNOMEDCT_US_2016_03_01:266189002 SNOMEDCT_US_2016_03_01:367318001 SNOMEDCT_US_2016_03_01:398102009 SNOMEDCT_US_2016_03_01:398256009 SNOMEDCT_US_2016_03_01:54839009 UMLS_CUI:C0032371 disease_ontology DOID:4953 poliomyelitis A viral infectious disease that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, has_symptom muscle spasms, and has_symptom acute flaccid paralysis. url:http://en.wikipedia.org/wiki/Poliomyelitis url:http://www.cdc.gov/vaccines/pubs/pinkbook/downloads/polio.pdf url:http://www.mayoclinic.com/health/polio/DS00572/DSECTION=symptoms DOID:4954 NCI:C4661 NCI:C5504 SNOMEDCT_US_2016_03_01:277523004 UMLS_CUI:C0349623 UMLS_CUI:C1332887 melanocytic tumor of the CNS disease_ontology central nervous system primary melanocytic lesion primary melanocytic Lesions of the CNS primary melanocytic lesion of meninges DOID:4955 central nervous system melanocytic neoplasm melanocytic tumor of the CNS NCI2004_11_17:C5504 primary melanocytic Lesions of the CNS NCI2004_11_17:C4661 primary melanocytic lesion of meninges SNOMEDCT_2005_07_31:277523004 tumor of leptomeninges disease_ontology DOID:4956 leptomeningeal neoplasm true tumor of leptomeninges NCI2004_11_17:C4958 NCI:C4660 SNOMEDCT_US_2016_03_01:277522009 UMLS_CUI:C0349622 Meningeal hemangiopericytoma hemangiopericytoma of meninges (disorder) disease_ontology DOID:4957 meninges hemangiopericytoma Meningeal hemangiopericytoma NCI2004_11_17:C4660 hemangiopericytoma of meninges (disorder) SNOMEDCT_2005_07_31:277522009 A hemangiopericytoma which is manifested in the central nervous system. disease_ontology DOID:4958 central nervous system hemangiopericytoma true A hemangiopericytoma which is manifested in the central nervous system. url:http://en.wikipedia.org/wiki/Hemangiopericytoma url:http://www.ncbi.nlm.nih.gov/pubmed/1985083 ICD10CM:Q81.2 MESH:D016108 NCI:C84691 SNOMEDCT_US_2016_03_01:205587006 SNOMEDCT_US_2016_03_01:254185007 UMLS_CUI:C0079294 Dystrophic epidermolysis bullosa disease_ontology DOID:4959 epidermolysis bullosa dystrophica Dystrophic epidermolysis bullosa SNOMEDCT_2005_07_31:205587006 NCI:C4754 SNOMEDCT_US_2016_03_01:128769003 SNOMEDCT_US_2016_03_01:134304005 SNOMEDCT_US_2016_03_01:403967000 UMLS_CUI:C1304508 SCH spindle cell angioendothelioma spindle cell hemangioendothelioma [dup] (morphologic abnormality) spindle cell hemangioma (disorder) disease_ontology DOID:496 spindle cell hemangioma SCH NCI2004_11_17:C4754 spindle cell angioendothelioma SNOMEDCT_2005_07_31:128769003 spindle cell hemangioendothelioma [dup] (morphologic abnormality) SNOMEDCT_2005_07_31:134304005 spindle cell hemangioma (disorder) SNOMEDCT_2005_07_31:403967000 A hematopoietic cancer that derives_from the blood-forming stem cells of the bone marrow. DOID:2356 DOID:2761 EFO:0004251 ICD10CM:D47.1 MESH:D009196 SNOMEDCT_US_2016_03_01:128925001 SNOMEDCT_US_2016_03_01:188772004 SNOMEDCT_US_2016_03_01:20921005 SNOMEDCT_US_2016_03_01:414794006 SNOMEDCT_US_2016_03_01:425333006 UMLS_CUI:C0027022 bone Marrow tumor bone marrow neoplasm malignant bone Marrow tumor malignant neoplasm of bone marrow disease_ontology DOID:4960 bone marrow cancer A hematopoietic cancer that derives_from the blood-forming stem cells of the bone marrow. url:http://nci.nih.gov/dictionary/?CdrID=430857 bone Marrow tumor NCI2004_11_17:C35370 bone marrow neoplasm CSP2005:2004-0492 malignant bone Marrow tumor NCI2004_11_17:C35501 MESH:D001855 NCI:C34433 SNOMEDCT_US_2016_03_01:127035006 UMLS_CUI:C0005956 bone marrow disorder disease_ontology DOID:4961 bone marrow disease bone marrow disorder CSP2005:0427-3773 An extrapulmonary tuberculosis that is located_in pericardium resulting in acute pericarditis, chronic pericardial effusion, cardiac tamponade or pericardial constriction. ICD10CM:A18.84 MESH:D010495 SNOMEDCT_US_2016_03_01:67256000 UMLS_CUI:C0031049 tuberculous pericarditis disease_ontology DOID:4962 pericardial tuberculosis An extrapulmonary tuberculosis that is located_in pericardium resulting in acute pericarditis, chronic pericardial effusion, cardiac tamponade or pericardial constriction. url:http://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf An anxiety disorder that involves discress but neither delusions nor hallucinations. DOID:6342 DOID:9687 ICD10CM:F34.1 ICD10CM:F48.9 MESH:D000275 MESH:D003866 MESH:D009497 NCI:C34533 NCI:C34848 NCI:C35369 SNOMEDCT_US_2016_03_01:111475002 SNOMEDCT_US_2016_03_01:154881002 SNOMEDCT_US_2016_03_01:154889000 SNOMEDCT_US_2016_03_01:191740008 SNOMEDCT_US_2016_03_01:191748001 SNOMEDCT_US_2016_03_01:192372006 SNOMEDCT_US_2016_03_01:192442004 SNOMEDCT_US_2016_03_01:268632008 SNOMEDCT_US_2016_03_01:268753005 SNOMEDCT_US_2016_03_01:78667006 SNOMEDCT_US_2016_03_01:87414006 UMLS_CUI:C0011579 UMLS_CUI:C0027932 UMLS_CUI:C0282126 Neurotic depression reactive type Neurotic depressive state Psychoneurosis NOS depressive neurosis neurosis neurotic depression reactive depression disease_ontology DOID:4964 neurotic disorder An anxiety disorder that involves discress but neither delusions nor hallucinations. url:http://en.wikipedia.org/wiki/Neurosis Neurotic depression reactive type SNOMEDCT_2005_07_31:191740008 Neurotic depressive state MTHICD9_2006:300.4 Psychoneurosis NOS MTHICD9_2006:300.9 depressive neurosis MTH:NOCODE neurosis CSP2005:2483-6707 Adrenal Cortical hyperplasia Adrenocortical hyperplasia (disorder) disease_ontology DOID:4966 adrenocortical hyperplasia true Adrenal Cortical hyperplasia NCI2004_11_17:C3506 Adrenocortical hyperplasia (disorder) SNOMEDCT_2005_07_31:237777008 Adrenal gland hyperplasia Adrenal hypertrophy or hyperplasia (disorder) disease_ontology DOID:4967 adrenal hyperplasia true Adrenal gland hyperplasia NCI2004_11_17:C35408 Adrenal hypertrophy or hyperplasia (disorder) SNOMEDCT_2005_07_31:237775000 ICD10CM:E24.1 MESH:D009347 NCI:C84917 SNOMEDCT_US_2016_03_01:190503006 SNOMEDCT_US_2016_03_01:43019009 UMLS_CUI:C0027577 Nelson's syndrome disease_ontology DOID:4968 Nelson syndrome Nelson's syndrome SNOMEDCT_2005_07_31:190503006 A nervous system disease that results_from damage located_in left parietal lobe, has_symptom agraphia, has_symptom acalculia, has_symptom finger agnosia. MESH:D005862 MedDRA:10048608 ORDO:221117 SNOMEDCT_US_2016_03_01:36785009 UMLS_CUI:C0017494 Aphasia-angular gyrus syndrome disease_ontology DOID:4969 Gerstmann syndrome A nervous system disease that results_from damage located_in left parietal lobe, has_symptom agraphia, has_symptom acalculia, has_symptom finger agnosia. url:http://en.wikipedia.org/wiki/Gerstmann_syndrome url:http://www.ninds.nih.gov/disorders/gerstmanns/gerstmanns.htm Aphasia-angular gyrus syndrome SNOMEDCT_2005_07_31:36785009 An agnosia that results in the loss of the ability to consciously recognize familiar faces. ICD10CM:R48.3 MESH:D020238 NCI:C85031 SNOMEDCT_US_2016_03_01:18358003 UMLS_CUI:C0234512 disease_ontology DOID:4970 prosopagnosia An agnosia that results in the loss of the ability to consciously recognize familiar faces. url:http://en.wikipedia.org/wiki/Agnosia A myeloid neoplasm that is located_in the bone marrow which results_in bone marrow being replaced by fibrous (scar) tissue. DOID:5737 ICD10CM:D47.4 ICD10CM:D75.81 ICD9CM:238.76 ICD9CM:289.83 MESH:D055728 NCI:C2862 NCI:C3248 OMIM:254450 SNOMEDCT_US_2016_03_01:128843003 SNOMEDCT_US_2016_03_01:154841009 SNOMEDCT_US_2016_03_01:188773009 SNOMEDCT_US_2016_03_01:22265001 SNOMEDCT_US_2016_03_01:267572005 SNOMEDCT_US_2016_03_01:307651005 SNOMEDCT_US_2016_03_01:52967002 SNOMEDCT_US_2016_03_01:78956007 UMLS_CUI:C0001815 UMLS_CUI:C0026987 Agnogenic myeloid metaplasia Aleukemic myelosis Megakaryocytic myelosclerosis bone Marrow Fibrosis myelosclerosis primary myelofibrosis disease_ontology DOID:4971 OMIM mapping confirmed by DO. [SN]. myelofibrosis A myeloid neoplasm that is located_in the bone marrow which results_in bone marrow being replaced by fibrous (scar) tissue. url:http://en.wikipedia.org/wiki/Myelofibrosis Agnogenic myeloid metaplasia SNOMEDCT_2005_07_31:52967002 Aleukemic myelosis MTHICD9_2006:205.8 Megakaryocytic myelosclerosis SNOMEDCT_2005_07_31:189508006 bone Marrow Fibrosis NCI2004_11_17:C36212 myelosclerosis CSP2005:2004-0936 A myeloid neoplasm that results_in the overproduction of white blood cells. DOID:6470 MESH:D054437 NCI:C27262 SNOMEDCT_US_2016_03_01:397336008 SNOMEDCT_US_2016_03_01:445738007 UMLS_CUI:C1301355 Myeloproliferative/Myelodysplastic syndromes myelodysplastic myeloproliferative cancer disease_ontology myelodysplastic myeloproliferative disease DOID:4972 myelodysplastic/myeloproliferative neoplasm A myeloid neoplasm that results_in the overproduction of white blood cells. url:http://www.bloodjournal.org/content/114/5/937.long url:http://www.cancer.gov/cancertopics/pdq/treatment/mds-mpd/Patient/print Myeloproliferative/Myelodysplastic syndromes NCI2004_11_17:C27262 A commensal bacterial infectious disease that results_in infection, has_material_basis_in Actinobacillus ureae, which is a commensal of the human respiratory tract. The pathogen causes meningitis, endocarditis, bacteremia, atrophic rhinitis, bronchitis, pneumonia, conjunctivitis, peritonitis, and otitis media. MESH:D000187 SNOMEDCT_US_2016_03_01:16140007 UMLS_CUI:C0001247 Actinobacillosis, NOS disease_ontology DOID:4974 actinobacillosis A commensal bacterial infectious disease that results_in infection, has_material_basis_in Actinobacillus ureae, which is a commensal of the human respiratory tract. The pathogen causes meningitis, endocarditis, bacteremia, atrophic rhinitis, bronchitis, pneumonia, conjunctivitis, peritonitis, and otitis media. url:http://www.merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/50100.htm url:http://www.sciencedirect.com/science/article/pii/073646799500066J url:www.jrheum.com/subscribers/04/08/tables/PDF/1663.pdf Actinobacillosis, NOS SNOMEDCT_2005_07_31:16140007 Actinobacillus infection (disorder) disease_ontology DOID:4975 Actinobacillus infectious disease true Actinobacillus infection (disorder) SNOMEDCT_2005_07_31:16140007 MESH:D004604 NCI:C34569 SNOMEDCT_US_2016_03_01:155485008 SNOMEDCT_US_2016_03_01:240820001 SNOMEDCT_US_2016_03_01:266334008 UMLS_CUI:C0013882 Elephantiasis NOS disease_ontology DOID:4976 elephantiasis Elephantiasis NOS MTHICD9_2006:457.1 MESH:D008209 NCI:C3207 SNOMEDCT_US_2016_03_01:155485008 SNOMEDCT_US_2016_03_01:195486001 SNOMEDCT_US_2016_03_01:234097001 SNOMEDCT_US_2016_03_01:266334008 SNOMEDCT_US_2016_03_01:30213001 UMLS_CUI:C0024236 Lymphatic edema (morphologic abnormality) Lymphoedema NOS disease_ontology DOID:4977 lymphedema Lymphatic edema (morphologic abnormality) SNOMEDCT_2005_07_31:30213001 Lymphoedema NOS SNOMEDCT_2005_07_31:266334008 recurrent Askin's tumor recurrent Ewing's sarcoma/peripheral primitive neuroectodermal tumor disease_ontology DOID:4978 Ewing's family recurrent tumor true recurrent Askin's tumor NCI2004_11_17:C27900 recurrent Ewing's sarcoma/peripheral primitive neuroectodermal tumor NCI2004_11_17:C27898 disease_ontology DOID:4979 recurrent primitive neuroectodermal tumor true Ewing's sarcoma, metastatic disease_ontology DOID:4982 metastatic Ewing's sarcoma true Ewing's sarcoma, metastatic NCI2004_11_17:C7807 disease_ontology DOID:4983 metastatic Ewing's sarcoma/peripheral primitive neuroectodermal tumor true NCI:C7135 UMLS_CUI:C0279980 extraosseous Ewing's tumor disease_ontology DOID:4985 extraosseous Ewings sarcoma-primitive neuroepithelial tumor extraosseous Ewing's tumor NCI2004_11_17:C7135 A poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms. ICD10CM:A80.4 ICD9CM:045.2 ICD9CM:045.20 SNOMEDCT_US_2016_03_01:14535005 UMLS_CUI:C0152998 acute nonparalytic poliomyelitis non-paralytic aseptic meningitis disease_ontology DOID:4986 nonparalytic poliomyelitis A poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms. url:http://www.brown.edu/Courses/Bio_160/Projects2000/Polio/Neuropathology.html url:http://www.mayoclinic.com/health/polio/DS00572/DSECTION=symptoms relapsed Ewing's sarcoma disease_ontology DOID:4987 recurrent Ewing's sarcoma true relapsed Ewing's sarcoma NCI2004_11_17:C7808 MESH:D019512 SNOMEDCT_US_2016_03_01:445507008 UMLS_CUI:C0376670 disease_ontology DOID:4988 alcoholic pancreatitis EFO:0000278 ICD10CM:K85.9 MESH:D010195 NCI:C3306 SNOMEDCT_US_2016_03_01:197461009 SNOMEDCT_US_2016_03_01:393591004 SNOMEDCT_US_2016_03_01:75694006 UMLS_CUI:C0030305 disease_ontology DOID:4989 pancreatitis A movement disorder that causes involuntary tremors, especially in the hands. It occurs alone without other neurological signs and symptoms. ICD10CM:G25.0 MESH:D020329 OMIM:190300 OMIM:602134 OMIM:611456 OMIM:614782 ORDO:862 SNOMEDCT_US_2016_03_01:192839001 SNOMEDCT_US_2016_03_01:609558009 SNOMEDCT_US_2016_03_01:632009 UMLS_CUI:C0270736 benign essential tremor essential hereditary tremor shaky hand syndrome disease_ontology DOID:4990 Xref MGI. essential tremor A movement disorder that causes involuntary tremors, especially in the hands. It occurs alone without other neurological signs and symptoms. url:http://en.wikipedia.org/wiki/Essential_tremor url:http://ghr.nlm.nih.gov/condition/essential-tremor benign essential tremor MTHICD9_2006:333.1 DOID:4849 NCI:C6769 NCI:C7533 UMLS_CUI:C1335114 UMLS_CUI:C1336971 Astrocytic tumor of optic nerve optic tract astrocytoma disease_ontology DOID:4991 optic nerve astrocytoma Astrocytic tumor of optic nerve NCI2004_11_17:C6769 MESH:D020339 NCI:C4537 SNOMEDCT_US_2016_03_01:254976006 SNOMEDCT_US_2016_03_01:404662003 UMLS_CUI:C0346326 glioma of the optic nerve disease_ontology DOID:4992 optic nerve glioma glioma of the optic nerve NCI2004_11_17:C4537 NCI:C6895 SNOMEDCT_US_2016_03_01:388987001 SNOMEDCT_US_2016_03_01:40293003 UMLS_CUI:C1300347 Atypical polypoid adenomyoma Atypical polypoid adenomyoma (morphologic abnormality) disease_ontology DOID:4993 atypical polypoid adenomyoma Atypical polypoid adenomyoma NCI2004_11_17:C6895 Atypical polypoid adenomyoma (morphologic abnormality) SNOMEDCT_2005_07_31:388987001 NCI:C6338 UMLS_CUI:C1336903 adenomyoma of Corpus Uteri disease_ontology DOID:4994 adenomyoma of uterine corpus adenomyoma of Corpus Uteri NCI2004_11_17:C6338 NCI:C40231 UMLS_CUI:C1516404 disease_ontology DOID:4995 cervical adenomyoma An osteosclerosis that has_material_basis_in mutations in the TGFB1 gene which results_in increased bone density located_in long bone. ICD10CM:Q78.3 MESH:D003966 NCI:C84610 OMIM:131300 OMIM:606631 SNOMEDCT_US_2016_03_01:205505000 SNOMEDCT_US_2016_03_01:240174009 SNOMEDCT_US_2016_03_01:318761000119105 SNOMEDCT_US_2016_03_01:34643004 UMLS_CUI:C0011989 Diaphyseal dysplasia Engelman's disease progressive diaphyseal dysplasia disease_ontology DOID:4997 Xref MGI. OMIM mapping confirmed by DO. [SN]. Camurati-Engelmann disease An osteosclerosis that has_material_basis_in mutations in the TGFB1 gene which results_in increased bone density located_in long bone. url:http://en.wikipedia.org/wiki/Camurati-Engelmann_disease url:http://ghr.nlm.nih.gov/condition/camurati-engelmann-disease url:http://www.ncbi.nlm.nih.gov/books/NBK1156/ url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1328 url:http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Camurati-Engelmann%20Disease Diaphyseal dysplasia SNOMEDCT_2005_07_31:205505000 Engelman's disease SNOMEDCT_2005_07_31:240174009 An autosomal dominant disease that has_material_basis_in mutation of the EXT1 and TRPS1 gene which results_in multiple exostosis along with short stature and cone-shaped ends located_in epiphysis. The disease has_symptom sparse scalp hair, has_symptom thin upper lip, has_symptom rounded nose. MESH:D015826 NCI:C75118 OMIM:150230 SNOMEDCT_US_2016_03_01:239017000 SNOMEDCT_US_2016_03_01:41069008 UMLS_CUI:C0023003 Langer-Giedion syndrome Trichorhinophalangeal dysplasia type II disease_ontology DOID:4998 OMIM mapping confirmed by DO. [SN]. trichorhinophalangeal syndrome type II An autosomal dominant disease that has_material_basis_in mutation of the EXT1 and TRPS1 gene which results_in multiple exostosis along with short stature and cone-shaped ends located_in epiphysis. The disease has_symptom sparse scalp hair, has_symptom thin upper lip, has_symptom rounded nose. url:http://en.wikipedia.org/wiki/Langer-Giedion_syndrome url:http://ghr.nlm.nih.gov/condition/langer-giedion-syndrome url:http://www.healthline.com/galecontent/langer-giedion-syndrome url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=502 url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1074/viewAbstract Trichorhinophalangeal dysplasia type II SNOMEDCT_2005_07_31:239017000 Syphilitic alopecia (disorder) disease_ontology DOID:4999 syphilitic alopecia true Syphilitic alopecia (disorder) SNOMEDCT_2005_07_31:59307008 An endocrine system disease that is located_in the thyroid. ICD10CM:E00-E07 ICD10CM:E07.9 ICD9CM:240-246.99 ICD9CM:246.9 MESH:D013959 NCI:C26893 SNOMEDCT_US_2016_03_01:14304000 SNOMEDCT_US_2016_03_01:154649009 SNOMEDCT_US_2016_03_01:190232008 SNOMEDCT_US_2016_03_01:190311002 SNOMEDCT_US_2016_03_01:191036006 UMLS_CUI:C0040128 disease_ontology DOID:50 thyroid gland disease An endocrine system disease that is located_in the thyroid. url:http://en.wikipedia.org/wiki/Thyroid Syphilitic skin disorder disease_ontology DOID:5000 cutaneous syphilis true Syphilitic skin disorder SNOMEDCT_2005_07_31:371237000 A viral infectious disease that results_in breakdown of red blood cells in horses, has_material_basis_in Equine infectious anemia virus, which is transmitted_by horse fly bite, transmitted_by deer fly bite, transmitted_by contact with saliva, milk, and body secretions, and transmitted_by contaminated needles and surgical equipment. The infection has_symptom anemia, has_symptom weakness, has_symptom swelling of the lower abdomen and legs, has_symptom weak pulse, and has_symptom irregular heartbeat. Fever, swamp disease_ontology DOID:5002 equine infectious anemia true A viral infectious disease that results_in breakdown of red blood cells in horses, has_material_basis_in Equine infectious anemia virus, which is transmitted_by horse fly bite, transmitted_by deer fly bite, transmitted_by contact with saliva, milk, and body secretions, and transmitted_by contaminated needles and surgical equipment. The infection has_symptom anemia, has_symptom weakness, has_symptom swelling of the lower abdomen and legs, has_symptom weak pulse, and has_symptom irregular heartbeat. url:http://en.wikipedia.org/wiki/Equine_infectious_anemia Fever, swamp MTHICD9_2006:100.89 A hypogonadism that is characterized by the lack of mature male germ cells and testicular hormones. MESH:D005058 SNOMEDCT_US_2016_03_01:190559001 SNOMEDCT_US_2016_03_01:267403002 UMLS_CUI:C0238117 disease_ontology DOID:5003 eunuchism A hypogonadism that is characterized by the lack of mature male germ cells and testicular hormones. url:http://www.nlm.nih.gov/cgi/mesh/2011/MB_cgi?exact&field=uid&term=D005058 adult primary cancer of the Liver disease_ontology DOID:5006 adult primary liver cancer true adult primary cancer of the Liver NCI2004_11_17:C7711 Resectable Hepatoma disease_ontology DOID:5007 resectable hepatocellular carcinoma true Resectable Hepatoma NCI2004_11_17:C7691 NCI:C7004 UMLS_CUI:C1333957 hemangioma of CNS disease_ontology DOID:501 central nervous system hemangioma hemangioma of CNS NCI2004_11_17:C7004 A hepatocellular carcinoma characterized microscopically by laminated fibrous layers interspersed between the tumour cells. The polygonal, deeply eosinophilic tumor cells arise in non-cirrhotic livers. MESH:C537258 NCI:C4131 SNOMEDCT_US_2016_03_01:15619004 SNOMEDCT_US_2016_03_01:253018005 UMLS_CUI:C0334287 Fibrolamellar hepatocellular carcinoma Hepatocellular carcinoma, fibrolamellar Oncocytic Hepatocellular tumor disease_ontology DOID:5015 fibrolamellar carcinoma A hepatocellular carcinoma characterized microscopically by laminated fibrous layers interspersed between the tumour cells. The polygonal, deeply eosinophilic tumor cells arise in non-cirrhotic livers. url:http://www.nejm.org/doi/full/10.1056/NEJMra1001683 url:https://en.wikipedia.org/wiki/Fibrolamellar_hepatocellular_carcinoma url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4131&ns=NCI_Thesaurus url:https://rarediseases.info.nih.gov/diseases/9396/fibrolamellar-carcinoma Fibrolamellar hepatocellular carcinoma SNOMEDCT_2005_07_31:253018005 Hepatocellular carcinoma, fibrolamellar SNOMEDCT_2005_07_31:15619004 Oncocytic Hepatocellular tumor NCI2004_11_17:C4131 NCI:C5754 UMLS_CUI:C1333067 Clear cell carcinoma of the Liver cells disease_ontology DOID:5016 hepatocellular clear cell carcinoma Clear cell carcinoma of the Liver cells NCI2004_11_17:C5754 disease_ontology DOID:5017 hepatitis virus related hepatocellular carcinoma true disease_ontology DOID:5019 non-resectable hepatocellular carcinoma true Non-meningothelial mesenchymal tumor disease_ontology DOID:502 central nervous system mesenchymal non-meningothelial tumor Non-meningothelial mesenchymal tumor NCI2004_11_17:C6972 NCI:C27922 UMLS_CUI:C1332222 disease_ontology DOID:5022 aflatoxins-related hepatocellular carcinoma NCI:C27388 SNOMEDCT_US_2016_03_01:128646008 UMLS_CUI:C1266018 Sclerosing Hepatocellular carcinoma Sclerosing hepatic carcinoma disease_ontology DOID:5026 sclerosing hepatic carcinoma Sclerosing Hepatocellular carcinoma NCI2004_11_17:C27388 Sclerosing hepatic carcinoma SNOMEDCT_2005_07_31:128646008 relapsed Hepatoma disease_ontology DOID:5027 recurrent hepatocellular carcinoma true relapsed Hepatoma NCI2004_11_17:C9264 relapsed cancer of the Liver disease_ontology DOID:5028 recurrent cancer of Liver true relapsed cancer of the Liver NCI2004_11_17:C7110 A Togaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Alphavirus, which is transmitted_by mosquito bite. disease_ontology DOID:5029 Alphavirus infectious disease true A Togaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Alphavirus, which is transmitted_by mosquito bite. url:http://en.wikipedia.org/wiki/Alphavirus NCI:C6967 SNOMEDCT_US_2016_03_01:31671006 SNOMEDCT_US_2016_03_01:397379005 UMLS_CUI:C1367859 Pineal Parenchymal tumor of Intermediate differentiation Pineal parenchymal tumor of intermediate differentiation (morphologic abnormality) Pineal parenchymal tumour of intermediate differentiation disease_ontology DOID:5030 pineal parenchymal tumor of intermediate differentiation Pineal Parenchymal tumor of Intermediate differentiation NCI2004_11_17:C6967 Pineal parenchymal tumor of intermediate differentiation (morphologic abnormality) SNOMEDCT_2005_07_31:397379005 Pineal parenchymal tumour of intermediate differentiation SNOMEDCT_2005_07_31:31671006 NCI:C8273 UMLS_CUI:C0280794 adult Pineal Parenchymal neoplasm disease_ontology DOID:5031 adult pineal parenchymal tumor adult Pineal Parenchymal neoplasm NCI2004_11_17:C8273 An endocrine gland located_in the pineal gland located in the brain. DOID:1662 DOID:4859 ICD10CM:C75.3 ICD9CM:194.4 MESH:D010871 NCI:C3328 NCI:C3573 NCI:C6965 SNOMEDCT_US_2016_03_01:127026004 SNOMEDCT_US_2016_03_01:359619007 SNOMEDCT_US_2016_03_01:363483004 SNOMEDCT_US_2016_03_01:47598005 SNOMEDCT_US_2016_03_01:93962006 UMLS_CUI:C0031941 UMLS_CUI:C0153655 UMLS_CUI:C1412004 Pinealoma Pineocytic tumor malignant Pineal Region tumor malignant tumor of pineal gland neoplasm of pineal gland neoplasm of the Pineal Region pineal body neoplasm tumor of the pineal region disease_ontology DOID:5032 pineal gland cancer An endocrine gland located_in the pineal gland located in the brain. url:http://en.wikipedia.org/wiki/Pineal_gland Pinealoma SNOMEDCT_2005_07_31:359619007 Pineocytic tumor NCI2004_11_17:C6965 malignant Pineal Region tumor NCI2004_11_17:C3573 malignant tumor of pineal gland SNOMEDCT_2005_07_31:363483004 neoplasm of pineal gland SNOMEDCT_2005_07_31:127026004 neoplasm of the Pineal Region NCI2004_11_17:C3328 pineal body neoplasm CSP2005:2006-6484 MESH:D009379 NCI:C3252 UMLS_CUI:C0027043 benign granular cell tumor disease_ontology DOID:5039 myoblastoma benign granular cell tumor NCI2004_11_17:C3252 NCI:C5700 UMLS_CUI:C1333448 granular cell tumor of esophagus disease_ontology DOID:5040 malignant granular cell esophageal tumor granular cell tumor of esophagus NCI2004_11_17:C5700 A gastrointestinal system cancer that is located_in the esophagus. DOID:10291 DOID:10292 DOID:10448 DOID:1102 DOID:1104 ICD10CM:C15.3 ICD10CM:C15.4 ICD10CM:C15.5 ICD9CM:150.2 ICD9CM:150.3 ICD9CM:150.4 ICD9CM:150.5 ICD9CM:150.8 MESH:D004938 NCI:C3028 NCI:C3533 NCI:C3534 NCI:C3535 NCI:C4764 OMIM:133239 SNOMEDCT_US_2016_03_01:126817006 SNOMEDCT_US_2016_03_01:154443000 SNOMEDCT_US_2016_03_01:154444006 SNOMEDCT_US_2016_03_01:187724003 SNOMEDCT_US_2016_03_01:187725002 SNOMEDCT_US_2016_03_01:187726001 SNOMEDCT_US_2016_03_01:187727005 SNOMEDCT_US_2016_03_01:187729008 SNOMEDCT_US_2016_03_01:269523008 SNOMEDCT_US_2016_03_01:269524002 SNOMEDCT_US_2016_03_01:93656003 SNOMEDCT_US_2016_03_01:93877002 SNOMEDCT_US_2016_03_01:93895004 SNOMEDCT_US_2016_03_01:94119000 UMLS_CUI:C0014859 UMLS_CUI:C0153413 UMLS_CUI:C0153414 UMLS_CUI:C0153415 UMLS_CUI:C0153416 UMLS_CUI:C0496775 Ca lower third oesophagus Ca middle third oesophagus esophagus cancer malignant neoplasm of distal third of esophagus malignant neoplasm of lower third of oesophagus malignant neoplasm of middle third of oesophagus malignant neoplasm of proximal third of esophagus malignant neoplasm of upper third esophagus malignant tumor of Distal Third of esophagus malignant tumor of Proximal Third of esophagus malignant tumor of abdominal esophagus malignant tumor of the middle Third of the esophagus disease_ontology DOID:5041 esophageal cancer A gastrointestinal system cancer that is located_in the esophagus. url:http://cancergenome.nih.gov/cancersselected/stomach-esophagealcancer url:http://en.wikipedia.org/wiki/Esophagus Ca lower third oesophagus SNOMEDCT_2005_07_31:154444006 Ca middle third oesophagus SNOMEDCT_2005_07_31:154443000 malignant neoplasm of distal third of esophagus MTHICD9_2006:150.5 malignant neoplasm of lower third of oesophagus SNOMEDCT_2005_07_31:93877002 malignant neoplasm of middle third of oesophagus SNOMEDCT_2005_07_31:93895004 malignant neoplasm of proximal third of esophagus MTHICD9_2006:150.3 malignant neoplasm of upper third esophagus SNOMEDCT_2005_07_31:94119000 malignant tumor of Distal Third of esophagus NCI2004_11_17:C3535 malignant tumor of Proximal Third of esophagus NCI2004_11_17:C3533 malignant tumor of abdominal esophagus NCI2004_11_17:C4764 malignant tumor of the middle Third of the esophagus NCI2004_11_17:C3534 NCI:C4336 SNOMEDCT_US_2016_03_01:13238004 SNOMEDCT_US_2016_03_01:404041003 UMLS_CUI:C0334618 granular cell tumor, malignant (morphologic abnormality) malignant granular cell neoplasm malignant granular cell tumor (disorder) disease_ontology DOID:5042 malignant granular cell myoblastoma granular cell tumor, malignant (morphologic abnormality) SNOMEDCT_2005_07_31:13238004 malignant granular cell neoplasm NCI2004_11_17:C4336 malignant granular cell tumor (disorder) SNOMEDCT_2005_07_31:404041003 NCI:C40328 UMLS_CUI:C1520083 disease_ontology DOID:5043 vulvar granular cell tumor NCI:C5360 UMLS_CUI:C1332845 granular cell tumor of Heart disease_ontology DOID:5044 cardiac granular cell neoplasm granular cell tumor of Heart NCI2004_11_17:C5360 NCI:C6601 UMLS_CUI:C1334656 granular cell tumor of mediastinum disease_ontology DOID:5046 mediastinal granular cell myoblastoma granular cell tumor of mediastinum NCI2004_11_17:C6601 NCI:C7017 SNOMEDCT_US_2016_03_01:699331002 UMLS_CUI:C1333873 disease_ontology DOID:5047 neurohypophysis granular cell tumor NCI:C7157 UMLS_CUI:C1334957 Posterior Pituitary tumor disease_ontology DOID:5048 posterior pituitary gland neoplasm Posterior Pituitary tumor NCI2004_11_17:C7157 disease_ontology DOID:505 hobnail hemangioma MESH:D002286 UMLS_CUI:C0007125 Ehrlich's tumor disease_ontology DOID:5050 Ehrlich tumor carcinoma Ehrlich's tumor CSP2005:2000-2080 A primary bacterial infectious disease that results_in infection, has_material_basis_in Burkholderia pseudomallei, which is transmitted_by contact with the contaminated water or soil. The infection has_symptom fever, has_symptom respiratory distress, has_symptom chest pain, and has_symptom stomach pain. DOID:0050062 DOID:0050064 ICD10CM:A24.9 ICD9CM:025 MESH:D008554 SNOMEDCT_US_2016_03_01:187306003 SNOMEDCT_US_2016_03_01:34458001 SNOMEDCT_US_2016_03_01:428111003 UMLS_CUI:C0025229 Nightcliff gardener's disease Pseudoglanders Whitmore's disease acute and fulminating melioidosis subacute and chronic melioidosis disease_ontology DOID:5052 melioidosis A primary bacterial infectious disease that results_in infection, has_material_basis_in Burkholderia pseudomallei, which is transmitted_by contact with the contaminated water or soil. The infection has_symptom fever, has_symptom respiratory distress, has_symptom chest pain, and has_symptom stomach pain. url:http://www.cdc.gov/melioidosis/symptoms/index.html Pseudoglanders MTHICD9_2006:025 disease_ontology DOID:5053 primary Burkholderia infectious disease true disease_ontology DOID:5055 neuronal and mixed neuronal-glial tumor of cerebellum true NCI:C5968 UMLS_CUI:C1332197 tumor of adult Cerebellum disease_ontology DOID:5056 adult cerebellar neoplasm tumor of adult Cerebellum NCI2004_11_17:C5968 NCI:C5270 UMLS_CUI:C1332902 Papillary meningioma of Cerebellum disease_ontology DOID:5057 papillary meningioma of the cerebellum Papillary meningioma of Cerebellum NCI2004_11_17:C5270 NCI:C6909 SNOMEDCT_US_2016_03_01:399469000 UMLS_CUI:C0259786 Papillary meningioma Papillary meningioma (morphologic abnormality) Rhabdoid meningioma meningioma, rhabdoid (morphologic abnormality) disease_ontology DOID:5058 rhabdoid meningioma Papillary meningioma NCI2004_11_17:C3904 Papillary meningioma SNOMEDCT_2005_07_31:57606003 Papillary meningioma (morphologic abnormality) SNOMEDCT_2005_07_31:128840000 Rhabdoid meningioma NCI2004_11_17:C6909 meningioma, rhabdoid (morphologic abnormality) SNOMEDCT_2005_07_31:399469000 NCI:C5970 UMLS_CUI:C1332959 pediatric tumor of Cerebellum disease_ontology DOID:5059 childhood cerebellar neoplasm pediatric tumor of Cerebellum NCI2004_11_17:C5970 A substance abuse that involves the recurring use of phencyclidine (PCP) drugs despite negative consequences. MESH:D010623 SNOMEDCT_US_2016_03_01:7071007 UMLS_CUI:C0031391 PCP abuse Phencyclidine abuse disease_ontology DOID:5062 phencyclidine abuse A substance abuse that involves the recurring use of phencyclidine (PCP) drugs despite negative consequences. url:http://en.wikipedia.org/wiki/Phencyclidine PCP abuse SNOMEDCT_2005_07_31:7071007 Phencyclidine abuse MTHICD9_2006:305.9 MESH:D002281 NCI:C2922 SNOMEDCT_US_2016_03_01:254702000 SNOMEDCT_US_2016_03_01:37304002 SNOMEDCT_US_2016_03_01:6641007 UMLS_CUI:C0007118 Basisquamous cell carcinoma Metatypical carcinoma (morphologic abnormality) basosquamous cell carcinoma disease_ontology DOID:5063 basosquamous carcinoma Basisquamous cell carcinoma SNOMEDCT_2005_07_31:37304002 Metatypical carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:6641007 basosquamous cell carcinoma CSP2005:2000-2932 disease_ontology DOID:5069 uterine corpus soft tissue neoplasm true A disease of mental health that is an abnormal and excessive emotional and behavioral reaction to a life stress that develops within 3 months of a life stress, and which is stronger or greater than what would be expected for the type of event that occurred. ICD9CM:309 ICD9CM:309.9 SNOMEDCT_US_2016_03_01:17226007 SNOMEDCT_US_2016_03_01:192068001 SNOMEDCT_US_2016_03_01:268781004 SNOMEDCT_US_2016_03_01:367487002 SNOMEDCT_US_2016_03_01:63608001 UMLS_CUI:C0040701 adjustment disease adjustment reaction disease_ontology DOID:507 adjustment disorder A disease of mental health that is an abnormal and excessive emotional and behavioral reaction to a life stress that develops within 3 months of a life stress, and which is stronger or greater than what would be expected for the type of event that occurred. url:http://en.wikipedia.org/wiki/Adjustment_disorder url:http://www.mayoclinic.org/diseases-conditions/adjustment-disorders/basics/definition/con-20031704 url:http://www.nlm.nih.gov/medlineplus/ency/article/000932.htm neoplasm of body of uterus (disorder) tumor of Corpus Uteri disease_ontology DOID:5070 neoplasm of body of uterus true neoplasm of body of uterus (disorder) SNOMEDCT_2005_07_31:126909004 tumor of Corpus Uteri NCI2004_11_17:C6300 soft tissue tumor of the CNS disease_ontology DOID:5071 central nervous system soft tissue neoplasm true soft tissue tumor of the CNS NCI2004_11_17:C5449 Gliomatosis of the meninges disease_ontology DOID:5072 meninges gliomatosis true Gliomatosis of the meninges NCI2004_11_17:C5446 malignant Meningeal tumor malignant meningeal neoplasm (morphologic abnormality) malignant neoplasm of meninges NOS malignant neoplasm of meninges, unspecified malignant neoplasm of meninges, unspecified (disorder) malignant tumor of meninges (disorder) disease_ontology DOID:5073 malignant neoplasm of meninges true malignant Meningeal tumor NCI2004_11_17:C4628 malignant meningeal neoplasm (morphologic abnormality) SNOMEDCT_2005_07_31:414647009 malignant neoplasm of meninges NOS MTHICD9_2006:192.1 malignant neoplasm of meninges, unspecified SNOMEDCT_2005_07_31:188332006 malignant neoplasm of meninges, unspecified (disorder) SNOMEDCT_2005_07_31:190136001 malignant tumor of meninges (disorder) SNOMEDCT_2005_07_31:363497007 A malignant glioma that is derived from ependymal cells, a type of glial cell, located_in ventricle lining within the central part of the brain. DOID:0060107 NCI:C6770 UMLS_CUI:C1333407 Ependymal neoplasm ependymal tumors disease_ontology DOID:5074 malignant ependymoma A malignant glioma that is derived from ependymal cells, a type of glial cell, located_in ventricle lining within the central part of the brain. url:http://www.cancer.org/Cancer/BrainCNSTumorsinAdults/DetailedGuide/brain-and-spinal-cord-tumors-in-adults-what-are-brain-spinal-tumors Ependymal neoplasm NCI2004_11_17:C6770 MESH:D004806 NCI:C3697 SNOMEDCT_US_2016_03_01:1623000 UMLS_CUI:C0205769 Myxopapillary Ependymoma Myxopapillary ependymoma (morphologic abnormality) disease_ontology DOID:5075 myxopapillary ependymoma Myxopapillary Ependymoma NCI2004_11_17:C3697 Myxopapillary ependymoma (morphologic abnormality) SNOMEDCT_2005_07_31:1623000 MESH:D005910 NCI:C3903 SNOMEDCT_US_2016_03_01:22217002 SNOMEDCT_US_2016_03_01:443937008 UMLS_CUI:C0259783 mixed Neuroglial tumor mixed glioma (morphologic abnormality) mixed gliomas disease_ontology DOID:5076 mixed glioma mixed Neuroglial tumor NCI2004_11_17:C3903 mixed glioma (morphologic abnormality) SNOMEDCT_2005_07_31:22217002 mixed gliomas MTH:NOCODE MESH:D001254 NCI:C3696 SNOMEDCT_US_2016_03_01:1586004 SNOMEDCT_US_2016_03_01:449799008 UMLS_CUI:C0205768 SEGA Subependymal giant cell astrocytoma (morphologic abnormality) disease_ontology DOID:5077 subependymal giant cell astrocytoma SEGA NCI2004_11_17:C3696 Subependymal giant cell astrocytoma (morphologic abnormality) SNOMEDCT_2005_07_31:1586004 A cell type benign neoplasm that has_material_basis_in glial-type cells. DOID:5606 DOID:5607 MESH:D018303 NCI:C27362 NCI:C27363 NCI:C3788 SNOMEDCT_US_2016_03_01:87191000119100 SNOMEDCT_US_2016_03_01:89880005 UMLS_CUI:C0206716 UMLS_CUI:C1332202 UMLS_CUI:C1332969 CNS ganglioglioma adult ganglioglioma childhood ganglioglioma disease_ontology DOID:5078 ganglioglioma A cell type benign neoplasm that has_material_basis_in glial-type cells. url:http://en.wikipedia.org/wiki/Ganglioglioma url:http://www.stjude.org/stjude/v/index.jsp?vgnextoid=7e0d061585f70110VgnVCM1000001e0215acRCRD EFO:0001422 ICD10CM:K74.60 MESH:D008103 NCI:C2951 SNOMEDCT_US_2016_03_01:155809006 SNOMEDCT_US_2016_03_01:197309008 SNOMEDCT_US_2016_03_01:19943007 SNOMEDCT_US_2016_03_01:235891006 SNOMEDCT_US_2016_03_01:266537000 UMLS_CUI:C0023890 Cirrhosis cirrhosis of liver disease_ontology DOID:5082 liver cirrhosis Cirrhosis SNOMEDCT_2005_07_31:266537000 ICD9CM:244.2 SNOMEDCT_US_2016_03_01:190279008 UMLS_CUI:C0154159 Iodine hypothyroidism (disorder) disease_ontology DOID:5083 iodine hypothyroidism Iodine hypothyroidism (disorder) SNOMEDCT_2005_07_31:190279008 A viral infectious disease that results_in inflammation located_in stomach and located_in intestine in pigs, has_material_basis_in Transmissible gastroenteritis virus, which is transmitted_by ingestion of food contaminated with feces. The infection has_symptom vomiting, has_symptom watery yellow diarrhea, has_symptom weight loss, and has_symptom dehydration. disease_ontology DOID:5085 transmissible gastroenteritis of swine true A viral infectious disease that results_in inflammation located_in stomach and located_in intestine in pigs, has_material_basis_in Transmissible gastroenteritis virus, which is transmitted_by ingestion of food contaminated with feces. The infection has_symptom vomiting, has_symptom watery yellow diarrhea, has_symptom weight loss, and has_symptom dehydration. url:http://www.addl.purdue.edu/newsletters/2008/Fall/TGE.htm A viral infectious disease that results_in inflammation located_in intestine of turkeys, has_material_basis_in Turkey coronavirus, which is transmitted_by ingestion of food contaminated with feces, or transmitted_by fomites contaminated with feces. The infection has_symptom diarrhea, has_symptom anorexia, has_symptom decreased weight, and has_symptom depression. Bluecomb disease (disorder) mud fever disease_ontology DOID:5086 transmissible enteritis of turkeys true A viral infectious disease that results_in inflammation located_in intestine of turkeys, has_material_basis_in Turkey coronavirus, which is transmitted_by ingestion of food contaminated with feces, or transmitted_by fomites contaminated with feces. The infection has_symptom diarrhea, has_symptom anorexia, has_symptom decreased weight, and has_symptom depression. url:http://books.google.com/books?id=oBloqeMWktMC&pg=PA300&lpg Bluecomb disease (disorder) SNOMEDCT_2005_07_31:68246002 A viral infectious disease that results_in infection in cats, located_in peritoneum, has_material_basis_in Feline infectious peritonitis virus, which is transmitted_by contact with the infected cat, and transmitted_by congenital method. The infection has_symptom sneezing, has_symptom watery eyes, has_symptom nasal discharge, and has_symptom accumulation of fluid in the abdomen. disease_ontology DOID:5087 feline infectious peritonitis true A viral infectious disease that results_in infection in cats, located_in peritoneum, has_material_basis_in Feline infectious peritonitis virus, which is transmitted_by contact with the infected cat, and transmitted_by congenital method. The infection has_symptom sneezing, has_symptom watery eyes, has_symptom nasal discharge, and has_symptom accumulation of fluid in the abdomen. url:http://www.vet.cornell.edu/fhc/brochures/fip.html NCI:C37265 UMLS_CUI:C1334602 disease_ontology DOID:5088 mixed epithelial stromal tumour A bone cancer and neoplasm of chest wall and sternal disorder that is located_in the sternum. DOID:6763 NCI:C6730 NCI:C8408 SNOMEDCT_US_2016_03_01:126559003 UMLS_CUI:C1290244 UMLS_CUI:C1382025 Sternal tumor malignant Sternal tumor malignant sternal neoplasm neoplasm of sternum (disorder) disease_ontology neoplasm of sternum DOID:5090 sternum cancer A bone cancer and neoplasm of chest wall and sternal disorder that is located_in the sternum. url:http://www.cancer.gov/dictionary/?CdrID=482347 Sternal tumor NCI2004_11_17:C6730 malignant Sternal tumor NCI2004_11_17:C8408 neoplasm of sternum (disorder) SNOMEDCT_2005_07_31:126559003 An organ system cancer located_in the thoracic cavity that develops in the different types of cells within the lungs, as well as less common cancers of the esophagus, the trachea, or the chest wall. DOID:3937 ICD10CM:C76.1 ICD9CM:195.1 MESH:D013899 NCI:C3406 NCI:C3576 SNOMEDCT_US_2016_03_01:188361007 SNOMEDCT_US_2016_03_01:188365003 SNOMEDCT_US_2016_03_01:255058005 UMLS_CUI:C0039981 UMLS_CUI:C0153661 Thoracic tumor thorax cancer thorax neoplasm tumor of thorax disease_ontology DOID:5093 thoracic cancer An organ system cancer located_in the thoracic cavity that develops in the different types of cells within the lungs, as well as less common cancers of the esophagus, the trachea, or the chest wall. url:http://www.advocatehealth.com/cmc/body.cfm?id=203 Thoracic tumor NCI2004_11_17:C3406 thorax neoplasm CSP2005:2005-5041 tumor of thorax SNOMEDCT_2005_07_31:255058005 Axillary neoplasm neoplasm of axilla (disorder) disease_ontology DOID:5097 axillary cancer true Axillary neoplasm NCI2004_11_17:C35749 neoplasm of axilla (disorder) SNOMEDCT_2005_07_31:126639006 An auditory system cancer that is located_in the middle ear. NCI:C4412 SNOMEDCT_US_2016_03_01:127006003 UMLS_CUI:C0345617 neoplasm of middle ear (disorder) tumor of the middle ear disease_ontology DOID:5099 middle ear cancer An auditory system cancer that is located_in the middle ear. url:http://my.clevelandclinic.org/services/head-neck/diseases-conditions/tumors neoplasm of middle ear (disorder) SNOMEDCT_2005_07_31:127006003 tumor of the middle ear NCI2004_11_17:C4412 NCI:C27065 SNOMEDCT_US_2016_03_01:155260002 SNOMEDCT_US_2016_03_01:194327004 SNOMEDCT_US_2016_03_01:232250008 SNOMEDCT_US_2016_03_01:300195001 SNOMEDCT_US_2016_03_01:68996008 UMLS_CUI:C0271428 disease_ontology DOID:5100 middle ear disease MESH:D004428 UMLS_CUI:C0751094 malignant tumor of ear disease_ontology DOID:5101 auricular cancer malignant tumor of ear NCI2004_11_17:C9337 NCI:C39784 UMLS_CUI:C1512779 disease_ontology DOID:5102 inner ear cancer NCI:C27617 SNOMEDCT_US_2016_03_01:33793000 UMLS_CUI:C0392041 infarction of testis testicular infarction disease_ontology DOID:5104 testicular infarct infarction of testis SNOMEDCT_2005_07_31:33793000 testicular infarction NCI2004_11_17:C27617 Achromic nevus (disorder) Nonpigmented nevus Nonpigmented nevus (morphologic abnormality) disease_ontology DOID:5107 achromic nevus true Achromic nevus (disorder) SNOMEDCT_2005_07_31:403541001 Nonpigmented nevus NCI2004_11_17:C27095 Nonpigmented nevus (morphologic abnormality) SNOMEDCT_2005_07_31:112680001 MESH:D013540 SNOMEDCT_US_2016_03_01:78714004 UMLS_CUI:C0038981 Swayback of sheep (disorder) disease_ontology DOID:5112 swayback Swayback of sheep (disorder) SNOMEDCT_2005_07_31:78714004 MESH:D003677 UMLS_CUI:C0011156 disease_ontology DOID:5113 nutritional deficiency disease A viral infectious disease that results_in infection in cattle, located_in intestine, has_material_basis_in Bovine viral diarrhea virus 1, which is transmitted_by ingestion of infected food, or transmitted_by nasal secretions. The infection has_symptom lesions in the mucosa of digestive tract, has_symptom necrosis of lymphoid tissue, has_symptom hoof inflammation and dermatitis, and has_symptom diarrhea. disease_ontology DOID:5115 bovine virus diarrhea-mucosal disease true A viral infectious disease that results_in infection in cattle, located_in intestine, has_material_basis_in Bovine viral diarrhea virus 1, which is transmitted_by ingestion of infected food, or transmitted_by nasal secretions. The infection has_symptom lesions in the mucosa of digestive tract, has_symptom necrosis of lymphoid tissue, has_symptom hoof inflammation and dermatitis, and has_symptom diarrhea. url:http://www.inta.gov.ar/balcarce/info/documentos/ganaderia/bovinos/sanidad/enf_repro/OdeonBVDV.pdf Dermoid Cyst of the CNS disease_ontology DOID:5116 central nervous system dermoid cyst true Dermoid Cyst of the CNS NCI2004_11_17:C5508 MESH:C562731 NCI:C3856 OMIM:166950 SNOMEDCT_US_2016_03_01:119424003 SNOMEDCT_US_2016_03_01:154618004 SNOMEDCT_US_2016_03_01:189116006 SNOMEDCT_US_2016_03_01:269641006 UMLS_CUI:C0237020 Dermoid cyst (& [ovarian]) Dermoid cyst of ovary Dermoid cyst of ovary (disorder) Ovarian Dermoid Cyst disease_ontology DOID:5117 OMIM mapping confirmed by DO. [SN]. dermoid cyst of ovary Dermoid cyst (& [ovarian]) SNOMEDCT_2005_07_31:154618004 Dermoid cyst (& [ovarian]) SNOMEDCT_2005_07_31:269641006 Dermoid cyst of ovary SNOMEDCT_2005_07_31:189116006 Dermoid cyst of ovary (disorder) SNOMEDCT_2005_07_31:119424003 Ovarian Dermoid Cyst NCI2004_11_17:C3856 NCI:C7283 UMLS_CUI:C1335155 disease_ontology DOID:5118 ovarian cystic teratoma ICD10CM:N83.2 ICD9CM:620.2 SNOMEDCT_US_2016_03_01:198586000 UMLS_CUI:C0029513 disease_ontology DOID:5119 ovarian cyst NCI:C39958 SNOMEDCT_US_2016_03_01:126902008 UMLS_CUI:C0346239 neoplasm of epididymis (disorder) disease_ontology DOID:512 epididymal neoplasm neoplasm of epididymis (disorder) SNOMEDCT_2005_07_31:126902008 A Herpesviridae infectious disease that results_in infection in children, has_material_basis_in Human herpesvirus 6 and has_material_basis_in Human herpesvirus 7. disease_ontology DOID:5120 Roseolovirus infectious disease true A Herpesviridae infectious disease that results_in infection in children, has_material_basis_in Human herpesvirus 6 and has_material_basis_in Human herpesvirus 7. url:http://en.wikipedia.org/wiki/Roseolovirus NCI:C6598 UMLS_CUI:C1334659 leiomyoma of mediastinum disease_ontology DOID:5123 mediastinum leiomyoma leiomyoma of mediastinum NCI2004_11_17:C6598 NCI:C40127 UMLS_CUI:C1517115 disease_ontology DOID:5124 fallopian tube leiomyoma NCI:C5855 UMLS_CUI:C1333507 leiomyoma of the extrahepatic bile duct disease_ontology DOID:5125 extrahepatic bile duct leiomyoma leiomyoma of the extrahepatic bile duct NCI2004_11_17:C5855 NCI:C6998 UMLS_CUI:C1334382 leiomyoma of CNS disease_ontology DOID:5126 central nervous system leiomyoma leiomyoma of CNS NCI2004_11_17:C6998 NCI:C4257 SNOMEDCT_US_2016_03_01:48897006 UMLS_CUI:C0334478 Atypical leiomyoma Pleomorphic leiomyoma Symplastic leiomyoma disease_ontology DOID:5127 bizarre leiomyoma Atypical leiomyoma NCI2004_11_17:C4257 Pleomorphic leiomyoma NCI2004_11_17:C6513 Symplastic leiomyoma SNOMEDCT_2005_07_31:48897006 NCI:C6512 UMLS_CUI:C1333266 disease_ontology DOID:5128 deep leiomyoma ICD9CM:345.51 UMLS_CUI:C0154712 disease_ontology DOID:5129 simple partial epilepsy NCI:C4482 SNOMEDCT_US_2016_03_01:254767008 UMLS_CUI:C0346064 Cutaneous leiomyoma (disorder) leiomyoma of the skin disease_ontology DOID:5132 leiomyoma cutis Cutaneous leiomyoma (disorder) SNOMEDCT_2005_07_31:254767008 leiomyoma of the skin NCI2004_11_17:C4482 Smooth Muscle skin neoplasm skin tumor of smooth muscle origin (disorder) disease_ontology DOID:5133 skin tumor of smooth muscle origin true Smooth Muscle skin neoplasm NCI2004_11_17:C4480 skin tumor of smooth muscle origin (disorder) SNOMEDCT_2005_07_31:254765000 NCI:C5608 UMLS_CUI:C1332266 leiomyoma of anus disease_ontology DOID:5134 anus leiomyoma leiomyoma of anus NCI2004_11_17:C5608 NCI:C5660 SNOMEDCT_US_2016_03_01:707374005 UMLS_CUI:C1334447 pulmonary leiomyoma disease_ontology DOID:5136 lung leiomyoma pulmonary leiomyoma NCI2004_11_17:C5660 NCI:C6743 UMLS_CUI:C1335380 leiomyoma of Pericardium disease_ontology DOID:5137 pericardium leiomyoma leiomyoma of Pericardium NCI2004_11_17:C6743 MESH:D018231 NCI:C3748 SNOMEDCT_US_2016_03_01:189789002 SNOMEDCT_US_2016_03_01:75210008 UMLS_CUI:C0206654 leiomyomatosis, no ICD-O subtype (morphologic abnormality) disease_ontology DOID:5138 leiomyomatosis leiomyomatosis, no ICD-O subtype (morphologic abnormality) SNOMEDCT_2005_07_31:75210008 NCI:C4256 SNOMEDCT_US_2016_03_01:90955001 UMLS_CUI:C0334477 cellular leiomyoma (morphologic abnormality) disease_ontology DOID:5139 cellular leiomyoma cellular leiomyoma (morphologic abnormality) SNOMEDCT_2005_07_31:90955001 NCI:C5747 UMLS_CUI:C1333745 leiomyoma of the gallbladder disease_ontology DOID:5140 gallbladder leiomyoma leiomyoma of the gallbladder NCI2004_11_17:C5747 NCI:C40326 UMLS_CUI:C1520087 disease_ontology DOID:5142 vulvar leiomyoma NCI:C5677 UMLS_CUI:C1333113 leiomyoma of large Intestine disease_ontology DOID:5143 large bowel leiomyoma leiomyoma of large Intestine NCI2004_11_17:C5677 NCI:C5514 UMLS_CUI:C1332327 Appendiceal leiomyoma disease_ontology DOID:5146 appendix leiomyoma Appendiceal leiomyoma NCI2004_11_17:C5514 NCI:C4483 SNOMEDCT_US_2016_03_01:254770007 UMLS_CUI:C0346066 Dartoic leiomyoma Dartoic myoma disease_ontology DOID:5147 dartoic leiomyoma Dartoic leiomyoma NCI2004_11_17:C4483 Dartoic myoma SNOMEDCT_2005_07_31:254770007 NCI:C6558 SNOMEDCT_US_2016_03_01:404032008 UMLS_CUI:C1275264 epithelioid Neurofibroma epithelioid neurofibroma (disorder) disease_ontology DOID:5149 epithelioid neurofibroma epithelioid Neurofibroma NCI2004_11_17:C6558 epithelioid neurofibroma (disorder) SNOMEDCT_2005_07_31:404032008 NCI:C5746 UMLS_CUI:C1333751 Neurofibroma of the gallbladder disease_ontology DOID:5150 neurofibroma of gallbladder Neurofibroma of the gallbladder NCI2004_11_17:C5746 MESH:D018318 NCI:C3797 SNOMEDCT_US_2016_03_01:403818001 SNOMEDCT_US_2016_03_01:41252002 UMLS_CUI:C0206728 disease_ontology DOID:5151 plexiform neurofibroma NCI:C41427 UMLS_CUI:C1516371 disease_ontology DOID:5152 cellular neurofibroma NCI:C41426 UMLS_CUI:C1510961 disease_ontology DOID:5153 atypical neurofibroma A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in Borna disease virus, which is transmitted_by contact with infected oronasal secretions. The infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment. MESH:D001890 SNOMEDCT_US_2016_03_01:76851008 UMLS_CUI:C0006023 Enzootic encephalomyelitis disease_ontology DOID:5154 borna disease A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in Borna disease virus, which is transmitted_by contact with infected oronasal secretions. The infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment. url:http://www.biomedcentral.com/1471-244X/10/70 Enzootic encephalomyelitis SNOMEDCT_2005_07_31:76851008 NCI:C6559 UMLS_CUI:C1334828 disease_ontology DOID:5155 multiple mucosal neuroma NCI:C9351 UMLS_CUI:C1377913 Mesothelioma of Pleura disease_ontology DOID:5157 benign pleural mesothelioma Mesothelioma of Pleura NCI2004_11_17:C9351 A connective tissue cancer that located_in the pleura. DOID:9917 ICD10CM:C38.4 ICD9CM:163 ICD9CM:163.9 MESH:D010997 NCI:C3332 NCI:C3547 SNOMEDCT_US_2016_03_01:126719004 SNOMEDCT_US_2016_03_01:187880003 SNOMEDCT_US_2016_03_01:363433009 SNOMEDCT_US_2016_03_01:93966009 UMLS_CUI:C0032229 UMLS_CUI:C0153494 Pleural tumor neoplasm of pleura disease_ontology DOID:5158 pleural cancer A connective tissue cancer that located_in the pleura. url:http://en.wikipedia.org/wiki/Pleural_cavity Pleural tumor NCI2004_11_17:C3332 neoplasm of pleura SNOMEDCT_2005_07_31:126719004 MESH:D001162 SNOMEDCT_US_2016_03_01:361133006 SNOMEDCT_US_2016_03_01:60625000 UMLS_CUI:C0003851 Arteriosclerosis obliterans (disorder) Arteriosclerosis obliterans (disorder) [Ambiguous] disease_ontology DOID:5160 arteriosclerosis obliterans Arteriosclerosis obliterans (disorder) SNOMEDCT_2005_07_31:361133006 Arteriosclerosis obliterans (disorder) [Ambiguous] SNOMEDCT_2005_07_31:60625000 disease_ontology DOID:5161 Monckeberg arteriosclerosis ICD10CM:I70 MESH:D050379 NCI:C35543 SNOMEDCT_US_2016_03_01:17941002 UMLS_CUI:C0878486 Arteriolosclerosis (morphologic abnormality) disease_ontology DOID:5162 arteriolosclerosis Arteriolosclerosis (morphologic abnormality) SNOMEDCT_2005_07_31:17941002 An uterine corpus cancer that is located_in the muscles of the uterus or located_in other tissues that support the uterus. NCI:C6339 SNOMEDCT_US_2016_03_01:254877001 UMLS_CUI:C0338113 sarcoma of Corpus Uteri sarcoma of uterus (disorder) disease_ontology DOID:5165 uterine corpus sarcoma An uterine corpus cancer that is located_in the muscles of the uterus or located_in other tissues that support the uterus. url:http://www.cancer.gov/cancertopics/pdq/treatment/uterinesarcoma/Patient sarcoma of Corpus Uteri NCI2004_11_17:C6339 sarcoma of uterus (disorder) SNOMEDCT_2005_07_31:254877001 MESH:D036821 SNOMEDCT_US_2016_03_01:446887007 SNOMEDCT_US_2016_03_01:68738004 UMLS_CUI:C0334695 endometrial Stromal neoplasm endometrial stromal tumor (morphologic abnormality) disease_ontology DOID:5166 endometrial stromal tumor endometrial Stromal neoplasm NCI2004_11_17:C8384 endometrial stromal tumor (morphologic abnormality) SNOMEDCT_2005_07_31:68738004 NCI:C40065 UMLS_CUI:C1518714 disease_ontology DOID:5169 ovarian endometrioid stromal sarcoma NCI:C40270 UMLS_CUI:C3642329 disease_ontology DOID:5170 vaginal endometrial stromal sarcoma NCI:C40269 UMLS_CUI:C3642328 disease_ontology DOID:5171 vaginal endometrial stromal tumor ICD10CM:D07.0 SNOMEDCT_US_2016_03_01:189343006 SNOMEDCT_US_2016_03_01:92582009 UMLS_CUI:C0346191 carcinoma in situ of endometrium endometrial carcinoma in situ disease_ontology DOID:5172 endometrium carcinoma in situ carcinoma in situ of endometrium SNOMEDCT_2005_07_31:92582009 endometrial carcinoma in situ NCI2004_11_17:C9071 NCI:C6951 UMLS_CUI:C1335062 Nonanaplastic renal Wilm's tumor disease_ontology nonanaplastic renal wilms tumor DOID:5176 renal Wilms' tumor Nonanaplastic renal Wilm's tumor NCI2004_11_17:C6951 NCI:C38158 UMLS_CUI:C1334705 disease_ontology metachronous Wilms tumor of the kidney DOID:5178 metachronous kidney Wilms' tumor NCI:C9149 UMLS_CUI:C0279611 mixed cell type renal Wilms tumor disease_ontology DOID:5179 mixed cell type kidney Wilms' tumor mixed cell type renal Wilms tumor NCI2004_11_17:C9149 DOID:13158 ICD10CM:C63.2 ICD9CM:187.7 NCI:C3560 NCI:C4380 SNOMEDCT_US_2016_03_01:126905005 SNOMEDCT_US_2016_03_01:154538005 SNOMEDCT_US_2016_03_01:363454002 SNOMEDCT_US_2016_03_01:93999006 UMLS_CUI:C0153604 UMLS_CUI:C0341790 Scrotal Ca Scrotal tumor malignant Scrotal neoplasm malignant tumor of scrotum (disorder) malignant tumour of scrotum neoplasm of scrotum (disorder) scrotum cancer disease_ontology DOID:518 scrotum neoplasm Scrotal Ca SNOMEDCT_2005_07_31:93999006 Scrotal tumor NCI2004_11_17:C4380 malignant Scrotal neoplasm NCI2004_11_17:C3560 malignant tumor of scrotum (disorder) SNOMEDCT_2005_07_31:363454002 malignant tumour of scrotum SNOMEDCT_2005_07_31:154538005 neoplasm of scrotum (disorder) SNOMEDCT_2005_07_31:126905005 NCI:C9147 UMLS_CUI:C0279609 Blastema Predominant renal Wilms tumor blastema predominant kidney adenosarcoma disease_ontology DOID:5182 blastema predominant kidney Wilms' tumor Blastema Predominant renal Wilms tumor NCI2004_11_17:C9147 A nephroblastoma that results_in either bilateral disease or a family history of Wilms' tumour. NCI:C8496 UMLS_CUI:C0677779 Hereditary Wilms tumor WT1 disease_ontology hereditary Wilms' tumor DOID:5183 hereditary Wilms' tumor A nephroblastoma that results_in either bilateral disease or a family history of Wilms' tumour. url:http://www.cancerindex.org/geneweb/X210202.htm Hereditary Wilms tumor NCI2004_11_17:C8496 A nephroblastoma that recurs over time. relapsed renal Wilms' tumor disease_ontology DOID:5184 recurrent nephroblastoma true A nephroblastoma that recurs over time. url:https://health.google.com/health/ref/Wilms+tumor relapsed renal Wilms' tumor NCI2004_11_17:C7845 A nephroblastoma that results_in an unfavorable appearance under the microscope. They are characterized by a cell nuclei that tends to be very large and distorted. anaplastic renal Wilm's tumor disease_ontology anaplastic renal Wilms tumor DOID:5185 anaplastic renal Wilms' tumor true A nephroblastoma that results_in an unfavorable appearance under the microscope. They are characterized by a cell nuclei that tends to be very large and distorted. url:http://www.cancer.org/docroot/CRI/content/CRI_2_4_1x_What_is_wilms_tumor_46.asp anaplastic renal Wilm's tumor NCI2004_11_17:C6952 NCI:C9146 UMLS_CUI:C0279608 epithelial Predominant renal Wilms tumor epithelial predominant kidney adenosarcoma disease_ontology DOID:5189 epithelial predominant Wilms' tumor epithelial Predominant renal Wilms tumor NCI2004_11_17:C9146 ICD10CM:I77.6 MESH:D001025 NCI:C97085 SNOMEDCT_US_2016_03_01:195368003 SNOMEDCT_US_2016_03_01:70933002 UMLS_CUI:C0003509 disease_ontology DOID:519 aortitis A cervical carcinosarcoma is located_in the cervix with morphological features resembling Wilms tumor of the kidney. NCI:C40236 UMLS_CUI:C1516437 disease_ontology cervical Wilms tumor DOID:5190 cervical Wilms' tumor A cervical carcinosarcoma is located_in the cervix with morphological features resembling Wilms tumor of the kidney. url:http://www.ncbi.nlm.nih.gov/pubmed/10620450 NCI:C9148 UMLS_CUI:C0279610 Stromal Predominant renal Wilms tumor disease_ontology DOID:5191 stromal predominant kidney Wilms' tumor Stromal Predominant renal Wilms tumor NCI2004_11_17:C9148 NCI:C42058 UMLS_CUI:C1517445 disease_ontology DOID:5193 nodular ganglioneuroblastoma NCI:C42057 UMLS_CUI:C1517444 disease_ontology DOID:5194 intermixed schwannian stroma-rich ganglioneuroblastoma NCI:C6594 UMLS_CUI:C1335387 PNS Ganglioneuroblastoma disease_ontology DOID:5195 peripheral nervous system ganglioneuroblastoma PNS Ganglioneuroblastoma NCI2004_11_17:C6594 NCI:C40129 UMLS_CUI:C1517110 disease_ontology DOID:5196 fallopian tube adenomatoid tumor ICD9CM:593.4 SNOMEDCT_US_2016_03_01:197807001 UMLS_CUI:C0029866 disease_ontology DOID:5199 ureteral obstruction An artery disease that is characterized by degeneration of the cells composing the aortic wall. MESH:D001018 NCI:C101253 SNOMEDCT_US_2016_03_01:47040006 UMLS_CUI:C0003493 aortic disorder disorder of the aorta (disorder) disease_ontology DOID:520 aortic disease An artery disease that is characterized by degeneration of the cells composing the aortic wall. url:http://www.hopkinsmedicine.org/heart_vascular_institute/conditions_treatments/conditions/aorta.html url:https://www.cedars-sinai.edu/Patients/Programs-and-Services/Heart-Institute/Conditions/Aortic-Disease.aspx#3 aortic disorder CSP2005:0571-0627 disorder of the aorta (disorder) SNOMEDCT_2005_07_31:47040006 ICD10CM:N13.9 ICD9CM:599.6 ICD9CM:599.60 NCI:C3675 NCI:C79805 SNOMEDCT_US_2016_03_01:197936002 SNOMEDCT_US_2016_03_01:266567006 SNOMEDCT_US_2016_03_01:266636004 SNOMEDCT_US_2016_03_01:7163005 UMLS_CUI:C0178879 Obstructive Uropathy urinary obstruction disease_ontology DOID:5200 urinary tract obstruction Obstructive Uropathy NCI2004_11_17:C3675 urinary obstruction ICD9CM_2006:599.6 A carbohydrate metabolic disorder that has_material_basis_in a deficiency of fructose-1,6-bisphosphatase resulting in hypoglycemia and metabolic acidosis on fasting due to insufficient fructose bisphosphatase for gluconeogenesis. ICD10CM:E74.19 MESH:D015319 OMIM:229700 SNOMEDCT_US_2016_03_01:28183005 UMLS_CUI:C0016756 fructose 1 phosphate aldolase deficiency fructose-1,6-diphosphatase deficiency disease_ontology DOID:5204 OMIM mapping confirmed by DO. [SN]. fructose-1,6-bisphosphatase deficiency A carbohydrate metabolic disorder that has_material_basis_in a deficiency of fructose-1,6-bisphosphatase resulting in hypoglycemia and metabolic acidosis on fasting due to insufficient fructose bisphosphatase for gluconeogenesis. url:http://en.wikipedia.org/wiki/Fructose-1,6-bisphosphatase_deficiency url:http://en.wikipedia.org/wiki/Fructose_bisphosphatase_deficiency url:http://omim.org/entry/229700 fructose 1 phosphate aldolase deficiency CSP2005:1849-3494 disease_ontology DOID:5205 inborn errors fructose metabolism true NCI:C7286 SNOMEDCT_US_2016_03_01:399632009 UMLS_CUI:C1302569 Monodermal teratoma (morphologic abnormality) Ovarian Monodermal teratoma disease_ontology DOID:5207 monodermal teratoma Monodermal teratoma (morphologic abnormality) SNOMEDCT_2005_07_31:399632009 Ovarian Monodermal teratoma NCI2004_11_17:C7286 NCI:C4291 SNOMEDCT_US_2016_03_01:18854008 UMLS_CUI:C0334525 Struma ovarii, malignant (morphologic abnormality) disease_ontology DOID:5208 malignant struma ovarii Struma ovarii, malignant (morphologic abnormality) SNOMEDCT_2005_07_31:18854008 NCI:C40012 UMLS_CUI:C1511104 disease_ontology DOID:5209 benign struma ovarii A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids. MESH:D018981 NCI:C84615 OMIM:PS212065 ORDO:137 SNOMEDCT_US_2016_03_01:238049009 UMLS_CUI:C0282577 carbohydrate-deficient glycoprotein syndrome disease_ontology DOID:5212 Xref MGI. congenital disorder of glycosylation A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids. url:http://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation ICD10CM:G61.81 ICD9CM:357.81 MESH:D020277 NCI:C84636 SNOMEDCT_US_2016_03_01:128209004 SNOMEDCT_US_2016_03_01:444728005 UMLS_CUI:C0393819 chronic inflammatory demyelinating polyradiculoneuropathy (disorder) disease_ontology DOID:5213 chronic inflammatory demyelinating polyradiculoneuropathy chronic inflammatory demyelinating polyradiculoneuropathy (disorder) SNOMEDCT_2005_07_31:128209004 NCI:C27062 SNOMEDCT_US_2016_03_01:23414001 UMLS_CUI:C0270922 peripheral demyelinating neuropathy (disorder) disease_ontology DOID:5214 demyelinating polyneuropathy peripheral demyelinating neuropathy (disorder) SNOMEDCT_2005_07_31:23414001 A viral infectious disease that results_in infection in cattle, has_material_basis_in Bovine ephemeral fever virus, which is transmitted_by Culex, transmitted_by Anopheles, and transmitted_by Culicoides arthropods. The infection has_symptom fever, has_symptom stiffness, has_symptom lameness, has_symptom nasal discharge, has_symptom ocular discharge, has_symptom depression, has_symptom cessation of rumination, and has_symptom constipation. Bovine ephemeral fever Ephemeral fever of cattle Three-Day Sickness Three-Day Stiffsickness disease_ontology DOID:5215 ephemeral fever true A viral infectious disease that results_in infection in cattle, has_material_basis_in Bovine ephemeral fever virus, which is transmitted_by Culex, transmitted_by Anopheles, and transmitted_by Culicoides arthropods. The infection has_symptom fever, has_symptom stiffness, has_symptom lameness, has_symptom nasal discharge, has_symptom ocular discharge, has_symptom depression, has_symptom cessation of rumination, and has_symptom constipation. url:http://en.wikipedia.org/wiki/Bovine_ephemeral_fever url:http://www.cfsph.iastate.edu/Factsheets/pdfs/bovine_ephemeral_fever.pdf Ephemeral fever of cattle SNOMEDCT_2005_07_31:69869002 NCI:C36071 UMLS_CUI:C1167650 disease_ontology DOID:5221 chronic polyneuropathy MESH:D004684 NCI:C35383 SNOMEDCT_US_2016_03_01:111897007 UMLS_CUI:C0338418 disease_ontology DOID:5222 acute necrotizing encephalitis MESH:D007246 NCI:C3836 SNOMEDCT_US_2016_03_01:15296000 SNOMEDCT_US_2016_03_01:162186008 SNOMEDCT_US_2016_03_01:289179008 SNOMEDCT_US_2016_03_01:8619003 UMLS_CUI:C0021359 disease_ontology DOID:5223 infertility NCI:C35796 UMLS_CUI:C1332149 disease_ontology DOID:5224 acute hemorrhagic encephalitis ICD10CM:A85.8 NCI:C26761 SNOMEDCT_US_2016_03_01:186499007 SNOMEDCT_US_2016_03_01:186500003 SNOMEDCT_US_2016_03_01:20411005 UMLS_CUI:C0014040 Encephalitis lethargica von Economo disease disease_ontology DOID:5225 von Economo's disease Encephalitis lethargica SNOMEDCT_2005_07_31:186500003 disease_ontology DOID:5226 vaginal blue nevus true cellular Blue nevus of the skin cellular blue nevus (morphologic abnormality) cellular blue nevus of skin (disorder) disease_ontology DOID:5227 cellular blue nevus true cellular Blue nevus of the skin NCI2004_11_17:C4241 cellular blue nevus (morphologic abnormality) SNOMEDCT_2005_07_31:88006009 cellular blue nevus of skin (disorder) SNOMEDCT_2005_07_31:254808005 Common Blue nevus Common blue nevus of skin (disorder) disease_ontology Blue nevus of Jadassohn-Tieche DOID:5228 common blue nevus true Common Blue nevus NCI2004_11_17:C4496 Common blue nevus of skin (disorder) SNOMEDCT_2005_07_31:254807000 MESH:D017121 NCI:C84754 SNOMEDCT_US_2016_03_01:111386004 UMLS_CUI:C0162569 disease_ontology DOID:5230 hepatoerythropoietic porphyria disease_ontology DOID:5231 peritoneal and retroperitoneal tumors true MESH:D001023 UMLS_CUI:C0003505 disease_ontology DOID:5232 aortic valve prolapse NCI:C4221 SNOMEDCT_US_2016_03_01:128908003 SNOMEDCT_US_2016_03_01:13875003 UMLS_CUI:C1266111 malignant Glomus neoplasm disease_ontology DOID:5233 glomangiosarcoma malignant Glomus neoplasm NCI2004_11_17:C4221 NCI:C36079 SNOMEDCT_US_2016_03_01:403973004 UMLS_CUI:C1304510 Subungual Glomus tumor disease_ontology DOID:5236 subungual glomus tumor Subungual Glomus tumor NCI2004_11_17:C36079 NCI:C6529 UMLS_CUI:C1332532 disease_ontology DOID:5238 benign perivascular tumor disease_ontology DOID:5239 glomus tumor of uncertain malignant potential true A Human immunodeficiency virus infectious disease that results_in inflammation located_in wall of artery of the central nervous system, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. disease_ontology DOID:524 central nervous system AIDS arteritis true A Human immunodeficiency virus infectious disease that results_in inflammation located_in wall of artery of the central nervous system, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. url:http://jnnp.bmj.com/content/80/8/831.long NCI:C39783 UMLS_CUI:C1514915 disease_ontology DOID:5240 retinal hemangioblastoma MESH:D018325 NCI:C3801 SNOMEDCT_US_2016_03_01:81201000 UMLS_CUI:C0206734 Capillary Hemangioblastoma disease_ontology DOID:5241 hemangioblastoma Capillary Hemangioblastoma NCI2004_11_17:C3801 disease_ontology DOID:5242 resectable cholangiocellular carcinoma true disease_ontology DOID:5244 visual alteration true disease_ontology DOID:5245 recurrent cholangiocellular carcinoma true NCI:C36077 disease_ontology DOID:5246 hilar cholangiocellular carcinoma Opisthorchis Viverrini-Related Cholangiocellular carcinoma disease_ontology DOID:5247 liver fluke-related cholangiocarcinoma true Opisthorchis Viverrini-Related Cholangiocellular carcinoma NCI2004_11_17:C27769 disease_ontology DOID:5248 parasite-related carcinoma true MESH:D020293 NCI:C84622 UMLS_CUI:C0751878 disease_ontology DOID:525 central nervous system vasculitis disease_ontology DOID:5250 non-resectable cholangiocellular carcinoma true NCI:C27495 UMLS_CUI:C1334179 disease_ontology DOID:5251 inflammatory leiomyosarcoma relapsed leiomyosarcoma disease_ontology DOID:5252 leiomyosarcoma recurrent true relapsed leiomyosarcoma NCI2004_11_17:C8815 NCI:C9428 UMLS_CUI:C1333157 disease_ontology DOID:5253 conventional leiomyosarcoma NCI:C6999 UMLS_CUI:C1334385 leiomyosarcoma of the CNS disease_ontology DOID:5254 central nervous system leiomyosarcoma leiomyosarcoma of the CNS NCI2004_11_17:C6999 Non-metastatic leiomyosarcoma disease_ontology DOID:5255 leiomyosarcoma nonmetastatic true Non-metastatic leiomyosarcoma NCI2004_11_17:C8814 NCI:C27494 UMLS_CUI:C1333871 disease_ontology DOID:5258 granular cell leiomyosarcoma A leiomyosarcoma and sarcoma of colon that is located_in the colon. NCI:C5494 UMLS_CUI:C1333093 Colonic leiomyosarcoma disease_ontology DOID:5259 colon leiomyosarcoma A leiomyosarcoma and sarcoma of colon that is located_in the colon. url:http://coloncancer.about.com/od/typesofcancer/a/Leiomyosarcoma.htm Colonic leiomyosarcoma NCI2004_11_17:C5494 A viral infectious disease that results_in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has_symptom diarrhea, has_symptom fatigue, has_symptom fever, has_symptom vaginal yeast infection, has_symptom headache, has_symptom mouth sores, has_symptom muscle aches, has_symptom sore throat, and has_symptom swollen lymph glands. ICD10CM:B20 ICD10CM:B20-B20 ICD9CM:042 ICD9CM:042-042.99 MESH:D015658 NCI:C3108 SNOMEDCT_US_2016_03_01:123321001 SNOMEDCT_US_2016_03_01:186705005 SNOMEDCT_US_2016_03_01:187438009 SNOMEDCT_US_2016_03_01:187453001 SNOMEDCT_US_2016_03_01:86406008 UMLS_CUI:C0019693 HIV infection disease_ontology DOID:526 human immunodeficiency virus infectious disease A viral infectious disease that results_in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has_symptom diarrhea, has_symptom fatigue, has_symptom fever, has_symptom vaginal yeast infection, has_symptom headache, has_symptom mouth sores, has_symptom muscle aches, has_symptom sore throat, and has_symptom swollen lymph glands. url:http://en.wikipedia.org/wiki/HIV url:http://www.nlm.nih.gov/medlineplus/ency/article/000602.htm HIV infection CSP2005:1560-6305 A colon cancer that arises from transformed cells of mesenchymal origin and is located_in the colon. NCI:C5495 UMLS_CUI:C1333098 Colonic sarcoma disease_ontology DOID:5260 colon sarcoma A colon cancer that arises from transformed cells of mesenchymal origin and is located_in the colon. url:http://www3.interscience.wiley.com/journal/76043/abstract Colonic sarcoma NCI2004_11_17:C5495 NCI:C5364 UMLS_CUI:C1332848 leiomyosarcoma of Heart disease_ontology DOID:5261 heart leiomyosarcoma leiomyosarcoma of Heart NCI2004_11_17:C5364 A sarcoma and malignant neoplasm of heart that is located_in the heart. NCI:C7723 UMLS_CUI:C0238152 cardiac sarcoma sarcoma of Heart disease_ontology DOID:5262 heart sarcoma A sarcoma and malignant neoplasm of heart that is located_in the heart. url:http://www.urmc.rochester.edu/encyclopedia/content.cfm?pageid=P06597 sarcoma of Heart NCI2004_11_17:C7723 NCI:C5234 UMLS_CUI:C1335163 leiomyosarcoma of Ovary disease_ontology DOID:5263 ovary leiomyosarcoma leiomyosarcoma of Ovary NCI2004_11_17:C5234 MESH:D007890 NCI:C3700 SNOMEDCT_US_2016_03_01:42392001 UMLS_CUI:C0205815 disease_ontology DOID:5264 epithelioid leiomyosarcoma A leiomyosarcoma and sarcoma of lung that is located_in the lung. NCI:C5667 UMLS_CUI:C1334448 pulmonary leiomyosarcoma disease_ontology DOID:5265 lung leiomyosarcoma A leiomyosarcoma and sarcoma of lung that is located_in the lung. url:www.chestjournal.org/cgi/reprint/56/5/452.pdf pulmonary leiomyosarcoma NCI2004_11_17:C5667 disease_ontology DOID:5266 leiomyosarcoma metastatic true A leiomyosarcoma and sarcoma of the anus that is located_in the anus. NCI:C5599 UMLS_CUI:C1332267 leiomyosarcoma of anus disease_ontology DOID:5267 anus leiomyosarcoma A leiomyosarcoma and sarcoma of the anus that is located_in the anus. url:http://www.springerlink.com/content/t57853114066u8n8/ leiomyosarcoma of anus NCI2004_11_17:C5599 MESH:D007890 NCI:C3701 SNOMEDCT_US_2016_03_01:16090008 SNOMEDCT_US_2016_03_01:189792003 UMLS_CUI:C0205816 Myxoid leiomyosarcoma Myxoid leiomyosarcoma (morphologic abnormality) disease_ontology DOID:5268 myxoid leiomyosarcoma Myxoid leiomyosarcoma NCI2004_11_17:C3701 Myxoid leiomyosarcoma SNOMEDCT_2005_07_31:189792003 Myxoid leiomyosarcoma (morphologic abnormality) SNOMEDCT_2005_07_31:16090008 A small intestine sarcoma that affects the involuntary smooth muscles of the small intestines. NCI:C7085 UMLS_CUI:C0920305 leiomyosarcoma of the small Bowel disease_ontology smooth muscle connective tissue tumor DOID:5271 small intestine leiomyosarcoma A small intestine sarcoma that affects the involuntary smooth muscles of the small intestines. url:http://en.wikipedia.org/wiki/Leiomyosarcoma leiomyosarcoma of the small Bowel NCI2004_11_17:C7085 A sarcoma and malignant tumor of small intestine that is located_in the small intestine. NCI:C5335 UMLS_CUI:C1336007 sarcoma of the Small Intestine disease_ontology DOID:5272 small intestinal sarcoma A sarcoma and malignant tumor of small intestine that is located_in the small intestine. url:http://www.cancer.gov/cancertopics/types/smallintestine sarcoma of the Small Intestine NCI2004_11_17:C5335 NCI:C4484 SNOMEDCT_US_2016_03_01:254771006 UMLS_CUI:C0346067 Cutaneous leiomyosarcoma (disorder) leiomyosarcoma of the skin disease_ontology DOID:5273 cutaneous leiomyosarcoma Cutaneous leiomyosarcoma (disorder) SNOMEDCT_2005_07_31:254771006 leiomyosarcoma of the skin NCI2004_11_17:C4484 NCI:C4574 SNOMEDCT_US_2016_03_01:255096006 UMLS_CUI:C0346811 malignant neoplasm of Dermis malignant tumor of dermis (disorder) disease_ontology DOID:5274 malignant dermis tumor malignant neoplasm of Dermis NCI2004_11_17:C4574 malignant tumor of dermis (disorder) SNOMEDCT_2005_07_31:255096006 A gallbladder sarcoma that is located_in the gallbladder. NCI:C5841 UMLS_CUI:C1333746 leiomyosarcoma of the gallbladder disease_ontology DOID:5275 gallbladder leiomyosarcoma A gallbladder sarcoma that is located_in the gallbladder. url:http://en.wikipedia.org/wiki/Leiomyosarcoma url:http://www.ncbi.nlm.nih.gov/pubmed/2278917 leiomyosarcoma of the gallbladder NCI2004_11_17:C5841 NCI:C5334 UMLS_CUI:C1333454 leiomyosarcoma of esophagus disease_ontology DOID:5276 esophagus leiomyosarcoma leiomyosarcoma of esophagus NCI2004_11_17:C5334 disease_ontology DOID:5278 pediatric leiomyosarcoma true ICD9CM:719.08 SNOMEDCT_US_2016_03_01:156579009 SNOMEDCT_US_2016_03_01:202370001 UMLS_CUI:C0158157 disease_ontology DOID:528 hydrarthrosis NCI:C27200 SNOMEDCT_US_2016_03_01:447785000 UMLS_CUI:C0744295 disease_ontology DOID:5280 gastric leiomyosarcoma malignant mesenchymal neoplasm of stomach disease_ontology DOID:5281 malignant mesenchymal neoplasm of the stomach true malignant mesenchymal neoplasm of stomach NCI2004_11_17:C27439 A prostate sarcoma that is located_in the prostate. NCI:C5526 UMLS_CUI:C1335511 leiomyosarcoma of the prostate disease_ontology DOID:5282 prostate leiomyosarcoma A prostate sarcoma that is located_in the prostate. url:http://www3.interscience.wiley.com/journal/112677325/abstract leiomyosarcoma of the prostate NCI2004_11_17:C5526 NCI:C6326 UMLS_CUI:C1336940 leiomyosarcoma of the vagina disease_ontology DOID:5283 vagina leiomyosarcoma leiomyosarcoma of the vagina NCI2004_11_17:C6326 NCI:C27904 disease_ontology DOID:5284 retroperitoneal leiomyosarcoma NCI:C5186 UMLS_CUI:C1332631 leiomyosarcoma of the breast disease_ontology DOID:5285 breast leiomyosarcoma leiomyosarcoma of the breast NCI2004_11_17:C5186 NCI:C40318 disease_ontology DOID:5286 vulvar leiomyosarcoma A leiomyosarcoma and sarcoma of kidney that is located_in the kidney. NCI:C6183 UMLS_CUI:C1335743 leiomyosarcoma of kidney disease_ontology DOID:5287 kidney leiomyosarcoma A leiomyosarcoma and sarcoma of kidney that is located_in the kidney. url:http://www.sage-hindawi.com/journals/pri/2010/652398.html leiomyosarcoma of kidney NCI2004_11_17:C6183 A larynx sarcoma that is a smooth muscle connective tissue tymor located_in the larynx. NCI:C6022 UMLS_CUI:C1334371 leiomyosarcoma of Larynx disease_ontology DOID:5288 larynx leiomyosarcoma A larynx sarcoma that is a smooth muscle connective tissue tymor located_in the larynx. url:http://findarticles.com/p/articles/mi_m0BUM/is_7_84/ai_n14920168/ leiomyosarcoma of Larynx NCI2004_11_17:C6022 A uterine Corpus sarcoma and leiomyosarcoma and uterine Corpus smooth muscle neoplasm that is located_in the smooth muscle of the uterus. NCI:C6340 SNOMEDCT_US_2016_03_01:447389009 UMLS_CUI:C0280631 leiomyosarcoma of Corpus Uteri disease_ontology DOID:5289 uterus leiomyosarcoma A uterine Corpus sarcoma and leiomyosarcoma and uterine Corpus smooth muscle neoplasm that is located_in the smooth muscle of the uterus. url:http://en.wikipedia.org/wiki/Leiomyosarcoma leiomyosarcoma of Corpus Uteri NCI2004_11_17:C6340 A focal dystonia that is characterized by the involuntary, forcible contraction of the muscles controlling eye blinks. ICD10CM:G24.5 ICD9CM:333.81 MESH:D001764 NCI:C118723 OMIM:606798 SNOMEDCT_US_2016_03_01:155009007 SNOMEDCT_US_2016_03_01:267690000 SNOMEDCT_US_2016_03_01:59026006 UMLS_CUI:C0005747 disease_ontology DOID:529 OMIM mapping confirmed by DO. [SN]. blepharospasm A focal dystonia that is characterized by the involuntary, forcible contraction of the muscles controlling eye blinks. url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm disease_ontology DOID:5290 uterine corpus smooth muscle neoplasm true disease_ontology DOID:5291 adult leiomyosarcoma true A leiomyosarcoma and sarcoma of the mediastinum that derive_from smooth muscle and are usually located_in the esophagus or located_in the main vessels. NCI:C6619 UMLS_CUI:C1334660 leiomyosarcoma of mediastinum disease_ontology DOID:5292 mediastinum leiomyosarcoma A leiomyosarcoma and sarcoma of the mediastinum that derive_from smooth muscle and are usually located_in the esophagus or located_in the main vessels. url:http://ejcts.ctsnetjournals.org/cgi/content/full/21/5/943 leiomyosarcoma of mediastinum NCI2004_11_17:C6619 A leiomyosarcoma and sarcoma of bile duct that is located_in the bile duct or located_in the outside of the liver. NCI:C5848 UMLS_CUI:C1333508 leiomyosarcoma of the bile duct disease_ontology DOID:5293 extrahepatic bile duct leiomyosarcoma A leiomyosarcoma and sarcoma of bile duct that is located_in the bile duct or located_in the outside of the liver. url:http://www.cancer.gov/dictionary/?CdrID=44498 url:http://www.cancer.gov/dictionary/?CdrID=46027 leiomyosarcoma of the bile duct NCI2004_11_17:C5848 leiomyosarcoma of Vessels disease_ontology DOID:5294 vessel leiomyosarcoma true leiomyosarcoma of Vessels NCI2004_11_17:C5387 A gastrointestinal system disease that is located_in the intestine. DOID:10759 DOID:11222 DOID:11789 DOID:8531 DOID:8558 DOID:8591 ICD10CM:K63.9 ICD9CM:569.9 MESH:D007410 NCI:C26801 SNOMEDCT_US_2016_03_01:155629009 SNOMEDCT_US_2016_03_01:197266001 SNOMEDCT_US_2016_03_01:266483008 SNOMEDCT_US_2016_03_01:85919009 UMLS_CUI:C0021831 disease_ontology DOID:5295 intestinal disease A gastrointestinal system disease that is located_in the intestine. url:http://en.wikipedia.org/wiki/Human_gastrointestinal_tract A leiomyosarcoma and sarcoma of liver that is located_in the liver. NCI:C5756 UMLS_CUI:C1333969 leiomyosarcoma of the Liver disease_ontology DOID:5296 liver leiomyosarcoma A leiomyosarcoma and sarcoma of liver that is located_in the liver. url:http://www.cancer.gov/dictionary/?CdrID=46027 leiomyosarcoma of the Liver NCI2004_11_17:C5756 A rectum sarcoma that is a smooth muscle tumor and is located_in the rectum. NCI:C5549 UMLS_CUI:C1335683 leiomyosarcoma of rectum disease_ontology DOID:5297 rectum leiomyosarcoma A rectum sarcoma that is a smooth muscle tumor and is located_in the rectum. url:http://coloncancer.about.com/od/typesofcancer/a/Leiomyosarcoma.htm leiomyosarcoma of rectum NCI2004_11_17:C5549 NCI:C8028 UMLS_CUI:C0279765 Clear cell carcinoma of Endometrium disease_ontology DOID:5299 endometrial clear cell adenocarcinoma Clear cell carcinoma of Endometrium NCI2004_11_17:C8028 An endocrine system disease that is located_in the pituitary gland. DOID:2445 DOID:8713 DOID:8714 ICD9CM:253.1 UMLS_CUI:C0029493 pituitary disease disease_ontology DOID:53 pituitary gland disease An endocrine system disease that is located_in the pituitary gland. url:http://en.wikipedia.org/wiki/Pituitary_disease An adnexa disease that is located_in the eyelid. ICD10CM:H02.9 ICD9CM:374.9 MESH:D005141 NCI:C26768 SNOMEDCT_US_2016_03_01:155180006 SNOMEDCT_US_2016_03_01:193970000 SNOMEDCT_US_2016_03_01:267737009 SNOMEDCT_US_2016_03_01:60113004 UMLS_CUI:C0015423 disease_ontology DOID:530 eyelid disease An adnexa disease that is located_in the eyelid. url:http://en.wikipedia.org/wiki/Eye_disease#H00-H06_Disorders_of_eyelid.2C_lacrimal_system_and_orbit NCI:C6280 UMLS_CUI:C1333591 Clear cell carcinoma of the fallopian tube disease_ontology DOID:5301 fallopian tube clear cell adenocarcinoma Clear cell carcinoma of the fallopian tube NCI2004_11_17:C6280 NCI:C40139 UMLS_CUI:C1519867 disease_ontology DOID:5302 uterine ligament clear cell adenocarcinoma NCI:C6344 UMLS_CUI:C1332912 Clear cell carcinoma of the Cervix Uteri disease_ontology DOID:5303 cervical clear cell adenocarcinoma Clear cell carcinoma of the Cervix Uteri NCI2004_11_17:C6344 NCI:C40078 UMLS_CUI:C1518693 disease_ontology DOID:5304 ovarian clear cell adenocarcinoma disease_ontology DOID:5305 malignant ovarian clear cell neoplasm true NCI:C6179 UMLS_CUI:C1332557 bladder Mesonephric adenocarcinoma disease_ontology clear cell adenocarcinoma of bladder DOID:5306 bladder clear cell adenocarcinoma bladder Mesonephric adenocarcinoma NCI2004_11_17:C6179 NCI:C6172 UMLS_CUI:C1336886 Clear cell adenocarcinoma of the urethra disease_ontology DOID:5307 urethra clear cell adenocarcinoma Clear cell adenocarcinoma of the urethra NCI2004_11_17:C6172 NCI:C27414 UMLS_CUI:C1332246 disease_ontology DOID:5308 ampulla of Vater clear cell adenocarcinoma NCI:C4199 SNOMEDCT_US_2016_03_01:189722008 SNOMEDCT_US_2016_03_01:9618003 UMLS_CUI:C0334392 disease_ontology DOID:5309 epithelial-myoepithelial carcinoma DOID:5311 NCI:C40368 NCI:C4153 SNOMEDCT_US_2016_03_01:189656007 SNOMEDCT_US_2016_03_01:74280008 UMLS_CUI:C0334319 UMLS_CUI:C1512224 Glycogen-Rich carcinoma Glycogen-rich carcinoma (morphologic abnormality) glycogen-rich carcinoma disease_ontology DOID:5310 glycogen-rich clear cell breast carcinoma Glycogen-Rich carcinoma NCI2004_11_17:C4153 Glycogen-rich carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:74280008 disease_ontology DOID:5312 miscellaneous mesenchymal neoplasm true An alveolar soft part sarcoma and vulvar sarcoma that is located_in the vulva. NCI:C40320 UMLS_CUI:C1520069 disease_ontology DOID:5313 vulvar alveolar soft part sarcoma An alveolar soft part sarcoma and vulvar sarcoma that is located_in the vulva. url:http://www.ncbi.nlm.nih.gov/pubmed/7060986 An alveolar soft part sarcoma that recurs over time. relapsed Alveolar soft Part sarcoma disease_ontology DOID:5314 alveolar soft part sarcoma recurrent true An alveolar soft part sarcoma that recurs over time. url:http://www.childrenshospital.org/az/Site564/mainpageS564P0.html relapsed Alveolar soft Part sarcoma NCI2004_11_17:C8798 An alveolar soft part sarcoma that has not spread to other parts of the body. Non-metastatic Alveolar soft Part sarcoma disease_ontology DOID:5316 alveolar soft part sarcoma nonmetastatic true An alveolar soft part sarcoma that has not spread to other parts of the body. url:http://www.childrenshospital.org/az/Site564/mainpageS564P0.html Non-metastatic Alveolar soft Part sarcoma NCI2004_11_17:C8797 An alveolar soft part sarcoma that has spread to other parts of the body. disease_ontology DOID:5317 alveolar soft part sarcoma metastatic true An alveolar soft part sarcoma that has spread to other parts of the body. url:http://www.childrenshospital.org/az/Site564/mainpageS564P0.html disease_ontology DOID:5323 fallopian tube serous tumor true NCI:C40130 UMLS_CUI:C1517114 disease_ontology fallopian tube germ cell neoplasm DOID:5324 fallopian tube germ cell cancer MESH:C535687 NCI:C4681 OMIM:268300 SNOMEDCT_US_2016_03_01:48718006 UMLS_CUI:C0392475 LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE disease_ontology DOID:5325 OMIM mapping confirmed by DO. [SN]. Roberts syndrome Partial recent retinal detachment with single defect (disorder) Recent retinal detachment, partial, with single defect disease_ontology DOID:5326 Partial recent retinal detachment with single defect true Partial recent retinal detachment with single defect (disorder) SNOMEDCT_2005_07_31:3598000 Recent retinal detachment, partial, with single defect ICD9CM_2006:361.01 ICD10CM:H33.2 ICD9CM:361.9 MESH:D012163 NCI:C26874 SNOMEDCT_US_2016_03_01:155103005 SNOMEDCT_US_2016_03_01:193347002 SNOMEDCT_US_2016_03_01:42059000 UMLS_CUI:C0035305 disease_ontology DOID:5327 retinal detachment Retinal detachment with defect NOS (disorder) Retinal detachment with retinal defect Retinal detachment with retinal defect (disorder) Retinal detachment with retinal defect, unspecified Unspecified retinal detachment with retinal defect (disorder) disease_ontology DOID:5328 retinal detachment and defect true Retinal detachment with defect NOS (disorder) SNOMEDCT_2005_07_31:193328000 Retinal detachment with retinal defect ICD9CM_2006:361.0 Retinal detachment with retinal defect (disorder) SNOMEDCT_2005_07_31:56202001 Retinal detachment with retinal defect, unspecified ICD9CM_2006:361.00 Unspecified retinal detachment with retinal defect (disorder) SNOMEDCT_2005_07_31:193318009 DOID:11024 ICD10CM:E32 ICD10CM:E32.9 ICD9CM:254 ICD9CM:254.9 NCI:C26962 SNOMEDCT_US_2016_03_01:154703006 SNOMEDCT_US_2016_03_01:190500009 SNOMEDCT_US_2016_03_01:20673009 SNOMEDCT_US_2016_03_01:267482009 UMLS_CUI:C0154199 disease of thymus gland disease_ontology DOID:533 thymus gland disease MESH:D003788 NCI:C34530 SNOMEDCT_US_2016_03_01:57203004 UMLS_CUI:C0011405 Dental pulp disorder disorder of pulp of tooth (disorder) pulp disorder disease_ontology DOID:5330 dental pulp disease Dental pulp disorder NCI2004_11_17:C34530 disorder of pulp of tooth (disorder) SNOMEDCT_2005_07_31:57203004 pulp disorder CSP2005:0834-4423 NCI:C6357 UMLS_CUI:C1336709 Granulosa cell tumor of testis disease_ontology DOID:5331 testicular granulosa cell tumor Granulosa cell tumor of testis NCI2004_11_17:C6357 ICD10CM:N47.2 MESH:D010263 NCI:C34893 SNOMEDCT_US_2016_03_01:13758004 SNOMEDCT_US_2016_03_01:155922002 UMLS_CUI:C0030483 disease_ontology DOID:5334 paraphimosis disease_ontology DOID:5335 renal neoplasm with t(6;11)(p21;q12) true MESH:D005882 NCI:C3948 SNOMEDCT_US_2016_03_01:45676007 SNOMEDCT_US_2016_03_01:71708001 UMLS_CUI:C0266919 Gingival polyp epulides polyp of Gum disease_ontology DOID:5337 epulis Gingival polyp MTHICD9_2006:523.8 polyp of Gum NCI2004_11_17:C3948 MESH:D005886 SNOMEDCT_US_2016_03_01:441787004 SNOMEDCT_US_2016_03_01:54711002 UMLS_CUI:C0017567 hypertrophy of gingivae disease_ontology DOID:5338 gingival hypertrophy hypertrophy of gingivae SNOMEDCT_2005_07_31:54711002 ICD10CM:D70.4 ICD9CM:288.02 MESH:C536227 NCI:C3820 OMIM:162800 SNOMEDCT_US_2016_03_01:191347008 SNOMEDCT_US_2016_03_01:234575007 SNOMEDCT_US_2016_03_01:69295006 UMLS_CUI:C0221023 Cyclic Hematopoiesis Cyclic neutropenia (disorder) Cyclical neutropenia Cyclical neutropenia (disorder) Neutropenia, periodic cyclic agranulocytosis disease_ontology DOID:5339 OMIM mapping confirmed by DO. [SN]. cyclic hematopoiesis Cyclic Hematopoiesis NCI2004_11_17:C3820 Cyclic neutropenia (disorder) SNOMEDCT_2005_07_31:69295006 Cyclical neutropenia SNOMEDCT_2005_07_31:234575007 Cyclical neutropenia (disorder) SNOMEDCT_2005_07_31:191347008 Neutropenia, periodic MTHICD9_2006:288.0 disease_ontology DOID:534 persistent disorder of initiating or maintaining wakefulness true An amnestic disorder that involves the impaired or lost ability to memorize new things. ICD10CM:R41.1 MESH:D020324 SNOMEDCT_US_2016_03_01:206789002 SNOMEDCT_US_2016_03_01:88822006 UMLS_CUI:C0233795 disease_ontology DOID:5340 anterograde amnesia An amnestic disorder that involves the impaired or lost ability to memorize new things. url:http://en.wikipedia.org/wiki/Amnesia NCI:C6752 UMLS_CUI:C1335420 Pineal Region Yolk Sac neoplasm disease_ontology DOID:5341 pineal region yolk sac tumor Pineal Region Yolk Sac neoplasm NCI2004_11_17:C6752 An endodermal sinus tumor that occurs in children. NCI:C27364 UMLS_CUI:C1333016 childhood endodermal sinus neoplasm pediatric Yolk Sac tumor disease_ontology DOID:5342 childhood endodermal sinus tumor An endodermal sinus tumor that occurs in children. url:http://en.wikipedia.org/wiki/Endodermal_sinus_tumor pediatric Yolk Sac tumor NCI2004_11_17:C27364 DOID:6051 NCI:C6209 NCI:C7011 UMLS_CUI:C1337040 UMLS_CUI:C1377613 Yolk Sac tumor of the CNS childhood central nervous system endodermal sinus neoplasm pediatric central nervous system Yolk Sac tumor disease_ontology DOID:5343 central nervous system endodermal sinus tumor Yolk Sac tumor of the CNS NCI2004_11_17:C7011 pediatric central nervous system Yolk Sac tumor NCI2004_11_17:C6209 NCI:C8000 UMLS_CUI:C0279708 testicular Yolk Sac neoplasm disease_ontology DOID:5344 testicular yolk sac tumor testicular Yolk Sac neoplasm NCI2004_11_17:C8000 NCI:C5027 UMLS_CUI:C1334625 malignant Non-Seminomatous germ cell tumor of testis disease_ontology DOID:5345 testicular non-seminomatous germ cell cancer malignant Non-Seminomatous germ cell tumor of testis NCI2004_11_17:C5027 Yolk Sac tumor of mediastinum mediastinal endodermal sinus neoplasm disease_ontology DOID:5346 mediastinal endodermal sinus tumor true Yolk Sac tumor of mediastinum NCI2004_11_17:C6443 Non-Seminomatous malignant germ cell tumor of mediastinum disease_ontology DOID:5347 mediastinal non-seminomatous germ cell cancer true Non-Seminomatous malignant germ cell tumor of mediastinum NCI2004_11_17:C6439 An endodermal sinus tumor that occurs in adults. NCI:C27241 UMLS_CUI:C1332221 adult Yolk Sac neoplasm adult endodermal sinus neoplasm disease_ontology DOID:5348 adult endodermal sinus tumor An endodermal sinus tumor that occurs in adults. url:http://en.wikipedia.org/wiki/Endodermal_sinus_tumor adult Yolk Sac neoplasm NCI2004_11_17:C27241 NCI:C6285 UMLS_CUI:C0280796 germ cell tumor of the adult CNS disease_ontology DOID:5349 central nervous system adult germ cell tumor germ cell tumor of the adult CNS NCI2004_11_17:C6285 A disease of mental health that involves disruption of sleep patterns. DOID:9028 ICD9CM:307.4 UMLS_CUI:C0154564 Non-organic sleep disorder disease_ontology DOID:535 sleep disorder A disease of mental health that involves disruption of sleep patterns. url:http://en.wikipedia.org/wiki/Sleep_disorder Non-organic sleep disorder SNOMEDCT_2005_07_31:192453005 NCI:C8107 SNOMEDCT_US_2016_03_01:254876005 UMLS_CUI:C0346188 Endodermal sinus tumor of ovary (disorder) Ovarian Yolk Sac tumor disease_ontology DOID:5350 ovarian endodermal sinus tumor Endodermal sinus tumor of ovary (disorder) SNOMEDCT_2005_07_31:254876005 Ovarian Yolk Sac tumor NCI2004_11_17:C8107 NCI:C39986 UMLS_CUI:C1518727 disease_ontology DOID:5351 ovarian primitive germ cell tumor DOID:10758 MESH:D003108 SNOMEDCT_US_2016_03_01:128524007 UMLS_CUI:C0009373 colon disorder disease_ontology DOID:5353 colonic disease colon disorder CSP2005:1248-3971 disease_ontology DOID:5354 lung PAP-AD true mucinous Bronchoalveolar lung carcinoma disease_ontology DOID:5355 mucinous bronchioloalveolar lung carcinoma true mucinous Bronchoalveolar lung carcinoma NCI2004_11_17:C7268 Non-mucinous Bronchoalveolar lung carcinoma disease_ontology DOID:5358 non-mucinous bronchioloalveolar lung carcinoma true Non-mucinous Bronchoalveolar lung carcinoma NCI2004_11_17:C7269 disease_ontology DOID:5359 pure BAC true disease_ontology DOID:536 persistent disorder of initiating or maintaining sleep true disease_ontology DOID:5360 AD-BAC true mixed mucinous and Non-mucinous Bronchoalveolar lung carcinoma disease_ontology DOID:5361 mixed mucinous and non-mucinous bronchioloalveolar lung carcinoma true mixed mucinous and Non-mucinous Bronchoalveolar lung carcinoma NCI2004_11_17:C7270 A viral infectious disease that results_in infection located_in mouth, has_material_basis_in human papillomavirus (types 13 or 32), has_symptom papules or nodules in the oral cavity. MESH:D017573 NCI:C97083 OMIM:229045 SNOMEDCT_US_2016_03_01:36949004 SNOMEDCT_US_2016_03_01:6121001 UMLS_CUI:C0206067 Heck disease Heck's disease Multifocal epithelial hyperplasia disease_ontology DOID:5362 OMIM mapping confirmed by DO. [SN]. focal epithelial hyperplasia A viral infectious disease that results_in infection located_in mouth, has_material_basis_in human papillomavirus (types 13 or 32), has_symptom papules or nodules in the oral cavity. url:http://www.ams.ac.ir/aim/010131/0012.pdf Multifocal epithelial hyperplasia SNOMEDCT_2005_07_31:6121001 MESH:D018208 OMIM:613488 SNOMEDCT_US_2016_03_01:27849002 SNOMEDCT_US_2016_03_01:404069006 UMLS_CUI:C0206634 Myxoid Liposarcoma Myxoid liposarcoma (disorder) Myxoid liposarcoma (morphologic abnormality) disease_ontology DOID:5363 OMIM mapping confirmed by DO. [SN]. myxoid liposarcoma Myxoid Liposarcoma NCI2004_11_17:C3735 Myxoid liposarcoma (disorder) SNOMEDCT_2005_07_31:404069006 Myxoid liposarcoma (morphologic abnormality) SNOMEDCT_2005_07_31:27849002 ICD10CM:R91.1 MESH:D003074 SNOMEDCT_US_2016_03_01:158600006 SNOMEDCT_US_2016_03_01:207405001 SNOMEDCT_US_2016_03_01:308689002 UMLS_CUI:C0009250 Coin lesion lung Coin lesion of lung Coin lesion of lung (context-dependent category) Coin lesion of lung (finding) disease_ontology DOID:5364 pulmonary coin lesion Coin lesion lung MTHICD9_2006:793.1 Coin lesion of lung SNOMEDCT_2005_07_31:158600006 Coin lesion of lung (context-dependent category) SNOMEDCT_2005_07_31:207405001 Coin lesion of lung (finding) SNOMEDCT_2005_07_31:308689002 NCI:C40254 UMLS_CUI:C1516419 disease_ontology DOID:5368 Wolffian duct adenocarcinoma A viral infectious disease that results_in inflammation located_in lungs, has_material_basis_in Ovine progressive pneumonia virus, which is transmitted_by droplet spread of oronasal secretion, and transmitted_by ingestion of contaminated milk or colostrum. The infection has_symptom coughing, has_symptom bronchial exudate, has_symptom depression, and has_symptom fever. progressive interstitial pneumonia of sheep progressive pneumonia of sheep (disorder) disease_ontology DOID:5369 ovine progressive interstitial pneumonia true A viral infectious disease that results_in inflammation located_in lungs, has_material_basis_in Ovine progressive pneumonia virus, which is transmitted_by droplet spread of oronasal secretion, and transmitted_by ingestion of contaminated milk or colostrum. The infection has_symptom coughing, has_symptom bronchial exudate, has_symptom depression, and has_symptom fever. url:http://www.merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/121505.htm progressive pneumonia of sheep (disorder) SNOMEDCT_2005_07_31:48722001 A hemangiopericytoma that is manifested in the breast. NCI:C40396 UMLS_CUI:C1511313 disease_ontology DOID:5370 breast hemangiopericytoma A hemangiopericytoma that is manifested in the breast. url:http://www.jaoa.org/cgi/content/abstract/91/6/606 NCI:C5386 UMLS_CUI:C1335777 disease_ontology DOID:5373 retroperitoneal hemangiopericytoma DOID:5377 MESH:D018296 NCI:C7368 OMIM:132600 SNOMEDCT_US_2016_03_01:274901004 SNOMEDCT_US_2016_03_01:44155009 UMLS_CUI:C0206711 Pilomatricoma benign pilomatricoma disease_ontology DOID:5374 OMIM mapping confirmed by DO. [SN]. pilomatrixoma Pilomatricoma NCI2004_11_17:C7368 NCI:C7367 SNOMEDCT_US_2016_03_01:44155009 UMLS_CUI:C0859920 Hair Matrix neoplasm Hair matrix tumour disease_ontology DOID:5375 hair follicle neoplasm Hair Matrix neoplasm NCI2004_11_17:C7367 Hair matrix tumour SNOMEDCT_2005_07_31:44155009 NCI:C4114 SNOMEDCT_US_2016_03_01:24762001 SNOMEDCT_US_2016_03_01:307610008 UMLS_CUI:C0585475 Pilomatricoma, malignant Pilomatrix carcinoma of skin (disorder) malignant Pilomatricoma disease_ontology pilomatrix carcinoma of skin DOID:5376 skin pilomatrix carcinoma Pilomatricoma, malignant SNOMEDCT_2005_07_31:24762001 Pilomatrix carcinoma of skin (disorder) SNOMEDCT_2005_07_31:307610008 malignant Pilomatricoma NCI2004_11_17:C4114 ICD10CM:D58.2 NCI:C35344 SNOMEDCT_US_2016_03_01:66729008 UMLS_CUI:C0272080 Hb-D disease Hemoglobin D disease Hemoglobin D disease (disorder) disease_ontology DOID:5378 hemoglobin D disease Hb-D disease MTHICD9_2006:282.7 Hemoglobin D disease NCI2004_11_17:C35344 Hemoglobin D disease (disorder) SNOMEDCT_2005_07_31:66729008 ICD10CM:D58.2 NCI:C35287 SNOMEDCT_US_2016_03_01:25065001 UMLS_CUI:C0238159 Hb-E disease Hemoglobin E disease Hemoglobin E disease (disorder) disease_ontology DOID:5379 hemoglobin E disease Hb-E disease MTHICD9_2006:282.7 Hemoglobin E disease NCI2004_11_17:C35287 Hemoglobin E disease (disorder) SNOMEDCT_2005_07_31:25065001 ICD10CM:H51.2 ICD9CM:378.86 MESH:D015835 SNOMEDCT_US_2016_03_01:49823009 UMLS_CUI:C0152134 disease_ontology DOID:538 internuclear ophthalmoplegia Lupus - tuberculous Lupus exedens Lupus vulgaris Lupus vulgaris (disorder) Tuberculosis - lupus NOS (disorder) lupus tuberculosis disease_ontology DOID:5380 lupus vulgaris true Lupus - tuberculous SNOMEDCT_2005_07_31:186248003 Lupus exedens MTHICD9_2006:017.0 Lupus vulgaris SNOMEDCT_2005_07_31:154290000 Lupus vulgaris SNOMEDCT_2005_07_31:186249006 Lupus vulgaris (disorder) SNOMEDCT_2005_07_31:10528009 Tuberculosis - lupus NOS (disorder) SNOMEDCT_2005_07_31:186251005 lupus tuberculosis CSP2005:0729-7721 An adenoma and biliary tract cancer that results_in a small firm white nodule with multiple bile ducts that are located_in a fibrous stroma. MESH:D002759 NCI:C2942 SNOMEDCT_US_2016_03_01:189591008 SNOMEDCT_US_2016_03_01:39471001 SNOMEDCT_US_2016_03_01:424091006 UMLS_CUI:C0008309 Cholangioadenoma bile duct adenoma (morphologic abnormality) disease_ontology DOID:5381 bile duct adenoma An adenoma and biliary tract cancer that results_in a small firm white nodule with multiple bile ducts that are located_in a fibrous stroma. url:http://www.mercksource.com/pp/us/cns/cns_hl_dorlands_split.jsp?pg=/ppdocs/us/common/dorlands/dorland/one/000001598.htm Cholangioadenoma NCI2004_11_17:C2942 bile duct adenoma (morphologic abnormality) SNOMEDCT_2005_07_31:189591008 bile duct adenoma (morphologic abnormality) SNOMEDCT_2005_07_31:39471001 NCI:C40299 UMLS_CUI:C1511048 Bartholin gland adenoma disease_ontology DOID:5382 Bartholin's gland adenoma NCI:C4129 SNOMEDCT_US_2016_03_01:83025009 UMLS_CUI:C0334285 Cystadenoma of the bile duct bile duct cystadenoma (morphologic abnormality) disease_ontology DOID:5384 bile duct cystadenoma Cystadenoma of the bile duct NCI2004_11_17:C4129 bile duct cystadenoma (morphologic abnormality) SNOMEDCT_2005_07_31:83025009 NCI:C4157 SNOMEDCT_US_2016_03_01:89773001 UMLS_CUI:C0334323 disease_ontology DOID:5385 mixed cell adenoma NCI:C4455 SNOMEDCT_US_2016_03_01:254642004 UMLS_CUI:C0345964 adenoma of lung pulmonary adenoma disease_ontology DOID:5386 lung adenoma adenoma of lung SNOMEDCT_2005_07_31:254642004 pulmonary adenoma NCI2004_11_17:C4455 NCI:C6834 UMLS_CUI:C1334759 adenoma of the middle ear disease_ontology adenoma of middle ear DOID:5387 middle ear adenoma adenoma of the middle ear NCI2004_11_17:C6834 MESH:D018249 NCI:C3759 SNOMEDCT_US_2016_03_01:89439007 UMLS_CUI:C1510502 Follicular adenoma, oxyphilic cell Oncocytoma disease_ontology DOID:5389 oxyphilic adenoma Follicular adenoma, oxyphilic cell SNOMEDCT_2005_07_31:89439007 Oncocytoma NCI2004_11_17:C3759 DOID:10868 ICD9CM:378.56 MESH:D009886 NCI:C79697 SNOMEDCT_US_2016_03_01:155196009 SNOMEDCT_US_2016_03_01:16110005 SNOMEDCT_US_2016_03_01:267745004 SNOMEDCT_US_2016_03_01:78097002 UMLS_CUI:C0029089 UMLS_CUI:C0155338 Total ophthalmoplegia oculomotor paralysis disease_ontology DOID:539 ophthalmoplegia oculomotor paralysis CSP2005:1115-2778 An adenoma that is composed_of cells with a clear cytoplasm located_in ovary. NCI:C4151 SNOMEDCT_US_2016_03_01:1752006 UMLS_CUI:C0334315 Clear cell adenoma (morphologic abnormality) disease_ontology DOID:5390 clear cell adenoma An adenoma that is composed_of cells with a clear cytoplasm located_in ovary. url:http://www.pathconsultddx.com/pathCon/diagnosis?pii=S1559-8675%2806%2970166-8 Clear cell adenoma (morphologic abnormality) SNOMEDCT_2005_07_31:1752006 NCI:C3494 SNOMEDCT_US_2016_03_01:189617001 SNOMEDCT_US_2016_03_01:24482001 UMLS_CUI:C0149845 Bronchial adenoma Bronchial adenoma NOS (morphologic abnormality) Bronchial adenoma, NOS disease_ontology adenoma of the bronchus DOID:5391 bronchus adenoma Bronchial adenoma NCI2004_11_17:C3494 Bronchial adenoma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189617001 Bronchial adenoma, NOS SNOMEDCT_2005_07_31:24482001 MESH:D000239 NCI:C6780 SNOMEDCT_US_2016_03_01:21109002 UMLS_CUI:C0001433 Eosinophil adenoma disease_ontology DOID:5392 acidophil adenoma Eosinophil adenoma NCI2004_11_17:C6780 NCI:C7739 UMLS_CUI:C0238814 disease_ontology DOID:5393 brain angioma MESH:D015175 NCI:C3342 OMIM:600634 SNOMEDCT_US_2016_03_01:134209002 SNOMEDCT_US_2016_03_01:34337008 SNOMEDCT_US_2016_03_01:367098005 UMLS_CUI:C0033375 PITUITARY ADENOMA, PROLACTIN-SECRETING Prolactinoma of Pituitary gland familial prolactinoma disease_ontology DOID:5394 OMIM mapping confirmed by DO. [SN]. prolactinoma Prolactinoma of Pituitary gland NCI2004_11_17:C3342 NCI:C8388 UMLS_CUI:C0854486 Secretory adenoma of the Pituitary gland disease_ontology DOID:5395 functioning pituitary adenoma Secretory adenoma of the Pituitary gland NCI2004_11_17:C8388 A pituitary carcinoma that is located_in the anterior lobe of the pituitary gland that produces prolactin. DOID:6272 NCI:C5962 NCI:C7910 UMLS_CUI:C0278863 UMLS_CUI:C1334614 Prolactin Secreting tumor of Pituitary Prolactin-Producing Pituitary Gland Carcinoma malignant Prolactinoma malignant prolactin producing neoplasm of pituitary gland disease_ontology DOID:5396 prolactin producing pituitary tumor A pituitary carcinoma that is located_in the anterior lobe of the pituitary gland that produces prolactin. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.08e&ns=NCI_Thesaurus&code=C7910 Prolactin Secreting tumor of Pituitary NCI2004_11_17:C7910 malignant Prolactinoma NCI2004_11_17:C5962 disease_ontology DOID:5397 ductal adenoma true An adenoma that is composed_of adipose tissue. NCI:C4159 SNOMEDCT_US_2016_03_01:22024005 UMLS_CUI:C0334325 Lipoadenoma (morphologic abnormality) disease_ontology DOID:5398 lipoadenoma An adenoma that is composed_of adipose tissue. url:http://en.wiktionary.org/wiki/lipoadenoma Lipoadenoma (morphologic abnormality) SNOMEDCT_2005_07_31:22024005 A viral infectious disease that results_in bronchioloalveolar carcinoma in ovine, located_in lung, has_material_basis_in Jaagsiekte sheep retrovirus, characterized by proliferation of the pulmonary alveolar epithelium and occlusion of the alveoli and terminal bronchioles, presenting as a collection of benign growths of grandular origin. DOID:3802 Jaagziekte (disorder) ovine pulmonary adenomatosis pulmonary adenomatosis pulmonary adenomatosis (morphologic abnormality) disease_ontology Tumor Virus Infections DOID:5399 ovine pulmonary adenomatosis true A viral infectious disease that results_in bronchioloalveolar carcinoma in ovine, located_in lung, has_material_basis_in Jaagsiekte sheep retrovirus, characterized by proliferation of the pulmonary alveolar epithelium and occlusion of the alveoli and terminal bronchioles, presenting as a collection of benign growths of grandular origin. url:http://www.cfsph.iastate.edu/Factsheets/pdfs/ovine_pulmonary_adenomatosis.pdf Jaagziekte (disorder) SNOMEDCT_2005_07_31:7238003 pulmonary adenomatosis NCI2004_11_17:C3763 pulmonary adenomatosis (morphologic abnormality) SNOMEDCT_2005_07_31:32434004 ICD10CM:H50.8 ICD10CM:H50.89 ICD9CM:378.7 SNOMEDCT_US_2016_03_01:194125000 SNOMEDCT_US_2016_03_01:194128003 SNOMEDCT_US_2016_03_01:194651002 UMLS_CUI:C0029831 disease_ontology DOID:540 strabismus Trabecular adenoma Trabecular adenoma (morphologic abnormality) disease_ontology DOID:5400 trabecular adenoma true Trabecular adenoma NCI2004_11_17:C3688 Trabecular adenoma (morphologic abnormality) SNOMEDCT_2005_07_31:21930005 An adenoma that derives_from epithelial cells which have clear cytoplasm. NCI:C4155 SNOMEDCT_US_2016_03_01:26638004 UMLS_CUI:C0334321 Water-clear cell adenoma (morphologic abnormality) disease_ontology DOID:5401 water-clear cell adenoma An adenoma that derives_from epithelial cells which have clear cytoplasm. url:http://www.pathconsultddx.com/pathCon/diagnosis?pii=S1559-8675%2806%2970166-8 Water-clear cell adenoma (morphologic abnormality) SNOMEDCT_2005_07_31:26638004 NCI:C40256 UMLS_CUI:C1519913 disease_ontology DOID:5402 vaginal adenoma MESH:D000236 NCI:C3685 SNOMEDCT_US_2016_03_01:189580001 SNOMEDCT_US_2016_03_01:79494009 UMLS_CUI:C0205648 Microcystic adenoma Microcystic adenoma (morphologic abnormality) disease_ontology DOID:5403 microcystic adenoma Microcystic adenoma NCI2004_11_17:C3685 Microcystic adenoma SNOMEDCT_2005_07_31:189580001 Microcystic adenoma (morphologic abnormality) SNOMEDCT_2005_07_31:79494009 Atypical adenoma (morphologic abnormality) disease_ontology DOID:5404 atypical adenoma true Atypical adenoma (morphologic abnormality) SNOMEDCT_2005_07_31:24482001 A bone formation disease that has_material_basis_in hyperactive osteoclast which results_in abnormal osteoblast bone formation located_in skull, located_in pelvis, located_in vertebral column, located_in set of limbs. EFO:0004261 ICD10CM:M88 MESH:D010001 NCI:C3292 OMIM:167250 OMIM:602080 OMIM:606263 ORDO:280110 SNOMEDCT_US_2016_03_01:156811005 SNOMEDCT_US_2016_03_01:156812003 SNOMEDCT_US_2016_03_01:203353000 SNOMEDCT_US_2016_03_01:203354006 SNOMEDCT_US_2016_03_01:2089002 UMLS_CUI:C0029401 Paget disease of bone Paget's bone disease osseous Paget's disease osteitis deformans disease_ontology Familial Paget's disease of bone DOID:5408 Xref MGI. MESH:C538098 added from NeuroDevNet [WAK]. Paget's disease of bone A bone formation disease that has_material_basis_in hyperactive osteoclast which results_in abnormal osteoblast bone formation located_in skull, located_in pelvis, located_in vertebral column, located_in set of limbs. url:http://en.wikipedia.org/wiki/Paget%27s_disease_of_bone url:http://orthoinfo.aaos.org/topic.cfm?topic=A00076 url:http://www.mayoclinic.com/health/pagets-disease-of-bone/DS00485 url:http://www.nlm.nih.gov/medlineplus/pagetsdiseaseofbone.html Paget's bone disease MTH:547 osseous Paget's disease NCI2004_11_17:C3292 Familial Paget's disease of bone MESH:C538098 A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells. KEGG:05222 MESH:D055752 NCI:C4917 OMIM:182280 SNOMEDCT_US_2016_03_01:254632001 SNOMEDCT_US_2016_03_01:254633006 UMLS_CUI:C0149925 Oat cell carcinoma of lung (disorder) SCLC small cell carcinoma of lung (disorder) small cell neuroendocrine carcinoma of lung disease_ontology small cell carcinoma of lung DOID:5409 OMIM mapping confirmed by DO. [SN]. lung small cell carcinoma A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells. url:http://en.wikipedia.org/wiki/Small-cell_carcinoma Oat cell carcinoma of lung (disorder) SNOMEDCT_2005_07_31:254633006 SCLC CSP2005:2017-6589 small cell carcinoma of lung (disorder) SNOMEDCT_2005_07_31:254632001 small cell neuroendocrine carcinoma of lung NCI2004_11_17:C4917 disease_ontology DOID:541 convergence insufficiency or palsy true NCI:C5670 SNOMEDCT_US_2016_03_01:707594002 UMLS_CUI:C1334452 disease_ontology DOID:5410 pulmonary neuroendocrine tumor MESH:D018288 NCI:C3915 SNOMEDCT_US_2016_03_01:189555001 SNOMEDCT_US_2016_03_01:74364000 SNOMEDCT_US_2016_03_01:76817009 UMLS_CUI:C0262584 Oat cell carcinoma (morphologic abnormality) oat cell carcinoma poorly differentiated Endocrine neoplasm disease_ontology DOID:5411 lung oat cell carcinoma Oat cell carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:76817009 oat cell carcinoma CSP2005:2017-6589 poorly differentiated Endocrine neoplasm NCI2004_11_17:C3915 NCI:C6683 UMLS_CUI:C1335099 Occult small cell carcinoma of the lung disease_ontology occult small cell carcinoma of lung DOID:5414 lung occult small cell carcinoma Occult small cell carcinoma of the lung NCI2004_11_17:C6683 relapsed small cell carcinoma of the lung disease_ontology DOID:5416 recurrent small cell lung cancer true relapsed small cell carcinoma of the lung NCI2004_11_17:C9050 A psychotic disorder that is characterized by recurring episodes of mood fluctuations and a loss of contact with reality. ICD10CM:F25 ICD10CM:F25.9 ICD9CM:295.7 MESH:D011618 NCI:C94378 SNOMEDCT_US_2016_03_01:191567000 SNOMEDCT_US_2016_03_01:191568005 SNOMEDCT_US_2016_03_01:191575006 SNOMEDCT_US_2016_03_01:192345003 SNOMEDCT_US_2016_03_01:231490005 SNOMEDCT_US_2016_03_01:68890003 UMLS_CUI:C0036337 disease_ontology DOID:5418 schizoaffective disorder A psychotic disorder that is characterized by recurring episodes of mood fluctuations and a loss of contact with reality. url:http://en.wikipedia.org/wiki/Schizoaffective_disorder url:http://www.nlm.nih.gov/medlineplus/ency/article/000930.htm A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness. DOID:14734 EFO:0000692 HP:0100753 ICD9CM:295.8 ICD9CM:295.80 MESH:D012559 OMIM:181500 OMIM:181510 OMIM:600511 OMIM:600850 OMIM:603013 OMIM:603175 OMIM:603176 OMIM:603206 OMIM:603342 OMIM:604906 OMIM:605419 OMIM:608078 OMIM:608543 OMIM:612361 OMIM:613025 OMIM:613950 OMIM:613959 OMIM:615232 UMLS_CUI:C0029838 UMLS_CUI:C0220702 schizophrenia-1 disease_ontology DOID:5419 Xref MGI. OMIM mapping confirmed by DO. [SN]. schizophrenia A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness. url:http://en.wikipedia.org/wiki/Schizophrenia A lung small cell carcinoma that is characterized as a multiphasic lung cancer comprised of a mixture of small cell and non-small cell lung carcinoma cells. NCI:C9137 UMLS_CUI:C1333125 Combined small cell carcinoma of the lung disease_ontology combined type small cell carcinoma of lung DOID:5421 lung combined type small cell carcinoma A lung small cell carcinoma that is characterized as a multiphasic lung cancer comprised of a mixture of small cell and non-small cell lung carcinoma cells. url:http://en.wikipedia.org/wiki/Combined_small-cell_lung_carcinoma Combined small cell carcinoma of the lung NCI2004_11_17:C9137 Combined carcinoma of the lung disease_ontology DOID:5422 combined carcinoma of lung true Combined carcinoma of the lung NCI2004_11_17:C7591 Hemangioblastoma of the CNS disease_ontology DOID:5423 central nervous system hemangioblastoma true Hemangioblastoma of the CNS NCI2004_11_17:C7007 MESH:D016471 OMIM:608115 SNOMEDCT_US_2016_03_01:129635004 UMLS_CUI:C0085083 secondary Meig's syndrome disease_ontology DOID:5425 OMIM mapping confirmed by DO. [SN]. ovarian hyperstimulation syndrome secondary Meig's syndrome SNOMEDCT_2005_07_31:129635004 An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40. ICD10CM:E28.3 MESH:D016649 NCI:C113352 OMIM:300510 OMIM:300511 OMIM:300604 OMIM:311360 OMIM:608996 OMIM:611548 OMIM:612310 OMIM:612964 OMIM:615723 OMIM:615724 ORDO:619 SNOMEDCT_US_2016_03_01:190545008 SNOMEDCT_US_2016_03_01:237788002 SNOMEDCT_US_2016_03_01:39381003 SNOMEDCT_US_2016_03_01:65846009 UMLS_CUI:C0085215 hypergonadotropic hypogonadism premature menopause premature ovarian insufficiency primary ovarian insufficiency disease_ontology DOID:5426 Xref MGI. OMIM mapping confirmed by DO. [SN]. premature ovarian failure An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40. url:http://en.wikipedia.org/wiki/Premature_ovarian_failure url:http://www.merckmanuals.com/professional/gynecology_and_obstetrics/menstrual_abnormalities/premature_ovarian_insufficiency_or_failure.html NCI:C7414 UMLS_CUI:C1336893 villous adenoma of urinary bladder disease_ontology DOID:5427 urinary bladder villous adenoma villous adenoma of urinary bladder NCI2004_11_17:C7414 NCI:C37266 UMLS_CUI:C1332559 Flat Intraepithelial Lesion of the urinary bladder disease_ontology DOID:5429 bladder flat intraepithelial lesion Flat Intraepithelial Lesion of the urinary bladder NCI2004_11_17:C37266 DOID:544 ICD10CM:G24 ICD10CM:G24.9 MESH:D004421 MESH:D020821 NCI:C34563 SNOMEDCT_US_2016_03_01:15802004 SNOMEDCT_US_2016_03_01:192863009 SNOMEDCT_US_2016_03_01:194478005 SNOMEDCT_US_2016_03_01:250068003 UMLS_CUI:C0013421 UMLS_CUI:C0393593 dystonic disease disease_ontology DOID:543 dystonia disease_ontology DOID:5430 intraurothelial neoplasia true NCI:C39857 UMLS_CUI:C1511197 urinary bladder Papillary Urothelial neoplasm disease_ontology DOID:5432 bladder papillary transitional cell neoplasm urinary bladder Papillary Urothelial neoplasm NCI2004_11_17:C39857 DOID:6120 NCI:C27883 NCI:C6192 UMLS_CUI:C1334282 UMLS_CUI:C1335329 Inverted papilloma of urinary tract Papillary transitional cell neoplasm of the urinary tract urinary tract inverted papilloma disease_ontology DOID:5433 urinary tract papillary transitional cell benign neoplasm Inverted papilloma of urinary tract NCI2004_11_17:C6192 Papillary transitional cell neoplasm of the urinary tract NCI2004_11_17:C27883 MESH:D012608 SNOMEDCT_US_2016_03_01:35103004 UMLS_CUI:C0036457 disease_ontology DOID:5434 scrapie MESH:D016643 SNOMEDCT_US_2016_03_01:52869003 UMLS_CUI:C0085209 Bovine spongiform encephalopathy (disorder) bovine spongiform encephalopathy disease_ontology DOID:5435 variant Creutzfeldt-Jakob disease Bovine spongiform encephalopathy (disorder) SNOMEDCT_2005_07_31:52869003 NCI:C7126 UMLS_CUI:C1331535 adenoma of the Intrahepatic bile duct disease_ontology adenoma of intrahepatic bile duct DOID:5437 intrahepatic bile duct adenoma adenoma of the Intrahepatic bile duct NCI2004_11_17:C7126 A bile duct ademona and neoplasm of extrahepatic bile duct that are composed_of papillary, tubular, or combined tubulopapillary structures lined by dysplastic epithelium. NCI:C5857 UMLS_CUI:C1331534 adenoma of the extrahepatic bile duct disease_ontology adenoma of extrahepatic bile duct DOID:5438 extrahepatic bile duct adenoma A bile duct ademona and neoplasm of extrahepatic bile duct that are composed_of papillary, tubular, or combined tubulopapillary structures lined by dysplastic epithelium. url:http://www.joplink.net/prev/200803/08.html adenoma of the extrahepatic bile duct NCI2004_11_17:C5857 NCI:C4171 SNOMEDCT_US_2016_03_01:134157002 SNOMEDCT_US_2016_03_01:307597000 SNOMEDCT_US_2016_03_01:89791006 UMLS_CUI:C0334348 disease_ontology DOID:5439 papillary hidradenoma MESH:D018250 NCI:C7568 SNOMEDCT_US_2016_03_01:253020008 SNOMEDCT_US_2016_03_01:254719003 SNOMEDCT_US_2016_03_01:400099008 SNOMEDCT_US_2016_03_01:81143000 SNOMEDCT_US_2016_03_01:81393009 UMLS_CUI:C0206671 Eccrine acrospiroma Eccrine hidradenoma (disorder) Eccrine hidradenoma of skin Poroma (Acrospiroma) disease_ontology DOID:5442 eccrine acrospiroma Eccrine acrospiroma SNOMEDCT_2005_07_31:81143000 Eccrine hidradenoma (disorder) SNOMEDCT_2005_07_31:254719003 Eccrine hidradenoma of skin SNOMEDCT_2005_07_31:400099008 Poroma (Acrospiroma) NCI2004_11_17:C27273 NCI:C7567 SNOMEDCT_US_2016_03_01:254719003 SNOMEDCT_US_2016_03_01:400099008 SNOMEDCT_US_2016_03_01:81143000 UMLS_CUI:C1370701 Clear cell Hidradenoma Clear cell hidradenoma (morphologic abnormality) Clear cell myoepithelioma disease_ontology DOID:5443 clear cell hidradenoma Clear cell Hidradenoma NCI2004_11_17:C7567 Clear cell hidradenoma (morphologic abnormality) SNOMEDCT_2005_07_31:81143000 Clear cell myoepithelioma SNOMEDCT_2005_07_31:254719003 Clear cell myoepithelioma SNOMEDCT_2005_07_31:400099008 DOID:1617 NCI:C4170 SNOMEDCT_US_2016_03_01:403938001 SNOMEDCT_US_2016_03_01:4977000 UMLS_CUI:C0334347 Eccrine spiradenoma (morphologic abnormality) Eccrine spiradenoma of skin benign eccrine spiradenoma disease_ontology DOID:5444 spiradenoma Eccrine spiradenoma (morphologic abnormality) SNOMEDCT_2005_07_31:4977000 Eccrine spiradenoma of skin SNOMEDCT_2005_07_31:403938001 NCI:C4172 SNOMEDCT_US_2016_03_01:239121009 SNOMEDCT_US_2016_03_01:8934006 UMLS_CUI:C0406803 Papillary Syringadenoma (Syringocystadenoma Papilliferum) Papillary syringadenoma (morphologic abnormality) Syringocystadenoma papilliferum (disorder) disease_ontology DOID:5445 syringocystadenoma papilliferum Papillary Syringadenoma (Syringocystadenoma Papilliferum) NCI2004_11_17:C4172 Papillary syringadenoma (morphologic abnormality) SNOMEDCT_2005_07_31:8934006 Syringocystadenoma papilliferum (disorder) SNOMEDCT_2005_07_31:239121009 NCI:C4173 SNOMEDCT_US_2016_03_01:10060008 SNOMEDCT_US_2016_03_01:134345002 SNOMEDCT_US_2016_03_01:189674003 SNOMEDCT_US_2016_03_01:253021007 UMLS_CUI:C0334350 Eccrine papillary adenoma (morphologic abnormality) Eccrine papillary adenoma (morphologic abnormality) Eccrine papillary adenoma morphology (morphologic abnormality) Eccrine papillary adenoma of skin (disorder) disease_ontology DOID:5446 eccrine papillary adenoma Eccrine papillary adenoma (morphologic abnormality) SNOMEDCT_2005_07_31:189674003 Eccrine papillary adenoma (morphologic abnormality) SNOMEDCT_2005_07_31:10060008 Eccrine papillary adenoma morphology (morphologic abnormality) SNOMEDCT_2005_07_31:134345002 Eccrine papillary adenoma of skin (disorder) SNOMEDCT_2005_07_31:253021007 MESH:D011668 NCI:C85039 OMIM:265450 SNOMEDCT_US_2016_03_01:89420002 UMLS_CUI:C0034091 pulmonary veno-occlusive disease (disorder) disease_ontology DOID:5453 OMIM mapping confirmed by DO. [SN]. pulmonary venoocclusive disease pulmonary veno-occlusive disease (disorder) SNOMEDCT_2005_07_31:89420002 disease_ontology DOID:5455 pulmonary vascular disorder true disease_ontology DOID:5456 spinal vascular disorder true NCI:C6023 SNOMEDCT_US_2016_03_01:707625001 UMLS_CUI:C1334374 neuroendocrine tumor of Larynx disease_ontology DOID:5457 laryngeal neuroendocrine tumor neuroendocrine tumor of Larynx NCI2004_11_17:C6023 A mycoplasmal pneumonia that is a highly contagious infection usually associated with pleurisy of cattle, goats, and sheep, which is caused by bacteria of the genus Mycoplasma (especially M. mycoides). disease_ontology DOID:5460 contagious pleuropneumonia true A mycoplasmal pneumonia that is a highly contagious infection usually associated with pleurisy of cattle, goats, and sheep, which is caused by bacteria of the genus Mycoplasma (especially M. mycoides). url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=pleuropneumonia Eaton's agent infection (disorder) Mycoplasma infection (disorder) Mycoplasma infection with Eaton's agent Mycoplasma infection, unspecified (disorder) Mycoplasmosis (disorder) disease caused by Mycoplasma [Ambiguous] disease caused by Mycoplasma, NOS disease_ontology DOID:5461 primary Mycoplasma infectious disease true Eaton's agent infection (disorder) SNOMEDCT_2005_07_31:186462007 Mycoplasma infection (disorder) SNOMEDCT_2005_07_31:186464008 Mycoplasma infection with Eaton's agent MTHICD9_2006:041.81 Mycoplasma infection, unspecified (disorder) SNOMEDCT_2005_07_31:187345008 Mycoplasmosis (disorder) SNOMEDCT_2005_07_31:174536008 disease caused by Mycoplasma [Ambiguous] SNOMEDCT_2005_07_31:59846002 disease caused by Mycoplasma, NOS SNOMEDCT_2005_07_31:367480000 A viral infectious disease that results_in infection in pigs, has_material_basis_in African swine fever virus, which is transmitted_by contact with sick animals or transmitted_by ingestion of contaminated food containing infected meat, or transmitted_by ticks of the genus Ornithodoros. The infection has_symptom fever, has_symptom reddening of the skin, has_symptom leukopenia, and has_symptom thrombocytopenia. African swine fever African swine fever (disorder) disease_ontology swine hemorrhagic fever DOID:5462 African swine fever true A viral infectious disease that results_in infection in pigs, has_material_basis_in African swine fever virus, which is transmitted_by contact with sick animals or transmitted_by ingestion of contaminated food containing infected meat, or transmitted_by ticks of the genus Ornithodoros. The infection has_symptom fever, has_symptom reddening of the skin, has_symptom leukopenia, and has_symptom thrombocytopenia. url:http://en.wikipedia.org/wiki/African_swine_fever url:http://www.oie.int/eng/maladies/fiches/a_A120.htm African swine fever MTH:NOCODE African swine fever (disorder) SNOMEDCT_2005_07_31:31713007 MESH:D015834 UMLS_CUI:C0009197 disease_ontology DOID:5463 cochlear disease A pre-malignant neoplasm that is characterized by abnormal growth of dysplastic squamous epithelial cells on the surface of the eye that arises from the conjunctiva that is restricted within the epithelium. NCI:C6120 SNOMEDCT_US_2016_03_01:418134006 UMLS_CUI:C1333148 Intraepithelial Neoplasia of Conjunctiva disease_ontology DOID:5465 conjunctival intraepithelial neoplasm A pre-malignant neoplasm that is characterized by abnormal growth of dysplastic squamous epithelial cells on the surface of the eye that arises from the conjunctiva that is restricted within the epithelium. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1772848/ url:https://www.ncbi.nlm.nih.gov/pubmed/27584160 Intraepithelial Neoplasia of Conjunctiva NCI2004_11_17:C6120 DOID:1750 ICD10CM:C69.0 ICD9CM:190.3 MESH:D003230 NCI:C2961 NCI:C3564 SNOMEDCT_US_2016_03_01:126996004 SNOMEDCT_US_2016_03_01:363463000 SNOMEDCT_US_2016_03_01:93764002 UMLS_CUI:C0009761 UMLS_CUI:C0153628 Conjunctival tumor malignant Conjunctival tumor malignant neoplasm of conjunctiva malignant neoplasm of conjunctiva (primary) malignant tumor of conjunctiva (disorder) neoplasm of conjunctiva disease_ontology DOID:5467 conjunctival cancer Conjunctival tumor NCI2004_11_17:C2961 malignant Conjunctival tumor NCI2004_11_17:C3564 malignant neoplasm of conjunctiva (primary) SNOMEDCT_2005_07_31:93764002 malignant tumor of conjunctiva (disorder) SNOMEDCT_2005_07_31:363463000 neoplasm of conjunctiva SNOMEDCT_2005_07_31:126996004 A biliary tract neoplasm characterized by multiple papillary tumors in the intrahepatic and/or extrahepatic biliary tree. NCI:C65198 SNOMEDCT_US_2016_03_01:128663007 UMLS_CUI:C1266038 bile duct papillomatosis disease_ontology DOID:5468 biliary papillomatosis A biliary tract neoplasm characterized by multiple papillary tumors in the intrahepatic and/or extrahepatic biliary tree. url:http://www.ncbi.nlm.nih.gov/pubmed/21988050 bile duct papillomatosis NCI2004_11_17:C6881 NCI:C37215 disease_ontology DOID:5469 biliary tract intraductal papillary mucinous neoplasm disease_ontology DOID:5472 tumor of the thecoma fibroma group true NCI:C40031 UMLS_CUI:C1518729 disease_ontology DOID:5474 ovarian serous adenofibroma NCI:C6337 UMLS_CUI:C1336901 adenofibroma of Corpus Uteri disease_ontology adenofibroma of uterine corpus DOID:5475 uterine corpus adenofibroma adenofibroma of Corpus Uteri NCI2004_11_17:C6337 NCI:C40230 UMLS_CUI:C1516402 disease_ontology DOID:5476 cervical adenofibroma MESH:D062625 NCI:C8985 NCI:C8987 SNOMEDCT_US_2016_03_01:2962009 SNOMEDCT_US_2016_03_01:58161009 UMLS_CUI:C0334317 Clear cell adenofibroma Clear cell adenofibroma (morphologic abnormality) disease_ontology DOID:5477 clear cell adenofibroma Clear cell adenofibroma NCI2004_11_17:C8987 Clear cell adenofibroma (morphologic abnormality) SNOMEDCT_2005_07_31:58161009 NCI:C40113 UMLS_CUI:C1517109 disease_ontology DOID:5478 fallopian tube adenofibroma NCI:C8986 SNOMEDCT_US_2016_03_01:2962009 UMLS_CUI:C1377850 Papillary adenofibroma disease_ontology DOID:5479 papillary adenofibroma Papillary adenofibroma SNOMEDCT_2005_07_31:2962009 malignant hypertensive heart disease (disorder) malignant hypertensive heart disease NOS (disorder) disease_ontology DOID:548 malignant hypertensive heart disease true malignant hypertensive heart disease (disorder) SNOMEDCT_2005_07_31:54225002 malignant hypertensive heart disease NOS (disorder) SNOMEDCT_2005_07_31:194764008 NCI:C27287 disease_ontology DOID:5480 ovarian endometrioid adenofibroma An adenofibroma that is composed_of epithelial ovarian tissue. MESH:D062625 NCI:C8985 NCI:C8987 SNOMEDCT_US_2016_03_01:2962009 SNOMEDCT_US_2016_03_01:58161009 UMLS_CUI:C0334317 Cystadenofibroma, NOS disease_ontology DOID:5482 cystadenofibroma An adenofibroma that is composed_of epithelial ovarian tissue. url:http://www.ajronline.org/cgi/content/full/182/5/1259 Cystadenofibroma, NOS SNOMEDCT_2005_07_31:2962009 NCI:C6533 UMLS_CUI:C1333616 fibrous sarcoma of Synovium disease_ontology DOID:5484 fibrous synovial sarcoma fibrous sarcoma of Synovium NCI2004_11_17:C6533 A synovium cancer which develops in the synovial membrane of the joints. MESH:D013584 NCI:C3400 OMIM:300813 SNOMEDCT_US_2016_03_01:302851001 SNOMEDCT_US_2016_03_01:63211008 UMLS_CUI:C0039101 disease_ontology DOID:5485 Xref MGI. synovial sarcoma A synovium cancer which develops in the synovial membrane of the joints. url:http://en.wikipedia.org/wiki/Synovial_sarcoma url:http://www.cancer.gov/dictionary?cdrid=44626 disease_ontology DOID:5486 metastatic synovial sarcoma true NCI:C4277 SNOMEDCT_US_2016_03_01:37206003 UMLS_CUI:C0334505 Synovial sarcoma with spindle cell Components Synovial sarcoma, monophasic fibrous disease_ontology DOID:5487 spindle cell synovial sarcoma Synovial sarcoma with spindle cell Components NCI2004_11_17:C4277 Synovial sarcoma, monophasic fibrous SNOMEDCT_2005_07_31:37206003 A sarcoma of the mediastinum and synovial sarcoma that is located_in the mediastinum. NCI:C6618 UMLS_CUI:C1334681 Synovial sarcoma of mediastinum disease_ontology DOID:5488 mediastinum synovial sarcoma A sarcoma of the mediastinum and synovial sarcoma that is located_in the mediastinum. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2001131/ Synovial sarcoma of mediastinum NCI2004_11_17:C6618 An adult sarcoma of soft tissue and synovial sarcoma that affects non-epithelial, extraskeletal tissue of the body, including the muscle, fat, fibrous tissue, vessels and peripheral nervous system. disease_ontology DOID:5489 adult synovial sarcoma true An adult sarcoma of soft tissue and synovial sarcoma that affects non-epithelial, extraskeletal tissue of the body, including the muscle, fat, fibrous tissue, vessels and peripheral nervous system. url:http://sarcomahelp.org/learning_center/synovial_sarcoma.html disease_ontology DOID:5491 pediatric synovial sarcoma true NCI:C4279 SNOMEDCT_US_2016_03_01:18588008 UMLS_CUI:C0334507 Biphasic sarcoma of Synovium Synovial sarcoma, biphasic (morphologic abnormality) disease_ontology DOID:5492 biphasic synovial sarcoma Biphasic sarcoma of Synovium NCI2004_11_17:C4279 Synovial sarcoma, biphasic (morphologic abnormality) SNOMEDCT_2005_07_31:18588008 relapsed Synovial sarcoma disease_ontology DOID:5493 recurrent synovial sarcoma true relapsed Synovial sarcoma NCI2004_11_17:C8827 NCI:C4278 SNOMEDCT_US_2016_03_01:56422000 UMLS_CUI:C0334506 Synovial sarcoma, epithelioid cell (morphologic abnormality) epithelioid Synovial sarcoma disease_ontology DOID:5494 epithelioid cell synovial sarcoma Synovial sarcoma, epithelioid cell (morphologic abnormality) SNOMEDCT_2005_07_31:56422000 epithelioid Synovial sarcoma NCI2004_11_17:C4278 NCI:C6534 UMLS_CUI:C1334801 Monophasic sarcoma of Synovium disease_ontology DOID:5495 monophasic synovial sarcoma Monophasic sarcoma of Synovium NCI2004_11_17:C6534 Non-metastatic Synovial sarcoma disease_ontology DOID:5496 nonmetastatic synovial sarcoma true Non-metastatic Synovial sarcoma NCI2004_11_17:C8826 A dsDNA-RT virus infectious disease that results_in infection in animals and humans, located_in liver, has_material_basis_in Hepadnaviridae viruses. disease_ontology DOID:5497 Hepadnaviridae infectious disease true A dsDNA-RT virus infectious disease that results_in infection in animals and humans, located_in liver, has_material_basis_in Hepadnaviridae viruses. url:http://en.wikipedia.org/wiki/Hepadnaviridae MESH:D004806 NCI:C4713 NCI:C4714 SNOMEDCT_US_2016_03_01:253067007 SNOMEDCT_US_2016_03_01:253068002 SNOMEDCT_US_2016_03_01:57706008 UMLS_CUI:C1384403 disease_ontology DOID:5500 cellular ependymoma A lice infestation that involves colonization of the hair and skin by the parasitic insect Pediculus humanus capitis, which feeds on blood several times daily and resides close to the scalp to maintain its body temperature. The symptoms include tickling feeling of something moving in the hair, itching, caused by an allergic reaction to louse saliva, and irritability. ICD10CM:B85.0 ICD9CM:132.0 SNOMEDCT_US_2016_03_01:243682006 SNOMEDCT_US_2016_03_01:271544006 SNOMEDCT_US_2016_03_01:81000006 UMLS_CUI:C0030757 Pediculosis capitis (disorder) Pediculus capitis Pediculus capitis [head louse] Pediculus capitis infestation head louse infestation disease_ontology DOID:5501 Pediculus humanus capitis infestation A lice infestation that involves colonization of the hair and skin by the parasitic insect Pediculus humanus capitis, which feeds on blood several times daily and resides close to the scalp to maintain its body temperature. The symptoms include tickling feeling of something moving in the hair, itching, caused by an allergic reaction to louse saliva, and irritability. url:http://en.wikipedia.org/wiki/Head-louse_infestation url:http://www.dpd.cdc.gov/dpdx/HTML/HeadLice.htm Pediculosis capitis (disorder) SNOMEDCT_2005_07_31:81000006 Pediculus capitis MTHICD9_2006:132.0 Pediculus capitis SNOMEDCT_2005_07_31:243682006 Pediculus capitis [head louse] ICD9CM_2006:132.0 head louse infestation SNOMEDCT_2005_07_31:271544006 A parasitic ectoparasitic infectious disease that involves infestation of lice, which are blood-feeding ectoparasitic insects of the order Phthiraptera. DOID:5490 DOID:5523 ICD10CM:B85.2 ICD9CM:132.9 MESH:D010373 SNOMEDCT_US_2016_03_01:154417001 SNOMEDCT_US_2016_03_01:187207005 SNOMEDCT_US_2016_03_01:187212006 SNOMEDCT_US_2016_03_01:187545007 SNOMEDCT_US_2016_03_01:20848007 SNOMEDCT_US_2016_03_01:266223008 SNOMEDCT_US_2016_03_01:414618002 SNOMEDCT_US_2016_03_01:74949007 UMLS_CUI:C0030756 Infestation by Pediculus (disorder) Lice infestation, NOS Louse infestation (& [pediculosis and phthirus] or [lice]) Louse infestation (disorder) Pediculosis + lice NOS Pediculosis and phthirus infection NOS (disorder) Pediculosis and phthirus infections (disorder) Pediculosis and phthirus infestation Pediculosis, unspecified Pediculosis, unspecified (disorder) mixed pediculosis mixed pediculosis (disorder) mixed pediculosis infestation pediculosis pediculosis and phthirus infection disease_ontology DOID:5502 lice infestation A parasitic ectoparasitic infectious disease that involves infestation of lice, which are blood-feeding ectoparasitic insects of the order Phthiraptera. url:http://en.wikipedia.org/wiki/Pediculosis Infestation by Pediculus (disorder) SNOMEDCT_2005_07_31:20848007 Lice infestation, NOS SNOMEDCT_2005_07_31:74949007 Louse infestation (& [pediculosis and phthirus] or [lice]) SNOMEDCT_2005_07_31:187207005 Louse infestation (disorder) SNOMEDCT_2005_07_31:414618002 Pediculosis + lice NOS SNOMEDCT_2005_07_31:154417001 Pediculosis + lice NOS SNOMEDCT_2005_07_31:266223008 Pediculosis and phthirus infection NOS (disorder) SNOMEDCT_2005_07_31:187213001 Pediculosis and phthirus infections (disorder) SNOMEDCT_2005_07_31:266166005 Pediculosis and phthirus infestation ICD9CM_2006:132 Pediculosis, unspecified ICD9CM_2006:132.9 Pediculosis, unspecified SNOMEDCT_2005_07_31:187212006 Pediculosis, unspecified (disorder) SNOMEDCT_2005_07_31:187545007 mixed pediculosis (disorder) SNOMEDCT_2005_07_31:91566005 mixed pediculosis infestation ICD9CM_2006:132.3 A spinal cord glioma that has_material_basis_in cells linking the spinal cord central canal. NCI:C3875 SNOMEDCT_US_2016_03_01:254949006 UMLS_CUI:C0238432 Ependymal neoplasm of the Spinal Cord disease_ontology DOID:5503 spinal cord ependymoma A spinal cord glioma that has_material_basis_in cells linking the spinal cord central canal. url:http://www.cancer.gov/dictionary?CdrID=46432 Ependymal neoplasm of the Spinal Cord NCI2004_11_17:C3875 NCI:C6903 SNOMEDCT_US_2016_03_01:397378002 SNOMEDCT_US_2016_03_01:57706008 UMLS_CUI:C1370500 disease_ontology DOID:5504 tanycytic ependymoma MESH:D004806 NCI:C4319 SNOMEDCT_US_2016_03_01:112686007 SNOMEDCT_US_2016_03_01:128839002 UMLS_CUI:C0334578 disease_ontology DOID:5505 papillary ependymoma disease_ontology DOID:5507 clear cell ependymoma NCI:C5098 SNOMEDCT_US_2016_03_01:107561000119107 UMLS_CUI:C1332609 Ependymoma of the Brainstem disease_ontology DOID:5508 brain stem ependymoma Ependymoma of the Brainstem NCI2004_11_17:C5098 NCI:C8578 childhood ependymoma disease_ontology DOID:5509 pediatric ependymoma A pneumonia that is an acute inflammation of the lungs induced by inhalation of metal fumes or toxic gases and vapors. It is a sentinel health event (occupational) associated with exposure to ammonia (refrigeration, fertilizer, and oil refining industries), chlorine (alkali and bleach industries), nitrogen oxides (silo fillers, arc welders, and nitric acid industry), sulfur dioxide (paper, refrigeration, and oil refining industries), cadmium (processors and cadmium smelters), trimellitic anhydride (plastics and organic chemical synthesis), and vanadium pentoxide (boilermakers). The two types of pulmonary agents are central and peripheral. Central pulmonary agents, for example, ammonia, are water soluble irritants that injure the upper airways. Peripheral pulmonary agents, for example, phosgene, NOx, and PFIB, are slightly water soluble irritants that injure the alveolar-capillary membranes. Chlorine has both central and peripheral effects. DOID:549 DOID:550 DOID:553 DOID:554 ICD9CM:506.9 UMLS_CUI:C0041881 acute chemical fume pulmonary edema acute chemical pulmonary edema disease_ontology DOID:551 toxic pneumonitis A pneumonia that is an acute inflammation of the lungs induced by inhalation of metal fumes or toxic gases and vapors. It is a sentinel health event (occupational) associated with exposure to ammonia (refrigeration, fertilizer, and oil refining industries), chlorine (alkali and bleach industries), nitrogen oxides (silo fillers, arc welders, and nitric acid industry), sulfur dioxide (paper, refrigeration, and oil refining industries), cadmium (processors and cadmium smelters), trimellitic anhydride (plastics and organic chemical synthesis), and vanadium pentoxide (boilermakers). The two types of pulmonary agents are central and peripheral. Central pulmonary agents, for example, ammonia, are water soluble irritants that injure the upper airways. Peripheral pulmonary agents, for example, phosgene, NOx, and PFIB, are slightly water soluble irritants that injure the alveolar-capillary membranes. Chlorine has both central and peripheral effects. url:http://hazmap.nlm.nih.gov/cgi-bin/hazmap_generic?tbl=TblDiseases&id=306 acute chemical fume pulmonary edema SNOMEDCT_2005_07_31:155594004 NCI:C7169 UMLS_CUI:C1335415 disease_ontology DOID:5510 pineal dysgerminoma A dysgerminoma that is located_in the ovary. NCI:C8106 SNOMEDCT_US_2016_03_01:254874008 UMLS_CUI:C0346185 Dysgerminoma of ovary (disorder) Ovarian Dysgerminoma disease_ontology DOID:5511 dysgerminoma of ovary A dysgerminoma that is located_in the ovary. url:http://en.wikipedia.org/wiki/Dysgerminoma url:http://www.cancer.gov/dictionary?CdrID=672835 Dysgerminoma of ovary (disorder) SNOMEDCT_2005_07_31:254874008 Ovarian Dysgerminoma NCI2004_11_17:C8106 A lice infestation that is a cutaneous condition caused by parasitic infestation of body lice Pediculus humanus corporis, which feed on the human blood. Body lice can spread epidemic typhus, trench fever, and louse-borne relapsing fever. ICD10CM:B85.1 ICD9CM:132.1 SNOMEDCT_US_2016_03_01:25188002 UMLS_CUI:C0030758 Pediculus corporis Pediculus corporis [body louse] Pediculus humanus infestation body louse infestation disease_ontology DOID:5513 Pediculus humanus corporis infestation A lice infestation that is a cutaneous condition caused by parasitic infestation of body lice Pediculus humanus corporis, which feed on the human blood. Body lice can spread epidemic typhus, trench fever, and louse-borne relapsing fever. url:http://www.nlm.nih.gov/medlineplus/ency/article/000838.htm Pediculus corporis MTHICD9_2006:132.1 Pediculus corporis [body louse] ICD9CM_2006:132.1 Pediculus humanus infestation SNOMEDCT_2005_07_31:25188002 DOID:7300 NCI:C5177 UMLS_CUI:C1336079 SCC of breast breast primary squamous cell carcinoma primary squamous cell carcinoma of the breast disease_ontology primary squamous cell carcinoma of breast squamous cell carcinoma of breast DOID:5514 breast squamous cell carcinoma SCC of breast NCI2004_11_17:C5177 primary squamous cell carcinoma of the breast NCI2004_11_17:C5179 A nasal cavity carcinoma that has_material_basis_in squamous cells. NCI:C8192 UMLS_CUI:C0280333 squamous cell carcinoma of the nasal cavity disease_ontology squamous cell carcinoma of nasal cavity DOID:5515 nasal cavity squamous cell carcinoma A nasal cavity carcinoma that has_material_basis_in squamous cells. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma squamous cell carcinoma of the nasal cavity NCI2004_11_17:C8192 NCI:C5475 UMLS_CUI:C1333789 squamous cell carcinoma of stomach disease_ontology DOID:5516 gastric squamous cell carcinoma squamous cell carcinoma of stomach NCI2004_11_17:C5475 A stomach cancer that is located_in the stomach. EFO:0000178 NCI:C4911 SNOMEDCT_US_2016_03_01:154446008 SNOMEDCT_US_2016_03_01:255080008 SNOMEDCT_US_2016_03_01:372143007 UMLS_CUI:C0699791 cancer of the stomach carcinoma of stomach carcinoma of stomach (disorder) gastric carcinoma disease_ontology DOID:5517 stomach carcinoma A stomach cancer that is located_in the stomach. url:http://en.wikipedia.org/wiki/Stomach_cancer cancer of the stomach NCI2004_11_17:C4911 carcinoma of stomach SNOMEDCT_2005_07_31:154446008 carcinoma of stomach (disorder) SNOMEDCT_2005_07_31:255080008 carcinoma of stomach (disorder) SNOMEDCT_2005_07_31:372143007 A penis carcinoma that has_material_basis_in squamous cells. DOID:8008 NCI:C6979 NCI:C7729 SNOMEDCT_US_2016_03_01:403468003 UMLS_CUI:C0238348 UMLS_CUI:C1336081 Epidermoid cell carcinoma of penis disease_ontology squamous cell carcinoma of penis DOID:5518 penis squamous cell carcinoma A penis carcinoma that has_material_basis_in squamous cells. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma Epidermoid cell carcinoma of penis NCI2004_11_17:C7729 NCI:C5490 UMLS_CUI:C1333100 Colonic Epidermoid carcinoma disease_ontology squamous cell carcinoma of colon DOID:5519 colon squamous cell carcinoma Colonic Epidermoid carcinoma NCI2004_11_17:C5490 A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing. DOID:10509 DOID:11742 DOID:5871 MESH:D011014 NCI:C3333 SNOMEDCT_US_2016_03_01:155548002 SNOMEDCT_US_2016_03_01:155552002 SNOMEDCT_US_2016_03_01:155558003 SNOMEDCT_US_2016_03_01:233604007 SNOMEDCT_US_2016_03_01:266391003 SNOMEDCT_US_2016_03_01:274103002 SNOMEDCT_US_2016_03_01:60363000 UMLS_CUI:C0032285 acute pneumonia disease_ontology DOID:552 pneumonia A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing. url:http://en.wikipedia.org/wiki/Pneumonia A head and neck carcinoma that has_material_basis_in squamous cells that line the moist, mucosal surfaces inside the head and neck. MESH:C535575 NCI:C34447 OMIM:275355 UMLS_CUI:C1168401 carcinoma of the head and neck squamous cell carcinoma of the head and neck squamous cell carcinomas of head and neck disease_ontology DOID:5520 OMIM mapping confirmed by DO. [SN]. head and neck squamous cell carcinoma A head and neck carcinoma that has_material_basis_in squamous cells that line the moist, mucosal surfaces inside the head and neck. url:http://atlasgeneticsoncology.org/Tumors/HeadNeckSCCID5090.html url:http://en.wikipedia.org/wiki/Head_and_neck_cancer#Squamous_cell_carcinoma url:http://www.cancer.gov/cancertopics/factsheet/Sites-Types/head-and-neck url:http://www.cancer.gov/dictionary?CdrID=597171 carcinoma of the head and neck NCI2004_11_17:C35850 squamous cell carcinoma of the head and neck NCI2004_11_17:C34447 A squamous cell carcinoma that presents as single, isolated cells with bizzare cytoplasmic shapes, intense cytoplasmic eosinophilia, and intensely hyperchromatic, angular nuclei in a background of necrotic and keratinous debris. NCI:C4105 SNOMEDCT_US_2016_03_01:18048008 SNOMEDCT_US_2016_03_01:189568009 UMLS_CUI:C0334247 Keratinizing squamous cell carcinoma keratinizing epidermoid carcinoma squamous cell carcinoma, keratinizing (morphologic abnormality) disease_ontology DOID:5521 keratinizing squamous cell carcinoma A squamous cell carcinoma that presents as single, isolated cells with bizzare cytoplasmic shapes, intense cytoplasmic eosinophilia, and intensely hyperchromatic, angular nuclei in a background of necrotic and keratinous debris. url:http://books.google.com/books?id=TQju7e__pRIC&pg=PA1132&lpg=PA1132&dq#v=onepage&q&f=false Keratinizing squamous cell carcinoma NCI2004_11_17:C4105 squamous cell carcinoma, keratinizing (morphologic abnormality) SNOMEDCT_2005_07_31:18048008 A squamous cell carcinoma that has a solid, closely packed growth of cells with hyperchromatic nuclei, scant cytoplasm, small cystic spaces, and foci of necrosis. It has overlying squamous dysplasia, rare foci of overt keratinization, and/or coexistent keratinizing squamous cell carcinoma. NCI:C54244 SNOMEDCT_US_2016_03_01:128634009 UMLS_CUI:C1266005 Basaloid carcinoma Basaloid carcinoma (morphologic abnormality) Basaloid squamous cell carcinoma (morphologic abnormality) disease_ontology DOID:5522 basaloid squamous cell carcinoma A squamous cell carcinoma that has a solid, closely packed growth of cells with hyperchromatic nuclei, scant cytoplasm, small cystic spaces, and foci of necrosis. It has overlying squamous dysplasia, rare foci of overt keratinization, and/or coexistent keratinizing squamous cell carcinoma. url:http://www.ncbi.nlm.nih.gov/pubmed/19738459 Basaloid carcinoma NCI2004_11_17:C4121 Basaloid carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:5843004 Basaloid squamous cell carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:128634009 A squamous cell carcinoma that is characterized by a tubular microscopic pattern and keratinocyte acantholysis. DOID:6593 NCI:C4106 NCI:C4200 SNOMEDCT_US_2016_03_01:15176003 SNOMEDCT_US_2016_03_01:403901001 SNOMEDCT_US_2016_03_01:85956000 UMLS_CUI:C0334250 UMLS_CUI:C0334393 Acantholytic squamous cell carcinoma (disorder) Pseudoglandular squamous carcinoma adenoacanthoma adenocarcinoma with squamous metaplasia (morphologic abnormality) adenoid squamous cell carcinoma (morphologic abnormality) disease_ontology DOID:5524 adenoid squamous cell carcinoma A squamous cell carcinoma that is characterized by a tubular microscopic pattern and keratinocyte acantholysis. url:http://en.wikipedia.org/wiki/Adenoid_squamous-cell_carcinoma Acantholytic squamous cell carcinoma (disorder) SNOMEDCT_2005_07_31:403901001 Pseudoglandular squamous carcinoma NCI2004_11_17:C4106 adenocarcinoma with squamous metaplasia (morphologic abnormality) SNOMEDCT_2005_07_31:15176003 adenoid squamous cell carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:85956000 An anal carcinoma that arises near the squamocolumnar junction. NCI:C9161 SNOMEDCT_US_2016_03_01:255084004 UMLS_CUI:C1412036 Epidermoid anal carcinoma disease_ontology DOID:5525 anal squamous cell carcinoma An anal carcinoma that arises near the squamocolumnar junction. url:http://en.wikipedia.org/wiki/Anal_cancer Epidermoid anal carcinoma NCI2004_11_17:C9161 A middle ear carcinoma that has_material_basis_in squamous cells. NCI:C6086 UMLS_CUI:C1334762 Epidermoid carcinoma of the middle ear disease_ontology squamous cell carcinoma of middle ear DOID:5526 middle ear squamous cell carcinoma A middle ear carcinoma that has_material_basis_in squamous cells. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma Epidermoid carcinoma of the middle ear NCI2004_11_17:C6086 An ampulla of Vater carcinoma that derives_from epithelial squamous cells. NCI:C27417 UMLS_CUI:C1332251 disease_ontology DOID:5527 ampulla of Vater squamous cell carcinoma An ampulla of Vater carcinoma that derives_from epithelial squamous cells. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma NCI:C5554 UMLS_CUI:C1335690 squamous carcinoma of rectum disease_ontology squamous cell carcinoma of the rectum DOID:5528 rectum squamous cell carcinoma squamous carcinoma of rectum NCI2004_11_17:C5554 NCI:C6092 UMLS_CUI:C1334360 Epidermoid carcinoma of the lacrimal gland disease_ontology squamous cell carcinoma of lacrimal gland DOID:5529 lacrimal gland squamous cell carcinoma Epidermoid carcinoma of the lacrimal gland NCI2004_11_17:C6092 NCI:C6455 UMLS_CUI:C1336082 Epidermoid Thymic carcinoma disease_ontology DOID:5530 thymus squamous cell carcinoma Epidermoid Thymic carcinoma NCI2004_11_17:C6455 NCI:C40093 disease_ontology DOID:5531 ovarian squamous cell carcinoma NCI:C40092 UMLS_CUI:C1518739 disease_ontology DOID:5532 ovarian squamous cell neoplasm NCI:C8719 UMLS_CUI:C1333396 squamous cell carcinoma of Endometrium disease_ontology DOID:5533 endometrial squamous cell carcinoma squamous cell carcinoma of Endometrium NCI2004_11_17:C8719 NCI:C7732 UMLS_CUI:C0238409 Epidermoid carcinoma of the kidney Pelvis disease_ontology squamous cell carcinoma of renal pelvis DOID:5534 renal pelvis squamous cell carcinoma Epidermoid carcinoma of the kidney Pelvis NCI2004_11_17:C7732 NCI:C9170 UMLS_CUI:C0279658 Epidermoid gallbladder carcinoma disease_ontology squamous cell carcinoma of the gallbladder DOID:5535 gallbladder squamous cell carcinoma Epidermoid gallbladder carcinoma NCI2004_11_17:C9170 NCI:C27084 NCI:C4666 SNOMEDCT_US_2016_03_01:10288008 SNOMEDCT_US_2016_03_01:254653005 SNOMEDCT_US_2016_03_01:403900000 UMLS_CUI:C0349656 spindle cell (sarcomatoid) squamous cell carcinoma spindle cell (sarcomatoid) squamous cell skin carcinoma spindle cell squamous carcinoma of skin (disorder) spindle cell squamous cell carcinoma (disorder) squamous cell carcinoma, sarcomatoid disease_ontology DOID:5536 sarcomatoid squamous cell skin carcinoma spindle cell (sarcomatoid) squamous cell carcinoma NCI2004_11_17:C27084 spindle cell (sarcomatoid) squamous cell skin carcinoma NCI2004_11_17:C4666 spindle cell squamous carcinoma of skin (disorder) SNOMEDCT_2005_07_31:254653005 spindle cell squamous cell carcinoma (disorder) SNOMEDCT_2005_07_31:403900000 squamous cell carcinoma, sarcomatoid SNOMEDCT_2005_07_31:10288008 NCI:C5777 UMLS_CUI:C0861861 bile duct squamous cell carcinoma disease_ontology DOID:5537 squamous cell bile duct carcinoma bile duct squamous cell carcinoma NCI2004_11_17:C5777 NCI:C6083 UMLS_CUI:C1333494 Epidermoid carcinoma of the External ear disease_ontology squamous cell carcinoma of external ear DOID:5538 external ear squamous cell carcinoma Epidermoid carcinoma of the External ear NCI2004_11_17:C6083 NCI:C6154 UMLS_CUI:C1336879 ureteral Epidermoid carcinoma disease_ontology DOID:5539 ureter squamous cell carcinoma ureteral Epidermoid carcinoma NCI2004_11_17:C6154 NCI:C6282 UMLS_CUI:C1333596 squamous cell carcinoma of the fallopian tube disease_ontology DOID:5540 fallopian tube squamous cell carcinoma squamous cell carcinoma of the fallopian tube NCI2004_11_17:C6282 NCI:C5603 UMLS_CUI:C1332273 neuroendocrine tumor of anus disease_ontology DOID:5545 anal neuroendocrine tumor neuroendocrine tumor of anus NCI2004_11_17:C5603 A bone cancer that is located_in the femur. MESH:D005266 SNOMEDCT_US_2016_03_01:126583006 UMLS_CUI:C0015807 neoplasm of femur disease_ontology femoral neoplasm DOID:5546 femoral cancer A bone cancer that is located_in the femur. url:http://lib.bioinfo.pl/meid:61888 neoplasm of femur SNOMEDCT_2005_07_31:126583006 NCI:C5381 UMLS_CUI:C1335571 Syncytioma of pulmonary artery disease_ontology DOID:5547 pulmonary artery choriocarcinoma Syncytioma of pulmonary artery NCI2004_11_17:C5381 Choriocarcinoma of CNS disease_ontology DOID:5549 CNS choriocarcinoma true Choriocarcinoma of CNS NCI2004_11_17:C7012 NCI:C4515 SNOMEDCT_US_2016_03_01:254870004 UMLS_CUI:C0346181 Choriocarcinoma of ovary (disorder) Ovarian Choriocarcinoma disease_ontology DOID:5550 choriocarcinoma of ovary Choriocarcinoma of ovary (disorder) SNOMEDCT_2005_07_31:254870004 Ovarian Choriocarcinoma NCI2004_11_17:C4515 NCI:C7733 SNOMEDCT_US_2016_03_01:147371000119101 UMLS_CUI:C0238449 testicular Choriocarcinoma disease_ontology DOID:5551 choriocarcinoma of the testis testicular Choriocarcinoma NCI2004_11_17:C7733 Choriocarcinoma of mediastinum disease_ontology DOID:5552 mediastinum choriocarcinoma true Choriocarcinoma of mediastinum NCI2004_11_17:C6440 NCI:C6759 UMLS_CUI:C1335414 Pineal Choriocarcinoma disease_ontology DOID:5553 pineal region choriocarcinoma Pineal Choriocarcinoma NCI2004_11_17:C6759 NCI:C9063 SNOMEDCT_US_2016_03_01:713646001 UMLS_CUI:C0855197 malignant germ cell tumor of testis disease_ontology DOID:5556 testicular malignant germ cell cancer malignant germ cell tumor of testis NCI2004_11_17:C9063 A testicular cancer that has_material_basis_in germ cells. MESH:C563236 NCI:C8591 OMIM:273300 OMIM:300228 ORDO:3636504 SNOMEDCT_US_2016_03_01:713577007 UMLS_CUI:C1336708 germ cell tumor of testis disease_ontology testicular germ cell neoplasm DOID:5557 Xref MGI. OMIM mapping confirmed by DO. [LS]. testicular germ cell cancer A testicular cancer that has_material_basis_in germ cells. url:http://cancergenome.nih.gov/cancersselected/TesticularGermCellCancer url:http://www.cancer.gov/dictionary?CdrID=445090 url:http://www.cancer.gov/dictionary?CdrID=695185 germ cell tumor of testis NCI2004_11_17:C8591 A thoracic cancer that is located_in the mediastinum. DOID:9914 ICD10CM:C38.3 ICD9CM:164.9 MESH:D008479 NCI:C3221 NCI:C3549 SNOMEDCT_US_2016_03_01:126725000 SNOMEDCT_US_2016_03_01:187889002 SNOMEDCT_US_2016_03_01:190097009 SNOMEDCT_US_2016_03_01:363494000 SNOMEDCT_US_2016_03_01:93891008 SNOMEDCT_US_2016_03_01:94147001 UMLS_CUI:C0025063 UMLS_CUI:C0153504 Tumour of mediastinum mediastinal tumor mediastinum cancer neoplasm of mediastinum (disorder) disease_ontology DOID:5559 mediastinal cancer A thoracic cancer that is located_in the mediastinum. url:http://en.wikipedia.org/wiki/Mediastinal Tumour of mediastinum SNOMEDCT_2005_07_31:94147001 mediastinal tumor NCI2004_11_17:C3221 neoplasm of mediastinum (disorder) SNOMEDCT_2005_07_31:126725000 NCI:C6637 UMLS_CUI:C1334669 soft tissue tumor of mediastinum disease_ontology DOID:5560 mediastinal mesenchymal tumor soft tissue tumor of mediastinum NCI2004_11_17:C6637 NCI:C5259 UMLS_CUI:C1333790 teratoma of stomach disease_ontology DOID:5561 gastric teratoma teratoma of stomach NCI2004_11_17:C5259 Dermoid cyst with malignant transformation (morphologic abnormality) teratoma with malignant Transformation teratoma with malignant transformation (morphologic abnormality) teratoma with malignant transformation [dup] (morphologic abnormality) disease_ontology DOID:5562 dermoid cyst with malignant transformation true Dermoid cyst with malignant transformation (morphologic abnormality) SNOMEDCT_2005_07_31:189849004 teratoma with malignant Transformation NCI2004_11_17:C4289 teratoma with malignant transformation (morphologic abnormality) SNOMEDCT_2005_07_31:88334008 teratoma with malignant transformation [dup] (morphologic abnormality) SNOMEDCT_2005_07_31:302854009 DOID:6106 MESH:D013724 NCI:C4286 NCI:C8884 SNOMEDCT_US_2016_03_01:189847002 SNOMEDCT_US_2016_03_01:19467007 UMLS_CUI:C0334520 UMLS_CUI:C0855163 Immature teratoma malignant Extragonadal teratoma primary malignant extragonadal teratoma disease_ontology DOID:5563 malignant teratoma Immature teratoma NCI2004_11_17:C4286 malignant Extragonadal teratoma NCI2004_11_17:C8884 NCI:C40131 UMLS_CUI:C1517127 disease_ontology DOID:5564 fallopian tube teratoma NCI:C9013 SNOMEDCT_US_2016_03_01:42717009 UMLS_CUI:C1368898 adult teratoma, NOS disease_ontology DOID:5565 adult teratoma adult teratoma, NOS SNOMEDCT_2005_07_31:42717009 NCI:C9015 SNOMEDCT_US_2016_03_01:42717009 SNOMEDCT_US_2016_03_01:55818009 UMLS_CUI:C1368910 Mature teratoma disease_ontology DOID:5566 mature teratoma Mature teratoma SNOMEDCT_2005_07_31:42717009 Mature teratoma SNOMEDCT_2005_07_31:55818009 NCI:C8110 UMLS_CUI:C0280131 germ cell teratoma of Ovary disease_ontology DOID:5567 ovarian germ cell teratoma germ cell teratoma of Ovary NCI2004_11_17:C8110 NCI:C6438 UMLS_CUI:C1334682 teratoma of mediastinum disease_ontology DOID:5568 mediastinum teratoma teratoma of mediastinum NCI2004_11_17:C6438 Microcystic Adnexal carcinoma Microcystic adnexal carcinoma of skin (disorder) Syringomatous carcinoma disease_ontology DOID:5569 malignant syringoma Microcystic Adnexal carcinoma NCI2004_11_17:C7581 Microcystic adnexal carcinoma of skin (disorder) SNOMEDCT_2005_07_31:254712007 Syringomatous carcinoma SNOMEDCT_2005_07_31:128896007 A urinary system disease that is located_in the kidney. EFO:0003086 ICD10CM:N08 ICD10CM:N28.9 MESH:D007674 NCI:C3149 NCI:C34843 SNOMEDCT_US_2016_03_01:155871008 SNOMEDCT_US_2016_03_01:266612003 SNOMEDCT_US_2016_03_01:266624005 SNOMEDCT_US_2016_03_01:266627003 SNOMEDCT_US_2016_03_01:274108006 SNOMEDCT_US_2016_03_01:90708001 UMLS_CUI:C0022658 nephropathy disease_ontology DOID:557 kidney disease A urinary system disease that is located_in the kidney. url:http://www.nlm.nih.gov/medlineplus/kidneydiseases.html NCI:C43345 SNOMEDCT_US_2016_03_01:400208002 SNOMEDCT_US_2016_03_01:403939009 UMLS_CUI:C1260964 Eccrine ductal carcinoma (morphologic abnormality) Eccrine ductal carcinoma of skin anaplastic syringoma malignant Acrospiroma disease_ontology DOID:5570 malignant acrospiroma Eccrine ductal carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:400208002 Eccrine ductal carcinoma of skin SNOMEDCT_2005_07_31:403939009 malignant Acrospiroma NCI2004_11_17:C27532 A syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations. ICD10CM:Q87.3 MESH:D001506 NCI:C34415 OMIM:130650 ORDO:116 SNOMEDCT_US_2016_03_01:81780002 UMLS_CUI:C0004903 disease_ontology DOID:5572 OMIM mapping confirmed by DO. [SN]. Beckwith-Wiedemann syndrome A syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations. url:http://en.wikipedia.org/wiki/Beckwith%E2%80%93Wiedemann_syndrome url:http://ghr.nlm.nih.gov/condition/beckwith-wiedemann-syndrome url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/52/viewAbstract A viral infectious disease that results_in infection in swine, has_material_basis_in Classical swine fever virus, which is transmitted_by direct contact with oronasal secretions of the infected pig, transmitted_by ingestion of contaminated food, and transmitted_by fomites. The infection has_symptom high fever, has_symptom huddling, has_symptom weakness, has_symptom drowsiness, has_symptom anorexia, has_symptom conjunctivitis, has_symptom diarrhea, and has_symptom hemorrhages in the skin. Hog cholera (disorder) disease_ontology DOID:5573 classical swine fever true A viral infectious disease that results_in infection in swine, has_material_basis_in Classical swine fever virus, which is transmitted_by direct contact with oronasal secretions of the infected pig, transmitted_by ingestion of contaminated food, and transmitted_by fomites. The infection has_symptom high fever, has_symptom huddling, has_symptom weakness, has_symptom drowsiness, has_symptom anorexia, has_symptom conjunctivitis, has_symptom diarrhea, and has_symptom hemorrhages in the skin. url:http://www.cfsph.iastate.edu/Factsheets/pdfs/classical_swine_fever.pdf Hog cholera (disorder) SNOMEDCT_2005_07_31:28044006 MESH:D003969 NCI:C26749 SNOMEDCT_US_2016_03_01:253005002 SNOMEDCT_US_2016_03_01:447643008 UMLS_CUI:C0011993 VIP- Secreting tumor Vasoactive intestinal peptide-secreting tumor (disorder) Vipoma, malignant malignant vasoactive intestinal peptide-secreting tumor disease_ontology DOID:5574 VIPoma VIP- Secreting tumor NCI2004_11_17:C26749 Vasoactive intestinal peptide-secreting tumor (disorder) SNOMEDCT_2005_07_31:253005002 Vipoma, malignant SNOMEDCT_2005_07_31:31131002 Delay in sexual development and/or puberty Delayed puberty Delayed puberty (& [NOS]) Delayed puberty (disorder) Delayed puberty NOS delayed puberty disease_ontology DOID:5575 delayed puberty true Delay in sexual development and/or puberty SNOMEDCT_2005_07_31:123526007 Delayed puberty MTHICD9_2006:259.0 Delayed puberty SNOMEDCT_2005_07_31:39760001 Delayed puberty (& [NOS]) SNOMEDCT_2005_07_31:154715005 Delayed puberty (disorder) SNOMEDCT_2005_07_31:400003000 Delayed puberty NOS SNOMEDCT_2005_07_31:267487003 delayed puberty CSP2005:2586-8835 ICD10CM:F52.32 NCI:C34959 SNOMEDCT_US_2016_03_01:153261000119109 SNOMEDCT_US_2016_03_01:191795002 SNOMEDCT_US_2016_03_01:81903006 UMLS_CUI:C0033949 male Orgasmic disorder disease_ontology DOID:5576 inhibited male orgasm male Orgasmic disorder NCI2004_11_17:C34959 A neuroendocrine tumor that results_in an overproduction of gastric acid. MESH:D015408 NCI:C3050 SNOMEDCT_US_2016_03_01:134156006 SNOMEDCT_US_2016_03_01:16189002 SNOMEDCT_US_2016_03_01:302824004 UMLS_CUI:C0017150 Gastrin Secreting tumor Gastrin cell tumour malignant gastrinoma disease_ontology DOID:5577 gastrinoma A neuroendocrine tumor that results_in an overproduction of gastric acid. url:http://www.cancer.gov/dictionary?CdrID=44239 Gastrin Secreting tumor NCI2004_11_17:C3050 Gastrin cell tumour SNOMEDCT_2005_07_31:16189002 small intestinal G-cell gastrin producing tumor disease_ontology DOID:5578 small intestinal gastrinoma true NCI:C27444 UMLS_CUI:C1333767 gastric G-cell gastrin producing tumor disease_ontology DOID:5579 gastric gastrinoma disease_ontology DOID:558 acute pyelonephritis without lesion of renal medullary necrosis true NCI:C9069 NCI:C95596 UMLS_CUI:C1368066 pancreatic G-cell tumor disease_ontology DOID:5580 pancreatic gastrinoma pancreatic G-cell tumor NCI2004_11_17:C9069 A lung carcinoma that is located_in large undifferentiated cells. DOID:5584 MESH:D018286 NCI:C3779 NCI:C4452 SNOMEDCT_US_2016_03_01:254631008 SNOMEDCT_US_2016_03_01:42596004 UMLS_CUI:C0206703 UMLS_CUI:C0345960 Giant cell carcinoma Giant cell lung carcinoma disease_ontology DOID:5583 lung giant cell carcinoma A lung carcinoma that is located_in large undifferentiated cells. url:http://chemo.net/large.htm url:http://medical-dictionary.thefreedictionary.com/giant+cell+carcinoma Giant cell carcinoma NCI2004_11_17:C3779 Giant cell lung carcinoma NCI2004_11_17:C4452 NCI:C4461 SNOMEDCT_US_2016_03_01:254659009 UMLS_CUI:C0345982 Multiple self-healing epithelioma of Ferguson-Smith (disorder) disease_ontology DOID:5585 Ferguson-Smith tumor Multiple self-healing epithelioma of Ferguson-Smith (disorder) SNOMEDCT_2005_07_31:254659009 ICD10CM:T79.6 ICD9CM:958.6 MESH:D054061 NCI:C35130 SNOMEDCT_US_2016_03_01:111247001 SNOMEDCT_US_2016_03_01:157667008 UMLS_CUI:C0042951 Volkmann's ischemic contracture disease_ontology DOID:5587 Volkmann contracture Volkmann's ischemic contracture ICD9CM_2006:958.6 NCI:C5650 UMLS_CUI:C1335325 Papillary adenocarcinoma of the lung disease_ontology DOID:5588 lung papillary adenocarcinoma Papillary adenocarcinoma of the lung NCI2004_11_17:C5650 ICD10CM:N10 ICD9CM:590.1 NCI:C123215 SNOMEDCT_US_2016_03_01:155862004 SNOMEDCT_US_2016_03_01:197771007 SNOMEDCT_US_2016_03_01:22352007 SNOMEDCT_US_2016_03_01:266620001 SNOMEDCT_US_2016_03_01:36689008 UMLS_CUI:C0520575 acute pyelonephritis (disorder) acute pyelonephritis NOS (disorder) disease_ontology DOID:559 acute pyelonephritis acute pyelonephritis (disorder) SNOMEDCT_2005_07_31:36689008 acute pyelonephritis NOS (disorder) SNOMEDCT_2005_07_31:197771007 disease_ontology DOID:5590 aggressive digital papillary adenocarcinoma SNOMEDCT_US_2016_03_01:128898008 UMLS_CUI:C1367774 Digital papillary adenocarcinoma disease_ontology DOID:5591 eccrine papillary adenocarcinoma Digital papillary adenocarcinoma SNOMEDCT_2005_07_31:128898008 DOID:6800 NCI:C6870 UMLS_CUI:C1336027 Papillary carcinoma of the breast breast solid papillary carcinoma disease_ontology papillary carcinoma of breast solid papillary carcinoma of the breast DOID:5592 breast papillary carcinoma Papillary carcinoma of the breast NCI2004_11_17:C9134 NCI:C5472 UMLS_CUI:C1333785 Papillary adenocarcinoma of stomach disease_ontology DOID:5593 gastric papillary adenocarcinoma Papillary adenocarcinoma of stomach NCI2004_11_17:C5472 Intraductal Papillary adenocarcinoma with Invasion Intraductal papillary adenocarcinoma with invasion (morphologic abnormality) disease_ontology DOID:5594 intraductal papillary adenocarcinoma with invasion true Intraductal Papillary adenocarcinoma with Invasion NCI2004_11_17:C7439 Intraductal papillary adenocarcinoma with invasion (morphologic abnormality) SNOMEDCT_2005_07_31:64524002 NCI:C27937 UMLS_CUI:C1335327 Papillary carcinoma of the Thymus disease_ontology DOID:5595 papillary thymic adenocarcinoma Papillary carcinoma of the Thymus NCI2004_11_17:C27937 NCI:C6267 UMLS_CUI:C1333595 Papillary adenocarcinoma of the fallopian tube disease_ontology DOID:5597 fallopian tube papillary adenocarcinoma Papillary adenocarcinoma of the fallopian tube NCI2004_11_17:C6267 NCI:C40099 UMLS_CUI:C1517124 disease_ontology DOID:5598 fallopian tube serous adenocarcinoma Precursor T-Lymphoblastic Lymphoma/Leukemia disease_ontology DOID:5599 precursor T-lymphoblastic lymphoma/leukemia Precursor T-Lymphoblastic Lymphoma/Leukemia NCI2004_11_17:C8694 ICD10CM:Q07.8 ICD9CM:374.43 MESH:C535908 OMIM:154600 SNOMEDCT_US_2016_03_01:193949006 SNOMEDCT_US_2016_03_01:204089009 SNOMEDCT_US_2016_03_01:204090000 SNOMEDCT_US_2016_03_01:36603006 SNOMEDCT_US_2016_03_01:5127009 UMLS_CUI:C0266521 Jaw-blinking Marcus-Gunn syndrome Pterygoid-levator synkinesis abnormal innervation syndrome of eyelid disease_ontology DOID:560 OMIM mapping confirmed by DO. [SN]. jaw-winking syndrome Jaw-blinking MTHICD9_2006:374.43 Marcus-Gunn syndrome MTHICD9_2006:742.8 Pterygoid-levator synkinesis SNOMEDCT_2005_07_31:5127009 abnormal innervation syndrome of eyelid ICD9CM_2006:374.43 A lymphoblastic leukemia that has_material_basis_in immature malignant lymphocytes (lymphoblasts) committed to the B-cell or T-cell lineage and located_in bone marrow and located_in peripheral blood. MESH:D054198 NCI:C7055 UMLS_CUI:C1335469 disease_ontology DOID:5600 precursor lymphoblastic lymphoma/leukemia A lymphoblastic leukemia that has_material_basis_in immature malignant lymphocytes (lymphoblasts) committed to the B-cell or T-cell lineage and located_in bone marrow and located_in peripheral blood. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C7055 disease_ontology DOID:5601 T-cell neoplasm true NCI:C9142 UMLS_CUI:C0279592 adult Precursor T Lymphoblastic Leukemia disease_ontology DOID:5602 T-cell adult acute lymphocytic leukemia adult Precursor T Lymphoblastic Leukemia NCI2004_11_17:C9142 CSP:2004-1600 CSP:2004-1803 ICD10CM:C91.5 ICD10CM:C91.50 MESH:D015459 NCI:C3184 SNOMEDCT_US_2016_03_01:110007008 SNOMEDCT_US_2016_03_01:188729005 SNOMEDCT_US_2016_03_01:77430005 UMLS_CUI:C0023493 Precursor T Lymphoblastic Leukemia T-cell acute lymphoblastic leukemia (disorder) disease_ontology DOID:5603 acute T cell leukemia Precursor T Lymphoblastic Leukemia NCI2004_11_17:C3183 T-cell acute lymphoblastic leukemia (disorder) SNOMEDCT_2005_07_31:277575008 NCI:C4967 UMLS_CUI:C0751606 adult acute lymphoid Leukemia disease_ontology DOID:5604 adult acute lymphocytic leukemia adult acute lymphoid Leukemia NCI2004_11_17:C4967 NCI:C9119 UMLS_CUI:C0860580 Medullary breast carcinoma with lymphoid Stroma disease_ontology medullary carcinoma of breast DOID:5605 breast medullary carcinoma Medullary breast carcinoma with lymphoid Stroma NCI2004_11_17:C9119 ICD10CM:K04.2 MESH:D003784 SNOMEDCT_US_2016_03_01:57602001 UMLS_CUI:C0011401 pulp calcification pulp calcifications pulpal calcifications disease_ontology DOID:5608 dental pulp calcification pulp calcification CSP2005:0834-4423 pulp calcifications MTHICD9_2006:522.2 pulpal calcifications SNOMEDCT_2005_07_31:57602001 disease_ontology DOID:5609 congenital adrenal gland disorder true ICD9CM:350.8 UMLS_CUI:C0029834 disease_ontology DOID:561 trigeminal nerve disease malignant Intraspinal meningioma disease_ontology DOID:5611 anaplastic intraspinal meningioma true malignant Intraspinal meningioma NCI2004_11_17:C8605 A central nervous system cancer that is located_in the spinal cord. It is mostly formed from metastases from primary cancers elsewhere (commonly breast, prostate, and lung cancer). DOID:3638 DOID:7225 ICD10CM:C72.0 ICD9CM:192.2 MESH:D013120 MESH:D013125 NCI:C3381 NCI:C3572 SNOMEDCT_US_2016_03_01:126962006 SNOMEDCT_US_2016_03_01:363475005 SNOMEDCT_US_2016_03_01:709289008 SNOMEDCT_US_2016_03_01:94068003 UMLS_CUI:C0037930 UMLS_CUI:C0037939 UMLS_CUI:C0153646 Intraspinal tumor malignant tumor of the Spinal Cord spinal cord cancer spinal cord neoplasm tumor of the Spinal Cord disease_ontology spinal neoplasm DOID:5612 spinal cancer A central nervous system cancer that is located_in the spinal cord. It is mostly formed from metastases from primary cancers elsewhere (commonly breast, prostate, and lung cancer). url:http://en.wikipedia.org/wiki/Spinal_tumor Intraspinal tumor NCI2004_11_17:C3382 malignant tumor of the Spinal Cord NCI2004_11_17:C3572 tumor of the Spinal Cord NCI2004_11_17:C3381 anaplastic (malignant) meningioma malignant meningioma (morphologic abnormality) meningioma, malignant (morphologic abnormality) disease_ontology DOID:5613 anaplastic meningioma true anaplastic (malignant) meningioma NCI2004_11_17:C4051 malignant meningioma (morphologic abnormality) SNOMEDCT_2005_07_31:134174002 meningioma, malignant (morphologic abnormality) SNOMEDCT_2005_07_31:78303004 An eye and adnexa disease that is located_in the eye. DOID:2933 ICD10CM:H44 ICD10CM:H44.9 ICD9CM:360 ICD9CM:360.9 ICD9CM:379.90 MESH:D005128 NCI:C26767 SNOMEDCT_US_2016_03_01:111509007 SNOMEDCT_US_2016_03_01:155101007 SNOMEDCT_US_2016_03_01:155198005 SNOMEDCT_US_2016_03_01:193265001 SNOMEDCT_US_2016_03_01:193266000 SNOMEDCT_US_2016_03_01:193316008 SNOMEDCT_US_2016_03_01:194183009 SNOMEDCT_US_2016_03_01:264555006 SNOMEDCT_US_2016_03_01:366261005 SNOMEDCT_US_2016_03_01:371405004 SNOMEDCT_US_2016_03_01:371409005 SNOMEDCT_US_2016_03_01:79517001 UMLS_CUI:C0015397 disease_ontology DOID:5614 eye disease An eye and adnexa disease that is located_in the eye. url:http://en.wikipedia.org/wiki/Eye_disease NCI:C5135 UMLS_CUI:C1334255 Intradural Extramedullary Spinal tumors disease_ontology DOID:5615 spinal canal intradural extramedullary neoplasm Intradural Extramedullary Spinal tumors NCI2004_11_17:C5135 epithelial Dysplasia epithelial dysplasia (morphologic abnormality) disease_ontology DOID:5616 intraepithelial neoplasm true epithelial Dysplasia NCI2004_11_17:C8366 epithelial dysplasia (morphologic abnormality) SNOMEDCT_2005_07_31:61313004 NCI:C27598 SNOMEDCT_US_2016_03_01:230531004 SNOMEDCT_US_2016_03_01:60750009 UMLS_CUI:C0271353 Oculomotor nerve disorder Third cranial nerve disease (disorder) disorder of oculomotor nerve disease_ontology DOID:562 third cranial nerve disease Oculomotor nerve disorder NCI2004_11_17:C27598 Third cranial nerve disease (disorder) SNOMEDCT_2005_07_31:60750009 disorder of oculomotor nerve SNOMEDCT_2005_07_31:230531004 A sarcoma and hematologic cancer that derives_from follicular lymphoma. NCI:C9294 UMLS_CUI:C1334030 disease_ontology histiocytic and dendritic cell DOID:5621 histiocytic and dendritic cell cancer A sarcoma and hematologic cancer that derives_from follicular lymphoma. url:http://www.springerlink.com/content/h9wrn7p72x26q035/ disease_ontology DOID:5622 Major puerperal infectious disease true NCI:C40361 UMLS_CUI:C1510796 disease_ontology DOID:5623 adenosquamous breast carcinoma A bile duct carcinoma that derives_from squamous cells and gland-like cells. NCI:C5778 UMLS_CUI:C0861854 bile duct Adenosquamous carcinoma disease_ontology DOID:5624 adenosquamous bile duct carcinoma A bile duct carcinoma that derives_from squamous cells and gland-like cells. url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma bile duct Adenosquamous carcinoma NCI2004_11_17:C5778 An esophageal carcinoma that derives_from squamous cells and gland-like cells. NCI:C27421 disease_ontology DOID:5625 esophageal adenosquamous carcinoma An esophageal carcinoma that derives_from squamous cells and gland-like cells. url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma A thymic carcinoma that derives_from squamous cells and gland-like cells. NCI:C6458 UMLS_CUI:C1332171 Adenosquamous carcinoma of the Thymus disease_ontology DOID:5626 thymus adenosquamous carcinoma A thymic carcinoma that derives_from squamous cells and gland-like cells. url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma Adenosquamous carcinoma of the Thymus NCI2004_11_17:C6458 A gallbladder carcinoma that derives_from squamous cells and gland-like cells. NCI:C7356 UMLS_CUI:C1333741 Adenosquamous carcinoma of the gallbladder disease_ontology adenosquamous carcinoma of gallbladder DOID:5627 adenosquamous gallbladder carcinoma A gallbladder carcinoma that derives_from squamous cells and gland-like cells. url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma Adenosquamous carcinoma of the gallbladder NCI2004_11_17:C7356 An ampulla of Vater carcinoma that derives_from squamous cells and gland-like cells. NCI:C27418 UMLS_CUI:C1332245 disease_ontology DOID:5628 ampulla of Vater adenosquamous carcinoma An ampulla of Vater carcinoma that derives_from squamous cells and gland-like cells. url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma A colon carcinoma that derives_from squamous cells and gland-like cells. NCI:C5491 UMLS_CUI:C1333082 Colonic Adenosquamous carcinoma disease_ontology adenosquamous carcinoma of colon DOID:5629 adenosquamous colon carcinoma A colon carcinoma that derives_from squamous cells and gland-like cells. url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma Colonic Adenosquamous carcinoma NCI2004_11_17:C5491 disease_ontology DOID:563 primary Fusobacteriaceae infectious disease true A Bartholin's gland carcinoma that derives_from squamous cells and gland-like cells. NCI:C40296 UMLS_CUI:C1511050 Bartholin gland adenosquamous carcinoma disease_ontology DOID:5630 Bartholin's gland adenosquamous carcinoma A Bartholin's gland carcinoma that derives_from squamous cells and gland-like cells. url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma An endometrial carcinoma that derives_from squamous cells and gland-like cells. Adenosquamous carcinoma of Endometrium disease_ontology DOID:5631 endometrial adenosquamous carcinoma An endometrial carcinoma that derives_from squamous cells and gland-like cells. url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma Adenosquamous carcinoma of Endometrium NCI2004_11_17:C6290 NCI:C4538 SNOMEDCT_US_2016_03_01:254978007 UMLS_CUI:C0346328 meningioma of optic nerve sheath (disorder) optic nerve Sheath meningioma disease_ontology DOID:5632 optic nerve sheath meningioma meningioma of optic nerve sheath (disorder) SNOMEDCT_2005_07_31:254978007 optic nerve Sheath meningioma NCI2004_11_17:C4538 meningioma of the optic tract disease_ontology DOID:5633 visual pathway meningioma true meningioma of the optic tract NCI2004_11_17:C5587 A prostate carcinoma that derives_from squamous cells and gland-like cells. NCI:C5538 UMLS_CUI:C1335503 Adenosquamous carcinoma of the prostate disease_ontology adenosquamous carcinoma of prostate DOID:5634 adenosquamous prostate carcinoma A prostate carcinoma that derives_from squamous cells and gland-like cells. url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma Adenosquamous carcinoma of the prostate NCI2004_11_17:C5538 NCI:C5474 UMLS_CUI:C1333761 Adenosquamous carcinoma of stomach disease_ontology DOID:5635 gastric adenosquamous carcinoma Adenosquamous carcinoma of stomach NCI2004_11_17:C5474 A cervical carcinoma that derives_from squamous cells and gland-like cells. NCI:C4519 SNOMEDCT_US_2016_03_01:254888007 UMLS_CUI:C0346202 Adenosquamous carcinoma of cervix (disorder) Adenosquamous cell carcinoma of the Cervix Uteri disease_ontology DOID:5636 cervical adenosquamous carcinoma A cervical carcinoma that derives_from squamous cells and gland-like cells. url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma Adenosquamous carcinoma of cervix (disorder) SNOMEDCT_2005_07_31:254888007 Adenosquamous cell carcinoma of the Cervix Uteri NCI2004_11_17:C4519 A pancreatic ductal carcinoma that derives_from squamous cells and gland-like cells. NCI:C5721 UMLS_CUI:C1335299 Adenosquamous carcinoma of pancreas disease_ontology adenosquamous carcinoma of the pancreas DOID:5637 adenosquamous pancreas carcinoma A pancreatic ductal carcinoma that derives_from squamous cells and gland-like cells. url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma Adenosquamous carcinoma of pancreas NCI2004_11_17:C5721 NCI:C8380 SNOMEDCT_US_2016_03_01:48460009 UMLS_CUI:C0334554 malignant Giant cell neoplasm of soft Parts malignant giant cell tumor of soft parts (morphologic abnormality) disease_ontology DOID:5638 malignant giant cell tumor of soft parts malignant Giant cell neoplasm of soft Parts NCI2004_11_17:C8380 malignant giant cell tumor of soft parts (morphologic abnormality) SNOMEDCT_2005_07_31:48460009 NCI:C39955 UMLS_CUI:C1514912 disease_ontology DOID:5639 rete testis neoplasm NCI:C27216 UMLS_CUI:C0865849 disease_ontology DOID:5641 diffuse pulmonary fibrosis NCI:C27103 SNOMEDCT_US_2016_03_01:233726000 UMLS_CUI:C0340127 disease_ontology DOID:5642 localized pulmonary fibrosis NCI:C39872 UMLS_CUI:C1519828 disease_ontology DOID:5643 urethral villous adenoma MESH:D014263 SNOMEDCT_US_2016_03_01:253383003 UMLS_CUI:C0040962 disease_ontology DOID:5644 tricuspid valve prolapse A choroid plexus cancer that has_material_basis_in epithelial cells of the choroid plexus. DOID:5647 MESH:C562943 NCI:C4533 NCI:C4715 SNOMEDCT_US_2016_03_01:188292007 SNOMEDCT_US_2016_03_01:88252006 UMLS_CUI:C0346289 UMLS_CUI:C0431109 Choroid plexus carcinoma (morphologic abnormality) cancer of Choroid Plexus malignant neoplasm of choroid plexus malignant neoplasm of the Choroid Plexus malignant tumor of choroid plexus (disorder) disease_ontology malignant tumor of choroid plexus DOID:5648 choroid plexus carcinoma A choroid plexus cancer that has_material_basis_in epithelial cells of the choroid plexus. url:http://en.wikipedia.org/wiki/Carcinoma url:http://en.wikipedia.org/wiki/Choroid_plexus_carcinoma url:http://www.cancer.gov/dictionary?CdrID=45963 Choroid plexus carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:88252006 cancer of Choroid Plexus NCI2004_11_17:C4715 malignant neoplasm of choroid plexus MTHICD9_2006:191.5 malignant neoplasm of the Choroid Plexus NCI2004_11_17:C4533 malignant tumor of choroid plexus (disorder) SNOMEDCT_2005_07_31:188292007 solid carcinoma NOS (morphologic abnormality) solid carcinoma with mucin formation disease_ontology DOID:5649 solid carcinoma true solid carcinoma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189606002 solid carcinoma with mucin formation SNOMEDCT_2005_07_31:81920005 ICD9CM:386.54 SNOMEDCT_US_2016_03_01:194375009 SNOMEDCT_US_2016_03_01:71682006 UMLS_CUI:C0155518 Bilateral hypoactive labyrinth (disorder) Hypoactive bilateral labyrinthine dysfunction (disorder) Hypoactive labyrinth, bilateral disease_ontology DOID:565 bilateral hypoactive labyrinth Bilateral hypoactive labyrinth (disorder) SNOMEDCT_2005_07_31:71682006 Hypoactive bilateral labyrinthine dysfunction (disorder) SNOMEDCT_2005_07_31:194375009 Hypoactive labyrinth, bilateral ICD9CM_2006:386.54 A carcinoma that results from uncontrolled proliferation of transformed cells of epithelial origin, which has no epithelial structural differentiation. anaplastic carcinoma carcinoma, anaplastic (morphologic abnormality) carcinoma, anaplastic type, NOS (morphologic abnormality) disease_ontology DOID:5651 anaplastic carcinoma true A carcinoma that results from uncontrolled proliferation of transformed cells of epithelial origin, which has no epithelial structural differentiation. url:http://en.wikipedia.org/wiki/Anaplastic_carcinoma url:http://www.mondofacto.com/facts/dictionary?anaplastic+carcinoma anaplastic carcinoma NCI2004_11_17:C3690 carcinoma, anaplastic (morphologic abnormality) SNOMEDCT_2005_07_31:58248003 carcinoma, anaplastic type, NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189553008 Metaplastic carcinoma (morphologic abnormality) disease_ontology DOID:5652 metaplastic carcinoma true Metaplastic carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:128705006 An optic nerve disease that is characterized by lesions of the optic chiasm, manifesting as various impairments of the sufferer's visual field according to the location of the lesion along the optic nerve. ICD10CM:H47.4 ICD9CM:377.5 SNOMEDCT_US_2016_03_01:194061008 SNOMEDCT_US_2016_03_01:70476006 UMLS_CUI:C0155307 chiasma syndrome disorder of optic chiasm disease_ontology DOID:5655 chiasmal syndrome An optic nerve disease that is characterized by lesions of the optic chiasm, manifesting as various impairments of the sufferer's visual field according to the location of the lesion along the optic nerve. url:https://en.wikipedia.org/wiki/Chiasmal_syndrome disorder of optic chiasm ICD9CM_2006:377.5 A neuropathy that is located_in one of the twelve cranial nerves. ICD10CM:G52.9 ICD9CM:352.9 MESH:D003389 NCI:C26733 SNOMEDCT_US_2016_03_01:193104009 SNOMEDCT_US_2016_03_01:267598004 SNOMEDCT_US_2016_03_01:267709002 SNOMEDCT_US_2016_03_01:276379008 SNOMEDCT_US_2016_03_01:73013002 UMLS_CUI:C0010266 Cranial nerve disorder disorder of cranial nerve disease_ontology DOID:5656 cranial nerve disease A neuropathy that is located_in one of the twelve cranial nerves. url:http://en.wikipedia.org/wiki/Cranial_nerve_disease url:http://www.ncbi.nlm.nih.gov/mesh/68003389 Cranial nerve disorder NCI2004_11_17:C26733 disorder of cranial nerve SNOMEDCT_2005_07_31:276379008 NCI:C4152 SNOMEDCT_US_2016_03_01:189655006 SNOMEDCT_US_2016_03_01:3839000 UMLS_CUI:C0334318 Lipid-rich carcinoma Lipid-rich carcinoma (morphologic abnormality) disease_ontology DOID:5658 lipid-rich carcinoma Lipid-rich carcinoma SNOMEDCT_2005_07_31:189655006 Lipid-rich carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:3839000 A carcinoma that results_in a lesion that breaks through the boundary located_in the duct or located_in the lobule. disease_ontology DOID:5659 invasive carcinoma true A carcinoma that results_in a lesion that breaks through the boundary located_in the duct or located_in the lobule. url:http://www.partnershipforbreastcare.org/pbc/problems/pathology/invasive.aspx ICD10CM:H83.2 ICD10CM:H83.2X ICD10CM:H83.2X9 ICD9CM:386.5 ICD9CM:386.50 SNOMEDCT_US_2016_03_01:194371000 SNOMEDCT_US_2016_03_01:194378006 SNOMEDCT_US_2016_03_01:5239005 UMLS_CUI:C0155514 disease_ontology DOID:566 labyrinthine dysfunction A carcinoma that is a malignant epithelial neoplasm densely infiltrated by lymphoid cells. NCI:C4107 SNOMEDCT_US_2016_03_01:7300000 UMLS_CUI:C0334254 Lymphoepithelioma-like carcinoma Nasopharyngeal type Undifferentiated carcinoma lymphoepithelial carcinoma disease_ontology DOID:5660 lymphoepithelioma-like carcinoma A carcinoma that is a malignant epithelial neoplasm densely infiltrated by lymphoid cells. url:http://www.najms.org/resources/PDF++375-376+Lymphoepithelioma+like+carcinoma.pdf Lymphoepithelioma-like carcinoma NCI2004_11_17:C27387 Lymphoepithelioma-like carcinoma SNOMEDCT_2005_07_31:7300000 Nasopharyngeal type Undifferentiated carcinoma NCI2004_11_17:C4107 A carcinoma that is consisting of spindle or giant cells (or both) combined with squamous cell carcinoma, adenocarcinoma, or large-cell carcinoma. NCI:C4094 SNOMEDCT_US_2016_03_01:16741004 UMLS_CUI:C0334233 Pleomorphic carcinoma (morphologic abnormality) disease_ontology DOID:5662 pleomorphic carcinoma A carcinoma that is consisting of spindle or giant cells (or both) combined with squamous cell carcinoma, adenocarcinoma, or large-cell carcinoma. url:http://ats.ctsnetjournals.org/cgi/content/full/78/5/1742 Pleomorphic carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:16741004 disease_ontology DOID:5663 helicobacter pylori-related carcinoma true NCI:C4653 SNOMEDCT_US_2016_03_01:277156006 UMLS_CUI:C0349576 malignant neoplasm of the External ear malignant tumor of external ear (disorder) disease_ontology DOID:5665 external ear cancer malignant neoplasm of the External ear NCI2004_11_17:C4653 malignant tumor of external ear (disorder) SNOMEDCT_2005_07_31:277156006 NCI:C6938 SNOMEDCT_US_2016_03_01:254707006 SNOMEDCT_US_2016_03_01:254708001 SNOMEDCT_US_2016_03_01:32272007 UMLS_CUI:C1412016 carcinoma of the Sweat gland disease_ontology DOID:5667 sweat gland carcinoma carcinoma of the Sweat gland NCI2004_11_17:C6938 A carcinoma that is in situ. NCI:C4188 SNOMEDCT_US_2016_03_01:189709000 SNOMEDCT_US_2016_03_01:36425007 UMLS_CUI:C0334370 Comedocarcinoma disease_ontology DOID:5670 comedo carcinoma A carcinoma that is in situ. url:http://www.cancer.gov/dictionary/?CdrID=44330 Comedocarcinoma SNOMEDCT_2005_07_31:36425007 An intestinal cancer that effects the long, tube-like organ that is connected to the small intestine at one end and the anus at the other. DOID:1994 DOID:1997 ICD10CM:C18.9 MESH:D015179 NCI:C2955 NCI:C4978 NCI:C5105 SNOMEDCT_US_2016_03_01:363510005 SNOMEDCT_US_2016_03_01:408645001 SNOMEDCT_US_2016_03_01:93854002 UMLS_CUI:C0009402 UMLS_CUI:C0346629 UMLS_CUI:C1319315 disease_ontology DOID:5672 large intestine cancer An intestinal cancer that effects the long, tube-like organ that is connected to the small intestine at one end and the anus at the other. url:http://en.wikipedia.org/wiki/Large_intestine MESH:D000230 NCI:C3680 SNOMEDCT_US_2016_03_01:30156004 UMLS_CUI:C0205643 Cribriform carcinoma ductal carcinoma, cribriform type disease_ontology DOID:5675 cribriform carcinoma Cribriform carcinoma NCI2004_11_17:C3680 ductal carcinoma, cribriform type SNOMEDCT_2005_07_31:30156004 An extragonadal germ cell cancer that are located_in the pineal gland in the brain, located_in the mediastinum or located_in the abdomen. NCI:C8885 UMLS_CUI:C1334582 primary malignant Extragonadal Nonseminoma disease_ontology DOID:5677 extragonadal nonseminomatous germ cell tumor An extragonadal germ cell cancer that are located_in the pineal gland in the brain, located_in the mediastinum or located_in the abdomen. url:http://en.wikipedia.org/wiki/Germ_cell_tumor#Nongerminomatous url:http://rarediseases.info.nih.gov/gard/10165/nonseminomatous-germ-cell-tumor/resources/1 primary malignant Extragonadal Nonseminoma NCI2004_11_17:C8885 ICD9CM:362.85 SNOMEDCT_US_2016_03_01:87194000 UMLS_CUI:C0474334 Retinal nerve fiber bundle defects Retinal nerve fiber bundle deficiency disease_ontology DOID:5678 nerve fibre bundle defect Retinal nerve fiber bundle defects ICD9CM_2006:362.85 Retinal nerve fiber bundle deficiency SNOMEDCT_2005_07_31:193428001 An eye disease that is located_in the retina. ICD10CM:H35.9 ICD9CM:362.9 MESH:D012164 NCI:C26875 NCI:C62601 SNOMEDCT_US_2016_03_01:193430004 SNOMEDCT_US_2016_03_01:267715002 SNOMEDCT_US_2016_03_01:29555009 SNOMEDCT_US_2016_03_01:35426003 SNOMEDCT_US_2016_03_01:399625000 UMLS_CUI:C0035309 disease_ontology DOID:5679 retinal disease An eye disease that is located_in the retina. url:http://en.wikipedia.org/wiki/Retina#Diseases_and_disorders An embryonal carcinoma that is located_in the testis. NCI:C6341 UMLS_CUI:C0238448 Embryonal carcinoma of testis testicular embryonal carcinoma disease_ontology embryonal carcinoma of the testis DOID:5680 embryonal testis carcinoma An embryonal carcinoma that is located_in the testis. url:http://en.wikipedia.org/wiki/Embryonal_carcinoma#Testicular_embryonal_carcinoma Embryonal carcinoma of testis NCI2004_11_17:C6341 An embryonal carcinoma that is located_in the ovary. NCI:C8108 SNOMEDCT_US_2016_03_01:254872007 UMLS_CUI:C0346183 Embryonal carcinoma of ovary (disorder) Embryonal carcinoma of the Ovary disease_ontology DOID:5681 ovarian embryonal carcinoma An embryonal carcinoma that is located_in the ovary. url:http://en.wikipedia.org/wiki/Embryonal_carcinoma#Ovarian_embryonal_carcinoma Embryonal carcinoma of ovary (disorder) SNOMEDCT_2005_07_31:254872007 Embryonal carcinoma of the Ovary NCI2004_11_17:C8108 An autosomal dominant disease characterized by the higher than normal tendency to develop breast and ovarian cancers in genetically related families. MESH:D061325 NCI:C8493 OMIM:604370 OMIM:612555 OMIM:613399 OMIM:614291 UMLS_CUI:C0677776 disease_ontology DOID:5683 Xref MGI. hereditary breast ovarian cancer An autosomal dominant disease characterized by the higher than normal tendency to develop breast and ovarian cancers in genetically related families. url:http://en.wikipedia.org/wiki/Hereditary_breast%E2%80%93ovarian_cancer_syndrome url:http://www.cancer.gov/cancertopics/pdq/genetics/breast-and-ovarian/HealthProfessional/page1 A spondyloepimetaphyseal dysplasia that is characterized by spondylar and nasal changes, with striations of the metaphyses that has_material_basis_in autosomal recessive inheritance. NCI:C92206 OMIM:271510 UMLS_CUI:C0920349 Spondylar and nasal Alterations-Striated Metaphyses syndrome sponastrime dysplasia disease_ontology DOID:5684 spondyloepimetaphyseal dysplasia, Sponastrime type A spondyloepimetaphyseal dysplasia that is characterized by spondylar and nasal changes, with striations of the metaphyses that has_material_basis_in autosomal recessive inheritance. url:http://omim.org/entry/271510 url:http://www.ncbi.nlm.nih.gov/pubmed/10797420 Spondylar and nasal Alterations-Striated Metaphyses syndrome NCI2004_11_17:C3034 disease_ontology DOID:5687 flat adenoma syndrome true An autosomal recessive disease characterized by premature aging and age-related phenotypes such as atherosclerosis, arteriosclerosis, cataracts, osteoporosis, soft tissue calcification, premature thinning, graying, and loss of hair, as well as a high incidence of some types of cancers. In 90% of the cases it is that has material basis in mutations in the WRN gene, on chromosome 8. MESH:D014898 NCI:C3447 OMIM:277700 ORDO:902 SNOMEDCT_US_2016_03_01:190590004 SNOMEDCT_US_2016_03_01:190592007 SNOMEDCT_US_2016_03_01:51626007 UMLS_CUI:C0043119 WS Werner's syndrome adult premature ageing syndrome adult progeria disease_ontology DOID:5688 OMIM mapping confirmed by DO. [LS]. Werner syndrome An autosomal recessive disease characterized by premature aging and age-related phenotypes such as atherosclerosis, arteriosclerosis, cataracts, osteoporosis, soft tissue calcification, premature thinning, graying, and loss of hair, as well as a high incidence of some types of cancers. In 90% of the cases it is that has material basis in mutations in the WRN gene, on chromosome 8. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=15946710 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=9288107 url:https://en.wikipedia.org/wiki/Werner_syndrome WS NCI2004_11_17:C3447 Werner's syndrome SNOMEDCT_2005_07_31:190592007 adult premature ageing syndrome SNOMEDCT_2005_07_31:190590004 adult progeria CSP2005:1849-9804 NCI:C4250 SNOMEDCT_US_2016_03_01:28655007 UMLS_CUI:C1370889 Liposarcoma, well differentiated (morphologic abnormality) disease_ontology DOID:5690 atypical lipomatous tumor Liposarcoma, well differentiated (morphologic abnormality) SNOMEDCT_2005_07_31:28655007 ICD10CM:H47.6 ICD9CM:377.7 NCI:C35275 SNOMEDCT_US_2016_03_01:128329001 SNOMEDCT_US_2016_03_01:194071005 SNOMEDCT_US_2016_03_01:86492004 UMLS_CUI:C0234398 visual cortex dysfunction disease_ontology DOID:5691 visual cortex disease visual cortex dysfunction SNOMEDCT_2005_07_31:86492004 NCI:C4252 SNOMEDCT_US_2016_03_01:404070007 SNOMEDCT_US_2016_03_01:43296007 UMLS_CUI:C0334471 Round cell liposarcoma (disorder) Round cell liposarcoma (morphologic abnormality) disease_ontology DOID:5692 cellular myxoid liposarcoma Round cell liposarcoma (disorder) SNOMEDCT_2005_07_31:404070007 Round cell liposarcoma (morphologic abnormality) SNOMEDCT_2005_07_31:43296007 NCI:C7811 UMLS_CUI:C0278608 disease_ontology DOID:5693 adult liposarcoma NCI:C5705 UMLS_CUI:C1333456 Liposarcoma of esophagus disease_ontology DOID:5694 esophagus liposarcoma Liposarcoma of esophagus NCI2004_11_17:C5705 NCI:C8091 UMLS_CUI:C0279984 disease_ontology DOID:5695 pediatric liposarcoma A liposarcoma that is located_in the larynx. NCI:C6021 UMLS_CUI:C1334372 Liposarcoma of Larynx disease_ontology DOID:5696 larynx liposarcoma A liposarcoma that is located_in the larynx. url:http://www.springerlink.com/content/k571r5t8637pg5p5/ Liposarcoma of Larynx NCI2004_11_17:C6021 NCI:C6419 UMLS_CUI:C1335165 Liposarcoma of Ovary disease_ontology DOID:5697 liposarcoma of the ovary Liposarcoma of Ovary NCI2004_11_17:C6419 NCI:C6509 SNOMEDCT_US_2016_03_01:128883006 UMLS_CUI:C1266130 Fibroblastic Liposarcoma Fibroblastic liposarcoma (morphologic abnormality) disease_ontology DOID:5698 fibroblastic liposarcoma Fibroblastic Liposarcoma NCI2004_11_17:C6509 Fibroblastic liposarcoma (morphologic abnormality) SNOMEDCT_2005_07_31:128883006 A liposarcoma that is located_in the kidney. NCI:C6185 UMLS_CUI:C1335745 Liposarcoma of kidney disease_ontology DOID:5699 kidney liposarcoma A liposarcoma that is located_in the kidney. url:http://emedicine.medscape.com/article/391272-overview Liposarcoma of kidney NCI2004_11_17:C6185 An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle. DOID:54 DOID:55 ICD10CM:I06.1 ICD9CM:395.1 ICD9CM:396.3 MESH:D001022 NCI:C50861 NCI:C51223 SNOMEDCT_US_2016_03_01:155283004 SNOMEDCT_US_2016_03_01:194736003 SNOMEDCT_US_2016_03_01:60234000 SNOMEDCT_US_2016_03_01:78031003 UMLS_CUI:C0003504 UMLS_CUI:C0155568 UMLS_CUI:C0264774 Rheumatic aortic insufficiency Rheumatic aortic regurgitation Rheumatic aortic valve regurgitation aortic incompetence aortic insufficiency aortic regurgitation rheumatic aortic valve insufficiency disease_ontology Corrigan's disease DOID:57 aortic valve insufficiency An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle. url:http://en.wikipedia.org/wiki/Aortic_insufficiency Rheumatic aortic insufficiency ICD9CM_2006:395.1 Rheumatic aortic regurgitation SNOMEDCT_2005_07_31:155283004 Rheumatic aortic valve regurgitation MTHICD9_2006:395.1 aortic regurgitation CSP2005:1393-3890 NCI:C5488 UMLS_CUI:C1333778 Liposarcoma of the stomach disease_ontology DOID:5700 gastric liposarcoma Liposarcoma of the stomach NCI2004_11_17:C5488 NCI:C5187 UMLS_CUI:C1332632 Liposarcoma of the breast disease_ontology DOID:5701 breast liposarcoma Liposarcoma of the breast NCI2004_11_17:C5187 MESH:D008080 NCI:C3705 SNOMEDCT_US_2016_03_01:112683004 SNOMEDCT_US_2016_03_01:404071006 UMLS_CUI:C0205825 Pleomorphic Liposarcoma Pleomorphic liposarcoma (disorder) Pleomorphic liposarcoma (morphologic abnormality) disease_ontology DOID:5702 pleomorphic liposarcoma Pleomorphic Liposarcoma NCI2004_11_17:C3705 Pleomorphic liposarcoma (disorder) SNOMEDCT_2005_07_31:404071006 Pleomorphic liposarcoma (morphologic abnormality) SNOMEDCT_2005_07_31:112683004 NCI:C4253 SNOMEDCT_US_2016_03_01:11073003 UMLS_CUI:C0334472 mixed liposarcoma (morphologic abnormality) disease_ontology DOID:5703 mixed liposarcoma mixed liposarcoma (morphologic abnormality) SNOMEDCT_2005_07_31:11073003 NCI:C6507 SNOMEDCT_US_2016_03_01:28655007 SNOMEDCT_US_2016_03_01:404068003 UMLS_CUI:C0334469 disease_ontology DOID:5704 sclerosing liposarcoma NCI:C27489 SNOMEDCT_US_2016_03_01:404073009 UMLS_CUI:C1275275 disease_ontology DOID:5705 spindle cell liposarcoma Non-metastatic Liposarcoma disease_ontology DOID:5707 liposarcoma nonmetastatic true Non-metastatic Liposarcoma NCI2004_11_17:C8817 disease_ontology DOID:5708 liposarcoma metastatic true NCI:C27781 UMLS_CUI:C0545074 disease_ontology DOID:5709 mixed-type liposarcoma ICD10CM:G56.1 ICD10CM:G56.10 ICD9CM:354.1 SNOMEDCT_US_2016_03_01:193127001 SNOMEDCT_US_2016_03_01:194512000 UMLS_CUI:C0154742 disease_ontology DOID:571 median neuropathy relapsed Liposarcoma disease_ontology DOID:5710 liposarcoma recurrent true relapsed Liposarcoma NCI2004_11_17:C8818 NCI:C40321 disease_ontology DOID:5711 vulvar liposarcoma NCI:C5615 UMLS_CUI:C1333175 Liposarcoma of the skin disease_ontology DOID:5712 cutaneous liposarcoma Liposarcoma of the skin NCI2004_11_17:C5615 A liposarcoma and mediastinum sarcoma that is located_in the mediastinum. NCI:C6614 UMLS_CUI:C1334663 Liposarcoma of mediastinum disease_ontology DOID:5713 mediastinum liposarcoma A liposarcoma and mediastinum sarcoma that is located_in the mediastinum. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2222671/ Liposarcoma of mediastinum NCI2004_11_17:C6614 NCI:C6973 UMLS_CUI:C1334242 disease_ontology DOID:5714 intracranial liposarcoma NCI:C4009 NCI:C4348 SNOMEDCT_US_2016_03_01:254962005 UMLS_CUI:C0338078 Non-Functioning neoplasm of the Pituitary Non-Secretory adenoma of the Pituitary gland disease_ontology DOID:5715 functionless pituitary adenoma Non-Functioning neoplasm of the Pituitary NCI2004_11_17:C4009 Non-Secretory adenoma of the Pituitary gland NCI2004_11_17:C4348 DOID:6254 NCI:C7047 NCI:C7911 UMLS_CUI:C0278864 UMLS_CUI:C0851693 Pituitary tumors, Hormone Producing Somatotropinoma growth hormone producing pituitary tumor disease_ontology DOID:5716 hormone producing pituitary cancer Pituitary tumors, Hormone Producing NCI2004_11_17:C7047 Somatotropinoma NCI2004_11_17:C7911 relapsed tumor of Pituitary disease_ontology DOID:5717 recurrent pituitary tumor true relapsed tumor of Pituitary NCI2004_11_17:C7912 An adrenal gland cancer that derives_from immature neuroblastic cells. NCI:C4827 SNOMEDCT_US_2016_03_01:281562007 UMLS_CUI:C0559460 neuroblastoma of Adrenal gland disease_ontology DOID:5718 adrenal neuroblastoma An adrenal gland cancer that derives_from immature neuroblastic cells. url:http://en.wikipedia.org/wiki/Adrenal_tumor#Neuroblastoma url:http://www.cancer.gov/cancertopics/types/neuroblastoma neuroblastoma of Adrenal gland NCI2004_11_17:C4827 An adrenal gland cancer that is located_in the adrenal medulla. DOID:662 ICD10CM:C74.1 NCI:C4396 NCI:C4856 SNOMEDCT_US_2016_03_01:127023007 SNOMEDCT_US_2016_03_01:363480001 SNOMEDCT_US_2016_03_01:371965009 SNOMEDCT_US_2016_03_01:93666006 UMLS_CUI:C0344456 UMLS_CUI:C0596046 adrenal medulla neoplasm adrenal medulla tumor malignant neoplasm of adrenal medulla malignant tumor of the Adrenal Medulla disease_ontology DOID:5719 adrenal medulla cancer An adrenal gland cancer that is located_in the adrenal medulla. url:http://en.wikipedia.org/wiki/Adrenal_tumor#Tumors_of_the_Adrenal_Medulla adrenal medulla neoplasm CSP2005:2009-6219 malignant neoplasm of adrenal medulla MTHICD9_2006:194.0 malignant tumor of the Adrenal Medulla NCI2004_11_17:C4396 ICD9CM:354 SNOMEDCT_US_2016_03_01:155072002 SNOMEDCT_US_2016_03_01:193125009 UMLS_CUI:C0154741 disease_ontology DOID:572 mononeuritis of upper limb and mononeuritis multiplex Neuroblastomas of Adrenal gland and Sympathetic nervous system disease_ontology DOID:5720 neuroblastomas of the adrenal gland and sympathetic nervous system true Neuroblastomas of Adrenal gland and Sympathetic nervous system NCI2004_11_17:C6964 ICD10CM:H47.2 ICD10CM:H47.20 ICD9CM:377.1 ICD9CM:377.10 MESH:D009896 NCI:C34863 OMIM:165300 OMIM:165500 OMIM:258500 OMIM:311050 OMIM:605293 OMIM:610708 ORDO:98673 SNOMEDCT_US_2016_03_01:155188004 SNOMEDCT_US_2016_03_01:194042009 SNOMEDCT_US_2016_03_01:194046007 SNOMEDCT_US_2016_03_01:267742001 SNOMEDCT_US_2016_03_01:76976005 UMLS_CUI:C0029124 atrophy of optic disc disease_ontology DOID:5723 Xref MGI. optic atrophy NCI:C39907 UMLS_CUI:C1519234 disease_ontology DOID:5724 seminal vesicle cystadenoma NCI:C40019 UMLS_CUI:C1514907 disease_ontology DOID:5725 rete ovarii cystadenoma NCI:C40142 UMLS_CUI:C3642324 disease_ontology DOID:5726 uterine ligament papillary cystadenoma NCI:C40133 UMLS_CUI:C1519870 tumor of the uterine Ligament disease_ontology DOID:5727 uterine ligament cancer tumor of the uterine Ligament NCI2004_11_17:C40133 NCI:C3958 SNOMEDCT_US_2016_03_01:62557001 SNOMEDCT_US_2016_03_01:703634007 UMLS_CUI:C0267785 leiomyomatosis peritonealis disseminata (disorder) disease_ontology DOID:5728 diffuse peritoneal leiomyomatosis leiomyomatosis peritonealis disseminata (disorder) SNOMEDCT_2005_07_31:62557001 NCI:C4518 NCI:C5356 SNOMEDCT_US_2016_03_01:254883003 UMLS_CUI:C0346200 Intravenous leiomyomatosis Intravenous leiomyomatosis (disorder) disease_ontology DOID:5729 intravenous leiomyomatosis Intravenous leiomyomatosis NCI2004_11_17:C4518 Intravenous leiomyomatosis (disorder) SNOMEDCT_2005_07_31:254883003 DOID:7318 MESH:D009408 NCI:C27221 SNOMEDCT_US_2016_03_01:155085004 SNOMEDCT_US_2016_03_01:45781009 UMLS_CUI:C0027743 UMLS_CUI:C1510429 Compression neuropathy Entrapment Neuropathy entrapment neuropathy peripheral nerve entrapment syndrome disease_ontology DOID:573 nerve compression syndrome Compression neuropathy SNOMEDCT_2005_07_31:155085004 Entrapment Neuropathy NCI2004_11_17:C27221 peripheral nerve entrapment syndrome SNOMEDCT_2005_07_31:45781009 NCI:C40119 SNOMEDCT_US_2016_03_01:36742000 UMLS_CUI:C0269043 disease_ontology DOID:5730 salpingitis isthmica nodosa ICD10CM:N70.11 NCI:C40118 SNOMEDCT_US_2016_03_01:55551005 UMLS_CUI:C0269041 disease_ontology DOID:5731 chronic salpingitis ICD10CM:N70 NCI:C34968 SNOMEDCT_US_2016_03_01:155974004 SNOMEDCT_US_2016_03_01:266651008 SNOMEDCT_US_2016_03_01:35263009 SNOMEDCT_US_2016_03_01:397810006 SNOMEDCT_US_2016_03_01:9400007 UMLS_CUI:C0034220 Pyosalpingitis disease_ontology DOID:5732 pyosalpinx Pyosalpingitis SNOMEDCT_2005_07_31:9400007 ICD10CM:N70.91 MESH:D012488 NCI:C26880 SNOMEDCT_US_2016_03_01:155968004 SNOMEDCT_US_2016_03_01:198151009 SNOMEDCT_US_2016_03_01:266648001 SNOMEDCT_US_2016_03_01:88157006 UMLS_CUI:C0036130 disease_ontology DOID:5733 salpingitis disease_ontology DOID:5738 secondary myelofibrosis true A nervous system disease that affects the peripheral nervous system. DOID:13069 ICD10CM:G64 ICD9CM:350-359.99 MESH:D010523 NCI:C119734 NCI:C27580 NCI:C27587 SNOMEDCT_US_2016_03_01:155064004 SNOMEDCT_US_2016_03_01:155080009 SNOMEDCT_US_2016_03_01:155100008 SNOMEDCT_US_2016_03_01:193088006 SNOMEDCT_US_2016_03_01:193264002 SNOMEDCT_US_2016_03_01:264554005 SNOMEDCT_US_2016_03_01:267706009 SNOMEDCT_US_2016_03_01:302226006 SNOMEDCT_US_2016_03_01:42658009 UMLS_CUI:C0031117 UMLS_CUI:C1335029 disease_ontology peripheral nerve disease peripheral neuropathy DOID:574 peripheral nervous system disease A nervous system disease that affects the peripheral nervous system. url:http://en.wikipedia.org/w/index.php?title=Peripheral_neuropathy&redirect=no peripheral nerve disease MTH:516 peripheral neuropathy CSP2005:2042-6617 NCI:C27455 UMLS_CUI:C1336009 small intestinal VIP Producing tumor disease_ontology DOID:5740 small intestinal vasoactive intestinal peptide producing tumor small intestinal VIP Producing tumor NCI2004_11_17:C27455 NCI:C27454 NCI:C95599 UMLS_CUI:C2033037 pancreatic VIP Producing tumor disease_ontology DOID:5741 pancreatic vasoactive intestinal peptide producing tumor pancreatic VIP Producing tumor NCI2004_11_17:C27454 A pancreatic adenocarcinoma that has_material_basis_in cells with morphological resemblance to acinar cells and is associated with increased serum lipase. NCI:C7977 UMLS_CUI:C0279661 pancreatic acinar cell carcinoma disease_ontology DOID:5742 pancreatic acinar cell adenocarcinoma A pancreatic adenocarcinoma that has_material_basis_in cells with morphological resemblance to acinar cells and is associated with increased serum lipase. url:http://en.wikipedia.org/wiki/Acinar_cell_carcinoma_of_the_pancreas url:http://www.pathologyoutlines.com/topic/pancreasacinar.html pancreatic acinar cell carcinoma NCI2004_11_17:C7977 NCI:C40367 UMLS_CUI:C1515868 disease_ontology DOID:5743 acinic cell breast carcinoma An ovary adenocarcinoma that derives_from the lining of a cavity that produces a serum-like fluid (a serous cavity). DOID:5745 NCI:C40025 NCI:C7550 UMLS_CUI:C1335177 UMLS_CUI:C1518234 malignant ovarian serous tumor serous carcinoma of Ovary disease_ontology DOID:5744 ovary serous adenocarcinoma An ovary adenocarcinoma that derives_from the lining of a cavity that produces a serum-like fluid (a serous cavity). url:http://en.wikipedia.org/wiki/Adenocarcinoma url:http://en.wikipedia.org/wiki/Serous_carcinoma serous carcinoma of Ovary NCI2004_11_17:C7550 An ovary serous adenocarcinoma that has_material_basis_in glandular epithelium, in which cystic accumulations of retained secretions are formed. NCI:C7978 UMLS_CUI:C0279663 serous cystadenoma disease_ontology DOID:5746 ovarian serous cystadenocarcinoma An ovary serous adenocarcinoma that has_material_basis_in glandular epithelium, in which cystic accumulations of retained secretions are formed. url:http://cancergenome.nih.gov/cancersselected/ovarian url:http://en.wikipedia.org/wiki/Serous_cystadenocarcinoma NCI:C40136 UMLS_CUI:C1519872 disease_ontology DOID:5747 uterine ligament serous adenocarcinoma ICD10CM:I09.89 ICD9CM:397.1 SNOMEDCT_US_2016_03_01:18687009 SNOMEDCT_US_2016_03_01:194747005 SNOMEDCT_US_2016_03_01:266283005 UMLS_CUI:C0155579 Rheumatic disease of pulmonary valve Rheumatic disease of pulmonary valve (disorder) Rheumatic pulmonary incompetence Rheumatic pulmonary valve disease NOS (disorder) disease_ontology DOID:5748 rheumatic pulmonary valve disease Rheumatic disease of pulmonary valve ICD9CM_2006:397.1 Rheumatic disease of pulmonary valve (disorder) SNOMEDCT_2005_07_31:18687009 Rheumatic pulmonary incompetence SNOMEDCT_2005_07_31:266283005 Rheumatic pulmonary valve disease NOS (disorder) SNOMEDCT_2005_07_31:194747005 ICD9CM:424.3 NCI:C78579 SNOMEDCT_US_2016_03_01:195001000 SNOMEDCT_US_2016_03_01:76267008 UMLS_CUI:C0034087 pulmonary valve disorder disease_ontology DOID:5749 pulmonary valve disease pulmonary valve disorder ICD9CM_2006:424.3 A uterine corpus cancer that is characterized histologically by papillae with fibrovascular cores, marked nuclear atypia, psammoma bodies and cilia. NCI:C27838 UMLS_CUI:C1336921 uterine papillary serous carcinoma uterine serous carcinoma disease_ontology DOID:5750 uterine corpus serous adenocarcinoma A uterine corpus cancer that is characterized histologically by papillae with fibrovascular cores, marked nuclear atypia, psammoma bodies and cilia. url:http://en.wikipedia.org/wiki/Uterine_serous_carcinoma NCI:C5724 UMLS_CUI:C1335315 serous cystadenocarcinoma of pancreas disease_ontology DOID:5751 pancreatic serous cystadenocarcinoma serous cystadenocarcinoma of pancreas NCI2004_11_17:C5724 NCI:C40201 UMLS_CUI:C1516431 disease_ontology DOID:5752 cervical serous adenocarcinoma NCI:C26762 SNOMEDCT_US_2016_03_01:155980007 SNOMEDCT_US_2016_03_01:198201006 SNOMEDCT_US_2016_03_01:266654000 SNOMEDCT_US_2016_03_01:31354001 UMLS_CUI:C0014127 disease_ontology DOID:5757 endocervicitis MESH:C535700 NCI:C4268 SNOMEDCT_US_2016_03_01:89623007 UMLS_CUI:C0334492 Mesenchymoma, malignant (morphologic abnormality) disease_ontology DOID:5758 malignant mesenchymoma Mesenchymoma, malignant (morphologic abnormality) SNOMEDCT_2005_07_31:89623007 MESH:D012626 NCI:C3363 SNOMEDCT_US_2016_03_01:126491004 UMLS_CUI:C0036503 Sebaceous neoplasm disease_ontology DOID:5759 sebaceous gland neoplasm Sebaceous neoplasm NCI2004_11_17:C3363 ICD10CM:R80 ICD10CM:R80.9 ICD9CM:791.0 MESH:D011507 NCI:C38012 SNOMEDCT_US_2016_03_01:144515004 SNOMEDCT_US_2016_03_01:158565005 SNOMEDCT_US_2016_03_01:158568007 SNOMEDCT_US_2016_03_01:167279003 SNOMEDCT_US_2016_03_01:207310001 SNOMEDCT_US_2016_03_01:207315006 SNOMEDCT_US_2016_03_01:232691000 SNOMEDCT_US_2016_03_01:236719005 SNOMEDCT_US_2016_03_01:29738008 UMLS_CUI:C0033687 disease_ontology DOID:576 proteinuria NCI:C40369 UMLS_CUI:C1519207 disease_ontology DOID:5760 sebaceous breast carcinoma NCI:C40309 UMLS_CUI:C1520094 disease_ontology DOID:5761 vulvar sebaceous carcinoma NCI:C38152 UMLS_CUI:C1333065 disease_ontology DOID:5763 lung clear cell-sugar-tumor DOID:6205 NCI:C5276 NCI:C5668 UMLS_CUI:C1334450 UMLS_CUI:C1335488 lung primary meningioma primary pulmonary meningioma pulmonary meningioma disease_ontology DOID:5764 lung meningioma primary pulmonary meningioma NCI2004_11_17:C5276 pulmonary meningioma NCI2004_11_17:C5668 disease_ontology DOID:5765 primary ectopic meningioma true MESH:D047868 NCI:C5656 SNOMEDCT_US_2016_03_01:707365008 UMLS_CUI:C1334455 Pneumocytoma disease_ontology DOID:5766 pulmonary sclerosing hemangioma Pneumocytoma NCI2004_11_17:C5656 NCI:C5671 SNOMEDCT_US_2016_03_01:126707007 UMLS_CUI:C1290358 lung Hilum tumor neoplasm of hilus of lung (disorder) disease_ontology DOID:5767 hilar lung neoplasm lung Hilum tumor NCI2004_11_17:C5671 neoplasm of hilus of lung (disorder) SNOMEDCT_2005_07_31:126707007 An acrofacial dysostosis characterized by underdeveloped cheek bones, very small lower jaw, cleft palate, defects in the middle ear, absent eyelashes, and a notch in the lower eyelids called a coloboma, in children. NCI:C35795 OMIM:154400 UMLS_CUI:C1332140 AFD Nager syndrome acrofacial dysostosis 1, Nager type preaxial acrofacial dysostosis preaxial manibulofacial dysostosis disease_ontology DOID:5768 OMIM mapping confirmed by DO. [SN]. Nager acrofacial dysostosis An acrofacial dysostosis characterized by underdeveloped cheek bones, very small lower jaw, cleft palate, defects in the middle ear, absent eyelashes, and a notch in the lower eyelids called a coloboma, in children. url:http://en.wikipedia.org/wiki/Nager_acrofacial_dysostosis url:http://ghr.nlm.nih.gov/condition/nager-syndrome url:http://www.faces-cranio.org/Disord/Nager.htm url:http://www.nagerormillersynd.com/ NCI:C4478 SNOMEDCT_US_2016_03_01:254756007 SNOMEDCT_US_2016_03_01:402477000 SNOMEDCT_US_2016_03_01:66174008 UMLS_CUI:C0346054 Cutaneous Verruciform Xanthoma Verruciform xanthoma (disorder) Verruciform xanthoma (morphologic abnormality) Verruciform xanthoma of skin (disorder) disease_ontology DOID:5769 verruciform xanthoma of skin Cutaneous Verruciform Xanthoma NCI2004_11_17:C4478 Verruciform xanthoma (disorder) SNOMEDCT_2005_07_31:402477000 Verruciform xanthoma (morphologic abnormality) SNOMEDCT_2005_07_31:66174008 Verruciform xanthoma of skin (disorder) SNOMEDCT_2005_07_31:254756007 MAI lymphadenitis disease_ontology DOID:5770 Mycobacterium avium-intracellulare lymphadenitis true MAC lymphadenitis disease_ontology DOID:5771 Mycobacterium avium complex lymphadenitis true A hematologic cancer and central nervous system neoplasm that is located_in the central nervous system. NCI:C5503 UMLS_CUI:C1332882 CNS hematopoietic tumor disease_ontology hematopoietic neoplasm of central nervous system DOID:5772 central nervous system hematologic cancer A hematologic cancer and central nervous system neoplasm that is located_in the central nervous system. url:http://www.oncologystat.com/journals/ew/YSONC/Central_Nervous_System_Disease_in_Hematologic_Malignancies_Historical_Perspective_and_Practical_Applications.html CNS hematopoietic tumor NCI2004_11_17:C5503 DOID:9679 ICD10CM:K13.5 ICD9CM:528.8 MESH:D009914 NCI:C34866 SNOMEDCT_US_2016_03_01:32883009 UMLS_CUI:C0029171 UMLS_CUI:C0029172 Oral cavity Submucous Fibrosis Oral submucosal fibrosis (disorder) Oral submucosal fibrosis, including of tongue disease_ontology DOID:5773 oral submucous fibrosis Oral submucosal fibrosis (disorder) SNOMEDCT_2005_07_31:32883009 Oral submucosal fibrosis, including of tongue ICD9CM_2006:528.8 NCI:C27777 UMLS_CUI:C1333817 disease_ontology DOID:5774 giant hemangioma NCI:C5395 UMLS_CUI:C1333086 Colonic Cavernous hemangioma disease_ontology DOID:5775 cavernous hemangioma of colon Colonic Cavernous hemangioma NCI2004_11_17:C5395 NCI:C7053 UMLS_CUI:C1332863 disease_ontology DOID:5776 cavernous hemangioma of face NCI:C5698 UMLS_CUI:C1335686 neuroendocrine tumor of rectum disease_ontology DOID:5777 rectum neuroendocrine neoplasm neuroendocrine tumor of rectum NCI2004_11_17:C5698 urination disorder disease_ontology DOID:578 urination disorder true urination disorder CSP2005:3047-0432 ICD10CM:H73.81 ICD9CM:384.81 SNOMEDCT_US_2016_03_01:194322005 SNOMEDCT_US_2016_03_01:38645004 UMLS_CUI:C0155470 disease_ontology DOID:5781 atrophic flaccid tympanic membrane ICD10CM:H73.9 ICD10CM:H73.90 ICD9CM:384.9 SNOMEDCT_US_2016_03_01:194326008 SNOMEDCT_US_2016_03_01:21426000 UMLS_CUI:C0041825 disease_ontology DOID:5782 tympanic membrane disease NCI:C5821 UMLS_CUI:C1333462 neuroendocrine tumor of esophagus disease_ontology DOID:5784 esophageal neuroendocrine tumor neuroendocrine tumor of esophagus NCI2004_11_17:C5821 relapsed Hepatoblastoma disease_ontology DOID:5785 recurrent hepatoblastoma true relapsed Hepatoblastoma NCI2004_11_17:C8643 relapsed pediatric cancer of the Liver disease_ontology DOID:5786 recurrent childhood cancer of liver true relapsed pediatric cancer of the Liver NCI2004_11_17:C7839 NCI:C7097 UMLS_CUI:C1334784 mixed epithelial and mesenchymal hepatoblastoma disease_ontology DOID:5789 mixed hepatoblastoma disease_ontology DOID:5790 resectable hepatoblastoma true disease_ontology DOID:5792 hepatoblastoma with pure fetal epithelial differentiation true Non-Resectable Hepatoblastoma disease_ontology DOID:5796 nonresectable hepatoblastoma true Non-Resectable Hepatoblastoma NCI2004_11_17:C8641 disease_ontology DOID:5797 mixed hepatoblastoma with teratoid features true NCI:C7095 UMLS_CUI:C1334543 disease_ontology DOID:5798 macrotrabecular hepatoblastoma ICD9CM:274.11 NCI:C123037 NCI:C123245 SNOMEDCT_US_2016_03_01:16410004 SNOMEDCT_US_2016_03_01:190831009 SNOMEDCT_US_2016_03_01:197793002 SNOMEDCT_US_2016_03_01:267441009 UMLS_CUI:C0403719 Uric acid nephrolithiasis Uric acid urolithiasis disease_ontology DOID:580 acute urate nephropathy Uric acid nephrolithiasis ICD9CM_2006:274.11 Uric acid urolithiasis SNOMEDCT_2005_07_31:267441009 disease_ontology DOID:5802 hepatoblastoma with combined fetal epithelial differentiation true MESH:D021922 UMLS_CUI:C0012628 disease_ontology DOID:5804 discrete subaortic stenosis MESH:D001020 NCI:C85172 SNOMEDCT_US_2016_03_01:204368006 SNOMEDCT_US_2016_03_01:250915007 UMLS_CUI:C0340375 disease_ontology DOID:5805 subvalvular aortic stenosis Salmon patch nevus (disorder) Unna's nevus disease_ontology DOID:5806 stork bite Salmon patch nevus (disorder) SNOMEDCT_2005_07_31:254211001 Unna's nevus NCI2004_11_17:C4399 NCI:C6589 UMLS_CUI:C1332994 disease_ontology DOID:5809 childhood parosteal osteogenic sarcoma disease_ontology DOID:581 gouty nephropathy true A severe combined immunodeficiency that is caused by a defective enzyme, adenosine deaminase (ADA), necessary for the breakdown of purines. Lack of ADA causes accumulation of dATP. CSP:1560-6660 ICD10CM:D81.3 NCI:C3962 OMIM:102700 SNOMEDCT_US_2016_03_01:124523006 SNOMEDCT_US_2016_03_01:190738006 SNOMEDCT_US_2016_03_01:190999009 SNOMEDCT_US_2016_03_01:44940001 UMLS_CUI:C0268124 ADA disease_ontology DOID:5810 adenosine deaminase deficiency A severe combined immunodeficiency that is caused by a defective enzyme, adenosine deaminase (ADA), necessary for the breakdown of purines. Lack of ADA causes accumulation of dATP. url:http://en.wikipedia.org/wiki/Severe_combined_immunodeficiency ICD10CM:D81.6 MESH:D016511 NCI:C3895 OMIM:209920 SNOMEDCT_US_2016_03_01:71904008 UMLS_CUI:C0242583 BLSII SCID due to absent class II HLA antigens (disorder) bare lymphocyte syndrome type II disease_ontology DOID:5812 OMIM mapping confirmed by DO. [SN]. MHC class II deficiency SCID due to absent class II HLA antigens (disorder) SNOMEDCT_2005_07_31:71904008 bare lymphocyte syndrome type II CSP2005:1560-6660 A combined T cell and B cell immunodeficiency that is a rare autosomal recessive metabolic disorder that has material basis in mutation in the PNP gene and characterized mainly by decreased T-cell function. ICD10CM:D81.5 MESH:C562587 NCI:C3963 OMIM:613179 SNOMEDCT_US_2016_03_01:124271005 SNOMEDCT_US_2016_03_01:191000008 SNOMEDCT_US_2016_03_01:60743005 UMLS_CUI:C0268125 PNP deficiency Purine nucleoside phosphorylase deficiency Purine-Nucleoside Phosphorylase deficiency deficiency of inosine phosphorylase disease_ontology DOID:5813 OMIM mapping confirmed by DO. [SN]. purine nucleoside phosphorylase deficiency A combined T cell and B cell immunodeficiency that is a rare autosomal recessive metabolic disorder that has material basis in mutation in the PNP gene and characterized mainly by decreased T-cell function. url:http://en.wikipedia.org/wiki/Purine_nucleoside_phosphorylase_deficiency Purine nucleoside phosphorylase deficiency SNOMEDCT_2005_07_31:191000008 Purine-Nucleoside Phosphorylase deficiency NCI2004_11_17:C3963 deficiency of inosine phosphorylase SNOMEDCT_2005_07_31:124271005 deficiency of inosine phosphorylase SNOMEDCT_2005_07_31:60743005 A cerebrum cancer that affects the lymph cells and derives_from the brain. DOID:5814 NCI:C7611 SNOMEDCT_US_2016_03_01:276836002 UMLS_CUI:C0240803 brain primary lymphoma primary Lymphoma of Cerebrum primary cerebral lymphoma (disorder) disease_ontology DOID:5815 cerebral lymphoma A cerebrum cancer that affects the lymph cells and derives_from the brain. url:http://en.wikipedia.org/wiki/Primary_central_nervous_system_lymphoma url:http://www.cancer.gov/cancertopics/pdq/treatment/primary-CNS-lymphoma/Patient/page1 url:http://www.ncbi.nlm.nih.gov/pubmed/10563426 url:http://www.nlm.nih.gov/medlineplus/ency/article/000734.htm primary Lymphoma of Cerebrum NCI2004_11_17:C3883 primary cerebral lymphoma (disorder) SNOMEDCT_2005_07_31:276836002 disease_ontology DOID:5818 ALPS-associated lymphoma true disease_ontology DOID:5819 localized lymphoma true ICD10CM:R82.3 ICD9CM:791.2 MESH:D006456 NCI:C34677 SNOMEDCT_US_2016_03_01:158571004 SNOMEDCT_US_2016_03_01:207317003 SNOMEDCT_US_2016_03_01:68600005 UMLS_CUI:C0019048 disease_ontology DOID:582 hemoglobinuria A lymphoma that begins in cells of the immune system in which different types of lymphoma cells occur at the same time. MESH:D058617 NCI:C38661 UMLS_CUI:C0545080 disease_ontology DOID:5820 composite lymphoma A lymphoma that begins in cells of the immune system in which different types of lymphoma cells occur at the same time. url:http://www.cancer.gov/dictionary/?CdrID=633086 NCI:C7184 UMLS_CUI:C1334749 disease_ontology DOID:5821 methotrexate-associated lymphoproliferation A lymphoma that is characterized by having cellular features of both classic Hodgkin's lymphomas and large B-cell Lymphomas. NCI:C37869 UMLS_CUI:C1333878 disease_ontology DOID:5822 gray zone lymphoma A lymphoma that is characterized by having cellular features of both classic Hodgkin's lymphomas and large B-cell Lymphomas. url:http://en.wikipedia.org/wiki/Gray_zone_lymphoma NCI:C5165 UMLS_CUI:C1332979 disease_ontology DOID:5823 pediatric lymphoma NCI:C7587 UMLS_CUI:C1332206 disease_ontology DOID:5825 adult lymphoma SNOMEDCT_US_2016_03_01:278052009 UMLS_CUI:C0349669 Lymphoma of the breast lymphoma of breast malignant lymphoma of breast (disorder) disease_ontology DOID:5826 breast lymphoma Lymphoma of the breast NCI2004_11_17:C4671 malignant lymphoma of breast (disorder) SNOMEDCT_2005_07_31:278052009 NCI:C7979 SNOMEDCT_US_2016_03_01:254852002 UMLS_CUI:C0346163 Ovarian endometrioid carcinoma endometrioid carcinoma ovary (disorder) disease_ontology endometrioid carcinoma of ovary DOID:5828 endometrioid ovary carcinoma Ovarian endometrioid carcinoma NCI2004_11_17:C7979 endometrioid carcinoma ovary (disorder) SNOMEDCT_2005_07_31:254852002 NCI:C40138 UMLS_CUI:C1519868 disease_ontology DOID:5829 uterine ligament endometrioid adenocarcinoma ICD10CM:D55-D59 MESH:D000743 NCI:C34376 OMIM:266120 OMIM:612631 SNOMEDCT_US_2016_03_01:191231008 SNOMEDCT_US_2016_03_01:191416001 SNOMEDCT_US_2016_03_01:61261009 UMLS_CUI:C0002878 ANEMIA HEMOLYTIC disease_ontology DOID:583 OMIM mapping confirmed by DO. [SN]. OMIM mapping by NeuroDevNet. [LS]. hemolytic anemia ANEMIA HEMOLYTIC MTH:NOCODE NCI:C6343 UMLS_CUI:C1332913 endometrioid carcinoma of the Cervix Uteri disease_ontology DOID:5830 cervical endometrioid adenocarcinoma endometrioid carcinoma of the Cervix Uteri NCI2004_11_17:C6343 DOID:1972 NCI:C40111 NCI:C6279 UMLS_CUI:C1333592 UMLS_CUI:C1517113 endometrioid carcinoma of the fallopian tube fallopian tube endometrioid cancer disease_ontology fallopian tube endometrioid neoplasm DOID:5831 fallopian tube endometrioid adenocarcinoma endometrioid carcinoma of the fallopian tube NCI2004_11_17:C6279 disease_ontology DOID:5832 metastatic endometrioid carcinoma true NCI:C39921 SNOMEDCT_US_2016_03_01:9294008 UMLS_CUI:C0334517 Spermatocytic Seminoma Spermatocytic seminoma (morphologic abnormality) disease_ontology DOID:5834 spermatocytoma Spermatocytic Seminoma NCI2004_11_17:C4284 Spermatocytic seminoma (morphologic abnormality) SNOMEDCT_2005_07_31:9294008 DOID:6136 NCI:C7327 UMLS_CUI:C1333502 primary extragonadal seminoma disease_ontology DOID:5838 extragonadal seminoma MESH:D018239 NCI:C7328 NCI:C9309 SNOMEDCT_US_2016_03_01:154532006 SNOMEDCT_US_2016_03_01:188228003 SNOMEDCT_US_2016_03_01:189840000 SNOMEDCT_US_2016_03_01:189841001 SNOMEDCT_US_2016_03_01:255107005 SNOMEDCT_US_2016_03_01:269603004 SNOMEDCT_US_2016_03_01:36741007 SNOMEDCT_US_2016_03_01:443675005 UMLS_CUI:C0036631 Seminoma of testis Seminoma of testis (disorder) Seminoma testis testicular Seminoma Pure disease_ontology DOID:5842 testis seminoma Seminoma of testis SNOMEDCT_2005_07_31:188228003 Seminoma of testis (disorder) SNOMEDCT_2005_07_31:255107005 Seminoma testis SNOMEDCT_2005_07_31:154532006 Seminoma testis SNOMEDCT_2005_07_31:269603004 testicular Seminoma Pure NCI2004_11_17:C7328 NCI:C36068 UMLS_CUI:C3642318 disease_ontology DOID:5843 posteroinferior myocardial infarction A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia. EFO:0000612 ICD10CM:I21 ICD10CM:I22 MESH:D009203 NCI:C27996 OMIM:608446 OMIM:608557 SNOMEDCT_US_2016_03_01:155304006 SNOMEDCT_US_2016_03_01:194796000 SNOMEDCT_US_2016_03_01:22298006 SNOMEDCT_US_2016_03_01:233824008 SNOMEDCT_US_2016_03_01:266288001 SNOMEDCT_US_2016_03_01:66514008 UMLS_CUI:C0027051 Myocardial infarct heart attack disease_ontology DOID:5844 Xref MGI. myocardial infarction A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=17951287 url:https://en.wikipedia.org/wiki/Myocardial_infarction Myocardial infarct SNOMEDCT_2005_07_31:266288001 heart attack CSP2005:1393-3417 MESH:D056988 UMLS_CUI:C0262564 disease_ontology DOID:5845 anterolateral myocardial infarction UMLS_CUI:C0746727 disease_ontology DOID:5846 septal myocardial infarction SNOMEDCT_US_2016_03_01:194800006 UMLS_CUI:C0340319 Posterior myocardial infarction NOS (disorder) disease_ontology DOID:5847 posterior myocardial infarction Posterior myocardial infarction NOS (disorder) SNOMEDCT_2005_07_31:194800006 NCI:C36073 UMLS_CUI:C3642319 disease_ontology DOID:5848 apical myocardial infarction NCI:C35305 UMLS_CUI:C3642476 disease_ontology DOID:5849 subendocardial myocardial infarction EFO:0004253 ICD10CM:N20 ICD10CM:N20.2 ICD9CM:592 OMIM:167030 SNOMEDCT_US_2016_03_01:155867005 SNOMEDCT_US_2016_03_01:197792007 SNOMEDCT_US_2016_03_01:197796005 SNOMEDCT_US_2016_03_01:266556005 SNOMEDCT_US_2016_03_01:266622009 UMLS_CUI:C0156257 NEPHROLITHIASIS, CALCIUM OXALATE Stone - kidney/ureter UROLITHIASIS, CALCIUM OXALATE calculus of kidney and ureter kidney stones disease_ontology DOID:585 OMIM mapping confirmed by DO. [SN]. nephrolithiasis Stone - kidney/ureter SNOMEDCT_2005_07_31:155867005 calculus of kidney and ureter SNOMEDCT_2005_07_31:266556005 MESH:D056989 SNOMEDCT_US_2016_03_01:194804002 UMLS_CUI:C0340305 Inferior myocardial infarction NOS (disorder) disease_ontology DOID:5850 inferior myocardial infarction Inferior myocardial infarction NOS (disorder) SNOMEDCT_2005_07_31:194804002 NCI:C35672 UMLS_CUI:C3642463 disease_ontology DOID:5851 posterolateral myocardial infarction NCI:C35673 UMLS_CUI:C3537017 disease_ontology DOID:5852 inferolateral myocardial infarct SNOMEDCT_US_2016_03_01:194801005 UMLS_CUI:C0340312 Lateral myocardial infarction NOS (disorder) disease_ontology DOID:5853 lateral myocardial infarction Lateral myocardial infarction NOS (disorder) SNOMEDCT_2005_07_31:194801005 NCI:C35400 SNOMEDCT_US_2016_03_01:194796000 SNOMEDCT_US_2016_03_01:233843008 UMLS_CUI:C0340324 Silent myocardial infarction Silent myocardial infarction (disorder) disease_ontology DOID:5854 silent myocardial infarction Silent myocardial infarction SNOMEDCT_2005_07_31:194796000 Silent myocardial infarction (disorder) SNOMEDCT_2005_07_31:233843008 MESH:D056988 UMLS_CUI:C0262565 disease_ontology DOID:5855 anteroseptal myocardial infarction disease_ontology DOID:5857 secondary chondrosarcoma true Periosteal chondrosarcoma disease_ontology DOID:5859 periosteal chondrosarcoma Periosteal chondrosarcoma SNOMEDCT_2005_07_31:26211003 NCI:C4303 SNOMEDCT_US_2016_03_01:189881008 SNOMEDCT_US_2016_03_01:75622000 UMLS_CUI:C0334551 Myxoid chondrosarcoma (morphologic abnormality) Myxoid chondrosarcoma (morphologic abnormality) disease_ontology DOID:5861 myxoid chondrosarcoma Myxoid chondrosarcoma (morphologic abnormality) SNOMEDCT_2005_07_31:189881008 Myxoid chondrosarcoma (morphologic abnormality) SNOMEDCT_2005_07_31:75622000 NCI:C8778 UMLS_CUI:C0855011 disease_ontology DOID:5862 localized chondrosarcoma relapsed chondrosarcoma disease_ontology DOID:5863 recurrent chondrosarcoma true relapsed chondrosarcoma NCI2004_11_17:C8780 disease_ontology DOID:5865 metastatic chondrosarcoma true NCI:C7357 SNOMEDCT_US_2016_03_01:26211003 UMLS_CUI:C0334549 Juxtacortical chondrosarcoma (morphologic abnormality) disease_ontology DOID:5866 juxtacortical chondrosarcoma Juxtacortical chondrosarcoma (morphologic abnormality) SNOMEDCT_2005_07_31:26211003 NCI:C6475 SNOMEDCT_US_2016_03_01:128775007 UMLS_CUI:C1266167 Clear cell chondrosarcoma Clear cell chondrosarcoma (morphologic abnormality) disease_ontology DOID:5867 clear cell chondrosarcoma Clear cell chondrosarcoma NCI2004_11_17:C6475 Clear cell chondrosarcoma (morphologic abnormality) SNOMEDCT_2005_07_31:128775007 A pulmonary tuberculosis characterized by tubercles formation which coalesce into consolidated areas. Caseation and softening of these areas, with involvement of the interstitial tissue, lead to the formation of a cavity. The symptoms include fever, increased cough and sputum. cavitary tuberculosis tuberculous cavity of lung disease_ontology DOID:587 tuberculous lung cavity true A pulmonary tuberculosis characterized by tubercles formation which coalesce into consolidated areas. Caseation and softening of these areas, with involvement of the interstitial tissue, lead to the formation of a cavity. The symptoms include fever, increased cough and sputum. url:http://www.bmj.com/cgi/reprint/1/4177/115.pdf A pneumonia in which certain type of white blood cell called an eosinophil accumulates in the lung. These cells cause disruption of the normal air spaces (alveoli) where oxygen is extracted from the atmosphere. It is caused by certain medications or environmental triggers, parasitic infections, and cancer. The most common symptoms include cough, fever, difficulty breathing, and sweating at night. ICD10CM:J82 MESH:D011657 NCI:C35150 SNOMEDCT_US_2016_03_01:196145005 SNOMEDCT_US_2016_03_01:367542003 SNOMEDCT_US_2016_03_01:91053000 UMLS_CUI:C1527407 Pneumonia, eosinophilic disease_ontology DOID:5870 eosinophilic pneumonia A pneumonia in which certain type of white blood cell called an eosinophil accumulates in the lung. These cells cause disruption of the normal air spaces (alveoli) where oxygen is extracted from the atmosphere. It is caused by certain medications or environmental triggers, parasitic infections, and cancer. The most common symptoms include cough, fever, difficulty breathing, and sweating at night. url:http://en.wikipedia.org/wiki/Eosinophilic_pneumonia Pneumonia, eosinophilic MTHICD9_2006:518.3 disease_ontology DOID:5872 placental necrosis true NCI:C6447 UMLS_CUI:C1335776 germ cell tumor of Retroperitoneum disease_ontology DOID:5874 retroperitoneal germ cell neoplasm germ cell tumor of Retroperitoneum NCI2004_11_17:C6447 An organ system cancer located_in the retroperitoneal space that is manifested in retroperitoneal space in the abdominal cavity behind the peritoneum. DOID:12340 DOID:9860 ICD10CM:C48 ICD10CM:C48.0 ICD9CM:158 ICD9CM:158.0 MESH:D012186 NCI:C3357 NCI:C3537 SNOMEDCT_US_2016_03_01:126872008 SNOMEDCT_US_2016_03_01:187801002 SNOMEDCT_US_2016_03_01:187805006 SNOMEDCT_US_2016_03_01:187817008 SNOMEDCT_US_2016_03_01:254617008 SNOMEDCT_US_2016_03_01:359767009 SNOMEDCT_US_2016_03_01:359770008 SNOMEDCT_US_2016_03_01:363420003 SNOMEDCT_US_2016_03_01:94092006 UMLS_CUI:C0035358 UMLS_CUI:C0153464 UMLS_CUI:C0153465 malignant neoplasm of retroperitoneum and peritoneum malignant neoplasm of retroperitoneum and peritoneum NOS (disorder) malignant tumor of peritoneum and retroperitoneum malignant tumor of peritoneum and retroperitoneum (disorder) neoplasm of retroperitoneum neoplasm of the retroperitoneum retroperitoneal neoplasm tumor of retroperitoneum (disorder) disease_ontology malignant neoplasm of retroperitoneum malignant retroperitoneal cancer DOID:5875 retroperitoneal cancer An organ system cancer located_in the retroperitoneal space that is manifested in retroperitoneal space in the abdominal cavity behind the peritoneum. url:http://en.wikipedia.org/wiki/Retroperitoneal_space malignant neoplasm of retroperitoneum and peritoneum ICD9CM_2006:158 malignant neoplasm of retroperitoneum and peritoneum NOS (disorder) SNOMEDCT_2005_07_31:187817008 malignant tumor of peritoneum and retroperitoneum (disorder) SNOMEDCT_2005_07_31:187801002 neoplasm of retroperitoneum SNOMEDCT_2005_07_31:359767009 neoplasm of the retroperitoneum SNOMEDCT_2005_07_31:126872008 neoplasm of the retroperitoneum SNOMEDCT_2005_07_31:359770008 retroperitoneal neoplasm CSP2005:2005-3788 retroperitoneal neoplasm NCI2004_11_17:C3357 tumor of retroperitoneum (disorder) SNOMEDCT_2005_07_31:254617008 malignant neoplasm of retroperitoneum ICD9CM_2006:158.0 NCI:C6798 UMLS_CUI:C1332318 Apocrine tumor disease_ontology DOID:5876 apocrine sweat gland neoplasm Apocrine tumor NCI2004_11_17:C6798 DOID:14538 NCI:C4570 NCI:C5346 SNOMEDCT_US_2016_03_01:126731002 SNOMEDCT_US_2016_03_01:363436001 SNOMEDCT_US_2016_03_01:93778001 UMLS_CUI:C0346612 UMLS_CUI:C1290401 malignant Endocardial tumor malignant neoplasm of endocardium malignant tumor of endocardium disease_ontology DOID:5877 endocardium cancer malignant Endocardial tumor NCI2004_11_17:C4570 malignant neoplasm of endocardium MTHICD9_2006:164.1 SNOMEDCT_2005_07_31:93778001 NCI:C7635 UMLS_CUI:C1337012 Well-differentiated Papillary tumor of Mesothelium disease_ontology DOID:5884 benign intermediate mesothelioma Well-differentiated Papillary tumor of Mesothelium NCI2004_11_17:C7635 mixed Embryonal carcinoma and teratoma with Seminoma of testis disease_ontology DOID:5886 mixed embryonal carcinoma and teratoma with seminoma of the testis true mixed Embryonal carcinoma and teratoma with Seminoma of testis NCI2004_11_17:C6352 disease_ontology DOID:5888 congenital cystic kidney disease true Ependymoma, anaplastic (morphologic abnormality) Undifferentiated Ependymoma anaplastic ependymoma (morphologic abnormality) disease_ontology DOID:5889 anaplastic ependymoma true Ependymoma, anaplastic (morphologic abnormality) SNOMEDCT_2005_07_31:21589007 Undifferentiated Ependymoma NCI2004_11_17:C4049 anaplastic ependymoma (morphologic abnormality) SNOMEDCT_2005_07_31:134172003 ICD10CM:D58.9 ICD9CM:282 ICD9CM:282.9 MESH:D000745 NCI:C34379 SNOMEDCT_US_2016_03_01:154794008 SNOMEDCT_US_2016_03_01:154801000 SNOMEDCT_US_2016_03_01:191208008 SNOMEDCT_US_2016_03_01:267556002 SNOMEDCT_US_2016_03_01:267558001 SNOMEDCT_US_2016_03_01:38911009 SNOMEDCT_US_2016_03_01:42601008 UMLS_CUI:C0002881 hereditary hemolytic anemia disease_ontology DOID:589 congenital hemolytic anemia NCI:C8269 UMLS_CUI:C0280787 disease_ontology DOID:5890 malignant adult ependymoma NCI:C8097 UMLS_CUI:C0279991 disease_ontology DOID:5893 childhood malignant mesenchymoma NCI:C7947 UMLS_CUI:C0279548 disease_ontology DOID:5894 adult malignant mesenchymoma NCI:C8988 SNOMEDCT_US_2016_03_01:58161009 UMLS_CUI:C1377853 Clear cell cystadenofibroma disease_ontology DOID:5895 clear cell cystadenofibroma Clear cell cystadenofibroma SNOMEDCT_2005_07_31:58161009 NCI:C40086 UMLS_CUI:C1518695 disease_ontology DOID:5896 ovarian clear cell cystadenofibroma NCI:C40085 UMLS_CUI:C1518694 disease_ontology DOID:5897 ovarian clear cell adenofibroma NCI:C4662 SNOMEDCT_US_2016_03_01:128730009 SNOMEDCT_US_2016_03_01:277527003 UMLS_CUI:C1266113 Leptomeningeal melanocytoma melanocytoma of meninges (disorder) disease_ontology DOID:5900 meningeal melanocytoma Leptomeningeal melanocytoma NCI2004_11_17:C4662 melanocytoma of meninges (disorder) SNOMEDCT_2005_07_31:277527003 NCI:C27791 UMLS_CUI:C1334984 Non-Invasive Penile verrucous carcinoma disease_ontology DOID:5907 penis non-invasive verrucous carcinoma Non-Invasive Penile verrucous carcinoma NCI2004_11_17:C27791 NCI:C6982 UMLS_CUI:C1336955 verrucous squamous carcinoma of penis disease_ontology DOID:5908 penis verrucous carcinoma verrucous squamous carcinoma of penis NCI2004_11_17:C6982 An anxiety disorder where fear and anxiety are triggered by a specific stimulus or situation. ICD10CM:F40 ICD10CM:F40.9 ICD9CM:300.2 ICD9CM:300.20 MESH:D010698 NCI:C35420 SNOMEDCT_US_2016_03_01:154884005 SNOMEDCT_US_2016_03_01:191720001 SNOMEDCT_US_2016_03_01:191721002 SNOMEDCT_US_2016_03_01:191734001 SNOMEDCT_US_2016_03_01:192393009 SNOMEDCT_US_2016_03_01:192398000 SNOMEDCT_US_2016_03_01:268630000 SNOMEDCT_US_2016_03_01:386808001 SNOMEDCT_US_2016_03_01:386810004 SNOMEDCT_US_2016_03_01:52039009 SNOMEDCT_US_2016_03_01:65673007 UMLS_CUI:C0349231 disease_ontology DOID:591 phobic disorder An anxiety disorder where fear and anxiety are triggered by a specific stimulus or situation. url:http://en.wikipedia.org/wiki/Anxiety_disorder NCI:C5823 UMLS_CUI:C1332602 tumor of the Brachial Plexus disease_ontology DOID:5913 brachial plexus neoplasm tumor of the Brachial Plexus NCI2004_11_17:C5823 NCI:C7427 SNOMEDCT_US_2016_03_01:62681000 UMLS_CUI:C0334330 Nonencapsulated Sclerosing neoplasm Papillary carcinoma, diffuse sclerosing disease_ontology DOID:5914 nonencapsulated sclerosing carcinoma Nonencapsulated Sclerosing neoplasm NCI2004_11_17:C7427 Papillary carcinoma, diffuse sclerosing SNOMEDCT_2005_07_31:62681000 Intravascular leiomyomatosis of Uterus disease_ontology DOID:5915 uterus intravascular leiomyomatosis Intravascular leiomyomatosis of Uterus NCI2004_11_17:C5356 NCI:C40170 UMLS_CUI:C1519855 disease_ontology DOID:5916 uterine corpus leiomyomatosis disease_ontology DOID:5917 uterine corpus diffuse leiomyomatosis localized Unresectable adult Liver carcinoma disease_ontology DOID:5918 localized unresectable adult primary liver cancer true localized Unresectable adult Liver carcinoma NCI2004_11_17:C7878 disease_ontology DOID:5919 localized unresectable adult primary hepatoma true disease_ontology DOID:5920 malignant fibrous histiocytoma metastatic true NCI:C9371 UMLS_CUI:C1377915 adult brain stem mixed glioma disease_ontology DOID:5921 adult brainstem mixed glioma adult brain stem mixed glioma NCI2004_11_17:C9371 NCI:C6954 UMLS_CUI:C1332191 disease_ontology DOID:5922 adult brainstem astrocytoma NCI:C7109 UMLS_CUI:C1333308 carcinoma of the Distal biliary tract disease_ontology DOID:5923 distal biliary tract carcinoma carcinoma of the Distal biliary tract NCI2004_11_17:C7109 recurrent extrahepatic bile duct carcinoma disease_ontology DOID:5924 recurrent extrahepatic bile duct cancer true recurrent extrahepatic bile duct carcinoma NCI2004_11_17:C7893 NCI:C5845 UMLS_CUI:C1335979 Oat cell extrahepatic bile duct carcinoma disease_ontology DOID:5926 extrahepatic bile duct small cell adenocarcinoma Oat cell extrahepatic bile duct carcinoma NCI2004_11_17:C5845 Autosomal Recessive Polycystic kidney disease Polycystic kidney disease, infantile type (disorder) Polycystic kidney, autosomal recessive disease_ontology DOID:5928 autosomal recessive polycystic kidney true Autosomal Recessive Polycystic kidney disease MTH:NOCODE Polycystic kidney disease, infantile type (disorder) SNOMEDCT_2005_07_31:28770003 Polycystic kidney, autosomal recessive ICD9CM_2006:753.14 A phobic disorder involving the specific anxiety about being in a place or situation where escape is difficult or embarrassing or where help may be unavailable. ICD10CM:F40.0 ICD10CM:F40.00 MESH:D000379 NCI:C34362 SNOMEDCT_US_2016_03_01:154885006 SNOMEDCT_US_2016_03_01:192394003 SNOMEDCT_US_2016_03_01:247830007 SNOMEDCT_US_2016_03_01:70691001 UMLS_CUI:C0001818 Fear of open spaces (finding) disease_ontology DOID:593 agoraphobia A phobic disorder involving the specific anxiety about being in a place or situation where escape is difficult or embarrassing or where help may be unavailable. url:http://en.wikipedia.org/wiki/Anxiety_disorder Fear of open spaces (finding) SNOMEDCT_2005_07_31:247830007 Unresectable extrahepatic bile duct carcinoma disease_ontology DOID:5931 unresectable extrahepatic bile duct cancer true Unresectable extrahepatic bile duct carcinoma NCI2004_11_17:C7892 Resectable bile duct cancer disease_ontology DOID:5933 resectable bile duct cancer true Resectable bile duct cancer NCI2004_11_17:C8640 localized extrahepatic bile duct carcinoma disease_ontology DOID:5934 localized extrahepatic bile duct cancer true localized extrahepatic bile duct carcinoma NCI2004_11_17:C7891 NCI:C8114 UMLS_CUI:C0280135 mixed germ cell tumor of Ovary disease_ontology DOID:5936 ovarian mixed germ cell neoplasm mixed germ cell tumor of Ovary NCI2004_11_17:C8114 Polycystic kidney disease, adult type (disorder) Polycystic kidney, autosomal dominant disease_ontology DOID:5937 autosomal dominant polycystic kidney true Polycystic kidney disease, adult type (disorder) SNOMEDCT_2005_07_31:28728008 Polycystic kidney, autosomal dominant ICD9CM_2006:753.13 An anxiety disorder that is characterized by unexpected and repeated episodes of intense fear accompanied by physical symptoms that may include chest pain, heart palpitations, shortness of breath, dizziness, or abdominal distress. EFO:0004262 MESH:D016584 NCI:C34890 OMIM:167870 OMIM:607853 OMIM:609985 SNOMEDCT_US_2016_03_01:191705007 SNOMEDCT_US_2016_03_01:192400001 SNOMEDCT_US_2016_03_01:268627007 SNOMEDCT_US_2016_03_01:371631005 UMLS_CUI:C0030319 panic anxiety syndrome disease_ontology DOID:594 Xref MGI. panic disorder An anxiety disorder that is characterized by unexpected and repeated episodes of intense fear accompanied by physical symptoms that may include chest pain, heart palpitations, shortness of breath, dizziness, or abdominal distress. url:http://www.nimh.nih.gov/health/topics/panic-disorder/index.shtml panic anxiety syndrome CSP2005:4000-0280 MESH:D009442 NCI:C3798 SNOMEDCT_US_2016_03_01:134324009 SNOMEDCT_US_2016_03_01:189949003 SNOMEDCT_US_2016_03_01:19897006 SNOMEDCT_US_2016_03_01:404037002 SNOMEDCT_US_2016_03_01:77418004 UMLS_CUI:C0751690 malignant neoplasm of the peripheral nerve Sheath malignant peripheral nerve sheath tumor (disorder) malignant peripheral nerve sheath tumor (morphologic abnormality) malignant peripheral nerve sheath tumor [dup] (morphologic abnormality) disease_ontology DOID:5940 malignant peripheral nerve sheath tumor malignant neoplasm of the peripheral nerve Sheath NCI2004_11_17:C3798 malignant peripheral nerve sheath tumor (disorder) SNOMEDCT_2005_07_31:404037002 malignant peripheral nerve sheath tumor (morphologic abnormality) SNOMEDCT_2005_07_31:19897006 malignant peripheral nerve sheath tumor [dup] (morphologic abnormality) SNOMEDCT_2005_07_31:134324009 disease_ontology DOID:5941 lung carcinoma metastatic to the brain true NCI:C3927 SNOMEDCT_US_2016_03_01:62727008 UMLS_CUI:C0263640 Angiokeratoma of Mibelli (disorder) disease_ontology DOID:5948 angiokeratoma of mibelli Angiokeratoma of Mibelli (disorder) SNOMEDCT_2005_07_31:62727008 NCI:C7751 SNOMEDCT_US_2016_03_01:21848000 UMLS_CUI:C0263638 Angiokeratoma circumscriptum (disorder) disease_ontology DOID:5949 angiokeratoma circumscriptum Angiokeratoma circumscriptum (disorder) SNOMEDCT_2005_07_31:21848000 NCI:C39845 UMLS_CUI:C1511206 disease_ontology DOID:5957 bladder urachal squamous cell carcinoma NCI:C39842 UMLS_CUI:C1511205 disease_ontology DOID:5958 bladder urachal carcinoma disease_ontology DOID:5963 schistosoma hematobium-related bladder squamous cell carcinoma true NCI:C6148 UMLS_CUI:C1377909 Papillary carcinoma of renal Pelvis disease_ontology DOID:5973 kidney pelvis papillary carcinoma Papillary carcinoma of renal Pelvis NCI2004_11_17:C6148 NCI:C7355 UMLS_CUI:C0238410 Urothelial cell carcinoma of renal Pelvis disease_ontology DOID:5974 renal pelvis transitional cell carcinoma Urothelial cell carcinoma of renal Pelvis NCI2004_11_17:C7355 NCI:C8603 UMLS_CUI:C0853688 Papillary neoplasm of renal Pelvis disease_ontology DOID:5975 renal pelvis papillary tumor Papillary neoplasm of renal Pelvis NCI2004_11_17:C8603 DOID:10961 DOID:1547 ICD10CM:I65.9 ICD9CM:433 ICD9CM:433.3 ICD9CM:433.9 UMLS_CUI:C0155725 UMLS_CUI:C0155727 disease_ontology Occlusion and stenosis of multiple and bilateral precerebral arteries occlusion and stenosis of precerebral artery DOID:5976 occlusion precerebral artery NCI:C8404 SNOMEDCT_US_2016_03_01:126881002 SNOMEDCT_US_2016_03_01:254926009 UMLS_CUI:C0346260 neoplasm of renal pelvis (disorder) tumor of kidney Pelvis tumor of renal pelvis (disorder) disease_ontology DOID:5977 renal pelvis neoplasm neoplasm of renal pelvis (disorder) SNOMEDCT_2005_07_31:126881002 tumor of kidney Pelvis NCI2004_11_17:C8404 tumor of renal pelvis (disorder) SNOMEDCT_2005_07_31:254926009 A human papillomavirus related squamous cell carcinoma that results_in infection located_in vulva, has_material_basis_in human papillomavirus (type16 and 18), which cause malignant tumors in squamous epithelium of the vulva. DOID:5978 HPV-Related Vulvar squamous cell carcinoma vulvar condylomatous carcinoma disease_ontology DOID:5979 human papilloma virus related vulvar squamous cell carcinoma true A human papillomavirus related squamous cell carcinoma that results_in infection located_in vulva, has_material_basis_in human papillomavirus (type16 and 18), which cause malignant tumors in squamous epithelium of the vulva. url:http://cebp.aacrjournals.org/content/18/7/2061.abstract url:http://emedicine.medscape.com/article/219110-overview HPV-Related Vulvar squamous cell carcinoma NCI2004_11_17:C27679 Undifferentiated Hemispheric astrocytoma disease_ontology DOID:5980 hemispheric anaplastic astrocytoma true Undifferentiated Hemispheric astrocytoma NCI2004_11_17:C5123 Hypothalamic hamartoma hamartoma of hypothalamus (disorder) disease_ontology DOID:5981 hamartoma of hypothalamus true Hypothalamic hamartoma NCI2004_11_17:C4385 hamartoma of hypothalamus (disorder) SNOMEDCT_2005_07_31:237714006 NCI:C7726 UMLS_CUI:C0238208 Fibrosarcoma of the kidney disease_ontology DOID:5982 kidney fibrosarcoma Fibrosarcoma of the kidney NCI2004_11_17:C7726 A kidney sarcoma that starts in the bones and that is located_in the kidney. NCI:C6181 UMLS_CUI:C1335747 renal Osteogenic sarcoma disease_ontology DOID:5983 kidney osteogenic sarcoma A kidney sarcoma that starts in the bones and that is located_in the kidney. url:http://www.ncbi.nlm.nih.gov/pubmed/1768219 renal Osteogenic sarcoma NCI2004_11_17:C6181 disease_ontology DOID:5989 clear cell myomelanocytic tumor of the Falciform Ligament/Ligamentum Teres true A phobic disorder that is characterized by an unreasonable or irrational fear related to exposure to specific objects or situations. ICD10CM:F40.2 MESH:C562465 NCI:C35284 OMIM:608251 SNOMEDCT_US_2016_03_01:192396001 SNOMEDCT_US_2016_03_01:54587008 UMLS_CUI:C0236801 simple phobia disease_ontology DOID:599 specific phobia A phobic disorder that is characterized by an unreasonable or irrational fear related to exposure to specific objects or situations. url:http://en.wikipedia.org/wiki/Specific_phobia url:http://www.healthyplace.com/other-info/psychiatric-disorder-definitions/specific-simple-phobia/menu-id-71/ NCI:C5307 UMLS_CUI:C1334227 meningioma of the Internal Auditory canal disease_ontology DOID:5990 internal auditory canal meningioma meningioma of the Internal Auditory canal NCI2004_11_17:C5307 disease_ontology DOID:5991 early onset breast ovarian cancer syndrome true NCI:C6941 UMLS_CUI:C1332573 disease_ontology DOID:5996 blunt duct adenosis of breast NCI:C6943 UMLS_CUI:C1332628 Non-Proliferative Fibrocystic Change disease_ontology DOID:5997 non-proliferative fibrocystic change of the breast Non-Proliferative Fibrocystic Change NCI2004_11_17:C6943 MESH:D005348 NCI:C3484 SNOMEDCT_US_2016_03_01:270893004 UMLS_CUI:C0085750 Adenosis - breast Adenosis of the breast disease_ontology DOID:5998 microglandular adenosis Adenosis - breast SNOMEDCT_2005_07_31:270893004 Adenosis of the breast NCI2004_11_17:C3484 NCI:C5198 UMLS_CUI:C1332314 Apocrine Adenosis of the breast disease_ontology DOID:5999 apocrine adenosis of breast Apocrine Adenosis of the breast NCI2004_11_17:C5198 A specific phobia that involves a fear caused by the presence or thought of a specific animal that poses little or no danger at all. NCI:C35273 SNOMEDCT_US_2016_03_01:192396001 SNOMEDCT_US_2016_03_01:54307006 UMLS_CUI:C0233711 Fear of animals (finding) Zoophobia (finding) disease_ontology DOID:600 animal phobia A specific phobia that involves a fear caused by the presence or thought of a specific animal that poses little or no danger at all. url:http://hubpages.com/hub/list-of-animal-phobias Fear of animals (finding) SNOMEDCT_2005_07_31:247848003 Zoophobia (finding) SNOMEDCT_2005_07_31:54307006 A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body. DOID:395 ICD10CM:I50 ICD10CM:I50.9 ICD9CM:428 ICD9CM:428.0 ICD9CM:428.9 MESH:D006333 NCI:C3080 NCI:C50577 SNOMEDCT_US_2016_03_01:155374007 SNOMEDCT_US_2016_03_01:155375008 SNOMEDCT_US_2016_03_01:155377000 SNOMEDCT_US_2016_03_01:195108009 SNOMEDCT_US_2016_03_01:195117009 SNOMEDCT_US_2016_03_01:266248006 SNOMEDCT_US_2016_03_01:266308000 SNOMEDCT_US_2016_03_01:42343007 SNOMEDCT_US_2016_03_01:84114007 UMLS_CUI:C0018801 UMLS_CUI:C0018802 CHF Cardiac Failure Congestive Congestive heart disease Weak heart disease_ontology DOID:6000 congestive heart failure A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body. url:http://en.wikipedia.org/wiki/Heart_disease CHF CSP2005:1393-3597 Cardiac Failure Congestive NCI2004_11_17:C3080 Congestive heart disease MTHICD9_2006:428.0 Weak heart MTHICD9_2006:428.9 NCI:C5185 UMLS_CUI:C1332630 Fibrosarcoma of the breast disease_ontology DOID:6001 breast fibrosarcoma Fibrosarcoma of the breast NCI2004_11_17:C5185 NCI:C4983 UMLS_CUI:C0887846 disease_ontology DOID:6003 aleukemic leukemia cutis A leukemia that arises from changes in the tissues forming white blood cells and characterized by a normal or decreased number of white blood cells in the circulating blood. NCI:C4982 SNOMEDCT_US_2016_03_01:112688008 SNOMEDCT_US_2016_03_01:154602005 SNOMEDCT_US_2016_03_01:190028007 SNOMEDCT_US_2016_03_01:269633006 SNOMEDCT_US_2016_03_01:302856006 UMLS_CUI:C0877858 disease_ontology aleukemic myelosis DOID:6004 aleukemic leukemia A leukemia that arises from changes in the tissues forming white blood cells and characterized by a normal or decreased number of white blood cells in the circulating blood. url:http://www.merriam-webster.com/medical/aleukemic%20leukemia Embryonal carcinoma of mediastinum disease_ontology embryonal carcinoma of the mediastinum DOID:6013 mediastinum embryonal carcinoma true Embryonal carcinoma of mediastinum NCI2004_11_17:C6441 DOID:5558 germ cell tumor of mediastinum malignant germ cell tumor of mediastinum mediastinal germ cell neoplasm disease_ontology DOID:6014 mediastinal germ cell cancer true germ cell tumor of mediastinum NCI2004_11_17:C6437 malignant germ cell tumor of mediastinum NCI2004_11_17:C6446 NCI:C5794 UMLS_CUI:C1370506 teratoma of the adult central nervous system disease_ontology DOID:6015 adult central nervous system teratoma teratoma of the adult central nervous system NCI2004_11_17:C5794 NCI:C27400 UMLS_CUI:C1332194 disease_ontology DOID:6016 adult central nervous system mature teratoma NCI:C7013 UMLS_CUI:C1332886 Mature teratoma of the CNS disease_ontology DOID:6017 central nervous system mature teratoma Mature teratoma of the CNS NCI2004_11_17:C7013 NCI:C27401 UMLS_CUI:C1332193 disease_ontology DOID:6018 adult central nervous system immature teratoma NCI:C7014 UMLS_CUI:C1332883 Immature teratoma of the CNS disease_ontology DOID:6019 central nervous system immature teratoma Immature teratoma of the CNS NCI2004_11_17:C7014 NCI:C35492 SNOMEDCT_US_2016_03_01:191730005 SNOMEDCT_US_2016_03_01:300930008 SNOMEDCT_US_2016_03_01:34563004 UMLS_CUI:C0233705 Fear of getting cancer (finding) cancer phobia disease_ontology DOID:602 cancerophobia Fear of getting cancer (finding) SNOMEDCT_2005_07_31:34563004 cancer phobia SNOMEDCT_2005_07_31:300930008 disease_ontology DOID:6020 metastatic MPNST true NCI:C39942 UMLS_CUI:C1515288 disease_ontology DOID:6021 malignant testicular Leydig cell tumor melanoma of the CNS disease_ontology DOID:6022 central nervous system melanoma true melanoma of the CNS NCI2004_11_17:C5505 metastatic tumor to the Parathyroid disease_ontology DOID:6023 metastasis to the parathyroid gland true metastatic tumor to the Parathyroid NCI2004_11_17:C8557 NCI:C27143 SNOMEDCT_US_2016_03_01:234540007 UMLS_CUI:C0398694 Selective IgE Immunodeficiency Selective immunoglobulin E deficiency (disorder) disease_ontology DOID:6024 selective IgE deficiency disease Selective IgE Immunodeficiency NCI2004_11_17:C27143 Selective immunoglobulin E deficiency (disorder) SNOMEDCT_2005_07_31:234540007 NCI:C27870 UMLS_CUI:C1335942 disease_ontology DOID:6025 selective immunoglobulin deficiency disease NCI:C35614 UMLS_CUI:C0853870 disease_ontology DOID:603 AIDS phobia Disseminated squamous cell carcinoma (morphologic abnormality) disease_ontology DOID:6031 disseminated squamous cell carcinoma true Disseminated squamous cell carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:300987004 DOID:5332 NCI:C39947 SNOMEDCT_US_2016_03_01:189735004 SNOMEDCT_US_2016_03_01:77029009 UMLS_CUI:C0334403 UMLS_CUI:C1515285 Juvenile granulosa cell tumor (morphologic abnormality) Juvenile granulosa cell tumour Juvenile type Granulosa cell tumor juvenile type granulosa cell neoplasm disease_ontology DOID:6032 juvenile type testicular granulosa cell tumor Juvenile granulosa cell tumor (morphologic abnormality) SNOMEDCT_2005_07_31:77029009 Juvenile granulosa cell tumour SNOMEDCT_2005_07_31:189735004 Juvenile type Granulosa cell tumor NCI2004_11_17:C4207 NCI:C5361 UMLS_CUI:C1332844 Fibrosarcoma of the Heart cardiac fibrosarcoma disease_ontology DOID:6033 heart fibrosarcoma Fibrosarcoma of the Heart NCI2004_11_17:C5361 A heart sarcoma that is a soft tissue sarcoma located in the heart. NCI:C5365 UMLS_CUI:C1334567 malignant hemangiopericytoma of Heart disease_ontology DOID:6034 heart malignant hemangiopericytoma A heart sarcoma that is a soft tissue sarcoma located in the heart. url:http://www.ncbi.nlm.nih.gov/pubmed/16434949 malignant hemangiopericytoma of Heart NCI2004_11_17:C5365 An ocular malanoma that derives_from melanocytes in the uveal tract that results_in_formation_of spindle-shaped cells. NCI:C7986 UMLS_CUI:C0279687 Uveal spindle cell melanoma disease_ontology DOID:6037 spindle cell intraocular melanoma An ocular malanoma that derives_from melanocytes in the uveal tract that results_in_formation_of spindle-shaped cells. url:http://www.cancer.gov/cancertopics/pdq/treatment/intraocularmelanoma/HealthProfessional/page3 Uveal spindle cell melanoma NCI2004_11_17:C7986 A uveal cancer that has_material_basis_in uvea pigment cells. MESH:C536494 NCI:C7712 OMIM:155720 OMIM:606660 OMIM:606661 ORDO:39044 UMLS_CUI:C0220633 melanoma of Uvea disease_ontology DOID:6039 Xref MGI. OMIM mapping confirmed by DO. [SN]. uveal melanoma A uveal cancer that has_material_basis_in uvea pigment cells. url:http://cancergenome.nih.gov/cancersselected/UvealMelanoma url:http://en.wikipedia.org/wiki/Uveal_melanoma melanoma of Uvea NCI2004_11_17:C7712 A malignant melanoma of choroid and spindle cell intraocular melanoma that is located_in the choroid. NCI:C6099 UMLS_CUI:C1333027 spindle cell melanoma of the Choroid disease_ontology DOID:6041 choroid spindle cell melanoma A malignant melanoma of choroid and spindle cell intraocular melanoma that is located_in the choroid. url:http://www.cancer.gov/cancertopics/pdq/treatment/intraocularmelanoma/HealthProfessional/allpages/print spindle cell melanoma of the Choroid NCI2004_11_17:C6099 A spindle intraocular melanoma that is located_in the ciliary body. NCI:C6117 UMLS_CUI:C1333052 spindle cell melanoma of the Ciliary body disease_ontology DOID:6043 ciliary body spindle cell melanoma A spindle intraocular melanoma that is located_in the ciliary body. url:http://www.cancer.gov/cancertopics/pdq/treatment/intraocularmelanoma/HealthProfessional/page5 spindle cell melanoma of the Ciliary body NCI2004_11_17:C6117 A Human immunodeficiency virus infectious disease that results_in microvascular changes located_in retina, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom cotton-wool spots, has_symptom retinal hemorrhages, and has_symptom microaneurysms. disease_ontology DOID:6045 AIDS retinopathy true A Human immunodeficiency virus infectious disease that results_in microvascular changes located_in retina, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom cotton-wool spots, has_symptom retinal hemorrhages, and has_symptom microaneurysms. url:http://books.google.com/books?id=GP0MEhqMvusC&pg=PA146&lpg=PA146&dq url:http://www.ophthobook.com/chapters/infections NCI:C5345 UMLS_CUI:C1336699 disease_ontology DOID:6048 telangiectatic glomangioma A specific phobia that is characterized by a fear of flying. NCI:C35413 SNOMEDCT_US_2016_03_01:192045005 SNOMEDCT_US_2016_03_01:247854002 UMLS_CUI:C0344318 disease_ontology DOID:605 flying phobia A specific phobia that is characterized by a fear of flying. url:http://en.wikipedia.org/wiki/Fear_of_flying A gastrointestinal system disease that is located_in the esophagus. DOID:10117 DOID:10118 DOID:11798 ICD10CM:K22.9 ICD9CM:530 ICD9CM:530.9 MESH:D004935 NCI:C3027 SNOMEDCT_US_2016_03_01:155671005 SNOMEDCT_US_2016_03_01:155680005 SNOMEDCT_US_2016_03_01:196626000 SNOMEDCT_US_2016_03_01:266497000 SNOMEDCT_US_2016_03_01:37657006 UMLS_CUI:C0014852 esophageal Ulcer disease_ontology DOID:6050 esophageal disease A gastrointestinal system disease that is located_in the esophagus. url:http://en.wikipedia.org/wiki/Esophageal_disease esophageal Ulcer NCI2004_11_17:C26950 NCI:C6205 UMLS_CUI:C0278754 pediatric germ cell neoplasm of CNS disease_ontology DOID:6052 central nervous system childhood germ cell tumor pediatric germ cell neoplasm of CNS NCI2004_11_17:C6205 NCI:C7928 UMLS_CUI:C0279014 pediatric germ cell neoplasm disease_ontology pediatric germ cell tumor DOID:6053 pediatric germ cell cancer pediatric germ cell neoplasm NCI2004_11_17:C7928 NCI:C6837 UMLS_CUI:C1333645 Schneiderian papilloma of the Frontal sinus disease_ontology DOID:6054 frontal sinus Schneiderian papilloma Schneiderian papilloma of the Frontal sinus NCI2004_11_17:C6837 Schneiderian papilloma of Accessory sinus disease_ontology DOID:6055 paranasal sinus Schneiderian papilloma true Schneiderian papilloma of Accessory sinus NCI2004_11_17:C6835 NCI:C4369 SNOMEDCT_US_2016_03_01:232364006 UMLS_CUI:C0339826 papilloma of nasal vestibule (disorder) squamous papilloma of the nasal Vestibule disease_ontology DOID:6059 nasal vestibule papilloma papilloma of nasal vestibule (disorder) SNOMEDCT_2005_07_31:232364006 squamous papilloma of the nasal Vestibule NCI2004_11_17:C4369 ICD10CM:G83.81 MESH:D018437 NCI:C84601 SNOMEDCT_US_2016_03_01:27982003 UMLS_CUI:C0242644 Brown-Squard syndrome (disorder) disease_ontology DOID:606 Brown-Sequard syndrome Brown-Squard syndrome (disorder) SNOMEDCT_2005_07_31:27982003 NCI:C39854 UMLS_CUI:C1518361 disease_ontology DOID:6065 urinary tract non-invasive transitional cell neoplasm DOID:3712 NCI:C40033 NCI:C5242 SNOMEDCT_US_2016_03_01:189683008 UMLS_CUI:C1335168 UMLS_CUI:C1518233 Ovarian mucinous tumor malignant ovarian mucinous neoplasm mucinous tumor of Ovary disease_ontology DOID:6067 ovarian mucinous neoplasm Ovarian mucinous tumor SNOMEDCT_2005_07_31:189683008 mucinous tumor of Ovary NCI2004_11_17:C5242 ICD10CM:G82.2 ICD10CM:G82.20 ICD9CM:344.1 MESH:D010264 NCI:C50687 SNOMEDCT_US_2016_03_01:155031004 SNOMEDCT_US_2016_03_01:60389000 UMLS_CUI:C0030486 Paraplegia, lower disease_ontology DOID:607 paraplegia Paraplegia, lower MTHICD9_2006:344.1 disease_ontology DOID:6071 resectable duodenal carcinoma true disease_ontology DOID:6077 localized malignant mesothelioma true disease_ontology DOID:6078 secondary malignant neoplasm to the nervous system true Drop metastatic tumor to the Spinal Cord disease_ontology DOID:6079 drop secondary malignant neoplasm to the spinal cord true Drop metastatic tumor to the Spinal Cord NCI2004_11_17:C5439 metastatic tumor to the Spinal Cord secondary malignant neoplasm of spinal cord (disorder) disease_ontology DOID:6080 spinal cord secondary cancer true metastatic tumor to the Spinal Cord NCI2004_11_17:C4585 secondary malignant neoplasm of spinal cord (disorder) SNOMEDCT_2005_07_31:94600009 pediatric testicular Yolk Sac tumor disease_ontology DOID:6081 childhood testicular endodermal sinus neoplasm true pediatric testicular Yolk Sac tumor NCI2004_11_17:C6543 NCI:C6552 UMLS_CUI:C0796663 pediatric testicular germ cell neoplasm disease_ontology DOID:6082 pediatric testicular germ cell tumor pediatric testicular germ cell neoplasm NCI2004_11_17:C6552 NCI:C6551 UMLS_CUI:C1332993 childhood ovarian endodermal sinus neoplasm pediatric Ovarian Yolk Sac tumor disease_ontology DOID:6083 childhood ovarian endodermal sinus tumor pediatric Ovarian Yolk Sac tumor NCI2004_11_17:C6551 NCI:C8588 UMLS_CUI:C0796664 pediatric Ovarian germ cell neoplasm disease_ontology DOID:6084 pediatric ovarian germ cell tumor pediatric Ovarian germ cell neoplasm NCI2004_11_17:C8588 NCI:C5317 UMLS_CUI:C1334386 melanoma of the leptomeninges disease_ontology DOID:6085 meningeal melanoma NCI:C8506 UMLS_CUI:C1334596 malignant tumor of Leptomeninges disease_ontology DOID:6086 malignant leptomeningeal tumor malignant tumor of Leptomeninges NCI2004_11_17:C8506 disease_ontology DOID:6087 predominant disturbance of emotions true An anxiety disorder that has_symptom flashbacks, has_symptom bad dreams, has_symptom frightening thoughts, has_symptom avoidance or has_symptom hyperarousal of PTSD occurring within one month of a traumatic experience as Acute Stress Disorder or ASD. ICD9CM:308.3 SNOMEDCT_US_2016_03_01:192040000 SNOMEDCT_US_2016_03_01:192043003 UMLS_CUI:C0029488 traumatic stress disorder disease_ontology DOID:6088 acute stress disorder An anxiety disorder that has_symptom flashbacks, has_symptom bad dreams, has_symptom frightening thoughts, has_symptom avoidance or has_symptom hyperarousal of PTSD occurring within one month of a traumatic experience as Acute Stress Disorder or ASD. url:http://ptsd.about.com/od/causesanddevelopment/a/acutestress.htm NCI:C5318 UMLS_CUI:C1332976 disease_ontology DOID:6089 pediatric leptomeningeal melanoma disease_ontology DOID:609 skin abnormality true NCI:C5319 UMLS_CUI:C1332204 melanoma of adult Leptomeninges disease_ontology DOID:6090 adult leptomeningeal melanoma melanoma of adult Leptomeninges NCI2004_11_17:C5319 disease_ontology DOID:6091 ampulla of vater intestinal type adenocarcinoma true DOID:6096 NCI:C4576 NCI:C6221 SNOMEDCT_US_2016_03_01:188287005 UMLS_CUI:C0346902 UMLS_CUI:C1336733 malignant neoplasm of thalamus malignant neoplasm of thalamus (disorder) malignant tumor of Thalamus tumor of Thalamus disease_ontology DOID:6098 thalamic neoplasm malignant neoplasm of thalamus (disorder) SNOMEDCT_2005_07_31:188287005 malignant tumor of Thalamus NCI2004_11_17:C4576 tumor of Thalamus NCI2004_11_17:C6221 DOID:11505 DOID:58 DOID:59 ICD10CM:I05 ICD10CM:I05.1 ICD10CM:I05.9 ICD9CM:394 ICD9CM:394.1 ICD9CM:424.0 NCI:C78446 SNOMEDCT_US_2016_03_01:11851006 SNOMEDCT_US_2016_03_01:155276006 SNOMEDCT_US_2016_03_01:155278007 SNOMEDCT_US_2016_03_01:155279004 SNOMEDCT_US_2016_03_01:194724009 SNOMEDCT_US_2016_03_01:194729004 SNOMEDCT_US_2016_03_01:194982000 SNOMEDCT_US_2016_03_01:250998008 SNOMEDCT_US_2016_03_01:266278002 SNOMEDCT_US_2016_03_01:266279005 SNOMEDCT_US_2016_03_01:31085000 SNOMEDCT_US_2016_03_01:83898004 UMLS_CUI:C0026265 UMLS_CUI:C0155563 UMLS_CUI:C0264765 Mitral RH valve dis. Rheumatic disease of mitral valve (disorder) Rheumatic mitral insufficiency Rheumatic mitral valve changes Rheumatic mitral valve regurgitation chronic rheumatic mitral valve (disorder) disease of mitral valve rheumatic disease of mitral valve rheumatic mitral valve incompetence disease_ontology DOID:61 mitral valve disease Mitral RH valve dis. SNOMEDCT_2005_07_31:155276006 SNOMEDCT_2005_07_31:266278002 Rheumatic disease of mitral valve (disorder) SNOMEDCT_2005_07_31:83898004 Rheumatic mitral insufficiency ICD9CM_2006:394.1 SNOMEDCT_2005_07_31:155279004 SNOMEDCT_2005_07_31:266279005 Rheumatic mitral valve changes SNOMEDCT_2005_07_31:250998008 Rheumatic mitral valve regurgitation MTHICD9_2006:394.1 chronic rheumatic mitral valve (disorder) SNOMEDCT_2005_07_31:286947004 disease of mitral valve ICD9CM_2006:394 NCI:C40205 UMLS_CUI:C1516424 disease_ontology DOID:6101 signet ring cell variant cervical mucinous adenocarcinoma A viral gastritis that involves inflammation of the stomach lining caused by herpes simplex virus. NCI:C27341 UMLS_CUI:C1333996 disease_ontology DOID:6102 herpetic gastritis A viral gastritis that involves inflammation of the stomach lining caused by herpes simplex virus. url:http://www.ncbi.nlm.nih.gov/pubmed/1063088 NCI:C5297 UMLS_CUI:C1336738 meningioma of the Thoracic Spinal canal and Spinal Cord disease_ontology DOID:6103 thoracic spinal canal and spinal cord meningioma meningioma of the Thoracic Spinal canal and Spinal Cord NCI2004_11_17:C5297 Teratocarcinoma of mediastinum disease_ontology DOID:6104 mixed embryonal carcinoma and teratoma of the mediastinum true Teratocarcinoma of mediastinum NCI2004_11_17:C6442 malignant mediastinal teratoma malignant teratoma of mediastinum (disorder) disease_ontology DOID:6105 mediastinum malignant teratoma true malignant mediastinal teratoma NCI2004_11_17:C4668 malignant teratoma of mediastinum (disorder) SNOMEDCT_2005_07_31:278042005 mixed Non-Seminomatous germ cell tumor of mediastinum disease_ontology DOID:6107 mediastinal mixed non-seminomatous germ cell tumor true mixed Non-Seminomatous germ cell tumor of mediastinum NCI2004_11_17:C6444 mesenchymal hamartoma of Liver disease_ontology DOID:6108 mesenchymal hamartoma of the liver true mesenchymal hamartoma of Liver NCI2004_11_17:C5751 disease_ontology DOID:6109 hepatic and intrahepatic bile duct non-epithelial neoplasm true disease_ontology DOID:611 leukocyte-adhesion deficiency syndrome true NCI:C5293 UMLS_CUI:C1334298 meningioma of the Jugular Foramen disease_ontology DOID:6110 jugular foramen meningioma meningioma of the Jugular Foramen NCI2004_11_17:C5293 tumor of Jugular Foramen disease_ontology DOID:6111 jugular foramen neoplasm true tumor of Jugular Foramen NCI2004_11_17:C5589 NCI:C4807 SNOMEDCT_US_2016_03_01:189164002 UMLS_CUI:C0542564 Cerebral meningioma (disorder) meningioma of Cerebrum disease_ontology DOID:6112 cerebral meningioma Cerebral meningioma (disorder) SNOMEDCT_2005_07_31:189164002 meningioma of Cerebrum NCI2004_11_17:C4807 NCI:C5269 UMLS_CUI:C1334236 disease_ontology DOID:6113 intracerebral cystic meningioma MESH:D008579 NCI:C4959 UMLS_CUI:C0751303 Cerebral Hemispheric Convexity meningioma disease_ontology DOID:6114 cerebral convexity meningioma Cerebral Hemispheric Convexity meningioma NCI2004_11_17:C4959 NCI:C5302 UMLS_CUI:C1334380 meningioma of the Lateral Ventricle disease_ontology DOID:6115 lateral ventricle meningioma meningioma of the Lateral Ventricle NCI2004_11_17:C5302 NCI:C6187 UMLS_CUI:C1335751 Inverted papilloma of the kidney Pelvis disease_ontology DOID:6118 renal pelvis inverted papilloma Inverted papilloma of the kidney Pelvis NCI2004_11_17:C6187 NCI:C4528 UMLS_CUI:C1514844 disease_ontology DOID:6119 renal pelvis urothelial papilloma An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation. ICD10CM:D84.9 ICD9CM:279.3 KEGG:05340 MESH:D007153 NCI:C3131 NCI:C39725 OMIM:242850 SNOMEDCT_US_2016_03_01:191005003 SNOMEDCT_US_2016_03_01:234532001 SNOMEDCT_US_2016_03_01:64431000 UMLS_CUI:C0021051 hypoimmunity immune deficiency disorder immunodeficiency syndrome disease_ontology DOID:612 Xref MGI. primary immunodeficiency disease An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation. url:http://www.nichd.nih.gov/publications/pubs/primary_immuno.cfm#PrimaryImmunoDiseases hypoimmunity CSP2005:1553-9570 immune deficiency disorder CSP2005:1560-5885 immunodeficiency syndrome NCI2004_11_17:C3131 An anal carcinoma that represents a group of cancers that are frequently diagnosed in people with HIV/AIDS. disease_ontology DOID:6122 AIDS-related anal cancer true An anal carcinoma that represents a group of cancers that are frequently diagnosed in people with HIV/AIDS. url:http://cancer.about.com/od/cancerlistaz/a/AIDS_related.htm An anal canal cancer that derives_from epithelial cells. MESH:C563020 NCI:C7489 OMIM:105580 SNOMEDCT_US_2016_03_01:285310000 UMLS_CUI:C0563211 anal canal and Perianal gland carcinoma carcinoma of anal canal (disorder) disease_ontology carcinoma of anal canal DOID:6126 OMIM mapping confirmed by DO. [SN]. anal canal carcinoma An anal canal cancer that derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma url:http://www.cancer.org/docroot/CRI/content/CRI_2_4_1X_What_is_anal_cancer_47.asp anal canal and Perianal gland carcinoma NCI2004_11_17:C7489 carcinoma of anal canal (disorder) SNOMEDCT_2005_07_31:285310000 MESH:D018302 NCI:C4318 SNOMEDCT_US_2016_03_01:26138003 UMLS_CUI:C0334576 Astrocytosis cerebri Gliomatosis cerebri (morphologic abnormality) disease_ontology DOID:6128 gliomatosis cerebri Astrocytosis cerebri NCI2004_11_17:C4318 Gliomatosis cerebri (morphologic abnormality) SNOMEDCT_2005_07_31:26138003 NCI:C27145 SNOMEDCT_US_2016_03_01:402792003 UMLS_CUI:C1274233 T-cell Immunodeficiency T-lymphocyte deficiency (finding) T-lymphocyte immunodeficiency (disorder) disease_ontology DOID:613 T lymphocyte deficiency T-cell Immunodeficiency NCI2004_11_17:C27145 T-lymphocyte deficiency (finding) SNOMEDCT_2005_07_31:398055000 T-lymphocyte immunodeficiency (disorder) SNOMEDCT_2005_07_31:402792003 A bronchial disease that is an inflammation of the bronchial tubes. It is caused by bacteria and viruses. The disease has_symptom cough with mucus, has_symptom shortness of breath, has_symptom low fever and has_symptom chest tightness. DOID:13503 DOID:13504 DOID:13707 DOID:13728 DOID:13729 DOID:5049 DOID:6130 DOID:6131 DOID:9982 DOID:9983 CSP:2596-1500 ICD10CM:J20 ICD10CM:J20.9 ICD10CM:J40 ICD10CM:J42 ICD9CM:466.0 ICD9CM:490 ICD9CM:491 ICD9CM:491.9 MESH:D001991 MESH:D029481 NCI:C26722 NCI:C26932 NCI:C2911 SNOMEDCT_US_2016_03_01:10509002 SNOMEDCT_US_2016_03_01:155512004 SNOMEDCT_US_2016_03_01:155515002 SNOMEDCT_US_2016_03_01:155566007 SNOMEDCT_US_2016_03_01:155572007 SNOMEDCT_US_2016_03_01:155616009 SNOMEDCT_US_2016_03_01:195713004 SNOMEDCT_US_2016_03_01:195733000 SNOMEDCT_US_2016_03_01:195936003 SNOMEDCT_US_2016_03_01:195940007 SNOMEDCT_US_2016_03_01:195956002 SNOMEDCT_US_2016_03_01:266354009 SNOMEDCT_US_2016_03_01:266380005 SNOMEDCT_US_2016_03_01:266395007 SNOMEDCT_US_2016_03_01:32398004 SNOMEDCT_US_2016_03_01:35301006 SNOMEDCT_US_2016_03_01:63480004 UMLS_CUI:C0006277 UMLS_CUI:C0008677 UMLS_CUI:C0149514 CI - Chest infection Chest infection acute Bronchitis chest cold chronic bronchitis recurrent wheezy bronchitis disease_ontology acute bronchitis and bronchiolitis DOID:6132 bronchitis A bronchial disease that is an inflammation of the bronchial tubes. It is caused by bacteria and viruses. The disease has_symptom cough with mucus, has_symptom shortness of breath, has_symptom low fever and has_symptom chest tightness. url:http://www.nhlbi.nih.gov/health/dci/Diseases/brnchi/brnchi_whatis.html url:http://www.nlm.nih.gov/medlineplus/bronchitis.html url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bronchitis CI - Chest infection SNOMEDCT_2005_07_31:266340001 Chest infection SNOMEDCT_2005_07_31:266339003 acute Bronchitis NCI2004_11_17:C26932 recurrent wheezy bronchitis SNOMEDCT_2005_07_31:195936003 NCI:C40174 UMLS_CUI:C1519851 disease_ontology DOID:6139 uterine corpus epithelioid leiomyosarcoma A leukopenia that is the condition of having an abnormally low level of lymphocytes in the blood. ICD10CM:D72.810 ICD9CM:288.51 MESH:D008231 SNOMEDCT_US_2016_03_01:48813009 UMLS_CUI:C0024312 Lymphocytopenia disease_ontology DOID:614 lymphopenia A leukopenia that is the condition of having an abnormally low level of lymphocytes in the blood. url:http://en.wikipedia.org/wiki/Lymphopenia Lymphocytopenia MTHICD9_2006:288.8 ICD10CM:D02.3 NCI:C4589 SNOMEDCT_US_2016_03_01:92663007 UMLS_CUI:C0347095 carcinoma in situ of nasal cavities carcinoma in situ of nasal cavity stage 0 carcinoma of the nasal cavity disease_ontology DOID:6148 nasal cavity carcinoma in situ carcinoma in situ of nasal cavities MTHICD9_2006:231.8 carcinoma in situ of nasal cavity SNOMEDCT_2005_07_31:92663007 stage 0 carcinoma of the nasal cavity NCI2004_11_17:C4589 A leukocyte disorder that is a decrease in the number of white blood cells (leukocytes) found in the blood, which places individuals at increased risk of infection. ICD10CM:D72.819 ICD9CM:288.50 MESH:D007970 SNOMEDCT_US_2016_03_01:142917003 SNOMEDCT_US_2016_03_01:191348003 SNOMEDCT_US_2016_03_01:84828003 UMLS_CUI:C0023530 Leucopenia disease_ontology DOID:615 leukopenia A leukocyte disorder that is a decrease in the number of white blood cells (leukocytes) found in the blood, which places individuals at increased risk of infection. url:http://en.wikipedia.org/wiki/Leukopenia Leucopenia SNOMEDCT_2005_07_31:191348003 A Retroviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Deltaretrovirus, which is transmitted_by congenital method, and transmitted_by sexual contact. disease_ontology DOID:616 Deltaretrovirus infectious disease true A Retroviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Deltaretrovirus, which is transmitted_by congenital method, and transmitted_by sexual contact. url:http://www.expasy.org/viralzone/all_by_species/91.html NCI:C6544 UMLS_CUI:C1333006 pediatric testicular Choriocarcinoma disease_ontology DOID:6160 childhood choriocarcinoma of the testis pediatric testicular Choriocarcinoma NCI2004_11_17:C6544 NCI:C6542 UMLS_CUI:C1333009 pediatric testicular mixed germ cell tumor disease_ontology DOID:6161 childhood testicular mixed germ cell tumor pediatric testicular mixed germ cell tumor NCI2004_11_17:C6542 An embryonal testis carcinoma that occurs in children. NCI:C6545 UMLS_CUI:C1333007 pediatric testicular Embryonal carcinoma disease_ontology childhood embryonal carcinoma of the testis DOID:6162 childhood embryonal testis carcinoma An embryonal testis carcinoma that occurs in children. url:http://en.wikipedia.org/wiki/Embryonal_carcinoma#Testicular_embryonal_carcinoma pediatric testicular Embryonal carcinoma NCI2004_11_17:C6545 NCI:C9222 UMLS_CUI:C0879257 Hereditary Papillary renal carcinoma disease_ontology DOID:6163 familial renal papillary carcinoma Hereditary Papillary renal carcinoma NCI2004_11_17:C9222 NCI:C39900 UMLS_CUI:C1514522 disease_ontology DOID:6166 prostatic urethra urothelial carcinoma NCI:C39870 UMLS_CUI:C1514523 disease_ontology DOID:6167 prostatic urethral cancer A ssRNA-RT virus infectious disease that results_in infection in animals and humans, has_material_basis_in Retroviridae viruses. Retroviridae disease disease due to Retroviridae (disorder) disease_ontology DOID:617 Retroviridae infectious disease true A ssRNA-RT virus infectious disease that results_in infection in animals and humans, has_material_basis_in Retroviridae viruses. url:http://en.wikipedia.org/wiki/Retroviridae Retroviridae disease CSP2005:3100-1695 disease due to Retroviridae (disorder) SNOMEDCT_2005_07_31:105635000 NCI:C9192 SNOMEDCT_US_2016_03_01:702368000 UMLS_CUI:C0392998 Ovarian MMMT ovarian malignant mesodermal (mullerian) mixed tumor ovarian malignant mixed Mullerian tumor disease_ontology DOID:6170 ovarian carcinosarcoma Ovarian MMMT NCI2004_11_17:C9192 A uterine body mixed cancer that has_material_basis_in both endometrial carcinoma and sarcoma. NCI:C42700 SNOMEDCT_US_2016_03_01:702369008 UMLS_CUI:C0280630 mixed mullerian sarcoma of uterus disease_ontology DOID:6171 uterine carcinosarcoma A uterine body mixed cancer that has_material_basis_in both endometrial carcinoma and sarcoma. url:http://cancergenome.nih.gov/cancersselected/UterineCarcinosarcoma url:http://en.wikipedia.org/wiki/Carcinosarcoma mixed mullerian sarcoma of uterus NCI2004_11_17:C9180 disease_ontology DOID:6174 sporadic conventional renal cell carcinoma true NCI:C6643 UMLS_CUI:C1334679 Schwannoma of mediastinum disease_ontology DOID:6175 mediastinal neurilemmoma Schwannoma of mediastinum NCI2004_11_17:C6643 disease_ontology DOID:6178 metastatic ovarian small cell carcinoma with hypercalcemia true NCI:C27390 disease_ontology DOID:6179 ovarian small cell carcinoma A Cytomegalovirus infectious disease that results_in inflammation located_in stomach lining, has_material_basis_in Human herpesvirus 5, has_symptom dyspepsia, and has_symptom nausea and vomiting. CMV Gastritis CMV-Related Gastritis disease_ontology DOID:6180 Cytomegalovirus gastritis true A Cytomegalovirus infectious disease that results_in inflammation located_in stomach lining, has_material_basis_in Human herpesvirus 5, has_symptom dyspepsia, and has_symptom nausea and vomiting. url:http://www.merck.com/mmpe/sec02/ch013/ch013c.html?qt=gastritis&alt=sh CMV-Related Gastritis NCI2004_11_17:C27217 disease_ontology DOID:6184 squamous cell carcinoma of unknown primary true Duncan's syndrome disease_ontology DOID:619 lymphoproliferative disease true Duncan's syndrome SNOMEDCT_2005_07_31:77121009 A sarcoma of the rectum that results_in lesions that are located_in the rectum. NCI:C5550 UMLS_CUI:C1335681 Kaposi's sarcoma of rectum rectum Kaposi sarcoma disease_ontology DOID:6190 rectum Kaposi's sarcoma A sarcoma of the rectum that results_in lesions that are located_in the rectum. url:http://www.cancer.org/docroot/cri/content/cri_2_4_3x_how_is_kaposis_sarcoma_diagnosed_21.asp Kaposi's sarcoma of rectum NCI2004_11_17:C5550 NCI:C6497 UMLS_CUI:C1334180 Xanthosarcoma disease_ontology DOID:6192 inflammatory MFH Xanthosarcoma NCI2004_11_17:C6497 MESH:D012509 NCI:C3714 SNOMEDCT_US_2016_03_01:59238007 UMLS_CUI:C0205944 epithelioid cell sarcoma epithelioid sarcoma (morphologic abnormality) disease_ontology DOID:6193 epithelioid sarcoma epithelioid cell sarcoma NCI2004_11_17:C3714 epithelioid sarcoma (morphologic abnormality) SNOMEDCT_2005_07_31:59238007 A conjunctival disease characterized by an inflammation of the conjunctiva, the outermost layer of the eye and the inner surface of the eyelids. ICD10CM:H10 ICD10CM:H10.9 ICD9CM:372.30 MESH:D003231 NCI:C34504 SNOMEDCT_US_2016_03_01:193857008 SNOMEDCT_US_2016_03_01:193858003 SNOMEDCT_US_2016_03_01:193875009 SNOMEDCT_US_2016_03_01:9826008 UMLS_CUI:C0009763 disease_ontology Madras eye DOID:6195 conjunctivitis A conjunctival disease characterized by an inflammation of the conjunctiva, the outermost layer of the eye and the inner surface of the eyelids. url:http://en.wikipedia.org/wiki/Conjunctivitis url:http://www.merck.com/mmhe/sec20/ch229/ch229b.html#sec20-ch229-ch229b-216 An arthritis that is an autoimmune disease which develops due to an infection located elsewhere in the body. DOID:10148 DOID:11891 DOID:13318 DOID:13519 DOID:13782 DOID:13783 DOID:13784 DOID:13785 DOID:6194 DOID:9760 ICD10CM:M02.1 ICD10CM:M02.10 ICD10CM:M02.3 ICD10CM:M02.30 ICD9CM:099.3 ICD9CM:711.3 ICD9CM:711.30 MESH:D016918 NCI:C34975 SNOMEDCT_US_2016_03_01:154389006 SNOMEDCT_US_2016_03_01:154390002 SNOMEDCT_US_2016_03_01:201496000 SNOMEDCT_US_2016_03_01:201506009 SNOMEDCT_US_2016_03_01:266212009 SNOMEDCT_US_2016_03_01:56528004 SNOMEDCT_US_2016_03_01:67224007 UMLS_CUI:C0035012 UMLS_CUI:C0152085 Fiessinger Leroy Reiter syndrome Post-bacterial arthropathy Reactive arthritis Reiter disease Reiter's disease postdysenteric arthropathy disease_ontology DOID:6196 reactive arthritis An arthritis that is an autoimmune disease which develops due to an infection located elsewhere in the body. url:http://emedicine.medscape.com/article/331347-overview url:http://en.wikipedia.org/wiki/Reactive_arthritis url:http://www.about-reactive-arthritis.com/ url:http://www.mayoclinic.com/health/reactive-arthritis/DS00486/DSECTION=causes url:http://www.nlm.nih.gov/medlineplus/ency/article/000440.htm Fiessinger Leroy Reiter syndrome CSP2005:0944-8011 Post-bacterial arthropathy SNOMEDCT_2005_07_31:129133005 Reactive arthritis SNOMEDCT_2005_07_31:201736002 Reiter's disease ICD9CM_2006:099.3 SNOMEDCT_2005_07_31:154390002 NCI:C9425 UMLS_CUI:C1333158 disease_ontology DOID:6197 conventional malignant hemangiopericytoma NCI:C6093 SNOMEDCT_US_2016_03_01:420835009 UMLS_CUI:C1333159 disease_ontology DOID:6198 corneal intraepithelial neoplasm DOID:12757 ICD10CM:C69.1 ICD9CM:190.4 NCI:C3565 NCI:C4361 SNOMEDCT_US_2016_03_01:126997008 SNOMEDCT_US_2016_03_01:363464006 SNOMEDCT_US_2016_03_01:93766000 UMLS_CUI:C0153629 UMLS_CUI:C0339304 Corneal tumor malignant Corneal tumor malignant neoplasm of cornea malignant neoplasm of cornea (primary) malignant tumor of cornea (disorder) neoplasm of cornea (disorder) disease_ontology DOID:6199 cornea cancer Corneal tumor NCI2004_11_17:C4361 malignant Corneal tumor NCI2004_11_17:C3565 malignant neoplasm of cornea (primary) SNOMEDCT_2005_07_31:93766000 malignant tumor of cornea (disorder) SNOMEDCT_2005_07_31:363464006 neoplasm of cornea (disorder) SNOMEDCT_2005_07_31:126997008 DOID:56 ICD9CM:395 ICD9CM:424.1 MESH:C563178 NCI:C78650 SNOMEDCT_US_2016_03_01:194988001 SNOMEDCT_US_2016_03_01:8722008 UMLS_CUI:C1260873 disease_ontology DOID:62 Updating out dated UMLS CUI. aortic valve disease MESH:D001796 UMLS_CUI:C0005830 blood protein disorder disease_ontology DOID:620 blood protein disease blood protein disorder CSP2005:0449-0541 disease_ontology DOID:6200 recurrent malignant pericardial mesothelioma true DOID:5883 DOID:7433 ICD10CM:C45.2 NCI:C7631 NCI:C7632 NCI:C8703 SNOMEDCT_US_2016_03_01:109383000 SNOMEDCT_US_2016_03_01:187885008 UMLS_CUI:C0346110 UMLS_CUI:C0854883 UMLS_CUI:C1335381 malignant Pericardial Mesothelioma malignant mesothelioma of pericardium disease_ontology DOID:6201 pericardial mesothelioma malignant Pericardial Mesothelioma NCI2004_11_17:C7631 malignant mesothelioma of pericardium SNOMEDCT_2005_07_31:187885008 relapsed malignant Mesothelioma disease_ontology DOID:6202 mesothelioma malignant recurrent true relapsed malignant Mesothelioma NCI2004_11_17:C7866 NCI:C6846 UMLS_CUI:C1336751 PLAT disease_ontology DOID:6203 thyroid hyalinizing trabecular adenoma PLAT NCI2004_11_17:C6846 MESH:D000236 SNOMEDCT_US_2016_03_01:55021007 UMLS_CUI:C0205647 Follicular adenoma (morphologic abnormality) Follicular adenoma of the Thyroid gland Thyroid follicular adenoma (disorder) disease_ontology DOID:6204 follicular adenoma Follicular adenoma (morphologic abnormality) SNOMEDCT_2005_07_31:55021007 Follicular adenoma of the Thyroid gland NCI2004_11_17:C3684 Thyroid follicular adenoma (disorder) SNOMEDCT_2005_07_31:255034006 NCI:C6615 UMLS_CUI:C1334675 Osteosarcoma of mediastinum disease_ontology DOID:6208 mediastinal osteogenic sarcoma Osteosarcoma of mediastinum NCI2004_11_17:C6615 A hemangiopericytoma and sarcoma of the mediastinum that is located_in the mediastinum. NCI:C6608 UMLS_CUI:C1334598 malignant hemangiopericytoma of mediastinum disease_ontology DOID:6209 malignant mediastinum hemangiopericytoma A hemangiopericytoma and sarcoma of the mediastinum that is located_in the mediastinum. url:http://wjso.com/content/4/1/23 malignant hemangiopericytoma of mediastinum NCI2004_11_17:C6608 A viral infectious disease that results_in infection in primates and monkeys, has_material_basis_in Simian immunodeficiency virus, which is transmitted_by sexual contact, and transmitted_by ingestion of virus-infected milk. The infection The virus attacks the immune system leading to severe depletion of CD4+ T cells. SAIDS simian lymphoproliferative syndrome disease_ontology DOID:621 simian acquired immunodeficiency syndrome true A viral infectious disease that results_in infection in primates and monkeys, has_material_basis_in Simian immunodeficiency virus, which is transmitted_by sexual contact, and transmitted_by ingestion of virus-infected milk. The infection The virus attacks the immune system leading to severe depletion of CD4+ T cells. url:http://vir.sgmjournals.org/cgi/reprint/80/7/1557.pdf SAIDS CSP2005:1560-6306 simian lymphoproliferative syndrome CSP2005:3131-3700 NCI:C39849 UMLS_CUI:C1511187 disease_ontology DOID:6210 bladder diffuse clear cell adenocarcinoma NCI:C4508 SNOMEDCT_US_2016_03_01:254855000 UMLS_CUI:C0346166 Ovarian mixed epithelial tumor mixed epithelial tumor of ovary (disorder) disease_ontology DOID:6211 mixed epithelial tumor of ovary Ovarian mixed epithelial tumor NCI2004_11_17:C4508 mixed epithelial tumor of ovary (disorder) SNOMEDCT_2005_07_31:254855000 An ovary epithelial cancer that has_material_basis_in the endometrium and is located_in the ovary. DOID:4116 NCI:C40051 NCI:C6257 UMLS_CUI:C1335159 UMLS_CUI:C1518231 endometrioid neoplasm of Ovary malignant ovarian endometrioid tumor ovarian endometrioid neoplasm disease_ontology DOID:6212 ovarian endometrial cancer An ovary epithelial cancer that has_material_basis_in the endometrium and is located_in the ovary. url:http://en.wikipedia.org/wiki/Endometrial_cancer endometrioid neoplasm of Ovary NCI2004_11_17:C6257 Ovarian serous tumor (morphologic abnormality) Ovarian serous tumour serous tumor of Ovary disease_ontology DOID:6213 ovarian serous tumor true Ovarian serous tumor (morphologic abnormality) SNOMEDCT_2005_07_31:253024004 Ovarian serous tumour SNOMEDCT_2005_07_31:189683008 serous tumor of Ovary NCI2004_11_17:C8431 NCI:C8430 SNOMEDCT_US_2016_03_01:189683008 SNOMEDCT_US_2016_03_01:253023005 UMLS_CUI:C0476121 Ovarian papillary tumor (morphologic abnormality) Ovarian papillary tumour Papillary tumor of Ovary disease_ontology DOID:6214 ovarian papillary neoplasm Ovarian papillary tumor (morphologic abnormality) SNOMEDCT_2005_07_31:253023005 Ovarian papillary tumour SNOMEDCT_2005_07_31:189683008 Papillary tumor of Ovary NCI2004_11_17:C8430 DOID:4946 NCI:C4127 NCI:C9159 SNOMEDCT_US_2016_03_01:24505004 UMLS_CUI:C0279635 UMLS_CUI:C0334280 Diffuse type adenocarcinoma adenocarcinoma of Linitis Plastica type carcinoma, diffuse type (morphologic abnormality) diffuse type carcinoma disease_ontology DOID:6217 gastric diffuse adenocarcinoma Diffuse type adenocarcinoma NCI2004_11_17:C4127 adenocarcinoma of Linitis Plastica type NCI2004_11_17:C9159 carcinoma, diffuse type (morphologic abnormality) SNOMEDCT_2005_07_31:24505004 A Retroviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Lentivirus, which is transmitted_by sexual contact, transmitted_by breast feeding, and transmitted_by contact of infected blood with any open wound. Lentivirus disease disease_ontology DOID:622 Lentivirus infectious disease true A Retroviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Lentivirus, which is transmitted_by sexual contact, transmitted_by breast feeding, and transmitted_by contact of infected blood with any open wound. url:http://www.expasy.ch/viralzone/all_by_species/264.html Lentivirus disease CSP2005:3100-1695 NCI:C7035 UMLS_CUI:C1333764 gastric Cronkhite Canada polyposis disease_ontology DOID:6225 Cronkhite-Canada syndrome DOID:6226 DOID:9366 DOID:9871 DOID:9872 DOID:9873 DOID:9874 DOID:9875 ICD9CM:718.0 ICD9CM:718.00 SNOMEDCT_US_2016_03_01:156523007 SNOMEDCT_US_2016_03_01:202132006 SNOMEDCT_US_2016_03_01:202145005 SNOMEDCT_US_2016_03_01:268062001 SNOMEDCT_US_2016_03_01:287014004 SNOMEDCT_US_2016_03_01:53417006 UMLS_CUI:C0158073 Articular cartilage disorder involving ankle and foot Articular cartilage disorder involving forearm Articular cartilage disorder involving hand Articular cartilage disorder involving multiple sites Articular cartilage disorder involving pelvic region and thigh Articular cartilage disorder involving shoulder region Articular cartilage disorder involving upper arm Articular cartilage disorder of ankle and/or foot (disorder) Articular cartilage disorder of forearm Articular cartilage disorder of forearm (disorder) Articular cartilage disorder of hand Articular cartilage disorder of hand (disorder) Articular cartilage disorder of multiple sites Articular cartilage disorder of multiple sites (disorder) Articular cartilage disorder of shoulder region Articular cartilage disorder of shoulder region (disorder) Articular cartilage disorder of the ankle and foot (disorder) Articular cartilage disorder of the forearm (disorder) Articular cartilage disorder of the hand (disorder) Articular cartilage disorder of the pelvic region and thigh Articular cartilage disorder of the pelvic region and thigh (disorder) Articular cartilage disorder of the shoulder region (disorder) Articular cartilage disorder of the upper arm (disorder) Articular cartilage disorder of upper arm Articular cartilage disorder of upper arm (disorder) articular cartilage disorder of ankle and/or foot disease_ontology DOID:6227 articular cartilage disease Articular cartilage disorder involving ankle and foot ICD9CM_2006:718.07 Articular cartilage disorder involving forearm ICD9CM_2006:718.03 Articular cartilage disorder involving hand ICD9CM_2006:718.04 Articular cartilage disorder involving multiple sites ICD9CM_2006:718.09 Articular cartilage disorder involving pelvic region and thigh ICD9CM_2006:718.05 Articular cartilage disorder involving shoulder region ICD9CM_2006:718.01 Articular cartilage disorder involving upper arm ICD9CM_2006:718.02 Articular cartilage disorder of ankle and/or foot (disorder) SNOMEDCT_2005_07_31:84970007 Articular cartilage disorder of forearm (disorder) SNOMEDCT_2005_07_31:936009 Articular cartilage disorder of hand (disorder) SNOMEDCT_2005_07_31:90068007 Articular cartilage disorder of multiple sites (disorder) SNOMEDCT_2005_07_31:84097002 Articular cartilage disorder of shoulder region (disorder) SNOMEDCT_2005_07_31:16547002 Articular cartilage disorder of the ankle and foot (disorder) SNOMEDCT_2005_07_31:202138005 Articular cartilage disorder of the forearm (disorder) SNOMEDCT_2005_07_31:202135008 Articular cartilage disorder of the hand (disorder) SNOMEDCT_2005_07_31:202136009 Articular cartilage disorder of the pelvic region and thigh (disorder) SNOMEDCT_2005_07_31:202137000 Articular cartilage disorder of the shoulder region (disorder) SNOMEDCT_2005_07_31:202133001 Articular cartilage disorder of the upper arm (disorder) SNOMEDCT_2005_07_31:202134007 Articular cartilage disorder of upper arm (disorder) SNOMEDCT_2005_07_31:9051008 NCI:C7695 SNOMEDCT_US_2016_03_01:15674004 UMLS_CUI:C1368918 primary serous papillary carcinoma of peritoneum disease_ontology DOID:6228 peritoneal serous papillary adenocarcinoma primary serous papillary carcinoma of peritoneum SNOMEDCT_2005_07_31:15674004 NCI:C6548 UMLS_CUI:C1332991 pediatric Mature teratoma of Ovary disease_ontology DOID:6229 childhood mature teratoma of the ovary pediatric Mature teratoma of Ovary NCI2004_11_17:C6548 NCI:C6554 UMLS_CUI:C1332992 pediatric teratoma of Ovary disease_ontology DOID:6230 childhood teratoma of the ovary pediatric teratoma of Ovary NCI2004_11_17:C6554 NCI:C8112 UMLS_CUI:C1334637 Mature teratoma of Ovary disease_ontology DOID:6231 mature teratoma of the ovary Mature teratoma of Ovary NCI2004_11_17:C8112 NCI:C39992 UMLS_CUI:C1518691 disease_ontology DOID:6232 ovarian biphasic or triphasic teratoma DOID:6238 NCI:C27884 NCI:C39831 SNOMEDCT_US_2016_03_01:128625004 UMLS_CUI:C1266010 UMLS_CUI:C1518358 Papillary urothelial neoplasm of low malignant potential bladder PUNLMP bladder papillary neoplasm of low malignant potential disease_ontology DOID:6239 non-invasive bladder papillary urothelial neoplasm Papillary urothelial neoplasm of low malignant potential SNOMEDCT_2005_07_31:128625004 bladder PUNLMP NCI2004_11_17:C27884 ICD10CM:D80.7 NCI:C27071 SNOMEDCT_US_2016_03_01:88714009 UMLS_CUI:C0272238 Transient Hypogammaglobulinemia of Infancy Transient hypogammaglobulinemia of infancy (disorder) disease_ontology DOID:624 transient hypogammaglobulinemia of infancy Transient Hypogammaglobulinemia of Infancy NCI2004_11_17:C27071 Transient hypogammaglobulinemia of infancy (disorder) SNOMEDCT_2005_07_31:88714009 disease_ontology DOID:6240 transitional cell intraepithelial neoplasm true NCI:C8960 UMLS_CUI:C0879606 disease_ontology DOID:6244 familial renal oncocytoma MESH:C537750 NCI:C4526 OMIM:553000 SNOMEDCT_US_2016_03_01:254922006 UMLS_CUI:C0346255 Oncocytoma of kidney (disorder) renal epithelial Oncocytic tumor disease_ontology DOID:6245 OMIM mapping confirmed by DO. [SN]. renal oncocytoma Oncocytoma of kidney (disorder) SNOMEDCT_2005_07_31:254922006 renal epithelial Oncocytic tumor NCI2004_11_17:C4526 Oncocytic tumor disease_ontology DOID:6246 OMIM mapping confirmed by DO. [LS]. oncocytic neoplasm true Oncocytic tumor NCI2004_11_17:C7072 NCI:C6812 UMLS_CUI:C1334680 Seminoma of mediastinum disease_ontology DOID:6249 mediastinum seminoma Seminoma of mediastinum NCI2004_11_17:C6812 NCI:C27319 UMLS_CUI:C0859960 disease_ontology DOID:625 transient hypogammaglobulinemia An Epstein-Barr virus infectious disease and is_a carcinoma that derives_from epithelial cells, has_material_basis_in Human herpesvirus 4, which causes a growth activation of the epithelial cells that it infects. EBV Related carcinoma disease_ontology DOID:6250 Epstein-Barr virus related carcinoma true An Epstein-Barr virus infectious disease and is_a carcinoma that derives_from epithelial cells, has_material_basis_in Human herpesvirus 4, which causes a growth activation of the epithelial cells that it infects. url:http://www.diagnosticpathology.org/content/2/1/25 EBV Related carcinoma NCI2004_11_17:C27690 MESH:D049912 NCI:C7461 OMIM:102200 SNOMEDCT_US_2016_03_01:254957009 UMLS_CUI:C0346302 Growth Hormone Producing adenoma of the Pituitary Somatotroph adenoma (disorder) growth hormone secreting adenoma of pituitary disease_ontology DOID:6255 OMIM mapping confirmed by DO. [SN]. growth hormone secreting pituitary adenoma Growth Hormone Producing adenoma of the Pituitary NCI2004_11_17:C7461 Somatotroph adenoma (disorder) SNOMEDCT_2005_07_31:254957009 NCI:C5963 UMLS_CUI:C1334587 malignant Somatotropinoma disease_ontology DOID:6256 malignant growth hormone secreting neoplasm of pituitary malignant Somatotropinoma NCI2004_11_17:C5963 NCI:C3687 UMLS_CUI:C1518879 Papillary adenoma of the kidney disease_ontology DOID:6257 chromophil adenoma of the kidney Papillary adenoma of the kidney NCI2004_11_17:C3687 NCI:C39809 UMLS_CUI:C1519706 disease_ontology DOID:6258 type 1 papillary adenoma of the kidney NCI:C39810 UMLS_CUI:C1519710 disease_ontology DOID:6259 type 2 papillary adenoma of the kidney A primary immunodeficiency disease that is the result in a mutation of a gene encoding one of the thirty complement system proteins, produced predominantly in liver, which function to defend against infection and produce inflammation. ICD10CM:D80-D89 ICD10CM:D84.1 NCI:C4691 SNOMEDCT_US_2016_03_01:191014008 SNOMEDCT_US_2016_03_01:24743004 UMLS_CUI:C0272242 Complement deficiency Complement deficiency disease (disorder) disease_ontology DOID:626 complement deficiency A primary immunodeficiency disease that is the result in a mutation of a gene encoding one of the thirty complement system proteins, produced predominantly in liver, which function to defend against infection and produce inflammation. url:http://en.wikipedia.org/wiki/Complement_deficiency url:http://www.primaryimmune.org/publications/book_pats/e_ch01.pdf Complement deficiency NCI2004_11_17:C4691 Complement deficiency SNOMEDCT_2005_07_31:191014008 Complement deficiency disease (disorder) SNOMEDCT_2005_07_31:24743004 A dendritic cell sarcoma cancer that effects the follicular dendritic cells. ICD10CM:C96.4 MESH:D054740 NCI:C9281 SNOMEDCT_US_2016_03_01:128816008 UMLS_CUI:C1260325 Follicular Dendritic cell sarcoma Follicular dendritic cell tumour disease_ontology DOID:6262 follicular dendritic cell sarcoma A dendritic cell sarcoma cancer that effects the follicular dendritic cells. url:http://en.wikipedia.org/wiki/Follicular_dendritic_cell_sarcoma Follicular Dendritic cell sarcoma NCI2004_11_17:C9281 Follicular dendritic cell tumour SNOMEDCT_2005_07_31:128816008 MESH:D058922 NCI:C4001 SNOMEDCT_US_2016_03_01:254840009 UMLS_CUI:C0278601 Inflammatory carcinoma of breast (disorder) Mastitis carcinomatosa disease_ontology DOID:6263 inflammatory breast carcinoma Inflammatory carcinoma of breast (disorder) SNOMEDCT_2005_07_31:254840009 Mastitis carcinomatosa NCI2004_11_17:C4001 relapsed extraskeletal chondrosarcoma disease_ontology DOID:6268 recurrent extraskeletal chondrosarcoma true relapsed extraskeletal chondrosarcoma NCI2004_11_17:C8807 A combined T cell and B cell immunodeficiency that is caused by a defect in several genes encoding for B and T lymphocytes resulting in individuals with non-functional immune systems. MESH:D016511 NCI:C3472 SNOMEDCT_US_2016_03_01:190994004 SNOMEDCT_US_2016_03_01:31323000 UMLS_CUI:C0085110 SCID combined T and B cell inborn immunodeficiency disease_ontology DOID:627 severe combined immunodeficiency A combined T cell and B cell immunodeficiency that is caused by a defect in several genes encoding for B and T lymphocytes resulting in individuals with non-functional immune systems. url:http://www.merriam-webster.com/medlineplus/severe%20combined%20immunodeficiency url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gnd&part=severecombinedimmunodeficiency url:http://www.scid.net/ SCID NCI2004_11_17:C3472 combined T and B cell inborn immunodeficiency CSP2005:1560-6660 NCI:C6794 UMLS_CUI:C1333763 carcinoma of Cardia of stomach disease_ontology DOID:6270 gastric cardia carcinoma carcinoma of Cardia of stomach NCI2004_11_17:C6794 NCI:C5247 UMLS_CUI:C1333762 adenocarcinoma of Cardia of stomach disease_ontology adenocarcinoma of gastric cardia DOID:6271 gastric cardia adenocarcinoma adenocarcinoma of Cardia of stomach NCI2004_11_17:C5247 disease_ontology DOID:6273 metastasis to pituitary gland true NCI:C5965 UMLS_CUI:C1334627 malignant Thyrotropinoma disease_ontology DOID:6274 malignant thyroid stimulating hormone producing neoplasm of pituitary gland malignant Thyrotropinoma NCI2004_11_17:C5965 NCI:C8011 SNOMEDCT_US_2016_03_01:254959007 UMLS_CUI:C0346303 TSH Secreting adenoma of the Pituitary TSH Secreting tumor of Pituitary Thyrotroph adenoma (disorder) disease_ontology DOID:6275 TSH producing pituitary tumor TSH Secreting adenoma of the Pituitary NCI2004_11_17:C8011 TSH Secreting tumor of Pituitary NCI2004_11_17:C7915 Thyrotroph adenoma (disorder) SNOMEDCT_2005_07_31:254959007 NCI:C5964 UMLS_CUI:C1334556 malignant Corticotropinoma of the Pituitary disease_ontology DOID:6276 malignant ACTH producing neoplasm of pituitary gland malignant Corticotropinoma of the Pituitary NCI2004_11_17:C5964 Pituitary Corticotropin Secreting tumor disease_ontology DOID:6277 ACTH-producing pituitary tumor true Pituitary Corticotropin Secreting tumor NCI2004_11_17:C7909 NCI:C40034 ovarian mucinous adenocarcinofibroma disease_ontology DOID:6278 ovarian mucinous malignant adenofibroma A primary immunodeficiency disease that involves multiple components of the immune system, including both humoral immunity and cell-mediated immunity. ICD10CM:D81 ICD10CM:D81.9 ICD9CM:279.2 NCI:C27871 OMIM:312863 ORDO:101972 SNOMEDCT_US_2016_03_01:191003005 UMLS_CUI:C0494261 Congenital Combined Immunodeficiency X-linked combined immunodeficiency combined immunodeficiency disease_ontology DOID:628 Xref MGI. combined T cell and B cell immunodeficiency A primary immunodeficiency disease that involves multiple components of the immune system, including both humoral immunity and cell-mediated immunity. url:http://en.wikipedia.org/wiki/Combined_immunodeficiencies url:http://rarediseases.info.nih.gov/gard/7628/severe-combined-immunodeficiency/resources/1 Congenital Combined Immunodeficiency NCI2004_11_17:C27871 NCI:C6742 UMLS_CUI:C1333411 Lipoma of Epicardium disease_ontology DOID:6284 epicardium lipoma Lipoma of Epicardium NCI2004_11_17:C6742 NCI:C6741 UMLS_CUI:C1332849 Lipoma of Heart disease_ontology DOID:6285 heart lipoma Lipoma of Heart NCI2004_11_17:C6741 NCI:C6286 UMLS_CUI:C0278594 pediatric astrocytoma of Cerebellum disease_ontology DOID:6286 childhood cerebellar astrocytic neoplasm pediatric astrocytoma of Cerebellum NCI2004_11_17:C6286 relapsed pediatric astrocytoma of Cerebellum disease_ontology DOID:6287 recurrent pediatric cerebellar astrocytoma true relapsed pediatric astrocytoma of Cerebellum NCI2004_11_17:C8389 relapsed tumor of pediatric brain disease_ontology DOID:6288 recurrent childhood brain tumor true relapsed tumor of pediatric brain NCI2004_11_17:C7834 disease_ontology DOID:629 congenital disorder of natural immunity true NCI:C6220 UMLS_CUI:C1332907 Lipoma of the Cerebral Hemisphere disease_ontology DOID:6291 cerebral hemisphere lipoma Lipoma of the Cerebral Hemisphere NCI2004_11_17:C6220 disease_ontology DOID:6292 intracranial lipoma true NCI:C5451 UMLS_CUI:C1332885 Lipoma of the CNS disease_ontology DOID:6293 central nervous system lipoma Lipoma of the CNS NCI2004_11_17:C5451 NCI:C5438 UMLS_CUI:C1333160 Lipoma of the Corpus Callosum disease_ontology DOID:6294 corpus callosum lipoma Lipoma of the Corpus Callosum NCI2004_11_17:C5438 A Simplexvirus infectious disease that results_in inflammation located_in esophagus, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2. The infection has_symptom difficulty swallowing, has_symptom fever, has_symptom herpetic lesions and has_symptom painful swallowing. herpes simplex esophagitis disease_ontology DOID:6296 Herpes simplex virus esophagitis true A Simplexvirus infectious disease that results_in inflammation located_in esophagus, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2. The infection has_symptom difficulty swallowing, has_symptom fever, has_symptom herpetic lesions and has_symptom painful swallowing. url:http://en.wikipedia.org/wiki/Herpes_simplex url:http://www.nlm.nih.gov/medlineplus/ency/article/000646.htm NCI:C27108 SNOMEDCT_US_2016_03_01:235603003 UMLS_CUI:C0341110 disease_ontology DOID:6297 viral esophagitis A disease that has_material_basis_in genetic variations in the human genome. MESH:D030342 NCI:C3101 SNOMEDCT_US_2016_03_01:264530000 SNOMEDCT_US_2016_03_01:32895009 UMLS_CUI:C0019247 disease_ontology DOID:630 genetic disease A disease that has_material_basis_in genetic variations in the human genome. url:http://ghr.nlm.nih.gov/ disease_ontology basal cell carcinoma of the prostate DOID:6301 prostate basal cell carcinoma true NCI:C27804 UMLS_CUI:C1333375 disease_ontology DOID:6307 ectopic thymus metastatic Urothelial carcinoma of the renal Pelvis and Ureter disease_ontology DOID:6308 metastatic transitional cell cancer of the renal pelvis and ureter true metastatic Urothelial carcinoma of the renal Pelvis and Ureter NCI2004_11_17:C8064 ICD10CM:M79.1 ICD10CM:M79.7 MESH:D005356 NCI:C50566 NCI:C87497 SNOMEDCT_US_2016_03_01:1304004 SNOMEDCT_US_2016_03_01:13612005 SNOMEDCT_US_2016_03_01:156727006 SNOMEDCT_US_2016_03_01:203082005 SNOMEDCT_US_2016_03_01:203101004 SNOMEDCT_US_2016_03_01:203102006 SNOMEDCT_US_2016_03_01:203111006 SNOMEDCT_US_2016_03_01:203138004 SNOMEDCT_US_2016_03_01:24693007 SNOMEDCT_US_2016_03_01:247365004 SNOMEDCT_US_2016_03_01:268107007 SNOMEDCT_US_2016_03_01:56557000 UMLS_CUI:C0016053 disease_ontology DOID:631 fibromyalgia A chordoma of skull base that is located in the clivus. NCI:C5412 SNOMEDCT_US_2016_03_01:446939001 UMLS_CUI:C1333071 Chordoma of Clivus disease_ontology DOID:6312 clivus chordoma A chordoma of skull base that is located in the clivus. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1656331/ Chordoma of Clivus NCI2004_11_17:C5412 A chondroid chordoma and chordoma of the clivus that is located_in the clivus. NCI:C5426 UMLS_CUI:C1333072 Chondroid Chordoma of the Clivus disease_ontology DOID:6313 clivus chondroid chordoma A chondroid chordoma and chordoma of the clivus that is located_in the clivus. url:http://emedicine.medscape.com/article/1263740-overview Chondroid Chordoma of the Clivus NCI2004_11_17:C5426 NCI:C39996 UMLS_CUI:C1518715 disease_ontology DOID:6314 ovarian fetiform teratoma NCI:C7285 UMLS_CUI:C1335181 disease_ontology DOID:6315 ovarian solid teratoma NCI:C7719 UMLS_CUI:C0238016 Bartholin gland adenocarcinoma adenocarcinoma of the Bartholin's gland disease_ontology adenocarcinoma of bartholin's gland DOID:6316 Bartholin's gland adenocarcinoma adenocarcinoma of the Bartholin's gland NCI2004_11_17:C7719 An adamantinoma of long bone that is located_in the tibia. NCI:C8461 SNOMEDCT_US_2016_03_01:189895006 SNOMEDCT_US_2016_03_01:210233007 SNOMEDCT_US_2016_03_01:281702006 SNOMEDCT_US_2016_03_01:313417009 SNOMEDCT_US_2016_03_01:56763007 UMLS_CUI:C1273017 Tibial adamantinoma Tibial adamantinoma (disorder) Tibial adamantinoma morphology disease_ontology DOID:6322 tibial adamantinoma An adamantinoma of long bone that is located_in the tibia. url:http://emedicine.medscape.com/article/385977-overview Tibial adamantinoma NCI2004_11_17:C8461 Tibial adamantinoma SNOMEDCT_2005_07_31:189895006 Tibial adamantinoma SNOMEDCT_2005_07_31:313417009 Tibial adamantinoma (disorder) SNOMEDCT_2005_07_31:281702006 Tibial adamantinoma morphology SNOMEDCT_2005_07_31:210233007 disease_ontology DOID:6327 ovarian dermoid cyst with adenocarcinoma true disease_ontology DOID:6328 ovarian dermoid cyst with secondary carcinoma true disease_ontology DOID:6329 ovarian dermoid cyst with secondary tumor true A myopathy characterized by muscle inflammation. ICD10CM:G72.49 ICD10CM:M60 ICD10CM:M60.9 MESH:D009220 NCI:C27578 OMIM:160750 SNOMEDCT_US_2016_03_01:128496001 SNOMEDCT_US_2016_03_01:203110007 SNOMEDCT_US_2016_03_01:268108002 SNOMEDCT_US_2016_03_01:26889001 UMLS_CUI:C0027121 Inflammatory disorder of muscle (disorder) disease_ontology DOID:633 OMIM mapping confirmed by DO. [SN]. myositis A myopathy characterized by muscle inflammation. url:http://www.nlm.nih.gov/medlineplus/myositis.html url:https://en.wikipedia.org/wiki/Myositis Inflammatory disorder of muscle (disorder) SNOMEDCT_2005_07_31:128496001 NCI:C8111 SNOMEDCT_US_2016_03_01:254871000 UMLS_CUI:C0346182 Immature teratoma of ovary (disorder) malignant teratoma of Ovary disease_ontology DOID:6331 immature teratoma of ovary Immature teratoma of ovary (disorder) SNOMEDCT_2005_07_31:254871000 malignant teratoma of Ovary NCI2004_11_17:C8111 NCI:C7946 UMLS_CUI:C0279547 disease_ontology DOID:6332 adult malignant hemangiopericytoma NCI:C9183 UMLS_CUI:C1334558 adult malignant intracranial hemangiopericytoma disease_ontology DOID:6333 adult intracranial malignant hemangiopericytoma adult malignant intracranial hemangiopericytoma NCI2004_11_17:C9183 NCI:C7538 UMLS_CUI:C1332308 disease_ontology DOID:6334 anterior optic tract meningioma NCI:C5304 UMLS_CUI:C1332551 Bilateral meningioma of the optic nerve disease_ontology DOID:6335 bilateral meningioma of optic nerve Bilateral meningioma of the optic nerve NCI2004_11_17:C5304 NCI:C5300 SNOMEDCT_US_2016_03_01:126948004 UMLS_CUI:C1263882 Cerebellopontine angle meningioma (disorder) meningioma of the Cerebellar Pontine Angle disease_ontology DOID:6337 cerebellopontine angle meningioma Cerebellopontine angle meningioma (disorder) SNOMEDCT_2005_07_31:126948004 meningioma of the Cerebellar Pontine Angle NCI2004_11_17:C5300 disease_ontology DOID:6338 testicular tumor of the thecoma fibroma group true NCI:C40305 disease_ontology DOID:6339 vulvar eccrine adenocarcinoma NCI:C6910 UMLS_CUI:C1513101 disease_ontology DOID:6344 melanocytic psammomatous MPNST NCI:C4748 SNOMEDCT_US_2016_03_01:253094006 SNOMEDCT_US_2016_03_01:253095007 SNOMEDCT_US_2016_03_01:404039004 UMLS_CUI:C0474847 Melanotic malignant nerve sheath tumor (disorder) Melanotic malignant peripheral nerve sheath tumor (morphologic abnormality) Melanotic malignant peripheral nerve sheath tumour melanocytic MPNST disease_ontology DOID:6345 malignant melanocytic neoplasm of the peripheral nerve sheath Melanotic malignant nerve sheath tumor (disorder) SNOMEDCT_2005_07_31:404039004 Melanotic malignant peripheral nerve sheath tumor (morphologic abnormality) SNOMEDCT_2005_07_31:253094006 Melanotic malignant peripheral nerve sheath tumour SNOMEDCT_2005_07_31:253095007 melanocytic MPNST NCI2004_11_17:C4748 A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per µL of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS. EFO:0000765 ICD10CM:B20 MESH:D000163 NCI:C2851 OMIM:609423 SNOMEDCT_US_2016_03_01:186705005 SNOMEDCT_US_2016_03_01:186715004 SNOMEDCT_US_2016_03_01:234644008 SNOMEDCT_US_2016_03_01:266201009 SNOMEDCT_US_2016_03_01:62479008 UMLS_CUI:C0001175 AIDS acquired Immune deficiency disease_ontology acquired immune deficiency syndrome DOID:635 acquired immunodeficiency syndrome A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per µL of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS. url:http://en.wikipedia.org/wiki/AIDS url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=aids acquired Immune deficiency NCI2004_11_17:C2851 acquired immune deficiency syndrome SNOMEDCT_2005_07_31:186705005 A chronic lymphocytic leukemia that is characterized by the presence of immature lymphocytes in the blood and bone marrow and/or in the lymph nodes. NCI:C27911 SNOMEDCT_US_2016_03_01:399607007 UMLS_CUI:C1302547 chronic lymphocytic leukemia/small lymphocytic lymphoma chronic lymphocytic leukemia/small lymphocytic lymphoma (morphologic abnormality) disease_ontology DOID:6354 CLL/SLL A chronic lymphocytic leukemia that is characterized by the presence of immature lymphocytes in the blood and bone marrow and/or in the lymph nodes. url:http://www.cancer.gov/dictionary?CdrID=641291 chronic lymphocytic leukemia/small lymphocytic lymphoma (morphologic abnormality) SNOMEDCT_2005_07_31:399607007 A demyelination disease that is characterized by severe damage to the myelin sheath of the pons' nerve cells and has_symptom acute paralysis, has_symptom dysphagia, and has_symptom dysarthria. ICD10CM:G37.2 MESH:D017590 NCI:C84623 SNOMEDCT_US_2016_03_01:6807001 UMLS_CUI:C0206083 osmotic demyelination syndrome disease_ontology DOID:636 central pontine myelinolysis A demyelination disease that is characterized by severe damage to the myelin sheath of the pons' nerve cells and has_symptom acute paralysis, has_symptom dysphagia, and has_symptom dysarthria. url:http://onlinelibrary.wiley.com/doi/10.1111/ene.12571/epdf url:https://en.wikipedia.org/wiki/Central_pontine_myelinolysis disease_ontology DOID:6361 renal cell carcinoma with constitutional chromosome 3 translocations true A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing. DOID:12437 EFO:0003821 ICD10CM:G43 ICD10CM:G43.9 ICD10CM:G43.909 ICD9CM:346 ICD9CM:346.9 MESH:D008881 NCI:C89715 OMIM:157300 OMIM:613656 SNOMEDCT_US_2016_03_01:155046006 SNOMEDCT_US_2016_03_01:155048007 SNOMEDCT_US_2016_03_01:193030005 SNOMEDCT_US_2016_03_01:193036004 SNOMEDCT_US_2016_03_01:193041007 SNOMEDCT_US_2016_03_01:267699004 SNOMEDCT_US_2016_03_01:37796009 UMLS_CUI:C0042331 UMLS_CUI:C0149931 migraine disorder migraine variant migraine with or without aura disease_ontology DOID:6364 Xref MGI. OMIM mapping confirmed by DO. [SN]. migraine A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing. url:http://en.wikipedia.org/wiki/Migraine url:http://www.mayoclinic.com/health/migraine-headache/DS00120 A skin melanoma that is characterized by slow growth of a small pigmented spot on the skin with a clearly defined edge, surrounded by normal-appearing skin and occurs on occurs on non hair-bairing surfaces including hands and feet, subungual sites, and fingers or toes. acral lentiginous melanoma, malignant (morphologic abnormality) malignant acral lentiginous melanoma disease_ontology DOID:6367 acral lentiginous melanoma A skin melanoma that is characterized by slow growth of a small pigmented spot on the skin with a clearly defined edge, surrounded by normal-appearing skin and occurs on occurs on non hair-bairing surfaces including hands and feet, subungual sites, and fingers or toes. url:http://en.wikipedia.org/wiki/Acral_lentiginous_melanoma url:http://en.wikipedia.org/wiki/Lentigo url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1352575/ acral lentiginous melanoma, malignant (morphologic abnormality) SNOMEDCT_2005_07_31:16974005 malignant acral lentiginous melanoma SNOMEDCT_2005_07_31:189755003 Metabolic encephalopathy Metabolic encephalopathy (disorder) disease_ontology DOID:637 metabolic brain disease true Metabolic encephalopathy ICD9CM_2006:348.31 Metabolic encephalopathy SNOMEDCT_2005_07_31:276258006 Metabolic encephalopathy (disorder) SNOMEDCT_2005_07_31:50122000 NCI:C5833 UMLS_CUI:C1333974 Osteosarcoma of Liver disease_ontology DOID:6370 hepatic osteogenic sarcoma Osteosarcoma of Liver NCI2004_11_17:C5833 ICD10CM:D73.1 ICD9CM:289.4 MESH:D006971 NCI:C34714 SNOMEDCT_US_2016_03_01:154839008 SNOMEDCT_US_2016_03_01:267570002 SNOMEDCT_US_2016_03_01:58381000 UMLS_CUI:C0020532 hypersplenia disease_ontology DOID:6376 hypersplenism hypersplenia MTHICD9_2006:289.4 NCI:C6890 SNOMEDCT_US_2016_03_01:128729004 UMLS_CUI:C1266112 Diffuse Melanosis Diffuse melanocytosis (morphologic abnormality) disease_ontology DOID:6379 diffuse meningeal melanocytosis Diffuse Melanosis NCI2004_11_17:C6890 Diffuse melanocytosis (morphologic abnormality) SNOMEDCT_2005_07_31:128729004 disease_ontology DOID:638 demyelinating disease of central nervous system true NCI:C5281 UMLS_CUI:C1332302 meningioma of the Anterior Foramen Magnum disease_ontology DOID:6381 anterior foramen magnum meningioma meningioma of the Anterior Foramen Magnum NCI2004_11_17:C5281 relapsed pediatric glioma of Brainstem disease_ontology DOID:6382 recurrent childhood glioma of brain stem true relapsed pediatric glioma of Brainstem NCI2004_11_17:C9190 NCI:C9042 UMLS_CUI:C0278600 pediatric glioma of the Brainstem disease_ontology DOID:6383 childhood brain stem glioma pediatric glioma of the Brainstem NCI2004_11_17:C9042 disease_ontology DOID:6384 recurrent childhood central nervous system tumor true disease_ontology DOID:6385 recurrent childhood brainstem astrocytoma true NCI:C6216 UMLS_CUI:C1332950 disease_ontology DOID:6386 childhood brainstem astrocytoma An encephalomyelitis characterized by inflammation located_in brain and located_in spinal cord that damages myelin. It usually occurs after viral infection, but also following vaccination, bacterial or parasitic infection. MESH:D004673 NCI:C34578 SNOMEDCT_US_2016_03_01:83942000 UMLS_CUI:C0014059 ADEM acute Disseminated Encephalomyelitis acute disseminated encephalitis acute disseminated encephalomyelitis (disorder) disease_ontology DOID:639 acute disseminated encephalomyelitis An encephalomyelitis characterized by inflammation located_in brain and located_in spinal cord that damages myelin. It usually occurs after viral infection, but also following vaccination, bacterial or parasitic infection. url:http://en.wikipedia.org/wiki/Acute_disseminated_encephalomyelitis url:http://www.ninds.nih.gov/disorders/acute_encephalomyelitis/acute_encephalomyelitis.htm ADEM ICD9CM:323.61 acute Disseminated Encephalomyelitis NCI2004_11_17:C34578 acute disseminated encephalitis CSP2005:0944-4849 acute disseminated encephalitis CSP2005:2042-4989 acute disseminated encephalomyelitis (disorder) SNOMEDCT_2005_07_31:83942000 disease_ontology DOID:64 epithelial tissue disease true MESH:D004679 NCI:C34580 SNOMEDCT_US_2016_03_01:154991009 SNOMEDCT_US_2016_03_01:192682002 SNOMEDCT_US_2016_03_01:192735003 SNOMEDCT_US_2016_03_01:192736002 SNOMEDCT_US_2016_03_01:230196000 SNOMEDCT_US_2016_03_01:267682000 SNOMEDCT_US_2016_03_01:267684004 SNOMEDCT_US_2016_03_01:286936006 SNOMEDCT_US_2016_03_01:62950007 UMLS_CUI:C0014070 Encephalitis &/or myelitis disease_ontology DOID:640 encephalomyelitis Encephalitis &/or myelitis SNOMEDCT_2005_07_31:267682000 NCI:C27253 SNOMEDCT_US_2016_03_01:128670007 UMLS_CUI:C1266045 Metanephric adenoma (morphologic abnormality) disease_ontology DOID:6404 metanephric adenoma Metanephric adenoma (morphologic abnormality) SNOMEDCT_2005_07_31:128670007 NCI:C7278 UMLS_CUI:C1335175 disease_ontology DOID:6405 ovarian papillary cystadenoma ICD10CM:Q20.1 ICD9CM:745.11 MESH:D004310 NCI:C98916 OMIM:217095 SNOMEDCT_US_2016_03_01:204298001 SNOMEDCT_US_2016_03_01:204302009 SNOMEDCT_US_2016_03_01:7484005 UMLS_CUI:C0013069 Dextrotransposition of aorta (disorder) Double outlet right ventricle Double outlet right ventricle (disorder) Double outlet right ventricle NOS (disorder) Double outlet right ventricle with subpulmonary ventricular septal defect Double outlet right ventricle, unspecified (disorder) Taussig-Bing syndrome or defect disease_ontology DOID:6406 OMIM mapping confirmed by DO. [SN]. double outlet right ventricle Dextrotransposition of aorta (disorder) SNOMEDCT_2005_07_31:204299009 Double outlet right ventricle ICD9CM_2006:745.11 Double outlet right ventricle (disorder) SNOMEDCT_2005_07_31:7484005 Double outlet right ventricle NOS (disorder) SNOMEDCT_2005_07_31:204302009 Double outlet right ventricle with subpulmonary ventricular septal defect SNOMEDCT_2005_07_31:204301002 Double outlet right ventricle, unspecified (disorder) SNOMEDCT_2005_07_31:204298001 Taussig-Bing syndrome or defect MTHICD9_2006:745.11 NCI:C7279 UMLS_CUI:C1335183 disease_ontology DOID:6407 ovarian surface papilloma NCI:C6256 UMLS_CUI:C1335178 serous Surface Papillary carcinoma of Ovary disease_ontology DOID:6408 ovary papillary carcinoma serous Surface Papillary carcinoma of Ovary NCI2004_11_17:C6256 disease_ontology DOID:641 CNS demyelinating autoimmune disease true ICD10CM:Q21.3 ICD9CM:745.2 MESH:D013771 NCI:C84505 OMIM:187500 SNOMEDCT_US_2016_03_01:156913009 SNOMEDCT_US_2016_03_01:204305006 SNOMEDCT_US_2016_03_01:204307003 SNOMEDCT_US_2016_03_01:268177006 SNOMEDCT_US_2016_03_01:86299006 UMLS_CUI:C0039685 Ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle disease_ontology DOID:6419 OMIM mapping confirmed by DO. [LS]. tetralogy of Fallot Ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle MTHICD9_2006:745.2 disease_ontology DOID:642 demyelinating encephalopathy true MESH:D011666 SNOMEDCT_US_2016_03_01:56786000 UMLS_CUI:C0034089 disease_ontology DOID:6420 pulmonary valve stenosis NCI:C27404 UMLS_CUI:C1332955 disease_ontology DOID:6423 childhood central nervous system mature teratoma pediatric teratoma of central nervous system disease_ontology DOID:6424 pediatric CNS teratoma true pediatric teratoma of central nervous system NCI2004_11_17:C6204 NCI:C6078 UMLS_CUI:C0920196 carcinoma of the eyelid disease_ontology DOID:6425 eyelid carcinoma carcinoma of the eyelid NCI2004_11_17:C6078 NCI:C40213 UMLS_CUI:C1516403 disease_ontology DOID:6428 cervical adenoid basal carcinoma A viral infectious disease that involves reactivation of JC polyomavirus in immune-compromised individuals which causes the loss of white matter (which is made up of myelin, a substance the surrounds and protects nerve fibers) in multiple areas of the brain. The symptoms include hemiparesis, aphasia, dysarthria, hemianopia, cognitive impairment and coma. ICD10CM:A81.2 ICD9CM:046.3 MESH:D007968 NCI:C26815 SNOMEDCT_US_2016_03_01:22255007 UMLS_CUI:C0023524 disease_ontology PML DOID:643 progressive multifocal leukoencephalopathy A viral infectious disease that involves reactivation of JC polyomavirus in immune-compromised individuals which causes the loss of white matter (which is made up of myelin, a substance the surrounds and protects nerve fibers) in multiple areas of the brain. The symptoms include hemiparesis, aphasia, dysarthria, hemianopia, cognitive impairment and coma. url:http://www.merck.com/mmpe/sec16/ch217/ch217f.html url:http://www.merriam-webster.com/medical/progressive%20multifocal%20leukoencephalopathy url:http://www.ninds.nih.gov/disorders/pml/pml.htm PML CSP2005:2042-2309 A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries. ICD10CM:I27.2 MESH:D006976 NCI:C3120 SNOMEDCT_US_2016_03_01:155328008 SNOMEDCT_US_2016_03_01:266293003 SNOMEDCT_US_2016_03_01:70995007 UMLS_CUI:C0020542 disease_ontology DOID:6432 pulmonary hypertension A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=19555858 url:https://en.wikipedia.org/wiki/Pulmonary_hypertension NCI:C4561 SNOMEDCT_US_2016_03_01:255021005 UMLS_CUI:C0346388 malignant melanoma of choroid (disorder) melanoma of the Choroid disease_ontology DOID:6438 malignant choroid melanoma malignant melanoma of choroid (disorder) SNOMEDCT_2005_07_31:255021005 melanoma of the Choroid NCI2004_11_17:C4561 Leukoencephalopathy (disorder) disease_ontology DOID:644 leukoencephalopathy true Leukoencephalopathy (disorder) SNOMEDCT_2005_07_31:22811006 NCI:C40060 UMLS_CUI:C1518711 disease_ontology DOID:6445 ovarian endometrioid malignant adenofibroma NCI:C4176 SNOMEDCT_US_2016_03_01:58069009 UMLS_CUI:C0334353 Ceruminous adenocarcinoma Ceruminous adenocarcinoma (morphologic abnormality) disease_ontology DOID:6446 ceruminous carcinoma Ceruminous adenocarcinoma NCI2004_11_17:C4176 Ceruminous adenocarcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:58069009 disease_ontology DOID:6447 ceruminous tumor true NCI:C40308 disease_ontology DOID:6448 vulvar apocrine adenocarcinoma NCI:C5465 UMLS_CUI:C1332879 Fibrosarcoma of the CNS disease_ontology DOID:6451 central nervous system fibrosarcoma Fibrosarcoma of the CNS NCI2004_11_17:C5465 An autosomal dominant disease characterized by multiple noncancerous, tumor-like growths (hamartomas) and an increased risk of certain forms of cancer, especially breast, thyroid and endometrium. It is caused by mutations in the PTEN, SDHB, SDHD and KLLN genes. DOID:3471 MESH:D006223 NCI:C3076 NCI:C8419 OMIM:158350 OMIM:612359 OMIM:615106 OMIM:615107 OMIM:615108 OMIM:615109 ORDO:201 SNOMEDCT_US_2016_03_01:58037000 SNOMEDCT_US_2016_03_01:67944007 UMLS_CUI:C0018553 UMLS_CUI:C0391826 Lhermitte-Duclos disease (disorder) dysplastic Gangliocytoma of Cerebellum disease_ontology multiple hamartoma syndrome DOID:6457 Xref MGI. OMIM mapping confirmed by DO. [SN]. Cowden disease An autosomal dominant disease characterized by multiple noncancerous, tumor-like growths (hamartomas) and an increased risk of certain forms of cancer, especially breast, thyroid and endometrium. It is caused by mutations in the PTEN, SDHB, SDHD and KLLN genes. url:http://en.wikipedia.org/wiki/Cowden_syndrome url:http://ghr.nlm.nih.gov/condition/cowden-syndrome url:http://rarediseases.info.nih.gov/gard/6202/cowden-syndrome/resources/1 Lhermitte-Duclos disease (disorder) SNOMEDCT_2005_07_31:67944007 dysplastic Gangliocytoma of Cerebellum NCI2004_11_17:C8419 NCI:C6905 SNOMEDCT_US_2016_03_01:128858006 UMLS_CUI:C1370507 Cerebellar liponeurocytoma Lipomatous Medulloblastoma disease_ontology DOID:6458 cerebellar liponeurocytoma Cerebellar liponeurocytoma SNOMEDCT_2005_07_31:128858006 Lipomatous Medulloblastoma NCI2004_11_17:C6905 NCI:C5551 UMLS_CUI:C1335684 Lipoma of rectum disease_ontology DOID:6459 lipoma of the rectum Lipoma of rectum NCI2004_11_17:C5551 An encephalitis that involves inflammation of the brain caused by viral infection. DOID:10248 DOID:10249 DOID:10839 MESH:D004671 NCI:C34576 SNOMEDCT_US_2016_03_01:186498004 SNOMEDCT_US_2016_03_01:186499007 SNOMEDCT_US_2016_03_01:192687008 SNOMEDCT_US_2016_03_01:20411005 SNOMEDCT_US_2016_03_01:285756005 SNOMEDCT_US_2016_03_01:68197003 UMLS_CUI:C0014055 epidemic encephalitis disease_ontology DOID:646 viral encephalitis An encephalitis that involves inflammation of the brain caused by viral infection. url:http://www.ncbi.nlm.nih.gov/sites/entrez/14978145 epidemic encephalitis CSP2005:2042-4896 NCI:C5678 UMLS_CUI:C1333114 Lipoma of large Intestine disease_ontology DOID:6460 large intestine lipoma Lipoma of large Intestine NCI2004_11_17:C5678 relapsed Skeletal Ewing's sarcoma disease_ontology DOID:6467 bone recurrent Ewing's sarcoma true relapsed Skeletal Ewing's sarcoma NCI2004_11_17:C6622 NCI:C8979 SNOMEDCT_US_2016_03_01:10705005 UMLS_CUI:C1377844 disease_ontology DOID:6468 mucinous cystadenofibroma NCI:C40040 UMLS_CUI:C1518723 disease_ontology DOID:6469 ovarian mucinous adenofibroma A Polyomaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Polyomavirus, which cause respiratory symptoms, cystitis or skin cancer. disease_ontology DOID:647 Polyomavirus infectious disease true A Polyomaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Polyomavirus, which cause respiratory symptoms, cystitis or skin cancer. url:http://en.wikipedia.org/wiki/Polyomavirus NCI:C6539 UMLS_CUI:C1333008 pediatric testicular Teratocarcinoma disease_ontology DOID:6474 childhood teratocarcinoma of the testis pediatric testicular Teratocarcinoma NCI2004_11_17:C6539 NCI:C39827 UMLS_CUI:C1512737 disease_ontology DOID:6476 clear cell variant infiltrating bladder urothelial carcinoma NCI:C27885 UMLS_CUI:C1334281 Invasive bladder Urothelial carcinoma disease_ontology DOID:6477 invasive bladder transitional cell carcinoma Invasive bladder Urothelial carcinoma NCI2004_11_17:C27885 ICD10CM:A81.81 ICD9CM:046.0 MESH:D007729 SNOMEDCT_US_2016_03_01:192684001 SNOMEDCT_US_2016_03_01:86188000 UMLS_CUI:C0022802 kuru encephalopathy disease_ontology DOID:648 kuru NCI:C6163 UMLS_CUI:C1332563 urinary bladder Signet Ring adenocarcinoma disease_ontology signet ring cell adenocarcinoma of bladder DOID:6481 bladder signet ring cell adenocarcinoma urinary bladder Signet Ring adenocarcinoma NCI2004_11_17:C6163 NCI:C5649 UMLS_CUI:C1332137 acinar adenocarcinoma of the lung disease_ontology DOID:6482 lung acinar adenocarcinoma acinar adenocarcinoma of the lung NCI2004_11_17:C5649 NCI:C39956 UMLS_CUI:C1514910 disease_ontology DOID:6483 rete testis adenoma NCI:C6635 UMLS_CUI:C1334668 melanocytic Schwannoma of mediastinum disease_ontology DOID:6484 mediastinal melanocytic neurilemmoma melanocytic Schwannoma of mediastinum NCI2004_11_17:C6635 disease_ontology DOID:6488 metastatic tumor to the iris true NCI:C8970 SNOMEDCT_US_2016_03_01:128772005 SNOMEDCT_US_2016_03_01:91242000 UMLS_CUI:C1377843 Periosteal Osteosarcoma Periosteal osteogenic sarcoma Periosteal osteosarcoma (morphologic abnormality) disease_ontology DOID:6489 periosteal osteogenic sarcoma Periosteal Osteosarcoma MTH:NOCODE Periosteal osteogenic sarcoma SNOMEDCT_2005_07_31:91242000 Periosteal osteosarcoma (morphologic abnormality) SNOMEDCT_2005_07_31:128772005 A brain disease that is characterized by brain damage resulting from the abnormal folding, clumping and accumulation of cellular proteins in the brain induced by prion proteins. ICD10CM:A81.9 KEGG:05020 MESH:D017096 NCI:C27585 SNOMEDCT_US_2016_03_01:193172009 SNOMEDCT_US_2016_03_01:20484008 SNOMEDCT_US_2016_03_01:230284004 UMLS_CUI:C0162534 Prion disease pathway Prion protein disease Spongiform Encephalopathy prion induced disorder transmissible spongiform encephalopathy disease_ontology DOID:649 prion disease A brain disease that is characterized by brain damage resulting from the abnormal folding, clumping and accumulation of cellular proteins in the brain induced by prion proteins. url:http://en.wikipedia.org/wiki/Prion url:http://www.cdc.gov/ncidod/dvrd/prions/ url:http://www.hopkinsmedicine.org/healthlibrary/conditions/nervous_system_disorders/prion_diseases_134,56/ Prion disease pathway NCI2004_11_17:C38853 Prion protein disease SNOMEDCT_2005_07_31:193172009 Spongiform Encephalopathy NCI2004_11_17:C27585 prion induced disorder CSP2005:2042-5040 NCI:C5210 UMLS_CUI:C1332619 Capillary Angioma of breast disease_ontology DOID:6491 breast capillary hemangioma Capillary Angioma of breast NCI2004_11_17:C5210 NCI:C5211 UMLS_CUI:C1332627 breast Histiocytoid hemangioma disease_ontology DOID:6492 breast epithelioid hemangioma breast Histiocytoid hemangioma NCI2004_11_17:C5211 NCI:C27377 UMLS_CUI:C1332984 disease_ontology DOID:6494 pediatric myxoid chondrosarcoma An adult sarcoma of soft tissue and myxoid chondrosarcoma that is composed_of multiple lobules of chondroblast-like cells, arranged in cords and strands, embedded in a myxoid stroma, and separated by fibrous septa. NCI:C27378 UMLS_CUI:C1332209 disease_ontology DOID:6495 adult myxoid chondrosarcoma An adult sarcoma of soft tissue and myxoid chondrosarcoma that is composed_of multiple lobules of chondroblast-like cells, arranged in cords and strands, embedded in a myxoid stroma, and separated by fibrous septa. url:http://www.pathconsultddx.com/pathCon/diagnosis?pii=S1559-8675%2806%2970409-0 An extraosseous chondrosarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage and is characterized by a marked abundance of extracellular mucoid (myxoid) matrix. MESH:C563195 NCI:C27502 OMIM:612237 SNOMEDCT_US_2016_03_01:404079008 UMLS_CUI:C1275278 Myxoid extraosseous chondrosarcoma extraskeletal myxoid chondrosarcoma (disorder) disease_ontology DOID:6496 OMIM mapping confirmed by DO. [SN]. extraskeletal myxoid chondrosarcoma An extraosseous chondrosarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage and is characterized by a marked abundance of extracellular mucoid (myxoid) matrix. url:http://en.wikipedia.org/wiki/Chondrosarcoma url:http://en.wikipedia.org/wiki/Myxoid_chondrosarcoma url:http://en.wikipedia.org/wiki/Myxoid_tumor url:http://www.ncbi.nlm.nih.gov/pubmed/10564384 Myxoid extraosseous chondrosarcoma NCI2004_11_17:C27502 extraskeletal myxoid chondrosarcoma (disorder) SNOMEDCT_2005_07_31:404079008 ICD10CM:L82 ICD10CM:L82.1 ICD9CM:702.1 MESH:D017492 NCI:C9006 OMIM:182000 SNOMEDCT_US_2016_03_01:156400006 SNOMEDCT_US_2016_03_01:201096007 SNOMEDCT_US_2016_03_01:201107006 SNOMEDCT_US_2016_03_01:25499005 SNOMEDCT_US_2016_03_01:267860005 SNOMEDCT_US_2016_03_01:394726009 SNOMEDCT_US_2016_03_01:394727000 SNOMEDCT_US_2016_03_01:398838000 SNOMEDCT_US_2016_03_01:50563003 UMLS_CUI:C0022603 disease_ontology DOID:6498 OMIM mapping confirmed by DO. [SN]. seborrheic keratosis A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage. MESH:D003240 NCI:C26729 SNOMEDCT_US_2016_03_01:105969002 SNOMEDCT_US_2016_03_01:201432001 SNOMEDCT_US_2016_03_01:268048008 SNOMEDCT_US_2016_03_01:268126004 UMLS_CUI:C0009782 connective tissue disorder disorder of connective tissue disease_ontology DOID:65 connective tissue disease A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage. url:http://www.niams.nih.gov/Health_Info/Scleroderma/default.asp connective tissue disorder CSP2005:0729-7208 disorder of connective tissue SNOMEDCT_2005_07_31:105969002 NCI:C5146 UMLS_CUI:C1332900 Hemangioblastoma of Cerebellum disease_ontology DOID:6500 cerebellar angioblastoma Hemangioblastoma of Cerebellum NCI2004_11_17:C5146 NCI:C5147 UMLS_CUI:C1332611 Hemangioblastoma of Brainstem disease_ontology DOID:6501 brain stem angioblastoma Hemangioblastoma of Brainstem NCI2004_11_17:C5147 NCI:C40280 UMLS_CUI:C1511107 disease_ontology DOID:6505 vaginal spindle cell epithelioma Seminoma with high mitotic index testicular Seminoma with High Mitotic Index disease_ontology DOID:6506 anaplastic seminoma true Seminoma with high mitotic index SNOMEDCT_2005_07_31:72907003 testicular Seminoma with High Mitotic Index NCI2004_11_17:C39920 NCI:C6686 UMLS_CUI:C1335100 Occult squamous cell carcinoma of the lung disease_ontology occult squamous cell carcinoma of lung DOID:6510 lung occult squamous cell carcinoma Occult squamous cell carcinoma of the lung NCI2004_11_17:C6686 NCI:C39988 UMLS_CUI:C1518747 disease_ontology DOID:6511 glandular pattern ovarian yolk sac tumor NCI:C39989 UMLS_CUI:C1518748 disease_ontology DOID:6512 hepatoid pattern ovarian yolk sac tumor NCI:C39987 UMLS_CUI:C1518749 disease_ontology DOID:6514 polyvesicular vitelline pattern ovarian yolk sac tumor NCI:C5289 UMLS_CUI:C1333073 meningioma of the Clivus disease_ontology DOID:6517 clivus meningioma meningioma of the Clivus NCI2004_11_17:C5289 NCI:C40300 UMLS_CUI:C1511049 Bartholin gland adenomyoma disease_ontology DOID:6518 Bartholin's gland adenomyoma Congenital malformation and deformation of the musculoskeletal system (disorder) Congenital malformations and deformations of the musculoskeletal system (disorder) Congenital musculoskeletal anomalies NOS Congenital musculoskeletal anomalies NOS (disorder) Congenital musculoskeletal deformities Congenital musculoskeletal deformity NOS (disorder) Skeletal anomaly-congen congenital musculoskeletal anomaly disease_ontology DOID:652 congenital musculoskeletal abnormality true Congenital malformation and deformation of the musculoskeletal system (disorder) SNOMEDCT_2005_07_31:73573004 Congenital malformations and deformations of the musculoskeletal system (disorder) SNOMEDCT_2005_07_31:205947008 Congenital musculoskeletal anomalies NOS SNOMEDCT_2005_07_31:156998001 Congenital musculoskeletal anomalies NOS SNOMEDCT_2005_07_31:205535007 Congenital musculoskeletal anomalies NOS (disorder) SNOMEDCT_2005_07_31:268281003 Congenital musculoskeletal deformities SNOMEDCT_2005_07_31:205033007 Congenital musculoskeletal deformity NOS (disorder) SNOMEDCT_2005_07_31:205117007 Skeletal anomaly-congen SNOMEDCT_2005_07_31:268336000 NCI:C35781 UMLS_CUI:C1334782 disease_ontology DOID:6522 mixed cell uveal melanoma NCI:C35783 UMLS_CUI:C1333051 disease_ontology DOID:6523 ciliary body mixed cell melanoma NCI:C4558 SNOMEDCT_US_2016_03_01:255015006 UMLS_CUI:C0346379 malignant melanoma of ciliary body (disorder) melanoma of the Ciliary body disease_ontology DOID:6524 malignant ciliary body melanoma malignant melanoma of ciliary body (disorder) SNOMEDCT_2005_07_31:255015006 melanoma of the Ciliary body NCI2004_11_17:C4558 NCI:C35782 UMLS_CUI:C1333025 disease_ontology DOID:6525 choroid mixed cell melanoma An inherited metabolic disorder involving dysfunction of purine and pyrimidine metabolism. ICD10CM:E79.8 ICD9CM:277.2 SNOMEDCT_US_2016_03_01:190917005 SNOMEDCT_US_2016_03_01:190922005 SNOMEDCT_US_2016_03_01:191109006 SNOMEDCT_US_2016_03_01:267450006 UMLS_CUI:C0029595 inborn errors of purine-pyrimidine metabolism disease_ontology DOID:653 purine-pyrimidine metabolic disorder An inherited metabolic disorder involving dysfunction of purine and pyrimidine metabolism. url:http://en.wikipedia.org/wiki/Inborn_errors_of_purine-pyrimidine_metabolism NCI:C6888 SNOMEDCT_US_2016_03_01:128713007 UMLS_CUI:C1266095 Polygonal cell Thymoma Thymoma, cortical disease_ontology DOID:6530 cortical thymoma Polygonal cell Thymoma NCI2004_11_17:C6888 Thymoma, cortical SNOMEDCT_2005_07_31:128713007 disease_ontology DOID:6532 monomorphic B-cell PTLD true disease_ontology DOID:6533 monomorphic PTLD true disease_ontology DOID:6535 plasma cell PTLD true EFO:0000200 MESH:D010265 SNOMEDCT_US_2016_03_01:277576009 SNOMEDCT_US_2016_03_01:71390001 UMLS_CUI:C1136084 Plasma cell dyscrasia (disorder) Plasma cell tumour Plasmacytic tumor disease_ontology DOID:6536 plasma cell neoplasm Plasma cell dyscrasia (disorder) SNOMEDCT_2005_07_31:71390001 Plasma cell tumour SNOMEDCT_2005_07_31:274907000 Plasmacytic tumor NCI2004_11_17:C4665 MESH:D044343 SNOMEDCT_US_2016_03_01:302872003 UMLS_CUI:C1257763 disease_ontology DOID:654 Updated outdated UMLS CUI. overnutrition disease_ontology DOID:6540 transient organic mental disorder true A sebaceous gland disease characterized by areas of blackheads, whiteheads, pimples, greasy skin, and possibly scarring. DOID:9906 ICD10CM:L70 ICD10CM:L70.2 ICD10CM:L70.9 ICD9CM:706.0 MTH:217 NCI:C27195 OMIM:604324 SNOMEDCT_US_2016_03_01:11381005 SNOMEDCT_US_2016_03_01:201210008 SNOMEDCT_US_2016_03_01:201211007 SNOMEDCT_US_2016_03_01:201212000 SNOMEDCT_US_2016_03_01:201229002 SNOMEDCT_US_2016_03_01:201408008 SNOMEDCT_US_2016_03_01:23894009 SNOMEDCT_US_2016_03_01:267815009 UMLS_CUI:C0152249 UMLS_CUI:C0702166 Acne varioliformis acne vulgaris frontalis acne disease_ontology DOID:6543 acne A sebaceous gland disease characterized by areas of blackheads, whiteheads, pimples, greasy skin, and possibly scarring. url:http://en.wikipedia.org/wiki/Sebaceous_gland#Clinical_significance Acne varioliformis ICD9CM_2006:706.0 Atypical meningioma Atypical meningioma (morphologic abnormality) disease_ontology DOID:6544 atypical meningioma true Atypical meningioma NCI2004_11_17:C4723 Atypical meningioma (morphologic abnormality) SNOMEDCT_2005_07_31:128914005 disease_ontology DOID:6545 adult atypical meningioma true secondary Heart Lymphoma disease_ontology DOID:6546 secondary cardiac lymphoma true secondary Heart Lymphoma NCI2004_11_17:C5369 NCI:C5368 UMLS_CUI:C1332850 Lymphoma of Heart disease_ontology DOID:6547 heart lymphoma Lymphoma of Heart NCI2004_11_17:C5368 MESH:D008579 NCI:C4332 SNOMEDCT_US_2016_03_01:73918009 UMLS_CUI:C0334608 Angiomatous meningioma (morphologic abnormality) disease_ontology DOID:6548 angiomatous meningioma Angiomatous meningioma (morphologic abnormality) SNOMEDCT_2005_07_31:73918009 disease_ontology DOID:6549 schistosoma hematobium-related bladder verrucous squamous cell carcinoma true A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality. MESH:D008661 NCI:C34816 SNOMEDCT_US_2016_03_01:363205007 SNOMEDCT_US_2016_03_01:86095007 UMLS_CUI:C0025521 Inborn Errors of Metabolism Metabolic hereditary disorder inborn metabolism disorder disease_ontology DOID:655 inherited metabolic disorder A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality. url:http://en.wikipedia.org/wiki/Inborn_errors_of_metabolism url:http://www.ncbi.nlm.nih.gov/mesh/68008659 Inborn Errors of Metabolism NCI2004_11_17:C34816 Metabolic hereditary disorder SNOMEDCT_2005_07_31:363205007 inborn metabolism disorder CSP2005:1849-0057 NCI:C6764 UMLS_CUI:C1333788 small cell carcinoma of stomach disease_ontology DOID:6552 gastric small cell carcinoma small cell carcinoma of stomach NCI2004_11_17:C6764 NCI:C5282 UMLS_CUI:C1335449 meningioma of the Posterior Foramen Magnum disease_ontology DOID:6553 posterior foramen magnum meningioma meningioma of the Posterior Foramen Magnum NCI2004_11_17:C5282 NCI:C40079 ovarian clear cell adenocarcinofibroma disease_ontology DOID:6554 ovarian clear cell malignant adenofibroma hamartoma of the Spinal Cord disease_ontology DOID:6556 hamartoma of Spinal Cord true hamartoma of the Spinal Cord NCI2004_11_17:C6815 NCI:C6836 UMLS_CUI:C1333476 Schneiderian papilloma of the ethmoid sinus disease_ontology DOID:6559 ethmoid sinus Schneiderian papilloma Schneiderian papilloma of the ethmoid sinus NCI2004_11_17:C6836 An endocrine organ benign neoplasm that is a benign tumor of the glandular type (adenoma) in the adrenal gland. adenoma of the Adrenal gland disease_ontology DOID:656 adrenal adenoma An endocrine organ benign neoplasm that is a benign tumor of the glandular type (adenoma) in the adrenal gland. url:http://en.wikipedia.org/wiki/Adrenal_adenoma adenoma of the Adrenal gland NCI2004_11_17:C3906 NCI:C6843 UMLS_CUI:C1333474 Inverted papilloma of the ethmoid sinus disease_ontology DOID:6562 ethmoid sinus inverted papilloma Inverted papilloma of the ethmoid sinus NCI2004_11_17:C6843 disease_ontology DOID:6563 metastatic testicular cancer true NCI:C5418 UMLS_CUI:C1335435 Schwannoma of Pleura disease_ontology DOID:6564 neurilemmoma of the pleura Schwannoma of Pleura NCI2004_11_17:C5418 DOID:6746 NCI:C9089 NCI:C9090 UMLS_CUI:C0278867 UMLS_CUI:C0278868 medium/large size posterior uveal melanoma small size posterior uveal melanoma disease_ontology DOID:6566 posterior uveal melanoma NCI:C40175 UMLS_CUI:C1519861 disease_ontology DOID:6567 uterine corpus myxoid leiomyosarcoma NCI:C40290 UMLS_CUI:C1519982 disease_ontology DOID:6569 micropapillomatosis labialis A cell type benign neoplasm that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures. DOID:2655 MESH:D000236 NCI:C2855 NCI:C4196 SNOMEDCT_US_2016_03_01:189578007 SNOMEDCT_US_2016_03_01:189579004 SNOMEDCT_US_2016_03_01:32048006 SNOMEDCT_US_2016_03_01:443416007 SNOMEDCT_US_2016_03_01:79041005 UMLS_CUI:C0001430 UMLS_CUI:C0334389 acinar cell adenoma acinar cell adenoma (morphologic abnormality) acinic cell adenoma adenomas disease_ontology adenoma DOID:657 adenoma A cell type benign neoplasm that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures. url:http://coloncancer.about.com/od/glossaries/g/Adenoma.htm url:http://en.wikipedia.org/wiki/Adenoma acinar cell adenoma (morphologic abnormality) SNOMEDCT_2005_07_31:79041005 acinic cell adenoma NCI2004_11_17:C4196 adenomas SNOMEDCT_2005_07_31:189578007 adenoma CSP2005:2000-1015 disease_ontology DOID:6571 non-invasive bladder urothelial carcinoma relapsed tumor of adult brain disease_ontology DOID:6573 recurrent adult brain tumor true relapsed tumor of adult brain NCI2004_11_17:C7884 Papillary mucinous cystadenoma, borderline malignancy (morphologic abnormality) Papillary mucinous neoplasm of Low malignant Potential disease_ontology DOID:6574 Borderline malignancy papillary mucinous cystadenoma true Papillary mucinous cystadenoma, borderline malignancy (morphologic abnormality) SNOMEDCT_2005_07_31:128853002 Papillary mucinous neoplasm of Low malignant Potential NCI2004_11_17:C4186 NCI:C7534 UMLS_CUI:C1333014 pediatric visual pathway astrocytoma disease_ontology DOID:6575 childhood optic tract astrocytoma pediatric visual pathway astrocytoma NCI2004_11_17:C7534 MESH:D020339 NCI:C7535 UMLS_CUI:C0278653 glioma of the pediatric visual pathway disease_ontology DOID:6576 childhood optic nerve glioma glioma of the pediatric visual pathway NCI2004_11_17:C7535 disease_ontology DOID:6577 ovarian dermoid cyst with sebaceous adenoma true disease_ontology DOID:6578 ovarian dermoid cyst with secondary sebaceous tumor true A bone cancer and malignant neoplasm of chest wall that is located_in the chest wall. NCI:C6724 UMLS_CUI:C1334572 malignant bone tumor of the Chest Wall disease_ontology malignant bone neoplasm of chest wall DOID:6579 chest wall bone cancer A bone cancer and malignant neoplasm of chest wall that is located_in the chest wall. url:http://www.ncbi.nlm.nih.gov/pubmed/10451260 malignant bone tumor of the Chest Wall NCI2004_11_17:C6724 NCI:C5141 UMLS_CUI:C1332316 breast Apocrine carcinoma disease_ontology apocrine carcinoma of breast DOID:6581 breast apocrine carcinoma breast Apocrine carcinoma NCI2004_11_17:C5141 NCI:C40366 UMLS_CUI:C1518574 disease_ontology DOID:6585 oncocytic breast carcinoma NCI:C9135 UMLS_CUI:C1328544 Invasive tubular carcinoma of breast tubular carcinoma of breast disease_ontology DOID:6587 invasive tubular breast carcinoma Invasive tubular carcinoma of breast NCI2004_11_17:C9135 ICD10CM:M46 ICD9CM:720.8 ICD9CM:720.89 SNOMEDCT_US_2016_03_01:202651004 SNOMEDCT_US_2016_03_01:202653001 UMLS_CUI:C0029644 disease_ontology DOID:6590 spondylitis NCI:C39835 UMLS_CUI:C1511188 disease_ontology DOID:6594 bladder colonic type adenocarcinoma NCI:C5473 UMLS_CUI:C1333791 tubular adenocarcinoma of stomach disease_ontology DOID:6595 gastric tubular adenocarcinoma tubular adenocarcinoma of stomach NCI2004_11_17:C5473 disease_ontology DOID:66 muscle tissue disease DOID:3949 ICD10CM:C74.0 MESH:D000306 NCI:C2858 NCI:C9327 SNOMEDCT_US_2016_03_01:127022002 SNOMEDCT_US_2016_03_01:18365006 SNOMEDCT_US_2016_03_01:189645007 SNOMEDCT_US_2016_03_01:189648009 SNOMEDCT_US_2016_03_01:2227007 SNOMEDCT_US_2016_03_01:363479004 SNOMEDCT_US_2016_03_01:371964008 SNOMEDCT_US_2016_03_01:93664009 UMLS_CUI:C0001618 UMLS_CUI:C0346402 Adrenal cortical tumors NOS (disorder) malignant Adrenocortical tumor malignant neoplasm of adrenal cortex malignant tumour of adrenal cortex neoplasm of adrenal cortex (disorder) disease_ontology DOID:660 adrenal cortex cancer Adrenal cortical tumors NOS (disorder) SNOMEDCT_2005_07_31:189648009 malignant Adrenocortical tumor NCI2004_11_17:C9327 malignant tumour of adrenal cortex SNOMEDCT_2005_07_31:93664009 neoplasm of adrenal cortex (disorder) SNOMEDCT_2005_07_31:127022002 relapsed malignant Mesothelioma of Peritoneum disease_ontology DOID:6602 recurrent malignant peritoneal mesothelioma true relapsed malignant Mesothelioma of Peritoneum NCI2004_11_17:C8705 ICD10CM:M48.3 ICD9CM:721.7 SNOMEDCT_US_2016_03_01:111232005 SNOMEDCT_US_2016_03_01:156628006 SNOMEDCT_US_2016_03_01:202682000 SNOMEDCT_US_2016_03_01:240218006 SNOMEDCT_US_2016_03_01:268075001 SNOMEDCT_US_2016_03_01:65753008 UMLS_CUI:C0152088 Kummell disease Kummell's spondylitis Traumatic spondylopathy disease_ontology DOID:6603 Kummell's disease Kummell's spondylitis SNOMEDCT_2005_07_31:65753008 Traumatic spondylopathy ICD9CM_2006:721.7 DOID:12870 DOID:12871 DOID:8595 Dorsal spondylosis without myelopathy Spondylogenic compression of cervical spinal cord Thoracic spondylosis without myelopathy Thoracic spondylosis without myelopathy (disorder) cervical spondylosis with myelopathy cervical spondylosis with myelopathy (disorder) cervical spondylosis without myelopathy cervical spondylosis without myelopathy (disorder) disease_ontology DOID:6604 spondylosis and allied disorder true Spondylogenic compression of cervical spinal cord MTHICD9_2006:721.1 Thoracic spondylosis without myelopathy ICD9CM_2006:721.2 SNOMEDCT_2005_07_31:123797007 SNOMEDCT_2005_07_31:202665002 SNOMEDCT_2005_07_31:202669008 SNOMEDCT_2005_07_31:39386008 Thoracic spondylosis without myelopathy (disorder) SNOMEDCT_2005_07_31:267971005 cervical spondylosis with myelopathy (disorder) SNOMEDCT_2005_07_31:65260001 cervical spondylosis without myelopathy (disorder) SNOMEDCT_2005_07_31:267970006 NCI:C27888 UMLS_CUI:C1333062 disease_ontology DOID:6605 classic variant of chromophobe renal cell carcinoma NCI:C27889 UMLS_CUI:C1333405 disease_ontology DOID:6606 eosinophilic variant of chromophobe renal cell carcinoma Hibernoma of nervous system disease_ontology DOID:6607 nervous system hibernoma Hibernoma of nervous system NCI2004_11_17:C6997 NCI:C5661 UMLS_CUI:C1333386 disease_ontology DOID:6608 endobronchial leiomyoma Basaloid squamous cell carcinoma of head and neck disease_ontology DOID:6609 basaloid squamous cell carcinoma of the head and neck true Basaloid squamous cell carcinoma of head and neck NCI2004_11_17:C37290 DOID:487 NCI:C5396 NCI:C6477 UMLS_CUI:C1332575 UMLS_CUI:C1332578 bone hemangioma hemangioma of bone osseous epithelioid hemangioma osseous hemangioma disease_ontology DOID:6610 bone epithelioid hemangioma osseous epithelioid hemangioma NCI2004_11_17:C5396 osseous hemangioma NCI2004_11_17:C6477 DOID:611 ICD10CM:D84.8 MESH:D018370 NCI:C27874 OMIM:266265 ORDO:2968 SNOMEDCT_US_2016_03_01:77358003 UMLS_CUI:C0242597 Congenital leukocyte adherence deficiency (disorder) disease_ontology DOID:6612 OMIM mapping confirmed by DO. [SN]. leukocyte adhesion deficiency Congenital leukocyte adherence deficiency (disorder) SNOMEDCT_2005_07_31:77358003 NCI:C40259 UMLS_CUI:C1519936 disease_ontology DOID:6613 vaginal villous adenoma disease_ontology adenocarcinoma of unknown primary DOID:6618 unknown primary adenocarcinoma true MESH:D053306 NCI:C3990 NCI:C84783 SNOMEDCT_US_2016_03_01:82286005 UMLS_CUI:C0272236 hyperimmunoglobulin M syndrome hyperimmunoglobulin M syndrome (disorder) disease_ontology DOID:6620 X-linked hyper IgM syndrome hyperimmunoglobulin M syndrome NCI2004_11_17:C3990 hyperimmunoglobulin M syndrome (disorder) SNOMEDCT_2005_07_31:82286005 NCI:C5433 UMLS_CUI:C0877388 hemangioma of Cerebrum disease_ontology DOID:6621 cerebral angioma hemangioma of Cerebrum NCI2004_11_17:C5433 NCI:C40206 UMLS_CUI:C1516423 disease_ontology DOID:6627 cervical adenoma malignum malignant tumor of Nipple disease_ontology DOID:6628 malignant neoplasm of nipple true malignant tumor of Nipple NCI2004_11_17:C5213 A breast carcinoma that is located_in the nipple. NCI:C28432 UMLS_CUI:C1334966 disease_ontology DOID:6629 nipple carcinoma A breast carcinoma that is located_in the nipple. url:http://www.cancer.gov/dictionary?CdrID=45963 NCI:C6387 UMLS_CUI:C1335936 hemangioma of scrotum disease_ontology DOID:663 scrotal angioma hemangioma of scrotum NCI2004_11_17:C6387 disease_ontology DOID:6630 ovarian dermoid cyst with secondary sarcoma true disease_ontology DOID:6631 ovarian dermoid cyst with leiomyosarcoma true disease_ontology DOID:6632 ovarian dermoid cyst with angiosarcoma true NCI:C5793 UMLS_CUI:C1370505 Choriocarcinoma of the adult central nervous system disease_ontology DOID:6634 adult central nervous system choriocarcinoma Choriocarcinoma of the adult central nervous system NCI2004_11_17:C5793 NCI:C6206 UMLS_CUI:C1377604 Choriocarcinoma of the pediatric central nervous system disease_ontology DOID:6639 pediatric CNS choriocarcinoma Choriocarcinoma of the pediatric central nervous system NCI2004_11_17:C6206 NCI:C7752 SNOMEDCT_US_2016_03_01:238747004 SNOMEDCT_US_2016_03_01:254789007 SNOMEDCT_US_2016_03_01:6331000 UMLS_CUI:C0263639 Angiokeratoma of Fordyce (disorder) Fordyce angiokeratoma Fordyce's spot Fordyce-type Angiokeratoma of scrotum disease_ontology DOID:664 angiokeratoma of Fordyce Angiokeratoma of Fordyce (disorder) SNOMEDCT_2005_07_31:6331000 Fordyce angiokeratoma SNOMEDCT_2005_07_31:254789007 Fordyce-type Angiokeratoma of scrotum NCI2004_11_17:C7752 NCI:C9503 SNOMEDCT_US_2016_03_01:708518001 UMLS_CUI:C1334303 Juvenile papillomatosis of the breast disease_ontology DOID:6641 breast juvenile papillomatosis Juvenile papillomatosis of the breast NCI2004_11_17:C9503 ICD10CM:M48.2 ICD10CM:M48.20 ICD9CM:721.5 SNOMEDCT_US_2016_03_01:202681007 SNOMEDCT_US_2016_03_01:82304009 UMLS_CUI:C0158248 Baastrup syndrome Kissing spine disease_ontology DOID:6643 Baastrup's syndrome Kissing spine ICD9CM_2006:721.5 NCI:C8292 UMLS_CUI:C0281332 disease_ontology DOID:6648 adult pineoblastoma A calcinosis that is the calcification or a bony hardening of ligaments in areas where they attach to your spine. ICD10CM:M48.1 ICD9CM:721.6 MESH:D004057 NCI:C84671 OMIM:106400 SNOMEDCT_US_2016_03_01:31487001 SNOMEDCT_US_2016_03_01:55815007 UMLS_CUI:C0020498 Ankylosing vertebral hyperostosis DISH Disseminated idiopathic skeletal hyperostosis disease_ontology Forestier disease DOID:6652 OMIM mapping confirmed by DO. [SN]. diffuse idiopathic skeletal hyperostosis A calcinosis that is the calcification or a bony hardening of ligaments in areas where they attach to your spine. url:http://www.mayoclinic.com/health/diffuse-idiopathic-skeletal-hyperostosis/DS00740 Ankylosing vertebral hyperostosis ICD9CM_2006:721.6 Disseminated idiopathic skeletal hyperostosis SNOMEDCT_2005_07_31:31487001 NCI:C27405 UMLS_CUI:C1332954 disease_ontology DOID:6654 childhood central nervous system immature teratoma NCI:C40356 UMLS_CUI:C1511316 disease_ontology DOID:6657 breast large cell neuroendocrine carcinoma DOID:5721 NCI:C5672 NCI:C6875 SNOMEDCT_US_2016_03_01:128628002 UMLS_CUI:C1265996 UMLS_CUI:C1334363 disease_ontology DOID:6658 pulmonary large cell neuroendocrine carcinoma NCI:C40214 UMLS_CUI:C1516417 disease_ontology DOID:6659 cervical large cell neuroendocrine carcinoma Tubulopapillary adenocarcinoma adenocarcinoma in Tubulovillous adenoma adenocarcinoma in tubulovillous adenoma disease_ontology DOID:6663 papillotubular adenocarcinoma true Tubulopapillary adenocarcinoma SNOMEDCT_2005_07_31:5658009 adenocarcinoma in Tubulovillous adenoma NCI2004_11_17:C4145 adenocarcinoma in tubulovillous adenoma SNOMEDCT_2005_07_31:189583004 regressing naevus disease_ontology DOID:6667 regressing nevus true regressing naevus SNOMEDCT_2005_07_31:307602007 regressing naevus SNOMEDCT_2005_07_31:78325005 MENOPAUSE SYNDROME Menopausal syndrome (disorder) disease_ontology DOID:6675 menopausal syndrome true MENOPAUSE SYNDROME MTH:479 Menopausal syndrome (disorder) SNOMEDCT_2005_07_31:123756000 A hypothalamic disease that is characterized by endocrine dysfunction of the hypothalamic gland resulting in delayed puberty, small testes, and obesity. ICD10CM:E23.6 MESH:D007027 NCI:C34625 SNOMEDCT_US_2016_03_01:62999006 UMLS_CUI:C0016724 Babinski-Froelich syndrome Froehlich syndrome Froehlich's syndrome Froelich's syndrome adiposogenital syndrome DOID:6676 Froelich syndrome A hypothalamic disease that is characterized by endocrine dysfunction of the hypothalamic gland resulting in delayed puberty, small testes, and obesity. url:https://en.wikipedia.org/wiki/Adiposogenital_dystrophy A syndrome that occurs in human immunodeficiency virus (HIV) positive patients, which is accompanied by decreased kidney function. The spectrum of kidney involvement includes acute or chronic kidney disease, primarily tubular proteinuria and dense lymphocytic tubulointerstitial infiltrates predominantly composed of CD8 T cells. NCI:C35699 SNOMEDCT:449784008 SNOMEDCT_US_2016_03_01:449784008 UMLS_CUI:C1333292 disease_ontology DOID:6677 No OMIM mapping, confirmed by DO. [LS]. diffuse infiltrative lymphocytosis syndrome A syndrome that occurs in human immunodeficiency virus (HIV) positive patients, which is accompanied by decreased kidney function. The spectrum of kidney involvement includes acute or chronic kidney disease, primarily tubular proteinuria and dense lymphocytic tubulointerstitial infiltrates predominantly composed of CD8 T cells. url:http://en.wikipedia.org/wiki/Diffuse_infiltrative_lymphocytosis_syndrome url:http://www.ncbi.nlm.nih.gov/pubmed/21295898 A syndrome that affects the teeth, nails, hair, and/or skin. It is characterized by absence (hypodontia) and/or malformation of certain primary (deciduous) and secondary (permanent) teeth occurring in association with improper development of the nails, particularly the toenails. MESH:C536736 NCI:C40553 OMIM:189500 SNOMEDCT_US_2016_03_01:239039003 SNOMEDCT_US_2016_03_01:400036004 SNOMEDCT_US_2016_03_01:68897000 UMLS_CUI:C0406735 Hypoplastic enamel-onycholysis-hypohidrosis syndrome Hypoplastic enamel-onycholysis-hypohidrosis syndrome (disorder) Tooth and Nail syndrome Witkop's syndrome disease_ontology DOID:6678 OMIM mapping confirmed by DO. [LS]. tooth and nail syndrome A syndrome that affects the teeth, nails, hair, and/or skin. It is characterized by absence (hypodontia) and/or malformation of certain primary (deciduous) and secondary (permanent) teeth occurring in association with improper development of the nails, particularly the toenails. url:http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Tooth%20and%20Nail%20Syndrome Hypoplastic enamel-onycholysis-hypohidrosis syndrome MTH:NOCODE Hypoplastic enamel-onycholysis-hypohidrosis syndrome (disorder) SNOMEDCT_2005_07_31:400036004 Tooth and Nail syndrome NCI2004_11_17:C40553 Witkop's syndrome SNOMEDCT_2005_07_31:239039003 Witkop's syndrome SNOMEDCT_2005_07_31:68897000 A myositis that is accompanied by ossification of muscle tissue or bony deposits in the muscles. MESH:D009221 NCI:C3253 SNOMEDCT_US_2016_03_01:156720008 SNOMEDCT_US_2016_03_01:203030008 SNOMEDCT_US_2016_03_01:44551007 UMLS_CUI:C0027122 Myisitis ossificans Ossification - muscle disease_ontology DOID:668 myositis ossificans A myositis that is accompanied by ossification of muscle tissue or bony deposits in the muscles. url:http://en.wikipedia.org/wiki/Myositis_ossificans url:http://www.merriam-webster.com/medlineplus/myositis Myisitis ossificans MTHICD9_2006:728.12 Ossification - muscle SNOMEDCT_2005_07_31:203030008 A delusional disorder in which a person holds a delusion that a friend, spouse, parent, or other close family member has been replaced by an identical-looking impostor. MESH:D002194 NCI:C34446 SNOMEDCT_US_2016_03_01:44906001 UMLS_CUI:C0006895 Capgras delusion theory disease_ontology DOID:6680 Capgras syndrome A delusional disorder in which a person holds a delusion that a friend, spouse, parent, or other close family member has been replaced by an identical-looking impostor. url:http://en.wikipedia.org/wiki/Capgras_delusion disease_ontology DOID:6681 No OMIM mapping, confirmed by DO. [LS]. diffuse leiomyomatosis syndrome true A bone structure disease that has_material_basis_in displacement located_in set of vertebrae. ICD10CM:M43.1 ICD10CM:M43.10 MESH:D013168 NCI:C35033 OMIM:184200 SNOMEDCT_US_2016_03_01:157003009 SNOMEDCT_US_2016_03_01:268349005 SNOMEDCT_US_2016_03_01:274152003 UMLS_CUI:C0038016 disease_ontology DOID:6682 spondylolisthesis A bone structure disease that has_material_basis_in displacement located_in set of vertebrae. url:http://en.wikipedia.org/wiki/Spondylolisthesis url:http://orthoinfo.aaos.org/topic.cfm?topic=a00053 url:http://www.medicinenet.com/spondylolisthesis/article.htm url:http://www.nlm.nih.gov/medlineplus/ency/article/001260.htm url:http://www.umm.edu/spinecenter/education/spondylolysis_spondylolisthesis.htm A monogenic disease affects a person's height, muscles, skeleton, genitals, and appearance of the face. ICD10CM:Q87.1 MESH:C535331 OMIM:100050 SNOMEDCT_US_2016_03_01:14921002 SNOMEDCT_US_2016_03_01:205809002 UMLS_CUI:C0175701 Aarskog-Scott syndrome Greig's syndrome faciogenital dysplasia disease_ontology DOID:6683 OMIM mapping confirmed by DO. [SN]. Aarskog syndrome A monogenic disease affects a person's height, muscles, skeleton, genitals, and appearance of the face. url:http://www.nlm.nih.gov/medlineplus/ency/article/001654.htm Greig's syndrome NCI2004_11_17:C35255 A syndrome that involves arachnodactyly, receding lower jaw, and joint laxity limited to the hands and feet. MESH:C536012 NCI:C35809 OMIM:100700 UMLS_CUI:C1332135 disease_ontology DOID:6686 OMIM mapping confirmed by DO. [SN]. Achard syndrome A syndrome that involves arachnodactyly, receding lower jaw, and joint laxity limited to the hands and feet. url:http://en.wikipedia.org/wiki/Achard_syndrome NCI:C35467 SNOMEDCT_US_2016_03_01:238824006 UMLS_CUI:C0473563 Paroxysmal hematoma of the finger (disorder) disease_ontology DOID:6687 Achenbach syndrome Paroxysmal hematoma of the finger (disorder) SNOMEDCT_2005_07_31:238824006 A hypersensitivity reaction type IV disease that is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). It is characterized by the production of an abnormally large number of lymphocytes. Accumulation of excess lymphocytes results in enlargement of the lymph nodes, the liver, and the spleen. CSP:1560-5548 ICD10CM:D47.9 ICD10CM:D89.82 ICD9CM:279.41 MESH:D056735 NCI:C37864 OMIM:601859 ORDO:3261 SNOMEDCT_US_2016_03_01:702444009 UMLS_CUI:C1328840 ALPS (autoimmune lymphoproliferative syndrome) Canale-Smith syndrome disease_ontology DOID:6688 Xref MGI. OMIM mapping confirmed by DO. [SN]. autoimmune lymphoproliferative syndrome A hypersensitivity reaction type IV disease that is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). It is characterized by the production of an abnormally large number of lymphocytes. Accumulation of excess lymphocytes results in enlargement of the lymph nodes, the liver, and the spleen. url:http://ghr.nlm.nih.gov/condition/autoimmune-lymphoproliferative-syndrome ALPS (autoimmune lymphoproliferative syndrome) CSP2005:0427-1178 Fat adherence syndrome of extraocular muscle (disorder) disease_ontology DOID:6689 adherence syndrome true Fat adherence syndrome of extraocular muscle (disorder) SNOMEDCT_2005_07_31:416236009 disease_ontology DOID:6690 acroparesthesia syndrome true A syndrome that is characterized by congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant cell hepatitis with fibrosis of the portal tracts. MESH:C535330 NCI:C35709 OMIM:214900 ORDO:1414 SNOMEDCT_US_2016_03_01:28724005 UMLS_CUI:C0268314 Cholestasis-edema syndrome, Norwegian type (disorder) disease_ontology DOID:6691 OMIM mapping confirmed by DO. [SN]. Aagenaes syndrome A syndrome that is characterized by congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant cell hepatitis with fibrosis of the portal tracts. url:http://en.wikipedia.org/wiki/Aagenaes_syndrome Cholestasis-edema syndrome, Norwegian type (disorder) SNOMEDCT_2005_07_31:28724005 A syndrome that involves occipital head aches, nystagmus on head movement, tinnitus, spasms, blurred vision, corneal hyperaesthesia, and corneal ulcers. ICD10CM:M53.0 MESH:D055010 NCI:C34411 SNOMEDCT_US_2016_03_01:17300000 UMLS_CUI:C0376378 Cervicocranial syndrome Cervicocranial syndrome (disorder) Posterior cervical sympathetic syndrome disease_ontology DOID:6692 No OMIM mapping confirmed by DO. [SN]. Barre-Lieou syndrome A syndrome that involves occipital head aches, nystagmus on head movement, tinnitus, spasms, blurred vision, corneal hyperaesthesia, and corneal ulcers. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1738935/ Cervicocranial syndrome ICD9CM_2006:723.2 Cervicocranial syndrome NCI2004_11_17:C34411 Cervicocranial syndrome (disorder) SNOMEDCT_2005_07_31:17300000 Posterior cervical sympathetic syndrome MTHICD9_2006:723.2 NCI:C39935 UMLS_CUI:C1515290 disease_ontology DOID:6693 testicular monophasic choriocarcinoma NCI:C6471 UMLS_CUI:C1336544 disease_ontology DOID:6696 synchronous multifocal osteogenic sarcoma NCI:C6472 UMLS_CUI:C1332342 disease_ontology DOID:6697 asynchronous multifocal osteogenic sarcoma nervous tissue disease disease_ontology DOID:67 neural tissue disease true A substance abuse that involves the recurring use of amphetamines despite negative consequences. DOID:12067 DOID:14436 DOID:669 ICD9CM:305.7 UMLS_CUI:C0154536 disease_ontology DOID:670 amphetamine abuse A substance abuse that involves the recurring use of amphetamines despite negative consequences. url:http://en.wikipedia.org/wiki/Amphetamine_Abuse NCI:C8398 SNOMEDCT_US_2016_03_01:254555008 UMLS_CUI:C0345799 cancer of Fundus of stomach carcinoma of fundus of stomach (disorder) disease_ontology DOID:6700 gastric fundus carcinoma cancer of Fundus of stomach NCI2004_11_17:C8398 carcinoma of fundus of stomach (disorder) SNOMEDCT_2005_07_31:254555008 recurrent carcinoma of the stomach recurrent gastric cancer disease_ontology DOID:6702 recurrent stomach cancer true recurrent carcinoma of the stomach NCI2004_11_17:C9237 recurrent gastric cancer MTH:NOCODE NCI:C6795 UMLS_CUI:C1333787 carcinoma of Pylorus of stomach disease_ontology DOID:6703 gastric pylorus carcinoma carcinoma of Pylorus of stomach NCI2004_11_17:C6795 Undifferentiated carcinoma of stomach disease_ontology DOID:6704 anaplastic gastric carcinoma true Undifferentiated carcinoma of stomach NCI2004_11_17:C5476 NCI:C8399 SNOMEDCT_US_2016_03_01:254557000 UMLS_CUI:C0345804 cancer of body of stomach carcinoma of body of stomach (disorder) disease_ontology DOID:6705 gastric body carcinoma cancer of body of stomach NCI2004_11_17:C8399 carcinoma of body of stomach (disorder) SNOMEDCT_2005_07_31:254557000 NCI:C40959 UMLS_CUI:C1515294 disease_ontology DOID:6706 tubular variant testicular seminoma NCI:C4335 SNOMEDCT_US_2016_03_01:189951004 SNOMEDCT_US_2016_03_01:354002 SNOMEDCT_US_2016_03_01:404040002 UMLS_CUI:C0334616 MPNST with Rhabdomyosarcoma MPNST with rhabdomyoblastic differentiation malignant Triton tumor (disorder) malignant Triton tumour malignant peripheral nerve sheath neoplasm with rhabdomyosarcoma disease_ontology DOID:6707 malignant triton tumor MPNST with Rhabdomyosarcoma NCI2004_11_17:C4335 MPNST with rhabdomyoblastic differentiation SNOMEDCT_2005_07_31:354002 malignant Triton tumor (disorder) SNOMEDCT_2005_07_31:404040002 malignant Triton tumour SNOMEDCT_2005_07_31:189951004 relapsed carcinoma of Ovary disease_ontology DOID:6708 recurrent ovarian epithelial cancer true relapsed carcinoma of Ovary NCI2004_11_17:C7833 secondary carcinoma from the anus disease_ontology DOID:6710 metastatic anal cancer true secondary carcinoma from the anus NCI2004_11_17:C5612 MESH:D020759 SNOMEDCT_US_2016_03_01:2972007 UMLS_CUI:C0221069 Anterior spinal artery occlusion syndrome (disorder) disease_ontology DOID:6712 anterior spinal artery syndrome Anterior spinal artery occlusion syndrome (disorder) SNOMEDCT_2005_07_31:2972007 An artery disease that is characterized by dysfunction of the blood vessels supplying the brain. DOID:12214 DOID:3455 DOID:8231 EFO:0000712 ICD10CM:I60-I69 ICD10CM:I63.9 ICD10CM:I67.9 ICD9CM:430-438.99 ICD9CM:437.9 MESH:D002561 MESH:D020521 NCI:C2938 NCI:C3390 OMIM:601367 SNOMEDCT_US_2016_03_01:155388006 SNOMEDCT_US_2016_03_01:155405006 SNOMEDCT_US_2016_03_01:155412002 SNOMEDCT_US_2016_03_01:195208004 SNOMEDCT_US_2016_03_01:195249004 SNOMEDCT_US_2016_03_01:195595007 SNOMEDCT_US_2016_03_01:230690007 SNOMEDCT_US_2016_03_01:266312006 SNOMEDCT_US_2016_03_01:266315008 SNOMEDCT_US_2016_03_01:270883006 SNOMEDCT_US_2016_03_01:313267000 SNOMEDCT_US_2016_03_01:62914000 SNOMEDCT_US_2016_03_01:82797006 UMLS_CUI:C0007820 UMLS_CUI:C0038454 CVA (cerebral vascular accident) Cerebrovascular accident (disorder) cerebrovascular accident cerebrovascular disorder stroke disease_ontology DOID:6713 OMIM mapping confirmed by DO. [SN]. cerebrovascular disease An artery disease that is characterized by dysfunction of the blood vessels supplying the brain. url:http://en.wikipedia.org/wiki/Cerebrovascular_disease url:http://www.ncbi.nlm.nih.gov/books/NBK378/ CVA (cerebral vascular accident) CSP2005:0617-5539 Cerebrovascular accident (disorder) SNOMEDCT_2005_07_31:230690007 Circumscribed Storiform Collagenoma Circumscribed storiform collagenoma (disorder) disease_ontology DOID:6714 circumscribed storiform collagenoma true Circumscribed Storiform Collagenoma NCI2004_11_17:C4706 Circumscribed storiform collagenoma (disorder) SNOMEDCT_2005_07_31:239137003 Collagen hamartoma (morphologic abnormality) Collagen naevus Collagen nevus Collagen nevus of skin (disorder) disease_ontology DOID:6715 collagen nevus of skin true Collagen hamartoma (morphologic abnormality) SNOMEDCT_2005_07_31:44133001 Collagen naevus SNOMEDCT_2005_07_31:19291000 Collagen nevus NCI2004_11_17:C8371 Collagen nevus of skin (disorder) SNOMEDCT_2005_07_31:399926001 Eruptive collagenoma (disorder) disease_ontology DOID:6716 eruptive collagenoma true Eruptive collagenoma (disorder) SNOMEDCT_2005_07_31:239138008 A lymphatic system cancer that affects white blood cells and involves tumor deposits in the spleen. DOID:671 ICD10CM:C26.1 MESH:D013160 NCI:C3383 NCI:C3539 SNOMEDCT_US_2016_03_01:127230005 SNOMEDCT_US_2016_03_01:187823003 SNOMEDCT_US_2016_03_01:254616004 SNOMEDCT_US_2016_03_01:363499005 SNOMEDCT_US_2016_03_01:94071006 UMLS_CUI:C0037999 UMLS_CUI:C0153470 Splenic neoplasm malignant Splenic tumor malignant tumour of spleen spleen neoplasm disease_ontology DOID:672 spleen cancer A lymphatic system cancer that affects white blood cells and involves tumor deposits in the spleen. url:http://www.wrongdiagnosis.com/s/spleen_cancer/intro.htm Splenic neoplasm NCI2004_11_17:C3383 malignant Splenic tumor NCI2004_11_17:C3539 malignant tumour of spleen SNOMEDCT_2005_07_31:254616004 spleen neoplasm CSP2005:2004-6589 A male reproductive organ cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is_located_in the Littre glands. NCI:C39865 UMLS_CUI:C1516285 disease_ontology DOID:6721 Littre gland carcinoma A male reproductive organ cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is_located_in the Littre glands. url:http://en.wikipedia.org/wiki/Urethral_gland NCI:C6886 SNOMEDCT_US_2016_03_01:128710005 UMLS_CUI:C1266093 Thymoma, mixed type, malignant disease_ontology DOID:6723 malignant type AB thymoma Thymoma, mixed type, malignant SNOMEDCT_2005_07_31:128710005 A bone deterioration disease that has_material_basis_in bony spurs, disc degeneration, or thickened ligaments which results_in narrowing located_in spinal cord. DOID:10097 DOID:12235 ICD10CM:M48.0 ICD10CM:M48.00 ICD10CM:M48.02 ICD10CM:M48.06 ICD9CM:723.0 ICD9CM:724.00 MESH:D013130 SNOMEDCT_US_2016_03_01:156640006 SNOMEDCT_US_2016_03_01:156646000 SNOMEDCT_US_2016_03_01:18347007 SNOMEDCT_US_2016_03_01:202780000 SNOMEDCT_US_2016_03_01:202781001 SNOMEDCT_US_2016_03_01:202791007 SNOMEDCT_US_2016_03_01:268082002 SNOMEDCT_US_2016_03_01:76107001 SNOMEDCT_US_2016_03_01:83561009 UMLS_CUI:C0037944 UMLS_CUI:C0158280 UMLS_CUI:C0158288 Spinal stenosis of lumbar region cervical spinal stenosis lumbar spinal stenosis disease_ontology DOID:6725 spinal stenosis A bone deterioration disease that has_material_basis_in bony spurs, disc degeneration, or thickened ligaments which results_in narrowing located_in spinal cord. url:http://en.wikipedia.org/wiki/Spinal_stenosis url:http://www.mayoclinic.com/health/spinal-stenosis/DS00515 url:http://www.nlm.nih.gov/medlineplus/ency/article/000441.htm url:http://www.spinalstenosis.org/ Spinal stenosis of lumbar region ICD9CM_2006:724.02 An astrocytoma that is characterized as a low grade astrocytoma and has_material_basis_in neoplastic astrocytes. MESH:D001254 NCI:C4322 SNOMEDCT_US_2016_03_01:253063006 SNOMEDCT_US_2016_03_01:71314006 UMLS_CUI:C0334582 Fibrillary Astrocytic tumors diffuse astrocytoma disease_ontology DOID:6726 fibrillary astrocytoma An astrocytoma that is characterized as a low grade astrocytoma and has_material_basis_in neoplastic astrocytes. url:http://en.wikipedia.org/wiki/Fibrillary_astrocytoma url:http://www.braintumour.ca/4877/diffuse-astrocytoma-/-fibrillary-astrocytoma url:http://www.cancer.gov/dictionary?CdrID=45602 Fibrillary Astrocytic tumors NCI2004_11_17:C4322 NCI:C6761 UMLS_CUI:C1333099 Colonic small cell carcinoma disease_ontology DOID:6727 colon small cell carcinoma Colonic small cell carcinoma NCI2004_11_17:C6761 disease_ontology DOID:6728 recurrent pediatric optic nerve astrocytoma true disease_ontology DOID:6729 recurrent pediatric optic nerve glioma true recurrent pediatric visual pathway astrocytoma disease_ontology DOID:6730 recurrent childhood optic tract astrocytoma true recurrent pediatric visual pathway astrocytoma NCI2004_11_17:C7530 relapsed glioma of the pediatric visual pathway disease_ontology DOID:6731 recurrent glioma of childhood visual pathway true relapsed glioma of the pediatric visual pathway NCI2004_11_17:C7529 NCI:C96835 UMLS_CUI:C1334257 Cystadenoma of the Intrahepatic bile duct disease_ontology DOID:6733 intrahepatic bile duct cystadenoma Cystadenoma of the Intrahepatic bile duct NCI2004_11_17:C7127 NCI:C5323 UMLS_CUI:C1334300 Neurilemmoma of Jugular Foramen disease_ontology DOID:6735 schwannoma of jugular foramen Neurilemmoma of Jugular Foramen NCI2004_11_17:C5323 An orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate. ICD10CM:Q35 ICD10CM:Q35.9 ICD9CM:749.0 ICD9CM:749.00 MESH:D002972 NCI:C87069 ORDO:99772 SNOMEDCT_US_2016_03_01:156940009 SNOMEDCT_US_2016_03_01:204593009 SNOMEDCT_US_2016_03_01:204605001 SNOMEDCT_US_2016_03_01:253986002 SNOMEDCT_US_2016_03_01:268196005 SNOMEDCT_US_2016_03_01:87979003 UMLS_CUI:C0008925 Palatoschisis Uranostaphyloschisis (disorder) cleft velum disease_ontology DOID:674 OMIM mapping confirmed by DO. [SN]. cleft palate An orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate. url:http://en.wikipedia.org/wiki/Cleft_lip_and_palate#Cleft_palate url:http://ghr.nlm.nih.gov/glossary=cleftpalate Palatoschisis SNOMEDCT_2005_07_31:253986002 Uranostaphyloschisis (disorder) SNOMEDCT_2005_07_31:63567004 NCI:C7982 UMLS_CUI:C0279674 small cell carcinoma of the Cervix Uteri disease_ontology small cell carcinoma of the cervix DOID:6740 cervix small cell carcinoma small cell carcinoma of the Cervix Uteri NCI2004_11_17:C7982 A breast carcinoma that is characterized by an individual having breast cancer in both breasts, either simultaneously or at different times. NCI:C8287 UMLS_CUI:C0281267 Bilateral breast carcinoma disease_ontology DOID:6741 bilateral breast cancer A breast carcinoma that is characterized by an individual having breast cancer in both breasts, either simultaneously or at different times. url:http://www.ehow.com/facts_5923640_treatments-bilateral-breast-cancer_.html Bilateral breast carcinoma NCI2004_11_17:C8287 NCI:C40370 UMLS_CUI:C1515107 disease_ontology DOID:6742 synchronous bilateral breast carcinoma relapsed malignant fibrous Histiocytoma disease_ontology DOID:6750 malignant fibrous histiocytoma recurrent true relapsed malignant fibrous Histiocytoma NCI2004_11_17:C8795 NCI:C5452 UMLS_CUI:C1334226 Lipoma of the Internal Auditory canal disease_ontology DOID:6752 internal auditory canal lipoma Lipoma of the Internal Auditory canal NCI2004_11_17:C5452 SNOMEDCT_US_2016_03_01:37279009 UMLS_CUI:C0333572 Amyloid neoplasm Amyloid tumor (morphologic abnormality) disease_ontology DOID:6755 amyloid tumor Amyloid neoplasm NCI2004_11_17:C8323 Amyloid tumor (morphologic abnormality) SNOMEDCT_2005_07_31:37279009 A thoracic cancer that is located_in the chest wall. DOID:3724 NCI:C4580 NCI:C6712 SNOMEDCT_US_2016_03_01:188363005 SNOMEDCT_US_2016_03_01:712750007 SNOMEDCT_US_2016_03_01:93754006 UMLS_CUI:C0346948 UMLS_CUI:C1332933 Lymphoma of the Chest Wall chest wall cancer lymphoma of chest wall malignant neoplasm of chest wall malignant neoplasm of chest wall NOS (disorder) malignant tumor of Chest Wall disease_ontology DOID:6758 chest wall lymphoma A thoracic cancer that is located_in the chest wall. url:http://en.wikipedia.org/wiki/Chest_wall Lymphoma of the Chest Wall NCI2004_11_17:C6712 malignant neoplasm of chest wall SNOMEDCT_2005_07_31:93754006 malignant neoplasm of chest wall NOS (disorder) SNOMEDCT_2005_07_31:188363005 malignant tumor of Chest Wall NCI2004_11_17:C4580 A bone cancer and lymphoma by site that results_in lymphoma starting in the bone. NCI:C6620 UMLS_CUI:C1332582 Lymphoma of the bone lymphoma of bone disease_ontology DOID:6759 bone lymphoma A bone cancer and lymphoma by site that results_in lymphoma starting in the bone. url:http://lymphoma.about.com/od/nonhodgkinlymphoma/qt/bonelymphoma.htm url:http://www.lymphomainfo.net/nhl/types/bone.html Lymphoma of the bone NCI2004_11_17:C6620 A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint. DOID:10129 DOID:1264 DOID:675 ICD10CM:M08.4 ICD10CM:M08.40 ICD9CM:714.3 ICD9CM:714.31 ICD9CM:714.32 ICD9CM:714.33 MESH:D001171 NCI:C26979 NCI:C61279 OMIM:604302 ORDO:92 SNOMEDCT_US_2016_03_01:201798003 SNOMEDCT_US_2016_03_01:201799006 SNOMEDCT_US_2016_03_01:201803007 SNOMEDCT_US_2016_03_01:201809006 SNOMEDCT_US_2016_03_01:74391003 SNOMEDCT_US_2016_03_01:7441009 SNOMEDCT_US_2016_03_01:75822003 SNOMEDCT_US_2016_03_01:83793004 UMLS_CUI:C0157916 UMLS_CUI:C0157917 UMLS_CUI:C0157918 UMLS_CUI:C0409667 Pauciarticular onset juvenile chronic arthritis acute juvenile rheumatoid arthritis juvenile chronic polyarthritis juvenile idiopathic arthritis monarticular juvenile rheumatoid arthritis pauciarticular juvenile arthritis systemic juvenile rheumatoid arthritis disease_ontology DOID:676 Xref MGI. juvenile rheumatoid arthritis A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint. url:http://www.mayoclinic.com/health/juvenile-rheumatoid-arthritis/DS00018 url:http://www.nlm.nih.gov/medlineplus/ency/article/000451.htm url:http://www.umm.edu/ency/article/000451.htm Pauciarticular onset juvenile chronic arthritis SNOMEDCT_2005_07_31:201809006 UMLS_CUI:C0519063 lymphoma of lung pulmonary Lymphoma disease_ontology DOID:6760 lung lymphoma pulmonary Lymphoma NCI2004_11_17:C4794 Cutaneous lymphoma (disorder) Cutaneous lymphoma, NOS disease_ontology DOID:6761 skin lymphoma true Cutaneous lymphoma (disorder) SNOMEDCT_2005_07_31:255099004 Cutaneous lymphoma, NOS SNOMEDCT_2005_07_31:28054005 NCI:C6716 UMLS_CUI:C1336504 Lymphoma of Sternum lymphoma of the sternum disease_ontology DOID:6762 sternum lymphoma Lymphoma of Sternum NCI2004_11_17:C6716 peripheral neuroblastoma disease_ontology DOID:6764 peripheral neuroblastoma true peripheral neuroblastoma SNOMEDCT_2005_07_31:254764001 NCI:C39990 UMLS_CUI:C1514199 disease_ontology DOID:6774 polyembryoma of the ovary NCI:C40395 UMLS_CUI:C1518167 disease_ontology DOID:6776 breast myoepithelial carcinoma NCI:C27846 UMLS_CUI:C1336962 disease_ontology DOID:6777 villoglandular endometrial endometrioid adenocarcinoma localized Urothelial carcinoma of the renal Pelvis and Ureter disease_ontology DOID:6778 renal pelvis and ureter localized transitional cell cancer true localized Urothelial carcinoma of the renal Pelvis and Ureter NCI2004_11_17:C8167 A movement disease characterized by serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. It involves gradual deterioration and death of specific volumes of the brain. ICD10CM:G23.1 MESH:D013494 NCI:C85028 OMIM:601104 OMIM:609454 OMIM:610898 ORDO:683 SNOMEDCT_US_2016_03_01:192975003 SNOMEDCT_US_2016_03_01:192976002 SNOMEDCT_US_2016_03_01:28978003 UMLS_CUI:C0038868 Steele-Richardson-Olszewski syndrome progressive supranuclear ophthalmoplegia disease_ontology DOID:678 Xref MGI. OMIM mapping confirmed by DO. [SN]. progressive supranuclear palsy A movement disease characterized by serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. It involves gradual deterioration and death of specific volumes of the brain. url:http://en.wikipedia.org/wiki/Progressive_supranuclear_palsy url:http://www.ninds.nih.gov/disorders/psp/psp.htm progressive supranuclear ophthalmoplegia MTHICD9_2006:333.0 disease_ontology DOID:6784 pediatric desmoplastic small round cell tumor true desmoplastic small round cell tumor (morphologic abnormality) desmoplastic small round-cell neoplasm disease_ontology DOID:6785 desmoplastic small round cell tumor true desmoplastic small round cell tumor (morphologic abnormality) SNOMEDCT_2005_07_31:128735004 desmoplastic small round-cell neoplasm NCI2004_11_17:C8300 NCI:C35574 UMLS_CUI:C1332944 childhood sarcoma Botryoides disease_ontology DOID:6786 childhood botryoid rhabdomyosarcoma childhood sarcoma Botryoides NCI2004_11_17:C35574 NCI:C35556 UMLS_CUI:C1332945 vaginal childhood sarcoma Botryoides disease_ontology DOID:6787 childhood vagina botryoid rhabdomyosarcoma vaginal childhood sarcoma Botryoides NCI2004_11_17:C35556 NCI:C40268 UMLS_CUI:C1511275 disease_ontology DOID:6788 vagina botryoid rhabdomyosarcoma NCI:C36098 UMLS_CUI:C1332946 childhood sarcoma Botryoides of the Vulva disease_ontology DOID:6789 vulvar childhood botryoid-type embryonal rhabdomyosarcoma childhood sarcoma Botryoides of the Vulva NCI2004_11_17:C36098 CSP:2057-3403 MESH:D001480 SNOMEDCT_US_2016_03_01:70835005 UMLS_CUI:C0004782 disease_ontology DOID:679 basal ganglia disease mixed Yolk Sac tumor and teratoma with Seminoma of testis disease_ontology DOID:6792 mixed endodermal sinus neoplasm and teratoma with seminoma of the testis true mixed Yolk Sac tumor and teratoma with Seminoma of testis NCI2004_11_17:C8003 disease_ontology DOID:68 lymphomyeloid tissue disease true A neurodegenerative disease that has_material_basis_in the pathological aggregation of tau protein in so-called neurofibrillary tangles (NFT) in the human brain. MESH:D024801 UMLS_CUI:C0949664 disease_ontology DOID:680 tauopathy A neurodegenerative disease that has_material_basis_in the pathological aggregation of tau protein in so-called neurofibrillary tangles (NFT) in the human brain. url:http://en.wikipedia.org/wiki/Tauopathy A hematoloic cancer that is located_in the blood or bone marrow that has come back in a patient. recurrent Hematologic Malignancy disease_ontology DOID:6801 recurrent hematologic cancer true A hematoloic cancer that is located_in the blood or bone marrow that has come back in a patient. url:http://www.cancer.gov/dictionary/?CdrID=45708 url:http://www.cancer.org/docroot/CRI/content/CRI_2_4_1x_What_is_Recurrent_Cancer.asp recurrent Hematologic Malignancy NCI2004_11_17:C27358 disease_ontology DOID:6802 relapsed precursor T lymphoblastic lymphoma/leukemia true A recurrent hematologic cancer that is located_in bone marrow and is characterized by the production of too many lymphocytes. relapsed adult acute lymphoid Leukemia disease_ontology DOID:6803 recurrent adult acute lymphocytic leukemia true A recurrent hematologic cancer that is located_in bone marrow and is characterized by the production of too many lymphocytes. url:http://my.clevelandclinic.org/disorders/acute_lymphocytic_leukemia/hic_adult_acute_lymphoblastic_leukemia.aspx relapsed adult acute lymphoid Leukemia NCI2004_11_17:C7883 A sarcoma of colon that is located_in the colon. NCI:C5516 UMLS_CUI:C1333091 Colonic Kaposi's sarcoma disease_ontology DOID:6804 colon Kaposi sarcoma A sarcoma of colon that is located_in the colon. url:http://www.cancer.org/docroot/cri/content/cri_2_4_3x_how_is_kaposis_sarcoma_diagnosed_21.asp Colonic Kaposi's sarcoma NCI2004_11_17:C5516 Moniliform hamartoma (disorder) disease_ontology DOID:6807 hamartoma Moniliformis true Moniliform hamartoma (disorder) SNOMEDCT_2005_07_31:239128003 Basal cell nevus with Comedones disease_ontology DOID:6808 Basaloid follicular hamartoma true Basal cell nevus with Comedones NCI2004_11_17:C4749 NCI:C40257 UMLS_CUI:C1519932 disease_ontology DOID:6809 vaginal tubular adenoma ICD10CM:G12.22 ICD9CM:335.22 MESH:D010244 NCI:C85026 SNOMEDCT_US_2016_03_01:230547002 SNOMEDCT_US_2016_03_01:54304004 UMLS_CUI:C0030442 disease_ontology DOID:681 progressive bulbar palsy MESH:D001254 NCI:C27081 UMLS_CUI:C0280783 disease_ontology DOID:6811 juvenile pilocytic astrocytoma NCI:C4048 UMLS_CUI:C1332995 pediatric Pilocytic astrocytoma disease_ontology DOID:6812 childhood pilocytic astrocytoma pediatric Pilocytic astrocytoma NCI2004_11_17:C4048 ICD10CM:T79.A0 ICD9CM:958.90 MESH:D003161 NCI:C118422 SNOMEDCT_US_2016_03_01:111245009 SNOMEDCT_US_2016_03_01:212379008 SNOMEDCT_US_2016_03_01:45781009 UMLS_CUI:C0009492 Compartment syndrome Compartment syndrome (disorder) Compartmental syndrome, NOS disease_ontology DOID:682 compartment syndrome Compartment syndrome SNOMEDCT_2005_07_31:212379008 Compartment syndrome (disorder) SNOMEDCT_2005_07_31:111245009 Compartmental syndrome, NOS SNOMEDCT_2005_07_31:45781009 grade III pediatric astrocytoma of the brain disease_ontology DOID:6820 anaplastic childhood astrocytoma of brain true grade III pediatric astrocytoma of the brain NCI2004_11_17:C6252 MESH:C537162 NCI:C4265 SNOMEDCT_US_2016_03_01:189814006 SNOMEDCT_US_2016_03_01:53618008 UMLS_CUI:C0334489 Pancreatoblastoma (morphologic abnormality) disease_ontology DOID:6823 pancreatoblastoma Pancreatoblastoma (morphologic abnormality) SNOMEDCT_2005_07_31:53618008 relapsed pancreatic carcinoma disease_ontology DOID:6826 recurrent cancer of pancreas true relapsed pancreatic carcinoma NCI2004_11_17:C7626 A pancreatic carcinoma that is characterized by its papillary architecture. NCI:C5728 UMLS_CUI:C1336029 pancreatic solid Pseudopapillary carcinoma disease_ontology DOID:6827 pancreatic solid pseudopapillary carcinoma A pancreatic carcinoma that is characterized by its papillary architecture. url:http://en.wikipedia.org/wiki/Solid_pseudopapillary_tumour url:http://www.ncbi.nlm.nih.gov/pubmed/19268906 pancreatic solid Pseudopapillary carcinoma NCI2004_11_17:C5728 Unresectable pancreatic carcinoma disease_ontology DOID:6828 non-resectable pancreatic carcinoma true Unresectable pancreatic carcinoma NCI2004_11_17:C5018 MESH:D009443 NCI:C3500 SNOMEDCT_US_2016_03_01:95663000 UMLS_CUI:C0235025 peripheral motor Neuropathy peripheral motor neuropathy (disorder) disease_ontology DOID:683 motor neuritis peripheral motor Neuropathy NCI2004_11_17:C3500 peripheral motor neuropathy (disorder) SNOMEDCT_2005_07_31:95663000 pancreatic carcinoma, Resectable disease_ontology DOID:6830 resectable pancreas carcinoma true pancreatic carcinoma, Resectable NCI2004_11_17:C5099 recurrent anal canal cancer disease_ontology DOID:6835 recurrent anal cancer true recurrent anal canal cancer NCI2004_11_17:C7793 NCI:C40018 SNOMEDCT_US_2016_03_01:703654008 UMLS_CUI:C1514905 disease_ontology DOID:6837 rete ovarii adenoma NCI:C40020 UMLS_CUI:C1514906 disease_ontology DOID:6838 rete ovarii cystadenofibroma NCI:C27942 UMLS_CUI:C1334631 Intraductal Proliferative Lesion disease_ontology DOID:6839 breast intraductal proliferative lesion Intraductal Proliferative Lesion NCI2004_11_17:C27942 A liver carcinoma that has_material_basis_in undifferentiated hepatocytes. DOID:5005 EFO:0000182 NCI:C7711 NCI:C7956 OMIM:114550 UMLS_CUI:C0279607 HCC Hepatoma adult Hepatoma adult primary hepatocellular carcinoma disease_ontology DOID:684 OMIM mapping confirmed by DO. [SN]. hepatocellular carcinoma A liver carcinoma that has_material_basis_in undifferentiated hepatocytes. url:http://cancergenome.nih.gov/cancersselected/LiverHepatocellularCarcinoma url:http://en.wikipedia.org/wiki/Hepatocellular_carcinoma url:http://www.omim.org/entry/114550 HCC NCI2004_11_17:C3099 Hepatoma SNOMEDCT_2005_07_31:126851005 adult Hepatoma NCI2004_11_17:C7956 disease_ontology DOID:6840 glandular cell intraepithelial neoplasm true NCI:C36086 UMLS_CUI:C1333620 Flat ductal epithelial Atypia disease_ontology DOID:6841 flat ductal epithelial atypia Flat ductal epithelial Atypia NCI2004_11_17:C36086 NCI:C6186 UMLS_CUI:C1335752 sarcomatoid transitional cell carcinoma of renal Pelvis disease_ontology DOID:6844 kidney pelvis sarcomatoid transitional cell carcinoma sarcomatoid transitional cell carcinoma of renal Pelvis NCI2004_11_17:C6186 NCI:C39879 UMLS_CUI:C1512750 disease_ontology DOID:6845 infiltrating ureter transitional cell carcinoma NCI:C8498 UMLS_CUI:C1512419 disease_ontology DOID:6846 familial melanoma NCI:C36099 UMLS_CUI:C1332185 disease_ontology DOID:6847 adult botryoid rhabdomyosarcoma NCI:C40267 UMLS_CUI:C1515893 disease_ontology DOID:6848 adult vagina botryoid rhabdomyosarcoma A stage 0 cancer of the testis consisting of the uniform precursor of testicular germ cell tumors (GCTs). ITGCNU can be found in testicular tissue adjacent to GCTs in approximately 90 percent of adult cases and is found in all groups at risk for testicular cancer, including men with cryptorchid testes, prior testicular cancer, and individuals with abnormal sexual differentiation. ITGCNU testicular Intraepithelial Neoplasia disease_ontology DOID:6849 testicular intratubular germ cell neoplasia of the unclassified type true A stage 0 cancer of the testis consisting of the uniform precursor of testicular germ cell tumors (GCTs). ITGCNU can be found in testicular tissue adjacent to GCTs in approximately 90 percent of adult cases and is found in all groups at risk for testicular cancer, including men with cryptorchid testes, prior testicular cancer, and individuals with abnormal sexual differentiation. URL:http://www.uptodate.com/patients/content/topic.do;jsessionid=AF34B529665BBA3D33DEFFFC30543A6E.0503?topicKey=~Kq11UoNm8vmBaK&selectedTitle=1~8&source=search_result testicular Intraepithelial Neoplasia NCI2004_11_17:C40345 hamartoma of the Eccrine Sweat gland disease_ontology DOID:6850 hamartoma of Eccrine Sweat gland true hamartoma of the Eccrine Sweat gland NCI2004_11_17:C5564 Porokeratotic Eccrine duct and Hair Follicle nevus Porokeratotic eccrine ostial and dermal duct nevus (disorder) disease_ontology DOID:6851 Linear Eccrine nevus with Comedones true Porokeratotic Eccrine duct and Hair Follicle nevus NCI2004_11_17:C4740 Porokeratotic eccrine ostial and dermal duct nevus (disorder) SNOMEDCT_2005_07_31:239118007 Eccrine Angiomatous nevus Eccrine angiomatous hamartoma (disorder) disease_ontology DOID:6852 eccrine angiomatous hamartoma true Eccrine Angiomatous nevus NCI2004_11_17:C4703 Eccrine angiomatous hamartoma (disorder) SNOMEDCT_2005_07_31:239115005 NCI:C5309 UMLS_CUI:C1333475 primary Ectopic meningioma of ethmoidal sinus disease_ontology DOID:6854 ethmoid sinus ectopic meningioma primary Ectopic meningioma of ethmoidal sinus NCI2004_11_17:C5309 NCI:C6753 UMLS_CUI:C1335419 teratoma of Pineal Area disease_ontology DOID:6856 pineal region teratoma teratoma of Pineal Area NCI2004_11_17:C6753 NCI:C6754 UMLS_CUI:C1335417 Mature teratoma of the Pineal Area disease_ontology DOID:6857 pineal region mature teratoma Mature teratoma of the Pineal Area NCI2004_11_17:C6754 NCI:C6755 UMLS_CUI:C1335416 Atypical Pineal teratoma disease_ontology DOID:6858 pineal region immature teratoma Atypical Pineal teratoma NCI2004_11_17:C6755 A liver cancer that has_material_basis_in epithelial cells. NCI:C7927 UMLS_CUI:C0279000 Liver and Intrahepatic bile duct carcinoma disease_ontology DOID:686 liver carcinoma A liver cancer that has_material_basis_in epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma url:http://en.wikipedia.org/wiki/Liver_cancer Liver and Intrahepatic bile duct carcinoma NCI2004_11_17:C7927 disease_ontology DOID:6860 Endobronchial hamartoma true relapsed cancer of the gallbladder disease_ontology DOID:6861 recurrent cancer of gallbladder true relapsed cancer of the gallbladder NCI2004_11_17:C4008 NCI:C27849 UMLS_CUI:C1518768 disease_ontology DOID:6865 oxyphilic endometrial endometrioid adenocarcinoma NCI:C37870 UMLS_CUI:C1334657 disease_ontology DOID:6867 mediastinal gray zone lymphoma NCI:C6633 UMLS_CUI:C1334665 Lymphoma of mediastinum disease_ontology DOID:6868 mediastinal malignant lymphoma Lymphoma of mediastinum NCI2004_11_17:C6633 MESH:D008579 NCI:C4960 UMLS_CUI:C0751304 disease_ontology DOID:6869 parasagittal meningioma ICD10CM:C22.2 MESH:D018197 NCI:C3728 SNOMEDCT_US_2016_03_01:109843000 SNOMEDCT_US_2016_03_01:45024009 UMLS_CUI:C0206624 HBL disease_ontology DOID:687 hepatoblastoma HBL NCI2004_11_17:C3728 Cockade nevus (disorder) disease_ontology DOID:6870 cockade nevus true Cockade nevus (disorder) SNOMEDCT_2005_07_31:254804007 NCI:C5155 UMLS_CUI:C1336046 neuroblastoma of the Spinal Cord disease_ontology DOID:6871 spinal cord neuroblastoma neuroblastoma of the Spinal Cord NCI2004_11_17:C5155 NCI:C5406 UMLS_CUI:C1336048 Spinal Cord PNET disease_ontology DOID:6872 spinal cord primitive neuroectodermal neoplasm Spinal Cord PNET NCI2004_11_17:C5406 NCI:C3337 NCI:C3374 SNOMEDCT_US_2016_03_01:156440000 SNOMEDCT_US_2016_03_01:189051001 SNOMEDCT_US_2016_03_01:201091002 SNOMEDCT_US_2016_03_01:255183007 SNOMEDCT_US_2016_03_01:2710003 SNOMEDCT_US_2016_03_01:31069005 SNOMEDCT_US_2016_03_01:80801001 UMLS_CUI:C0037293 Fibroepithelial polyp Fibroepithelial polyp of skin cutaneous tag soft fibroma disease_ontology DOID:6873 skin tag Fibroepithelial polyp NCI2004_11_17:C3337 Fibroepithelial polyp of skin NCI2004_11_17:C3374 cutaneous tag CSP2005:2020-2747 soft fibroma SNOMEDCT_2005_07_31:2710003 disease_ontology DOID:6874 type 1a ALPS true pediatric mixed type Rhabdomyosarcoma disease_ontology DOID:6876 mixed childhood rhabdomyosarcoma true pediatric mixed type Rhabdomyosarcoma NCI2004_11_17:C7960 hamartoma of the Apocrine Sweat gland disease_ontology DOID:6879 hamartoma of Apocrine Sweat gland true hamartoma of the Apocrine Sweat gland NCI2004_11_17:C5563 A germ cell cancer that is associated with an embryo. MESH:D009373 NCI:C3264 UMLS_CUI:C0027654 embryo neoplasm embryonal neoplasm disease_ontology DOID:688 embryonal cancer A germ cell cancer that is associated with an embryo. url:http://www.cancer.gov/dictionary/?CdrID=44250 embryo neoplasm CSP2005:2000-3997 embryonal neoplasm NCI2004_11_17:C3264 A fibrosarcoma of soft tissue and small intestinal sarcoma that is located_in the small bowel. NCI:C5336 UMLS_CUI:C1335994 Fibrosarcoma, small Intestine disease_ontology DOID:6880 small bowel fibrosarcoma A fibrosarcoma of soft tissue and small intestinal sarcoma that is located_in the small bowel. url:http://en.wikipedia.org/wiki/Fibrosarcoma Fibrosarcoma, small Intestine NCI2004_11_17:C5336 NCI:C6176 UMLS_CUI:C1336878 ureteral small cell carcinoma disease_ontology DOID:6886 ureter small cell carcinoma ureteral small cell carcinoma NCI2004_11_17:C6176 recurrent Ureter carcinoma disease_ontology DOID:6887 recurrent ureteric cancer true recurrent Ureter carcinoma NCI2004_11_17:C9255 NCI:C4830 SNOMEDCT_US_2016_03_01:300988009 UMLS_CUI:C0577692 transitional cell carcinoma of ureter (disorder) ureteral Urothelial cell carcinoma disease_ontology DOID:6888 ureter transitional cell carcinoma transitional cell carcinoma of ureter (disorder) SNOMEDCT_2005_07_31:300988009 ureteral Urothelial cell carcinoma NCI2004_11_17:C4830 AIDS Related carcinoma of the uterine Cervix disease_ontology DOID:6893 AIDS-related cervical cancer true AIDS Related carcinoma of the uterine Cervix NCI2004_11_17:C7432 AIDS-Related Kaposi's sarcoma of Cervix disease_ontology DOID:6894 AIDS-related cervical Kaposi's sarcoma true AIDS-Related Kaposi's sarcoma of Cervix NCI2004_11_17:C7433 A Kaposi's sarcoma and AIDS-related malignancy that results_in the occurence of Kaposi's sarcoma in people that have progressed to AIDS. AIDS with Kaposi's sarcoma (disorder) Autoimmune deficiency syndrome-Related Kaposi sarcoma Epidemic Kaposi's sarcoma HIV disease resulting in Kaposi's sarcoma (disorder) disease_ontology DOID:6895 AIDS-related Kaposi's sarcoma true A Kaposi's sarcoma and AIDS-related malignancy that results_in the occurence of Kaposi's sarcoma in people that have progressed to AIDS. url:http://en.wikipedia.org/wiki/Kaposi%27s_sarcoma AIDS with Kaposi's sarcoma (disorder) SNOMEDCT_2005_07_31:77865003 Autoimmune deficiency syndrome-Related Kaposi sarcoma NCI2004_11_17:C3992 Epidemic Kaposi's sarcoma SNOMEDCT_2005_07_31:109385007 HIV disease resulting in Kaposi's sarcoma (disorder) SNOMEDCT_2005_07_31:186722007 disease_ontology DOID:6897 Malposition and malpresentation of fetus true UMLS_CUI:C0279392 mixed epithelial carcinoma of Ovary disease_ontology DOID:6898 ovary mixed epithelial carcinoma mixed epithelial carcinoma of Ovary NCI2004_11_17:C9123 NCI:C40090 UMLS_CUI:C1518232 disease_ontology DOID:6899 malignant ovarian mixed epithelial neoplasm disease_ontology DOID:69 hemopoetic tissue disease true pediatric cancer of the Liver pediatric carcinoma of the Liver cell disease_ontology DOID:690 childhood cancer of liver true pediatric cancer of the Liver NCI2004_11_17:C7708 pediatric carcinoma of the Liver cell NCI2004_11_17:C7955 NCI:C36102 UMLS_CUI:C1333992 disease_ontology DOID:6901 familiar ovarian carcinoma A lymphoma by site that is manifested in immune system cells called lymphocytes. NCI:C35690 UMLS_CUI:C1333519 disease_ontology DOID:6903 eye lymphoma A lymphoma by site that is manifested in immune system cells called lymphocytes. url:http://www.cancer.org/docroot/cri/content/cri_2_4_1x_what_is_eye_cancer_74.asp A herpes zoster that is complicated_by AIDS. disease_ontology DOID:6905 AIDS-related herpes zoster true A herpes zoster that is complicated_by AIDS. url:http://www.aidsinfonet.org/fact_sheets/view/509 NCI:C27496 SNOMEDCT_US_2016_03_01:703603008 UMLS_CUI:C1333824 disease_ontology DOID:6906 glomangiomatosis NCI:C6887 SNOMEDCT_US_2016_03_01:128711009 UMLS_CUI:C1266094 Lymphocyte-Predominant Thymoma Thymoma, organoid disease_ontology DOID:6917 predominantly cortical thymoma Lymphocyte-Predominant Thymoma NCI2004_11_17:C6887 Thymoma, organoid SNOMEDCT_2005_07_31:128711009 DOID:6918 Extramucosal (Perianal) adenocarcinoma of anus adenocarcinoma of anus within Anorectal fistula adenocarcinoma of the anus within Anorectal fistula disease_ontology extramucosal (perianal) adenocarcinoma of the anus DOID:6919 extramucosal (perianal) adenocarcinoma true Extramucosal (Perianal) adenocarcinoma of anus NCI2004_11_17:C7474 adenocarcinoma of anus within Anorectal fistula NCI2004_11_17:C7475 disease_ontology DOID:6923 fibrolipomatous hamartoma of peripheral nerve true ICD10CM:G57.3 MESH:D020427 NCI:C27061 SNOMEDCT_US_2016_03_01:34553007 UMLS_CUI:C0270810 Peroneal nerve palsy disease_ontology DOID:6925 peroneal nerve paralysis Peroneal nerve palsy SNOMEDCT_2005_07_31:34553007 ICD10CM:H35.81 ICD9CM:362.83 MESH:D010211 SNOMEDCT_US_2016_03_01:193426002 SNOMEDCT_US_2016_03_01:6141006 UMLS_CUI:C0242420 disease_ontology DOID:6929 retinal edema MESH:D003744 NCI:C34529 SNOMEDCT_US_2016_03_01:196277000 SNOMEDCT_US_2016_03_01:26597004 SNOMEDCT_US_2016_03_01:699382004 SNOMEDCT_US_2016_03_01:699421005 UMLS_CUI:C0011351 Enamel Hypoplasia Enamel hypoplasia Enamel hypoplasia (disorder) disease_ontology DOID:693 dental enamel hypoplasia Enamel Hypoplasia NCI2004_11_17:C34529 Enamel hypoplasia MTHICD9_2006:520.4 Enamel hypoplasia SNOMEDCT_2005_07_31:196277000 Enamel hypoplasia (disorder) SNOMEDCT_2005_07_31:26597004 UMLS_CUI:C0861858 disease_ontology DOID:6931 papillary extrahepatic bile duct adenocarcinoma NCI:C39859 SNOMEDCT_US_2016_03_01:447765004 UMLS_CUI:C1511190 disease_ontology DOID:6932 urinary bladder inverted papilloma DOID:2141 NCI:C3842 NCI:C39858 SNOMEDCT_US_2016_03_01:154620001 SNOMEDCT_US_2016_03_01:189459005 SNOMEDCT_US_2016_03_01:269642004 SNOMEDCT_US_2016_03_01:313414002 SNOMEDCT_US_2016_03_01:45083001 UMLS_CUI:C0235754 UMLS_CUI:C1384678 Urothelial papilloma Urothelial papilloma (morphologic abnormality) bladder papilloma bladder papilloma NOS bladder papilloma NOS (disorder) transitional cell papilloma of bladder urinary bladder Urothelial papilloma disease_ontology DOID:6933 bladder transitional cell papilloma Urothelial papilloma NCI2004_11_17:C3842 Urothelial papilloma (morphologic abnormality) SNOMEDCT_2005_07_31:45083001 bladder papilloma NOS SNOMEDCT_2005_07_31:154620001 SNOMEDCT_2005_07_31:269642004 bladder papilloma NOS (disorder) SNOMEDCT_2005_07_31:313414002 transitional cell papilloma of bladder SNOMEDCT_2005_07_31:189459005 urinary bladder Urothelial papilloma NCI2004_11_17:C39858 NCI:C6173 UMLS_CUI:C1336887 Inverted papilloma of the urethra disease_ontology DOID:6934 urethra inverted papilloma Inverted papilloma of the urethra NCI2004_11_17:C6173 NCI:C6174 UMLS_CUI:C1336874 ureteral Inverted papilloma disease_ontology DOID:6935 ureter inverted papilloma ureteral Inverted papilloma NCI2004_11_17:C6174 NCI:C6160 UMLS_CUI:C1519823 disease_ontology DOID:6936 ureter urothelial papilloma An intraocular retinoblastoma that effects children. NCI:C9047 UMLS_CUI:C1321869 childhood intraocular retinoblastoma disease_ontology DOID:6938 pediatric intraocular retinoblastoma An intraocular retinoblastoma that effects children. url:http://www.answers.com/topic/intraocular-retinoblastoma childhood intraocular retinoblastoma NCI2004_11_17:C9047 NCI:C6253 UMLS_CUI:C1332949 pediatric meningioma of brain disease_ontology DOID:6939 childhood brain meningioma pediatric meningioma of brain NCI2004_11_17:C6253 NCI:C40291 UMLS_CUI:C1520084 disease_ontology DOID:6943 vulvar inverted follicular keratosis NCI:C6375 UMLS_CUI:C1336981 Seborrheic Keratosis of Vulva disease_ontology DOID:6944 vulvar seborrheic keratosis Seborrheic Keratosis of Vulva NCI2004_11_17:C6375 NCI:C9007 SNOMEDCT_US_2016_03_01:15112009 SNOMEDCT_US_2016_03_01:201096007 SNOMEDCT_US_2016_03_01:394728005 UMLS_CUI:C0334019 Inverted Follicular Keratosis Inverted folicular keratosis Inverted follicular keratosis Inverted follicular keratosis (disorder) disease_ontology DOID:6945 inverted follicular keratosis Inverted Follicular Keratosis NCI2004_11_17:C9007 Inverted folicular keratosis SNOMEDCT_2005_07_31:15112009 Inverted follicular keratosis SNOMEDCT_2005_07_31:201096007 Inverted follicular keratosis (disorder) SNOMEDCT_2005_07_31:394728005 NCI:C6792 SNOMEDCT_US_2016_03_01:126679002 UMLS_CUI:C0345676 neoplasm of sphenoidal sinus (disorder) tumor of Sphenoidal sinus disease_ontology DOID:6947 sphenoidal sinus neoplasm neoplasm of sphenoidal sinus (disorder) SNOMEDCT_2005_07_31:126679002 tumor of Sphenoidal sinus NCI2004_11_17:C6792 NCI:C5256 UMLS_CUI:C1334151 malignant teratoma of stomach disease_ontology DOID:6948 malignant gastric teratoma malignant teratoma of stomach NCI2004_11_17:C5256 malignant germ cell tumor of stomach disease_ontology DOID:6949 malignant gastric germ cell tumor true malignant germ cell tumor of stomach NCI2004_11_17:C5486 An acute stress disorder that involves neurotic reactions to unusual, severe, or overwhelming military stress. MESH:D003130 NCI:C34498 UMLS_CUI:C0009426 Combat Neurosis disease_ontology DOID:6950 combat disorder An acute stress disorder that involves neurotic reactions to unusual, severe, or overwhelming military stress. url:http://neurolex.org/wiki/Category:Combat_Disorder Combat Neurosis NCI2004_11_17:C34498 NCI:C3902 SNOMEDCT_US_2016_03_01:78453009 UMLS_CUI:C0259782 Telangiectatic osteosarcoma (morphologic abnormality) disease_ontology DOID:6951 telangiectatic osteogenic sarcoma Telangiectatic osteosarcoma (morphologic abnormality) SNOMEDCT_2005_07_31:78453009 An Epstein-Barr virus infectious disease and is_a lymphoma that derives_from lymphocytes, has_material_basis_in Human herpesvirus 4, which causes a growth activation of the lymphocytes that it infects. EBV Related Lymphoma disease_ontology DOID:6954 Epstein-Barr virus related lymphoma true An Epstein-Barr virus infectious disease and is_a lymphoma that derives_from lymphocytes, has_material_basis_in Human herpesvirus 4, which causes a growth activation of the lymphocytes that it infects. url:http://lymphoma.about.com/od/riskfactors/qt/ebvlymphoma.htm EBV Related Lymphoma NCI2004_11_17:C27691 disease_ontology DOID:6955 intracranial melanoma true disease_ontology DOID:6956 malignant intracranial neoplasm By Morphology true NCI:C5630 UMLS_CUI:C1332232 disease_ontology DOID:6958 aleukemic monocytic leukemia cutis NCI:C5555 UMLS_CUI:C1333074 transitional Zone carcinoma of rectum disease_ontology DOID:6959 rectal cloacogenic carcinoma transitional Zone carcinoma of rectum NCI2004_11_17:C5555 NCI:C40293 UMLS_CUI:C1511052 Bartholin gland squamous cell carcinoma disease_ontology DOID:6961 Bartholin's gland squamous cell carcinoma recurrent Cutaneous carcinoma disease_ontology DOID:6962 recurrent cancer of skin true recurrent Cutaneous carcinoma NCI2004_11_17:C7903 ICD10CM:H04.33 ICD9CM:375.31 SNOMEDCT_US_2016_03_01:84399007 UMLS_CUI:C0339130 acute canaliculitis, lacrimal acute lacrimal canaliculitis disease_ontology DOID:6969 acute canaliculitis acute canaliculitis, lacrimal ICD9CM_2006:375.31 acute lacrimal canaliculitis SNOMEDCT_2005_07_31:84399007 ICD10CM:H04.3 ICD9CM:375.3 SNOMEDCT_US_2016_03_01:193986007 SNOMEDCT_US_2016_03_01:267652006 SNOMEDCT_US_2016_03_01:302900006 UMLS_CUI:C0339129 disease_ontology DOID:6970 acute inflammation of lacrimal passage NCI:C7383 UMLS_CUI:C1518882 disease_ontology urothelial papillary carcinoma of the bladder DOID:6975 bladder urothelial papillary carcinoma NCI:C27202 UMLS_CUI:C1517579 disease_ontology DOID:6976 micropapillary variant infiltrating bladder urothelial carcinoma MESH:D003969 NCI:C3488 SNOMEDCT_US_2016_03_01:237576001 SNOMEDCT_US_2016_03_01:39998009 SNOMEDCT_US_2016_03_01:70091000 UMLS_CUI:C0086768 Excessive vasoactive intestinal peptide secretion Verner-Morrison syndrome pancreatic WDHA syndrome disease_ontology DOID:6977 pancreatic cholera Excessive vasoactive intestinal peptide secretion SNOMEDCT_2005_07_31:237576001 Verner-Morrison syndrome SNOMEDCT_2005_07_31:39998009 pancreatic WDHA syndrome NCI2004_11_17:C3488 MESH:D003807 NCI:C50778 SNOMEDCT_US_2016_03_01:13468005 UMLS_CUI:C0011432 Sensitive dentin disease_ontology DOID:698 dentin sensitivity Sensitive dentin MTHICD9_2006:521.8 relapsed Rectosigmoid cancer disease_ontology DOID:6980 recurrent rectosigmoid cancer true relapsed Rectosigmoid cancer NCI2004_11_17:C8634 Colorectal carcinoma recurrent disease_ontology DOID:6981 recurrent colorectal cancer true Colorectal carcinoma recurrent NCI2004_11_17:C8625 NCI:C27473 UMLS_CUI:C1333306 disease_ontology DOID:6988 peripheral epithelioid sarcoma disease_ontology DOID:6989 non-neoplastic non-molar trophoblastic disorder true A myopathy that is characterized by mitochondrial dysfunction. MESH:D017240 NCI:C101328 OMIM:251900 SNOMEDCT_US_2016_03_01:16851005 SNOMEDCT_US_2016_03_01:240096000 UMLS_CUI:C0162670 mitochondrial cytopathy (disorder) disease_ontology DOID:699 OMIM mapping confirmed by DO. [SN]. mitochondrial myopathy A myopathy that is characterized by mitochondrial dysfunction. url:http://en.wikipedia.org/wiki/Mitochondrial_myopathies url:http://www.ninds.nih.gov/disorders/mitochondrial_myopathy/mitochondrial_myopathy.htm mitochondrial cytopathy (disorder) SNOMEDCT_2005_07_31:240096000 disease_ontology DOID:6990 placental site nodule or plaque true Exaggerated placental site (disorder) Exaggerated placental site (morphologic abnormality) disease_ontology DOID:6991 exaggerated placental site true Exaggerated placental site (disorder) SNOMEDCT_2005_07_31:417150000 Exaggerated placental site (morphologic abnormality) SNOMEDCT_2005_07_31:416635001 NCI:C7989 UMLS_CUI:C0279693 mixed cell type Uveal melanoma disease_ontology DOID:6992 intraocular mixed cell type melanoma mixed cell type Uveal melanoma NCI2004_11_17:C7989 NCI:C6101 UMLS_CUI:C1334210 disease_ontology DOID:6993 iris mixed cell melanoma NCI:C9088 SNOMEDCT_US_2016_03_01:255012009 UMLS_CUI:C0346373 malignant melanoma of iris (disorder) melanoma of the Iris disease_ontology DOID:6994 malignant iris melanoma malignant melanoma of iris (disorder) SNOMEDCT_2005_07_31:255012009 melanoma of the Iris NCI2004_11_17:C9088 metastasis to kidney metastatic neoplasm to the kidney secondary malignant neoplasm of kidney secondary malignant neoplasm of kidney (disorder) disease_ontology DOID:6995 metastasis to the kidney true metastasis to kidney SNOMEDCT_2005_07_31:154569009 metastatic neoplasm to the kidney NCI2004_11_17:C7549 secondary malignant neoplasm of kidney ICD9CM_2006:198.0 secondary malignant neoplasm of kidney (disorder) SNOMEDCT_2005_07_31:94360002 NCI:C6100 UMLS_CUI:C1334208 mixed cell melanoma of Choroid disease_ontology DOID:6996 intermediate cell type choroid melanoma mixed cell melanoma of Choroid NCI2004_11_17:C6100 NCI:C6118 UMLS_CUI:C1334209 disease_ontology DOID:6997 intermediate cell type ciliary body melanoma NCI:C5744 UMLS_CUI:C1333750 Colloidal carcinoma of the gallbladder disease_ontology DOID:6998 gallbladder mucinous carcinoma Colloidal carcinoma of the gallbladder NCI2004_11_17:C5744 recurrent squamous cell carcinoma of the lung disease_ontology recurrent squamous cell carcinoma of lung DOID:6999 lung recurrent squamous cell carcinoma true recurrent squamous cell carcinoma of the lung NCI2004_11_17:C5014 A disease that manifests in a defined anatomical structure. DOID:1 DOID:2 DOID:5 DOID:71 DOID:72 DOID:8 disease_ontology DOID:7 disease of anatomical entity A disease that manifests in a defined anatomical structure. DO:wk,ls URL:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=anatomic disease_ontology DOID:70 lymphoid tissue disease true An inherited metabolic disorder that involves mitochondrial metabolism dysfunction. MESH:D028361 SNOMEDCT_US_2016_03_01:240096000 UMLS_CUI:C0751651 disease_ontology DOID:700 mitochondrial metabolism disease An inherited metabolic disorder that involves mitochondrial metabolism dysfunction. url:http://en.wikipedia.org/wiki/Mitochondrial_disease relapsed large cell carcinoma of the lung disease_ontology DOID:7001 recurrent large cell carcinoma of lung true relapsed large cell carcinoma of the lung NCI2004_11_17:C8753 lung Adenocarcinoma, recurrent disease_ontology DOID:7002 recurrent adenocarcinoma of lung true lung Adenocarcinoma, recurrent NCI2004_11_17:C8757 disease_ontology DOID:7003 malignant vaginal mixed tumor resembling synovial sarcoma true A functioning pituitary adenoma that characterized by excess cortisol a primary cause of Cushing's syndrome. MESH:D049913 NCI:C7462 OMIM:219090 SNOMEDCT_US_2016_03_01:21109002 SNOMEDCT_US_2016_03_01:254958004 UMLS_CUI:C1306214 ACTH-Producing Pituitary Adenoma Corticotroph adenoma Corticotropinoma disease_ontology DOID:7004 OMIM mapping confirmed by DO. [SN]. ACTH-secreting pituitary adenoma A functioning pituitary adenoma that characterized by excess cortisol a primary cause of Cushing's syndrome. url:http://en.wikipedia.org/wiki/Cushing%27s_syndrome Corticotroph adenoma SNOMEDCT_2005_07_31:21109002 Corticotropinoma NCI2004_11_17:C7462 MESH:D001254 NCI:C4321 SNOMEDCT_US_2016_03_01:73982001 UMLS_CUI:C0334581 Gemistocytic Astrocytic tumor Gemistocytic astrocytoma (morphologic abnormality) disease_ontology DOID:7005 gemistocytic astrocytoma Gemistocytic Astrocytic tumor NCI2004_11_17:C4321 Gemistocytic astrocytoma (morphologic abnormality) SNOMEDCT_2005_07_31:73982001 disease_ontology DOID:7006 childhood cerebral diffuse astrocytoma true MESH:D001254 NCI:C4347 UMLS_CUI:C0338070 pediatric astrocytoma of Cerebrum disease_ontology DOID:7007 childhood cerebral astrocytoma pediatric astrocytoma of Cerebrum NCI2004_11_17:C4347 MESH:D001254 NCI:C4320 SNOMEDCT_US_2016_03_01:55094006 UMLS_CUI:C0334580 Protoplasmic Astrocytic tumor Protoplasmic astrocytoma (morphologic abnormality) disease_ontology DOID:7008 protoplasmic astrocytoma Protoplasmic Astrocytic tumor NCI2004_11_17:C4320 Protoplasmic astrocytoma (morphologic abnormality) SNOMEDCT_2005_07_31:55094006 disease_ontology DOID:7009 adult diffuse astrocytoma true A teeth hard tissue disease characterized by presence of normal enamel but atypical dentin with abnormal pulpal morphology. ICD10CM:K00.5 MESH:D003805 OMIM:125400 OMIM:125420 ORDO:1635 SNOMEDCT_US_2016_03_01:109492001 SNOMEDCT_US_2016_03_01:45742009 UMLS_CUI:C0011430 Dentinal dysplasia disease_ontology DOID:701 Xref MGI. OMIM mapping confirmed by DO. [SN]. dentin dysplasia A teeth hard tissue disease characterized by presence of normal enamel but atypical dentin with abnormal pulpal morphology. url:http://en.wikipedia.org/wiki/Dentin_dysplasia Dentinal dysplasia SNOMEDCT_2005_07_31:45742009 relapsed cancer of the Thyroid disease_ontology DOID:7011 recurrent thyroid carcinoma true relapsed cancer of the Thyroid NCI2004_11_17:C7908 anaplastic thyroid carcinoma (disorder) sarcomatoid Thyroid carcinoma disease_ontology DOID:7012 anaplastic thyroid carcinoma true anaplastic thyroid carcinoma (disorder) SNOMEDCT_2005_07_31:255031003 sarcomatoid Thyroid carcinoma NCI2004_11_17:C3878 NCI:C40041 UMLS_CUI:C1518725 disease_ontology DOID:7013 ovarian mucinous cystadenofibroma NCI:C7450 NCI:C7451 SNOMEDCT_US_2016_03_01:24045002 UMLS_CUI:C0334473 Intramuscular Lipoma Intramuscular lipoma (morphologic abnormality) disease_ontology DOID:7014 infiltrating lipoma Intramuscular Lipoma NCI2004_11_17:C7450 Intramuscular lipoma (morphologic abnormality) SNOMEDCT_2005_07_31:24045002 Deep Fatty tumor disease_ontology DOID:7015 deep fatty neoplasm true Deep Fatty tumor NCI2004_11_17:C6498 NCI:C6499 UMLS_CUI:C1336703 Lipoma of the Tendon Sheath disease_ontology DOID:7016 tendon sheath lipoma Lipoma of the Tendon Sheath NCI2004_11_17:C6499 NCI:C6500 UMLS_CUI:C1334438 disease_ontology DOID:7017 lumbosacral lipoma metastatic tumor to the adult brain disease_ontology DOID:7018 secondary malignant neoplasm to the adult brain true metastatic tumor to the adult brain NCI2004_11_17:C5816 Congenital anomaly of teeth (disorder) congenital dentition disorder disease_ontology DOID:702 tooth abnormality true Congenital anomaly of teeth (disorder) SNOMEDCT_2005_07_31:79723009 congenital dentition disorder CSP2005:0723-8720 disease_ontology DOID:7023 borderline ovarian serous neoplasm with microinvasion true NCI:C41618 UMLS_CUI:C1513718 disease_ontology DOID:7024 mucinous intrahepatic cholangiocarcinoma disease_ontology DOID:7025 anaplastic malignant intracranial meningioma true WHO grade III meningioma adult anaplastic (malignant) meningioma disease_ontology DOID:7026 adult malignant meningioma true WHO grade III meningioma NCI2004_11_17:C38938 adult anaplastic (malignant) meningioma NCI2004_11_17:C8275 disease_ontology DOID:7029 site specific early onset breast cancer syndrome true NCI:C5664 UMLS_CUI:C1332640 adenoma of the Bronchial Mucus gland disease_ontology adenoma of bronchial mucus gland DOID:7030 bronchial mucus gland adenoma adenoma of the Bronchial Mucus gland NCI2004_11_17:C5664 NCI:C8186 UMLS_CUI:C0280325 Epidermoid carcinoma of the Glottis disease_ontology squamous cell carcinoma of glottis DOID:7031 glottis squamous cell carcinoma Epidermoid carcinoma of the Glottis NCI2004_11_17:C8186 NCI:C5775 UMLS_CUI:C0861855 bile duct clear cell carcinoma disease_ontology DOID:7032 bile duct clear cell adenocarcinoma bile duct clear cell carcinoma NCI2004_11_17:C5775 A parasitic helminthiasis infectious disease that results_in infection located_in intestinal mucosa with larvae of the nematodes transmitted_by ingestion of raw or poorly cooked saltwater fish, has_material_basis_in Anisakis simplex or has_material_basis_in Pseudoterranova decipiens and has_symptom abdominal pain, has_symptom nausea and vomiting. Invasive anisakiasis results in the infection of omentum, pancreas, liver, and lung. ICD10CM:B81.0 ICD9CM:127.1 MESH:D017129 SNOMEDCT_US_2016_03_01:187173002 SNOMEDCT_US_2016_03_01:32183007 UMLS_CUI:C0162576 Infection by Anisakis larva disease_ontology DOID:7033 anisakiasis A parasitic helminthiasis infectious disease that results_in infection located_in intestinal mucosa with larvae of the nematodes transmitted_by ingestion of raw or poorly cooked saltwater fish, has_material_basis_in Anisakis simplex or has_material_basis_in Pseudoterranova decipiens and has_symptom abdominal pain, has_symptom nausea and vomiting. Invasive anisakiasis results in the infection of omentum, pancreas, liver, and lung. url:http://www.dpd.cdc.gov/DPDx/HTML/Anisakiasis.htm url:http://www.merck.com/mmpe/sec14/ch182/ch182c.html?qt=Anisakiasis&alt=sh url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC358121/pdf/cmr00053-0060.pdf Infection by Anisakis larva MTHICD9_2006:127.1 NCI:C6547 UMLS_CUI:C1332990 pediatric Immature teratoma of Ovary disease_ontology DOID:7037 childhood immature teratoma of ovary pediatric Immature teratoma of Ovary NCI2004_11_17:C6547 NCI:C4110 SNOMEDCT_US_2016_03_01:274897005 SNOMEDCT_US_2016_03_01:403886007 UMLS_CUI:C0334260 Bowen's disease, clonal (disorder) Intraepidermal Epithelioma of Jadassohn disease_ontology DOID:7039 Borst-Jadassohn intraepidermal carcinoma Bowen's disease, clonal (disorder) SNOMEDCT_2005_07_31:403886007 Intraepidermal Epithelioma of Jadassohn NCI2004_11_17:C4110 NCI:C35780 UMLS_CUI:C1333422 disease_ontology DOID:7040 uveal epithelioid cell melanoma NCI:C6102 UMLS_CUI:C1333024 Choroidal epithelioid cell melanoma disease_ontology DOID:7041 choroid epithelioid cell melanoma Choroidal epithelioid cell melanoma NCI2004_11_17:C6102 NCI:C6119 UMLS_CUI:C1333050 disease_ontology DOID:7042 ciliary body epithelioid cell melanoma metastatic Vulvar carcinoma disease_ontology DOID:7043 metastatic vulvar cancer true metastatic Vulvar carcinoma NCI2004_11_17:C27247 NCI:C7266 UMLS_CUI:C1332463 disease_ontology DOID:7045 basaloid lung carcinoma NCI:C40189 UMLS_CUI:C1511063 disease_ontology DOID:7046 cervical basaloid squamous cell carcinoma NCI:C6980 UMLS_CUI:C1332462 squamous cell carcinoma of penis, Basaloid type disease_ontology DOID:7047 penis basaloid carcinoma squamous cell carcinoma of penis, Basaloid type NCI2004_11_17:C6980 NCI:C40286 vulvar basaloid carcinoma disease_ontology DOID:7048 vulvar basaloid squamous cell carcinoma NCI:C27543 UMLS_CUI:C1335973 skin Basaloid squamous cell carcinoma disease_ontology DOID:7049 basaloid squamous cell skin carcinoma skin Basaloid squamous cell carcinoma NCI2004_11_17:C27543 ICD10CM:H47.22 MESH:D029242 NCI:C84808 OMIM:535000 SNOMEDCT_US_2016_03_01:194045006 SNOMEDCT_US_2016_03_01:230510002 SNOMEDCT_US_2016_03_01:58610003 UMLS_CUI:C0917796 Leber's hereditary optic neuropathy Leber's optic atrophy Leber's optic atrophy (disorder) disease_ontology DOID:705 OMIM mapping confirmed by DO. [SN]. Leber hereditary optic neuropathy Leber's hereditary optic neuropathy CSP2005:2042-6601 Leber's hereditary optic neuropathy CSP2005:5000-0048 Leber's hereditary optic neuropathy SNOMEDCT_2005_07_31:230510002 Leber's optic atrophy SNOMEDCT_2005_07_31:194045006 Leber's optic atrophy (disorder) SNOMEDCT_2005_07_31:58610003 NCI:C6456 UMLS_CUI:C1332464 Basaloid carcinoma of the Thymus disease_ontology DOID:7050 thymus basaloid carcinoma Basaloid carcinoma of the Thymus NCI2004_11_17:C6456 NCI:C7032 UMLS_CUI:C1333443 Basaloid squamous carcinoma of esophagus disease_ontology DOID:7051 esophageal basaloid squamous cell carcinoma Basaloid squamous carcinoma of esophagus NCI2004_11_17:C7032 Undifferentiated small cell carcinoma of the Thyroid gland disease_ontology DOID:7053 anaplastic small cell thyroid carcinoma true Undifferentiated small cell carcinoma of the Thyroid gland NCI2004_11_17:C7907 NCI:C5279 UMLS_CUI:C1334829 disease_ontology DOID:7054 multiple skull base meningioma EFO:0000096 NCI:C27910 UMLS_CUI:C1334633 mature B-cell lymphocytic neoplasm disease_ontology DOID:706 mature B-cell neoplasm NCI:C8936 UMLS_CUI:C0862030 disease_ontology DOID:7061 precursor B lymphoblastic lymphoma/leukemia A non-Hodgkin lymphoma that has_material_basis_in B cells. MESH:D016393 NCI:C27907 NCI:C3457 SNOMEDCT_US_2016_03_01:109979007 SNOMEDCT_US_2016_03_01:1929004 SNOMEDCT_US_2016_03_01:413616009 UMLS_CUI:C0079731 B-cell lymphocytic neoplasm disease_ontology DOID:707 B-cell lymphoma A non-Hodgkin lymphoma that has_material_basis_in B cells. url:http://en.wikipedia.org/wiki/B-cell_lymphoma relapsed pediatric Rhabdomyosarcoma disease_ontology DOID:7070 recurrent pediatric rhabdomyosarcoma true relapsed pediatric Rhabdomyosarcoma NCI2004_11_17:C7815 NCI:C6808 UMLS_CUI:C1333278 Spinal Cord Dermoid disease_ontology DOID:7071 spinal cord dermoid cyst Spinal Cord Dermoid NCI2004_11_17:C6808 Choroidal hemorrhage and rupture (disorder) Choroidal hemorrhage or rupture NOS (disorder) disease_ontology DOID:7074 choroidal hemorrhage and rupture true Choroidal hemorrhage and rupture (disorder) SNOMEDCT_2005_07_31:193474002 Choroidal hemorrhage or rupture NOS (disorder) SNOMEDCT_2005_07_31:193476000 disease_ontology DOID:7075 atypical vulvar nevus true NCI:C40365 UMLS_CUI:C1517894 disease_ontology DOID:7076 lipid-rich breast carcinoma NCI:C6630 UMLS_CUI:C1334600 mediastinal melanocytic MPNST disease_ontology DOID:7077 malignant melanocytic peripheral nerve sheath tumor of mediastinum mediastinal melanocytic MPNST NCI2004_11_17:C6630 MPNST of mediastinum disease_ontology DOID:7078 malignant mediastinal peripheral nerve sheath tumor true MPNST of mediastinum NCI2004_11_17:C6626 NCI:C9012 SNOMEDCT_US_2016_03_01:42717009 UMLS_CUI:C1368888 disease_ontology DOID:7079 adult cystic teratoma DOID:7080 NCI:C9423 UMLS_CUI:C1334788 combined small and large cell lung cancer small cell and large cell carcinoma of the lung small cell and squamous cell carcinoma of the lung disease_ontology mixed small cell and squamous cell carcinoma of lung DOID:7081 lung mixed small cell and squamous cell carcinoma small cell and large cell carcinoma of the lung NCI2004_11_17:C9424 small cell and squamous cell carcinoma of the lung NCI2004_11_17:C9423 disease_ontology DOID:7083 recurrent adult primary hepatoma true relapsed adult Liver cancer disease_ontology DOID:7084 recurrent adult primary liver cancer true relapsed adult Liver cancer NCI2004_11_17:C7880 NCI:C37304 UMLS_CUI:C1334817 disease_ontology DOID:7086 multicentric papillary thyroid carcinoma NCI:C35830 UMLS_CUI:C1333120 disease_ontology DOID:7088 columnar cell variant papillary carcinoma NCI:C35558 UMLS_CUI:C1336695 disease_ontology DOID:7089 tall cell variant papillary carcinoma DOID:10265 NCI:C7301 SNOMEDCT_US_2016_03_01:93151007 UMLS_CUI:C0153832 UMLS_CUI:C1336064 hairy cell leukemia of spleen disease_ontology DOID:709 splenic manifestation of hairy cell leukemia NCI:C8095 UMLS_CUI:C0279989 disease_ontology DOID:7095 pediatric epithelioid sarcoma NCI:C39924 UMLS_CUI:C1515307 disease_ontology DOID:7097 macrocystic pattern testicular yolk sac tumor disease_ontology DOID:7099 ovarian dermoid cyst with squamous cell carcinoma true A leukemia that is located_in the spleen. It results_in an enlargement of the leukemia. NCI:C7296 UMLS_CUI:C1336065 disease_ontology splenic leukemia DOID:710 splenic manifestation of leukemia A leukemia that is located_in the spleen. It results_in an enlargement of the leukemia. url:http://www.medilexicon.com/medicaldictionary.php?t=49026 NCI:C5283 UMLS_CUI:C1333283 meningioma of Diaphragm Sellae disease_ontology DOID:7103 diaphragma sellae meningioma meningioma of Diaphragm Sellae NCI2004_11_17:C5283 NCI:C4933 SNOMEDCT_US_2016_03_01:126699008 UMLS_CUI:C1290353 Epiglottic tumor neoplasm of epiglottis (disorder) disease_ontology DOID:7105 epiglottis neoplasm Epiglottic tumor NCI2004_11_17:C4933 neoplasm of epiglottis (disorder) SNOMEDCT_2005_07_31:126699008 A refractory hematologic cancer that is a mature B cell cancer that does not yield readily to treatment. NCI:C8030 UMLS_CUI:C0279780 Refractory Hairy cell Leukemia disease_ontology DOID:711 refractory hairy cell leukemia A refractory hematologic cancer that is a mature B cell cancer that does not yield readily to treatment. url:http://en.wikipedia.org/wiki/Hairy_cell_leukemia url:http://www.medterms.com/script/main/art.asp?articlekey=5274 Refractory Hairy cell Leukemia NCI2004_11_17:C8030 A hematologic cancer that is located_in the blood or bone marrow that doesn't respond to treatment. NCI:C27357 UMLS_CUI:C1335724 disease_ontology DOID:712 refractory hematologic cancer A hematologic cancer that is located_in the blood or bone marrow that doesn't respond to treatment. url:http://www.cancer.gov/dictionary/?CdrID=45708 url:http://www.cancer.gov/templates/db_alpha.aspx?CdrID=45863 ICD10CM:N30.4 ICD9CM:595.82 NCI:C123174 SNOMEDCT_US_2016_03_01:11251000 UMLS_CUI:C0156270 Irradiation cystitis disease_ontology DOID:7127 radiation cystitis Irradiation cystitis ICD9CM_2006:595.82 NCI:C7401 SNOMEDCT_US_2016_03_01:277568007 SNOMEDCT_US_2016_03_01:54087003 UMLS_CUI:C0349633 Hairy cell leukaemia variant Hairy cell leukemia variant (disorder) disease_ontology DOID:713 HCL-V Hairy cell leukaemia variant SNOMEDCT_2005_07_31:54087003 Hairy cell leukemia variant (disorder) SNOMEDCT_2005_07_31:277568007 NCI:C9461 UMLS_CUI:C1332564 small cell/neuroendocrine carcinoma of urinary bladder disease_ontology small cell neuroendocrine carcinoma of the urinary bladder DOID:7132 urinary bladder small cell neuroendocrine carcinoma small cell/neuroendocrine carcinoma of urinary bladder NCI2004_11_17:C9461 NCI:C6763 UMLS_CUI:C1333759 Oat cell carcinoma of the gallbladder disease_ontology DOID:7133 gallbladder small cell carcinoma Oat cell carcinoma of the gallbladder NCI2004_11_17:C6763 NCI:C6762 UMLS_CUI:C1112474 Oat cell carcinoma of esophagus disease_ontology DOID:7134 esophagus small cell carcinoma Oat cell carcinoma of esophagus NCI2004_11_17:C6762 NCI:C6655 UMLS_CUI:C1332250 ampullary small cell carcinoma disease_ontology DOID:7136 ampulla of Vater small cell carcinoma ICD9CM:595.81 NCI:C96230 SNOMEDCT_US_2016_03_01:13285005 UMLS_CUI:C0152262 disease_ontology DOID:7138 cystitis cystica NCI:C40155 UMLS_CUI:C1516858 disease_ontology DOID:7139 endometrial small cell carcinoma NCI:C40298 UMLS_CUI:C1511051 Bartholin gland small cell carcinoma disease_ontology DOID:7140 Bartholin's gland small cell carcinoma NCI:C6766 SNOMEDCT_US_2016_03_01:396198006 UMLS_CUI:C1300585 prostate Oat cell carcinoma small cell carcinoma of prostate (disorder) disease_ontology DOID:7141 prostate small cell carcinoma prostate Oat cell carcinoma NCI2004_11_17:C6766 small cell carcinoma of prostate (disorder) SNOMEDCT_2005_07_31:396198006 NCI:C6460 UMLS_CUI:C1335980 small cell carcinoma of the Thymus disease_ontology DOID:7142 thymus small cell carcinoma small cell carcinoma of the Thymus NCI2004_11_17:C6460 NCI:C6025 UMLS_CUI:C1334378 small cell carcinoma of Larynx disease_ontology DOID:7144 laryngeal small cell carcinoma small cell carcinoma of Larynx NCI2004_11_17:C6025 Papillary cystic neoplasm Papillary cystic tumour solid pseudopapillary tumour disease_ontology DOID:7145 papillary cystic tumor true Papillary cystic neoplasm NCI2004_11_17:C4179 Papillary cystic tumour SNOMEDCT_2005_07_31:189696009 solid pseudopapillary tumour SNOMEDCT_2005_07_31:27078002 A histiocytic and dendritic cell cancer that derives_from the lymph nodes, derives_from the skin, derives_from the liver, derives_from the spleen and derives_from bones. ICD10CM:C96.4 MESH:D054752 NCI:C6921 SNOMEDCT_US_2016_03_01:128814006 UMLS_CUI:C1260327 disease_ontology DOID:7146 Langerhans cell sarcoma A histiocytic and dendritic cell cancer that derives_from the lymph nodes, derives_from the skin, derives_from the liver, derives_from the spleen and derives_from bones. url:http://en.wikipedia.org/wiki/Langerhans_cell_sarcoma url:http://www.wrongdiagnosis.com/l/langerhans_cell_sarcoma/intro.htm A bone inflammation disease that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage. EFO:0003898 ICD10CM:M45 ICD9CM:720.0 MESH:D013167 NCI:C84564 ORDO:825 SNOMEDCT_US_2016_03_01:156619005 SNOMEDCT_US_2016_03_01:9631008 UMLS_CUI:C0038013 Bekhterev syndrome Bekhterev's disease Marie-Strumpell disease disease_ontology DOID:7147 ankylosing spondylitis A bone inflammation disease that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage. ls:IEDB url:http://en.wikipedia.org/wiki/Ankylosing_spondylitis url:http://www.mayoclinic.com/health/ankylosing-spondylitis/DS00483 url:http://www.nlm.nih.gov/medlineplus/ency/article/000420.htm url:http://www.spondylitis.org/about/as.aspx An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint. EFO:0000685 ICD10CM:M06.9 ICD9CM:714.0 KEGG:05323 MESH:D001172 NCI:C27206 NCI:C2884 OMIM:180300 SNOMEDCT_US_2016_03_01:156471009 SNOMEDCT_US_2016_03_01:156481008 SNOMEDCT_US_2016_03_01:287010008 SNOMEDCT_US_2016_03_01:69896004 UMLS_CUI:C0003873 Arthritis or polyarthritis, rheumatic atrophic Arthritis disease_ontology DOID:7148 OMIM mapping confirmed by DO. [SN]. rheumatoid arthritis An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint. url:http://en.wikipedia.org/wiki/Rheumatoid_arthritis url:http://www.arthritis.org/disease-center.php?disease_id=31 url:http://www.mayoclinic.org/diseases-conditions/rheumatoid-arthritis/home/ovc-20197388 url:http://www.medicinenet.com/rheumatoid_arthritis/article.htm url:http://www.nlm.nih.gov/medlineplus/ency/article/000431.htm url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=rheumatoid%20arthritis Arthritis or polyarthritis, rheumatic MTHICD9_2006:714.0 atrophic Arthritis NCI2004_11_17:C27206 metastatic Parathyroid carcinoma disease_ontology DOID:7149 metastatic parathyroid cancer true metastatic Parathyroid carcinoma NCI2004_11_17:C9044 MESH:D015458 UMLS_CUI:C0023492 disease_ontology DOID:715 T-cell leukemia recurrent Parathyroid carcinoma disease_ontology DOID:7150 recurrent parathyroid cancer true recurrent Parathyroid carcinoma NCI2004_11_17:C7828 A stromal sarcoma and sarcoma of prostate and tumor of specialized prostatic stroma that is located_in the prostate. NCI:C5524 UMLS_CUI:C1335521 Stromal sarcoma of the prostate disease_ontology DOID:7152 prostate stromal sarcoma A stromal sarcoma and sarcoma of prostate and tumor of specialized prostatic stroma that is located_in the prostate. url:http://www.gfmer.ch/selected_images_v2/detail_list.php?cat1=13&cat3=1021&stype=d Stromal sarcoma of the prostate NCI2004_11_17:C5524 Oligodendroglioma, anaplastic (morphologic abnormality) Undifferentiated Oligodendroglioma disease_ontology DOID:7154 anaplastic oligodendroglioma true Oligodendroglioma, anaplastic (morphologic abnormality) SNOMEDCT_2005_07_31:3102004 Undifferentiated Oligodendroglioma NCI2004_11_17:C4326 disease_ontology DOID:7155 adult undifferentiated oligodendroglioma true Undifferentiated pediatric Oligodendroglioma disease_ontology DOID:7156 anaplastic childhood oligodendroglioma true Undifferentiated pediatric Oligodendroglioma NCI2004_11_17:C5447 squamous cell carcinoma metastatic to the neck with Occult primary disease_ontology DOID:7157 metastatic squamous neck cancer with occult primary true squamous cell carcinoma metastatic to the neck with Occult primary NCI2004_11_17:C7713 relapsed metastatic Epidermoid carcinoma to the neck with Occult primary disease_ontology DOID:7158 recurrent metastatic squamous cell cancer to the neck with occult primary true relapsed metastatic Epidermoid carcinoma to the neck with Occult primary NCI2004_11_17:C9117 A viral infectious disease that affects CD8 lymphocytes, has_material_basis_in Human T-lymphotropic virus 2, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The person infected with HTLV-2 develop neurologic diseases resembling tropical spastic paraparesis. HTLV-II infectious disease disease_ontology DOID:716 Human T-lymphotropic virus 2 infectious disease true A viral infectious disease that affects CD8 lymphocytes, has_material_basis_in Human T-lymphotropic virus 2, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The person infected with HTLV-2 develop neurologic diseases resembling tropical spastic paraparesis. url:http://onlinelibrary.wiley.com/doi/10.1002/ana.20126/pdf url:http://www.communitybloodservices.org/pdf/inserts/Abbott%20Prism%20HTLV%20I%20II.pdf NCI:C5552 UMLS_CUI:C1335682 leiomyoma of rectum disease_ontology DOID:7160 rectum leiomyoma leiomyoma of rectum NCI2004_11_17:C5552 relapsed carcinoma of the Larynx disease_ontology DOID:7162 recurrent larynx cancer true relapsed carcinoma of the Larynx NCI2004_11_17:C4034 Mature teratoma of mediastinum disease_ontology DOID:7164 mediastinum mature teratoma true Mature teratoma of mediastinum NCI2004_11_17:C7104 ICD10CM:E06.1 ICD9CM:245.1 MESH:D013968 NCI:C35071 NCI:C35828 SNOMEDCT_US_2016_03_01:154666006 SNOMEDCT_US_2016_03_01:190296009 SNOMEDCT_US_2016_03_01:237530000 SNOMEDCT_US_2016_03_01:237531001 SNOMEDCT_US_2016_03_01:237532008 SNOMEDCT_US_2016_03_01:237533003 SNOMEDCT_US_2016_03_01:38727009 SNOMEDCT_US_2016_03_01:428041004 UMLS_CUI:C0040149 De Quervain's thyroiditis Giant-cell thyroiditis Granulomatous thyroiditis Subacute Granulomatous Thyroiditis Subacute Thyroiditis Subacute thyroiditis (disorder) de Quervain's thyroiditis disease_ontology DOID:7165 subacute thyroiditis De Quervain's thyroiditis SNOMEDCT_2005_07_31:237530000 Giant-cell thyroiditis SNOMEDCT_2005_07_31:237531001 Granulomatous thyroiditis MTHICD9_2006:245.1 Granulomatous thyroiditis SNOMEDCT_2005_07_31:237532008 Subacute Granulomatous Thyroiditis NCI2004_11_17:C35828 Subacute Thyroiditis NCI2004_11_17:C35071 Subacute thyroiditis (disorder) SNOMEDCT_2005_07_31:38727009 de Quervain's thyroiditis SNOMEDCT_2005_07_31:154666006 de Quervain's thyroiditis SNOMEDCT_2005_07_31:190296009 ICD10CM:E06 ICD10CM:E06.9 ICD9CM:245 ICD9CM:245.9 MESH:D013966 NCI:C26894 SNOMEDCT_US_2016_03_01:154664009 SNOMEDCT_US_2016_03_01:154668007 SNOMEDCT_US_2016_03_01:190301009 SNOMEDCT_US_2016_03_01:82119001 UMLS_CUI:C0040147 disease_ontology DOID:7166 Updating to more specific UMLS_CUI from C0029495 to C0040147. thyroiditis NCI:C6699 UMLS_CUI:C1335096 Occult adenocarcinoma of the lung disease_ontology occult adenocarcinoma of lung DOID:7168 lung occult adenocarcinoma Occult adenocarcinoma of the lung NCI2004_11_17:C6699 NCI:C6685 UMLS_CUI:C1335095 Occult large cell carcinoma of the lung disease_ontology DOID:7169 lung occult large cell carcinoma Occult large cell carcinoma of the lung NCI2004_11_17:C6685 disease_ontology DOID:7170 recurrent non-cutaneous melanoma true recurrent malignant melanoma recurrent melanoma of skin disease_ontology DOID:7171 recurrent cutaneous melanoma true recurrent malignant melanoma NCI2004_11_17:C7087 recurrent melanoma of skin NCI2004_11_17:C9097 MESH:C563020 NCI:C8255 SNOMEDCT_US_2016_03_01:84570003 UMLS_CUI:C0334273 Cloacogenic anal carcinoma Cloacogenic carcinoma (morphologic abnormality) disease_ontology DOID:7173 OMIM mapping confirmed by DO. [SN]. cloacogenic carcinoma Cloacogenic anal carcinoma NCI2004_11_17:C8255 Cloacogenic carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:84570003 NCI:C8256 UMLS_CUI:C0280470 anal Basaloid carcinoma disease_ontology basaloid carcinoma of the anus DOID:7174 anus basaloid carcinoma anal Basaloid carcinoma NCI2004_11_17:C8256 NCI:C7470 UMLS_CUI:C1332278 anal Giant (malignant) Condyloma disease_ontology DOID:7175 anal Buschke-Lowenstein tumor anal Giant (malignant) Condyloma NCI2004_11_17:C7470 An anal canal cancer that derives_from epithelial squamous cells. NCI:C7469 UMLS_CUI:C1332262 disease_ontology DOID:7177 anal canal squamous cell carcinoma An anal canal cancer that derives_from epithelial squamous cells. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma NCI:C4148 SNOMEDCT_US_2016_03_01:48619006 UMLS_CUI:C0334312 mixed acidophil-basophil adenoma (morphologic abnormality) disease_ontology DOID:7179 mixed eosinophil-basophil adenoma mixed acidophil-basophil adenoma (morphologic abnormality) SNOMEDCT_2005_07_31:48619006 An autoimmune disease of blood that is characterized by deficient red blood cells caused by auto-antibodies. CSP:0427-1178 ICD9CM:283.0 MESH:D000744 NCI:C34378 OMIM:205700 SNOMEDCT_US_2016_03_01:154803002 SNOMEDCT_US_2016_03_01:191209000 SNOMEDCT_US_2016_03_01:191215000 SNOMEDCT_US_2016_03_01:25121006 SNOMEDCT_US_2016_03_01:413603009 UMLS_CUI:C0002880 Autoimmune haemolytic anaemia Autoimmune hemolytic anemia NOS (disorder) disease_ontology DOID:718 OMIM mapping confirmed by DO. [SN]. autoimmune hemolytic anemia An autoimmune disease of blood that is characterized by deficient red blood cells caused by auto-antibodies. sn:IEDB url:http://en.wikipedia.org/wiki/Autoimmune_hemolytic_anemia Autoimmune haemolytic anaemia SNOMEDCT_2005_07_31:154803002 Autoimmune hemolytic anemia NOS (disorder) SNOMEDCT_2005_07_31:191215000 NCI:C5569 UMLS_CUI:C1332490 benign Schwannoma of the skin disease_ontology DOID:7181 benign dermal neurilemmoma benign Schwannoma of the skin NCI2004_11_17:C5569 metastatic pediatric sarcoma of the soft tissue disease_ontology DOID:7186 metastatic childhood sarcoma of soft tissue true metastatic pediatric sarcoma of the soft tissue NCI2004_11_17:C8066 NCI:C35829 SNOMEDCT_US_2016_03_01:18018005 SNOMEDCT_US_2016_03_01:361126006 UMLS_CUI:C1306804 Subacute lymphocytic thyroiditis Subacute lymphocytic thyroiditis (disorder) disease_ontology DOID:7187 subacute lymphocytic thyroiditis Subacute lymphocytic thyroiditis SNOMEDCT_2005_07_31:18018005 Subacute lymphocytic thyroiditis (disorder) SNOMEDCT_2005_07_31:361126006 An autoimmune disease of endocrine system that involves inflammation located_in thyroid gland caused by the immune system reacting against its own tissues. DOID:0050435 ICD10CM:E06.3 MESH:D013967 NCI:C38766 SNOMEDCT_US_2016_03_01:190297000 SNOMEDCT_US_2016_03_01:21983002 SNOMEDCT_US_2016_03_01:66944004 UMLS_CUI:C0920350 Chronic Lymphocytic Thyroiditis Hashimoto thyroiditis Hashimoto's Disease Hashimoto's syndrome Hashimoto's thyroiditis Lymphocytic Thyroiditis disease_ontology DOID:7188 OMIM mapping confirmed by DO. [SN]. autoimmune thyroiditis An autoimmune disease of endocrine system that involves inflammation located_in thyroid gland caused by the immune system reacting against its own tissues. sn:IEDB Lymphocytic Thyroiditis NCI2004_11_17:C38766 NCI:C40075 UMLS_CUI:C1518713 disease_ontology DOID:7191 ovarian endometrioid cystadenoma NCI:C36260 UMLS_CUI:C1333985 disease_ontology DOID:7192 hereditary conventional renal cell carcinoma NCI:C6239 UMLS_CUI:C1334643 adenoid cystic carcinoma of the maxillary sinus disease_ontology adenoid cystic carcinoma of maxillary sinus DOID:7198 maxillary sinus adenoid cystic carcinoma adenoid cystic carcinoma of the maxillary sinus NCI2004_11_17:C6239 NCI:C35142 SNOMEDCT_US_2016_03_01:300980002 UMLS_CUI:C0085577 ANEMIA NORMOCYTIC Normocytic anemia (disorder) disease_ontology DOID:720 normocytic anemia ANEMIA NORMOCYTIC MTH:NOCODE Normocytic anemia (disorder) SNOMEDCT_2005_07_31:300980002 NCI:C4288 SNOMEDCT_US_2016_03_01:21912003 UMLS_CUI:C0334522 Intermediate Immature teratoma malignant teratoma, intermediate (morphologic abnormality) disease_ontology DOID:7202 intermediate malignant teratoma Intermediate Immature teratoma NCI2004_11_17:C4288 malignant teratoma, intermediate (morphologic abnormality) SNOMEDCT_2005_07_31:21912003 NCI:C9499 UMLS_CUI:C1334691 disease_ontology DOID:7206 melanomatosis NCI:C7267 UMLS_CUI:C1333122 pulmonary Combined large cell neuroendocrine carcinoma disease_ontology combined large cell neuroendocrine carcinoma of lung DOID:7207 lung combined large cell neuroendocrine carcinoma pulmonary Combined large cell neuroendocrine carcinoma NCI2004_11_17:C7267 MESH:D008579 NCI:C4331 SNOMEDCT_US_2016_03_01:38431002 UMLS_CUI:C0334607 Psammomatous meningioma (morphologic abnormality) disease_ontology DOID:7210 psammomatous meningioma Psammomatous meningioma (morphologic abnormality) SNOMEDCT_2005_07_31:38431002 MESH:D008579 NCI:C4330 SNOMEDCT_US_2016_03_01:511008 UMLS_CUI:C0334606 Fibroblastic meningioma fibrous meningioma (morphologic abnormality) disease_ontology DOID:7211 fibrous meningioma Fibroblastic meningioma NCI2004_11_17:C4330 fibrous meningioma (morphologic abnormality) SNOMEDCT_2005_07_31:511008 MESH:D008579 NCI:C4329 SNOMEDCT_US_2016_03_01:68944005 UMLS_CUI:C0334605 Meningotheliomatous meningioma meningothelial meningioma (morphologic abnormality) disease_ontology DOID:7212 meningothelial meningioma Meningotheliomatous meningioma NCI2004_11_17:C4329 meningothelial meningioma (morphologic abnormality) SNOMEDCT_2005_07_31:68944005 MESH:D008579 NCI:C4333 SNOMEDCT_US_2016_03_01:64967004 UMLS_CUI:C0334611 transitional (mixed) meningioma transitional meningioma (morphologic abnormality) disease_ontology DOID:7213 transitional meningioma transitional (mixed) meningioma NCI2004_11_17:C4333 transitional meningioma (morphologic abnormality) SNOMEDCT_2005_07_31:64967004 NCI:C9080 UMLS_CUI:C0278847 Thymoma malignant Noninvasive disease_ontology DOID:7214 noninvasive malignant thymoma Thymoma malignant Noninvasive NCI2004_11_17:C9080 relapsed pediatric Ependymoma disease_ontology DOID:7215 relapsed childhood ependymoma true relapsed pediatric Ependymoma NCI2004_11_17:C8579 miscarriage disease_ontology DOID:722 spontaneous abortion true NCI:C5743 UMLS_CUI:C1333753 Papillary carcinoma of the gallbladder disease_ontology DOID:7221 gallbladder papillary carcinoma Papillary carcinoma of the gallbladder NCI2004_11_17:C5743 Pleomorphic Giant cell adenocarcinoma of the gallbladder disease_ontology DOID:7222 gallbladder pleomorphic giant cell adenocarcinoma Pleomorphic Giant cell adenocarcinoma of the gallbladder NCI2004_11_17:C5838 NCI:C4273 SNOMEDCT_US_2016_03_01:254846003 UMLS_CUI:C0346157 Giant Fibroadenoma Giant fibroadenoma of breast (disorder) disease_ontology DOID:7223 breast giant fibroadenoma Giant Fibroadenoma NCI2004_11_17:C4273 Giant fibroadenoma of breast (disorder) SNOMEDCT_2005_07_31:254846003 ICD10CM:C70.1 ICD9CM:192.3 SNOMEDCT_US_2016_03_01:188320007 SNOMEDCT_US_2016_03_01:363476006 SNOMEDCT_US_2016_03_01:94069006 UMLS_CUI:C0153647 malignant neoplasm of spinal meninges (disorder) malignant neoplasm of spinal meninges NOS (disorder) disease_ontology DOID:7224 spinal meninges cancer malignant neoplasm of spinal meninges (disorder) SNOMEDCT_2005_07_31:363476006 malignant neoplasm of spinal meninges NOS (disorder) SNOMEDCT_2005_07_31:188320007 NCI:C37201 UMLS_CUI:C1333037 CLL/SLL with IGVH SHM disease_ontology DOID:7230 postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma CLL/SLL with IGVH SHM NCI2004_11_17:C37201 NCI:C6208 UMLS_CUI:C1377605 Embryonal carcinoma of pediatric CNS disease_ontology DOID:7231 pediatric CNS embryonal cell carcinoma Embryonal carcinoma of pediatric CNS NCI2004_11_17:C6208 NCI:C7010 UMLS_CUI:C1333377 Embryonal carcinoma of CNS disease_ontology embryonal carcinoma of the central nervous system DOID:7232 central nervous system embryonal carcinoma Embryonal carcinoma of CNS NCI2004_11_17:C7010 NCI:C5790 UMLS_CUI:C1370503 Embryonal carcinoma of the adult central nervous system disease_ontology DOID:7233 adult central nervous system embryonal carcinoma Embryonal carcinoma of the adult central nervous system NCI2004_11_17:C5790 NCI:C5713 UMLS_CUI:C1335308 mucinous Cystadencarcinoma of pancreas disease_ontology DOID:7234 pancreatic colloid cystadenocarcinoma mucinous Cystadencarcinoma of pancreas NCI2004_11_17:C5713 NCI:C41247 UMLS_CUI:C1518872 pancreatic mucinous cystic neoplasm disease_ontology DOID:7235 pancreatic mucinous cystadenoma NCI:C41246 UMLS_CUI:C1518870 disease_ontology DOID:7236 pancreatic invasive mucinous cystadenocarcinoma NCI:C41245 UMLS_CUI:C1518874 disease_ontology DOID:7237 pancreatic non-invasive mucinous cystadenocarcinoma An AIDS-related Kaposi's sarcoma and gastric Kaposi's sarcoma that is located_in the stomach. AIDS-Related Kaposi's sarcoma of stomach disease_ontology DOID:7238 AIDS-related gastric Kaposi's sarcoma true An AIDS-related Kaposi's sarcoma and gastric Kaposi's sarcoma that is located_in the stomach. url:http://jco.ascopubs.org/cgi/content/short/28/16/e250 AIDS-Related Kaposi's sarcoma of stomach NCI2004_11_17:C5624 ICD9CM:625.6 NCI:C35042 SNOMEDCT_US_2016_03_01:156028007 SNOMEDCT_US_2016_03_01:198408003 SNOMEDCT_US_2016_03_01:266668007 SNOMEDCT_US_2016_03_01:60241006 UMLS_CUI:C0038437 Stress incontinence - female female urinary stress incontinence disease_ontology DOID:724 female stress incontinence Stress incontinence - female SNOMEDCT_2005_07_31:266668007 female urinary stress incontinence SNOMEDCT_2005_07_31:60241006 NCI:C40165 UMLS_CUI:C1519852 disease_ontology DOID:7241 uterine corpus apoplectic leiomyoma NCI:C40163 UMLS_CUI:C1519845 disease_ontology DOID:7242 uterine corpus cellular leiomyoma NCI:C39844 UMLS_CUI:C1511207 disease_ontology DOID:7244 bladder urachal urothelial carcinoma disease_ontology DOID:7245 metastatic endometrial adenocarcinoma true NCI:C39885 UMLS_CUI:C1515864 lymphoepithelioma-like variant acinar prostate adenocarcinoma disease_ontology DOID:7246 lymphoepithelioma-like acinar prostate adenocarcinoma malignant neoplasm of cerebral meninges (disorder) malignant neoplasm of cerebral meninges NOS (disorder) disease_ontology DOID:7252 cerebral meninges malignant neoplasm true malignant neoplasm of cerebral meninges (disorder) SNOMEDCT_2005_07_31:363474009 malignant neoplasm of cerebral meninges NOS (disorder) SNOMEDCT_2005_07_31:188316008 Undifferentiated carcinoma of the urethra disease_ontology DOID:7256 anaplastic urethra carcinoma true Undifferentiated carcinoma of the urethra NCI2004_11_17:C6168 Undifferentiated gallbladder carcinoma disease_ontology DOID:7262 gallbladder anaplastic carcinoma true Undifferentiated gallbladder carcinoma NCI2004_11_17:C9167 NCI:C27144 SNOMEDCT_US_2016_03_01:234541006 UMLS_CUI:C0398695 Selective IgD Immunodeficiency Selective immunoglobulin D deficiency (disorder) disease_ontology DOID:7263 selective IgD deficiency disease Selective IgD Immunodeficiency NCI2004_11_17:C27144 Selective immunoglobulin D deficiency (disorder) SNOMEDCT_2005_07_31:234541006 NCI:C40455 UMLS_CUI:C1512418 disease_ontology DOID:7266 familiar fallopian tube carcinoma SNOMEDCT_US_2016_03_01:254630009 UMLS_CUI:C0345959 disease_ontology DOID:7267 lung clear cell carcinoma pulmonary solid adenocarcinoma with Mucin disease_ontology DOID:7268 solid carcinoma of lung with mucus formation true pulmonary solid adenocarcinoma with Mucin NCI2004_11_17:C5651 NCI:C40957 UMLS_CUI:C1515292 disease_ontology DOID:7269 cribriform variant testicular seminoma ICD10CM:N94.3 ICD9CM:625.4 MESH:D011293 SNOMEDCT_US_2016_03_01:123076003 SNOMEDCT_US_2016_03_01:156026006 SNOMEDCT_US_2016_03_01:198407008 SNOMEDCT_US_2016_03_01:82639001 UMLS_CUI:C0376356 disease_ontology DOID:727 premenstrual tension disease_ontology DOID:7273 adrenal gland tuberculosis true ICD10CM:H15.12 ICD9CM:379.02 SNOMEDCT_US_2016_03_01:70558001 UMLS_CUI:C0155352 disease_ontology DOID:728 nodular episcleritis MESH:D005887 NCI:C4675 SNOMEDCT_US_2016_03_01:25511009 SNOMEDCT_US_2016_03_01:360525006 UMLS_CUI:C0376319 Congenital Epulides Congenital Epulis disease_ontology DOID:7280 congenital epulis Congenital Epulis NCI2004_11_17:C4675 disease_ontology DOID:7281 uterine corpus adenocarcinofibroma DOID:6722 NCI:C39863 NCI:C7371 UMLS_CUI:C1335352 UMLS_CUI:C1527427 carcinoma of the paraurethral gland paraurethral gland carcinoma disease_ontology DOID:7284 Skene gland carcinoma carcinoma of the paraurethral gland NCI2004_11_17:C7371 NCI:C27839 UMLS_CUI:C1336907 disease_ontology DOID:7289 secretory uterine corpus endometrioid adenocarcinoma NCI:C8717 UMLS_CUI:C1513711 disease_ontology DOID:7293 mucin-rich endometrial endometrioid adenocarcinoma relapsed pediatric sarcoma of the soft tissue disease_ontology DOID:7295 recurrent childhood soft tissue sarcoma true relapsed pediatric sarcoma of the soft tissue NCI2004_11_17:C8067 Non-metastatic pediatric soft tissue sarcoma disease_ontology DOID:7296 nonmetastatic childhood soft tissue sarcoma true Non-metastatic pediatric soft tissue sarcoma NCI2004_11_17:C8065 NCI:C27376 UMLS_CUI:C1332968 pediatric extraskeletal Osteosarcoma disease_ontology DOID:7297 childhood extraosseous osteosarcoma pediatric extraskeletal Osteosarcoma NCI2004_11_17:C27376 MESH:D014523 NCI:C3428 SNOMEDCT_US_2016_03_01:126883004 UMLS_CUI:C0041971 neoplasm of urethra (disorder) neoplasm. urethra disease_ontology DOID:730 urethral benign neoplasm neoplasm of urethra (disorder) SNOMEDCT_2005_07_31:126883004 neoplasm. urethra NCI2004_11_17:C3428 leiomyosarcoma of the Inferior Vena Cava disease_ontology DOID:7301 inferior vena cava leiomyosarcoma true leiomyosarcoma of the Inferior Vena Cava NCI2004_11_17:C5372 NCI:C39927 UMLS_CUI:C1515303 disease_ontology DOID:7302 endodermal sinus pattern testicular yolk sac tumor disease_ontology DOID:7304 breast carcinoma metastatic to the brain true MESH:D018302 NCI:C4324 SNOMEDCT_US_2016_03_01:48952003 UMLS_CUI:C0334587 Astroblastoma (morphologic abnormality) disease_ontology DOID:7305 astroblastoma Astroblastoma (morphologic abnormality) SNOMEDCT_2005_07_31:48952003 WHO grade III mixed glioma anaplastic oligoastrocytoma anaplastic oligoastrocytoma (morphologic abnormality) disease_ontology DOID:7306 anaplastic oligoastrocytoma true WHO grade III mixed glioma NCI2004_11_17:C6959 anaplastic oligoastrocytoma SNOMEDCT_2005_07_31:22217002 anaplastic oligoastrocytoma (morphologic abnormality) SNOMEDCT_2005_07_31:253072003 An organ system benign neoplasm that is located_in the kidneys, ureteres, bladder or urethra. MESH:D014571 NCI:C3431 SNOMEDCT_US_2016_03_01:126879004 SNOMEDCT_US_2016_03_01:254913005 UMLS_CUI:C0042076 neoplasm of urinary system tumor of the urinary system tumor of urinary tract urinary tract neoplasm disease_ontology DOID:731 urinary system benign neoplasm An organ system benign neoplasm that is located_in the kidneys, ureteres, bladder or urethra. url:http://en.wikipedia.org/wiki/Urinary_system neoplasm of urinary system SNOMEDCT_2005_07_31:126879004 tumor of the urinary system NCI2004_11_17:C3431 tumor of urinary tract SNOMEDCT_2005_07_31:254913005 urinary tract neoplasm CSP2005:2021-0179 NCI:C40391 UMLS_CUI:C1511283 disease_ontology DOID:7312 breast adenomyoepithelial adenosis NCI:C9368 UMLS_CUI:C1336362 stage IVB urinary bladder carcinoma disease_ontology Jewett-Marshall stage D1 bladder cancer Jewett-Marshall stage D2 bladder cancer DOID:7315 Jewett-Marshall bladder cancer stage IVB urinary bladder carcinoma NCI2004_11_17:C9368 hereditary neuropathy disease_ontology DOID:7316 inherited neuropathy true hereditary neuropathy CSP2005:2042-7013 NCI:C27301 SNOMEDCT_US_2016_03_01:60703000 UMLS_CUI:C0270921 disease_ontology DOID:7319 axonal neuropathy A urinary system disease that is located_in the urethra. ICD10CM:N36.9 MESH:D014522 NCI:C26903 SNOMEDCT_US_2016_03_01:197945001 SNOMEDCT_US_2016_03_01:198551002 SNOMEDCT_US_2016_03_01:4985009 UMLS_CUI:C0041969 urethra disease disease_ontology DOID:732 urethral disease A urinary system disease that is located_in the urethra. url:http://www.nlm.nih.gov/medlineplus/urethraldisorders.html urethra disease NCI2004_11_17:C26903 NCI:C40032 UMLS_CUI:C0877572 disease_ontology DOID:7320 ovarian serous cystadenofibroma disease_ontology DOID:7323 primary cerebral lymphoma in immunocompetent host true disease_ontology DOID:7324 hepatitis C virus related hepatocellular carcinoma true disease_ontology DOID:7325 hepatitis B virus related hepatocellular carcinoma true NCI:C27248 UMLS_CUI:C1333162 disease_ontology DOID:7326 cranial pseudosarcomatous fasciitis ICD10CM:M72.4 NCI:C3827 SNOMEDCT_US_2016_03_01:156729009 SNOMEDCT_US_2016_03_01:203057005 SNOMEDCT_US_2016_03_01:268106003 SNOMEDCT_US_2016_03_01:35548007 SNOMEDCT_US_2016_03_01:400138001 SNOMEDCT_US_2016_03_01:47284001 SNOMEDCT_US_2016_03_01:703616008 UMLS_CUI:C0410005 Fasciitis - nodular Pseudosarcomatous Fasciitis Pseudosarcomatous fibromatosis Pseudosarcomatous fibromatosis (disorder) nodular fasciitis nodular fasciitis (disorder) disease_ontology DOID:7327 pseudosarcomatous fibromatosis Fasciitis - nodular SNOMEDCT_2005_07_31:156729009 Fasciitis - nodular SNOMEDCT_2005_07_31:268106003 Pseudosarcomatous Fasciitis NCI2004_11_17:C3827 Pseudosarcomatous fibromatosis SNOMEDCT_2005_07_31:47284001 Pseudosarcomatous fibromatosis (disorder) SNOMEDCT_2005_07_31:203057005 nodular fasciitis MTHICD9_2006:728.79 nodular fasciitis (disorder) SNOMEDCT_2005_07_31:35548007 nodular fasciitis (disorder) SNOMEDCT_2005_07_31:400138001 A malignant melanoma of iris and spindle cell intraocular melanoma that is located_in the iris. NCI:C6098 UMLS_CUI:C1334287 disease_ontology DOID:7328 iris spindle cell melanoma A malignant melanoma of iris and spindle cell intraocular melanoma that is located_in the iris. url:http://www.cancer.gov/cancertopics/pdq/treatment/intraocularmelanoma/HealthProfessional/page5 A gastrointestinal tuberculosis that involves formation of tuberculous ulcers located_in esophagus. The infection has_symptom dysphagia, has_symptom cough, has_symptom chest pain, has_symptom fever and has_symptom weight loss. ICD9CM:017.8 SNOMEDCT_US_2016_03_01:15284007 UMLS_CUI:C0152902 tuberculosis of esophagus disease_ontology DOID:7332 esophageal tuberculosis A gastrointestinal tuberculosis that involves formation of tuberculous ulcers located_in esophagus. The infection has_symptom dysphagia, has_symptom cough, has_symptom chest pain, has_symptom fever and has_symptom weight loss. url:http://www.springerlink.com/content/53763553187824h3/fulltext.pdf NCI:C7415 UMLS_CUI:C1336892 Nephrogenic adenoma of the urinary bladder disease_ontology DOID:7333 nephrogenic adenoma of urinary bladder Nephrogenic adenoma of the urinary bladder NCI2004_11_17:C7415 NCI:C7413 NCI:C97097 SNOMEDCT_US_2016_03_01:78236000 UMLS_CUI:C0334039 disease_ontology DOID:7334 nephrogenic adenoma disease_ontology DOID:7335 extraocular extension of melanoma true An urinary tract cancer that derives_from the tissues of the urethra. DOID:737 ICD10CM:C68.0 ICD9CM:189.3 MESH:D014523 NCI:C7507 NCI:C9106 SNOMEDCT_US_2016_03_01:154544009 SNOMEDCT_US_2016_03_01:363459007 SNOMEDCT_US_2016_03_01:94123008 UMLS_CUI:C0153620 UMLS_CUI:C0700101 malignant tumour of urethra malignant urethral neoplasm urethral Ca disease_ontology cancer of urethra DOID:734 urethra cancer An urinary tract cancer that derives_from the tissues of the urethra. url:http://www.cancer.gov/cancertopics/pdq/treatment/urethral/Patient malignant tumour of urethra SNOMEDCT_2005_07_31:154544009 malignant urethral neoplasm NCI2004_11_17:C7507 urethral Ca SNOMEDCT_2005_07_31:363459007 A dysgerminoma of ovary that occurs in children. NCI:C6550 UMLS_CUI:C1332988 disease_ontology DOID:7340 pediatric ovarian dysgerminoma A dysgerminoma of ovary that occurs in children. url:http://en.wikipedia.org/wiki/Dysgerminoma url:http://www.cancer.gov/dictionary?CdrID=672835 disease_ontology DOID:7344 anaplastic brainstem astrocytoma true Undifferentiated glioma of Brainstem disease_ontology DOID:7345 anaplastic glioma of brain stem true Undifferentiated glioma of Brainstem NCI2004_11_17:C7446 NCI:C40446 UMLS_CUI:C1518743 disease_ontology DOID:7347 ovarian stromal hyperthecosis urethra metastatic malignant neoplasm disease_ontology DOID:735 metastatic neoplasm of urethra true urethra metastatic malignant neoplasm NCI2004_11_17:C27819 NCI:C27802 UMLS_CUI:C1331541 disease_ontology DOID:7350 thymic dysplasia disease_ontology DOID:7351 localized Askin's tumor true Undifferentiated astrocytoma of Diencephalon disease_ontology DOID:7352 diencephalic anaplastic astrocytoma true Undifferentiated astrocytoma of Diencephalon NCI2004_11_17:C5124 NCI:C5556 UMLS_CUI:C1335689 sarcomatoid carcinoma of rectum disease_ontology DOID:7356 rectum sarcomatoid carcinoma sarcomatoid carcinoma of rectum NCI2004_11_17:C5556 Undifferentiated carcinoma of rectum disease_ontology DOID:7357 rectal anaplastic carcinoma true Undifferentiated carcinoma of rectum NCI2004_11_17:C7974 recurrent Rectal carcinoma disease_ontology DOID:7358 recurrent rectal cancer true recurrent Rectal carcinoma NCI2004_11_17:C9238 NCI:C39867 UMLS_CUI:C1518164 disease_ontology DOID:736 male urethral cancer NCI:C39925 UMLS_CUI:C1515312 disease_ontology DOID:7360 solid pattern testicular yolk sac tumor teratoma of the central nervous system with malignant Transformation disease_ontology DOID:7362 teratoma of CNS with malignant transformation true teratoma of the central nervous system with malignant Transformation NCI2004_11_17:C7015 NCI:C40284 disease_ontology DOID:7363 vulvar keratinizing squamous cell carcinoma disease_ontology DOID:7364 organic anxiety disorder true MESH:D000796 NCI:C26867 SNOMEDCT_US_2016_03_01:254791004 SNOMEDCT_US_2016_03_01:399894006 SNOMEDCT_US_2016_03_01:69484003 UMLS_CUI:C0033838 Kimura's disease disease_ontology DOID:7365 Kimura disease Kimura's disease NCI2004_11_17:C26867 A carcinoma of bladder that originates in the epithelial cells (the internal lining) of the bladder wall and is limited to this area. NCI:C27474 SNOMEDCT_US_2016_03_01:425231005 UMLS_CUI:C1336527 Superficial urinary bladder carcinoma disease_ontology DOID:7371 superficial urinary bladder cancer A carcinoma of bladder that originates in the epithelial cells (the internal lining) of the bladder wall and is limited to this area. url:http://www.malecare.com/new_page_91.htm Superficial urinary bladder carcinoma NCI2004_11_17:C27474 NCI:C27343 UMLS_CUI:C0948740 disease_ontology DOID:7378 pituitary hypoplasia An adrenal medulla cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. NCI:C9276 UMLS_CUI:C1334717 disease_ontology DOID:7379 adrenal medulla carcinoma An adrenal medulla cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma NCI:C39866 UMLS_CUI:C1517154 disease_ontology DOID:738 female urethral cancer NCI:C4462 SNOMEDCT_US_2016_03_01:254661000 UMLS_CUI:C0345983 Parakeratotic skin papilloma squamous cell papilloma of skin (disorder) disease_ontology DOID:7380 squamous cell papilloma of skin Parakeratotic skin papilloma NCI2004_11_17:C4462 squamous cell papilloma of skin (disorder) SNOMEDCT_2005_07_31:254661000 NCI:C27779 UMLS_CUI:C1334464 disease_ontology DOID:7381 lymphohistiocytoid mesothelioma disease_ontology DOID:7384 localized resectable adult primary hepatoma true localized Resectable adult Liver carcinoma disease_ontology DOID:7385 localized resectable adult primary liver cancer true localized Resectable adult Liver carcinoma NCI2004_11_17:C7877 NCI:C5374 UMLS_CUI:C1335575 leiomyosarcoma of the pulmonary Vein disease_ontology DOID:7388 pulmonary vein leiomyosarcoma leiomyosarcoma of the pulmonary Vein NCI2004_11_17:C5374 NCI:C5373 UMLS_CUI:C1335572 leiomyosarcoma of the pulmonary artery disease_ontology DOID:7389 pulmonary artery leiomyosarcoma leiomyosarcoma of the pulmonary artery NCI2004_11_17:C5373 metastatic neoplasm to the urethra secondary malignant neoplasm of urethra (disorder) disease_ontology DOID:739 metastasis to the urethra true metastatic neoplasm to the urethra NCI2004_11_17:C7573 secondary malignant neoplasm of urethra (disorder) SNOMEDCT_2005_07_31:94661005 NCI:C6745 UMLS_CUI:C1336531 leiomyosarcoma of the Superior Vena Cava disease_ontology DOID:7390 superior vena cava leiomyosarcoma leiomyosarcoma of the Superior Vena Cava NCI2004_11_17:C6745 malignant tumor of Superior Vena Cava disease_ontology DOID:7391 superior vena cava malignant neoplasm true malignant tumor of Superior Vena Cava NCI2004_11_17:C5379 MESH:D018242 NCI:C4970 UMLS_CUI:C0751675 PNET of Cerebrum disease_ontology DOID:7398 cerebral primitive neuroectodermal tumor PNET of Cerebrum NCI2004_11_17:C4970 An immune system disease that has_material_basis_in hematopoietic cells. ICD10CM:D75.9 ICD9CM:280-289.99 ICD9CM:289.9 MESH:D006402 NCI:C26323 SNOMEDCT_US_2016_03_01:154785002 SNOMEDCT_US_2016_03_01:154842002 SNOMEDCT_US_2016_03_01:191124002 SNOMEDCT_US_2016_03_01:191402006 SNOMEDCT_US_2016_03_01:191446003 SNOMEDCT_US_2016_03_01:267552000 SNOMEDCT_US_2016_03_01:267573000 SNOMEDCT_US_2016_03_01:34093004 UMLS_CUI:C0018939 Blood disease Blood dyscrasia NOS DISEASE OF THE BLOOD AND BLOOD-FORMING ORGANS Hematological disease blood disorder disease of hematopoietic system disease_ontology DOID:74 hematopoietic system disease An immune system disease that has_material_basis_in hematopoietic cells. url:http://en.wikipedia.org/wiki/Hematopathology Blood disease SNOMEDCT_2005_07_31:154785002 Blood dyscrasia NOS MTHICD9_2006:289.9 DISEASE OF THE BLOOD AND BLOOD-FORMING ORGANS ICD9CM_2006:280-289.99 Hematological disease MTH:NOCODE blood disorder CSP2005:0427-3600 MESH:D049932 NCI:C4692 OMIM:251260 SNOMEDCT_US_2016_03_01:234638009 UMLS_CUI:C0398791 Berlin breakage syndrome Microcephaly, normal intelligence and immunodeficiency (disorder) Seemanova syndrome disease_ontology DOID:7400 OMIM mapping confirmed by DO. [SN]. Nijmegen breakage syndrome Microcephaly, normal intelligence and immunodeficiency (disorder) SNOMEDCT_2005_07_31:234638009 Seemanova syndrome CSP2005:5005-0018 NCI:C27447 UMLS_CUI:C3274139 disease_ontology DOID:7401 colonic L-cell glucagon-like peptide producing tumor NCI:C27448 UMLS_CUI:C3274140 disease_ontology DOID:7402 L-cell glucagon-like peptide producing tumor secondary carcinoma to the Cervix Uteri disease_ontology DOID:7407 metastatic carcinoma to the uterine cervix true secondary carcinoma to the Cervix Uteri NCI2004_11_17:C6334 NCI:C40288 UMLS_CUI:C1520086 disease_ontology DOID:7408 vulvar keratoacanthoma-like carcinoma NCI:C40285 UMLS_CUI:C1520092 disease_ontology DOID:7409 vulvar non-keratinizing squamous cell carcinoma disease_ontology DOID:7410 vulvar squamous cell carcinoma with tumor giant cells true NCI:C27288 UMLS_CUI:C1335158 disease_ontology DOID:7411 ovarian endometrioid cystadenofibroma Metaplastic meningioma disease_ontology DOID:7419 metaplastic meningioma true Metaplastic meningioma NCI2004_11_17:C6907 Placental infarct Placental infarct (disorder) Placental infarction disease_ontology DOID:7420 placental infarction true Placental infarct SNOMEDCT_2005_07_31:169956001 Placental infarct SNOMEDCT_2005_07_31:199621006 Placental infarct SNOMEDCT_2005_07_31:199628000 Placental infarct (disorder) SNOMEDCT_2005_07_31:268585006 Placental infarction NCI2004_11_17:C27181 disease_ontology DOID:7423 ovarian mucinous cystic tumor with mural nodules true An anthrax disease that results_in infection located_in skin, has_material_basis_in Bacillus anthracis, which is transmitted_by contact with infected animals or animal products. The infection has_symptom skin lesion that eventually forms an ulcer with a black center. ICD10CM:A22.0 ICD9CM:022.0 MESH:C531621 SNOMEDCT_US_2016_03_01:84980006 UMLS_CUI:C0003177 disease_ontology DOID:7426 cutaneous anthrax An anthrax disease that results_in infection located_in skin, has_material_basis_in Bacillus anthracis, which is transmitted_by contact with infected animals or animal products. The infection has_symptom skin lesion that eventually forms an ulcer with a black center. url:http://emedicine.medscape.com/article/212127-overview#a0104 url:http://en.wikipedia.org/wiki/Cutaneous_anthrax#Cutaneous A primary bacterial infectious disease that results_in infection located_in skin, located_in lung lymph nodes or located_in gastrointestinal tract, has_material_basis_in Bacillus anthracis, transmitted_by contact with infected animals or animal products, transmitted_by airborne spores or transmitted_by ingestion of undercooked meat from infected animals and has_symptom skin ulcer, has_symptom nausea, has_symptom poor appetite, has_symptom bloody diarrhea, has_symptom fever or has_symptom shortness of breath. ICD10CM:A22 ICD10CM:A22.9 ICD9CM:022 ICD9CM:022.9 MESH:D000881 NCI:C84565 SNOMEDCT_US_2016_03_01:154295005 SNOMEDCT_US_2016_03_01:17540007 SNOMEDCT_US_2016_03_01:186304006 SNOMEDCT_US_2016_03_01:187302001 SNOMEDCT_US_2016_03_01:409498004 UMLS_CUI:C0003175 disease_ontology DOID:7427 anthrax disease A primary bacterial infectious disease that results_in infection located_in skin, located_in lung lymph nodes or located_in gastrointestinal tract, has_material_basis_in Bacillus anthracis, transmitted_by contact with infected animals or animal products, transmitted_by airborne spores or transmitted_by ingestion of undercooked meat from infected animals and has_symptom skin ulcer, has_symptom nausea, has_symptom poor appetite, has_symptom bloody diarrhea, has_symptom fever or has_symptom shortness of breath. url:http://www.bt.cdc.gov/agent/anthrax/needtoknow.asp NCI:C8712 UMLS_CUI:C0854912 disease_ontology DOID:7428 pineal region germinoma NCI:C6207 UMLS_CUI:C1332948 germinoma of the pediatric brain disease_ontology DOID:7429 childhood brain germinoma germinoma of the pediatric brain NCI2004_11_17:C6207 An urticaria induced by stroking of the skin. ICD10CM:L50.3 ICD9CM:708.3 NCI:C111885 OMIM:125635 SNOMEDCT_US_2016_03_01:123093003 SNOMEDCT_US_2016_03_01:156430003 SNOMEDCT_US_2016_03_01:201263000 SNOMEDCT_US_2016_03_01:201265007 SNOMEDCT_US_2016_03_01:238685008 SNOMEDCT_US_2016_03_01:247473009 SNOMEDCT_US_2016_03_01:270885004 SNOMEDCT_US_2016_03_01:402410006 SNOMEDCT_US_2016_03_01:402601007 SNOMEDCT_US_2016_03_01:7632005 UMLS_CUI:C0343065 dermatographic urticaria dermographism disease_ontology DOID:743 dermatographia An urticaria induced by stroking of the skin. url:http://en.wikipedia.org/wiki/Dermatographic_urticaria url:www.dermnetnz.org/reactions/urticaria.html dermatographic urticaria ICD9CM_2006:708.3 dermographism SNOMEDCT_2005_07_31:156430003 NCI:C5795 UMLS_CUI:C1377598 germ cell neoplasm of the pediatric brain disease_ontology DOID:7430 childhood germ cell brain tumor germ cell neoplasm of the pediatric brain NCI2004_11_17:C5795 NCI:C39930 UMLS_CUI:C1515311 disease_ontology DOID:7435 polyvesicular vitelline pattern testicular yolk sac tumor NCI:C27850 UMLS_CUI:C1336913 disease_ontology DOID:7436 sarcomatoid uterine corpus endometrioid adenocarcinoma NCI:C40180 UMLS_CUI:C1519862 uterine corpus PEComa disease_ontology DOID:7437 uterus perivascular epithelioid cell tumor NCI:C7980 UMLS_CUI:C0279667 disease_ontology DOID:7438 ovarian clear cell cystadenocarcinoma ICD10CM:H74.4 NCI:C6933 SNOMEDCT_US_2016_03_01:155244001 SNOMEDCT_US_2016_03_01:267766007 SNOMEDCT_US_2016_03_01:73103007 UMLS_CUI:C0271466 polyp - middle ear polyp of the middle ear disease_ontology DOID:7439 polyp of middle ear polyp - middle ear SNOMEDCT_2005_07_31:155244001 polyp of the middle ear NCI2004_11_17:C6933 disease_ontology DOID:744 Muscle calcification and ossification true NCI:C35602 UMLS_CUI:C1333042 disease_ontology DOID:7441 chronic metabolic polyneuropathy MGUS Monoclonal gammopathy of uncertain significance (disorder) Monoclonal gammopathy of undetermined significance (morphologic abnormality) disease_ontology DOID:7442 monoclonal gammopathy of uncertain significance MGUS NCI2004_11_17:C3996 Monoclonal gammopathy of uncertain significance (disorder) SNOMEDCT_2005_07_31:277577000 Monoclonal gammopathy of undetermined significance (morphologic abnormality) SNOMEDCT_2005_07_31:35601003 NCI:C7364 SNOMEDCT_US_2016_03_01:32296002 UMLS_CUI:C1377912 Diffuse intraductal papillomatosis disease_ontology DOID:7444 diffuse intraductal papillomatosis Diffuse intraductal papillomatosis SNOMEDCT_2005_07_31:32296002 NCI:C6382 SNOMEDCT_US_2016_03_01:449052009 UMLS_CUI:C1333415 benign Epididymal epithelial Mesothelioma disease_ontology adenomatoid neoplasm of the epididymis DOID:745 epididymis adenomatoid tumor benign Epididymal epithelial Mesothelioma NCI2004_11_17:C6382 disease_ontology DOID:7455 hypogonadotropism A parasitic helminthiasis infectious disease that involves infection of the anus by the pinworm Enterobius vermicularis. The major symptom is perianal itching. Infected people experience perianal pruritus and excoriations from scratching. DOID:7458 ICD10CM:B80 MESH:D010123 SNOMEDCT_US_2016_03_01:154415009 SNOMEDCT_US_2016_03_01:187178006 SNOMEDCT_US_2016_03_01:19722001 SNOMEDCT_US_2016_03_01:266162007 SNOMEDCT_US_2016_03_01:266222003 UMLS_CUI:C0030100 Oxyuris vermicularis infection (disorder) Threadworm infection disease_ontology Enterobius vermicularis infection Pinworm infection oxyuriasis DOID:7457 enterobiasis A parasitic helminthiasis infectious disease that involves infection of the anus by the pinworm Enterobius vermicularis. The major symptom is perianal itching. Infected people experience perianal pruritus and excoriations from scratching. url:http://www.dpd.cdc.gov/DPDx/HTML/Enterobiasis.htm url:http://www.merck.com/mmpe/sec14/ch182/ch182h.html?qt=enterobiasis&alt=sh Oxyuris vermicularis infection (disorder) SNOMEDCT_2005_07_31:360417007 Threadworm infection MTHICD9_2006:127.4 NCI:C40359 UMLS_CUI:C1519485 disease_ontology DOID:7459 acantholytic variant squamous cell breast carcinoma ICD10CM:D19.9 MESH:D018254 NCI:C3762 SNOMEDCT_US_2016_03_01:189835008 SNOMEDCT_US_2016_03_01:2348006 SNOMEDCT_US_2016_03_01:41183007 UMLS_CUI:C0206675 adenomatoid tumor (morphologic abnormality) adenomatoid tumor NOS (morphologic abnormality) benign localized epithelial Mesothelioma disease_ontology DOID:746 adenomatoid tumor adenomatoid tumor (morphologic abnormality) SNOMEDCT_2005_07_31:2348006 adenomatoid tumor NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189835008 benign localized epithelial Mesothelioma NCI2004_11_17:C3762 NCI:C40358 UMLS_CUI:C1519487 disease_ontology DOID:7460 spindle cell variant squamous cell breast carcinoma NCI:C40357 UMLS_CUI:C1519486 disease_ontology DOID:7461 large cell keratinizing variant squamous cell breast carcinoma NCI:C7959 UMLS_CUI:C0279614 childhood anaplastic Rhabdomyosarcoma disease_ontology DOID:7463 childhood pleomorphic rhabdomyosarcoma childhood anaplastic Rhabdomyosarcoma NCI2004_11_17:C7959 NCI:C39591 UMLS_CUI:C1512709 NK-cell large granular Lymphocyte Lymphocytosis disease_ontology DOID:7465 chronic NK-cell lymphocytosis NK-cell large granular Lymphocyte Lymphocytosis NCI2004_11_17:C39591 Epithelioid and spindle-cell nevus desmoplastic nevus desmoplastic nevus of skin (disorder) disease_ontology DOID:7468 Spitz nevus true desmoplastic nevus of skin (disorder) SNOMEDCT_2005_07_31:254813009 Balloon cell nevus Balloon cell nevus (morphologic abnormality) disease_ontology DOID:7469 balloon cell nevus true Balloon cell nevus NCI2004_11_17:C4226 Balloon cell nevus (morphologic abnormality) SNOMEDCT_2005_07_31:8276007 neuronevus (morphologic abnormality) disease_ontology DOID:7470 neural nevus true neuronevus (morphologic abnormality) SNOMEDCT_2005_07_31:17930004 disease_ontology DOID:7471 deep penetrating nevus true disease_ontology DOID:7472 recurrent nevus true relapsed malignant Pleural Mesothelioma disease_ontology DOID:7473 recurrent malignant pleural mesothelioma true relapsed malignant Pleural Mesothelioma NCI2004_11_17:C8707 A pleural cancer that has_material_basis_in mesothelium cells. ICD10CM:C45.0 NCI:C7376 SNOMEDCT_US_2016_03_01:109373004 SNOMEDCT_US_2016_03_01:187878009 SNOMEDCT_US_2016_03_01:254645002 UMLS_CUI:C0812413 malignant mesothelioma of pleura disease_ontology DOID:7474 malignant pleural mesothelioma A pleural cancer that has_material_basis_in mesothelium cells. url:http://en.wikipedia.org/wiki/Mesothelioma malignant mesothelioma of pleura SNOMEDCT_2005_07_31:187878009 An intestinal disease characterized by the formation and inflammation of diverticula within the bowel wall. MESH:D004238 NCI:C26752 SNOMEDCT_US_2016_03_01:155779000 SNOMEDCT_US_2016_03_01:18126004 SNOMEDCT_US_2016_03_01:197095003 SNOMEDCT_US_2016_03_01:197102009 SNOMEDCT_US_2016_03_01:197103004 SNOMEDCT_US_2016_03_01:307496006 UMLS_CUI:C0012813 disease_ontology DOID:7475 diverticulitis An intestinal disease characterized by the formation and inflammation of diverticula within the bowel wall. url:https://en.wikipedia.org/wiki/Diverticulitis NCI:C27407 UMLS_CUI:C1333320 duodenal delta cell somatostatin producing tumor disease_ontology DOID:7479 duodenal somatostatinoma NCI:C6876 SNOMEDCT_US_2016_03_01:128629005 UMLS_CUI:C1265997 large cell carcinoma with rhabdoid phenotype (morphologic abnormality) large cell lung carcinoma with Rhabdoid Phenotype disease_ontology DOID:7480 large cell carcinoma with rhabdoid phenotype large cell carcinoma with rhabdoid phenotype (morphologic abnormality) SNOMEDCT_2005_07_31:128629005 large cell lung carcinoma with Rhabdoid Phenotype NCI2004_11_17:C6876 NCI:C5271 UMLS_CUI:C1335396 meningioma of the Petrous Ridge disease_ontology DOID:7482 petrous apex meningioma meningioma of the Petrous Ridge NCI2004_11_17:C5271 NCI:C40187 UMLS_CUI:C1517658 disease_ontology DOID:7483 cervical keratinizing squamous cell carcinoma metastatic renal cell cancer disease_ontology DOID:7486 metastatic renal cell carcinoma true metastatic renal cell cancer NCI2004_11_17:C27806 NCI:C7640 UMLS_CUI:C0279931 Posterior urethral malignant tumor disease_ontology DOID:7488 posterior urethra cancer Posterior urethral malignant tumor NCI2004_11_17:C7640 A bone inflammation disease that involves rupture of the growth plate in children located_in tibia. MESH:D055034 NCI:C34874 SNOMEDCT_US_2016_03_01:156820001 SNOMEDCT_US_2016_03_01:268124001 SNOMEDCT_US_2016_03_01:430642003 SNOMEDCT_US_2016_03_01:72047008 SNOMEDCT_US_2016_03_01:79353000 UMLS_CUI:C0029376 Osgood-Schlatter disease Osteochondritis of tibial tubercle Osteochondrosis of proximal tibia juvenile osteochondrosis of tibial tubercle disease_ontology DOID:7489 Osgood-Schlatter's disease A bone inflammation disease that involves rupture of the growth plate in children located_in tibia. url:http://emedicine.medscape.com/article/827380-overview url:http://en.wikipedia.org/wiki/Osgood%E2%80%93Schlatter_disease url:http://orthoinfo.aaos.org/topic.cfm?topic=a00411 url:http://www.mayoclinic.com/health/osgood-schlatter-disease/DS00392 url:http://www.medicinenet.com/osgood-schlatter_disease/article.htm url:http://www.nlm.nih.gov/medlineplus/ency/article/001258.htm Osteochondritis of tibial tubercle SNOMEDCT_2005_07_31:79353000 Osteochondrosis of proximal tibia MTHICD9_2006:732.4 disease_ontology GI Bleeding DOID:749 active peptic ulcer disease NCI:C40319 UMLS_CUI:C1520093 disease_ontology DOID:7491 vulvar proximal-type epithelioid sarcoma NCI:C27472 UMLS_CUI:C1335563 disease_ontology DOID:7492 central epithelioid sarcoma NCI:C3861 SNOMEDCT_US_2016_03_01:254939008 UMLS_CUI:C0238029 Ependymal tumor of brain Ependymoma of brain (disorder) disease_ontology DOID:7497 brain ependymoma Ependymal tumor of brain NCI2004_11_17:C3861 Ependymoma of brain (disorder) SNOMEDCT_2005_07_31:254939008 A papillomavirus infectious disease and complicated_by acquired immunodeficiency syndrome that results_in infection, has_material_basis_in human papillomavirus, in patients with AIDS. disease_ontology DOID:7498 AIDS-related Human papillomavirus infectious disease true A papillomavirus infectious disease and complicated_by acquired immunodeficiency syndrome that results_in infection, has_material_basis_in human papillomavirus, in patients with AIDS. url:http://www.aids.org/topics/human-papillomavirus-hpv/ An immune system disease that is located_in the lymphatic system. MESH:D008206 SNOMEDCT_US_2016_03_01:111590001 SNOMEDCT_US_2016_03_01:155452000 SNOMEDCT_US_2016_03_01:234087005 SNOMEDCT_US_2016_03_01:266326002 SNOMEDCT_US_2016_03_01:3305006 SNOMEDCT_US_2016_03_01:362971004 UMLS_CUI:C0024228 Adenopathy Lymphangiopathy, NOS Lymphatic disease Lymphatic disorder disease of lympoid system disorder of lymph node and lymphatics (disorder) disorder of lymphatic system disorder of lymphoid system lymphatic disorder lympoid system disease disease_ontology DOID:75 lymphatic system disease An immune system disease that is located_in the lymphatic system. url:http://en.wikipedia.org/wiki/Lymphatic_disease url:http://www.nlm.nih.gov/medlineplus/lymphaticdiseases.html Adenopathy SNOMEDCT_2005_07_31:141342003 Adenopathy SNOMEDCT_2005_07_31:269044004 Lymphangiopathy, NOS SNOMEDCT_2005_07_31:3305006 Lymphatic disease MTH:461 Lymphatic disease MTH:NOCODE Lymphatic disease SNOMEDCT_2005_07_31:155452000 Lymphatic disease SNOMEDCT_2005_07_31:266326002 Lymphatic disorder NCI2004_11_17:C3206 disorder of lymph node and lymphatics (disorder) SNOMEDCT_2005_07_31:234087005 disorder of lymphatic system SNOMEDCT_2005_07_31:362971004 disorder of lymphoid system SNOMEDCT_2005_07_31:111590001 lymphatic disorder CSP2005:0427-7757 DOID:11466 DOID:12635 DOID:13115 ICD10CM:K27 ICD9CM:533 MESH:D010437 NCI:C3318 SNOMEDCT_US_2016_03_01:13200003 SNOMEDCT_US_2016_03_01:155701001 SNOMEDCT_US_2016_03_01:155710009 SNOMEDCT_US_2016_03_01:196681007 SNOMEDCT_US_2016_03_01:196697002 SNOMEDCT_US_2016_03_01:196704007 SNOMEDCT_US_2016_03_01:196705008 SNOMEDCT_US_2016_03_01:266437002 SNOMEDCT_US_2016_03_01:266501005 UMLS_CUI:C0030920 acute peptic ulcer with hemorrhage acute peptic ulcer with hemorrhage and perforation acute peptic ulcer without hemorrhage AND without perforation (disorder) acute peptic ulcer without hemorrhage and without perforation disease_ontology DOID:750 peptic ulcer disease acute peptic ulcer without hemorrhage AND without perforation (disorder) SNOMEDCT_2005_07_31:45485004 NCI:C9041 UMLS_CUI:C0278599 disease_ontology DOID:7501 pediatric infratentorial ependymoma NCI:C6268 NCI:C6772 NCI:C9043 UMLS_CUI:C0278650 pediatric Cerebral Ependymoma pediatric Supratentorial Ependymoblastoma disease_ontology DOID:7502 pediatric supratentorial ependymoma pediatric Cerebral Ependymoma NCI2004_11_17:C6268 pediatric Supratentorial Ependymoblastoma NCI2004_11_17:C6772 NCI:C5849 UMLS_CUI:C1333510 Papillary adenoma of the extrahepatic bile duct disease_ontology DOID:7503 extrahepatic bile duct papillary adenoma Papillary adenoma of the extrahepatic bile duct NCI2004_11_17:C5849 testicular mixed Embryonal carcinoma and Yolk Sac tumor disease_ontology DOID:7504 mixed embryonal carcinoma and endodermal sinus neoplasm of the testis true testicular mixed Embryonal carcinoma and Yolk Sac tumor NCI2004_11_17:C8001 NCI:C4432 SNOMEDCT_US_2016_03_01:126832004 UMLS_CUI:C0345832 neoplasm of small intestine (disorder) small intestinal neoplasm disease_ontology DOID:7505 small intestine neoplasm neoplasm of small intestine (disorder) SNOMEDCT_2005_07_31:126832004 small intestinal neoplasm NCI2004_11_17:C4432 NCI:C27452 UMLS_CUI:C3274143 disease_ontology DOID:7506 small intestinal L-cell glucagon-like peptide producing tumor Placenta Malformation Variation of placenta form disease_ontology DOID:7507 malformation of placenta true Placenta Malformation NCI2004_11_17:C27050 Variation of placenta form SNOMEDCT_2005_07_31:33552005 NCI:C5201 UMLS_CUI:C1334247 Intraductal papillomatosis of the breast disease_ontology DOID:7511 breast intraductal papillomatosis Intraductal papillomatosis of the breast NCI2004_11_17:C5201 NCI:C7365 UMLS_CUI:C1333626 disease_ontology DOID:7512 localized intraductal papillomatosis MESH:C536741 NCI:C40141 UMLS_CUI:C1520159 disease_ontology DOID:7514 Wolffian adnexal neoplasm NCI:C5298 UMLS_CUI:C1334436 meningioma of Lumbar Spinal canal and Spinal Cord disease_ontology DOID:7515 lumbar spinal canal and spinal cord meningioma meningioma of Lumbar Spinal canal and Spinal Cord NCI2004_11_17:C5298 NCI:C27403 UMLS_CUI:C1332956 disease_ontology DOID:7516 childhood central nervous system mixed germ cell tumor mixed germ cell tumor of CNS disease_ontology DOID:7517 central nervous system mixed germ cell tumor true mixed germ cell tumor of CNS NCI2004_11_17:C7016 ICD10CM:F52.31 ICD9CM:302.73 NCI:C34958 SNOMEDCT_US_2016_03_01:191794003 SNOMEDCT_US_2016_03_01:60103007 UMLS_CUI:C0033948 female Orgasmic disorder disease_ontology DOID:7518 inhibited female orgasm female Orgasmic disorder NCI2004_11_17:C34958 NCI:C28327 SNOMEDCT_US_2016_03_01:372098004 UMLS_CUI:C1299237 carcinoma of endocervix carcinoma of the Endocervix disease_ontology DOID:7519 endocervical carcinoma carcinoma of endocervix SNOMEDCT_2005_07_31:372098004 carcinoma of the Endocervix NCI2004_11_17:C28327 DOID:751 MESH:D010439 SNOMEDCT_US_2016_03_01:155703003 SNOMEDCT_US_2016_03_01:196700003 SNOMEDCT_US_2016_03_01:266502003 SNOMEDCT_US_2016_03_01:88169003 UMLS_CUI:C0030925 Peptic ulcer with perforation (disorder) Perforated peptic ulcer Unspecified peptic ulcer with perforation (disorder) acute peptic ulcer with perforation disease_ontology DOID:752 peptic ulcer perforation Peptic ulcer with perforation (disorder) SNOMEDCT_2005_07_31:88169003 Perforated peptic ulcer SNOMEDCT_2005_07_31:155703003 Perforated peptic ulcer SNOMEDCT_2005_07_31:266502003 Unspecified peptic ulcer with perforation (disorder) SNOMEDCT_2005_07_31:196700003 NCI:C40388 UMLS_CUI:C1518974 disease_ontology DOID:7520 periductal breast myoepitheliosis NCI:C40385 UMLS_CUI:C1513799 disease_ontology DOID:7521 breast myoepitheliosis NCI:C6773 UMLS_CUI:C1332972 disease_ontology DOID:7522 pediatric infratentorial ependymoblastoma metastatic tumor to the Ciliary body disease_ontology DOID:7526 metastatic neoplasm to the ciliary body true metastatic tumor to the Ciliary body NCI2004_11_17:C8553 ICD9CM:098.16 SNOMEDCT_US_2016_03_01:186913003 SNOMEDCT_US_2016_03_01:65295003 UMLS_CUI:C0153196 Gonococcal endometritis (acute) Uterus - acute gonorrhoea acute gonorrhea of uterus disease_ontology DOID:7527 acute gonococcal endometritis Gonococcal endometritis (acute) ICD9CM_2006:098.16 Uterus - acute gonorrhoea SNOMEDCT_2005_07_31:186913003 acute gonorrhea of uterus MTHICD9_2006:098.16 NCI:C27022 SNOMEDCT_US_2016_03_01:155976002 SNOMEDCT_US_2016_03_01:67667007 UMLS_CUI:C0238103 disease_ontology DOID:7528 acute endometritis An anus carcinoma that derives_from epithelial cells of glandular origin located_in the anal gland. NCI:C5609 SNOMEDCT_US_2016_03_01:128655006 UMLS_CUI:C1266027 adenocarcinoma of anal ducts anal glands adenocarcinoma disease_ontology adenocarcinoma of anal gland DOID:7531 anal gland adenocarcinoma An anus carcinoma that derives_from epithelial cells of glandular origin located_in the anal gland. url:http://en.wikipedia.org/wiki/Adenocarcinoma adenocarcinoma of anal ducts SNOMEDCT_2005_07_31:128655006 anal glands adenocarcinoma NCI2004_11_17:C5609 NCI:C9009 SNOMEDCT_US_2016_03_01:82049002 UMLS_CUI:C1378340 disease_ontology DOID:7532 squamous papillomatosis NCI:C9008 Subareolar duct papillomatosis disease_ontology DOID:7533 subareolar duct papillomatosis Subareolar duct papillomatosis NCI2004_11_17:C9008 Subareolar duct papillomatosis SNOMEDCT_2005_07_31:65787003 cystic hypersecretory duct carcinoma of the breast disease_ontology cystic hypersecretory carcinoma of the breast DOID:7537 breast cystic hypersecretory carcinoma cystic hypersecretory duct carcinoma of the breast NCI2004_11_17:C6869 NCI:C40384 UMLS_CUI:C1511307 disease_ontology DOID:7538 breast ductal adenoma NCI:C9473 SNOMEDCT_US_2016_03_01:128651002 UMLS_CUI:C1266023 Lactating adenoma (morphologic abnormality) disease_ontology DOID:7539 pregnancy adenoma Lactating adenoma (morphologic abnormality) SNOMEDCT_2005_07_31:128651002 An urogenital tuberculosis that is located_in urinary bladder, which results in fibrosis of bladder wall muscles. ICD10CM:A18.12 ICD9CM:016.1 ICD9CM:016.10 SNOMEDCT_US_2016_03_01:186237005 SNOMEDCT_US_2016_03_01:32268008 UMLS_CUI:C0152793 Tuberculosis of bladder (disorder) Tuberculosis of bladder, unspecified examination Tuberculous cystitis disease_ontology DOID:754 bladder tuberculosis An urogenital tuberculosis that is located_in urinary bladder, which results in fibrosis of bladder wall muscles. url:http://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf Tuberculosis of bladder (disorder) SNOMEDCT_2005_07_31:32268008 Tuberculosis of bladder, unspecified examination ICD9CM_2006:016.10 Tuberculous cystitis SNOMEDCT_2005_07_31:186237005 NCI:C40383 UMLS_CUI:C1388299 disease_ontology DOID:7540 breast apocrine adenoma NCI:C40364 UMLS_CUI:C1513365 disease_ontology DOID:7541 mixed epithelial/mesenchymal metaplastic breast carcinoma NCI:C6469 UMLS_CUI:C1335148 Osteosarcoma Arising in osseous Paget's disease osteosarcoma arising in bone Paget disease disease_ontology DOID:7542 osteosarcoma arising in bone Paget's disease Osteosarcoma Arising in osseous Paget's disease NCI2004_11_17:C6469 recurrent squamous cell carcinoma of esophagus disease_ontology DOID:7543 recurrent squamous cell carcinoma of the esophagus true recurrent squamous cell carcinoma of esophagus NCI2004_11_17:C8633 relapsed carcinoma of the esophagus disease_ontology DOID:7544 recurrent esophagus cancer true relapsed carcinoma of the esophagus NCI2004_11_17:C3999 SNOMEDCT_US_2016_03_01:403945001 SNOMEDCT_US_2016_03_01:52707009 UMLS_CUI:C0334352 Ceruminous adenoma (disorder) Ceruminous adenoma (morphologic abnormality) disease_ontology DOID:7549 ceruminoma Ceruminous adenoma (disorder) SNOMEDCT_2005_07_31:403945001 Ceruminous adenoma (morphologic abnormality) SNOMEDCT_2005_07_31:52707009 A primary bacterial infectious disease that is a sexually transmitted infection, located_in uterus, located_in fallopian tube, located_in urethra, located_in mouth, located_in throat, located_in eye or located_in anus, has_material_basis_in Neisseria gonorrhoeae, which is transmitted_by contact with the penis, vagina, mouth, or anus or transmitted_by congenitally from mother to baby during delivery. The infection has_symptom burning sensation during urination, has_symptom discharge from the penis, has_symptom increased vaginal discharge, or has_symptom vaginal bleeding between periods. DOID:10409 DOID:13557 ICD10CM:A54 ICD10CM:A54.9 ICD9CM:098 ICD9CM:098.2 ICD9CM:098.32 MESH:D006069 NCI:C35730 NCI:C92950 SNOMEDCT_US_2016_03_01:154387008 SNOMEDCT_US_2016_03_01:15628003 SNOMEDCT_US_2016_03_01:186943001 SNOMEDCT_US_2016_03_01:187361005 SNOMEDCT_US_2016_03_01:266142004 SNOMEDCT_US_2016_03_01:60893000 UMLS_CUI:C0018081 UMLS_CUI:C0153199 UMLS_CUI:C0153203 chronic gonococcal infectious disease of lower genitourinary tract chronic gonococcal infectious disease of upper genitourinary tract disease_ontology DOID:7551 gonorrhea A primary bacterial infectious disease that is a sexually transmitted infection, located_in uterus, located_in fallopian tube, located_in urethra, located_in mouth, located_in throat, located_in eye or located_in anus, has_material_basis_in Neisseria gonorrhoeae, which is transmitted_by contact with the penis, vagina, mouth, or anus or transmitted_by congenitally from mother to baby during delivery. The infection has_symptom burning sensation during urination, has_symptom discharge from the penis, has_symptom increased vaginal discharge, or has_symptom vaginal bleeding between periods. url:http://www.cdc.gov/std/gonorrhea/STDFact-gonorrhea.htm DOID:7552 DOID:7800 NCI:C39824 UMLS_CUI:C1512743 Infiltrating bladder Urothelial carcinoma, sarcomatoid Variant with Heterologous Elements Infiltrating bladder Urothelial carcinoma, sarcomatoid Variant without Heterologous Elements disease_ontology DOID:7553 infiltrating bladder urothelial carcinoma sarcomatoid variant Paget's disease and intraductal carcinoma of breast Paget's disease and intraductal carcinoma of breast (morphologic abnormality) Paget's disease of the breast with Intraductal carcinoma disease_ontology DOID:7554 Paget's disease and intraductal carcinoma of breast true Paget's disease and intraductal carcinoma of breast SNOMEDCT_2005_07_31:189714001 Paget's disease and intraductal carcinoma of breast (morphologic abnormality) SNOMEDCT_2005_07_31:54666007 Paget's disease of the breast with Intraductal carcinoma NCI2004_11_17:C4019 A HIV encephalopathy that results_in inflammation located_in white matter of neuraxis, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom weakness, has_symptom paralysis, has_symptom vision loss, has_symptom impaired speech, and has_symptom cognitive deterioration. Human immunodefiency virus leukoencephalopathy (disorder) disease_ontology DOID:7555 HIV leukoencephalopathy true A HIV encephalopathy that results_in inflammation located_in white matter of neuraxis, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom weakness, has_symptom paralysis, has_symptom vision loss, has_symptom impaired speech, and has_symptom cognitive deterioration. url:http://emedicine.medscape.com/article/1167145-overview url:http://en.wikipedia.org/wiki/Progressive_multifocal_leukoencephalopathy Human immunodefiency virus leukoencephalopathy (disorder) SNOMEDCT_2005_07_31:230180003 MESH:D020435 NCI:C27212 UMLS_CUI:C0751942 disease_ontology DOID:7558 glossopharyngeal motor neuropathy NCI:C27953 UMLS_CUI:C1332341 disease_ontology DOID:7559 asymmetric motor neuropathy NCI:C40306 UMLS_CUI:C1520081 disease_ontology DOID:7565 vulvar eccrine porocarcinoma MESH:D057090 NCI:C5560 SNOMEDCT_US_2016_03_01:128685001 SNOMEDCT_US_2016_03_01:254708001 UMLS_CUI:C1266065 Eccrine porocarcinoma of skin (disorder) Porocarcinoma malignant Eccrine Poroma disease_ontology DOID:7566 eccrine porocarcinoma Eccrine porocarcinoma of skin (disorder) SNOMEDCT_2005_07_31:254708001 Porocarcinoma SNOMEDCT_2005_07_31:128685001 malignant Eccrine Poroma NCI2004_11_17:C5560 NCI:C40307 UMLS_CUI:C1520076 disease_ontology DOID:7567 vulvar clear cell hidradenocarcinoma disease_ontology DOID:7568 adult brain meningioma true disease_ontology DOID:757 thyrotoxicosis with toxic single thyroid nodule true malignant Multilocular cystic Nephroma malignant cystic Nephroma malignant multilocular cystic nephroma disease_ontology DOID:7571 malignant cystic nephroma malignant Multilocular cystic Nephroma NCI2004_11_17:C6898 malignant cystic Nephroma NCI2004_11_17:C7505 malignant multilocular cystic nephroma SNOMEDCT_2005_07_31:128759009 NCI:C5725 UMLS_CUI:C1335304 Intraductal Papillary-mucinous carcinoma of pancreas disease_ontology DOID:7574 pancreatic intraductal papillary-colloid carcinoma Intraductal Papillary-mucinous carcinoma of pancreas NCI2004_11_17:C5725 NCI:C38342 UMLS_CUI:C1518869 disease_ontology DOID:7575 pancreatic intraductal papillary-mucinous neoplasm disease_ontology DOID:7576 metastatic pancreatic adenocarcinoma true NCI:C37256 UMLS_CUI:C1335303 disease_ontology DOID:7577 pancreatic foamy gland adenocarcinoma NCI:C7362 SNOMEDCT_US_2016_03_01:254839007 UMLS_CUI:C0346151 Infiltrating carcinoma of breast with Fibrotic Stroma Scirrhous carcinoma of breast (disorder) disease_ontology scirrhous carcinoma of breast DOID:7578 breast scirrhous carcinoma Infiltrating carcinoma of breast with Fibrotic Stroma NCI2004_11_17:C7362 Scirrhous carcinoma of breast (disorder) SNOMEDCT_2005_07_31:254839007 ICD10CM:Q89.3 ICD9CM:759.3 MESH:D012857 NCI:C87121 OMIM:270100 SNOMEDCT_US_2016_03_01:157025003 SNOMEDCT_US_2016_03_01:157033002 SNOMEDCT_US_2016_03_01:205765000 SNOMEDCT_US_2016_03_01:205770007 SNOMEDCT_US_2016_03_01:254257004 SNOMEDCT_US_2016_03_01:268359006 SNOMEDCT_US_2016_03_01:27317008 SNOMEDCT_US_2016_03_01:43876007 UMLS_CUI:C0037221 Complete transposition (morphologic abnormality) Laterality sequence (disorder) situs inversus viscerum (disorder) disease_ontology DOID:758 OMIM mapping confirmed by DO. [LS]. situs inversus Complete transposition (morphologic abnormality) SNOMEDCT_2005_07_31:27317008 Laterality sequence (disorder) SNOMEDCT_2005_07_31:24614000 situs inversus viscerum (disorder) SNOMEDCT_2005_07_31:43876007 Depressive type psychosis Severe major depression with psychotic features (disorder) psychotic depression disease_ontology DOID:7581 psychogenic depressive psychosis true Depressive type psychosis ICD9CM_2006:298.0 Severe major depression with psychotic features (disorder) SNOMEDCT_2005_07_31:73867007 psychotic depression CSP2005:2483-6684 psychotic depression CSP2005:2484-8182 NCI:C8189 UMLS_CUI:C0280329 Glottic verrucous carcinoma disease_ontology verrucous carcinoma of glottis DOID:7583 glottis verrucous carcinoma Glottic verrucous carcinoma NCI2004_11_17:C8189 NCI:C8190 UMLS_CUI:C0280330 verrucous carcinoma of Subglottis disease_ontology verrucous carcinoma of the subglottis DOID:7584 subglottis verrucous carcinoma verrucous carcinoma of Subglottis NCI2004_11_17:C8190 NCI:C8187 UMLS_CUI:C0280326 Epidermoid carcinoma of the Subglottis disease_ontology DOID:7585 subglottis squamous cell carcinoma Epidermoid carcinoma of the Subglottis NCI2004_11_17:C8187 NCI:C8191 UMLS_CUI:C0280331 verrucous carcinoma of Supraglottis disease_ontology verrucous carcinoma of the supraglottis DOID:7586 supraglottis verrucous carcinoma verrucous carcinoma of Supraglottis NCI2004_11_17:C8191 NCI:C4945 UMLS_CUI:C0749163 Epidermoid carcinoma of the Supraglottis disease_ontology DOID:7587 supraglottis squamous cell carcinoma Epidermoid carcinoma of the Supraglottis NCI2004_11_17:C4945 mixed Yolk Sac tumor and teratoma of testis disease_ontology DOID:7588 mixed endodermal sinus neoplasm and teratoma of the testis true mixed Yolk Sac tumor and teratoma of testis NCI2004_11_17:C8002 disease_ontology DOID:7589 ovarian dermoid cyst with melanocytic nevus true congenital abnormality disease_ontology DOID:759 congenital disorder true disease_ontology DOID:7590 ovarian dermoid cyst with secondary melanocytic lesion true NCI:C40442 UMLS_CUI:C1517538 disease_ontology DOID:7591 gestational ovarian choriocarcinoma relapsed pediatric Medulloblastoma disease_ontology DOID:7593 recurrent pediatric medulloblastoma true relapsed pediatric Medulloblastoma NCI2004_11_17:C6774 NCI:C27925 UMLS_CUI:C1332337 disease_ontology DOID:7596 asbestos-related lung carcinoma NCI:C40193 UMLS_CUI:C1516418 disease_ontology DOID:7598 cervical lymphoepithelioma-like carcinoma NCI:C7998 UMLS_CUI:C0279706 Lymphoepithelioma-like carcinoma of the Thymus disease_ontology DOID:7599 lymphoepithelioma-like thymic carcinoma Lymphoepithelioma-like carcinoma of the Thymus NCI2004_11_17:C7998 A gastrointestinal system disease that is located_in the stomach. MESH:D013272 NCI:C26886 SNOMEDCT_US_2016_03_01:155671005 SNOMEDCT_US_2016_03_01:183927002 SNOMEDCT_US_2016_03_01:196598004 SNOMEDCT_US_2016_03_01:266497000 SNOMEDCT_US_2016_03_01:29384001 UMLS_CUI:C0038354 Gastropathy stomach disorder disease_ontology gastric disease DOID:76 stomach disease A gastrointestinal system disease that is located_in the stomach. url:http://en.wikipedia.org/wiki/Stomach_disease Gastropathy SNOMEDCT_2005_07_31:183927002 stomach disorder NCI2004_11_17:C26886 gastric disease SNOMEDCT_2005_07_31:155671005 NCI:C39821 UMLS_CUI:C1512736 disease_ontology DOID:7600 infiltrating bladder lymphoepithelioma-like carcinoma Advanced malignant Mesothelioma of Pleura disease_ontology DOID:7601 advanced malignant pleural mesothelioma true Advanced malignant Mesothelioma of Pleura NCI2004_11_17:C8706 NCI:C35870 SNOMEDCT_US_2016_03_01:128770002 SNOMEDCT_US_2016_03_01:128774006 UMLS_CUI:C1266166 Intracortical osteosarcoma (morphologic abnormality) disease_ontology DOID:7602 intracortical osteogenic sarcoma Intracortical osteosarcoma (morphologic abnormality) SNOMEDCT_2005_07_31:128774006 NCI:C4020 SNOMEDCT_US_2016_03_01:12690005 UMLS_CUI:C0279602 Fibroblastic osteosarcoma (morphologic abnormality) Fibrosarcomatous Osteogenic sarcoma disease_ontology DOID:7603 fibrosarcomatous osteosarcoma Fibroblastic osteosarcoma (morphologic abnormality) SNOMEDCT_2005_07_31:12690005 Fibrosarcomatous Osteogenic sarcoma NCI2004_11_17:C4020 NCI:C4154 SNOMEDCT_US_2016_03_01:12205003 UMLS_CUI:C0334320 Chief cell adenoma of Parathyroid gland disease_ontology DOID:7607 chief cell adenoma Chief cell adenoma of Parathyroid gland NCI2004_11_17:C4154 MESH:D010282 NCI:C3916 SNOMEDCT_US_2016_03_01:128474007 UMLS_CUI:C0262587 adenoma of the Parathyroid gland disease_ontology adenoma of parathyroid DOID:7608 parathyroid adenoma adenoma of the Parathyroid gland NCI2004_11_17:C3916 NCI:C7993 UMLS_CUI:C0279700 Clear cell adenoma of the Parathyroid disease_ontology DOID:7609 parathyroid transitional clear cell adenoma Clear cell adenoma of the Parathyroid NCI2004_11_17:C7993 Meningococcal endocarditis (disorder) disease_ontology DOID:761 meningococcal endocarditis true Meningococcal endocarditis (disorder) SNOMEDCT_2005_07_31:34845009 NCI:C7994 UMLS_CUI:C0279701 mixed cell type adenoma of the Parathyroid gland disease_ontology DOID:7610 mixed cell type adenoma of parathyroid mixed cell type adenoma of the Parathyroid gland NCI2004_11_17:C7994 NCI:C27393 UMLS_CUI:C1335351 disease_ontology DOID:7611 parathyroid oncocytic adenoma NCI:C6590 UMLS_CUI:C1332974 disease_ontology DOID:7612 childhood intracortical osteosarcoma NCI:C4334 SNOMEDCT_US_2016_03_01:14494009 UMLS_CUI:C0334612 Meningeal sarcomatosis (morphologic abnormality) sarcomatosis of meninges disease_ontology DOID:7613 sarcomatosis of the meninges Meningeal sarcomatosis (morphologic abnormality) SNOMEDCT_2005_07_31:14494009 sarcomatosis of meninges NCI2004_11_17:C4334 NCI:C4073 SNOMEDCT_US_2016_03_01:277996009 SNOMEDCT_US_2016_03_01:78303004 UMLS_CUI:C0302327 Meningeal sarcoma sarcoma of meninges disease_ontology DOID:7614 meninges sarcoma Meningeal sarcoma SNOMEDCT_2005_07_31:277996009 Meningeal sarcoma SNOMEDCT_2005_07_31:78303004 sarcoma of meninges NCI2004_11_17:C4073 A sarcoma that results_in the formation of numerous sarcomas or located_in various parts of the body. NCI:C4243 SNOMEDCT_US_2016_03_01:189765009 SNOMEDCT_US_2016_03_01:9395006 UMLS_CUI:C0334451 sarcomatosis (morphologic abnormality) sarcomatosis NOS (morphologic abnormality) disease_ontology DOID:7615 sarcomatosis A sarcoma that results_in the formation of numerous sarcomas or located_in various parts of the body. url:http://www.searchmedica.com/search.html?q=sarcoma%20of%20the%20testis&c=pc&ss= sarcomatosis (morphologic abnormality) SNOMEDCT_2005_07_31:9395006 sarcomatosis NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189765009 DOID:14105 Bacterial endocarditis Bacterial endocarditis (& [acute] or [subacute]) Bacterial endocarditis (disorder) Bacterial endocarditis (disorder) [Ambiguous] Endocarditis, infective NOS acute and subacute bacterial endocarditis acute and subacute bacterial endocarditis (disorder) acute and subacute bacterial endocarditis NOS (disorder) bacterial endocarditis disease_ontology DOID:762 bacterial endocarditis true Bacterial endocarditis SNOMEDCT_2005_07_31:194922003 Bacterial endocarditis (& [acute] or [subacute]) SNOMEDCT_2005_07_31:194922003 Bacterial endocarditis (disorder) SNOMEDCT_2005_07_31:301183007 Bacterial endocarditis (disorder) [Ambiguous] SNOMEDCT_2005_07_31:50194006 Endocarditis, infective NOS MTHICD9_2006:421.0 acute and subacute bacterial endocarditis (disorder) SNOMEDCT_2005_07_31:266237004 acute and subacute bacterial endocarditis NOS (disorder) SNOMEDCT_2005_07_31:194925001 bacterial endocarditis CSP2005:1393-3487 Meningococcal carditis (disorder) Meningococcal carditis NOS (disorder) Meningococcal carditis unspecified (disorder) Meningococcal carditis, unspecified disease_ontology DOID:763 meningococcal carditis true Meningococcal carditis (disorder) SNOMEDCT_2005_07_31:33618002 Meningococcal carditis NOS (disorder) SNOMEDCT_2005_07_31:186371004 Meningococcal carditis unspecified (disorder) SNOMEDCT_2005_07_31:186367002 Meningococcal carditis, unspecified ICD9CM_2006:036.40 NCI:C8290 UMLS_CUI:C0281330 disease_ontology DOID:7631 adult ependymoblastoma A male reproductive organ cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is_located_in the Cowper's gland. NCI:C39864 UMLS_CUI:C1516284 disease_ontology DOID:7632 Cowper gland carcinoma A male reproductive organ cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is_located_in the Cowper's gland. url:http://en.wikipedia.org/wiki/Cowper_gland MESH:D012167 NCI:C34795 SNOMEDCT_US_2016_03_01:193388002 SNOMEDCT_US_2016_03_01:232006002 UMLS_CUI:C0024441 Macular hole disease_ontology DOID:7633 macular holes Macular hole SNOMEDCT_2005_07_31:193388002 NCI:C6776 UMLS_CUI:C1336535 disease_ontology DOID:7634 suprasellar meningioma NCI:C6779 UMLS_CUI:C1333760 meningioma of Gasserian Ganglion disease_ontology DOID:7635 Gasserian ganglion meningioma meningioma of Gasserian Ganglion NCI2004_11_17:C6779 relapsed carcinoma of the small Intestine disease_ontology DOID:7636 recurrent cancer of small Intestine true relapsed carcinoma of the small Intestine NCI2004_11_17:C7894 Paget's disease of breast with Infiltrating ductal carcinoma disease_ontology DOID:7638 Paget's disease and invasive ductal carcinoma of breast true Paget's disease of breast with Infiltrating ductal carcinoma NCI2004_11_17:C7951 NCI:C5614 UMLS_CUI:C1334575 malignant granular cell skin neoplasm malignant granular cell tumor of skin disease_ontology DOID:7639 malignant granular cell skin tumor malignant granular cell tumor of skin NCI2004_11_17:C5614 Meningococcal pericarditis (disorder) disease_ontology DOID:764 meningococcal pericarditis true Meningococcal pericarditis (disorder) SNOMEDCT_2005_07_31:66704002 Unresectable Small Intestine carcinoma disease_ontology DOID:7641 non-resectable small intestine carcinoma true Unresectable Small Intestine carcinoma NCI2004_11_17:C8638 NCI:C41617 UMLS_CUI:C1516490 disease_ontology DOID:7642 cholangiolocellular carcinoma NCI:C4460 SNOMEDCT_US_2016_03_01:254654004 UMLS_CUI:C0345979 Acantholytic squamous cell carcinoma of skin (disorder) Acantholytic squamous cell skin carcinoma disease_ontology acantholytic squamous cell carcinoma of skin DOID:7643 acantholytic squamous cell skin carcinoma Acantholytic squamous cell carcinoma of skin (disorder) SNOMEDCT_2005_07_31:254654004 Acantholytic squamous cell skin carcinoma NCI2004_11_17:C4460 NCI:C5275 UMLS_CUI:C1334825 Multiple meningiomas of the Spinal canal and Spinal Cord disease_ontology DOID:7646 multiple spinal canal and spinal cord meningioma Multiple meningiomas of the Spinal canal and Spinal Cord NCI2004_11_17:C5275 NCI:C40440 UMLS_CUI:C1518737 disease_ontology DOID:7650 pulmonary type ovarian small cell carcinoma NCI:C40439 UMLS_CUI:C1518736 disease_ontology DOID:7651 hypercalcemic type ovarian small cell carcinoma disease_ontology DOID:7652 rare cancer-associated syndrome true NCI:C8289 UMLS_CUI:C0281329 adult Infiltrating Astrocytic tumor adult Infiltrating astrocytoma disease_ontology DOID:7656 adult infiltrating astrocytic neoplasm adult Infiltrating Astrocytic tumor NCI2004_11_17:C8289 adult Infiltrating astrocytoma MTH:NOCODE Undifferentiated astrocytoma of adult disease_ontology DOID:7657 anaplastic astrocytoma of adult true Undifferentiated astrocytoma of adult NCI2004_11_17:C8257 NCI:C40153 UMLS_CUI:C1516856 disease_ontology DOID:7664 endometrial mixed adenocarcinoma NCI:C39991 UMLS_CUI:C1518355 disease_ontology DOID:7665 non-gestational ovarian choriocarcinoma MESH:D009133 NCI:C94834 SNOMEDCT_US_2016_03_01:155014006 SNOMEDCT_US_2016_03_01:156721007 SNOMEDCT_US_2016_03_01:203036002 SNOMEDCT_US_2016_03_01:249827008 SNOMEDCT_US_2016_03_01:267693003 SNOMEDCT_US_2016_03_01:268104000 SNOMEDCT_US_2016_03_01:88092000 UMLS_CUI:C0026846 Amyotrophia Muscle wasting Wasting - muscle disease_ontology DOID:767 muscular atrophy Amyotrophia MTHICD9_2006:728.2 Muscle wasting SNOMEDCT_2005_07_31:249827008 Wasting - muscle SNOMEDCT_2005_07_31:156721007 relapsed carcinoma of penis disease_ontology DOID:7671 recurrent penis cancer true relapsed carcinoma of penis NCI2004_11_17:C7870 disease_ontology DOID:7672 regressing non-cutaneous melanoma true NCI:C39951 UMLS_CUI:C1515282 disease_ontology DOID:7675 testicular fibroma NCI:C39952 UMLS_CUI:C1515299 disease_ontology DOID:7676 testicular thecoma metastatic Skeletal Ewing's sarcoma disease_ontology DOID:7677 bone metastatic Ewing's sarcoma true metastatic Skeletal Ewing's sarcoma NCI2004_11_17:C6621 NCI:C6841 UMLS_CUI:C1336037 Inverted papilloma of the Sphenoid sinus disease_ontology DOID:7678 sphenoid sinus inverted papilloma Inverted papilloma of the Sphenoid sinus NCI2004_11_17:C6841 NCI:C6838 UMLS_CUI:C1336038 Schneiderian papilloma of the Sphenoid sinus disease_ontology DOID:7679 sphenoid sinus Schneiderian papilloma Schneiderian papilloma of the Sphenoid sinus NCI2004_11_17:C6838 A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina. MESH:D012175 NCI:C6956 NCI:C7541 OMIM:180200 SNOMEDCT_US_2016_03_01:134191003 SNOMEDCT_US_2016_03_01:154553002 SNOMEDCT_US_2016_03_01:189934006 SNOMEDCT_US_2016_03_01:189935007 SNOMEDCT_US_2016_03_01:19906005 SNOMEDCT_US_2016_03_01:269614001 SNOMEDCT_US_2016_03_01:370967009 UMLS_CUI:C0035335 RB RB - Retinoblastoma neuroblastoma of Retina disease_ontology DOID:768 OMIM mapping confirmed by DO. [LS]. retinoblastoma A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina. url:http://www.cancer.gov/cancertopics/types/retinoblastoma RB NCI2004_11_17:C7541 RB - Retinoblastoma SNOMEDCT_2005_07_31:134191003 neuroblastoma of Retina NCI2004_11_17:C6956 mixed Choriocarcinoma and teratoma of testis disease_ontology DOID:7681 mixed choriocarcinoma and teratoma of the testis true mixed Choriocarcinoma and teratoma of testis NCI2004_11_17:C6349 disease_ontology DOID:7683 dissecting aortic aneurysm true NCI:C6240 UMLS_CUI:C1334642 adenocarcinoma of the maxillary sinus disease_ontology adenocarcinoma of maxillary sinus DOID:7684 maxillary sinus adenocarcinoma adenocarcinoma of the maxillary sinus NCI2004_11_17:C6240 NCI:C41251 UMLS_CUI:C1518873 disease_ontology DOID:7685 pancreatic non-invasive intraductal papillary-mucinous carcinoma NCI:C8312 SNOMEDCT_US_2016_03_01:78303004 UMLS_CUI:C1384416 Leptomeningeal sarcoma sarcoma of Leptomeninges disease_ontology DOID:7689 leptomeninges sarcoma Leptomeningeal sarcoma SNOMEDCT_2005_07_31:78303004 sarcoma of Leptomeninges NCI2004_11_17:C8312 An autonomic nervous system neoplasm that derives_from immature nerve cells. EFO:0000621 MESH:D009447 NCI:C3270 OMIM:256700 OMIM:613013 OMIM:613014 OMIM:613015 OMIM:613016 ORDO:635 SNOMEDCT_US_2016_03_01:189931003 SNOMEDCT_US_2016_03_01:269507008 SNOMEDCT_US_2016_03_01:432328008 SNOMEDCT_US_2016_03_01:87364003 UMLS_CUI:C0027819 neuroblastoma (Schwannian Stroma-Poor) disease_ontology DOID:769 Xref MGI. OMIM mapping confirmed by DO. [SN]. neuroblastoma An autonomic nervous system neoplasm that derives_from immature nerve cells. url:http://www.cancer.gov/cancertopics/types/neuroblastoma neuroblastoma (Schwannian Stroma-Poor) NCI2004_11_17:C3270 An aortic aneurysm that is located_in the abdominal aorta. EFO:0004214 MESH:D017544 NCI:C27000 OMIM:100070 OMIM:609782 OMIM:611891 OMIM:614375 SNOMEDCT_US_2016_03_01:155422008 SNOMEDCT_US_2016_03_01:233985008 UMLS_CUI:C0162871 AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1 disease_ontology DOID:7693 abdominal aortic aneurysm An aortic aneurysm that is located_in the abdominal aorta. url:http://en.wikipedia.org/wiki/Aortic_aneurysm NCI:C39843 UMLS_CUI:C1511204 disease_ontology DOID:7694 bladder urachal adenocarcinoma SNOMEDCT_US_2016_03_01:93827000 UMLS_CUI:C0346601 malignant tumor of lung Hilum primary malignant neoplasm of hilus of lung (disorder) disease_ontology DOID:7696 lung hilum cancer malignant tumor of lung Hilum NCI2004_11_17:C4566 primary malignant neoplasm of hilus of lung (disorder) SNOMEDCT_2005_07_31:93827000 NCI:C27466 UMLS_CUI:C1335300 pancreatic Adrenocorticotropic Hormone Producing tumor disease_ontology DOID:7697 pancreatic ACTH hormone producing tumor pancreatic Adrenocorticotropic Hormone Producing tumor NCI2004_11_17:C27466 MESH:C536126 NCI:C45837 UMLS_CUI:C1334977 disease_ontology DOID:7698 non-functioning pancreatic endocrine tumor A disease of anatomical entity that is located_in the gastrointestinal tract. DOID:27 DOID:944 ICD10CM:K92.9 ICD9CM:520-579.99 MESH:D004066 SNOMEDCT_US_2016_03_01:155629009 SNOMEDCT_US_2016_03_01:155847001 SNOMEDCT_US_2016_03_01:197575000 SNOMEDCT_US_2016_03_01:266483008 SNOMEDCT_US_2016_03_01:53619000 UMLS_CUI:C0012242 GIT disease Gastroenteropathy alimentary system disease digestive system disorder gastrointestinal disease gastrointestinal disorder disease_ontology DOID:77 gastrointestinal system disease A disease of anatomical entity that is located_in the gastrointestinal tract. url:http://en.wikipedia.org/wiki/Human_gastrointestinal_tract GIT disease SNOMEDCT_2005_07_31:53619000 Gastroenteropathy SNOMEDCT_2005_07_31:25374005 gastrointestinal disorder CSP2005:1248-3545 An oropharyngeal candidiasis that involves fungal infection of the oropharynx by Candida species in AIDS patients. disease_ontology DOID:7702 AIDS-related oropharyngeal candidiasis true An oropharyngeal candidiasis that involves fungal infection of the oropharynx by Candida species in AIDS patients. url:http://en.wikipedia.org/wiki/Candidiasis A human papillomavirus related adenocarcinoma that results_in infection, located_in endocervix, has_material_basis_in human papillomaviruses (types 16, 18, 31, 39 or 45), which cause lesions that progress to cancers. HPV-Related Endocervical adenocarcinoma disease_ontology DOID:7704 human papilloma virus related endocervical adenocarcinoma true A human papillomavirus related adenocarcinoma that results_in infection, located_in endocervix, has_material_basis_in human papillomaviruses (types 16, 18, 31, 39 or 45), which cause lesions that progress to cancers. url:http://jnci.oxfordjournals.org/content/98/5/303.full.pdf+html url:http://www.ncbi.nlm.nih.gov/pubmed/18813124 HPV-Related Endocervical adenocarcinoma NCI2004_11_17:C27677 A Cytomegalovirus infectious disease that results_in infection located_in esophagus, has_material_basis_in Human herpesvirus 5 and has_symptom odynophagia, has_symptom nausea and vomiting, has_symptom fever, has_symptom diarrhea, and has_symptom hemoptysis. CMV esophagitis disease_ontology DOID:7706 Cytomegalovirus esophagitis true A Cytomegalovirus infectious disease that results_in infection located_in esophagus, has_material_basis_in Human herpesvirus 5 and has_symptom odynophagia, has_symptom nausea and vomiting, has_symptom fever, has_symptom diarrhea, and has_symptom hemoptysis. url:http://emedicine.medscape.com/article/173272-overview NCI:C9168 UMLS_CUI:C0279654 Signet Ring cell adenocarcinoma of rectum disease_ontology DOID:7707 rectum signet ring adenocarcinoma Signet Ring cell adenocarcinoma of rectum NCI2004_11_17:C9168 NCI:C7476 UMLS_CUI:C1332270 perianal skin Paget disease disease_ontology DOID:7708 perianal skin Paget's disease A malignant neoplasm that derives_from the retina. NCI:C7061 UMLS_CUI:C1335765 disease_ontology DOID:771 retinal cell cancer A malignant neoplasm that derives_from the retina. url:http://www.wrongdiagnosis.com/medical/retinal_cancer.htm metastatic extraosseous chondrosarcoma disease_ontology DOID:7710 metastatic extraskeletal chondrosarcoma true metastatic extraosseous chondrosarcoma NCI2004_11_17:C8804 An adult sarcoma of soft tissue that derives_form the soft tissues of the body. relapsed adult sarcoma of the soft tissue disease_ontology DOID:7712 recurrent adult soft tissue sarcoma true An adult sarcoma of soft tissue that derives_form the soft tissues of the body. URL:http://www.cancer.gov/cancertopics/pdq/treatment/adult-soft-tissue-sarcoma/Patient relapsed adult sarcoma of the soft tissue NCI2004_11_17:C7822 NCI:C5284 UMLS_CUI:C1336829 meningioma of the Tuberculum Sellae disease_ontology DOID:7713 tuberculum sellae meningioma meningioma of the Tuberculum Sellae NCI2004_11_17:C5284 disease_ontology DOID:7714 metastatic malignant hemangiopericytoma true NCI:C6879 SNOMEDCT_US_2016_03_01:396892009 SNOMEDCT_US_2016_03_01:999000 UMLS_CUI:C1301048 disease_ontology DOID:7716 mixed ductal-endocrine carcinoma NCI:C37214 UMLS_CUI:C1333081 disease_ontology DOID:7717 colloid carcinoma of the pancreas Osteoclast-like Giant cell neoplasm of pancreas disease_ontology DOID:7718 osteoclast-like giant cell neoplasm of the pancreas Osteoclast-like Giant cell neoplasm of pancreas NCI2004_11_17:C5723 metastatic tumor to the Retina disease_ontology DOID:772 metastasis to the retina true metastatic tumor to the Retina NCI2004_11_17:C8555 DOID:13426 Generalized convulsive epilepsy, with intractable epilepsy disease_ontology DOID:7724 generalized convulsive epilepsy true An adolescence-adult electroclinical syndrome starting in adolescence exhibiting generalized tonic-clonic seizures as the only seizure type. MESH:D004830 NCI:C3022 SNOMEDCT_US_2016_03_01:352818000 UMLS_CUI:C0014549 Epileptic seizures, tonic-clonic Grand Mal epilepsy tonic-clonic epilepsy disease_ontology DOID:7725 epilepsy with generalized tonic-clonic seizures An adolescence-adult electroclinical syndrome starting in adolescence exhibiting generalized tonic-clonic seizures as the only seizure type. JA:Epilepsy Genetics Kiel url:http://www.ilae-epilepsy.org Epileptic seizures, tonic-clonic MTHICD9_2006:345.1 Grand Mal epilepsy NCI2004_11_17:C3022 disease_ontology DOID:7728 chronic allograft arteriopathy true NCI:C3874 NCI:C5727 SNOMEDCT_US_2016_03_01:128703004 UMLS_CUI:C1266087 acinar cell cystadenocarcinoma (morphologic abnormality) pancreatic acinar cell cystadenocarcinoma disease_ontology DOID:7729 acinar cell cystadenocarcinoma acinar cell cystadenocarcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:128703004 pancreatic acinar cell cystadenocarcinoma NCI2004_11_17:C5727 metastatic tumor to the eye secondary malignant neoplasm of eye (disorder) disease_ontology DOID:773 metastasis to eye true metastatic tumor to the eye NCI2004_11_17:C4586 secondary malignant neoplasm of eye (disorder) SNOMEDCT_2005_07_31:94292003 NCI:C8090 UMLS_CUI:C0279983 malignant pediatric hemangiopericytoma disease_ontology DOID:7731 childhood malignant hemangiopericytoma malignant pediatric hemangiopericytoma NCI2004_11_17:C8090 NCI:C8094 UMLS_CUI:C0279987 pediatric MPNST disease_ontology DOID:7732 childhood malignant schwannoma pediatric MPNST NCI2004_11_17:C8094 NCI:C41619 UMLS_CUI:C1519321 disease_ontology DOID:7733 signet ring cell intrahepatic cholangiocarcinoma NCI:C5718 UMLS_CUI:C1335309 mucinous Cystadenoma of pancreas disease_ontology DOID:7735 pancreatic colloid cystadenoma mucinous Cystadenoma of pancreas NCI2004_11_17:C5718 ICD9CM:362.15 SNOMEDCT_US_2016_03_01:84884003 UMLS_CUI:C0154835 disease_ontology DOID:7736 retinal telangiectasia A human papillomavirus related squamous cell carcinoma that results_in infection located_in penis, has_material_basis_in human papillomavirus (types 16 and 18), which cause malignant tumors in squamous epithelium of the penis. DOID:7740 Condylomatous carcinoma of penis HPV-Related Penile squamous cell carcinoma penis warty carcinoma disease_ontology warty carcinoma of penis DOID:7739 human papilloma virus related penile squamous cell carcinoma true A human papillomavirus related squamous cell carcinoma that results_in infection located_in penis, has_material_basis_in human papillomavirus (types 16 and 18), which cause malignant tumors in squamous epithelium of the penis. url:http://jco.ascopubs.org/content/25/29/4550.full.pdf+html Condylomatous carcinoma of penis NCI2004_11_17:C6981 HPV-Related Penile squamous cell carcinoma NCI2004_11_17:C27682 NCI:C4365 SNOMEDCT_US_2016_03_01:232075002 UMLS_CUI:C0339556 Lymphoma of retina (disorder) Retinal Lymphoma disease_ontology DOID:774 retina lymphoma Lymphoma of retina (disorder) SNOMEDCT_2005_07_31:232075002 Retinal Lymphoma NCI2004_11_17:C4365 An extraocular retinoblastoma that effects children. NCI:C9048 UMLS_CUI:C1321870 childhood Extraocular Retinoblastoma disease_ontology DOID:7747 pediatric extraocular retinoblastoma An extraocular retinoblastoma that effects children. url:http://www.cancer.gov/cancertopics/pdq/treatment/retinoblastoma/HealthProfessional/page7 childhood Extraocular Retinoblastoma NCI2004_11_17:C9048 DOID:7746 MESH:D064090 NCI:C9184 UMLS_CUI:C0281658 primary intraocular lymphoma disease_ontology DOID:775 intraocular lymphoma NCI:C9372 UMLS_CUI:C1332186 disease_ontology DOID:7750 adult brain ependymoma NCI:C7124 UMLS_CUI:C1333511 disease_ontology DOID:7752 extrahepatic biliary papillomatosis relapsed testicular carcinoma disease_ontology DOID:7753 recurrent cancer of testis true relapsed testicular carcinoma NCI2004_11_17:C9369 pulmonary Chondroid hamartoma disease_ontology DOID:7754 Chondroid hamartoma of lung true pulmonary Chondroid hamartoma NCI2004_11_17:C5659 NCI:C3845 UMLS_CUI:C0235813 Neonatal Leukemia disease_ontology DOID:7756 neonatal leukemia Neonatal Leukemia NCI2004_11_17:C3845 A leukemia that occurs in children. NCI:C4989 UMLS_CUI:C1332977 disease_ontology DOID:7757 childhood leukemia A leukemia that occurs in children. url:http://www.nlm.nih.gov/medlineplus/leukemiachildhood.html A childhood renal Wilms cancer that occurs in children. It encompasses two histologically distinct but grossly indistinguishable lesions: cystic nephroma and cystic partially differentiated nephroblastoma (CPDN). NCI:C6566 UMLS_CUI:C1332983 pediatric Multilocular cystic renal tumor disease_ontology benign Multilocular cystic renal tumor DOID:7762 childhood multilocular cystic kidney neoplasm A childhood renal Wilms cancer that occurs in children. It encompasses two histologically distinct but grossly indistinguishable lesions: cystic nephroma and cystic partially differentiated nephroblastoma (CPDN). url:http://radiographics.rsna.org/content/15/3/653.abstract pediatric Multilocular cystic renal tumor NCI2004_11_17:C6566 NCI:C5973 SNOMEDCT_US_2016_03_01:372105009 UMLS_CUI:C1299240 Supraglottic carcinoma carcinoma of supraglottis (disorder) disease_ontology DOID:7763 carcinoma of supraglottis Supraglottic carcinoma NCI2004_11_17:C5973 carcinoma of supraglottis (disorder) SNOMEDCT_2005_07_31:372105009 NCI:C5972 SNOMEDCT_US_2016_03_01:372104008 UMLS_CUI:C1299239 Subglottic carcinoma carcinoma of subglottis (disorder) disease_ontology DOID:7764 subglottis carcinoma Subglottic carcinoma NCI2004_11_17:C5972 carcinoma of subglottis (disorder) SNOMEDCT_2005_07_31:372104008 ICD10CM:H35.02 ICD10CM:H35.07 ICD9CM:362.12 MESH:D058456 OMIM:300216 SNOMEDCT_US_2016_03_01:193359003 SNOMEDCT_US_2016_03_01:193360008 SNOMEDCT_US_2016_03_01:25506007 SNOMEDCT_US_2016_03_01:360455002 UMLS_CUI:C0154832 Coats' disease Coats' syndrome Exudative retinopathy disease_ontology DOID:7765 OMIM mapping confirmed by DO. [SN]. Coats disease Coats' disease SNOMEDCT_2005_07_31:360455002 Exudative retinopathy ICD9CM_2006:362.12 A psychotic disorder that involves an uncommon psychiatric condition in which patients present with circumscribed symptoms of non-bizarre delusions, but with the absence of prominent hallucinations and no thought disorder, mood disorder, or significant flattening effect. ICD10CM:F22 ICD9CM:297.1 MESH:D012563 NCI:C94379 SNOMEDCT_US_2016_03_01:192330005 SNOMEDCT_US_2016_03_01:48500005 UMLS_CUI:C0011251 disease_ontology DOID:778 delusional disorder A psychotic disorder that involves an uncommon psychiatric condition in which patients present with circumscribed symptoms of non-bizarre delusions, but with the absence of prominent hallucinations and no thought disorder, mood disorder, or significant flattening effect. url:http://en.wikipedia.org/wiki/Delusional_disorder mixed Choriocarcinoma and Embryonal carcinoma of testis disease_ontology DOID:7786 mixed choriocarcinoma and embryonal carcinoma of the testis true mixed Choriocarcinoma and Embryonal carcinoma of testis NCI2004_11_17:C6348 NCI:C5189 UMLS_CUI:C1335149 Osteogenic sarcoma of breast disease_ontology DOID:7787 breast osteosarcoma Osteogenic sarcoma of breast NCI2004_11_17:C5189 NCI:C27399 UMLS_CUI:C1332215 disease_ontology DOID:7788 adult spinal cord ependymoma A uterine Corpus sarcoma that has recurred after it has been treated. relapsed sarcoma of Uterus disease_ontology DOID:7793 recurrent uterine sarcoma true A uterine Corpus sarcoma that has recurred after it has been treated. url:http://my.clevelandclinic.org/disorders/uterine_sarcoma/hic_uterine_sarcoma.aspx url:http://www.cancer.gov/cancertopics/pdq/treatment/uterinesarcoma/Patient relapsed sarcoma of Uterus NCI2004_11_17:C8261 ureteral transitional cell carcinoma with glandular differentiation disease_ontology DOID:7799 transitional cell carcinoma of the ureter with glandular differentiation true ureteral transitional cell carcinoma with glandular differentiation NCI2004_11_17:C6157 A uterine disease that is located_in the placenta. DOID:1815 DOID:5366 DOID:9219 ICD10CM:O43 ICD10CM:O43.9 ICD10CM:O43.90 ICD9CM:646.9 MESH:D010922 MESH:D011248 NCI:C26857 NCI:C27619 NCI:C34941 NCI:C35169 SNOMEDCT_US_2016_03_01:125586008 SNOMEDCT_US_2016_03_01:156069003 SNOMEDCT_US_2016_03_01:156097009 SNOMEDCT_US_2016_03_01:156123001 SNOMEDCT_US_2016_03_01:156131006 SNOMEDCT_US_2016_03_01:172422001 SNOMEDCT_US_2016_03_01:173300003 SNOMEDCT_US_2016_03_01:198881004 SNOMEDCT_US_2016_03_01:199152008 SNOMEDCT_US_2016_03_01:23288008 SNOMEDCT_US_2016_03_01:267293009 SNOMEDCT_US_2016_03_01:267311008 SNOMEDCT_US_2016_03_01:267314000 SNOMEDCT_US_2016_03_01:90821003 UMLS_CUI:C0032045 UMLS_CUI:C0032962 UMLS_CUI:C0151864 UMLS_CUI:C1335423 disease_ontology DOID:780 placenta disease A uterine disease that is located_in the placenta. url:http://en.wikipedia.org/wiki/Placenta_disease disease_ontology DOID:7801 plasmacytoma-like PTLD true Non-metastatic extraskeletal Osteogenic sarcoma disease_ontology DOID:7805 nonmetastatic extraskeletal osteosarcoma true Non-metastatic extraskeletal Osteogenic sarcoma NCI2004_11_17:C8809 NCI:C27183 SNOMEDCT_US_2016_03_01:276829003 UMLS_CUI:C0559185 Glioblastoma multiforme of spinal cord (disorder) adult Spinal Cord Glioblastoma disease_ontology DOID:7806 adult spinal cord glioblastoma multiforme Glioblastoma multiforme of spinal cord (disorder) SNOMEDCT_2005_07_31:276829003 adult Spinal Cord Glioblastoma NCI2004_11_17:C27183 NCI:C6865 UMLS_CUI:C1333026 necrotic Choroid melanoma disease_ontology DOID:7807 choroid necrotic melanoma necrotic Choroid melanoma NCI2004_11_17:C6865 NCI:C7990 UMLS_CUI:C1334931 disease_ontology DOID:7808 necrotic uveal melanoma Undifferentiated Giant cell carcinoma of the Thyroid gland disease_ontology DOID:7809 anaplastic giant cell thyroid carcinoma true Undifferentiated Giant cell carcinoma of the Thyroid gland NCI2004_11_17:C7906 An intestinal infectious disease and is_a Cytomegalovirus infectious disease that is complicated_by acquired immunodeficiency syndrome which results_in inflammation located_in colon and located_in small intestine, has_material_basis_in Cytomegalovirus in AIDS patients. disease_ontology AIDS-related enterocolitis DOID:7810 AIDS-related Cytomegalovirus enterocolitis true An intestinal infectious disease and is_a Cytomegalovirus infectious disease that is complicated_by acquired immunodeficiency syndrome which results_in inflammation located_in colon and located_in small intestine, has_material_basis_in Cytomegalovirus in AIDS patients. url:http://books.google.com/books?id=chs_lilPFLwC&pg=PA173&lpg#v=onepage&q&f=false An Enterovirus infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Human echovirus 11, which is transmitted_by contaminated drinking water. The infection has_symptom diarrhea. DOID:7854 disease_ontology DOID:7812 Enterovirus gastroenteritis true An Enterovirus infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Human echovirus 11, which is transmitted_by contaminated drinking water. The infection has_symptom diarrhea. url:http://www.ncbi.nlm.nih.gov/pubmed/17033423 url:http://www.springerlink.com/content/p0255l7r3217771k/fulltext.pdf A Cytomegalovirus infectious disease that results_in infection, located_in colon, has_material_basis_in Human herpesvirus 5, which results_in_formation_of ulcer, has_symptom watery or bloody diarrhea, has_symptom abdominal pain, has_symptom fever, and has_symptom weight loss. CMV colitis disease_ontology DOID:7814 Cytomegalovirus colitis true A Cytomegalovirus infectious disease that results_in infection, located_in colon, has_material_basis_in Human herpesvirus 5, which results_in_formation_of ulcer, has_symptom watery or bloody diarrhea, has_symptom abdominal pain, has_symptom fever, and has_symptom weight loss. url:http://emedicine.medscape.com/article/173151-overview url:http://www.nlm.nih.gov/medlineplus/ency/article/000667.htm Thymoma malignant recurrent disease_ontology DOID:7815 recurrent malignant thymoma true Thymoma malignant recurrent NCI2004_11_17:C7905 NCI:C8272 UMLS_CUI:C0280792 disease_ontology DOID:7817 mixed astrocytoma-ependymoma-oligodendroglioma NCI:C5278 UMLS_CUI:C1335395 disease_ontology DOID:7818 petroclival meningioma NCI:C5285 UMLS_CUI:C1336040 disease_ontology DOID:7819 sphenoorbital meningioma ICD10CM:N15.9 ICD9CM:590 ICD9CM:590.9 SNOMEDCT_US_2016_03_01:129128006 SNOMEDCT_US_2016_03_01:155865002 SNOMEDCT_US_2016_03_01:197785002 SNOMEDCT_US_2016_03_01:266618004 UMLS_CUI:C0021313 disease_ontology DOID:782 renal infectious disease NCI:C5313 UMLS_CUI:C1336036 disease_ontology DOID:7820 sphenocavernous meningioma NCI:C5287 UMLS_CUI:C1336051 Multifocal Clear cell meningioma of Spine disease_ontology DOID:7824 spinal multifocal clear cell meningioma Multifocal Clear cell meningioma of Spine NCI2004_11_17:C5287 NCI:C35603 UMLS_CUI:C1333048 disease_ontology DOID:7825 chronic toxic polyneuropathy NCI:C8293 UMLS_CUI:C0281334 disease_ontology DOID:7826 adult papillary meningioma An adult sarcoma of soft tissue and extraosseous osteosarcoma that is located in the soft tissues without direct attachment to the skeletal system and results in the production of osteoid, bone, or chondroid material. NCI:C7925 UMLS_CUI:C0278985 disease_ontology DOID:7827 adult extraosseous osteosarcoma An adult sarcoma of soft tissue and extraosseous osteosarcoma that is located in the soft tissues without direct attachment to the skeletal system and results in the production of osteoid, bone, or chondroid material. url:http://jco.ascopubs.org/cgi/content/full/20/2/521 end stage renal disease disease_ontology DOID:783 end stage renal failure end stage renal disease CSP2005:1682-2922 A human papilloma virus related cervical squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause papillae in squamous epithelium of cervix. disease_ontology DOID:7833 cervical papillary squamous cell carcinoma true A human papilloma virus related cervical squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause papillae in squamous epithelium of cervix. url:http://www.ncbi.nlm.nih.gov/sites/entrez/13678741 A human papillomavirus related squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause malignant tumors in squamous epithelium of cervix. DOID:6371 HPV-Related cervical carcinoma HPV-Related cervical squamous cell carcinoma human papilloma virus related cervical carcinoma disease_ontology DOID:7834 human papilloma virus related cervical squamous cell carcinoma true A human papillomavirus related squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause malignant tumors in squamous epithelium of cervix. url:http://clincancerres.aacrjournals.org/content/13/23/7067.full.pdf+html HPV-Related cervical carcinoma NCI2004_11_17:C27675 HPV-Related cervical squamous cell carcinoma NCI2004_11_17:C27676 mixed acinar-endocrine carcinoma mixed acinar-endocrine carcinoma (morphologic abnormality) disease_ontology DOID:7836 mixed acinar-endocrine carcinoma true mixed acinar-endocrine carcinoma SNOMEDCT_2005_07_31:999000 mixed acinar-endocrine carcinoma (morphologic abnormality) SNOMEDCT_2005_07_31:396891002 NCI:C40363 UMLS_CUI:C1518329 disease_ontology DOID:7839 infiltrating nipple syringomatous adenoma EFO:0003884 ICD10CM:N18.9 ICD9CM:585.6 MESH:D007676 NCI:C9438 SNOMEDCT_US_2016_03_01:155856009 SNOMEDCT_US_2016_03_01:197654000 SNOMEDCT_US_2016_03_01:197655004 SNOMEDCT_US_2016_03_01:197755007 SNOMEDCT_US_2016_03_01:46177005 SNOMEDCT_US_2016_03_01:90688005 UMLS_CUI:C0022661 CKD CRF chronic kidney failure chronic renal disease chronic renal failure syndrome renal failure - chronic disease_ontology DOID:784 chronic kidney disease CRF CSP2005:1682-2922 chronic renal disease NCI2004_11_17:C9438 chronic renal failure syndrome SNOMEDCT_2005_07_31:90688005 renal failure - chronic SNOMEDCT_2005_07_31:155856009 NCI:C28333 UMLS_CUI:C1335311 disease_ontology DOID:7840 pancreatic non-functioning delta cell tumor NCI:C6957 UMLS_CUI:C1332962 disease_ontology DOID:7841 pediatric cerebral ependymoblastoma A breast carcinoma that is manifested in the female breast. NCI:C2918 UMLS_CUI:C0007104 Mammary carcinoma of female breast disease_ontology carcinoma of female breast DOID:7843 female breast carcinoma A breast carcinoma that is manifested in the female breast. url:http://en.wikipedia.org/wiki/Breast_cancer Mammary carcinoma of female breast NCI2004_11_17:C2918 disease_ontology DOID:7847 vascular hemorrhagic disorder true A histiocytic and dendritic cell cancer that effect dendritic cells. ICD10CM:C96.4 MESH:D054739 NCI:C9282 SNOMEDCT_US_2016_03_01:128815007 UMLS_CUI:C1260326 Interdigitating cell sarcoma disease_ontology DOID:7848 interdigitating dendritic cell sarcoma A histiocytic and dendritic cell cancer that effect dendritic cells. url:http://en.wikipedia.org/wiki/Interdigitating_dendritic_cell_sarcoma Interdigitating cell sarcoma NCI2004_11_17:C9282 Interdigitating cell sarcoma SNOMEDCT_2005_07_31:128815007 A histiocytic and dendritic cell cancer that is mainly located_in lymph nodes. NCI:C27260 SNOMEDCT_US_2016_03_01:128815007 SNOMEDCT_US_2016_03_01:397355008 UMLS_CUI:C1301364 Dendritic cell sarcoma Dendritic cell sarcoma, not otherwise specified (morphologic abnormality) disease_ontology follicular dendritic cell sarcoma DOID:7849 dendritic cell sarcoma A histiocytic and dendritic cell cancer that is mainly located_in lymph nodes. url:http://findarticles.com/p/articles/mi_m0BUM/is_12_83/ai_n8704912/ Dendritic cell sarcoma SNOMEDCT_2005_07_31:128815007 Dendritic cell sarcoma, not otherwise specified (morphologic abnormality) SNOMEDCT_2005_07_31:397355008 recurrent melanoma of Uvea disease_ontology DOID:7850 recurrent uvea melanoma true recurrent melanoma of Uvea NCI2004_11_17:C7914 NCI:C41249 SNOMEDCT_US_2016_03_01:473418001 UMLS_CUI:C1518868 disease_ontology DOID:7851 pancreatic intraductal papillary-mucinous adenoma relapsed germ cell tumor of Ovary disease_ontology DOID:7855 recurrent ovarian germ cell neoplasm true relapsed germ cell tumor of Ovary NCI2004_11_17:C8087 ICD10CM:J38.7 ICD10CM:S12.8 ICD9CM:478.70 MESH:D007818 NCI:C26810 SNOMEDCT_US_2016_03_01:195863001 SNOMEDCT_US_2016_03_01:60600009 UMLS_CUI:C0023051 disease_ontology DOID:786 laryngeal disease NCI:C5792 UMLS_CUI:C1370504 germinoma of the adult central nervous system disease_ontology DOID:7867 adult central nervous system germinoma germinoma of the adult central nervous system NCI2004_11_17:C5792 NCI:C6840 UMLS_CUI:C1334645 Inverted papilloma of the maxillary sinus disease_ontology DOID:7868 maxillary sinus inverted papilloma Inverted papilloma of the maxillary sinus NCI2004_11_17:C6840 NCI:C27514 UMLS_CUI:C1332220 disease_ontology DOID:7875 adult xanthogranuloma NCI:C40235 UMLS_CUI:C1519844 disease_ontology DOID:7878 uterine corpus atypical polypoid adenomyoma NCI:C40445 UMLS_CUI:C1517842 leuteoma of pregnancy luteoma of pregnancy disease_ontology DOID:7880 luteoma disease_ontology DOID:789 hypotony of eye associated with another ocular disorder true disease_ontology DOID:7890 testicular spermatocytic seminoma with sarcoma true disease_ontology DOID:7891 testicular spermatocytic seminoma disease_ontology DOID:7892 breast adenohibernoma true A parasitic ectoparasitic infectious disease that involves infestation of mites belonging to the family Sarcoptidae, Trombiculidae and Demodicidae. ICD10CM:B88.0 ICD10CM:B88.9 ICD9CM:133 ICD9CM:133.9 MESH:D008924 SNOMEDCT_US_2016_03_01:154422001 SNOMEDCT_US_2016_03_01:187214007 SNOMEDCT_US_2016_03_01:187217000 SNOMEDCT_US_2016_03_01:240885009 SNOMEDCT_US_2016_03_01:266224002 SNOMEDCT_US_2016_03_01:78166003 UMLS_CUI:C0026229 disease_ontology DOID:7894 mite infestation A parasitic ectoparasitic infectious disease that involves infestation of mites belonging to the family Sarcoptidae, Trombiculidae and Demodicidae. url:http://en.wikipedia.org/wiki/Mite ICD10CM:H44.4 ICD10CM:H44.40 ICD9CM:360.3 ICD9CM:360.30 MESH:D015814 SNOMEDCT_US_2016_03_01:193280007 SNOMEDCT_US_2016_03_01:193283009 SNOMEDCT_US_2016_03_01:19721008 SNOMEDCT_US_2016_03_01:23670006 UMLS_CUI:C0028841 Hypotony of eye disease_ontology DOID:790 ocular hypotension Hypotony of eye ICD9CM_2006:360.3 disease_ontology DOID:7902 adult extraosseous chondrosarcoma NCI:C5462 UMLS_CUI:C1334238 disease_ontology DOID:7903 intracranial chondrosarcoma NCI:C8271 UMLS_CUI:C0280791 disease_ontology DOID:7907 mixed astrocytoma-ependymoma Disorganized schizophrenia in remission (disorder) Disorganized type schizophrenia, in remission disease_ontology DOID:791 disorganized schizophrenia in remission true Disorganized schizophrenia in remission (disorder) SNOMEDCT_2005_07_31:31373002 Disorganized type schizophrenia, in remission ICD9CM_2006:295.15 NCI:C6064 UMLS_CUI:C1334647 Epidermoid carcinoma of the Maxillofacial sinus disease_ontology DOID:7910 maxillary sinus squamous cell carcinoma Epidermoid carcinoma of the Maxillofacial sinus NCI2004_11_17:C6064 MESH:D009837 NCI:C4050 SNOMEDCT_US_2016_03_01:22217002 UMLS_CUI:C0280793 WHO grade II mixed glioma disease_ontology DOID:7912 mixed oligodendroglioma-astrocytoma WHO grade II mixed glioma NCI2004_11_17:C4050 NCI:C5296 UMLS_CUI:C1332916 meningioma of the cervical Spinal canal and Spinal Cord disease_ontology DOID:7915 cervical spinal canal and spinal cord meningioma meningioma of the cervical Spinal canal and Spinal Cord NCI2004_11_17:C5296 Non-metastatic extraskeletal Ewing's sarcoma disease_ontology DOID:7919 nonmetastatic extra-osseous ewing's sarcoma true Non-metastatic extraskeletal Ewing's sarcoma NCI2004_11_17:C8802 disease_ontology DOID:792 disorganized schizophrenia true benign soft tissue tumor of CNS disease_ontology DOID:7920 central nervous system benign soft tissue neoplasm true benign soft tissue tumor of CNS NCI2004_11_17:C6757 NCI:C6636 UMLS_CUI:C1332513 benign Psammomatous Schwannoma of mediastinum disease_ontology DOID:7921 benign mediastinal psammomatous neurilemmoma benign Psammomatous Schwannoma of mediastinum NCI2004_11_17:C6636 NCI:C6625 benign Schwannoma of mediastinum disease_ontology DOID:7922 benign mediastinal neurilemmoma benign Schwannoma of mediastinum NCI2004_11_17:C6625 NCI:C7997 SNOMEDCT_US_2016_03_01:128715000 SNOMEDCT_US_2016_03_01:128716004 UMLS_CUI:C0279705 Squamoid Thymoma Thymoma, epithelial Well differentiated thymic carcinoma disease_ontology DOID:7926 epithelial malignant thymoma Squamoid Thymoma NCI2004_11_17:C7997 Thymoma, epithelial SNOMEDCT_2005_07_31:128715000 Well differentiated thymic carcinoma SNOMEDCT_2005_07_31:128716004 NCI:C7999 SNOMEDCT_US_2016_03_01:128708008 UMLS_CUI:C0279707 Thymoma, medullary, malignant disease_ontology DOID:7927 malignant type A thymoma Thymoma, medullary, malignant SNOMEDCT_2005_07_31:128708008 NCI:C9077 UMLS_CUI:C1377904 Refractory testicular carcinoma disease_ontology DOID:7928 testis refractory cancer Refractory testicular carcinoma NCI2004_11_17:C9077 Schizophrenia in remission (disorder) Unspecified schizophrenia, in remission disease_ontology DOID:793 schizophrenia in remission true Schizophrenia in remission (disorder) SNOMEDCT_2005_07_31:4926007 Unspecified schizophrenia, in remission ICD9CM_2006:295.95 NCI:C39926 UMLS_CUI:C1515305 disease_ontology DOID:7930 glandular-alveolar pattern testicular yolk sac tumor Old Burn Scar-Related squamous cell carcinoma of the skin disease_ontology DOID:7931 old burn scar-related squamous cell carcinoma of skin true Old Burn Scar-Related squamous cell carcinoma of the skin NCI2004_11_17:C27918 NCI:C5640 UMLS_CUI:C1332997 disease_ontology DOID:7933 childhood precursor T-lymphoblastic lymphoma/leukemia NCI:C8696 UMLS_CUI:C0854859 disease_ontology DOID:7936 precursor T-lymphoblastic lymphoma/leukemia refractory Dyschondroplasia Dyschondroplasia (disorder) Dyschondroplasia NOS (disorder) disease_ontology DOID:7938 dyschondroplasia true Dyschondroplasia MTHICD9_2006:756.4 Dyschondroplasia NCI2004_11_17:C34556 Dyschondroplasia SNOMEDCT_2005_07_31:16535008 Dyschondroplasia SNOMEDCT_2005_07_31:205469005 Dyschondroplasia SNOMEDCT_2005_07_31:268274005 Dyschondroplasia (disorder) SNOMEDCT_2005_07_31:254143008 Dyschondroplasia NOS (disorder) SNOMEDCT_2005_07_31:205471005 Residual schizophrenia in remission (disorder) Residual schizophrenia, in remission disease_ontology DOID:794 residual schizophrenia in remission true Residual schizophrenia in remission (disorder) SNOMEDCT_2005_07_31:51133006 Residual schizophrenia, in remission ICD9CM_2006:295.65 NCI:C7027 UMLS_CUI:C1332460 Barrett adenocarcinoma adenocarcinoma Arising in Barrett's Mucosa disease_ontology DOID:7941 Barrett's adenocarcinoma adenocarcinoma Arising in Barrett's Mucosa NCI2004_11_17:C7027 NCI:C27402 UMLS_CUI:C1332195 disease_ontology DOID:7945 adult central nervous system mixed germ cell tumor recurrent colon carcinoma disease_ontology DOID:7946 recurrent cancer of colon true recurrent colon carcinoma NCI2004_11_17:C3998 NCI:C42060 UMLS_CUI:C1516761 disease_ontology DOID:7949 stroma-dominant and stroma-poor composite ganglioneuroblastoma Residual schizophrenia Residual schizophrenia (disorder) Residual schizophrenia, unspecified state Residual type schizophrenic disorder Restzustand, schizophrenic disease_ontology DOID:795 residual type schizophrenia true Residual schizophrenia SNOMEDCT_2005_07_31:192324005 Residual schizophrenia (disorder) SNOMEDCT_2005_07_31:26025008 Residual schizophrenia, unspecified state ICD9CM_2006:295.60 Residual type schizophrenic disorder ICD9CM_2006:295.6 Restzustand, schizophrenic MTHICD9_2006:295.6 NCI:C42059 UMLS_CUI:C1516760 disease_ontology DOID:7951 Schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma A nipple carcinoma that is located_in the nipple duct. NCI:C27234 UMLS_CUI:C1334967 disease_ontology DOID:7953 nipple duct carcinoma A nipple carcinoma that is located_in the nipple duct. url:http://www.cancer.gov/dictionary?CdrID=45963 An Epstein-Barr virus related lymphoma and is_a posttransplantation lymphoproliferative disorder that derives_from lymphocytes after organ transplant, has_material_basis_in Human herpesvirus 4. DOID:7828 EBV Related Clonal PTLD EBV-related PTLD Epstein-Barr virus related posttransplantation lymphoproliferative disorder disease_ontology DOID:7956 EBV-related posttransplantation lymphoproliferative disease true An Epstein-Barr virus related lymphoma and is_a posttransplantation lymphoproliferative disorder that derives_from lymphocytes after organ transplant, has_material_basis_in Human herpesvirus 4. url:http://lymphoma.about.com/od/riskfactors/qt/ebvlymphoma.htm EBV Related Clonal PTLD NCI2004_11_17:C27695 NCI:C6984 UMLS_CUI:C1335923 sarcomatous carcinoma of the penis disease_ontology DOID:7958 sarcomatoid penile squamous cell carcinoma sarcomatous carcinoma of the penis NCI2004_11_17:C6984 NCI:C5731 UMLS_CUI:C1333321 Gastrinoma of duodenum duodenal G-cell gastrin producing tumor malignant duodenal gastrinoma disease_ontology DOID:7959 duodenal gastrinoma Gastrinoma of duodenum NCI2004_11_17:C5731 NCI:C5117 SNOMEDCT_US_2016_03_01:128895006 SNOMEDCT_US_2016_03_01:403942003 UMLS_CUI:C1266063 malignant Eccrine Spiradenoma malignant eccrine spiradenoma (morphologic abnormality) disease_ontology DOID:7960 malignant spiradenoma malignant Eccrine Spiradenoma NCI2004_11_17:C5117 malignant eccrine spiradenoma (morphologic abnormality) SNOMEDCT_2005_07_31:128895006 NCI:C40188 UMLS_CUI:C1518366 disease_ontology DOID:7961 cervical non-keratinizing squamous cell carcinoma NCI:C40159 UMLS_CUI:C1515212 disease_ontology DOID:7962 tamoxifen-related endometrial lesion disease_ontology DOID:7966 type 3 ALPS true NCI:C39828 UMLS_CUI:C1512738 disease_ontology DOID:7967 lipid-cell variant infiltrating bladder urothelial carcinoma NCI:C39823 UMLS_CUI:C1512742 disease_ontology DOID:7968 plasmacytoid variant infiltrating bladder urothelial carcinoma NCI:C39819 UMLS_CUI:C1512741 disease_ontology DOID:7969 nested variant infiltrating bladder urothelial carcinoma NCI:C39820 UMLS_CUI:C1512740 disease_ontology DOID:7971 microcystic variant infiltrating bladder urothelial carcinoma NCI:C39822 UMLS_CUI:C1512739 disease_ontology DOID:7972 lymphoma-like variant infiltrating bladder urothelial carcinoma disease_ontology DOID:7979 helicobacter pylori-related gastric adenocarcinoma true NCI:C5180 UMLS_CUI:C1334565 malignant Eccrine Spiradenoma of the breast disease_ontology DOID:7983 breast malignant eccrine spiradenoma malignant Eccrine Spiradenoma of the breast NCI2004_11_17:C5180 NCI:C27944 UMLS_CUI:C1335932 disease_ontology DOID:7984 sclerosing breast papilloma NCI:C5267 UMLS_CUI:C1333597 Falcine meningioma disease_ontology DOID:7986 cerebral falx meningioma Falcine meningioma NCI2004_11_17:C5267 A vein disease that is characterized by swollen, twisted veins visible just under the surface of the skin. ICD10CM:I83.90 MESH:D014648 NCI:C35114 OMIM:192200 SNOMEDCT_US_2016_03_01:128060009 SNOMEDCT_US_2016_03_01:12856003 SNOMEDCT_US_2016_03_01:155468006 SNOMEDCT_US_2016_03_01:155482006 SNOMEDCT_US_2016_03_01:234053000 SNOMEDCT_US_2016_03_01:266331000 SNOMEDCT_US_2016_03_01:276504003 SNOMEDCT_US_2016_03_01:399989005 UMLS_CUI:C0042345 Varix Venous ectasia Venous varices varices disease_ontology DOID:799 varicose veins A vein disease that is characterized by swollen, twisted veins visible just under the surface of the skin. url:http://www.nlm.nih.gov/medlineplus/varicoseveins.html url:https://www.nhlbi.nih.gov/health/health-topics/topics/vv/ Varix SNOMEDCT_2005_07_31:12856003 Venous ectasia SNOMEDCT_2005_07_31:399989005 Venous varices SNOMEDCT_2005_07_31:128060009 varices CSP2005:0571-9214 NCI:C7002 UMLS_CUI:C1335150 disease_ontology DOID:7994 central nervous system osteosarcoma NCI:C5350 UMLS_CUI:C1333987 disease_ontology DOID:7996 familial glomangioma A thyroid gland disease that is characterized by excess thyroid hormone. ICD10CM:E05.9 ICD9CM:242 MESH:D013971 NCI:C61469 OMIM:275000 SNOMEDCT_US_2016_03_01:154655004 SNOMEDCT_US_2016_03_01:154659005 SNOMEDCT_US_2016_03_01:190239004 SNOMEDCT_US_2016_03_01:190267008 SNOMEDCT_US_2016_03_01:267373004 SNOMEDCT_US_2016_03_01:267464006 SNOMEDCT_US_2016_03_01:286909009 SNOMEDCT_US_2016_03_01:90739004 UMLS_CUI:C0040156 disease_ontology DOID:7997 OMIM mapping confirmed by DO. [LS]. thyrotoxicosis A thyroid gland disease that is characterized by excess thyroid hormone. url:http://www.ncbi.nlm.nih.gov/pubmed/22394559 A thyroid gland disease that involves an over production of thyroid hormone. ICD10CM:E05.9 MESH:D006980 NCI:C3123 OMIM:603373 OMIM:609152 ORDO:99819 SNOMEDCT_US_2016_03_01:154655004 SNOMEDCT_US_2016_03_01:190239004 SNOMEDCT_US_2016_03_01:267464006 SNOMEDCT_US_2016_03_01:34486009 UMLS_CUI:C0020550 overactive thyroid disease_ontology DOID:7998 Xref MGI. hyperthyroidism A thyroid gland disease that involves an over production of thyroid hormone. url:http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001396/ overactive thyroid NCI2004_11_17:C3123 NCI:C5292 UMLS_CUI:C1333643 disease_ontology DOID:8000 frontal convexity meningioma NCI:C6793 SNOMEDCT_US_2016_03_01:126697005 UMLS_CUI:C0345726 Supraglottic tumor neoplasm of supraglottis (disorder) disease_ontology DOID:8002 supraglottis neoplasm Supraglottic tumor NCI2004_11_17:C6793 neoplasm of supraglottis (disorder) SNOMEDCT_2005_07_31:126697005 NCI:C4140 SNOMEDCT_US_2016_03_01:8097004 UMLS_CUI:C0334303 Alveolar adenoma (morphologic abnormality) adenoma of alveoli disease_ontology adenoma of the alveoli DOID:8003 alveoli adenoma Alveolar adenoma (morphologic abnormality) SNOMEDCT_2005_07_31:8097004 adenoma of alveoli NCI2004_11_17:C4140 disease_ontology DOID:8004 ovarian dermoid cyst with prolactin secreting adenoma true disease_ontology DOID:8005 ovarian dermoid cyst with secondary pituitary-type tumor true NCI:C5277 UMLS_CUI:C1335481 primary meningioma of the skin disease_ontology DOID:8006 skin meningioma primary meningioma of the skin NCI2004_11_17:C5277 DOID:4485 DOID:5762 MESH:D010178 NCI:C27710 NCI:C55815 NCI:C7527 SNOMEDCT_US_2016_03_01:154486000 SNOMEDCT_US_2016_03_01:187860004 SNOMEDCT_US_2016_03_01:254638002 SNOMEDCT_US_2016_03_01:269562004 SNOMEDCT_US_2016_03_01:278065000 SNOMEDCT_US_2016_03_01:80367008 UMLS_CUI:C0030271 UMLS_CUI:C0549471 UMLS_CUI:C1335574 Pancoast's syndrome Pancoast's tumour Superior pulmonary sulcus syndrome (disorder) [Ambiguous] malignant Superior Sulcus tumor pulmonary sulcus tumor disease_ontology DOID:8007 Pancoast tumor Pancoast's syndrome SNOMEDCT_2005_07_31:187860004 Pancoast's tumour SNOMEDCT_2005_07_31:154486000 Superior pulmonary sulcus syndrome (disorder) [Ambiguous] SNOMEDCT_2005_07_31:80367008 malignant Superior Sulcus tumor NCI2004_11_17:C7527 NCI:C39959 UMLS_CUI:C1513369 disease_ontology DOID:8009 penis mixed squamous cell carcinoma DOID:12025 DOID:13059 DOID:13646 DOID:13933 DOID:14242 DOID:800 DOID:953 ICD10CM:M25.0 ICD9CM:719.1 ICD9CM:719.10 MESH:D006395 SNOMEDCT_US_2016_03_01:156581006 SNOMEDCT_US_2016_03_01:156591000 SNOMEDCT_US_2016_03_01:202394001 SNOMEDCT_US_2016_03_01:202422006 SNOMEDCT_US_2016_03_01:81808003 UMLS_CUI:C0018924 Haemarthrosis of shoulder joint Haemarthrosis of the ankle and foot Haemarthrosis of the pelvic region and thigh Hemarthrosis involving ankle and foot Hemarthrosis involving forearm Hemarthrosis involving hand Hemarthrosis involving lower leg Hemarthrosis involving pelvic region and thigh Hemarthrosis involving shoulder region Hemarthrosis involving upper arm Hemarthrosis of ankle and/or foot (disorder) Hemarthrosis of forearm Hemarthrosis of forearm (disorder) Hemarthrosis of hand Hemarthrosis of hand (disorder) Hemarthrosis of lower leg Hemarthrosis of lower leg (disorder) Hemarthrosis of shoulder Hemarthrosis of shoulder region (disorder) Hemarthrosis of the ankle and foot Hemarthrosis of the ankle and/or foot (disorder) Hemarthrosis of the forearm Hemarthrosis of the forearm (disorder) Hemarthrosis of the hand Hemarthrosis of the lower leg Hemarthrosis of the lower leg (disorder) Hemarthrosis of the pelvic region and thigh Hemarthrosis of the pelvic region and thigh (disorder) Hemarthrosis of the shoulder region (disorder) Hemarthrosis of the upper arm Hemarthrosis of the upper arm (disorder) Hemarthrosis of upper arm Hemarthrosis of upper arm (disorder) disease_ontology DOID:801 hemarthrosis Haemarthrosis of shoulder joint SNOMEDCT_2005_07_31:156583009 Haemarthrosis of the ankle and foot SNOMEDCT_2005_07_31:156589008 SNOMEDCT_2005_07_31:202401000 Haemarthrosis of the pelvic region and thigh SNOMEDCT_2005_07_31:202399006 Hemarthrosis involving ankle and foot ICD9CM_2006:719.17 Hemarthrosis involving forearm ICD9CM_2006:719.13 Hemarthrosis involving hand ICD9CM_2006:719.14 Hemarthrosis involving lower leg ICD9CM_2006:719.16 Hemarthrosis involving pelvic region and thigh ICD9CM_2006:719.15 Hemarthrosis involving shoulder region ICD9CM_2006:719.11 Hemarthrosis involving upper arm ICD9CM_2006:719.12 Hemarthrosis of ankle and/or foot (disorder) SNOMEDCT_2005_07_31:83195003 Hemarthrosis of forearm (disorder) SNOMEDCT_2005_07_31:15314004 Hemarthrosis of hand (disorder) SNOMEDCT_2005_07_31:27507004 Hemarthrosis of lower leg (disorder) SNOMEDCT_2005_07_31:35909004 Hemarthrosis of shoulder region (disorder) SNOMEDCT_2005_07_31:2602008 Hemarthrosis of the ankle and/or foot (disorder) SNOMEDCT_2005_07_31:267948008 Hemarthrosis of the forearm SNOMEDCT_2005_07_31:202398003 Hemarthrosis of the forearm (disorder) SNOMEDCT_2005_07_31:267945006 Hemarthrosis of the hand SNOMEDCT_2005_07_31:156586001 Hemarthrosis of the lower leg SNOMEDCT_2005_07_31:202400004 Hemarthrosis of the lower leg (disorder) SNOMEDCT_2005_07_31:267947003 Hemarthrosis of the pelvic region and thigh (disorder) SNOMEDCT_2005_07_31:267946007 Hemarthrosis of the shoulder region (disorder) SNOMEDCT_2005_07_31:202396004 Hemarthrosis of the upper arm SNOMEDCT_2005_07_31:202397008 Hemarthrosis of the upper arm (disorder) SNOMEDCT_2005_07_31:267944005 Hemarthrosis of upper arm (disorder) SNOMEDCT_2005_07_31:56179000 disease_ontology DOID:8011 metastatic fibrosarcoma true NCI:C6744 UMLS_CUI:C1334638 Mature teratoma of Pericardium disease_ontology DOID:8012 benign pericardial teratoma Mature teratoma of Pericardium NCI2004_11_17:C6744 NCI:C6983 UMLS_CUI:C1335322 squamous carcinoma of penis, Papillary type disease_ontology DOID:8013 penis papillary carcinoma squamous carcinoma of penis, Papillary type NCI2004_11_17:C6983 disease_ontology DOID:8014 ovarian dermoid cyst with corticotropin secreting adenoma true anaplastic ganglioglioma anaplastic ganglioglioma (morphologic abnormality) ganglioglioma, anaplastic (morphologic abnormality) disease_ontology DOID:8016 anaplastic ganglioglioma true anaplastic ganglioglioma NCI2004_11_17:C4717 anaplastic ganglioglioma (morphologic abnormality) SNOMEDCT_2005_07_31:134212004 ganglioglioma, anaplastic (morphologic abnormality) SNOMEDCT_2005_07_31:128912009 regional Urothelial carcinoma of the renal Pelvis and Ureter disease_ontology DOID:8018 renal pelvis and ureter regional transitional cell cancer true regional Urothelial carcinoma of the renal Pelvis and Ureter NCI2004_11_17:C8168 recurrent Urothelial carcinoma of the renal Pelvis and Ureter disease_ontology DOID:8019 renal pelvis and ureter recurrent transitional cell cancer true recurrent Urothelial carcinoma of the renal Pelvis and Ureter NCI2004_11_17:C8254 NCI:C4223 SNOMEDCT_US_2016_03_01:189745002 SNOMEDCT_US_2016_03_01:34550005 UMLS_CUI:C0334422 disease_ontology DOID:8020 glomangiomyoma Parafollicular cell carcinoma with Amyloid Stroma disease_ontology DOID:8021 medullary carcinoma with amyloid stroma true Parafollicular cell carcinoma with Amyloid Stroma NCI2004_11_17:C4193 A fibrosarcoma of soft tissue and sarcoma of liver that is located_in the liver. NCI:C5832 UMLS_CUI:C1333966 disease_ontology DOID:8022 liver fibrosarcoma A fibrosarcoma of soft tissue and sarcoma of liver that is located_in the liver. url:http://en.wikipedia.org/wiki/Fibrosarcoma NCI:C5235 UMLS_CUI:C1335170 Myxoid Liposarcoma of Ovary disease_ontology DOID:8023 myxoid liposarcoma of the ovary Myxoid Liposarcoma of Ovary NCI2004_11_17:C5235 disease_ontology Tuberculosis of male genital organs DOID:8024 male genital tuberculosis true NCI:C5250 UMLS_CUI:C1335965 Signet Ring cell adenocarcinoma of the stomach disease_ontology DOID:8025 gastric signet ring cell adenocarcinoma Signet Ring cell adenocarcinoma of the stomach NCI2004_11_17:C5250 gastric intestinal type adenocarcinoma disease_ontology DOID:8026 intestinal adenocarcinoma of the stomach true gastric intestinal type adenocarcinoma NCI2004_11_17:C9157 NCI:C7566 UMLS_CUI:C1336076 disease_ontology DOID:8029 sporadic breast cancer NCI:C6777 UMLS_CUI:C1335383 disease_ontology DOID:8030 periocular meningioma NCI:C6756 UMLS_CUI:C1335418 Pineal meningioma disease_ontology DOID:8031 pineal region meningioma Pineal meningioma NCI2004_11_17:C6756 An ovarian embryonal carcinoma that occurs in childhood. NCI:C6546 UMLS_CUI:C1332989 pediatric Embryonal carcinoma of Ovary disease_ontology childhood embryonal carcinoma of the ovary DOID:8036 childhood ovarian embryonal carcinoma An ovarian embryonal carcinoma that occurs in childhood. url:http://en.wikipedia.org/wiki/Embryonal_carcinoma#Ovarian_embryonal_carcinoma pediatric Embryonal carcinoma of Ovary NCI2004_11_17:C6546 NCI:C40962 UMLS_CUI:C1514200 Polyembryoma of testis disease_ontology DOID:8042 testis polyembryoma Polyembryoma of testis NCI2004_11_17:C40962 NCI:C6720 UMLS_CUI:C1332934 Parachordoma of the Chest Wall disease_ontology DOID:8043 chest wall parachordoma Parachordoma of the Chest Wall NCI2004_11_17:C6720 recurrent prostate carcinoma disease_ontology DOID:8045 recurrent cancer of prostate true recurrent prostate carcinoma NCI2004_11_17:C7902 NCI:C39847 UMLS_CUI:C1511203 disease_ontology DOID:8050 bladder tubulo-cystic clear cell adenocarcinoma NCI:C39848 UMLS_CUI:C1511196 disease_ontology DOID:8051 bladder papillary clear cell adenocarcinoma A cancer of urethra that has recurred after it has been treated. The cancer may come back in the urethra or in other parts of the body. relapsed urethra carcinoma disease_ontology DOID:8055 recurrent urethral cancer true A cancer of urethra that has recurred after it has been treated. The cancer may come back in the urethra or in other parts of the body. url:http://www.cancer.gov/cancertopics/pdq/treatment/urethral/Patient/page3 relapsed urethra carcinoma NCI2004_11_17:C7508 MESH:D008579 NCI:C6771 UMLS_CUI:C1335107 meningioma of the Olfactory Groove disease_ontology DOID:8057 olfactory groove meningioma meningioma of the Olfactory Groove NCI2004_11_17:C6771 NCI:C5311 UMLS_CUI:C1335422 meningioma of the Pituitary Stalk disease_ontology DOID:8058 pituitary stalk meningioma meningioma of the Pituitary Stalk NCI2004_11_17:C5311 NCI:C6842 UMLS_CUI:C1333644 Inverted papilloma of the Frontal sinus disease_ontology DOID:8060 frontal sinus inverted papilloma Inverted papilloma of the Frontal sinus NCI2004_11_17:C6842 NCI:C40387 UMLS_CUI:C1512935 disease_ontology DOID:8068 intraductal breast myoepitheliosis ICD9CM:433.10 UMLS_CUI:C0375275 Occlusion and stenosis of carotid artery disease_ontology DOID:807 carotid artery occlusion NCI:C41620 UMLS_CUI:C1519184 disease_ontology DOID:8072 sarcomatous intrahepatic cholangiocarcinoma NCI:C27406 UMLS_CUI:C1332953 disease_ontology DOID:8078 childhood central nervous system germinoma disease_ontology DOID:8079 monomorphic T-cell PTLD true disease_ontology DOID:8080 ovarian mucinous cystic tumor associated with pseudomyxoma peritonei true NCI:C39929 UMLS_CUI:C1515309 disease_ontology DOID:8081 myxomatous pattern testicular yolk sac tumor NCI:C39815 UMLS_CUI:C1516474 disease_ontology DOID:8082 cellular congenital mesoblastic nephroma NCI:C39814 UMLS_CUI:C1516475 disease_ontology DOID:8083 classic congenital mesoblastic nephroma A human papilloma virus related cervical squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause papillary tumors with a transitional differentiation. disease_ontology DOID:8084 cervical squamotransitional carcinoma true A human papilloma virus related cervical squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause papillary tumors with a transitional differentiation. url:http://books.google.com/books?id=ab545XL-MBEC&pg=PA245&lpg#v=onepage&q&f=false disease_ontology DOID:8087 ovarian dermoid cyst with sebaceous carcinoma true Advanced adult primary Hepatocellular carcinoma disease_ontology DOID:8089 advanced adult primary hepatoma true Advanced adult primary Hepatocellular carcinoma NCI2004_11_17:C28302 A substance abuse that involves the recurring use of cocaine despite negative consequences. ICD10CM:F14.1 ICD9CM:305.6 ICD9CM:305.60 MESH:D019970 SNOMEDCT_US_2016_03_01:78267003 UMLS_CUI:C0009171 disease_ontology DOID:809 cocaine abuse A substance abuse that involves the recurring use of cocaine despite negative consequences. url:http://en.wikipedia.org/wiki/Cocaine_Abuse NCI:C6839 UMLS_CUI:C1334646 Schneiderian papilloma of the maxillary sinus disease_ontology DOID:8093 maxillary sinus Schneiderian papilloma Schneiderian papilloma of the maxillary sinus NCI2004_11_17:C6839 A human papilloma virus related cervical squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause warty malignant tumors in squamous epithelium of cervix. cervical Warty squamous cell carcinoma disease_ontology DOID:8094 cervical condylomatous squamous cell carcinoma true A human papilloma virus related cervical squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause warty malignant tumors in squamous epithelium of cervix. url:http://books.google.com/books?id=73QOP6Xqh6EC&pg=PA135&lpg#v=onepage&q&f=false url:http://www.ncbi.nlm.nih.gov/pubmed/12685182 cervical Warty squamous cell carcinoma NCI2004_11_17:C40191 NCI:C39839 UMLS_CUI:C1511192 disease_ontology DOID:8096 bladder mixed adenocarcinoma NCI:C39838 UMLS_CUI:C1511189 disease_ontology DOID:8097 bladder hepatoid adenocarcinoma A lipodystrophy and is_a Human immunodeficiency virus infectious disease that is characterized by loss of subcutaneous fat, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. Anti-retroviral medications are also associated with the disease. The infection has_symptom fat loss in face, buttocks, arms, legs. disease_ontology DOID:810 HIV-associated lipodystrophy syndrome true A lipodystrophy and is_a Human immunodeficiency virus infectious disease that is characterized by loss of subcutaneous fat, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. Anti-retroviral medications are also associated with the disease. The infection has_symptom fat loss in face, buttocks, arms, legs. url:http://en.wikipedia.org/wiki/Hiv-associated_lipodystrophy_syndrome NCI:C4160 SNOMEDCT_US_2016_03_01:30301008 UMLS_CUI:C0334328 Microfollicular adenoma (morphologic abnormality) disease_ontology DOID:8102 fetal adenoma Microfollicular adenoma (morphologic abnormality) SNOMEDCT_2005_07_31:30301008 NCI:C40258 UMLS_CUI:C1519933 disease_ontology DOID:8104 vaginal tubulovillous adenoma NCI:C5851 UMLS_CUI:C1333504 Cystadenoma of the extrahepatic bile duct disease_ontology DOID:8105 extrahepatic bile duct cystadenoma Cystadenoma of the extrahepatic bile duct NCI2004_11_17:C5851 NCI:C41237 UMLS_CUI:C1516553 disease_ontology DOID:8106 cellular phase chronic idiopathic myelofibrosis disease_ontology DOID:8107 S-T syndrome true NCI:C6170 UMLS_CUI:C1336884 urethral Fibroepithelial polyp disease_ontology DOID:8108 fibroepithelial polyp of urethra urethral Fibroepithelial polyp NCI2004_11_17:C6170 NCI:C7416 UMLS_CUI:C1336889 Nephrogenic adenoma of urethra disease_ontology DOID:8109 nephrogenic adenoma of the urethra Nephrogenic adenoma of urethra NCI2004_11_17:C7416 ICD10CM:E88.1 ICD9CM:272.6 MESH:D008060 NCI:C97093 SNOMEDCT_US_2016_03_01:190789006 SNOMEDCT_US_2016_03_01:190790002 SNOMEDCT_US_2016_03_01:71325002 UMLS_CUI:C0023787 disease_ontology DOID:811 lipodystrophy NCI:C27322 UMLS_CUI:C1335377 disease_ontology DOID:8110 periampullary adenocarcinoma disease_ontology DOID:8115 recurrent childhood cerebral astrocytoma true A central nervous system disease that is characterized by neuron inflammation. NCI:C34847 UMLS_CUI:C0027881 disease_ontology DOID:8117 neuronitis A central nervous system disease that is characterized by neuron inflammation. url:https://en.wikipedia.org/wiki/Neuroinflammation NCI:C5260 UMLS_CUI:C1334635 Mature teratoma of stomach disease_ontology DOID:8118 mature gastric teratoma Mature teratoma of stomach NCI2004_11_17:C5260 NCI:C7477 UMLS_CUI:C1332261 Paget's disease of the anal canal anal canal Paget disease disease_ontology Paget's disease of anal canal DOID:8119 anal canal Paget's disease Paget's disease of the anal canal NCI2004_11_17:C7477 adenocarcinoma in villous adenoma (morphologic abnormality) villous adenoma or adenocarcinoma NOS (morphologic abnormality) villous adenomas and adenocarcinomas (morphologic abnormality) disease_ontology DOID:8120 adenocarcinoma in villous adenoma true adenocarcinoma in villous adenoma (morphologic abnormality) SNOMEDCT_2005_07_31:189626003 adenocarcinoma in villous adenoma (morphologic abnormality) SNOMEDCT_2005_07_31:36087009 villous adenoma or adenocarcinoma NOS (morphologic abnormality) SNOMEDCT_2005_07_31:189627007 villous adenomas and adenocarcinomas (morphologic abnormality) SNOMEDCT_2005_07_31:189624000 metastatic extraskeletal Ewing's sarcoma disease_ontology DOID:8121 metastatic extra-osseous Ewing's sarcoma true metastatic extraskeletal Ewing's sarcoma NCI2004_11_17:C8801 NCI:C27542 UMLS_CUI:C1335974 disease_ontology DOID:8122 pseudovascular skin squamous cell carcinoma An ischemic bone disease that results_in necrosis followed by regrowth in children and teens located_in bone. DOID:7490 ICD10CM:M92 ICD10CM:M93.9 ICD9CM:732.6 MESH:D055034 NCI:C34879 SNOMEDCT_US_2016_03_01:123256004 SNOMEDCT_US_2016_03_01:156822009 SNOMEDCT_US_2016_03_01:19579005 SNOMEDCT_US_2016_03_01:203398006 SNOMEDCT_US_2016_03_01:268125000 SNOMEDCT_US_2016_03_01:65477003 UMLS_CUI:C0029429 UMLS_CUI:C0158445 (Osteochondrosis NOS) or (apophysitis NOS) or (epiphysitis NOS) or (osteochondritis NOS) Epiphyseal necrosis, NOS Osteochondrosis not specified as adult or juvenile, of unspecified site osteochondritis juvenilis disease_ontology DOID:8125 osteochondrosis An ischemic bone disease that results_in necrosis followed by regrowth in children and teens located_in bone. url:http://medical-dictionary.thefreedictionary.com/osteochondrosis url:http://www.medcyclopaedia.com/library/topics/volume_iii_1/o/osteochondrosis.aspx (Osteochondrosis NOS) or (apophysitis NOS) or (epiphysitis NOS) or (osteochondritis NOS) SNOMEDCT_2005_07_31:268125000 Epiphyseal necrosis, NOS SNOMEDCT_2005_07_31:65477003 Osteochondrosis not specified as adult or juvenile, of unspecified site MTHICD9_2006:732.9 An arthritis that involves infection by a pathogen located_in joint. DOID:10920 DOID:12314 DOID:14519 DOID:1683 DOID:2002 DOID:2003 DOID:812 ICD10CM:M00 ICD10CM:M00.9 ICD9CM:711.0 ICD9CM:711.9 ICD9CM:711.90 ICD9CM:711.91 ICD9CM:711.92 ICD9CM:711.93 ICD9CM:711.94 ICD9CM:711.95 ICD9CM:711.96 ICD9CM:711.97 MESH:D001170 NCI:C26700 SNOMEDCT_US_2016_03_01:156470005 SNOMEDCT_US_2016_03_01:196415003 SNOMEDCT_US_2016_03_01:201455003 SNOMEDCT_US_2016_03_01:201471003 SNOMEDCT_US_2016_03_01:201591007 SNOMEDCT_US_2016_03_01:201592000 SNOMEDCT_US_2016_03_01:201593005 SNOMEDCT_US_2016_03_01:201594004 SNOMEDCT_US_2016_03_01:201595003 SNOMEDCT_US_2016_03_01:201596002 SNOMEDCT_US_2016_03_01:201597006 SNOMEDCT_US_2016_03_01:201598001 SNOMEDCT_US_2016_03_01:201599009 SNOMEDCT_US_2016_03_01:201623005 SNOMEDCT_US_2016_03_01:239776008 SNOMEDCT_US_2016_03_01:371412008 SNOMEDCT_US_2016_03_01:372938004 SNOMEDCT_US_2016_03_01:372939007 SNOMEDCT_US_2016_03_01:396234004 SNOMEDCT_US_2016_03_01:428437005 SNOMEDCT_US_2016_03_01:48548006 SNOMEDCT_US_2016_03_01:55388007 SNOMEDCT_US_2016_03_01:83486002 UMLS_CUI:C0003869 UMLS_CUI:C0157843 UMLS_CUI:C0157844 UMLS_CUI:C0157845 UMLS_CUI:C0157846 UMLS_CUI:C0157847 UMLS_CUI:C0157848 UMLS_CUI:C0157849 infectious arthritis disease_ontology DOID:813 septic arthritis An arthritis that involves infection by a pathogen located_in joint. url:http://emedicine.medscape.com/article/236299-overview url:http://en.wikipedia.org/wiki/Septic_arthritis url:http://www.hmc.psu.edu/healthinfo/s/septicarthritis.htm url:http://www.mayoclinic.com/health/bone-and-joint-infections/DS00545 url:http://www.nlm.nih.gov/medlineplus/ency/article/000430.htm NCI:C40355 UMLS_CUI:C1511305 disease_ontology DOID:8130 breast columnar cell mucinous carcinoma disease_ontology DOID:8131 sclerosing mucoepidermoid thyroid carcinoma with eosinophilia true DOID:8132 DOID:8896 ICD10CM:C10.1 ICD9CM:146.4 NCI:C35697 NCI:C4836 SNOMEDCT_US_2016_03_01:187681002 SNOMEDCT_US_2016_03_01:187684005 SNOMEDCT_US_2016_03_01:187849008 SNOMEDCT_US_2016_03_01:308120004 SNOMEDCT_US_2016_03_01:93670003 SNOMEDCT_US_2016_03_01:93784003 UMLS_CUI:C0496765 UMLS_CUI:C0585946 UMLS_CUI:C1112382 epiglottic cancer malignant neoplasm of anterior aspect of epiglottis malignant neoplasm of anterior epiglottis (disorder) malignant neoplasm of anterior epiglottis NOS (disorder) malignant neoplasm of anterior surface of epiglottis malignant neoplasm of epiglottis malignant neoplasm of epiglottis NOS (disorder) malignant tumor of Epiglottis disease_ontology DOID:8133 epiglottis cancer malignant neoplasm of anterior epiglottis (disorder) SNOMEDCT_2005_07_31:187681002 malignant neoplasm of anterior epiglottis NOS (disorder) SNOMEDCT_2005_07_31:187684005 malignant neoplasm of anterior surface of epiglottis MTH:U001374 malignant neoplasm of epiglottis SNOMEDCT_2005_07_31:93784003 malignant neoplasm of epiglottis NOS (disorder) SNOMEDCT_2005_07_31:308120004 malignant tumor of Epiglottis NCI2004_11_17:C4836 NCI:C5734 UMLS_CUI:C1333748 Lymphoma of the gallbladder disease_ontology DOID:8135 gallbladder lymphoma Lymphoma of the gallbladder NCI2004_11_17:C5734 ureteral transitional cell carcinoma with mixed differentiation disease_ontology DOID:8136 transitional cell carcinoma of the ureter with mixed differentiation true ureteral transitional cell carcinoma with mixed differentiation NCI2004_11_17:C6158 NCI:C6462 UMLS_CUI:C1333069 Clear cell carcinoma of the Thymus disease_ontology DOID:8137 thymus clear cell carcinoma Clear cell carcinoma of the Thymus NCI2004_11_17:C6462 NCI:C6463 UMLS_CUI:C1335924 Thymic Carcinosarcoma disease_ontology DOID:8138 thymus sarcomatoid carcinoma Thymic Carcinosarcoma NCI2004_11_17:C6463 NCI:C7646 UMLS_CUI:C1332176 disease_ontology DOID:8140 adrenal gland ganglioneuroblastoma NCI:C37204 UMLS_CUI:C1333038 CLL/SLL with Unmutated IGVH disease_ontology DOID:8144 pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma CLL/SLL with Unmutated IGVH NCI2004_11_17:C37204 metastatic tumor to the gallbladder secondary malignant neoplasm of gallbladder (disorder) disease_ontology DOID:8145 metastatic neoplasm to the gallbladder true metastatic tumor to the gallbladder NCI2004_11_17:C7482 secondary malignant neoplasm of gallbladder (disorder) SNOMEDCT_2005_07_31:94312000 Undifferentiated secondary Supratentorial astrocytoma disease_ontology DOID:8146 anaplastic secondary supratentorial astrocytic neoplasm true Undifferentiated secondary Supratentorial astrocytoma NCI2004_11_17:C5416 recurrent childhood malignant germ cell neoplasm disease_ontology DOID:8148 recurrent childhood malignant germ cell tumor true recurrent childhood malignant germ cell neoplasm NCI2004_11_17:C9221 NCI:C6541 UMLS_CUI:C1334574 malignant pediatric germ cell tumor disease_ontology DOID:8149 malignant childhood germ cell neoplasm malignant pediatric germ cell tumor NCI2004_11_17:C6541 NCI:C5726 UMLS_CUI:C1518871 disease_ontology DOID:8150 pancreatic invasive intraductal papillary-mucinous carcinoma NCI:C27445 UMLS_CUI:C3274138 malignant appendiceal L-cell glucagon-like peptide producing tumor malignant appendiceal glucagonoma disease_ontology DOID:8151 appendiceal L-cell glucagon-like peptide producing tumor adenocarcinoma of the Distal 1/3 of the Common bile duct disease_ontology DOID:8152 distal 1/3 of common bile duct adenocarcinoma true adenocarcinoma of the Distal 1/3 of the Common bile duct NCI2004_11_17:C7976 NCI:C6573 UMLS_CUI:C1333612 Fibroosseous Digital Pseudotumor disease_ontology DOID:8153 fibroosseous pseudotumor of digits Fibroosseous Digital Pseudotumor NCI2004_11_17:C6573 NCI:C9469 OMIM:609536 ORDO:169150 C5 deficiency disease_ontology DOID:8158 OMIM mapping confirmed by DO. [SN]. complement component 5 deficiency A desmoplastic small round-cell tumor that primarily is located_in the abdomen. disease_ontology DOID:8160 adult desmoplastic small round cell tumor true A desmoplastic small round-cell tumor that primarily is located_in the abdomen. url:http://en.wikipedia.org/wiki/Desmoplastic_small_round_cell_tumor MESH:C536913 NCI:C4946 OMIM:607464 SNOMEDCT_US_2016_03_01:423158009 UMLS_CUI:C0749424 oncocytic carcinoma of the thyroid disease_ontology DOID:8161 OMIM mapping confirmed by DO. [LS]. thyroid Hurthle cell carcinoma oncocytic carcinoma of the thyroid NCI2004_11_17:C4946 NCI:C6042 UMLS_CUI:C1336750 benign oncocytoma of the thyroid disease_ontology DOID:8162 thyroid Hurthle cell adenoma benign oncocytoma of the thyroid NCI2004_11_17:C6042 gallbladder carcinoma Unresectable disease_ontology DOID:8163 gallbladder cancer unresectable true gallbladder carcinoma Unresectable NCI2004_11_17:C7890 NCI:C5735 UMLS_CUI:C1333749 malignant melanoma of gallbladder disease_ontology DOID:8167 gallbladder melanoma malignant melanoma of gallbladder NCI2004_11_17:C5735 NCI:C35786 SNOMEDCT_US_2016_03_01:37925008 UMLS_CUI:C0027060 Interstitial myocarditis (disorder) disease_ontology DOID:817 interstitial myocarditis Interstitial myocarditis (disorder) SNOMEDCT_2005_07_31:37925008 NCI:C5604 Fibroepithelial polyp of anus disease_ontology DOID:8170 fibroepithelial polyp of the anus Fibroepithelial polyp of anus NCI2004_11_17:C5604 NCI:C40232 UMLS_CUI:C1516405 disease_ontology DOID:8177 endocervical type cervical adenomyoma NCI:C40233 UMLS_CUI:C1516406 disease_ontology DOID:8178 endometrial type cervical adenomyoma NCI:C40234 UMLS_CUI:C1516409 disease_ontology DOID:8179 cervical atypical polypoid adenomyoma NCI:C6278 UMLS_CUI:C1333593 Gestational Choriocarcinoma of the fallopian tube disease_ontology DOID:8186 fallopian tube gestational choriocarcinoma Gestational Choriocarcinoma of the fallopian tube NCI2004_11_17:C6278 disease_ontology DOID:8187 gestational uterine corpus choriocarcinoma NCI:C27246 UMLS_CUI:C1336904 disease_ontology DOID:8188 uterine corpus choriocarcinoma ICD10CM:J98.5 ICD9CM:519.2 MESH:D008480 NCI:C26827 SNOMEDCT_US_2016_03_01:47597000 UMLS_CUI:C0025064 disease_ontology DOID:819 mediastinitis recurrent Vulvar carcinoma disease_ontology DOID:8192 recurrent vulva cancer true recurrent Vulvar carcinoma NCI2004_11_17:C9054 NCI:C39928 UMLS_CUI:C1515310 disease_ontology DOID:8193 papillary pattern testicular yolk sac tumor recurrent pediatric Hepatocellular carcinoma disease_ontology DOID:8194 recurrent pediatric hepatoma true recurrent pediatric Hepatocellular carcinoma NCI2004_11_17:C9046 NCI:C39931 UMLS_CUI:C1515306 disease_ontology DOID:8195 hepatoid pattern testicular yolk sac tumor disease_ontology DOID:8197 ovarian dermoid cyst with melanoma true Syphilis of synovium, tendon or bursa (disorder) Syphilis of synovium, tendon or bursa NOS (disorder) Syphilis of synovium, tendon, and bursa disease_ontology DOID:8199 bursa syphilis true Syphilis of synovium, tendon or bursa (disorder) SNOMEDCT_2005_07_31:186899004 Syphilis of synovium, tendon or bursa NOS (disorder) SNOMEDCT_2005_07_31:186900009 Syphilis of synovium, tendon, and bursa ICD9CM_2006:095.7 ICD9CM:366.43 NCI:C34833 SNOMEDCT_US_2016_03_01:64741003 UMLS_CUI:C0027128 disease_ontology DOID:82 myotonic cataract An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle. ICD10CM:I51.4 ICD9CM:429.0 KEGG:05416 MESH:D009205 NCI:C34831 SNOMEDCT_US_2016_03_01:155380004 SNOMEDCT_US_2016_03_01:195119007 SNOMEDCT_US_2016_03_01:251060004 SNOMEDCT_US_2016_03_01:50920009 UMLS_CUI:C0027059 Myocardial inflammation (finding) disease_ontology DOID:820 myocarditis An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle. url:http://en.wikipedia.org/wiki/Myocarditis Myocardial inflammation (finding) SNOMEDCT_2005_07_31:251060004 A syphilis that is characterized as the third stage of syphilis that develops after the disappearance of the secondary symptoms and is marked by ulcers and gummas under the skin and commonly by involvement of the skeletal, cardiovascular, and nervous systems. ICD10CM:A52 ICD10CM:A52.3 ICD10CM:A52.9 ICD9CM:097.0 MESH:C536774 SNOMEDCT_US_2016_03_01:186905004 SNOMEDCT_US_2016_03_01:187358009 SNOMEDCT_US_2016_03_01:276200006 SNOMEDCT_US_2016_03_01:72083004 UMLS_CUI:C0153188 late syphilis disease_ontology DOID:8200 tertiary syphilis A syphilis that is characterized as the third stage of syphilis that develops after the disappearance of the secondary symptoms and is marked by ulcers and gummas under the skin and commonly by involvement of the skeletal, cardiovascular, and nervous systems. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=tertiary+syphilis NCI:C5299 UMLS_CUI:C1335893 meningioma of the Sacral Spinal canal and Spinal Cord disease_ontology DOID:8203 sacral spinal canal and spinal cord meningioma meningioma of the Sacral Spinal canal and Spinal Cord NCI2004_11_17:C5299 disease_ontology DOID:8205 alloimmunization true NCI:C7454 UMLS_CUI:C1334445 disease_ontology DOID:8207 hilar lung carcinoma NCI:C7779 UMLS_CUI:C1336529 Superior Sulcus carcinoma of the lung disease_ontology superior sulcus carcinoma of lung DOID:8208 lung superior sulcus carcinoma Superior Sulcus carcinoma of the lung NCI2004_11_17:C7779 NCI:C40114 UMLS_CUI:C1517111 disease_ontology DOID:8211 fallopian tube cystadenofibroma NCI:C5303 UMLS_CUI:C1335345 disease_ontology DOID:8216 parapharyngeal meningioma relapsed epithelioid sarcoma disease_ontology DOID:8219 recurrent epithelioid sarcoma true relapsed epithelioid sarcoma NCI2004_11_17:C5059 recurrent extraskeletal Ewing's sarcoma disease_ontology DOID:8220 recurrent extraosseous Ewing's sarcoma true recurrent extraskeletal Ewing's sarcoma NCI2004_11_17:C8803 NCI:C5290 UMLS_CUI:C1336871 meningioma of the Upper Clivus disease_ontology DOID:8221 upper clivus meningioma meningioma of the Upper Clivus NCI2004_11_17:C5290 adenocarcinoma in tubular adenoma disease_ontology DOID:8222 adenocarcinoma in tubular adenoma true adenocarcinoma in tubular adenoma SNOMEDCT_2005_07_31:43233001 NCI:C39868 UMLS_CUI:C1518950 disease_ontology DOID:8223 penile urethral cancer DOID:8226 NCI:C36087 UMLS_CUI:C1332896 large duct breast papilloma solitary intraductal breast papilloma disease_ontology DOID:8224 central breast papilloma large duct breast papilloma NCI2004_11_17:C36087 NCI:C36088 UMLS_CUI:C1335390 disease_ontology DOID:8225 microscopic breast papilloma NCI:C36089 UMLS_CUI:C1332346 disease_ontology DOID:8227 atypical breast papilloma metastatic extraskeletal Osteogenic sarcoma disease_ontology DOID:8228 metastatic extraskeletal osteosarcoma true metastatic extraskeletal Osteogenic sarcoma NCI2004_11_17:C8808 disease_ontology DOID:8229 metastatic small intestinal adenocarcinoma true ICD10CM:K04.5 MESH:D010485 SNOMEDCT_US_2016_03_01:39273001 UMLS_CUI:C0031030 Apical periodontitis (disorder) Apical periodontitis NOS disease_ontology DOID:823 periapical periodontitis Apical periodontitis (disorder) SNOMEDCT_2005_07_31:39273001 Apical periodontitis NOS MTHICD9_2006:522.6 NCI:C7125 UMLS_CUI:C1334258 disease_ontology DOID:8230 intrahepatic biliary papillomatosis NCI:C6508 SNOMEDCT_US_2016_03_01:28655007 UMLS_CUI:C1370890 Inflammatory liposarcoma disease_ontology DOID:8233 inflammatory liposarcoma Inflammatory liposarcoma SNOMEDCT_2005_07_31:28655007 relapsed malignant hemangiopericytoma disease_ontology DOID:8234 malignant hemangiopericytoma recurrent true relapsed malignant hemangiopericytoma NCI2004_11_17:C9254 stage IV cancer of Uterus disease_ontology DOID:8238 metastatic endometrial carcinoma true stage IV cancer of Uterus NCI2004_11_17:C4006 NCI:C5288 UMLS_CUI:C1334434 meningioma of the lower Clivus disease_ontology DOID:8239 lower clivus meningioma meningioma of the lower Clivus NCI2004_11_17:C5288 EFO:0000649 ICD10CM:K05.3 MESH:D010518 NCI:C34918 SNOMEDCT_US_2016_03_01:155648008 SNOMEDCT_US_2016_03_01:266491004 SNOMEDCT_US_2016_03_01:41565005 UMLS_CUI:C0031099 chronic pericementitis disease_ontology DOID:824 periodontitis chronic pericementitis MTHICD9_2006:523.4 NCI:C6891 SNOMEDCT_US_2016_03_01:128731008 UMLS_CUI:C1266114 Leptomeningeal melanomatosis Meningeal melanomatosis (morphologic abnormality) disease_ontology DOID:8243 meningeal melanomatosis Leptomeningeal melanomatosis NCI2004_11_17:C6891 Meningeal melanomatosis (morphologic abnormality) SNOMEDCT_2005_07_31:128731008 recurrent Neuroepithelioma of bone disease_ontology DOID:8244 bone recurrent PNET true recurrent Neuroepithelioma of bone NCI2004_11_17:C27354 disease_ontology DOID:8246 breast myoid hamartoma true NCI:C27369 UMLS_CUI:C1332211 disease_ontology DOID:8251 adult pleomorphic rhabdomyosarcoma A rhinitis which is persistent and long-lasting. It may occur with diseases such as syphilis, tuberculosis, rhinoscleroma, rhinosporidiosis, leishmaniasis, blastomycosis, histoplasmosis, and leprosy, all of which are characterized by the formation of inflamed lesions (granulomas) and the destruction of soft tissue, cartilage, and bone. Chronic rhinitis causes nasal obstruction, pus-filled discharge from the nose, and frequent bleeding. ICD10CM:J31.0 ICD9CM:472.0 NCI:C34479 SNOMEDCT_US_2016_03_01:155522005 SNOMEDCT_US_2016_03_01:195764003 SNOMEDCT_US_2016_03_01:195774000 SNOMEDCT_US_2016_03_01:270532004 SNOMEDCT_US_2016_03_01:86094006 UMLS_CUI:C0008711 Rhinitis - chronic disease_ontology DOID:8252 chronic rhinitis A rhinitis which is persistent and long-lasting. It may occur with diseases such as syphilis, tuberculosis, rhinoscleroma, rhinosporidiosis, leishmaniasis, blastomycosis, histoplasmosis, and leprosy, all of which are characterized by the formation of inflamed lesions (granulomas) and the destruction of soft tissue, cartilage, and bone. Chronic rhinitis causes nasal obstruction, pus-filled discharge from the nose, and frequent bleeding. url:http://www.merck.com/mmhe/sec19/ch221/ch221g.html?qt=chronic%20rhinitis&alt=sh Rhinitis - chronic SNOMEDCT_2005_07_31:270532004 NCI:C6857 UMLS_CUI:C1336978 Vulval Fibroepithelial polyp disease_ontology DOID:8255 vulva fibroepithelial polyp Vulval Fibroepithelial polyp NCI2004_11_17:C6857 disease_ontology DOID:8256 olfactory neural tumor ureteral transitional cell carcinoma with squamous differentiation disease_ontology DOID:8257 transitional cell carcinoma of the ureter with squamous differentiation true ureteral transitional cell carcinoma with squamous differentiation NCI2004_11_17:C6156 NCI:C39869 UMLS_CUI:C1511339 disease_ontology DOID:8259 bulbomembranous urethral cancer adenocarcinoma in adenomatous polyposis Coli adenocarcinoma in adenomatous polyposis coli (morphologic abnormality) disease_ontology DOID:8269 adenocarcinoma in adenomatous polyposis coli true adenocarcinoma in adenomatous polyposis Coli NCI2004_11_17:C4134 adenocarcinoma in adenomatous polyposis coli (morphologic abnormality) SNOMEDCT_2005_07_31:57513006 An urogenital tuberculosis that is located_in ureter resulting in ureteral strictures. ICD9CM:016.2 SNOMEDCT_US_2016_03_01:81359005 UMLS_CUI:C0152800 tuberculosis of ureter disease_ontology DOID:827 ureter tuberculosis An urogenital tuberculosis that is located_in ureter resulting in ureteral strictures. url:http://emedicine.medscape.com/article/450651-overview NCI:C7641 UMLS_CUI:C0279930 Anterior urethral malignant tumor disease_ontology DOID:8272 anterior urethra cancer Anterior urethral malignant tumor NCI2004_11_17:C7641 NCI:C6525 UMLS_CUI:C1336546 hemangioma of Synovium disease_ontology DOID:8274 synovial angioma hemangioma of Synovium NCI2004_11_17:C6525 An embryonal testis carcinoma that is located within a tubule. NCI:C7325 UMLS_CUI:C1336096 disease_ontology DOID:8275 intratubular embryonal carcinoma An embryonal testis carcinoma that is located within a tubule. url:http://www.ncbi.nlm.nih.gov/pubmed/11900581 Hodgkin's-like PTLD disease_ontology DOID:8276 Hodgkin-like posttransplantation lymphoproliferative disease true Hodgkin's-like PTLD NCI2004_11_17:C7239 relapsed MPNST disease_ontology DOID:8281 recurrent malignant peripheral nerve sheath neoplasm true relapsed MPNST NCI2004_11_17:C8823 NCI:C7944 UMLS_CUI:C0279545 disease_ontology DOID:8282 adult epithelioid sarcoma A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. Peritonitis can also result from appendicitis, diverticulitis, strangulating intestinal obstruction, pancreatitis, pelvic inflammatory disease, mesenteric ischemia, intraperitoneal blood, barium, or peritoneo-systemic shunts, drains, and dialysis catheters in the peritoneal cavity. The symptoms include abdominal pain and tenderness, fever, fluid in the abdomen, nausea, vomiting and low urine output. DOID:8694 DOID:8863 DOID:9233 ICD9CM:567.8 ICD9CM:567.89 SNOMEDCT_US_2016_03_01:197183001 SNOMEDCT_US_2016_03_01:197187000 UMLS_CUI:C0029823 Retractile mesenteritis Retractile mesenteritis (disorder) acute generalized peritonitis acute generalized peritonitis (disorder) primary bacterial peritonitis (disorder) sclerosing mesenteritis disease_ontology DOID:8283 peritonitis A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. Peritonitis can also result from appendicitis, diverticulitis, strangulating intestinal obstruction, pancreatitis, pelvic inflammatory disease, mesenteric ischemia, intraperitoneal blood, barium, or peritoneo-systemic shunts, drains, and dialysis catheters in the peritoneal cavity. The symptoms include abdominal pain and tenderness, fever, fluid in the abdomen, nausea, vomiting and low urine output. url:http://www.merck.com/mmpe/sec02/ch011/ch011b.html#sec02-ch011-ch011b-402 url:http://www.nlm.nih.gov/medlineplus/ency/article/001335.htm Retractile mesenteritis MTHICD9_2006:567.82 Retractile mesenteritis (disorder) SNOMEDCT_2005_07_31:86422009 acute generalized peritonitis (disorder) SNOMEDCT_2005_07_31:52890006 primary bacterial peritonitis (disorder) SNOMEDCT_2005_07_31:11836002 Non-metastatic epithelioid cell sarcoma disease_ontology DOID:8285 nonmetastatic epithelioid sarcoma true Non-metastatic epithelioid cell sarcoma NCI2004_11_17:C8800 metastatic epithelioid cell sarcoma disease_ontology DOID:8286 metastatic epithelioid sarcoma true metastatic epithelioid cell sarcoma NCI2004_11_17:C8799 Multiple Chondromatous hamartoma of the lung disease_ontology DOID:8287 Multiple Chondromatous hamartoma of lung true Multiple Chondromatous hamartoma of the lung NCI2004_11_17:C5663 NCI:C4459 SNOMEDCT_US_2016_03_01:254652000 UMLS_CUI:C0345978 Clear cell squamous cell carcinoma of skin (disorder) Clear cell squamous cell skin carcinoma disease_ontology DOID:8288 clear cell squamous cell skin carcinoma Clear cell squamous cell carcinoma of skin (disorder) SNOMEDCT_2005_07_31:254652000 Clear cell squamous cell skin carcinoma NCI2004_11_17:C4459 disease_ontology DOID:8289 breast adenolipoma true DOID:10213 DOID:12248 DOID:13796 DOID:14024 DOID:14158 DOID:2008 DOID:2009 DOID:828 Crystal arthropathy NOS, of multiple sites (disorder) Crystal arthropathy NOS, of the ankle and foot (disorder) Crystal arthropathy NOS, of the forearm (disorder) Crystal arthropathy NOS, of the hand (disorder) Crystal arthropathy NOS, of the lower leg (disorder) Crystal arthropathy NOS, of the pelvic region and thigh Crystal arthropathy NOS, of the pelvic region and thigh (disorder) Crystal arthropathy NOS, of the shoulder region (disorder) Crystal arthropathy NOS, of the upper arm (disorder) Crystal arthropathy of ankle and/or foot Crystal arthropathy of ankle and/or foot (disorder) Crystal arthropathy of forearm Crystal arthropathy of forearm (disorder) Crystal arthropathy of hand Crystal arthropathy of hand (disorder) Crystal arthropathy of lower leg Crystal arthropathy of lower leg (disorder) Crystal arthropathy of multiple sites Crystal arthropathy of multiple sites (disorder) Crystal arthropathy of shoulder region Crystal arthropathy of shoulder region (disorder) Crystal arthropathy of upper arm Crystal arthropathy of upper arm (disorder) Unspecified crystal arthropathy involving ankle and foot Unspecified crystal arthropathy involving forearm Unspecified crystal arthropathy involving hand Unspecified crystal arthropathy involving lower leg Unspecified crystal arthropathy involving multiple sites Unspecified crystal arthropathy involving pelvic region and thigh Unspecified crystal arthropathy involving shoulder region Unspecified crystal arthropathy involving upper arm disease_ontology DOID:829 crystal arthropathy true Crystal arthropathy NOS, of multiple sites (disorder) SNOMEDCT_2005_07_31:201719005 Crystal arthropathy NOS, of the ankle and foot (disorder) SNOMEDCT_2005_07_31:201695007 Crystal arthropathy NOS, of the forearm (disorder) SNOMEDCT_2005_07_31:201691003 Crystal arthropathy NOS, of the hand (disorder) SNOMEDCT_2005_07_31:201692005 Crystal arthropathy NOS, of the lower leg (disorder) SNOMEDCT_2005_07_31:201694006 Crystal arthropathy NOS, of the pelvic region and thigh (disorder) SNOMEDCT_2005_07_31:201693000 Crystal arthropathy NOS, of the shoulder region (disorder) SNOMEDCT_2005_07_31:201689006 Crystal arthropathy NOS, of the upper arm (disorder) SNOMEDCT_2005_07_31:201690002 Crystal arthropathy of ankle and/or foot (disorder) SNOMEDCT_2005_07_31:75468006 Crystal arthropathy of forearm (disorder) SNOMEDCT_2005_07_31:22469005 Crystal arthropathy of hand (disorder) SNOMEDCT_2005_07_31:26241001 Crystal arthropathy of lower leg (disorder) SNOMEDCT_2005_07_31:21757001 Crystal arthropathy of multiple sites (disorder) SNOMEDCT_2005_07_31:20075001 Crystal arthropathy of shoulder region (disorder) SNOMEDCT_2005_07_31:34427002 Crystal arthropathy of upper arm (disorder) SNOMEDCT_2005_07_31:46237005 Unspecified crystal arthropathy involving ankle and foot ICD9CM_2006:712.97 Unspecified crystal arthropathy involving forearm ICD9CM_2006:712.93 Unspecified crystal arthropathy involving hand ICD9CM_2006:712.94 Unspecified crystal arthropathy involving lower leg ICD9CM_2006:712.96 Unspecified crystal arthropathy involving multiple sites ICD9CM_2006:712.99 Unspecified crystal arthropathy involving pelvic region and thigh ICD9CM_2006:712.95 Unspecified crystal arthropathy involving shoulder region ICD9CM_2006:712.91 Unspecified crystal arthropathy involving upper arm ICD9CM_2006:712.92 NCI:C27729 SNOMEDCT_US_2016_03_01:128892009 UMLS_CUI:C1266046 Atypical Follicular adenoma Atypical follicular adenoma (morphologic abnormality) disease_ontology DOID:8292 atypical follicular adenoma Atypical Follicular adenoma NCI2004_11_17:C27729 Atypical follicular adenoma (morphologic abnormality) SNOMEDCT_2005_07_31:128892009 A mite infestation that is a contagious ectoparasite skin infection caused by human itch mite Sarcoptes scabiei type hominis, which burrows into the upper layer of the skin but never below the stratum corneum causing severe itching and a rash found on the hands, folds of the wrist, elbow or knee, penis, breast, and shoulder blades. ICD10CM:B86 ICD9CM:133.0 MESH:D012532 NCI:C34998 SNOMEDCT_US_2016_03_01:128869009 SNOMEDCT_US_2016_03_01:154422001 SNOMEDCT_US_2016_03_01:187215008 SNOMEDCT_US_2016_03_01:266224002 SNOMEDCT_US_2016_03_01:67172004 UMLS_CUI:C0036262 Infestation by Sarcoptes scabiei Infestation by Sarcoptes scabiei var hominis Sarcoptic itch disease_ontology DOID:8295 scabies A mite infestation that is a contagious ectoparasite skin infection caused by human itch mite Sarcoptes scabiei type hominis, which burrows into the upper layer of the skin but never below the stratum corneum causing severe itching and a rash found on the hands, folds of the wrist, elbow or knee, penis, breast, and shoulder blades. url:http://www.dpd.cdc.gov/dpdx/HTML/Scabies.htm Infestation by Sarcoptes scabiei MTHICD9_2006:133.0 Infestation by Sarcoptes scabiei var hominis SNOMEDCT_2005_07_31:128869009 Sarcoptic itch SNOMEDCT_2005_07_31:187215008 A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision. ICD10CM:H26 ICD9CM:366.8 MESH:D002386 OMIM:601371 SNOMEDCT_US_2016_03_01:193620000 SNOMEDCT_US_2016_03_01:193622008 UMLS_CUI:C0029531 disease_ontology DOID:83 Xref MGI. cataract A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision. url:http://en.wikipedia.org/wiki/Cataract url:http://www.ncbi.nlm.nih.gov/pubmed/10414631 url:http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001996/ NCI:C40178 UMLS_CUI:C1513364 Stromomyoma disease_ontology DOID:8302 mixed endometrial stromal and smooth muscle tumor Stromomyoma NCI2004_11_17:C40178 disease_ontology DOID:8303 congenital granular cell tumor NCI:C6584 UMLS_CUI:C1335295 Palisaded Myofibroblastoma of the Lymph Node disease_ontology DOID:8304 lymph node palisaded myofibroblastoma Palisaded Myofibroblastoma of the Lymph Node NCI2004_11_17:C6584 NCI:C6583 UMLS_CUI:C1335063 Nonossifying Fibromyxoma disease_ontology DOID:8305 nonossifying fibromyxoid tumor Nonossifying Fibromyxoma NCI2004_11_17:C6583 NCI:C36096 UMLS_CUI:C1333369 disease_ontology DOID:8307 early invasive cervical adenocarcinoma metastatic carcinoma from the small Intestine disease_ontology DOID:8309 metastatic carcinoma from the small bowel true metastatic carcinoma from the small Intestine NCI2004_11_17:C8637 NCI:C5205 SNOMEDCT_US_2016_03_01:105261000119101 UMLS_CUI:C1335931 Sclerosing breast Adenosis disease_ontology DOID:8310 sclerosing adenosis of breast Sclerosing breast Adenosis NCI2004_11_17:C5205 Resectable carcinoma of the Small Bowel disease_ontology DOID:8329 resectable small intestine carcinoma true Resectable carcinoma of the Small Bowel NCI2004_11_17:C8639 An organ system cancer located_in the ear and characterized by uncontrolled cellular proliferation of the auditory organs. MESH:D004428 NCI:C3000 SNOMEDCT_US_2016_03_01:363228008 UMLS_CUI:C0013449 disease_ontology DOID:833 auditory system cancer An organ system cancer located_in the ear and characterized by uncontrolled cellular proliferation of the auditory organs. url:http://en.wikipedia.org/wiki/Ear url:http://www.buzzle.com/articles/ear-cancer.html NCI:C6526 UMLS_CUI:C1335382 disease_ontology DOID:8331 perineural angioma disease_ontology DOID:8334 testicular intratubular germ cell neoplasia with extratubular extension true NCI:C5199 UMLS_CUI:C1334753 disease_ontology DOID:8335 microglandular adenosis of breast NCI:C6549 UMLS_CUI:C1332987 pediatric Choriocarcinoma of Ovary disease_ontology DOID:8336 childhood choriocarcinoma of the ovary pediatric Choriocarcinoma of Ovary NCI2004_11_17:C6549 A gastrointestinal system infectious disease that involves inflammation and infection of the appendix caused by the blockage of the lumen with a small, hard piece of stool, a foreign body or worms. Mucus backs up in the appendiceal lumen, causing bacteria that live inside the appendix to multiply. The infection has_symptom pain, in the upper abdomen initially and later in the lower abdomen, has_symptom nausea, has_symptom vomiting and has_symptom fever. DOID:10275 DOID:10276 DOID:10947 ICD10CM:K37 ICD9CM:540-543.99 ICD9CM:541 MESH:D001064 NCI:C35145 SNOMEDCT_US_2016_03_01:155728006 SNOMEDCT_US_2016_03_01:155729003 SNOMEDCT_US_2016_03_01:155733005 SNOMEDCT_US_2016_03_01:155736002 SNOMEDCT_US_2016_03_01:196785005 SNOMEDCT_US_2016_03_01:307530000 SNOMEDCT_US_2016_03_01:74400008 UMLS_CUI:C0003615 acute appendicitis acute appendicitis with generalized peritonitis acute appendicitis with generalized peritonitis (disorder) acute appendicitis with peritoneal abscess acute appendicitis with peritoneal abscess (disorder) disease_ontology DOID:8337 appendicitis A gastrointestinal system infectious disease that involves inflammation and infection of the appendix caused by the blockage of the lumen with a small, hard piece of stool, a foreign body or worms. Mucus backs up in the appendiceal lumen, causing bacteria that live inside the appendix to multiply. The infection has_symptom pain, in the upper abdomen initially and later in the lower abdomen, has_symptom nausea, has_symptom vomiting and has_symptom fever. url:http://digestive.niddk.nih.gov/ddiseases/pubs/appendicitis/ url:http://www.merck.com/mmhe/sec09/ch132/ch132e.html#sec09-ch132-ch132e-1018 acute appendicitis with generalized peritonitis (disorder) SNOMEDCT_2005_07_31:28845006 acute appendicitis with peritoneal abscess (disorder) SNOMEDCT_2005_07_31:51036000 NCI:C40208 UMLS_CUI:C1516425 disease_ontology DOID:8338 villoglandular variant cervical mucinous adenocarcinoma NCI:C40203 UMLS_CUI:C1516422 disease_ontology DOID:8339 intestinal variant cervical mucinous adenocarcinoma NCI:C40202 UMLS_CUI:C1516421 disease_ontology DOID:8340 endocervical type cervical mucinous adenocarcinoma disease_ontology DOID:8344 type 1b ALPS true disease_ontology DOID:8345 type 2 ALPS true localized Neuroepithelioma of bone disease_ontology DOID:8348 localized PNET of bone true localized Neuroepithelioma of bone NCI2004_11_17:C27353 disease_ontology DOID:8349 metastatic peripheral neuroepithelioma of bone true NCI:C5375 UMLS_CUI:C1334560 aortic malignant neoplasm disease_ontology DOID:8352 aortic malignant tumor NCI:C6561 SNOMEDCT_US_2016_03_01:19897006 SNOMEDCT_US_2016_03_01:253093000 SNOMEDCT_US_2016_03_01:404038007 UMLS_CUI:C1321427 epithelioid MPNST malignant epithelioid neoplasm of the peripheral nerve Sheath disease_ontology DOID:8353 epithelioid malignant peripheral nerve sheath tumor epithelioid MPNST SNOMEDCT_2005_07_31:19897006 malignant epithelioid neoplasm of the peripheral nerve Sheath NCI2004_11_17:C6561 NCI:C9468 OMIM:613779 ORDO:280133 UMLS_CUI:C1332655 C3 deficiency disease_ontology DOID:8354 Xref MGI. complement component 3 deficiency NCI:C40958 UMLS_CUI:C1515293 disease_ontology DOID:8358 pseudoglandular variant testicular seminoma A cervical adenosquamous carcinoma that is a rare form and is composed of cells with a glass-like cytoplasm. NCI:C40212 UMLS_CUI:C1516407 disease_ontology DOID:8361 glassy cell variant cervical adenosquamous carcinoma A cervical adenosquamous carcinoma that is a rare form and is composed of cells with a glass-like cytoplasm. url:http://www.ncbi.nlm.nih.gov/pubmed/14749637 url:http://www.ncbi.nlm.nih.gov/pubmed/15318016 url`:http://en.wikipedia.org/wiki/Glassy_cell_carcinoma_of_the_cervix NCI:C39932 UMLS_CUI:C1515304 disease_ontology DOID:8362 enteric pattern testicular yolk sac tumor malignant tumor of Inferior Vena Cava disease_ontology DOID:8365 inferior vena cava malignant neoplasm true malignant tumor of Inferior Vena Cava NCI2004_11_17:C5377 relapsed adenocarcinoma of the esophagus disease_ontology DOID:8366 esophageal adenocarcinoma recurrent true relapsed adenocarcinoma of the esophagus NCI2004_11_17:C8627 NCI:C6908 SNOMEDCT_US_2016_03_01:399709001 SNOMEDCT_US_2016_03_01:57606003 UMLS_CUI:C1370510 Chordoid meningioma meningioma, chordoid (morphologic abnormality) disease_ontology DOID:8368 chordoid meningioma Chordoid meningioma NCI2004_11_17:C6908 meningioma, chordoid (morphologic abnormality) SNOMEDCT_2005_07_31:399709001 NCI:C7814 UMLS_CUI:C0278622 adult MPNST disease_ontology DOID:8369 adult malignant schwannoma adult MPNST NCI2004_11_17:C7814 mixed Embryonal carcinoma and Yolk Sac tumor with Seminoma of testis disease_ontology DOID:8376 mixed embryonal carcinoma and endodermal sinus neoplasm with seminoma of the testis true mixed Embryonal carcinoma and Yolk Sac tumor with Seminoma of testis NCI2004_11_17:C9172 Ectopic Calcitonin Secretion Ectopic calcitonin production (finding) disease_ontology DOID:8381 ectopic calcitonin production true Ectopic Calcitonin Secretion NCI2004_11_17:C8443 Ectopic calcitonin production (finding) SNOMEDCT_2005_07_31:95836003 relapsed carcinoma of Endometrium disease_ontology DOID:8382 recurrent endometrial cancer true relapsed carcinoma of Endometrium NCI2004_11_17:C9072 disease_ontology DOID:8386 ectopic chorionic gonadotropin secretion disease true disease_ontology DOID:8387 metastatic non-cutaneous melanoma true mixed Embryonal carcinoma and Seminoma of testis disease_ontology DOID:8388 mixed embryonal carcinoma and seminoma of the testis true mixed Embryonal carcinoma and Seminoma of testis NCI2004_11_17:C6350 NCI:C5824 UMLS_CUI:C1334437 tumor of Lumbar Plexus disease_ontology DOID:8389 lumbar plexus neoplasm tumor of Lumbar Plexus NCI2004_11_17:C5824 mixed Choriocarcinoma and Seminoma of testis disease_ontology DOID:8390 mixed choriocarcinoma and seminoma of the testis true mixed Choriocarcinoma and Seminoma of testis NCI2004_11_17:C9173 NCI:C39923 UMLS_CUI:C1515308 disease_ontology DOID:8392 reticular pattern testicular yolk sac tumor NCI:C39946 UMLS_CUI:C1515284 disease_ontology DOID:8394 adult type testicular granulosa cell tumor An arthritis that has_material_basis_in worn out cartilage located_in joint. EFO:0002506 ICD9CM:715.3 OMIM:140600 OMIM:165720 OMIM:607850 OMIM:610839 OMIM:612400 OMIM:612401 UMLS_CUI:C0157946 Osteoarthrosis and allied disorder degenerative arthritis degenerative joint disease hypertrophic arthritis osteoarthrosis disease_ontology DOID:8398 Xref MGI. osteoarthritis An arthritis that has_material_basis_in worn out cartilage located_in joint. url:http://en.wikipedia.org/wiki/Osteoarthritis url:http://www.mayoclinic.com/health/osteoarthritis/DS00019 url:http://www.medicinenet.com/osteoarthritis/article.htm url:http://www.nlm.nih.gov/medlineplus/ency/article/000423.htm A mite infestation that involves rash caused by Leptotrombidium deliense. MESH:D014323 UMLS_CUI:C0041170 disease_ontology DOID:8399 trombiculiasis A mite infestation that involves rash caused by Leptotrombidium deliense. url:http://en.wikipedia.org/wiki/Trombiculosis An ischemic bone disease that results_in necrosis located_in epiphysis. DOID:87 ICD10CM:M93.2 ICD10CM:M93.9 ICD9CM:732.7 MESH:D010007 MESH:D010008 NCI:C34877 NCI:C34878 OMIM:165800 SNOMEDCT_US_2016_03_01:156821002 SNOMEDCT_US_2016_03_01:156822009 SNOMEDCT_US_2016_03_01:203424002 SNOMEDCT_US_2016_03_01:203425001 SNOMEDCT_US_2016_03_01:268027006 SNOMEDCT_US_2016_03_01:268125000 SNOMEDCT_US_2016_03_01:70736000 SNOMEDCT_US_2016_03_01:82562007 UMLS_CUI:C0029420 UMLS_CUI:C0029421 OCD disease_ontology DOID:84 OMIM mapping confirmed by DO. [SN]. osteochondritis dissecans An ischemic bone disease that results_in necrosis located_in epiphysis. url:http://en.wikipedia.org/wiki/Osteochondritis_dissecans url:http://www.mayoclinic.com/health/osteochondritis-dissecans/DS00741 url:http://www.medicinenet.com/osteochondritis_dissecans/article.htm OCD CSP2005:2483-7050 An extrinsic allergic alveolitis caused by inhalation of cork dust containing the antigens produced by the fungus Penicillium glabrum. The symptoms include dyspnea, wheezing cough, fever and asthenia. ICD10CM:J67.3 ICD9CM:495.3 SNOMEDCT_US_2016_03_01:13394002 UMLS_CUI:C0152108 Suberosis cork-handlers' disease or lung cork-handlers' lung disease_ontology DOID:840 cork-handlers' disease An extrinsic allergic alveolitis caused by inhalation of cork dust containing the antigens produced by the fungus Penicillium glabrum. The symptoms include dyspnea, wheezing cough, fever and asthenia. url:http://chestjournal.chestpubs.org/content/124/3/1145.full.pdf url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC470051/pdf/thorax00130-0009.pdf Suberosis ICD9CM_2006:495.3 NCI:C4553 SNOMEDCT_US_2016_03_01:255009006 UMLS_CUI:C0346367 malignant Corneal melanoma malignant melanoma of cornea (disorder) disease_ontology DOID:8400 malignant cornea melanoma malignant Corneal melanoma NCI2004_11_17:C4553 malignant melanoma of cornea (disorder) SNOMEDCT_2005_07_31:255009006 Non-metastatic malignant hemangiopericytoma disease_ontology DOID:8401 malignant hemangiopericytoma nonmetastatic true Non-metastatic malignant hemangiopericytoma NCI2004_11_17:C8710 A diverticulits characterized by the inflammation of a congenital diverticulum, which is a slight bulge of the small intestine present at birth. NCI:C27300 SNOMEDCT_US_2016_03_01:48241004 UMLS_CUI:C0267497 Meckel diverticulitis Meckel's diverticulitis (disorder) disease_ontology DOID:8408 Meckel's diverticulitis A diverticulits characterized by the inflammation of a congenital diverticulum, which is a slight bulge of the small intestine present at birth. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=17021300 url:http://www.ncbi.nlm.nih.gov/pubmed/?term=17579156 url:https://en.wikipedia.org/wiki/Meckel's_diverticulum#Diverticulitis Meckel's diverticulitis (disorder) SNOMEDCT_2005_07_31:48241004 NCI:C36094 UMLS_CUI:C1333370 disease_ontology DOID:8409 microinvasive cervical squamous cell carcinoma An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss. DOID:2707 ICD10CM:J67.9 ICD9CM:495 ICD9CM:495.9 MESH:D000542 NCI:C34369 SNOMEDCT_US_2016_03_01:155581001 SNOMEDCT_US_2016_03_01:195993008 SNOMEDCT_US_2016_03_01:195994002 SNOMEDCT_US_2016_03_01:266399001 SNOMEDCT_US_2016_03_01:37471005 UMLS_CUI:C0002390 alveolitis hypersensitivity pneumonitis disease_ontology DOID:841 extrinsic allergic alveolitis An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss. url:http://www.merck.com/mmhe/sec04/ch051/ch051b.html url:http://www.nlm.nih.gov/medlineplus/ency/article/000109.htm NCI:C6565 UMLS_CUI:C1333000 pediatric renal Angiomyolipoma disease_ontology DOID:8410 childhood kidney angiomyolipoma pediatric renal Angiomyolipoma NCI2004_11_17:C6565 NCI:C3888 SNOMEDCT_US_2016_03_01:254921004 UMLS_CUI:C0241961 Angiomyolipoma of kidney (disorder) renal Angiomyolipoma disease_ontology DOID:8411 kidney angiomyolipoma Angiomyolipoma of kidney (disorder) SNOMEDCT_2005_07_31:254921004 renal Angiomyolipoma NCI2004_11_17:C3888 relapsed extraskeletal Osteosarcoma disease_ontology DOID:8413 recurrent extraskeletal osteosarcoma true relapsed extraskeletal Osteosarcoma NCI2004_11_17:C8811 NCI:C27389 UMLS_CUI:C1332840 disease_ontology DOID:8415 carcinoma arising in nasal papillomatosis NCI:C4244 SNOMEDCT_US_2016_03_01:403996004 SNOMEDCT_US_2016_03_01:52040006 UMLS_CUI:C0334459 Infantile fibrosarcoma (disorder) Infantile fibrosarcoma (morphologic abnormality) disease_ontology DOID:8418 congenital fibrosarcoma Infantile fibrosarcoma (disorder) SNOMEDCT_2005_07_31:403996004 Infantile fibrosarcoma (morphologic abnormality) SNOMEDCT_2005_07_31:52040006 NCI:C4161 SNOMEDCT_US_2016_03_01:26545006 UMLS_CUI:C0334329 Macrofollicular adenoma (morphologic abnormality) disease_ontology DOID:8419 colloid adenoma Macrofollicular adenoma (morphologic abnormality) SNOMEDCT_2005_07_31:26545006 NCI:C6560 SNOMEDCT_US_2016_03_01:699658004 SNOMEDCT_US_2016_03_01:699659007 UMLS_CUI:C1333821 glandular MPNST disease_ontology DOID:8420 malignant glandular tumor of peripheral nerve sheath glandular MPNST NCI2004_11_17:C6560 NCI:C4469 SNOMEDCT_US_2016_03_01:254694002 UMLS_CUI:C0346006 neoplasm of the Follicular Infundibulum tumor of follicular infundibulum (disorder) disease_ontology DOID:8426 follicular infundibulum tumor neoplasm of the Follicular Infundibulum NCI2004_11_17:C4469 tumor of follicular infundibulum (disorder) SNOMEDCT_2005_07_31:254694002 NCI:C8601 SNOMEDCT_US_2016_03_01:423673009 UMLS_CUI:C0853394 malignant Retinal melanoma disease_ontology DOID:8427 retinal melanoma malignant Retinal melanoma NCI2004_11_17:C8601 NCI:C5140 UMLS_CUI:C1332315 Apocrine carcinoma in situ of the breast disease_ontology DOID:8428 breast apocrine carcinoma in situ Apocrine carcinoma in situ of the breast NCI2004_11_17:C5140 disease_ontology DOID:8429 testicular seminoma with syncytiotrophoblastic cells true NCI:C27311 UMLS_CUI:C0856817 disease_ontology DOID:8431 physiological polycythemia ICD10CM:D75.1 MESH:D011086 NCI:C26863 SNOMEDCT_US_2016_03_01:109992005 SNOMEDCT_US_2016_03_01:127062003 SNOMEDCT_US_2016_03_01:165401000 SNOMEDCT_US_2016_03_01:44865000 UMLS_CUI:C0032461 Erythrocythemia disease_ontology DOID:8432 polycythemia Erythrocythemia SNOMEDCT_2005_07_31:165401000 NCI:C27331 UMLS_CUI:C0877367 disease_ontology DOID:8433 thyroid malformation DOID:10227 DOID:13136 DOID:8434 Drug dependence, antepartum Pregnancy and drug dependence Pregnancy and drug dependence (disorder) drug dependence of mother with delivery postpartum drug dependence disease_ontology DOID:8435 Drug dependence complicating pregnancy, childbirth, or the puerperium true Pregnancy and drug dependence SNOMEDCT_2005_07_31:199250005 Pregnancy and drug dependence (disorder) SNOMEDCT_2005_07_31:237228001 ICD10CM:K56.60 ICD10CM:K56.69 ICD9CM:560.9 MESH:D007415 NCI:C9175 SNOMEDCT_US_2016_03_01:155771002 SNOMEDCT_US_2016_03_01:155777003 SNOMEDCT_US_2016_03_01:197072007 SNOMEDCT_US_2016_03_01:197073002 SNOMEDCT_US_2016_03_01:197074008 SNOMEDCT_US_2016_03_01:197080000 SNOMEDCT_US_2016_03_01:266523009 SNOMEDCT_US_2016_03_01:81060008 UMLS_CUI:C0021843 disease_ontology DOID:8437 intestinal obstruction MESH:D000343 SNOMEDCT_US_2016_03_01:20813000 UMLS_CUI:C0001727 Afferent loop syndrome (disorder) disease_ontology DOID:8438 afferent loop syndrome Afferent loop syndrome (disorder) SNOMEDCT_2005_07_31:20813000 ICD10CM:K91.1 ICD9CM:564.2 MESH:D011178 SNOMEDCT_US_2016_03_01:155785007 SNOMEDCT_US_2016_03_01:197126006 SNOMEDCT_US_2016_03_01:197128007 SNOMEDCT_US_2016_03_01:197129004 SNOMEDCT_US_2016_03_01:266527005 SNOMEDCT_US_2016_03_01:80193009 UMLS_CUI:C0032763 Postgastric surgery syndrome (disorder) disease_ontology DOID:8439 postgastrectomy syndrome Postgastric surgery syndrome (disorder) SNOMEDCT_2005_07_31:80193009 chronic depression (disorder) chronic depressive personality disorder disease_ontology DOID:844 chronic depressive disorder true chronic depression (disorder) SNOMEDCT_2005_07_31:192080009 chronic depressive personality disorder ICD9CM_2006:301.12 MESH:D045823 NCI:C37979 SNOMEDCT_US_2016_03_01:278524008 SNOMEDCT_US_2016_03_01:81060008 UMLS_CUI:C1258215 Ileus of intestine disease_ontology DOID:8440 ileus Ileus of intestine MTHICD9_2006:560.1 ICD10CM:K56.0 ICD9CM:560.1 MESH:D007418 NCI:C93045 SNOMEDCT_US_2016_03_01:155773004 SNOMEDCT_US_2016_03_01:55525008 UMLS_CUI:C0030446 disease_ontology DOID:8442 paralytic ileus A brachial plexus neuropathy characterized by an abnormality, usually caused by disease or trauma, located in the brachial plexus. ICD9CM:353.0 SNOMEDCT_US_2016_03_01:193109004 SNOMEDCT_US_2016_03_01:3548001 UMLS_CUI:C0006091 Brachial plexus lesions Brachial plexus lesions NOS (disorder) disease_ontology DOID:8443 brachial plexus lesion A brachial plexus neuropathy characterized by an abnormality, usually caused by disease or trauma, located in the brachial plexus. url:http://en.wikipedia.org/wiki/Brachial_plexus_injury url:http://www.nlm.nih.gov/medlineplus/brachialplexusinjuries.html Brachial plexus lesions ICD9CM_2006:353.0 Brachial plexus lesions NOS (disorder) SNOMEDCT_2005_07_31:193109004 disease_ontology DOID:8444 nerve root and plexus disorder true ICD10CM:K56.2 ICD9CM:560.2 MESH:D045822 NCI:C98963 SNOMEDCT_US_2016_03_01:155774005 SNOMEDCT_US_2016_03_01:197057008 SNOMEDCT_US_2016_03_01:197061002 SNOMEDCT_US_2016_03_01:90738007 SNOMEDCT_US_2016_03_01:9707006 UMLS_CUI:C0042961 Twist of intestine, bowel, or colon Volvulus intestinal volvulus disease_ontology DOID:8445 intestinal volvulus Twist of intestine, bowel, or colon MTHICD9_2006:560.2 Volvulus ICD9CM_2006:560.2 intestinal volvulus SNOMEDCT_2005_07_31:9707006 ICD10CM:K56.1 ICD9CM:560.0 MESH:D007443 NCI:C113484 OMIM:147710 SNOMEDCT_US_2016_03_01:155772009 SNOMEDCT_US_2016_03_01:197055000 SNOMEDCT_US_2016_03_01:35327006 SNOMEDCT_US_2016_03_01:49723003 UMLS_CUI:C0021933 Intussusception (morphologic abnormality) Intussusception NOS (disorder) Intussusception of intestine (disorder) Invagination of intestine or colon disease_ontology DOID:8446 OMIM mapping confirmed by DO. [SN]. intussusception Intussusception (morphologic abnormality) SNOMEDCT_2005_07_31:35327006 Intussusception NOS (disorder) SNOMEDCT_2005_07_31:197055000 Intussusception of intestine (disorder) SNOMEDCT_2005_07_31:49723003 Invagination of intestine or colon MTHICD9_2006:560.0 ICD10CM:K56.4 ICD10CM:K56.49 ICD9CM:560.39 SNOMEDCT_US_2016_03_01:197540000 UMLS_CUI:C0029640 disease_ontology DOID:8448 intestinal impaction disease_ontology DOID:8449 vitamin B deficiency true A bipolar disorder that involves recurrent hypomanic and dysthymic episodes, but no full manic episodes or full major depressive episodes. ICD10CM:F34.0 ICD9CM:301.1 ICD9CM:301.10 ICD9CM:301.13 MESH:D003527 SNOMEDCT_US_2016_03_01:14697007 SNOMEDCT_US_2016_03_01:191751008 SNOMEDCT_US_2016_03_01:191752001 SNOMEDCT_US_2016_03_01:191754000 SNOMEDCT_US_2016_03_01:191755004 SNOMEDCT_US_2016_03_01:192383002 SNOMEDCT_US_2016_03_01:268756002 SNOMEDCT_US_2016_03_01:286737005 SNOMEDCT_US_2016_03_01:386798001 SNOMEDCT_US_2016_03_01:76105009 UMLS_CUI:C0010598 Affective personality disorder Cycloid personality Cyclothymia Cyclothymic personality disease_ontology DOID:845 cyclothymic disorder A bipolar disorder that involves recurrent hypomanic and dysthymic episodes, but no full manic episodes or full major depressive episodes. url:http://en.wikipedia.org/wiki/Mood_disorder Affective personality disorder ICD9CM_2006:301.1 Cycloid personality MTHICD9_2006:301.13 Cyclothymia SNOMEDCT_2005_07_31:192383002 Cyclothymic personality SNOMEDCT_2005_07_31:268756002 DOID:8450 disease_ontology DOID:8451 vitamin deficiency true disease_ontology DOID:8452 malnutrition true Folic acid deficiency Folic acid deficiency (disorder) deficiency of folic acid (disorder) folate deficiency disease_ontology DOID:8453 folic acid deficiency true Folic acid deficiency MTHICD9_2006:266.2 Folic acid deficiency (disorder) SNOMEDCT_2005_07_31:190633005 deficiency of folic acid (disorder) SNOMEDCT_2005_07_31:124913008 folate deficiency CSP2005:2116-7287 ICD10CM:E53.0 ICD9CM:266.0 MESH:D012257 SNOMEDCT_US_2016_03_01:154726004 SNOMEDCT_US_2016_03_01:20307000 SNOMEDCT_US_2016_03_01:267492001 UMLS_CUI:C0035528 vitamin B2 deficiency disease_ontology DOID:8454 ariboflavinosis vitamin B2 deficiency MTHICD9_2006:266.0 ICD10CM:E53.1 ICD9CM:266.1 MESH:D026681 NCI:C85221 SNOMEDCT_US_2016_03_01:18881008 SNOMEDCT_US_2016_03_01:386080007 UMLS_CUI:C0936215 vitamin B6 deficiency syndrome disease_ontology DOID:8455 pyridoxine deficiency anemia vitamin B6 deficiency syndrome MTHICD9_2006:266.1 MESH:D002796 SNOMEDCT_US_2016_03_01:238113006 UMLS_CUI:C0008412 Choline deficiency (disorder) choline deficiency disease_ontology DOID:8456 choline deficiency disease Choline deficiency (disorder) SNOMEDCT_2005_07_31:238113006 choline deficiency CSP2005:2116-7256 ICD10CM:E52 ICD9CM:265.2 MESH:D010383 SNOMEDCT_US_2016_03_01:154725000 SNOMEDCT_US_2016_03_01:238127001 SNOMEDCT_US_2016_03_01:267491008 SNOMEDCT_US_2016_03_01:418186002 SNOMEDCT_US_2016_03_01:418279001 SNOMEDCT_US_2016_03_01:56550003 UMLS_CUI:C0030783 Niacin deficiency Niacin-tryptophan deficiency Pellagra disease_ontology DOID:8457 pellagra Niacin deficiency SNOMEDCT_2005_07_31:238127001 Niacin-tryptophan deficiency MTHICD9_2006:265.2 Pellagra SNOMEDCT_2005_07_31:56550003 disease_ontology DOID:8458 Thiamine and niacin deficiency state true Cobalamin deficiency (disorder) deficiency of vitamin B>12< (disorder) vitamin B 12 deficiency vitamin B12 deficiency disease_ontology DOID:8459 vitamin B 12 deficiency true Cobalamin deficiency (disorder) SNOMEDCT_2005_07_31:190634004 deficiency of vitamin B>12< (disorder) SNOMEDCT_2005_07_31:124904006 vitamin B 12 deficiency MTH:792 vitamin B12 deficiency CSP2005:2116-7456 vitamin B12 deficiency MTHICD9_2006:266.2 disease_ontology DOID:846 arthropathy associated with hematological disorder true A syndrome that is characterized by absence or underdeveloped tissue connecting the left and right halves of the brain, infantile spasms and chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye. MESH:D058540 NCI:C35256 OMIM:304050 ORDO:50 SNOMEDCT_US_2016_03_01:80651009 UMLS_CUI:C0175713 disease_ontology DOID:8461 OMIM mapping confirmed by DO. [SN]. Aicardi syndrome A syndrome that is characterized by absence or underdeveloped tissue connecting the left and right halves of the brain, infantile spasms and chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye. url:http://en.wikipedia.org/wiki/Aicardi_syndrome url:http://ghr.nlm.nih.gov/condition/aicardi-syndrome ICD10CM:H16.0 ICD10CM:H16.00 ICD9CM:370.0 ICD9CM:370.00 MESH:D003320 NCI:C50515 SNOMEDCT_US_2016_03_01:155152009 SNOMEDCT_US_2016_03_01:193758008 SNOMEDCT_US_2016_03_01:193759000 SNOMEDCT_US_2016_03_01:193763007 SNOMEDCT_US_2016_03_01:91514001 UMLS_CUI:C0010043 disease_ontology DOID:8463 corneal ulcer ICD9CM:361.11 SNOMEDCT_US_2016_03_01:193332006 SNOMEDCT_US_2016_03_01:83405000 UMLS_CUI:C0154817 disease_ontology DOID:8464 flat retinoschisis ICD10CM:H33.10 ICD9CM:361.10 MESH:D041441 NCI:C85046 SNOMEDCT_US_2016_03_01:193330003 SNOMEDCT_US_2016_03_01:389992006 SNOMEDCT_US_2016_03_01:44268007 UMLS_CUI:C0152439 disease_ontology DOID:8465 retinoschisis A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina. MESH:D012162 NCI:C34979 SNOMEDCT_US_2016_03_01:95695004 UMLS_CUI:C0035304 RETINA degeneration degeneration of retina disease_ontology DOID:8466 retinal degeneration A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina. url:https://en.wikipedia.org/wiki/Retinal_degeneration_(rhodopsin_mutation) RETINA degeneration MTH:649 degeneration of retina SNOMEDCT_2005_07_31:95695004 disease_ontology DOID:8467 Retinoschisis and retinal cysts true A viral infectious disease that results_in infection, located_in respiratory tract, has_material_basis_in Influenzavirus A, has_material_basis_in Influenzavirus B, or has_material_basis_in Influenzavirus C, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. It is a highly contagious disease that affects birds and mammals and has_symptom chills, has_symptom fever, has_symptom sore throat, has_symptom runny nose, has_symptom muscle pains, has_symptom severe headache, has_symptom cough, and has_symptom weakness. DOID:8468 ICD10CM:J11.1 ICD9CM:487 MESH:D007251 NCI:C53482 SNOMEDCT_US_2016_03_01:155559006 SNOMEDCT_US_2016_03_01:155562009 SNOMEDCT_US_2016_03_01:195931008 SNOMEDCT_US_2016_03_01:266353003 SNOMEDCT_US_2016_03_01:266393000 SNOMEDCT_US_2016_03_01:6142004 UMLS_CUI:C0021400 Influenza with non-respiratory manifestation (disorder) Influenza with other manifestations Influenza with other manifestations (disorder) Influenza with other manifestations NOS (disorder) flu influenza with non-respiratory manifestation disease_ontology DOID:8469 influenza A viral infectious disease that results_in infection, located_in respiratory tract, has_material_basis_in Influenzavirus A, has_material_basis_in Influenzavirus B, or has_material_basis_in Influenzavirus C, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. It is a highly contagious disease that affects birds and mammals and has_symptom chills, has_symptom fever, has_symptom sore throat, has_symptom runny nose, has_symptom muscle pains, has_symptom severe headache, has_symptom cough, and has_symptom weakness. url:http://www.merck.com/mmhe/sec17/ch198/ch198d.html url:http://www.who.int/mediacentre/factsheets/2003/fs211/en/ Influenza with non-respiratory manifestation (disorder) SNOMEDCT_2005_07_31:61700007 Influenza with other manifestations ICD9CM_2006:487.8 Influenza with other manifestations (disorder) SNOMEDCT_2005_07_31:195927002 Influenza with other manifestations NOS (disorder) SNOMEDCT_2005_07_31:195930009 ICD10CM:L94.0 ICD9CM:701.0 MESH:D012594 NCI:C72069 SNOMEDCT_US_2016_03_01:201046006 SNOMEDCT_US_2016_03_01:201047002 SNOMEDCT_US_2016_03_01:201048007 SNOMEDCT_US_2016_03_01:201052007 SNOMEDCT_US_2016_03_01:90424004 UMLS_CUI:C0036420 Circumscribed scleroderma Circumscribed scleroderma NOS (disorder) Morphea Scleroderma, circumscribed or localized Unspecified circumscribed scleroderma (disorder) localised morphoea localized morphea (disorder) localized scleroderma (disorder) [Ambiguous] disease_ontology DOID:8472 localized scleroderma Circumscribed scleroderma ICD9CM_2006:701.0 Circumscribed scleroderma NOS (disorder) SNOMEDCT_2005_07_31:201052007 Morphea SNOMEDCT_2005_07_31:156452007 Scleroderma, circumscribed or localized MTHICD9_2006:701.0 Unspecified circumscribed scleroderma (disorder) SNOMEDCT_2005_07_31:201047002 localised morphoea SNOMEDCT_2005_07_31:201046006 localized morphea (disorder) SNOMEDCT_2005_07_31:201048007 localized scleroderma (disorder) [Ambiguous] SNOMEDCT_2005_07_31:90424004 ICD10CM:K90.81 ICD9CM:040.2 MESH:D008061 NCI:C85228 SNOMEDCT_US_2016_03_01:41545003 UMLS_CUI:C0023788 Whipple's disease Whipple's disease (disorder) intestinal lipodystrophy disease_ontology DOID:8476 Whipple disease Whipple's disease CSP2005:1745-6360 Whipple's disease ICD9CM_2006:040.2 Whipple's disease (disorder) SNOMEDCT_2005_07_31:41545003 intestinal lipodystrophy MTHICD9_2006:040.2 disease_ontology DOID:8477 malabsorption syndrome true A commensal bacterial infectious disease that results_in infection, which is characterized by contiguous spread, suppurative and granulomatous inflammation, and formation of multiple abscesses and sinus tracts that may discharge sulfur granules, has_material_basis_in Actinomyces israelii, has_material_basis_in Actinomyces gerencseriae, has_material_basis_in Actinomyces naeslundii, has_material_basis_in Actinomyces odontolyticus, has_material_basis_in Actinomyces viscosus, has_material_basis_in Actinomyces meyeri, has_material_basis_in Propionibacterium propionicum, which require a break in the integrity of the mucous membranes and the presence of devitalized tissue to invade deeper body structures. DOID:0050000 DOID:13079 ICD10CM:A42 ICD10CM:A42.9 ICD9CM:039 ICD9CM:039.9 MESH:D000196 NCI:C34350 SNOMEDCT_US_2016_03_01:11817007 SNOMEDCT_US_2016_03_01:154314007 SNOMEDCT_US_2016_03_01:186402009 SNOMEDCT_US_2016_03_01:186405006 SNOMEDCT_US_2016_03_01:187335006 SNOMEDCT_US_2016_03_01:238416009 SNOMEDCT_US_2016_03_01:266185008 SNOMEDCT_US_2016_03_01:50508009 UMLS_CUI:C0001261 Actinomycotic madura foot (disorder) Actinomycotic mycetema Actinomycotic mycetoma of foot Madura foot due to Actinomadura (disorder) actinomycotic infection disease_ontology actinomycetoma boil DOID:8478 actinomycosis A commensal bacterial infectious disease that results_in infection, which is characterized by contiguous spread, suppurative and granulomatous inflammation, and formation of multiple abscesses and sinus tracts that may discharge sulfur granules, has_material_basis_in Actinomyces israelii, has_material_basis_in Actinomyces gerencseriae, has_material_basis_in Actinomyces naeslundii, has_material_basis_in Actinomyces odontolyticus, has_material_basis_in Actinomyces viscosus, has_material_basis_in Actinomyces meyeri, has_material_basis_in Propionibacterium propionicum, which require a break in the integrity of the mucous membranes and the presence of devitalized tissue to invade deeper body structures. url:http://accessmedicine.com/resourceTOC.aspx?resourceID=4 url:http://emedicine.medscape.com/article/211587-overview url:http://en.wikipedia.org/wiki/Actinomycosis Actinomycotic madura foot (disorder) SNOMEDCT_2005_07_31:82684004 Actinomycotic mycetema SNOMEDCT_2005_07_31:187089001 Actinomycotic mycetoma of foot SNOMEDCT_2005_07_31:186397005 Madura foot due to Actinomadura (disorder) SNOMEDCT_2005_07_31:37431000 A bone inflammation disease that involves a response to irritation or injury, characterized by joint pain, swelling, stiffness located_in joint and/or redness located_in skin over the joint. ICD10CM:M19.90 MESH:D001168 NCI:C2883 SNOMEDCT_US_2016_03_01:202059001 SNOMEDCT_US_2016_03_01:363178003 SNOMEDCT_US_2016_03_01:372091005 SNOMEDCT_US_2016_03_01:3723001 UMLS_CUI:C0003864 Inflammatory disorder of joint disease_ontology arthritis DOID:848 arthritis A bone inflammation disease that involves a response to irritation or injury, characterized by joint pain, swelling, stiffness located_in joint and/or redness located_in skin over the joint. ls:IEDB url:http://arthritis.webmd.com/ url:http://en.wikipedia.org/wiki/Arthritis url:http://www.arthritis.org/ url:http://www.nlm.nih.gov/medlineplus/ency/article/001243.htm Inflammatory disorder of joint SNOMEDCT_2005_07_31:363178003 arthritis CSP2005:2715-1134 DOID:14025 DOID:14036 ICD10CM:I01.9 ICD10CM:I09.0 ICD10CM:M05.3 ICD9CM:391.9 ICD9CM:398.0 NCI:C34985 SNOMEDCT_US_2016_03_01:155270000 SNOMEDCT_US_2016_03_01:194713007 SNOMEDCT_US_2016_03_01:194750008 SNOMEDCT_US_2016_03_01:195136004 SNOMEDCT_US_2016_03_01:266285003 SNOMEDCT_US_2016_03_01:312591002 SNOMEDCT_US_2016_03_01:367538001 SNOMEDCT_US_2016_03_01:4536006 SNOMEDCT_US_2016_03_01:8805001 UMLS_CUI:C0035440 UMLS_CUI:C0489959 Rheumatic degeneration of myocardium Rheumatic fever with myocarditis Rheumatic myocarditis Rheumatic myocarditis (disorder) Rheumatoid myocarditis (disorder) active rheumatic fever with myocarditis acute Rheumatic Myocarditis acute rheumatic carditis acute rheumatic myocarditis acute rheumatic myocarditis (disorder) acute rheumatic myocarditis (disorder) [Ambiguous] disease_ontology DOID:8481 rheumatic myocarditis Rheumatic fever with myocarditis MTHICD9_2006:391.2 Rheumatic myocarditis ICD9CM_2006:398.0 Rheumatic myocarditis SNOMEDCT_2005_07_31:266285003 Rheumatic myocarditis (disorder) SNOMEDCT_2005_07_31:194750008 Rheumatoid myocarditis (disorder) SNOMEDCT_2005_07_31:195136004 acute Rheumatic Myocarditis NCI2004_11_17:C35202 acute rheumatic myocarditis ICD9CM_2006:391.2 SNOMEDCT_2005_07_31:155269001 acute rheumatic myocarditis (disorder) SNOMEDCT_2005_07_31:194709000 acute rheumatic myocarditis (disorder) [Ambiguous] SNOMEDCT_2005_07_31:4536006 ICD10CM:H34.0 ICD9CM:362.34 NCI:C35193 SNOMEDCT_US_2016_03_01:193377008 SNOMEDCT_US_2016_03_01:87224000 UMLS_CUI:C0154840 Retinal transient arterial occlusion NOS (disorder) Transient arterial retinal occlusion (disorder) Transient retinal arterial occlusion disease_ontology DOID:8482 transient retinal arterial occlusion Retinal transient arterial occlusion NOS (disorder) SNOMEDCT_2005_07_31:193377008 Transient arterial retinal occlusion (disorder) SNOMEDCT_2005_07_31:87224000 Transient retinal arterial occlusion ICD9CM_2006:362.34 MESH:D015356 NCI:C34978 SNOMEDCT_US_2016_03_01:232035005 UMLS_CUI:C0035302 Retinal artery occlusion (disorder) disease_ontology DOID:8483 retinal artery occlusion Retinal artery occlusion (disorder) SNOMEDCT_2005_07_31:232035005 An opportunistic mycosis that is located_in lungs caused by inhalation of fungal spores while stripping the bark from maple logs, has_material_basis_in Cryptostroma corticale. ICD10CM:J67.6 ICD9CM:495.6 SNOMEDCT_US_2016_03_01:86638007 UMLS_CUI:C0155890 Maple bark-strippers' lung Maple-bark strippers' lung (disorder) alveolitis due to cryptostroma corticale maple bark disease maple bark stripper's disease maple bark stripper's lung disease_ontology DOID:8484 maple bark strippers' lung An opportunistic mycosis that is located_in lungs caused by inhalation of fungal spores while stripping the bark from maple logs, has_material_basis_in Cryptostroma corticale. url:http://nt.ars-grin.gov/fungaldatabases/ url:http://www.ncbi.nlm.nih.gov/pubmed/2735559 Maple bark-strippers' lung ICD9CM_2006:495.6 Maple-bark strippers' lung (disorder) SNOMEDCT_2005_07_31:86638007 An opportunistic fungi incertae sedis mycosis that results_in fungal infection located_in sinuses, located_in brain, or located_in lungs of immunocompromised people, has_material_basis_in Mucorales molds. DOID:0050087 DOID:8486 Mucormycosis (disorder) Mucormycosis, unspecified Mucormycosis, unspecified (disorder) Phycomycosis or Mucormycosis Zygomycosis (disorder) Zygomycosis [Phycomycosis or Mucormycosis] Zygomycosis, unspecified (disorder) disseminated mucormycosis zygomycosis disease_ontology DOID:8485 mucormycosis true An opportunistic fungi incertae sedis mycosis that results_in fungal infection located_in sinuses, located_in brain, or located_in lungs of immunocompromised people, has_material_basis_in Mucorales molds. url:http://www.nlm.nih.gov/medlineplus/ency/article/000649.htm Mucormycosis (disorder) SNOMEDCT_2005_07_31:76627001 Mucormycosis, unspecified SNOMEDCT_2005_07_31:187104007 Mucormycosis, unspecified (disorder) SNOMEDCT_2005_07_31:187501007 Phycomycosis or Mucormycosis MTHICD9_2006:117.7 Zygomycosis (disorder) SNOMEDCT_2005_07_31:59277005 Zygomycosis [Phycomycosis or Mucormycosis] ICD9CM_2006:117.7 Zygomycosis, unspecified (disorder) SNOMEDCT_2005_07_31:187496006 secondary retinal cyst (disorder) secondary retinal cysts secondary retinal cysts (disorder) disease_ontology DOID:8487 secondary retinal cyst true secondary retinal cyst (disorder) SNOMEDCT_2005_07_31:56039006 secondary retinal cysts ICD9CM_2006:361.14 secondary retinal cysts (disorder) SNOMEDCT_2005_07_31:193334007 A placenta disease that is characterized by an excess of amniotic fluid in the amniotic sac. ICD10CM:O40 ICD9CM:657 ICD9CM:657.0 MESH:D006831 NCI:C92848 SNOMEDCT_US_2016_03_01:156188008 SNOMEDCT_US_2016_03_01:157052008 SNOMEDCT_US_2016_03_01:199644009 SNOMEDCT_US_2016_03_01:199645005 SNOMEDCT_US_2016_03_01:199648007 SNOMEDCT_US_2016_03_01:199650004 SNOMEDCT_US_2016_03_01:267261001 SNOMEDCT_US_2016_03_01:405235009 SNOMEDCT_US_2016_03_01:86203003 UMLS_CUI:C0020224 disease_ontology DOID:8488 polyhydramnios A placenta disease that is characterized by an excess of amniotic fluid in the amniotic sac. url:http://en.wikipedia.org/wiki/Polyhydramnios disease_ontology DOID:8489 disorder of amniotic fluid and membranes true ICD9CM:714.81 SNOMEDCT_US_2015_03_01:111280008 SNOMEDCT_US_2015_03_01:155621007 SNOMEDCT_US_2015_03_01:196132006 SNOMEDCT_US_2015_03_01:201794001 SNOMEDCT_US_2015_03_01:201813004 SNOMEDCT_US_2015_03_01:398726004 Rheumatoid lung disease_ontology DOID:849 rheumatoid lung disease Rheumatoid lung SNOMEDCT_2005_07_31:155621007 DOID:8496 DOID:8497 antepartum primary uterine inertia primary uterine inertia - delivered primary uterine inertia - delivered (disorder) primary uterine inertia, with delivery disease_ontology DOID:8490 primary hypotonic uterine dysfunction true primary uterine inertia - delivered (disorder) SNOMEDCT_2005_07_31:199819004 primary uterine inertia, with delivery ICD9CM_2006:661.01 disease_ontology DOID:8491 Prolonged first stage of labor true disease_ontology DOID:8493 abnormality of forces of labor true disease_ontology DOID:8494 dystocia true disease_ontology DOID:8495 prolonged labor true ICD10CM:H53.63 ICD9CM:368.61 MESH:C537743 SNOMEDCT_US_2016_03_01:193687000 SNOMEDCT_US_2016_03_01:193688005 SNOMEDCT_US_2016_03_01:193689002 SNOMEDCT_US_2016_03_01:89208008 UMLS_CUI:C1306122 Congenital night blindness Oguchi's disease disease_ontology DOID:8498 OMIM mapping confirmed by DO. [SN]. hereditary night blindness Congenital night blindness ICD9CM_2006:368.61 Oguchi's disease MTHICD9_2006:368.61 ICD10CM:H53.6 ICD10CM:H53.60 ICD9CM:368.6 ICD9CM:368.60 MESH:D009755 NCI:C34850 NCI:C37997 SNOMEDCT_US_2016_03_01:155144006 SNOMEDCT_US_2016_03_01:193686009 SNOMEDCT_US_2016_03_01:193693008 SNOMEDCT_US_2016_03_01:65194006 SNOMEDCT_US_2016_03_01:75390007 UMLS_CUI:C0028077 disease_ontology DOID:8499 night blindness A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide. DOID:11894 DOID:11895 DOID:29 DOID:766 ICD10CM:J98.4 MESH:D008171 NCI:C3198 SNOMEDCT_US_2016_03_01:196164004 SNOMEDCT_US_2016_03_01:19829001 SNOMEDCT_US_2016_03_01:266374002 UMLS_CUI:C0024115 disease_ontology DOID:850 Updating out dated CUI and removing lung abscess as a synonym. lung disease A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide. url:http://www.niehs.nih.gov/health/topics/conditions/lung-disease/index.cfm url:http://www.nlm.nih.gov/medlineplus/ency/article/000066.htm ICD10CM:H35.5 ICD10CM:H35.50 ICD9CM:362.7 ICD9CM:362.70 NCI:C35194 SNOMEDCT_US_2016_03_01:193399000 SNOMEDCT_US_2016_03_01:193417000 SNOMEDCT_US_2016_03_01:267615006 SNOMEDCT_US_2016_03_01:41799005 UMLS_CUI:C0154860 disease_ontology DOID:8500 hereditary retinal dystrophy MESH:D058499 NCI:C35625 SNOMEDCT_US_2016_03_01:314407005 UMLS_CUI:C0854723 Retinal Dystrophy disease_ontology DOID:8501 fundus dystrophy Retinal Dystrophy NCI2004_11_17:C35625 An autoimmune disease of skin and connective tissue that is characterized by blisters filled with a watery fluid, located_in skin. The disease is associated with the amount of gluten ingested. ICD9CM:694.8 SNOMEDCT_US_2016_03_01:200916004 UMLS_CUI:C0079957 disease_ontology DOID:8502 bullous skin disease An autoimmune disease of skin and connective tissue that is characterized by blisters filled with a watery fluid, located_in skin. The disease is associated with the amount of gluten ingested. url:http://en.wikipedia.org/wiki/Dermatitis_herpetiformis An impetigo that is characterized as a form of severe pustular psoriasis occurring in pregnancy. ICD10CM:L40.1 ICD9CM:694.3 SNOMEDCT_US_2016_03_01:200973000 SNOMEDCT_US_2016_03_01:65539006 UMLS_CUI:C1314968 Impetigo herpetiformis (disorder) disease_ontology DOID:8503 impetigo herpetiformis An impetigo that is characterized as a form of severe pustular psoriasis occurring in pregnancy. url:http://en.wikipedia.org/wiki/Impetigo_herpetiformis Impetigo herpetiformis (disorder) SNOMEDCT_2005_07_31:65539006 A pyoderma consisting of three forms of skin lesions having either a thick, adherent, recurrent, dirty yellow crust with an erythematous margin (common or superficial impetigo) or lessions which are superficial, thin-walled, and bullous as found in bullous impetigo. The lesions in bullous (staphylococcal) impetigo, which are always caused by S aureus, are superficial, thin-walled, and bullous. ICD10CM:L01 ICD10CM:L01.0 ICD10CM:L01.00 ICD9CM:684 MESH:D007169 NCI:C99088 SNOMEDCT_US_2016_03_01:156319000 SNOMEDCT_US_2016_03_01:200710001 SNOMEDCT_US_2016_03_01:267836006 SNOMEDCT_US_2016_03_01:48277006 UMLS_CUI:C0021099 disease_ontology DOID:8504 impetigo A pyoderma consisting of three forms of skin lesions having either a thick, adherent, recurrent, dirty yellow crust with an erythematous margin (common or superficial impetigo) or lessions which are superficial, thin-walled, and bullous as found in bullous impetigo. The lesions in bullous (staphylococcal) impetigo, which are always caused by S aureus, are superficial, thin-walled, and bullous. url:http://gsbs.utmb.edu/microbook/ch098.htm ICD10CM:L13.0 ICD9CM:694.0 MESH:D003874 NCI:C26742 SNOMEDCT_US_2016_03_01:111196000 SNOMEDCT_US_2016_03_01:156354007 SNOMEDCT_US_2016_03_01:200899006 UMLS_CUI:C0011608 Dermatitis herpetiformis Dermatitis herpetiformis (disorder) Dermatitis herpetiformis [dup] (disorder) Dermatosis herpetiformis Duhring's disease disease_ontology DOID:8505 dermatitis herpetiformis Dermatitis herpetiformis ICD9CM_2006:694.0 Dermatitis herpetiformis SNOMEDCT_2005_07_31:156354007 Dermatitis herpetiformis (disorder) SNOMEDCT_2005_07_31:111196000 Dermatitis herpetiformis [dup] (disorder) SNOMEDCT_2005_07_31:200899006 Dermatosis herpetiformis MTHICD9_2006:694.0 Duhring's disease CSP2005:4008-0032 An autoimmune disease of skin and connective tissue characterized by large blisters. ICD10CM:L12 ICD10CM:L12.0 ICD10CM:L12.9 ICD9CM:694.5 MESH:D010391 NCI:C34908 NCI:C84389 SNOMEDCT_US_2016_03_01:156356009 SNOMEDCT_US_2016_03_01:200912002 SNOMEDCT_US_2016_03_01:77090002 SNOMEDCT_US_2016_03_01:86142006 UMLS_CUI:C0030805 Bullous pemphigoid Bullous pemphigoid (disorder) disease_ontology DOID:8506 bullous pemphigoid An autoimmune disease of skin and connective tissue characterized by large blisters. sn:IEDB Bullous pemphigoid MTH:NOCODE Bullous pemphigoid MTHICD9_2006:694.5 Bullous pemphigoid (disorder) SNOMEDCT_2005_07_31:77090002 ICD10CM:L12.2 ICD9CM:694.2 SNOMEDCT_US_2016_03_01:200900001 SNOMEDCT_US_2016_03_01:267799009 SNOMEDCT_US_2016_03_01:5906000 UMLS_CUI:C0152092 Juvenile dermatitis herpetiformis (disorder) disease_ontology DOID:8507 juvenile dermatitis herpetiformis Juvenile dermatitis herpetiformis (disorder) SNOMEDCT_2005_07_31:5906000 ICD10CM:L13.1 ICD9CM:694.1 MESH:D012872 SNOMEDCT_US_2016_03_01:25147002 UMLS_CUI:C0600336 Sneddon-Wilkinson disease or syndrome Subcorneal pustular dermatosis Subcorneal pustular dermatosis (disorder) disease_ontology DOID:8508 subcorneal pustular dermatosis Sneddon-Wilkinson disease or syndrome MTHICD9_2006:694.1 Subcorneal pustular dermatosis ICD9CM_2006:694.1 Subcorneal pustular dermatosis (disorder) SNOMEDCT_2005_07_31:25147002 ICD10CM:N75.0 ICD9CM:616.2 NCI:C26706 SNOMEDCT_US_2016_03_01:155982004 SNOMEDCT_US_2016_03_01:27978000 SNOMEDCT_US_2016_03_01:57044006 UMLS_CUI:C0004767 Bartholin duct cyst Bartholin's Cyst Cyst of Bartholin's gland Cyst of Bartholin's gland duct disease_ontology DOID:851 Bartholin's duct cyst Bartholin's Cyst NCI2004_11_17:C26706 Cyst of Bartholin's gland SNOMEDCT_2005_07_31:155982004 Cyst of Bartholin's gland duct SNOMEDCT_2005_07_31:57044006 ICD10CM:O88.21 ICD10CM:O88.23 ICD9CM:673 SNOMEDCT_US_2016_03_01:156273009 SNOMEDCT_US_2016_03_01:200284000 SNOMEDCT_US_2016_03_01:200320009 SNOMEDCT_US_2016_03_01:200321008 SNOMEDCT_US_2016_03_01:200326003 SNOMEDCT_US_2016_03_01:237341004 SNOMEDCT_US_2016_03_01:50286006 UMLS_CUI:C0157540 disease_ontology DOID:8512 puerperal pulmonary embolism ICD9CM:415 SNOMEDCT_US_2016_03_01:155324005 SNOMEDCT_US_2016_03_01:194880009 SNOMEDCT_US_2016_03_01:194884000 SNOMEDCT_US_2016_03_01:67189007 UMLS_CUI:C0155671 acute pulmonary heart disease (disorder) acute pulmonary heart disease NOS (disorder) disease_ontology DOID:8514 acute pulmonary heart disease acute pulmonary heart disease (disorder) SNOMEDCT_2005_07_31:67189007 acute pulmonary heart disease NOS (disorder) SNOMEDCT_2005_07_31:194884000 A congestive heart failure that involves a failure of the right side of the heart and is characterized by an enlargement of the right ventricle of the heart as a response to increased resistance or high blood pressure in the lungs. ICD10CM:I27.81 ICD10CM:I27.9 MESH:D011660 SNOMEDCT_US_2016_03_01:155323004 SNOMEDCT_US_2016_03_01:155329000 SNOMEDCT_US_2016_03_01:194879006 SNOMEDCT_US_2016_03_01:266294009 SNOMEDCT_US_2016_03_01:274096000 SNOMEDCT_US_2016_03_01:286952009 SNOMEDCT_US_2016_03_01:83291003 UMLS_CUI:C0034072 cardiopulmonary disease pulmonary heart disease disease_ontology DOID:8515 Cor pulmonale A congestive heart failure that involves a failure of the right side of the heart and is characterized by an enlargement of the right ventricle of the heart as a response to increased resistance or high blood pressure in the lungs. url:http://en.wikipedia.org/wiki/Cor_pulmonale url:http://en.wikipedia.org/wiki/Heart_disease cardiopulmonary disease CSP2005:2595-5525 pulmonary heart disease SNOMEDCT_2005_07_31:155323004 ICD9CM:415.1 SNOMEDCT_US_2016_03_01:1001000119102 UMLS_CUI:C0034066 disease_ontology DOID:8516 pulmonary embolism and infarction ICD10CM:I26.09 ICD9CM:415.0 SNOMEDCT_US_2016_03_01:155325006 SNOMEDCT_US_2016_03_01:194881008 SNOMEDCT_US_2016_03_01:49584005 UMLS_CUI:C0155672 acute cor pulmonale (disorder) disease_ontology DOID:8517 acute cor pulmonale acute cor pulmonale (disorder) SNOMEDCT_2005_07_31:49584005 A substance abuse that involves the recurring use of barbiturate drugs despite negative consequences. ICD9CM:305.43 UMLS_CUI:C0154529 disease_ontology DOID:8519 barbiturate abuse A substance abuse that involves the recurring use of barbiturate drugs despite negative consequences. url:http://en.wikipedia.org/wiki/Barbiturate disease_ontology DOID:8521 recurrent manic episodes true nodular lymphoma of lymph nodes of axilla and upper limb (disorder) disease_ontology DOID:8523 nodular lymphoma involving lymph nodes of axilla and upper limb true nodular lymphoma of lymph nodes of axilla and upper limb (disorder) SNOMEDCT_2005_07_31:188612002 nodular lymphoma of lymph nodes of axilla and upper limb (disorder) SNOMEDCT_2005_07_31:95189004 DOID:8603 Follicle Center Lymphoma Follicular low grade B-cell lymphoma (disorder) Follicular non-Hodgkin's lymphoma (disorder) Giant follicular lymphosarcoma follicular lymphoma malignant lymphoma, follicle centre malignant lymphoma, nodular NOS (morphologic abnormality) nodular lymphoma (Brill - Symmers disease) disease_ontology DOID:8524 OMIM mapping confirmed by DO. [SN]. nodular lymphoma true Follicle Center Lymphoma NCI2004_11_17:C3209 Follicular low grade B-cell lymphoma (disorder) SNOMEDCT_2005_07_31:277618009 Follicular non-Hodgkin's lymphoma (disorder) SNOMEDCT_2005_07_31:308121000 Giant follicular lymphosarcoma MTHICD9_2006:202.0 follicular lymphoma CSP2005:4001-0094 malignant lymphoma, follicle centre SNOMEDCT_2005_07_31:55150002 malignant lymphoma, nodular NOS (morphologic abnormality) SNOMEDCT_2005_07_31:269510001 nodular lymphoma (Brill - Symmers disease) SNOMEDCT_2005_07_31:188607003 disease_ontology DOID:8525 nodular lymphoma involving intra-abdominal lymph nodes true DOID:8526 DOID:8809 DOID:8884 DOID:8935 DOID:9151 ICD10CM:C93.Z ICD10CM:C93.Z0 ICD9CM:206.8 SNOMEDCT_US_2016_03_01:188747004 SNOMEDCT_US_2016_03_01:188749001 SNOMEDCT_US_2016_03_01:190062007 SNOMEDCT_US_2016_03_01:190160002 UMLS_CUI:C0153903 Schilling's leukemia disease_ontology DOID:8527 monocytic leukemia Schilling's leukemia CSP2005:2004-2820 Ulcer of lower limbs is a chronic ulcer of skin where the ulcer is not a decubitus ulcer. DOID:8528 DOID:8610 DOID:8655 DOID:9034 DOID:9086 DOID:9200 DOID:9237 Ulcer of ankle Ulcer of calf Ulcer of heel and midfoot Ulcer of thigh disease_ontology DOID:8529 ulcer of lower limbs Ulcer of lower limbs is a chronic ulcer of skin where the ulcer is not a decubitus ulcer. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=ulcer ICD10CM:M35.3 ICD9CM:725 MESH:D011111 NCI:C85018 SNOMEDCT_US_2016_03_01:156656001 SNOMEDCT_US_2016_03_01:202834009 SNOMEDCT_US_2016_03_01:267988003 SNOMEDCT_US_2016_03_01:65323003 UMLS_CUI:C0032533 Polymyalgia rheumatica Polymyalgia rheumatica (disorder) Polymyalgia rheumatica [dup] (disorder) disease_ontology DOID:853 polymyalgia rheumatica Polymyalgia rheumatica ICD9CM_2006:725 Polymyalgia rheumatica SNOMEDCT_2005_07_31:156656001 Polymyalgia rheumatica SNOMEDCT_2005_07_31:202834009 Polymyalgia rheumatica (disorder) SNOMEDCT_2005_07_31:65323003 Polymyalgia rheumatica [dup] (disorder) SNOMEDCT_2005_07_31:267988003 disease_ontology DOID:8530 toxic gastroenteritis and colitis true A pharynx cancer that is located_in the hypopharynx. DOID:12202 DOID:8532 DOID:9160 ICD10CM:C13 ICD10CM:C13.2 ICD10CM:C13.9 ICD9CM:148 ICD9CM:148.3 ICD9CM:148.9 MESH:D007012 NCI:C7190 SNOMEDCT_US_2016_03_01:187712005 SNOMEDCT_US_2016_03_01:187717004 SNOMEDCT_US_2016_03_01:303012000 SNOMEDCT_US_2016_03_01:363399006 SNOMEDCT_US_2016_03_01:93831006 SNOMEDCT_US_2016_03_01:93968005 UMLS_CUI:C0153398 UMLS_CUI:C0496770 Hypopharyngeal cancer malignant Hypopharyngeal tumor malignant neoplasm of hypopharynx malignant neoplasm of hypopharynx NOS malignant neoplasm of hypopharynx NOS (disorder) malignant neoplasm of hypopharynx, NOS malignant neoplasm of ill-defined sites within the lip and oral cavity malignant neoplasm of other specified hypopharyngeal site (disorder) malignant neoplasm of other specified sites of hypopharynx malignant neoplasm of posterior hypopharyngeal wall malignant neoplasm of posterior wall of hypopharynx malignant tumor of hypopharynx (disorder) malignant tumor of posterior wall of hypopharynx (disorder) malignant tumour of hypopharynx disease_ontology DOID:8533 hypopharynx cancer A pharynx cancer that is located_in the hypopharynx. url:http://en.wikipedia.org/wiki/Hypopharynx Hypopharyngeal cancer MTH:NOCODE malignant Hypopharyngeal tumor NCI2004_11_17:C7190 malignant neoplasm of hypopharynx ICD9CM_2006:148 malignant neoplasm of hypopharynx NOS MTHICD9_2006:148.9 malignant neoplasm of hypopharynx NOS (disorder) SNOMEDCT_2005_07_31:187712005 malignant neoplasm of hypopharynx, NOS SNOMEDCT_2005_07_31:93831006 malignant neoplasm of other specified hypopharyngeal site (disorder) SNOMEDCT_2005_07_31:187711003 malignant neoplasm of posterior wall of hypopharynx MTH:U001377 malignant tumor of hypopharynx (disorder) SNOMEDCT_2005_07_31:363399006 malignant tumor of posterior wall of hypopharynx (disorder) SNOMEDCT_2005_07_31:303012000 malignant tumour of hypopharynx SNOMEDCT_2005_07_31:187717004 ICD10CM:K21 ICD10CM:K21.9 ICD9CM:530.81 MESH:D005764 NCI:C26781 NCI:C92560 OMIM:109350 SNOMEDCT_US_2016_03_01:102620007 SNOMEDCT_US_2016_03_01:155673008 SNOMEDCT_US_2016_03_01:196600005 SNOMEDCT_US_2016_03_01:196624002 SNOMEDCT_US_2016_03_01:235595009 SNOMEDCT_US_2016_03_01:266498005 SNOMEDCT_US_2016_03_01:54856001 SNOMEDCT_US_2016_03_01:698065002 UMLS_CUI:C0017168 Acid reflux GERD GERD - Gastro-esophageal reflux disease Gastresophageal reflux Gastro-esophageal reflux Gastroesophageal reflux Gastroesophageal reflux disease disease_ontology DOID:8534 OMIM mapping confirmed by DO. [SN]. gastroesophageal reflux disease Acid reflux SNOMEDCT_2005_07_31:196624002 GERD NCI2004_11_17:C26781 GERD - Gastro-esophageal reflux disease SNOMEDCT_2005_07_31:235595009 Gastresophageal reflux SNOMEDCT_2005_07_31:102620007 Gastro-esophageal reflux SNOMEDCT_2005_07_31:155673008 Gastro-esophageal reflux SNOMEDCT_2005_07_31:266498005 Gastroesophageal reflux MTHICD9_2006:530.81 Gastroesophageal reflux disease MTH:NOCODE A Varicellovirus infectious disease that results_in infection located_in eye, has_material_basis_in Human herpesvirus 3, which reactivates from the trigeminal ganglion after the primary infection. DOID:9101 Herpes zoster ophthalmicus Herpes zoster ophthalmicus (disorder) Herpes zoster with ophthalmic complication (disorder) Herpes zoster with other ophthalmic complication (disorder) Ophthalmic herpes zoster infection herpes zoster with other ophthalmic complications disease_ontology DOID:8535 ophthalmic herpes zoster true A Varicellovirus infectious disease that results_in infection located_in eye, has_material_basis_in Human herpesvirus 3, which reactivates from the trigeminal ganglion after the primary infection. url:http://emedicine.medscape.com/article/783223-overview Herpes zoster ophthalmicus MTHICD9_2006:053.20 Herpes zoster ophthalmicus (disorder) SNOMEDCT_2005_07_31:87513003 Herpes zoster with ophthalmic complication (disorder) SNOMEDCT_2005_07_31:186524006 Herpes zoster with other ophthalmic complication (disorder) SNOMEDCT_2005_07_31:186527004 Ophthalmic herpes zoster infection SNOMEDCT_2005_07_31:186526008 A viral infectious disease that results_in infection located_in nerve fiber, has_material_basis_in Human herpesvirus 3, which reactivates after appearing as chickenpox in childhood. The virus is transmitted_by direct contact with the rash, which can develop into chickenpox in newly-infected individuals. The infection has_symptom rash which is followed by blisters, has_symptom headache, has_symptom fever, has_symptom malaise, has_symptom itching, has_symptom burning pain, and has_symptom paresthesia. DOID:8554 DOID:8555 DOID:8772 DOID:8801 DOID:9085 ICD10CM:B02 ICD10CM:B02.9 ICD9CM:053 MESH:D006562 NCI:C71079 SNOMEDCT_US_2016_03_01:154326002 SNOMEDCT_US_2016_03_01:186514003 SNOMEDCT_US_2016_03_01:186533008 SNOMEDCT_US_2016_03_01:4740000 UMLS_CUI:C0019360 Shingles herpes zona disease_ontology DOID:8536 herpes zoster A viral infectious disease that results_in infection located_in nerve fiber, has_material_basis_in Human herpesvirus 3, which reactivates after appearing as chickenpox in childhood. The virus is transmitted_by direct contact with the rash, which can develop into chickenpox in newly-infected individuals. The infection has_symptom rash which is followed by blisters, has_symptom headache, has_symptom fever, has_symptom malaise, has_symptom itching, has_symptom burning pain, and has_symptom paresthesia. url:http://en.wikipedia.org/wiki/Herpes_zoster url:http://www.nlm.nih.gov/medlineplus/ency/article/000858.htm Shingles SNOMEDCT_2005_07_31:186514003 herpes zona CSP2005:3099-9793 DOID:8537 ICD9CM:200.0 ICD9CM:200.7 MESH:D008228 NCI:C27824 OMIM:267730 SNOMEDCT_US_2016_03_01:118604003 SNOMEDCT_US_2016_03_01:154579006 SNOMEDCT_US_2016_03_01:188488003 SNOMEDCT_US_2016_03_01:188497004 SNOMEDCT_US_2016_03_01:189982000 SNOMEDCT_US_2016_03_01:189983005 SNOMEDCT_US_2016_03_01:189986002 SNOMEDCT_US_2016_03_01:190012002 SNOMEDCT_US_2016_03_01:373168002 SNOMEDCT_US_2016_03_01:40152000 UMLS_CUI:C0024302 histiocytic lymphoma large-cell Lymphomas disease_ontology DOID:8538 OMIM mapping confirmed by DO. [SN]. reticulosarcoma histiocytic lymphoma CSP2005:2004-7036 large-cell Lymphomas MTH:NOCODE Manic disorder, recurrent episode, in full remission recurrent manic episodes, in full remission (disorder) disease_ontology DOID:8539 recurrent manic episodes in full remission true Manic disorder, recurrent episode, in full remission ICD9CM_2006:296.16 recurrent manic episodes, in full remission (disorder) SNOMEDCT_2005_07_31:191597008 MESH:D003095 NCI:C27204 SNOMEDCT_US_2016_03_01:156458006 SNOMEDCT_US_2016_03_01:201434000 SNOMEDCT_US_2016_03_01:201454004 SNOMEDCT_US_2016_03_01:268048008 SNOMEDCT_US_2016_03_01:81573002 UMLS_CUI:C0009326 collagen disorder disease_ontology DOID:854 collagen disease collagen disorder CSP2005:0729-7550 Sezary's disease involving lymph nodes of head, face and neck Sezary's disease of lymph nodes of head, face and neck (disorder) Szary's disease of lymph nodes of head, face and/or neck (disorder) disease_ontology DOID:8540 Sezary's disease involving lymph nodes of head, face, and neck true Sezary's disease involving lymph nodes of head, face and neck MTHICD9_2006:202.21 Sezary's disease of lymph nodes of head, face and neck (disorder) SNOMEDCT_2005_07_31:188630009 Szary's disease of lymph nodes of head, face and/or neck (disorder) SNOMEDCT_2005_07_31:95260009 DOID:8790 ICD10CM:C84.1 ICD10CM:C84.10 ICD9CM:202.2 MESH:D012751 NCI:C3366 SNOMEDCT_US_2016_03_01:118611004 SNOMEDCT_US_2016_03_01:188629004 SNOMEDCT_US_2016_03_01:188638002 SNOMEDCT_US_2016_03_01:4950009 UMLS_CUI:C0036920 Sezary disease Sezary syndrome disease_ontology DOID:8541 Sezary's disease Sezary syndrome MTH:U002240 Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of axilla and upper limb (disorder) Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of axilla and/or upper limb (disorder) disease_ontology Hodgkin's disease, lymphocytic-histiocytic predominance involving lymph nodes of axilla and upper limb DOID:8542 Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving lymph nodes of axilla and upper limb true Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of axilla and upper limb (disorder) SNOMEDCT_2005_07_31:188558005 Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of axilla and/or upper limb (disorder) SNOMEDCT_2005_07_31:93496009 ICD10CM:C81.4 ICD9CM:201.4 MESH:D006689 NCI:C6913 SNOMEDCT_US_2016_03_01:118607005 SNOMEDCT_US_2016_03_01:128799007 SNOMEDCT_US_2016_03_01:188553001 SNOMEDCT_US_2016_03_01:188563009 SNOMEDCT_US_2016_03_01:189988001 SNOMEDCT_US_2016_03_01:59668005 UMLS_CUI:C1266194 Hodgkin lymphoma, lymphocyte-rich (disorder) Hodgkin lymphoma, lymphocytic-histiocytic predominance Hodgkin's disease, lymphocyte predominance [obs] Lymphocyte Rich Hodgkin's disease disease_ontology DOID:8543 Hodgkin's lymphoma, lymphocytic-histiocytic predominance Hodgkin lymphoma, lymphocyte-rich (disorder) SNOMEDCT_2005_07_31:118607005 Hodgkin's disease, lymphocyte predominance [obs] SNOMEDCT_2005_07_31:128799007 Lymphocyte Rich Hodgkin's disease NCI2004_11_17:C6913 A syndrome that involves prolonged and severe tiredness or weariness that is unrelated to exertion, is not relieved by rest and for a minimum of six months and is not directly caused by other conditions. ICD10CM:G93.3 ICD10CM:R53.82 ICD9CM:780.71 MESH:D015673 NCI:C3037 SNOMEDCT_US_2016_03_01:154989001 SNOMEDCT_US_2016_03_01:154991009 SNOMEDCT_US_2016_03_01:155062000 SNOMEDCT_US_2016_03_01:192735003 SNOMEDCT_US_2016_03_01:193054000 SNOMEDCT_US_2016_03_01:247372003 SNOMEDCT_US_2016_03_01:267683005 SNOMEDCT_US_2016_03_01:267684004 SNOMEDCT_US_2016_03_01:271798008 SNOMEDCT_US_2016_03_01:51771007 SNOMEDCT_US_2016_03_01:52702003 UMLS_CUI:C0015674 CFS Myalgic encephalitis Myalgic encephalomyelitis Postviral fatigue syndrome (disorder) disease_ontology DOID:8544 No OMIM mapping, confirmed by DO. [LS]. chronic fatigue syndrome A syndrome that involves prolonged and severe tiredness or weariness that is unrelated to exertion, is not relieved by rest and for a minimum of six months and is not directly caused by other conditions. url:http://en.wikipedia.org/wiki/Chronic_fatigue_syndrome url:http://www.ncbi.nlm.nih.gov/pubmedhealth/?term=Chronic%20fatigue%20syndrome CFS CSP2005:0944-7840 Myalgic encephalitis SNOMEDCT_2005_07_31:154989001 Myalgic encephalomyelitis SNOMEDCT_2005_07_31:154991009 Postviral fatigue syndrome (disorder) SNOMEDCT_2005_07_31:51771007 A genetic disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature. ICD10CM:T88.3 ICD9CM:995.86 MESH:D008305 NCI:C84869 OMIM:145600 OMIM:154275 OMIM:154276 OMIM:600467 OMIM:601887 OMIM:601888 ORDO:423 SNOMEDCT_US_2016_03_01:111738008 SNOMEDCT_US_2016_03_01:157762007 SNOMEDCT_US_2016_03_01:213026003 SNOMEDCT_US_2016_03_01:248453001 SNOMEDCT_US_2016_03_01:269435009 SNOMEDCT_US_2016_03_01:405500008 SNOMEDCT_US_2016_03_01:405501007 UMLS_CUI:C0024591 anesthesia related hyperthermia malignant hyperpyrexia due to anesthesia disease_ontology DOID:8545 Xref MGI. OMIM mapping confirmed by DO. [SN]. malignant hyperthermia A genetic disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature. url:http://en.wikipedia.org/wiki/Malignant_hyperthermia anesthesia related hyperthermia CSP2005:2871-4352 malignant hyperpyrexia due to anesthesia MTHICD9_2006:995.86 DOID:8548 DOID:8733 ICD10CM:L98.4 ICD9CM:707 SNOMEDCT_US_2016_03_01:156423009 SNOMEDCT_US_2016_03_01:156426001 SNOMEDCT_US_2016_03_01:19429009 SNOMEDCT_US_2016_03_01:201259007 UMLS_CUI:C0157738 Callous ulcer (morphologic abnormality) Indolent ulcer (morphologic abnormality) disease_ontology DOID:8549 chronic ulcer of skin Callous ulcer (morphologic abnormality) SNOMEDCT_2005_07_31:295358007 Indolent ulcer (morphologic abnormality) SNOMEDCT_2005_07_31:296375005 A myeloid leukemia that is characterized by over production of white blood cells. DOID:8551 DOID:8606 EFO:0000339 ICD9CM:205.1 KEGG:05220 MESH:D015464 NCI:C3174 OMIM:608232 SNOMEDCT_US_2016_03_01:154592009 SNOMEDCT_US_2016_03_01:188735005 SNOMEDCT_US_2016_03_01:63364005 SNOMEDCT_US_2016_03_01:92818009 UMLS_CUI:C0023473 CML CML - chronic Myelogenous Leukemia Myeloid Leukemia, chronic chronic granulocytic leukemia chronic myelogenous leukemia disease_ontology DOID:8552 OMIM mapping confirmed by DO. [SN]. chronic myeloid leukemia A myeloid leukemia that is characterized by over production of white blood cells. url:http://www.cancer.gov/dictionary?CdrID=46755 CML CSP2005:2004-1700 CML - chronic Myelogenous Leukemia NCI2004_11_17:C3174 Myeloid Leukemia, chronic MTH:NOCODE ICD10CM:L88 ICD9CM:686.01 MESH:D017511 SNOMEDCT_US_2016_03_01:74578003 UMLS_CUI:C0085652 Pyoderma gangrenosum (disorder) disease_ontology DOID:8553 pyoderma gangrenosum Pyoderma gangrenosum (disorder) SNOMEDCT_2005_07_31:74578003 ICD10CM:C10.0 ICD9CM:146.3 SNOMEDCT_US_2016_03_01:363395000 SNOMEDCT_US_2016_03_01:94132005 UMLS_CUI:C0153386 malignant tumor of vallecula (disorder) disease_ontology DOID:8556 vallecula cancer malignant tumor of vallecula (disorder) SNOMEDCT_2005_07_31:363395000 A pharynx cancer that is located_in the oropharynx. DOID:8684 DOID:8851 DOID:8949 DOID:9168 ICD10CM:C10 ICD10CM:C10.2 ICD10CM:C10.3 ICD10CM:C10.8 ICD10CM:C10.9 ICD9CM:146 ICD9CM:146.5 ICD9CM:146.6 ICD9CM:146.7 ICD9CM:146.9 NCI:C7398 SNOMEDCT_US_2016_03_01:187686007 SNOMEDCT_US_2016_03_01:187688008 SNOMEDCT_US_2016_03_01:187691008 SNOMEDCT_US_2016_03_01:363392002 SNOMEDCT_US_2016_03_01:373653002 SNOMEDCT_US_2016_03_01:448868009 SNOMEDCT_US_2016_03_01:93933005 SNOMEDCT_US_2016_03_01:93971002 UMLS_CUI:C0153382 UMLS_CUI:C0153388 UMLS_CUI:C0153389 UMLS_CUI:C0153390 Oropharyngeal carcinoma malignant Oropharyngeal tumor malignant neoplasm of junctional region of oropharynx malignant neoplasm of lateral wall of oropharynx malignant neoplasm of oropharynx malignant neoplasm of posterior wall of oropharynx malignant tumor of oropharynx (disorder) malignant tumor of posterior wall of oropharynx (disorder) malignant tumour of mesopharynx (disorder) oropharyngeal cancer primary malignant neoplasm of lateral wall of oropharynx disease_ontology DOID:8557 oropharynx cancer A pharynx cancer that is located_in the oropharynx. url:http://www.cancer.gov/dictionary?CdrID=446523 Oropharyngeal carcinoma NCI2004_11_17:C9105 malignant Oropharyngeal tumor NCI2004_11_17:C7398 malignant neoplasm of lateral wall of oropharynx MTH:U000704 malignant neoplasm of oropharynx MTH:NOCODE malignant tumor of oropharynx (disorder) SNOMEDCT_2005_07_31:363392002 malignant tumor of posterior wall of oropharynx (disorder) SNOMEDCT_2005_07_31:187688008 malignant tumour of mesopharynx (disorder) SNOMEDCT_2005_07_31:373653002 oropharyngeal cancer CSP2005:2013-1302 primary malignant neoplasm of lateral wall of oropharynx SNOMEDCT_2005_07_31:93862005 carcinoma in situ of other and unspecified female genital organs (disorder) disease_ontology DOID:8559 carcinoma in situ of female genital organs true carcinoma in situ of other and unspecified female genital organs (disorder) SNOMEDCT_2005_07_31:189344000 A multiple carboxylase deficiency that involves a deficiency in biotinidase. ICD10CM:D81.810 MESH:D028921 NCI:C84598 OMIM:253260 SNOMEDCT_US_2016_03_01:124513002 SNOMEDCT_US_2016_03_01:8808004 UMLS_CUI:C0220754 BTD deficiency Juvenile-onset multiple carboxylase deficiency Late-onset multiple carboxylase deficiency deficiency of biotinidase (disorder) disease_ontology DOID:856 OMIM mapping confirmed by DO. [SN]. biotinidase deficiency A multiple carboxylase deficiency that involves a deficiency in biotinidase. url:http://en.wikipedia.org/wiki/Multiple_carboxylase_deficiency url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=79241 deficiency of biotinidase (disorder) SNOMEDCT_2005_07_31:124513002 carcinoma in situ of breast and genitourinary system (disorder) disease_ontology DOID:8560 carcinoma in situ of breast and genitourinary system true carcinoma in situ of breast and genitourinary system (disorder) SNOMEDCT_2005_07_31:189335001 DOID:8563 DOID:8605 DOID:8975 DOID:9031 DOID:9135 ICD10CM:C00 ICD10CM:C00.9 ICD9CM:140 ICD9CM:140.6 ICD9CM:140.8 MESH:D008048 NCI:C7485 SNOMEDCT_US_2016_03_01:187599002 SNOMEDCT_US_2016_03_01:187625008 SNOMEDCT_US_2016_03_01:187626009 SNOMEDCT_US_2016_03_01:309808004 SNOMEDCT_US_2016_03_01:363348004 SNOMEDCT_US_2016_03_01:363374005 SNOMEDCT_US_2016_03_01:93762003 SNOMEDCT_US_2016_03_01:93869001 UMLS_CUI:C0153340 UMLS_CUI:C0153346 UMLS_CUI:C0153347 malignant neoplasm of commissure of lip malignant neoplasm of external Lip, not specified as upper or lower malignant neoplasm of labial commissure of lip malignant neoplasm of lip unspecified, inner aspect (disorder) malignant neoplasm of lip, inner aspect malignant neoplasm of lip, inner aspect NOS (disorder) malignant neoplasm of lip, unspecified malignant neoplasm of lip, unspecified (disorder) malignant neoplasm of lip, unspecified, external (disorder) malignant neoplasm of lip, unspecified, inner aspect malignant neoplasm of lip, unspecified, vermilion border malignant neoplasm of lip, vermilion border NOS (disorder) malignant neoplasm of lower lip, buccal aspect (disorder) malignant neoplasm of lower lip, inner aspect NOS (disorder) malignant neoplasm of lower lip, mucosa (disorder) malignant neoplasm of lower lip, oral aspect malignant neoplasm of oral aspect of lip, not specified whether upper or lower malignant neoplasm of other sites of lip malignant neoplasm of other sites of lip (disorder) malignant neoplasm of vermilion border of lip malignant neoplasm of vermilion border of lip unspecified (disorder) malignant tumor of commissure of lip malignant tumor of commissure of lip (disorder) malignant tumor of labial mucosa (disorder) malignant tumor of lip (disorder) malignant tumor of lower labial mucosa (disorder) malignant tumor of the Lip malignant tumour of labial commissure malignant tumour of lip disease_ontology DOID:8564 lip cancer malignant neoplasm of external Lip, not specified as upper or lower MTHICD9_2006:140.9 malignant neoplasm of labial commissure of lip MTHICD9_2006:140.6 malignant neoplasm of lip unspecified, inner aspect (disorder) SNOMEDCT_2005_07_31:187618001 malignant neoplasm of lip, inner aspect MTH:NOCODE malignant neoplasm of lip, inner aspect NOS (disorder) SNOMEDCT_2005_07_31:187623001 malignant neoplasm of lip, unspecified SNOMEDCT_2005_07_31:187625008 malignant neoplasm of lip, unspecified (disorder) SNOMEDCT_2005_07_31:309808004 malignant neoplasm of lip, unspecified, external (disorder) SNOMEDCT_2005_07_31:187628005 malignant neoplasm of lip, vermilion border NOS (disorder) SNOMEDCT_2005_07_31:187630007 malignant neoplasm of lower lip, buccal aspect (disorder) SNOMEDCT_2005_07_31:187613005 malignant neoplasm of lower lip, inner aspect NOS (disorder) SNOMEDCT_2005_07_31:187617006 malignant neoplasm of lower lip, mucosa (disorder) SNOMEDCT_2005_07_31:187615003 malignant neoplasm of lower lip, oral aspect MTHICD9_2006:140.4 malignant neoplasm of oral aspect of lip, not specified whether upper or lower MTHICD9_2006:140.5 malignant neoplasm of other sites of lip (disorder) SNOMEDCT_2005_07_31:187626009 malignant neoplasm of vermilion border of lip SNOMEDCT_2005_07_31:94135007 malignant neoplasm of vermilion border of lip unspecified (disorder) SNOMEDCT_2005_07_31:187627000 malignant tumor of commissure of lip MTH:NOCODE malignant tumor of commissure of lip (disorder) SNOMEDCT_2005_07_31:363374005 malignant tumor of labial mucosa (disorder) SNOMEDCT_2005_07_31:187622006 malignant tumor of lip (disorder) SNOMEDCT_2005_07_31:363348004 malignant tumor of lower labial mucosa (disorder) SNOMEDCT_2005_07_31:271568003 malignant tumor of the Lip NCI2004_11_17:C7485 malignant tumour of labial commissure SNOMEDCT_2005_07_31:93762003 malignant tumour of lip SNOMEDCT_2005_07_31:93869001 A viral infectious disease that results_in_formation_of lesions, located_in mouth, located_in face, located_in genitalia, or located_in hands, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which are transmitted_by direct contact with an active lesion or body fluid of an infected person. DOID:8763 DOID:9012 DOID:9239 ICD10CM:B00 ICD10CM:B00.9 ICD9CM:054 MESH:D006561 SNOMEDCT_US_2016_03_01:154332007 SNOMEDCT_US_2016_03_01:186534002 SNOMEDCT_US_2016_03_01:266191005 SNOMEDCT_US_2016_03_01:88594005 UMLS_CUI:C0019348 Herpesvirus hominis disease disease_ontology DOID:8566 herpes simplex A viral infectious disease that results_in_formation_of lesions, located_in mouth, located_in face, located_in genitalia, or located_in hands, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which are transmitted_by direct contact with an active lesion or body fluid of an infected person. url:http://en.wikipedia.org/wiki/Herpes_simplex url:http://www.aad.org/public/publications/pamphlets/viral_herpes_simplex.html Herpesvirus hominis disease CSP2005:3099-9580 A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell. DOID:0060059 DOID:8652 DOID:8671 DOID:8685 DOID:8710 DOID:8715 DOID:8841 DOID:8953 DOID:9096 DOID:9107 EFO:0000183 ICD10CM:C81 ICD10CM:C81.9 ICD9CM:201 ICD9CM:201.0 ICD9CM:201.1 ICD9CM:201.2 ICD9CM:201.9 MESH:D006689 NCI:C26956 NCI:C6914 NCI:C9357 OMIM:236000 OMIM:300221 OMIM:400021 ORDO:98293 SNOMEDCT_US_2016_03_01:118599009 SNOMEDCT_US_2016_03_01:118602004 SNOMEDCT_US_2016_03_01:118605002 SNOMEDCT_US_2016_03_01:118606001 SNOMEDCT_US_2016_03_01:14537002 SNOMEDCT_US_2016_03_01:154582001 SNOMEDCT_US_2016_03_01:188521005 SNOMEDCT_US_2016_03_01:188522003 SNOMEDCT_US_2016_03_01:188532005 SNOMEDCT_US_2016_03_01:188533000 SNOMEDCT_US_2016_03_01:188542007 SNOMEDCT_US_2016_03_01:188543002 SNOMEDCT_US_2016_03_01:188552006 SNOMEDCT_US_2016_03_01:188595005 SNOMEDCT_US_2016_03_01:188596006 SNOMEDCT_US_2016_03_01:188605006 SNOMEDCT_US_2016_03_01:189987006 SNOMEDCT_US_2016_03_01:189991001 SNOMEDCT_US_2016_03_01:189992008 SNOMEDCT_US_2016_03_01:269509006 SNOMEDCT_US_2016_03_01:309831004 SNOMEDCT_US_2016_03_01:46923007 SNOMEDCT_US_2016_03_01:52337003 SNOMEDCT_US_2016_03_01:70600005 SNOMEDCT_US_2016_03_01:74189002 UMLS_CUI:C0019829 HL Hodgkin disease Hodgkin lymphoma Hodgkin's sarcoma Hodgkins lymphoma stage I Subdiaphragmatic Hodgkin Lymphoma stage II Subdiaphragmatic Hodgkin Lymphoma disease_ontology DOID:8567 Xref MGI. OMIM mapping confirmed by DO. [SN]. Hodgkin's lymphoma A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell. url:v HL NCI2004_11_17:C9357 Hodgkin disease MTH:NOCODE Hodgkin's sarcoma ICD9CM_2006:201.2 stage I Subdiaphragmatic Hodgkin Lymphoma NCI2004_11_17:C5012 stage II Subdiaphragmatic Hodgkin Lymphoma NCI2004_11_17:C5010 A viral infectious disease that results_in inflammation, located_in pharynx, has_material_basis_in Human herpesvirus 4 and has_symptom fever, has_symptom fatigue, has_symptom lymphadenopathy, and has_symptom splenomegaly. ICD10CM:B27 ICD10CM:B27.0 ICD10CM:B27.9 ICD9CM:075 MESH:D007244 NCI:C34726 SNOMEDCT_US_2016_03_01:154359004 SNOMEDCT_US_2016_03_01:186667007 SNOMEDCT_US_2016_03_01:186668002 SNOMEDCT_US_2016_03_01:186670006 SNOMEDCT_US_2016_03_01:187460007 SNOMEDCT_US_2016_03_01:26851006 SNOMEDCT_US_2016_03_01:271558008 SNOMEDCT_US_2016_03_01:314131007 UMLS_CUI:C0021345 Filatov's disease Gammaherpesviral mononucleosis (disorder) Monocytic angina Pfeiffer's disease Pfeiffer's disease (disorder) glandular fever mononucleosis disease_ontology DOID:8568 infectious mononucleosis A viral infectious disease that results_in inflammation, located_in pharynx, has_material_basis_in Human herpesvirus 4 and has_symptom fever, has_symptom fatigue, has_symptom lymphadenopathy, and has_symptom splenomegaly. url:http://en.wikipedia.org/wiki/Infectious_mononucleosis url:http://www.cdc.gov/ncidod/diseases/ebv.htm Gammaherpesviral mononucleosis (disorder) SNOMEDCT_2005_07_31:186668002 Monocytic angina MTHICD9_2006:075 Pfeiffer's disease SNOMEDCT_2005_07_31:186670006 Pfeiffer's disease (disorder) SNOMEDCT_2005_07_31:314131007 mononucleosis CSP2005:0427-6541 An amino acid metabolic disorder that involves failures of carboxylation enzymes. ICD10CM:D81.81 ICD10CM:D81.819 MESH:D009100 SNOMEDCT_US_2016_03_01:62151000119109 UMLS_CUI:C0026755 disease_ontology DOID:857 multiple carboxylase deficiency An amino acid metabolic disorder that involves failures of carboxylation enzymes. url:http://en.wikipedia.org/wiki/Multiple_carboxylase_deficiency url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=148 ICD10CM:L44.1 ICD9CM:697.1 MESH:D017513 SNOMEDCT_US_2016_03_01:25147002 SNOMEDCT_US_2016_03_01:41890004 UMLS_CUI:C0162849 Pinkus' disease disease_ontology DOID:8573 lichen nitidus Pinkus' disease MTHICD9_2006:697.1 ICD10CM:L28.0 ICD9CM:697 ICD9CM:697.9 SNOMEDCT_US_2016_03_01:156376003 SNOMEDCT_US_2016_03_01:156379005 SNOMEDCT_US_2016_03_01:200998004 SNOMEDCT_US_2016_03_01:201010002 SNOMEDCT_US_2016_03_01:88996004 UMLS_CUI:C0023643 disease_ontology DOID:8574 lichen disease A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores. DOID:8576 DOID:9016 EFO:0000729 ICD10CM:K51 ICD10CM:K51.9 ICD9CM:556 ICD9CM:556.5 ICD9CM:556.9 MESH:D003093 NCI:C2952 SNOMEDCT_US_2016_03_01:155764007 SNOMEDCT_US_2016_03_01:196985000 SNOMEDCT_US_2016_03_01:196988003 SNOMEDCT_US_2016_03_01:196996008 SNOMEDCT_US_2016_03_01:266447004 SNOMEDCT_US_2016_03_01:27701000 SNOMEDCT_US_2016_03_01:441971007 SNOMEDCT_US_2016_03_01:64766004 SNOMEDCT_US_2016_03_01:68195006 UMLS_CUI:C0009324 UMLS_CUI:C0375359 Left-sided ulcerative colitis disease_ontology DOID:8577 OMIM mapping confirmed by DO. [LS]. ulcerative colitis A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores. MESH:D003093 url:http://en.wikipedia.org/wiki/Ulcerative_colitis Left-sided ulcerative colitis MTHICD9_2006:556.5 ICD10CM:C05.1 ICD9CM:145.3 NCI:C3529 SNOMEDCT_US_2016_03_01:363388009 SNOMEDCT_US_2016_03_01:94049001 UMLS_CUI:C0153376 malignant tumor of soft palate (disorder) malignant tumor of the soft Palate disease_ontology DOID:8578 soft palate cancer malignant tumor of soft palate (disorder) SNOMEDCT_2005_07_31:363388009 malignant tumor of the soft Palate NCI2004_11_17:C3529 DOID:8579 ICD10CM:C96.A ICD9CM:202.3 MESH:D054747 NCI:C7202 SNOMEDCT_US_2016_03_01:118612006 SNOMEDCT_US_2016_03_01:128920006 SNOMEDCT_US_2016_03_01:134179007 SNOMEDCT_US_2016_03_01:188643009 SNOMEDCT_US_2016_03_01:188690006 SNOMEDCT_US_2016_03_01:277648007 SNOMEDCT_US_2016_03_01:66855003 SNOMEDCT_US_2016_03_01:8139000 UMLS_CUI:C0019623 Histiocytic medullary reticulosis [obs] Stewart's granuloma malignant midline reticulosis malignant reticulosis disease_ontology DOID:8580 malignant histiocytosis Histiocytic medullary reticulosis [obs] SNOMEDCT_2005_07_31:128920006 Stewart's granuloma SNOMEDCT_2005_07_31:277648007 malignant midline reticulosis SNOMEDCT_2005_07_31:66855003 malignant reticulosis MTHICD9_2006:202.3 Burkitt's lymphoma of intrathoracic lymph nodes (disorder) disease_ontology DOID:8583 Burkitt's tumor or lymphoma involving intrathoracic lymph nodes true Burkitt's lymphoma of intrathoracic lymph nodes (disorder) SNOMEDCT_2005_07_31:188511002 A mature B-cell neoplasm of B-cells found in the germinal center. ICD10CM:C83.7 ICD10CM:C83.70 ICD9CM:200.2 MESH:D002051 NCI:C2912 NCI:C7400 OMIM:113970 SNOMEDCT_US_2016_03_01:118617000 SNOMEDCT_US_2016_03_01:154581008 SNOMEDCT_US_2016_03_01:188509006 SNOMEDCT_US_2016_03_01:188518008 SNOMEDCT_US_2016_03_01:190022008 SNOMEDCT_US_2016_03_01:190023003 SNOMEDCT_US_2016_03_01:22197008 SNOMEDCT_US_2016_03_01:277571004 SNOMEDCT_US_2016_03_01:397400006 SNOMEDCT_US_2016_03_01:77381001 UMLS_CUI:C0006413 Burkitt lymphoma/leukaemia Burkitt's Lymphoma Burkitt's tumor Burkitt's tumor or lymphoma malignant lymphoma, Burkitt's type small Non-Cleaved cell Lymphoma, Burkitt's type disease_ontology DOID:8584 OMIM mapping confirmed by DO. [SN]. Burkitt lymphoma A mature B-cell neoplasm of B-cells found in the germinal center. url:http://en.wikipedia.org/wiki/Burkitt%27s_lymphoma url:http://www.cancer.gov/dictionary?CdrID=45203 Burkitt lymphoma/leukaemia SNOMEDCT_2005_07_31:397400006 Burkitt's Lymphoma MTH:NOCODE Burkitt's tumor CSP2005:2004-6947 malignant lymphoma, Burkitt's type MTHICD9_2006:200.2 small Non-Cleaved cell Lymphoma, Burkitt's type NCI2004_11_17:C2912 DOID:8585 DOID:8796 Cervix Dysplasia Dysplasia of cervix (disorder) Dysplasia of cervix (uteri) Dysplasia of cervix NOS (disorder) Dysplasia of cervix uteri Dysplasia of cervix uteri (disorder) Low-grade Intraepithelial Neoplasia of Cervix Uteri Mild dysplasia of cervix Moderate dysplasia of cervix Moderate squamous Dysplasia of the Cervix cervical dysplasia cervical dysplasia NOS cervical intraepithelial neoplasia I [CIN I] cervical intraepithelial neoplasia grade 1 cervical intraepithelial neoplasia grade 1 (disorder) cervical intraepithelial neoplasia grade 2 cervical intraepithelial neoplasia grade 2 (disorder) disease_ontology DOID:8586 dysplasia of cervix true Cervix Dysplasia MTH:167 Dysplasia of cervix (disorder) SNOMEDCT_2005_07_31:73391008 Dysplasia of cervix (uteri) ICD9CM_2006:622.1 Dysplasia of cervix NOS (disorder) SNOMEDCT_2005_07_31:198345008 Dysplasia of cervix uteri MTHICD9_2006:622.1 Dysplasia of cervix uteri SNOMEDCT_2005_07_31:156012002 Dysplasia of cervix uteri SNOMEDCT_2005_07_31:198340003 Dysplasia of cervix uteri (disorder) SNOMEDCT_2005_07_31:270495002 Low-grade Intraepithelial Neoplasia of Cervix Uteri NCI2004_11_17:C4630 Moderate squamous Dysplasia of the Cervix NCI2004_11_17:C40198 cervical dysplasia MTH:NOCODE cervical dysplasia NOS MTHICD9_2006:622.10 cervical intraepithelial neoplasia I [CIN I] MTHICD9_2006:622.11 cervical intraepithelial neoplasia grade 1 MTH:NOCODE SNOMEDCT_2005_07_31:198342006 cervical intraepithelial neoplasia grade 1 (disorder) SNOMEDCT_2005_07_31:285836003 cervical intraepithelial neoplasia grade 2 MTH:NOCODE SNOMEDCT_2005_07_31:198343001 cervical intraepithelial neoplasia grade 2 (disorder) SNOMEDCT_2005_07_31:285838002 disease_ontology DOID:8587 Burkitt's tumor or lymphoma extranodal and solid organ sites true A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase. ICD10CM:D81.818 MESH:D028922 NCI:C98842 NCI:C99247 OMIM:253270 SNOMEDCT_US_2016_03_01:15307001 SNOMEDCT_US_2016_03_01:237956003 SNOMEDCT_US_2016_03_01:360367001 SNOMEDCT_US_2016_03_01:360369003 UMLS_CUI:C0268581 Biotin-(propionyl-CoA-carboxylase) ligase deficiency (disorder) Multiple carboxylase deficiency - neonatal onset (disorder) disease_ontology DOID:859 OMIM mapping confirmed by DO. [SN]. holocarboxylase synthetase deficiency A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase. url:http://en.wikipedia.org/wiki/Multiple_carboxylase_deficiency Biotin-(propionyl-CoA-carboxylase) ligase deficiency (disorder) SNOMEDCT_2005_07_31:15307001 Multiple carboxylase deficiency - neonatal onset (disorder) SNOMEDCT_2005_07_31:360367001 ICD9CM:557.0 NCI:C34356 SNOMEDCT_US_2016_03_01:196998009 SNOMEDCT_US_2016_03_01:197004007 SNOMEDCT_US_2016_03_01:91489000 UMLS_CUI:C0001363 acute GIT vascular insuffic. acute gastrointestinal tract vascular insuffic. (disorder) acute intestinal Ischemia acute intestinal vascular insufficiency disease_ontology DOID:8590 acute vascular insufficiency of intestine acute GIT vascular insuffic. SNOMEDCT_2005_07_31:155766009 acute gastrointestinal tract vascular insuffic. (disorder) SNOMEDCT_2005_07_31:266519001 acute intestinal Ischemia NCI2004_11_17:C34356 acute intestinal vascular insufficiency SNOMEDCT_2005_07_31:196998009 Reticulosarcoma of lymph nodes of inguinal region and lower limb (disorder) disease_ontology DOID:8592 reticulosarcoma involving lymph nodes of inguinal region and lower limb true Reticulosarcoma of lymph nodes of inguinal region and lower limb (disorder) SNOMEDCT_2005_07_31:188493000 Reticulosarcoma of lymph nodes of inguinal region and lower limb (disorder) SNOMEDCT_2005_07_31:95229009 DOID:9194 ICD10CM:C93.1 ICD9CM:206.1 MESH:D007951 NCI:C34774 SNOMEDCT_US_2016_03_01:154595006 SNOMEDCT_US_2016_03_01:188745007 SNOMEDCT_US_2016_03_01:190060004 SNOMEDCT_US_2016_03_01:37810007 SNOMEDCT_US_2016_03_01:46236001 SNOMEDCT_US_2016_03_01:92816008 UMLS_CUI:C0023466 disease_ontology DOID:8593 chronic monocytic leukemia An upper respiratory tract disease described as an acute contagious disease caused by Group A bacteria of the genus Streptococcus (especially various strains of S. pyogenes) and characterized by inflammation of the nose, throat, and mouth, generalized toxemia, and a red rash. DOID:8597 ICD10CM:A38 ICD10CM:A38.9 ICD9CM:034 ICD9CM:034.1 MESH:D012541 NCI:C94575 SNOMEDCT_US_2016_03_01:154301006 SNOMEDCT_US_2016_03_01:154303009 SNOMEDCT_US_2016_03_01:154304003 SNOMEDCT_US_2016_03_01:186357007 SNOMEDCT_US_2016_03_01:186362008 SNOMEDCT_US_2016_03_01:30242009 UMLS_CUI:C0036285 UMLS_CUI:C0343487 Scarlatina disease_ontology DOID:8596 scarlet fever An upper respiratory tract disease described as an acute contagious disease caused by Group A bacteria of the genus Streptococcus (especially various strains of S. pyogenes) and characterized by inflammation of the nose, throat, and mouth, generalized toxemia, and a red rash. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=scarlet%20fever Scarlatina MTHICD9_2006:034.1 disease_ontology DOID:8598 mild degree recurrent episode manic disorder true Sezary's disease of lymph nodes of inguinal region and lower limb (disorder) Szary's disease of lymph nodes of inguinal region and/or lower limb disease_ontology DOID:8599 Sezary's disease involving lymph nodes of inguinal region and lower limb true Sezary's disease of lymph nodes of inguinal region and lower limb (disorder) SNOMEDCT_2005_07_31:188634000 Szary's disease of lymph nodes of inguinal region and/or lower limb SNOMEDCT_2005_07_31:95261008 Excessive serotonin secretion Hormone secretion by carcinoid tumors disease_ontology Hormonal tumour DOID:8600 carcinoid syndrome true Excessive serotonin secretion SNOMEDCT_2005_07_31:190580007 Hormone secretion by carcinoid tumors MTHICD9_2006:259.2 Hormonal tumour SNOMEDCT_2005_07_31:109950000 ICD10CM:C03.0 ICD9CM:143.0 SNOMEDCT_US_2016_03_01:363383000 SNOMEDCT_US_2016_03_01:94114005 UMLS_CUI:C0153365 malignant tumor of upper gingiva malignant tumor of upper gingiva (disorder) malignant tumour of upper gum disease_ontology DOID:8601 upper gum cancer malignant tumor of upper gingiva MTH:U001011 malignant tumor of upper gingiva (disorder) SNOMEDCT_2005_07_31:363383000 malignant tumour of upper gum SNOMEDCT_2005_07_31:94114005 DOID:8734 ICD10CM:C03 ICD10CM:C03.9 ICD9CM:143 ICD9CM:143.9 NCI:C9317 SNOMEDCT_US_2016_03_01:187651005 SNOMEDCT_US_2016_03_01:363382005 SNOMEDCT_US_2016_03_01:93819009 UMLS_CUI:C0153364 malignant Gingival tumor malignant neoplasm of gum malignant neoplasm of gum NOS (disorder) malignant neoplasm of other sites of gum malignant neoplasm of other sites of gum (disorder) malignant tumor of gum (disorder) malignant tumour of gingiva disease_ontology DOID:8602 gum cancer malignant Gingival tumor NCI2004_11_17:C9317 malignant neoplasm of gum ICD9CM_2006:143 malignant neoplasm of gum NOS (disorder) SNOMEDCT_2005_07_31:187651005 malignant neoplasm of other sites of gum (disorder) SNOMEDCT_2005_07_31:187650006 malignant tumor of gum (disorder) SNOMEDCT_2005_07_31:363382005 malignant tumour of gingiva SNOMEDCT_2005_07_31:93819009 Hodgkin's disease, lymphocytic-histiocytic predominance of intrapelvic lymph nodes (disorder) Hodgkin's disease, lymphocytic-histiocytic predominance of intrapelvic lymph nodes [dup] (disorder) disease_ontology Hodgkin's disease, lymphocytic-histiocytic predominance involving intrapelvic lymph nodes DOID:8604 Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving intrapelvic lymph nodes true Hodgkin's disease, lymphocytic-histiocytic predominance of intrapelvic lymph nodes (disorder) SNOMEDCT_2005_07_31:93494007 Hodgkin's disease, lymphocytic-histiocytic predominance of intrapelvic lymph nodes [dup] (disorder) SNOMEDCT_2005_07_31:188560007 A herpes simplex that results_in infection located_in skin of the finger, toe, or thumb, has_material_basis_in Human herpesvirus 1 and has_material_basis_in Human herpesvirus 2 and has_symptom lesions, has_symptom fever, and has_symptom swollen lymph nodes. ICD9CM:054.6 SNOMEDCT_US_2016_03_01:43891009 UMLS_CUI:C0153042 Herpetic felon disease_ontology DOID:8607 herpetic whitlow A herpes simplex that results_in infection located_in skin of the finger, toe, or thumb, has_material_basis_in Human herpesvirus 1 and has_material_basis_in Human herpesvirus 2 and has_symptom lesions, has_symptom fever, and has_symptom swollen lymph nodes. url:http://en.wikipedia.org/wiki/Herpetic_whitlow Herpetic felon MTHICD9_2006:054.6 disease_ontology DOID:8609 moderate degree recurrent episode manic disease true disease_ontology DOID:8611 drug induced sleep disorder true DOID:8889 spontaneous abortion complicated by shock (disorder) spontaneous abortion, unspecified, complicated by shock disease_ontology DOID:8615 spontaneous abortion complicated by shock true spontaneous abortion complicated by shock (disorder) SNOMEDCT_2005_07_31:34270000 ICD10CM:N48.6 ICD9CM:607.85 MESH:D010411 NCI:C3316 OMIM:171000 SNOMEDCT_US_2016_03_01:1335005 SNOMEDCT_US_2016_03_01:155931002 SNOMEDCT_US_2016_03_01:198028006 UMLS_CUI:C0030848 Induratio penis plastica Peyronie disease Peyronie's Fibromatosis disease_ontology DOID:8616 OMIM mapping confirmed by DO. [SN]. Peyronie's disease Induratio penis plastica MTHICD9_2006:607.81 Peyronie disease MTH:NOCODE Peyronie's Fibromatosis NCI2004_11_17:C3316 A gastrointestinal system cancer that is located_in the oral cavity. DOID:0050627 DOID:8617 DOID:9049 DOID:9055 ICD10CM:C04 ICD10CM:C04.0 ICD10CM:C04.1 ICD10CM:C04.9 ICD9CM:144 ICD9CM:144.0 ICD9CM:144.1 ICD9CM:144.9 NCI:C9318 SNOMEDCT_US_2016_03_01:187652003 SNOMEDCT_US_2016_03_01:187653008 SNOMEDCT_US_2016_03_01:187656000 SNOMEDCT_US_2016_03_01:363385007 SNOMEDCT_US_2016_03_01:93672006 SNOMEDCT_US_2016_03_01:93802007 SNOMEDCT_US_2016_03_01:93860002 UMLS_CUI:C0153368 UMLS_CUI:C0153369 UMLS_CUI:C0496758 malignant neoplasm of anterior portion of floor of mouth malignant neoplasm of floor of mouth malignant neoplasm of lateral floor of mouth malignant neoplasm of lateral portion of floor of mouth malignant tumor of anterior floor of mouth (disorder) malignant tumor of lateral floor of mouth (disorder) malignant tumor of the Floor of the Mouth disease_ontology DOID:8618 oral cavity cancer A gastrointestinal system cancer that is located_in the oral cavity. url:http://en.wikipedia.org/wiki/Oral_cancer malignant neoplasm of floor of mouth MTH:NOCODE malignant neoplasm of lateral floor of mouth MTH:U001372 malignant tumor of anterior floor of mouth (disorder) SNOMEDCT_2005_07_31:187652003 malignant tumor of lateral floor of mouth (disorder) SNOMEDCT_2005_07_31:187653008 malignant tumor of the Floor of the Mouth NCI2004_11_17:C9318 A sleep disorder that involves recurring bouts of excessive amounts of sleepiness. ICD10CM:G47.13 ICD9CM:327.13 MESH:D006970 SNOMEDCT_US_2016_03_01:426451004 UMLS_CUI:C0751226 primary recurrent hypersomnia disease_ontology DOID:8619 recurrent hypersomnia A sleep disorder that involves recurring bouts of excessive amounts of sleepiness. url:http://en.wikipedia.org/wiki/Hypersomnia ICD10CM:G83.0 ICD9CM:344.2 SNOMEDCT_US_2016_03_01:192968004 SNOMEDCT_US_2016_03_01:54099005 UMLS_CUI:C0154701 Diplegia of upper limbs (disorder) Diplegia, upper disease_ontology DOID:862 diplegia of upper limb Diplegia of upper limbs (disorder) SNOMEDCT_2005_07_31:54099005 Diplegia, upper MTHICD9_2006:344.2 Reticulosarcoma of intrapelvic lymph nodes Reticulosarcoma of intrapelvic lymph nodes (disorder) disease_ontology DOID:8620 reticulosarcoma involving intrapelvic lymph nodes true Reticulosarcoma of intrapelvic lymph nodes SNOMEDCT_2005_07_31:188494006 Reticulosarcoma of intrapelvic lymph nodes (disorder) SNOMEDCT_2005_07_31:95225003 A viral infectious disease that results_in infection located_in skin, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom fever, has_symptom cough, has_symptom coryza, has_symptom conjunctivitis, and has_symptom maculopapular, erythematous rash. DOID:8621 DOID:8963 DOID:9112 ICD10CM:B05 ICD10CM:B05.9 ICD9CM:055 MESH:D008457 NCI:C96406 SNOMEDCT_US_2016_03_01:14189004 SNOMEDCT_US_2016_03_01:154338006 UMLS_CUI:C0025007 morbilli disease_ontology DOID:8622 measles A viral infectious disease that results_in infection located_in skin, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom fever, has_symptom cough, has_symptom coryza, has_symptom conjunctivitis, and has_symptom maculopapular, erythematous rash. url:http://en.wikipedia.org/wiki/Measles morbilli CSP2005:3100-0554 disease_ontology DOID:8623 adhesions and disruptions of pupillary membranes true A viral infectious disease that results_in pain located_in trigeminal nerve, has_material_basis_in Human herpesvirus 3, which reactivates after the initial infection. The infection has_symptom facial pain. Post-herpetic trigeminal neuralgia Post-herpetic trigeminal neuralgia (disorder) disease_ontology DOID:8625 postherpetic trigeminal neuralgia true A viral infectious disease that results_in pain located_in trigeminal nerve, has_material_basis_in Human herpesvirus 3, which reactivates after the initial infection. The infection has_symptom facial pain. url:http://www.jmedicalcasereports.com/content/3/1/7813 url:http://www.merckmanuals.com/home/sec06/ch096/ch096e.html Post-herpetic trigeminal neuralgia SNOMEDCT_2005_07_31:186519008 Post-herpetic trigeminal neuralgia (disorder) SNOMEDCT_2005_07_31:17974002 Sezary's disease of spleen (disorder) Szary's disease of spleen (disorder) disease_ontology DOID:8626 Sezary's disease involving spleen true Sezary's disease of spleen (disorder) SNOMEDCT_2005_07_31:188636003 Szary's disease of spleen (disorder) SNOMEDCT_2005_07_31:95263006 Hodgkin's disease, lymphocytic depletion of lymph nodes of inguinal region and lower limb (disorder) Hodgkin's disease, lymphocytic depletion of lymph nodes of inguinal region and/or lower limb (disorder) disease_ontology Hodgkin's disease, lymphocytic depletion, involving lymph nodes of inguinal region and lower limb DOID:8627 Hodgkin's lymphoma, lymphocytic depletion, involving lymph nodes of inguinal region and lower limb true Hodgkin's disease, lymphocytic depletion of lymph nodes of inguinal region and lower limb (disorder) SNOMEDCT_2005_07_31:188590000 Hodgkin's disease, lymphocytic depletion of lymph nodes of inguinal region and/or lower limb (disorder) SNOMEDCT_2005_07_31:93489007 DOID:9047 ICD10CM:C81.3 ICD9CM:201.7 MESH:D006689 NCI:C9283 SNOMEDCT_US_2016_03_01:112687003 SNOMEDCT_US_2016_03_01:118610003 SNOMEDCT_US_2016_03_01:134177009 SNOMEDCT_US_2016_03_01:188584004 SNOMEDCT_US_2016_03_01:188594009 UMLS_CUI:C0152267 Hodgkin lymphoma, lymphocyte depletion Hodgkin's disease, lymphocytic depletion Hodgkin's disease, lymphocytic depletion (disorder) Hodgkin's disease, lymphocytic depletion NOS Hodgkin's disease, lymphocytic depletion NOS (disorder) Hodgkin's disease, lymphocytic depletion NOS (morphologic abnormality) Hodgkin's disease, lymphocytic depletion, unspecified site, extranodal and solid organ sites Hodgkin's lymphocytic depletion of unspecified site (disorder) Lymphocyte-Depleted Classical Hodgkin Lymphoma disease_ontology DOID:8628 Hodgkin's lymphoma, lymphocytic depletion Hodgkin lymphoma, lymphocyte depletion SNOMEDCT_2005_07_31:112687003 Hodgkin's disease, lymphocytic depletion (disorder) SNOMEDCT_2005_07_31:118610003 Hodgkin's disease, lymphocytic depletion NOS MTHICD9_2006:201.7 Hodgkin's disease, lymphocytic depletion NOS (disorder) SNOMEDCT_2005_07_31:188594009 Hodgkin's disease, lymphocytic depletion NOS (morphologic abnormality) SNOMEDCT_2005_07_31:134177009 Hodgkin's lymphocytic depletion of unspecified site (disorder) SNOMEDCT_2005_07_31:188584004 Lymphocyte-Depleted Classical Hodgkin Lymphoma NCI2004_11_17:C9283 A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system. ICD10CM:G00-G99 ICD10CM:G98 ICD10CM:G98.8 ICD9CM:349.9 MESH:D009422 NCI:C26835 SNOMEDCT_US_2016_03_01:118940003 SNOMEDCT_US_2016_03_01:154981003 SNOMEDCT_US_2016_03_01:155262005 SNOMEDCT_US_2016_03_01:192641002 SNOMEDCT_US_2016_03_01:267679005 SNOMEDCT_US_2016_03_01:286946008 UMLS_CUI:C0027765 disease_ontology DOID:863 nervous system disease A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system. url:http://en.wikipedia.org/wiki/Nervous_system DOID:8984 ICD10CM:C00.0 ICD10CM:C00.3 ICD9CM:140.0 ICD9CM:140.3 SNOMEDCT_US_2016_03_01:187600004 SNOMEDCT_US_2016_03_01:187601000 SNOMEDCT_US_2016_03_01:187602007 SNOMEDCT_US_2016_03_01:187606005 SNOMEDCT_US_2016_03_01:187607001 SNOMEDCT_US_2016_03_01:187609003 SNOMEDCT_US_2016_03_01:187610008 SNOMEDCT_US_2016_03_01:187611007 SNOMEDCT_US_2016_03_01:363372009 SNOMEDCT_US_2016_03_01:93837005 SNOMEDCT_US_2016_03_01:94137004 UMLS_CUI:C0432579 UMLS_CUI:C0474962 disease_ontology DOID:8630 upper lip cancer A connective tissue cancer that derives_from lymphatic endothelium, and derives_from spindle cells, results_in_formation_of vascular channels that fill with blood cells, has_material_basis_in Human herpesvirus 8 (HHV8). DOID:12761 DOID:12762 DOID:12764 DOID:12766 DOID:12767 DOID:12768 DOID:12770 DOID:12771 DOID:12772 DOID:12774 DOID:12775 DOID:12776 DOID:12777 DOID:12778 DOID:6480 DOID:7239 DOID:8631 ICD10CM:C46 ICD10CM:C46.0 ICD10CM:C46.1 ICD10CM:C46.2 ICD10CM:C46.3 ICD10CM:C46.4 ICD10CM:C46.5 ICD10CM:C46.9 ICD9CM:176 ICD9CM:176.0 ICD9CM:176.1 ICD9CM:176.2 ICD9CM:176.3 ICD9CM:176.4 ICD9CM:176.5 ICD9CM:176.9 MESH:D012514 NCI:C27500 NCI:C3550 NCI:C3551 NCI:C4578 NCI:C4579 NCI:C5363 NCI:C5523 NCI:C5529 NCI:C5602 NCI:C5706 NCI:C5842 NCI:C6377 NCI:C6749 NCI:C7006 NCI:C9087 OMIM:148000 SNOMEDCT_US_2016_03_01:109385007 SNOMEDCT_US_2016_03_01:109386008 SNOMEDCT_US_2016_03_01:109387004 SNOMEDCT_US_2016_03_01:109388009 SNOMEDCT_US_2016_03_01:109390005 SNOMEDCT_US_2016_03_01:109391009 SNOMEDCT_US_2016_03_01:154604006 SNOMEDCT_US_2016_03_01:188029000 SNOMEDCT_US_2016_03_01:188144002 SNOMEDCT_US_2016_03_01:188483007 SNOMEDCT_US_2016_03_01:188775002 SNOMEDCT_US_2016_03_01:190112000 SNOMEDCT_US_2016_03_01:255114007 SNOMEDCT_US_2016_03_01:255115008 SNOMEDCT_US_2016_03_01:49937004 UMLS_CUI:C0036220 UMLS_CUI:C0153560 UMLS_CUI:C0153561 UMLS_CUI:C0153562 UMLS_CUI:C0153563 UMLS_CUI:C0153564 UMLS_CUI:C0153565 UMLS_CUI:C0346935 UMLS_CUI:C0346936 UMLS_CUI:C1332265 UMLS_CUI:C1332847 UMLS_CUI:C1333453 UMLS_CUI:C1333744 UMLS_CUI:C1333776 UMLS_CUI:C1334318 UMLS_CUI:C1334457 UMLS_CUI:C1335372 UMLS_CUI:C1335509 Conjunctival Kaposi's sarcoma Corneal Kaposi's sarcoma Cutaneous Kaposi's sarcoma Kaposi sarcoma Kaposi's sarcoma of Heart Kaposi's sarcoma of anus Kaposi's sarcoma of central nervous system Kaposi's sarcoma of conjunctiva (disorder) Kaposi's sarcoma of cornea (disorder) Kaposi's sarcoma of esophagus Kaposi's sarcoma of gastrointestinal sites Kaposi's sarcoma of lung (disorder) Kaposi's sarcoma of lymph nodes Kaposi's sarcoma of lymph nodes (disorder) Kaposi's sarcoma of palate (disorder) Kaposi's sarcoma of penis Kaposi's sarcoma of skin Kaposi's sarcoma of skin (disorder) Kaposi's sarcoma of soft tissue (disorder) Kaposi's sarcoma of soft tissues (disorder) Kaposi's sarcoma of the CNS Kaposi's sarcoma of the gallbladder Kaposi's sarcoma of the prostate Kaposi's sarcoma, lung Kaposi's sarcoma, skin Palate Kaposi's sarcoma anal Kaposi's sarcoma cardiac Kaposi's sarcoma central nervous system Kaposi's sarcoma conjunctival Kaposi's sarcoma corneal Kaposi's sarcoma cutaneous Kaposi's sarcoma esophageal Kaposi's sarcoma gallbladder Kaposi's sarcoma gastric Kaposi's sarcoma intestinal Kaposi's sarcoma lymph node Kaposi's sarcoma lymphadenopathic Kaposi's sarcoma palate Kaposi's sarcoma penis Kaposi's sarcoma prostate Kaposi's sarcoma pulmonary Kaposi's sarcoma soft tissue Kaposi's sarcoma disease_ontology African lymphadenopathic Kaposi's sarcoma Kaposi's sarcoma-associated herpesvirus (KSHV) DOID:8632 OMIM mapping confirmed by DO. [SN]. Kaposi's sarcoma A connective tissue cancer that derives_from lymphatic endothelium, and derives_from spindle cells, results_in_formation_of vascular channels that fill with blood cells, has_material_basis_in Human herpesvirus 8 (HHV8). url:http://cancerres.aacrjournals.org/content/58/8/1599.full.pdf url:http://en.wikipedia.org/wiki/Kaposi%27s_sarcoma Conjunctival Kaposi's sarcoma NCI2004_11_17:C4578 Corneal Kaposi's sarcoma NCI2004_11_17:C4579 Cutaneous Kaposi's sarcoma NCI2004_11_17:C3550 Kaposi's sarcoma of Heart NCI2004_11_17:C5363 Kaposi's sarcoma of anus NCI2004_11_17:C5602 Kaposi's sarcoma of conjunctiva (disorder) SNOMEDCT_2005_07_31:255114007 Kaposi's sarcoma of cornea (disorder) SNOMEDCT_2005_07_31:255115008 Kaposi's sarcoma of esophagus NCI2004_11_17:C5706 Kaposi's sarcoma of lung (disorder) SNOMEDCT_2005_07_31:109390005 Kaposi's sarcoma of lymph nodes SNOMEDCT_2005_07_31:188775002 Kaposi's sarcoma of lymph nodes (disorder) SNOMEDCT_2005_07_31:109391009 Kaposi's sarcoma of palate (disorder) SNOMEDCT_2005_07_31:109388009 Kaposi's sarcoma of penis NCI2004_11_17:C6377 Kaposi's sarcoma of skin SNOMEDCT_2005_07_31:188144002 Kaposi's sarcoma of skin (disorder) SNOMEDCT_2005_07_31:109386008 Kaposi's sarcoma of soft tissue (disorder) SNOMEDCT_2005_07_31:188029000 Kaposi's sarcoma of soft tissues (disorder) SNOMEDCT_2005_07_31:109387004 Kaposi's sarcoma of the CNS NCI2004_11_17:C7006 Kaposi's sarcoma of the gallbladder NCI2004_11_17:C5842 Kaposi's sarcoma of the prostate NCI2004_11_17:C5523 Kaposi's sarcoma, lung ICD9CM_2006:176.4 Kaposi's sarcoma, skin ICD9CM_2006:176.0 Palate Kaposi's sarcoma NCI2004_11_17:C6749 pulmonary Kaposi's sarcoma NCI2004_11_17:C3551 ICD9CM:557.1 SNOMEDCT_US_2016_03_01:111354009 SNOMEDCT_US_2016_03_01:197005008 SNOMEDCT_US_2016_03_01:197008005 SNOMEDCT_US_2016_03_01:241154007 SNOMEDCT_US_2016_03_01:266448009 UMLS_CUI:C0311262 CMI - chronic mesenteric ischaemia chronic mesenteric ischemia disease_ontology DOID:8633 chronic intestinal vascular insufficiency CMI - chronic mesenteric ischaemia SNOMEDCT_2005_07_31:241154007 chronic mesenteric ischemia MTH:NOCODE ICD10CM:D07.5 ICD9CM:233.4 NCI:C3642 SNOMEDCT_US_2016_03_01:128640002 SNOMEDCT_US_2016_03_01:92691004 UMLS_CUI:C0154088 PIN III carcinoma in situ of prostate grade III PIN disease_ontology DOID:8634 prostate carcinoma in situ PIN III SNOMEDCT_2005_07_31:128640002 carcinoma in situ of prostate SNOMEDCT_2005_07_31:92691004 grade III PIN NCI2004_11_17:C3642 ICD10CM:C05.2 ICD9CM:145.4 NCI:C35177 SNOMEDCT_US_2016_03_01:363389001 SNOMEDCT_US_2016_03_01:94129007 UMLS_CUI:C0153377 malignant Uvular tumor malignant tumor of uvula (disorder) disease_ontology DOID:8635 uvula cancer malignant Uvular tumor NCI2004_11_17:C35177 malignant tumor of uvula (disorder) SNOMEDCT_2005_07_31:363389001 Hodgkin's disease, lymphocytic-histiocytic predominance involving intra-abdominal lymph nodes Hodgkin's disease, lymphocytic-histiocytic predominance of intra-abdominal lymph nodes (disorder) Hodgkin's disease, lymphocytic-histiocytic predominance of intra-abdominal lymph nodes [dup] (disorder) disease_ontology DOID:8638 Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving intra-abdominal lymph nodes true Hodgkin's disease, lymphocytic-histiocytic predominance of intra-abdominal lymph nodes (disorder) SNOMEDCT_2005_07_31:93493001 Hodgkin's disease, lymphocytic-histiocytic predominance of intra-abdominal lymph nodes [dup] (disorder) SNOMEDCT_2005_07_31:188556009 Alcohol Withdrawal Delirium Alcohol withdrawal delirium (disorder) Alcoholic delirium Delirium tremens Mental and behavioral disorder due to use of alcohol: withdrawal state with delirium (disorder) delirium tremens disease_ontology DOID:8639 alcohol withdrawal delirium true Alcohol Withdrawal Delirium MTH:NOCODE Alcohol withdrawal delirium (disorder) SNOMEDCT_2005_07_31:8635005 Alcoholic delirium MTHICD9_2006:291.0 Delirium tremens SNOMEDCT_2005_07_31:154853008 Mental and behavioral disorder due to use of alcohol: withdrawal state with delirium (disorder) SNOMEDCT_2005_07_31:192211007 delirium tremens CSP2005:0080-9468 A vein disease that is characterized by inflammation of a vein. ICD10CM:I80 MESH:D010689 NCI:C38003 SNOMEDCT_US_2016_03_01:195432009 SNOMEDCT_US_2016_03_01:61599003 UMLS_CUI:C0031542 disease_ontology DOID:864 phlebitis A vein disease that is characterized by inflammation of a vein. url:http://en.wikipedia.org/wiki/Phlebitis Reticulosarcoma of lymph nodes of multiple sites Reticulosarcoma of lymph nodes of multiple sites (disorder) disease_ontology DOID:8640 reticulosarcoma involving lymph nodes of multiple sites true Reticulosarcoma of lymph nodes of multiple sites SNOMEDCT_2005_07_31:188496008 Reticulosarcoma of lymph nodes of multiple sites (disorder) SNOMEDCT_2005_07_31:95230004 Hodgkin's paragranuloma of lymph nodes of axilla and upper limb (disorder) Hodgkin's paragranuloma of lymph nodes of axilla and/or upper limb (disorder) disease_ontology DOID:8641 Hodgkin's paragranuloma involving lymph nodes of axilla and upper limb true Hodgkin's paragranuloma of lymph nodes of axilla and upper limb (disorder) SNOMEDCT_2005_07_31:188527009 Hodgkin's paragranuloma of lymph nodes of axilla and/or upper limb (disorder) SNOMEDCT_2005_07_31:93541001 DOID:8951 DOID:8972 Hodgkin paragranuloma disease_ontology DOID:8642 Hodgkin's paragranuloma DOID:8897 DOID:8983 ICD10CM:K29.8 ICD9CM:535.6 MESH:D004382 NCI:C94409 SNOMEDCT_US_2016_03_01:155715004 SNOMEDCT_US_2016_03_01:72007001 UMLS_CUI:C0013298 Hemorrhagic duodenitis disease_ontology DOID:8643 duodenitis Hemorrhagic duodenitis MTH:NOCODE DOID:8571 DOID:8572 DOID:8759 DOID:8776 DOID:8777 DOID:9223 ICD9CM:535.4 SNOMEDCT_US_2016_03_01:196737009 SNOMEDCT_US_2016_03_01:196742001 UMLS_CUI:C0029800 disease_ontology DOID:8644 gastroduodenitis ICD9CM:293.1 MESH:D003693 SNOMEDCT_US_2016_03_01:191507002 SNOMEDCT_US_2016_03_01:191513006 UMLS_CUI:C0154333 Subacute delirium (disorder) disease_ontology DOID:8645 subacute delirium Subacute delirium (disorder) SNOMEDCT_2005_07_31:191507002 ICD9CM:293.89 UMLS_CUI:C0154334 disease_ontology DOID:8646 substance-induced psychosis DOID:8648 DOID:8779 DOID:8900 DOID:8940 DOID:8999 DOID:9058 DOID:9068 DOID:9196 ICD10CM:C01 ICD10CM:C02.0 ICD10CM:C02.1 ICD10CM:C02.2 ICD10CM:C02.4 ICD10CM:C02.9 ICD9CM:141 ICD9CM:141.0 ICD9CM:141.1 ICD9CM:141.2 ICD9CM:141.3 ICD9CM:141.5 ICD9CM:141.6 ICD9CM:141.9 MESH:D014062 NCI:C3524 NCI:C9345 SNOMEDCT_US_2016_03_01:187632004 SNOMEDCT_US_2016_03_01:187633009 SNOMEDCT_US_2016_03_01:187636001 SNOMEDCT_US_2016_03_01:187637005 SNOMEDCT_US_2016_03_01:187638000 SNOMEDCT_US_2016_03_01:187642002 SNOMEDCT_US_2016_03_01:187644001 SNOMEDCT_US_2016_03_01:187646004 SNOMEDCT_US_2016_03_01:363375006 SNOMEDCT_US_2016_03_01:363376007 SNOMEDCT_US_2016_03_01:363377003 SNOMEDCT_US_2016_03_01:371974006 SNOMEDCT_US_2016_03_01:93687001 SNOMEDCT_US_2016_03_01:93773005 SNOMEDCT_US_2016_03_01:93848003 SNOMEDCT_US_2016_03_01:93868009 SNOMEDCT_US_2016_03_01:94100005 SNOMEDCT_US_2016_03_01:94101009 SNOMEDCT_US_2016_03_01:94134006 UMLS_CUI:C0153349 UMLS_CUI:C0153350 UMLS_CUI:C0153351 UMLS_CUI:C0153356 UMLS_CUI:C0474963 UMLS_CUI:C0496755 UMLS_CUI:C0684333 Tongue neoplasm malignant stage Unspecified malignant neoplasm of anterior 2/3 of tongue unspecified (disorder) malignant neoplasm of anterior two-thirds of tongue, part unspecified malignant neoplasm of base of tongue malignant neoplasm of border of tongue malignant neoplasm of dorsal surface of tongue malignant neoplasm of dorsal tongue NOS malignant neoplasm of dorsum of tongue NOS (disorder) malignant neoplasm of fixed part of tongue NOS malignant neoplasm of fixed part of tongue NOS (disorder) malignant neoplasm of junctional zone of tongue malignant neoplasm of lingual tonsil malignant neoplasm of mobile part of tongue NOS malignant neoplasm of other sites of tongue malignant neoplasm of other sites of tongue (disorder) malignant neoplasm of tip and lateral border of tongue malignant neoplasm of tip and/or lateral border of tongue malignant neoplasm of tongue malignant neoplasm of tongue NOS malignant neoplasm of tongue NOS (disorder) malignant neoplasm of tongue, NOS malignant neoplasm of tongue, tip and lateral border (disorder) malignant neoplasm of ventral surface of tongue malignant neoplasm of ventral tongue surface NOS (disorder) malignant tumor of Posterior Tongue malignant tumor of anterior two-thirds of tongue (disorder) malignant tumor of base of tongue (disorder) malignant tumor of lingual tonsil malignant tumor of lingual tonsil (disorder) malignant tumor of mobile part of tongue malignant tumor of tongue (disorder) disease_ontology DOID:8649 tongue cancer Tongue neoplasm malignant stage Unspecified NCI2004_11_17:C9345 malignant neoplasm of anterior 2/3 of tongue unspecified (disorder) SNOMEDCT_2005_07_31:187643007 malignant neoplasm of border of tongue MTH:U001371 malignant neoplasm of dorsal tongue NOS MTHICD9_2006:141.1 malignant neoplasm of dorsum of tongue NOS (disorder) SNOMEDCT_2005_07_31:187636001 malignant neoplasm of fixed part of tongue NOS MTHICD9_2006:141.0 malignant neoplasm of fixed part of tongue NOS (disorder) SNOMEDCT_2005_07_31:187632004 malignant neoplasm of mobile part of tongue NOS MTHICD9_2006:141.4 malignant neoplasm of other sites of tongue (disorder) SNOMEDCT_2005_07_31:187645000 malignant neoplasm of tip and/or lateral border of tongue SNOMEDCT_2005_07_31:371974006 SNOMEDCT_2005_07_31:94100005 malignant neoplasm of tongue ICD9CM_2006:141 malignant neoplasm of tongue MTH:NOCODE malignant neoplasm of tongue NOS MTHICD9_2006:141.9 malignant neoplasm of tongue NOS (disorder) SNOMEDCT_2005_07_31:187646004 malignant neoplasm of tongue, NOS SNOMEDCT_2005_07_31:94101009 malignant neoplasm of tongue, tip and lateral border (disorder) SNOMEDCT_2005_07_31:187637005 malignant neoplasm of ventral tongue surface NOS (disorder) SNOMEDCT_2005_07_31:187642002 malignant tumor of Posterior Tongue NCI2004_11_17:C3524 malignant tumor of anterior two-thirds of tongue (disorder) SNOMEDCT_2005_07_31:363360003 malignant tumor of base of tongue (disorder) SNOMEDCT_2005_07_31:363376007 malignant tumor of lingual tonsil MTH:U001010 malignant tumor of lingual tonsil (disorder) SNOMEDCT_2005_07_31:363377003 malignant tumor of mobile part of tongue SNOMEDCT_2005_07_31:93673001 malignant tumor of tongue (disorder) SNOMEDCT_2005_07_31:363375006 A vascular disease that is characterized by inflammation of the blood vessels. MESH:D014657 NCI:C26912 SNOMEDCT_US_2016_03_01:195375002 SNOMEDCT_US_2016_03_01:266325003 SNOMEDCT_US_2016_03_01:31996006 SNOMEDCT_US_2016_03_01:393589007 UMLS_CUI:C0042384 Angiitis disease_ontology DOID:865 vasculitis A vascular disease that is characterized by inflammation of the blood vessels. url:http://en.wikipedia.org/wiki/Vasculitis url:http://www.nhlbi.nih.gov/health/health-topics/topics/vas/ url:http://www.nlm.nih.gov/medlineplus/vasculitis.html Angiitis SNOMEDCT_2005_07_31:266325003 Hodgkin's granuloma of intrapelvic lymph nodes Hodgkin's granuloma of intrapelvic lymph nodes (disorder) disease_ontology DOID:8650 Hodgkin's granuloma involving intrapelvic lymph nodes true Hodgkin's granuloma of intrapelvic lymph nodes SNOMEDCT_2005_07_31:188539001 Hodgkin's granuloma of intrapelvic lymph nodes (disorder) SNOMEDCT_2005_07_31:93530003 DOID:9102 ICD10CM:C81 ICD10CM:C81.0 ICD10CM:C81.2 ICD10CM:C81.3 ICD10CM:C81.4 ICD10CM:C81.9 ICD9CM:201 ICD9CM:201.0 ICD9CM:201.1 ICD9CM:201.2 ICD9CM:201.4 ICD9CM:201.6 ICD9CM:201.7 ICD9CM:201.9 MESH:D006689 NCI:C26956 NCI:C3517 NCI:C6913 NCI:C6914 NCI:C7258 NCI:C7702 NCI:C9283 NCI:C9357 SNOMEDCT_US_2016_03_01:112687003 SNOMEDCT_US_2016_03_01:118599009 SNOMEDCT_US_2016_03_01:118602004 SNOMEDCT_US_2016_03_01:118605002 SNOMEDCT_US_2016_03_01:118606001 SNOMEDCT_US_2016_03_01:118607005 SNOMEDCT_US_2016_03_01:118609008 SNOMEDCT_US_2016_03_01:118610003 SNOMEDCT_US_2016_03_01:128799007 SNOMEDCT_US_2016_03_01:134177009 SNOMEDCT_US_2016_03_01:14537002 SNOMEDCT_US_2016_03_01:154582001 SNOMEDCT_US_2016_03_01:188521005 SNOMEDCT_US_2016_03_01:188522003 SNOMEDCT_US_2016_03_01:188532005 SNOMEDCT_US_2016_03_01:188533000 SNOMEDCT_US_2016_03_01:188542007 SNOMEDCT_US_2016_03_01:188543002 SNOMEDCT_US_2016_03_01:188552006 SNOMEDCT_US_2016_03_01:188553001 SNOMEDCT_US_2016_03_01:188563009 SNOMEDCT_US_2016_03_01:188574000 SNOMEDCT_US_2016_03_01:188583005 SNOMEDCT_US_2016_03_01:188584004 SNOMEDCT_US_2016_03_01:188594009 SNOMEDCT_US_2016_03_01:188595005 SNOMEDCT_US_2016_03_01:188596006 SNOMEDCT_US_2016_03_01:188605006 SNOMEDCT_US_2016_03_01:189987006 SNOMEDCT_US_2016_03_01:189988001 SNOMEDCT_US_2016_03_01:189991001 SNOMEDCT_US_2016_03_01:189992008 SNOMEDCT_US_2016_03_01:269509006 SNOMEDCT_US_2016_03_01:309831004 SNOMEDCT_US_2016_03_01:41529000 SNOMEDCT_US_2016_03_01:46923007 SNOMEDCT_US_2016_03_01:52337003 SNOMEDCT_US_2016_03_01:59668005 SNOMEDCT_US_2016_03_01:70600005 SNOMEDCT_US_2016_03_01:74189002 UMLS_CUI:C0019829 UMLS_CUI:C0152266 UMLS_CUI:C0152267 UMLS_CUI:C0220597 UMLS_CUI:C1266194 UMLS_CUI:C1334968 Hodgkin granuloma Hodgkin's Granuloma Hodgkin's granuloma of unspecified site (disorder) Hodgkin's granuloma, unspecified site, extranodal and solid organ sites disease_ontology DOID:8651 Hodgkin's granuloma Hodgkin's Granuloma NCI2004_11_17:C6914 Hodgkin's granuloma of unspecified site (disorder) SNOMEDCT_2005_07_31:188533000 Hodgkin's disease, mixed cellularity of intrathoracic lymph nodes Hodgkin's disease, mixed cellularity of intrathoracic lymph nodes (disorder) disease_ontology Hodgkin's disease, mixed cellularity, involving intrathoracic lymph nodes DOID:8653 Hodgkin's lymphoma, mixed cellularity, involving intrathoracic lymph nodes true Hodgkin's disease, mixed cellularity of intrathoracic lymph nodes SNOMEDCT_2005_07_31:93504002 Hodgkin's disease, mixed cellularity of intrathoracic lymph nodes (disorder) SNOMEDCT_2005_07_31:188576003 ICD10CM:C81.2 ICD9CM:201.6 MESH:D006689 NCI:C3517 SNOMEDCT_US_2016_03_01:118609008 SNOMEDCT_US_2016_03_01:188574000 SNOMEDCT_US_2016_03_01:188583005 SNOMEDCT_US_2016_03_01:41529000 UMLS_CUI:C0152266 Hodgkin lymphoma, mixed cellularity Hodgkin's disease, mixed cellularity (disorder) Hodgkin's disease, mixed cellularity NOS (disorder) Hodgkin's disease, mixed cellularity of unspecified site (disorder) MCHL disease_ontology Hodgkin's disease, mixed cellularity DOID:8654 Hodgkin's lymphoma, mixed cellularity Hodgkin lymphoma, mixed cellularity SNOMEDCT_2005_07_31:41529000 Hodgkin's disease, mixed cellularity (disorder) SNOMEDCT_2005_07_31:118609008 Hodgkin's disease, mixed cellularity NOS (disorder) SNOMEDCT_2005_07_31:188583005 Hodgkin's disease, mixed cellularity of unspecified site (disorder) SNOMEDCT_2005_07_31:188574000 MCHL NCI2004_11_17:C3517 disease_ontology DOID:8656 Sezary's disease involving lymph nodes of multiple sites true A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human herpesvirus 3, which is transmitted_by direct contact with secretions from the rash, or transmitted_by droplet spread of respiratory secretions. The infection has_symptom anorexia, has_symptom myalgia, has_symptom nausea, has_symptom fever, has_symptom headache, has_symptom sore throat, and has_symptom blisters. DOID:8658 DOID:8693 DOID:9243 ICD10CM:B01 ICD10CM:B01.9 ICD9CM:052 MESH:D002644 NCI:C97132 SNOMEDCT_US_2016_03_01:154325003 SNOMEDCT_US_2016_03_01:186508005 SNOMEDCT_US_2016_03_01:38907003 UMLS_CUI:C0008049 varicella disease_ontology DOID:8659 chickenpox A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human herpesvirus 3, which is transmitted_by direct contact with secretions from the rash, or transmitted_by droplet spread of respiratory secretions. The infection has_symptom anorexia, has_symptom myalgia, has_symptom nausea, has_symptom fever, has_symptom headache, has_symptom sore throat, and has_symptom blisters. url:http://www.nlm.nih.gov/medlineplus/chickenpox.html varicella CSP2005:3099-9437 A vascular disease that is located_in a vein. ICD10CM:I82 ICD9CM:453 SNOMEDCT_US_2016_03_01:195435006 UMLS_CUI:C0155774 disease_ontology DOID:866 vein disease A vascular disease that is located_in a vein. url:http://en.wikipedia.org/wiki/Vein#Venous_diseases ICD10CM:C13.0 ICD9CM:148.0 NCI:C9323 SNOMEDCT_US_2016_03_01:363400004 SNOMEDCT_US_2016_03_01:93967000 UMLS_CUI:C0496769 malignant Postcricoid tumor malignant tumor of pharyngoesophageal junction disease_ontology DOID:8660 postcricoid region cancer malignant Postcricoid tumor NCI2004_11_17:C9323 malignant tumor of pharyngoesophageal junction SNOMEDCT_2005_07_31:363400004 ICD10CM:D00.0 ICD9CM:230.0 SNOMEDCT_US_2016_03_01:189210009 SNOMEDCT_US_2016_03_01:189213006 SNOMEDCT_US_2016_03_01:271325000 UMLS_CUI:C0154058 disease_ontology DOID:8661 lip carcinoma in situ A carcinoma in situ that is characterized by the spread of cancer in the digestive organ and the lack of invasion of surrounding tissues. DOID:9018 carcinoma in situ of digestive organ carcinoma in situ of digestive organ (disorder) carcinoma in situ of digestive organ NOS carcinoma in situ of digestive organ, unspecified (disorder) carcinoma in situ of digestive organs carcinoma in situ of digestive organs NOS (disorder) carcinoma in situ of other and unspecified digestive organs (disorder) disease_ontology DOID:8662 carcinoma in situ of digestive organ true A carcinoma in situ that is characterized by the spread of cancer in the digestive organ and the lack of invasion of surrounding tissues. url:http://en.wikipedia.org/wiki/Carcinoma_in_situ carcinoma in situ of digestive organ MTH:U000743 carcinoma in situ of digestive organ (disorder) SNOMEDCT_2005_07_31:109850001 carcinoma in situ of digestive organ NOS MTHICD9_2006:230.9 carcinoma in situ of digestive organ, unspecified (disorder) SNOMEDCT_2005_07_31:190174009 carcinoma in situ of digestive organs NOS (disorder) SNOMEDCT_2005_07_31:189250007 carcinoma in situ of other and unspecified digestive organs (disorder) SNOMEDCT_2005_07_31:189248004 ICD10CM:C13.1 ICD9CM:148.2 SNOMEDCT_US_2016_03_01:187708004 SNOMEDCT_US_2016_03_01:93829002 UMLS_CUI:C0153401 malignant neoplasm of hypopharyngeal aspect of aryepiglottic fold malignant tumor aryepiglottic fold - hypopharyngeal aspect (disorder) disease_ontology DOID:8663 aryepiglottic fold cancer malignant neoplasm of hypopharyngeal aspect of aryepiglottic fold SNOMEDCT_2005_07_31:93829002 malignant tumor aryepiglottic fold - hypopharyngeal aspect (disorder) SNOMEDCT_2005_07_31:187708004 nodular lymphoma of intrapelvic lymph nodes nodular lymphoma of intrapelvic lymph nodes (disorder) disease_ontology DOID:8664 nodular lymphoma involving intrapelvic lymph nodes true nodular lymphoma of intrapelvic lymph nodes SNOMEDCT_2005_07_31:188614001 nodular lymphoma of intrapelvic lymph nodes (disorder) SNOMEDCT_2005_07_31:95187002 Hodgkin's sarcoma of intra-abdominal lymph nodes Hodgkin's sarcoma of intra-abdominal lymph nodes (disorder) disease_ontology DOID:8667 Hodgkin's sarcoma involving intra-abdominal lymph nodes true Hodgkin's sarcoma of intra-abdominal lymph nodes SNOMEDCT_2005_07_31:188546005 Hodgkin's sarcoma of intra-abdominal lymph nodes (disorder) SNOMEDCT_2005_07_31:93547002 A cholesteatoma located_in paranasal sinus. NCI:C35868 UMLS_CUI:C1334644 disease_ontology DOID:867 maxillary sinus cholesteatoma A cholesteatoma located_in paranasal sinus. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=1503726 A specific developmental disorder that is characterized by abnormal eating habits that may involve either insufficient or excessive food intake to the detriment of an individual's physical and emotional health. ICD10CM:F50 ICD10CM:F50.9 ICD9CM:307.50 NCI:C89332 SNOMEDCT_US_2016_03_01:192444003 SNOMEDCT_US_2016_03_01:192452000 SNOMEDCT_US_2016_03_01:72366004 UMLS_CUI:C0013473 disease_ontology DOID:8670 eating disorder A specific developmental disorder that is characterized by abnormal eating habits that may involve either insufficient or excessive food intake to the detriment of an individual's physical and emotional health. url:http://en.wikipedia.org/wiki/Eating_disorder DOID:8730 DOID:8744 DOID:9213 ICD9CM:057.8 SNOMEDCT_US_2016_03_01:186577001 SNOMEDCT_US_2016_03_01:186583003 SNOMEDCT_US_2016_03_01:186585005 UMLS_CUI:C0029841 disease_ontology DOID:8672 viral exanthem disease_ontology DOID:8674 lymphosarcoma involving intrapelvic lymph nodes true DOID:8967 ICD10CM:C85.9 ICD9CM:200.0 ICD9CM:200.1 ICD9CM:200.7 MESH:D008228 NCI:C26919 NCI:C27824 NCI:C3210 NCI:C3211 NCI:C3458 NCI:C3459 NCI:C3462 NCI:C3463 SNOMEDCT_US_2016_03_01:109964000 SNOMEDCT_US_2016_03_01:118601006 SNOMEDCT_US_2016_03_01:118604003 SNOMEDCT_US_2016_03_01:128929007 SNOMEDCT_US_2016_03_01:134176000 SNOMEDCT_US_2016_03_01:154579006 SNOMEDCT_US_2016_03_01:154580009 SNOMEDCT_US_2016_03_01:154583006 SNOMEDCT_US_2016_03_01:188488003 SNOMEDCT_US_2016_03_01:188497004 SNOMEDCT_US_2016_03_01:188498009 SNOMEDCT_US_2016_03_01:188508003 SNOMEDCT_US_2016_03_01:188675007 SNOMEDCT_US_2016_03_01:188676008 SNOMEDCT_US_2016_03_01:189964003 SNOMEDCT_US_2016_03_01:189965002 SNOMEDCT_US_2016_03_01:189982000 SNOMEDCT_US_2016_03_01:189983005 SNOMEDCT_US_2016_03_01:189986002 SNOMEDCT_US_2016_03_01:190012002 SNOMEDCT_US_2016_03_01:190168009 SNOMEDCT_US_2016_03_01:1929004 SNOMEDCT_US_2016_03_01:269628007 SNOMEDCT_US_2016_03_01:271385002 SNOMEDCT_US_2016_03_01:373168002 SNOMEDCT_US_2016_03_01:40152000 SNOMEDCT_US_2016_03_01:63086004 SNOMEDCT_US_2016_03_01:67824002 UMLS_CUI:C0024302 UMLS_CUI:C0024304 UMLS_CUI:C0024305 UMLS_CUI:C0024306 UMLS_CUI:C0079740 UMLS_CUI:C0079741 UMLS_CUI:C0079747 UMLS_CUI:C0079757 UMLS_CUI:C0079770 UMLS_CUI:C3714542 Diffuse lymphoma malignant lymphoma (category) disease_ontology DOID:8675 lymphosarcoma Diffuse lymphoma MTHICD9_2006:202.8 malignant lymphoma (category) SNOMEDCT_2005_07_31:115244002 malignant histiocytosis of lymph nodes of multiple sites (disorder) disease_ontology DOID:8676 malignant histiocytosis involving lymph nodes of multiple sites true malignant histiocytosis of lymph nodes of multiple sites (disorder) SNOMEDCT_2005_07_31:93188005 MESH:D020345 NCI:C84915 SNOMEDCT_US_2016_03_01:2707005 SNOMEDCT_US_2016_03_01:397729009 SNOMEDCT_US_2016_03_01:51180003 UMLS_CUI:C0520459 ENTEROCOLITIS NECROTIZING Necrotizing enterocolitis in fetus OR newborn (disorder) Perinatal necrotising enterocolitis Perinatal necrotizing enterocolitis (disorder) Pseudomembranous enterocolitis in newborn necrotizing enterocolitis disease_ontology DOID:8677 perinatal necrotizing enterocolitis ENTEROCOLITIS NECROTIZING MTH:NOCODE Necrotizing enterocolitis in fetus OR newborn (disorder) SNOMEDCT_2005_07_31:2707005 Perinatal necrotising enterocolitis SNOMEDCT_2005_07_31:51180003 Perinatal necrotizing enterocolitis (disorder) SNOMEDCT_2005_07_31:397729009 Pseudomembranous enterocolitis in newborn MTHICD9_2006:777.5 necrotizing enterocolitis CSP2005:5005-0017 DOID:8957 DOID:9154 ICD10CM:K29.2 ICD9CM:535.3 NCI:C26977 SNOMEDCT_US_2016_03_01:155714000 SNOMEDCT_US_2016_03_01:2043009 UMLS_CUI:C0156076 Alcoholic Gastritis Alcoholic gastritis (disorder) Alcoholic gastritis, with hemorrhage Alcoholic gastritis, without mention of hemorrhage disease_ontology DOID:8680 alcoholic gastritis Alcoholic Gastritis NCI2004_11_17:C26977 Alcoholic gastritis (disorder) SNOMEDCT_2005_07_31:2043009 ICD9CM:357.3 MESH:D020364 NCI:C3981 SNOMEDCT_US_2016_03_01:21361000119109 SNOMEDCT_US_2016_03_01:77659000 UMLS_CUI:C0270932 disease_ontology DOID:8681 paraneoplastic polyneuropathy DOID:8682 DOID:8848 ICD10CM:C92.3 ICD10CM:C92.30 ICD9CM:205.3 MESH:D023981 NCI:C3520 NCI:C35815 SNOMEDCT_US_2016_03_01:188737002 SNOMEDCT_US_2016_03_01:188738007 SNOMEDCT_US_2016_03_01:188739004 SNOMEDCT_US_2016_03_01:35287006 SNOMEDCT_US_2016_03_01:94719007 UMLS_CUI:C0152276 Chloroma Extramedullary Myeloid tumor Granulocytic sarcoma disease_ontology DOID:8683 myeloid sarcoma Chloroma MTHICD9_2006:205.3 Extramedullary Myeloid tumor NCI2004_11_17:C3520 Granulocytic sarcoma NCI2004_11_17:C35815 A carcinoma in situ that is characterized by the spread of cancer in skin and the lack of invasion of surrounding tissues. DOID:8686 DOID:8699 DOID:8817 DOID:8831 DOID:8880 DOID:8989 DOID:9000 DOID:9185 DOID:9221 ICD10CM:D04 ICD10CM:D04.0 ICD10CM:D04.2 ICD10CM:D04.3 ICD10CM:D04.4 ICD10CM:D04.6 ICD10CM:D04.7 ICD10CM:D04.9 ICD9CM:232 ICD9CM:232.0 ICD9CM:232.2 ICD9CM:232.3 ICD9CM:232.4 ICD9CM:232.5 ICD9CM:232.6 ICD9CM:232.7 ICD9CM:232.9 NCI:C3640 SNOMEDCT_US_2016_03_01:189276007 SNOMEDCT_US_2016_03_01:189278008 SNOMEDCT_US_2016_03_01:189282005 SNOMEDCT_US_2016_03_01:189290005 SNOMEDCT_US_2016_03_01:189291009 SNOMEDCT_US_2016_03_01:189294001 SNOMEDCT_US_2016_03_01:189295000 SNOMEDCT_US_2016_03_01:189334002 SNOMEDCT_US_2016_03_01:190179004 SNOMEDCT_US_2016_03_01:190181002 SNOMEDCT_US_2016_03_01:255144005 SNOMEDCT_US_2016_03_01:92734000 SNOMEDCT_US_2016_03_01:92735004 SNOMEDCT_US_2016_03_01:92747005 SNOMEDCT_US_2016_03_01:92749008 UMLS_CUI:C0154073 UMLS_CUI:C0154074 UMLS_CUI:C0154077 UMLS_CUI:C0154078 UMLS_CUI:C0154079 UMLS_CUI:C0154080 UMLS_CUI:C0154081 UMLS_CUI:C0347139 Cutaneous carcinoma in situ disease_ontology carcinoma in situ of skin DOID:8687 skin carcinoma in situ A carcinoma in situ that is characterized by the spread of cancer in skin and the lack of invasion of surrounding tissues. url:http://en.wikipedia.org/wiki/Carcinoma_in_situ Cutaneous carcinoma in situ NCI2004_11_17:C3640 carcinoma in situ of skin ICD9CM_2006:232 ICD10CM:C09.1 ICD9CM:146.2 SNOMEDCT_US_2016_03_01:187675005 SNOMEDCT_US_2016_03_01:187676006 SNOMEDCT_US_2016_03_01:187679004 SNOMEDCT_US_2016_03_01:94103007 UMLS_CUI:C0153385 malignant neoplasm of tonsillar pillar malignant neoplasm of tonsillar pillars, posterior malignant tumor of tonsillar pillar (disorder) malignant tumour of tonsillar pillar disease_ontology DOID:8688 tonsillar pillar cancer malignant neoplasm of tonsillar pillar SNOMEDCT_2005_07_31:94103007 malignant neoplasm of tonsillar pillars, posterior MTHICD9_2006:146.2 malignant tumor of tonsillar pillar (disorder) SNOMEDCT_2005_07_31:187675005 malignant tumour of tonsillar pillar SNOMEDCT_2005_07_31:187676006 malignant tumour of tonsillar pillar SNOMEDCT_2005_07_31:187679004 An eating disorder characterized by refusal to maintain a healthy body weight, and an obsessive fear of gaining weight due to a distorted self image. ICD10CM:F50.0 ICD10CM:F50.00 ICD9CM:307.1 MESH:D000856 NCI:C34387 SNOMEDCT_US_2016_03_01:154926005 SNOMEDCT_US_2016_03_01:192445002 SNOMEDCT_US_2016_03_01:56882008 UMLS_CUI:C0003125 disease_ontology DOID:8689 anorexia nervosa An eating disorder characterized by refusal to maintain a healthy body weight, and an obsessive fear of gaining weight due to a distorted self image. url:http://en.wikipedia.org/wiki/Anorexia_nervosa A keratosis characterized_by keratinizing squamous epithelium located_in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction. ICD10CM:H71.9 ICD10CM:H71.90 ICD9CM:385.30 MESH:D002781 NCI:C2944 SNOMEDCT_US_2016_03_01:155244001 SNOMEDCT_US_2016_03_01:194338004 SNOMEDCT_US_2016_03_01:267766007 SNOMEDCT_US_2016_03_01:363668000 SNOMEDCT_US_2016_03_01:575006 UMLS_CUI:C0008373 disease_ontology DOID:869 cholesteatoma A keratosis characterized_by keratinizing squamous epithelium located_in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=26223725 url:https://en.wikipedia.org/wiki/Cholesteatoma Mycosis fungoides involving lymph nodes of head, face and neck Mycosis fungoides of lymph nodes of head, face and/or neck (disorder) Mycosis fungoides of the lymph nodes of head, face and neck (disorder) disease_ontology DOID:8690 Mycosis fungoides involving lymph nodes of head, face, and neck true Mycosis fungoides involving lymph nodes of head, face and neck MTHICD9_2006:202.11 Mycosis fungoides of lymph nodes of head, face and/or neck (disorder) SNOMEDCT_2005_07_31:94711005 Mycosis fungoides of the lymph nodes of head, face and neck (disorder) SNOMEDCT_2005_07_31:188619006 DOID:8737 ICD10CM:C84.0 ICD10CM:C84.00 ICD9CM:202.1 MESH:D009182 NCI:C3246 OMIM:254400 SNOMEDCT_US_2016_03_01:118618005 SNOMEDCT_US_2016_03_01:188618003 SNOMEDCT_US_2016_03_01:188628007 SNOMEDCT_US_2016_03_01:190003004 SNOMEDCT_US_2016_03_01:190004005 SNOMEDCT_US_2016_03_01:90120004 UMLS_CUI:C0026948 MF Mycosis Fungoides Mycosis fungoides Mycosis fungoides (disorder) Mycosis fungoides (morphologic abnormality) Mycosis fungoides NOS (disorder) Mycosis fungoides NOS (morphologic abnormality) Mycosis fungoides of unspecified site (disorder) Mycosis fungoides, unspecified site, extranodal and solid organ sites mycosis fungoides lymphoma disease_ontology DOID:8691 OMIM mapping confirmed by DO. [SN]. mycosis fungoides MF NCI2004_11_17:C3246 Mycosis Fungoides MTH:U002093 Mycosis fungoides SNOMEDCT_2005_07_31:190003004 Mycosis fungoides (disorder) SNOMEDCT_2005_07_31:118618005 Mycosis fungoides (morphologic abnormality) SNOMEDCT_2005_07_31:90120004 Mycosis fungoides NOS (disorder) SNOMEDCT_2005_07_31:188628007 Mycosis fungoides NOS (morphologic abnormality) SNOMEDCT_2005_07_31:190004005 Mycosis fungoides of unspecified site (disorder) SNOMEDCT_2005_07_31:188618003 mycosis fungoides lymphoma CSP2005:2004-7126 A leukemia that is located_in myeloid tissue. DOID:8878 DOID:8879 DOID:8910 DOID:9066 DOID:9126 ICD10CM:C92 ICD10CM:C92.9 ICD10CM:C92.90 ICD9CM:205 ICD9CM:205.9 MESH:D007951 NCI:C3172 SNOMEDCT_US_2016_03_01:128934006 SNOMEDCT_US_2016_03_01:154587007 SNOMEDCT_US_2016_03_01:188732008 SNOMEDCT_US_2016_03_01:188743000 SNOMEDCT_US_2016_03_01:190047005 SNOMEDCT_US_2016_03_01:269631008 SNOMEDCT_US_2016_03_01:324170002 SNOMEDCT_US_2016_03_01:37810007 SNOMEDCT_US_2016_03_01:94717009 UMLS_CUI:C0023470 Non-Lymphocytic Leukemia leukemia myelogenous myeloid granulocytic leukemia disease_ontology DOID:8692 myeloid leukemia A leukemia that is located_in myeloid tissue. url:http://en.wikipedia.org/wiki/Myeloid_leukemia Non-Lymphocytic Leukemia NCI2004_11_17:C3172 leukemia myelogenous MTH:NOCODE myeloid granulocytic leukemia CSP2005:2004-4431 DOID:8898 ICD9CM:206.2 SNOMEDCT_US_2016_03_01:12834001 SNOMEDCT_US_2016_03_01:154596007 SNOMEDCT_US_2016_03_01:188746008 SNOMEDCT_US_2016_03_01:190059009 SNOMEDCT_US_2016_03_01:95276000 UMLS_CUI:C0152275 disease_ontology DOID:8696 subacute monocytic leukemia A nervous system disease that is located_in nerves or nerve cells. ICD10CM:G62.9 NCI:C4731 SNOMEDCT_US_2016_03_01:193167000 SNOMEDCT_US_2016_03_01:264554005 SNOMEDCT_US_2016_03_01:277317008 SNOMEDCT_US_2016_03_01:277878001 SNOMEDCT_US_2016_03_01:386033004 SNOMEDCT_US_2016_03_01:42658009 UMLS_CUI:C0442874 peripheral neuropathy disease_ontology DOID:870 neuropathy A nervous system disease that is located_in nerves or nerve cells. url:http://en.wikipedia.org/wiki/Neuropathy_%28disambiguation%29 Hodgkin's disease, lymphocytic-histiocytic predominance involving lymph nodes of head, face and neck Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of head, face and neck (disorder) Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of head, face and/or neck (disorder) disease_ontology Hodgkin's disease, lymphocytic-histiocytic predominance involving lymph nodes of head, face, and neck DOID:8701 Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving lymph nodes of head, face, and neck true Hodgkin's disease, lymphocytic-histiocytic predominance involving lymph nodes of head, face and neck MTHICD9_2006:201.41 Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of head, face and neck (disorder) SNOMEDCT_2005_07_31:188554007 Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of head, face and/or neck (disorder) SNOMEDCT_2005_07_31:93497000 ICD10CM:C06.0 ICD9CM:145.0 NCI:C9320 SNOMEDCT_US_2016_03_01:363386008 SNOMEDCT_US_2016_03_01:93735006 UMLS_CUI:C0153373 malignant neoplasm of buccal mucosa malignant neoplasm of cheek, inner aspect malignant neoplasm of the Buccal Mucosa malignant tumor of buccal mucosa (disorder) disease_ontology DOID:8702 cheek mucosa cancer malignant neoplasm of buccal mucosa SNOMEDCT_2005_07_31:93735006 malignant neoplasm of cheek, inner aspect MTHICD9_2006:145.0 malignant neoplasm of the Buccal Mucosa NCI2004_11_17:C9320 malignant tumor of buccal mucosa (disorder) SNOMEDCT_2005_07_31:363386008 A genital herpes that results_in infection located_in skin of penis, has_material_basis_in Human herpesvirus 1 and Human herpesvirus 2 and has_symptom lesions, and has_symptom swollen glands in the groin area. Herpetic infection of penis (disorder) disease_ontology DOID:8703 penis herpetic infectious disease true A genital herpes that results_in infection located_in skin of penis, has_material_basis_in Human herpesvirus 1 and Human herpesvirus 2 and has_symptom lesions, and has_symptom swollen glands in the groin area. url:http://kidshealth.org/parent/infections/std/herpes.htm Herpetic infection of penis (disorder) SNOMEDCT_2005_07_31:10227000 A herpes simplex that results_in infection located_in genital system, or located_in rectum, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which is transmitted_by sexual contact. The infection has_symptom sores, has_symptom fever, and has_symptom swollen glands. DOID:8982 ICD9CM:054.1 ICD9CM:054.10 MESH:D006558 NCI:C14364 SNOMEDCT_US_2016_03_01:154333002 SNOMEDCT_US_2016_03_01:186536000 SNOMEDCT_US_2016_03_01:186539007 SNOMEDCT_US_2016_03_01:271463009 SNOMEDCT_US_2016_03_01:33839006 UMLS_CUI:C0019342 Genital herpes simplex (disorder) HERPES GENITALIA Herpes Genitalis Virus-Genital Herpes venereal herpes disease_ontology DOID:8704 genital herpes A herpes simplex that results_in infection located_in genital system, or located_in rectum, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which is transmitted_by sexual contact. The infection has_symptom sores, has_symptom fever, and has_symptom swollen glands. url:http://www.cdc.gov/std/herpes/stdfact-herpes.htm Genital herpes simplex (disorder) SNOMEDCT_2005_07_31:33839006 HERPES GENITALIA MTH:363 Herpes Genitalis MTH:328 Virus-Genital Herpes NCI2004_11_17:C14364 venereal herpes CSP2005:3099-9627 DOID:14750 DOID:8711 DOID:9137 ICD10CM:Q85.00 ICD10CM:Q85.01 ICD10CM:Q85.02 ICD9CM:237.7 ICD9CM:237.70 ICD9CM:237.71 ICD9CM:237.72 MESH:C537392 MESH:D009456 MESH:D016518 MESH:D017253 NCI:C3273 NCI:C3274 NCI:C6727 OMIM:101000 OMIM:162200 OMIM:162210 OMIM:162260 OMIM:162270 ORDO:636 ORDO:637 ORDO:93921 SNOMEDCT_US_2016_03_01:154642000 SNOMEDCT_US_2016_03_01:19133005 SNOMEDCT_US_2016_03_01:700060008 SNOMEDCT_US_2016_03_01:700061007 SNOMEDCT_US_2016_03_01:81669005 SNOMEDCT_US_2016_03_01:92503002 SNOMEDCT_US_2016_03_01:92824003 UMLS_CUI:C0027831 UMLS_CUI:C0027832 UMLS_CUI:C0162678 UMLS_CUI:C0220695 Acoustic neurofibromatosis Neurofibromatosis 1 Recklinghausen's neurofibromatosis central Neurofibromatosis neurofibromatosis type 1 neurofibromatosis type 2 neurofibromatosis type 4 neurofibromatosis type IV peripheral Neurofibromatosis type IV neurofibromatosis of riccardi von Reklinghausen disease disease_ontology DOID:8712 Xref MGI. OMIM mapping confirmed by DO. [SN]. neurofibromatosis Acoustic neurofibromatosis MTHICD9_2006:237.72 Neurofibromatosis 1 MTH:U003314 Recklinghausen's neurofibromatosis CSP2005:2012-7338 central Neurofibromatosis NCI2004_11_17:C3274 peripheral Neurofibromatosis NCI2004_11_17:C3273 DOID:8727 DOID:8728 DOID:8764 DOID:8789 DOID:8829 DOID:8890 DOID:8933 DOID:9044 DOID:9172 DOID:9209 Lymphosarcoma and reticulosarcoma (disorder) Other named variants of lymphosarcoma and reticulosarcoma Other named variants of lymphosarcoma and reticulosarcoma involving intra-abdominal lymph nodes Other named variants of lymphosarcoma and reticulosarcoma involving intrapelvic lymph nodes Other named variants of lymphosarcoma and reticulosarcoma involving intrathoracic lymph nodes Other named variants of lymphosarcoma and reticulosarcoma involving lymph nodes of axilla and upper limb Other named variants of lymphosarcoma and reticulosarcoma involving lymph nodes of head, face and neck Other named variants of lymphosarcoma and reticulosarcoma involving lymph nodes of head, face, and neck Other named variants of lymphosarcoma and reticulosarcoma involving lymph nodes of inguinal region and lower limb Other named variants of lymphosarcoma and reticulosarcoma involving lymph nodes of multiple sites Other named variants of lymphosarcoma and reticulosarcoma involving spleen Other named variants of lymphosarcoma and reticulosarcoma, unspecified site disease_ontology DOID:8716 lymphosarcoma and reticulosarcoma true Lymphosarcoma and reticulosarcoma (disorder) SNOMEDCT_2005_07_31:188487008 Other named variants of lymphosarcoma and reticulosarcoma involving lymph nodes of head, face and neck MTHICD9_2006:200.81 Decubitus ulcer is a chronic ulcer of skin where the ulcer is an ulceration of tissue deprived of adequate blood supply by prolonged pressure. DOID:8808 DOID:9002 DOID:9029 DOID:9129 ICD10CM:L89 ICD10CM:L89.9 ICD9CM:707.0 ICD9CM:707.00 MESH:D003668 NCI:C50706 SNOMEDCT_US_2016_03_01:142668003 SNOMEDCT_US_2016_03_01:156424003 SNOMEDCT_US_2016_03_01:165258002 SNOMEDCT_US_2016_03_01:201248003 SNOMEDCT_US_2016_03_01:28103007 SNOMEDCT_US_2016_03_01:399912005 SNOMEDCT_US_2016_03_01:400192002 SNOMEDCT_US_2016_03_01:418172001 SNOMEDCT_US_2016_03_01:420226006 SNOMEDCT_US_2016_03_01:90144002 UMLS_CUI:C0011127 Decubitus (pressure) ulcer Decubitus ulcer Decubitus ulcer any site Decubitus ulcer, elbow Decubitus ulcer, lower back Decubitus ulcer, other site Decubitus ulcer, upper back pressure sores pressure ulcer disease_ontology bedsore DOID:8717 decubitus ulcer Decubitus ulcer is a chronic ulcer of skin where the ulcer is an ulceration of tissue deprived of adequate blood supply by prolonged pressure. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bedsore Decubitus (pressure) ulcer SNOMEDCT_2005_07_31:201248003 Decubitus ulcer SNOMEDCT_2005_07_31:165258002 Decubitus ulcer any site MTHICD9_2006:707.0 pressure sores MTH:U000022 pressure ulcer CSP2005:2718-0434 A carcinoma in situ that is characterized by the spread of cancer in the respiratory system and the lack of invasion of surrounding tissues. DOID:8965 carcinoma in situ of respiratory tract (disorder) disease_ontology DOID:8718 carcinoma in situ of respiratory system true A carcinoma in situ that is characterized by the spread of cancer in the respiratory system and the lack of invasion of surrounding tissues. url:http://en.wikipedia.org/wiki/Carcinoma_in_situ carcinoma in situ of respiratory tract (disorder) SNOMEDCT_2005_07_31:92698005 A carcinoma that is an early development defined by the absence of invasion of surrounding tissues. DOID:8793 DOID:8821 ICD10CM:D09.9 ICD9CM:230-234.99 ICD9CM:234.9 MESH:D002278 NCI:C2917 SNOMEDCT_US_2016_03_01:109355002 SNOMEDCT_US_2016_03_01:154635000 SNOMEDCT_US_2016_03_01:154640008 SNOMEDCT_US_2016_03_01:189208007 SNOMEDCT_US_2016_03_01:189359006 SNOMEDCT_US_2016_03_01:189548003 SNOMEDCT_US_2016_03_01:271528002 SNOMEDCT_US_2016_03_01:399919001 SNOMEDCT_US_2016_03_01:68956006 UMLS_CUI:C0007099 disease_ontology DOID:8719 in situ carcinoma A carcinoma that is an early development defined by the absence of invasion of surrounding tissues. url:http://en.wikipedia.org/wiki/Carcinoma_in_situ DOID:14 DOID:44 Connective and soft tissue disease Connective and soft tissue disorder disease of deep fascial system tissue disease disease_ontology DOID:872 soft tissue disease true Connective and soft tissue disease NCI2004_11_17:C27574 Connective and soft tissue disorder MTH:NOCODE A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain. DOID:13915 ICD10CM:F01 ICD10CM:F01.5 ICD9CM:290.4 MESH:D015140 MESH:D015161 NCI:C34522 NCI:C34525 SNOMEDCT_US_2016_03_01:154850006 SNOMEDCT_US_2016_03_01:191462009 SNOMEDCT_US_2016_03_01:192165000 SNOMEDCT_US_2016_03_01:192167008 SNOMEDCT_US_2016_03_01:192171006 SNOMEDCT_US_2016_03_01:268613002 SNOMEDCT_US_2016_03_01:429998004 SNOMEDCT_US_2016_03_01:56267009 UMLS_CUI:C0011263 UMLS_CUI:C0011269 Multi Infarct Dementia multifocal dementia disease_ontology DOID:8725 vascular dementia A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain. url:http://www.mayoclinic.com/health/vascular-dementia/DS00934 url:http://www.nlm.nih.gov/medlineplus/ency/article/000739.htm Multi Infarct Dementia MTH:NOCODE NCI2004_11_17:C34522 multifocal dementia CSP2005:0485-6862 A viral infectious disease that results_in infection of cattle and humans, located_in skin, has_material_basis_in Pseudocowpox virus, which is transmitted_by contact with the infected cow teats, or transmitted_by fomites. The infection results_in_formation_of lesions on the fingers, hands, and forearms and has_symptom fever, has_symptom lymphangitis, and has_symptom lymphadenopathy. ICD10CM:B08.04 ICD9CM:051.1 ICD9CM:051.9 MESH:D011213 SNOMEDCT_US_2016_03_01:154344005 SNOMEDCT_US_2016_03_01:186507000 SNOMEDCT_US_2016_03_01:266193008 SNOMEDCT_US_2016_03_01:27240009 UMLS_CUI:C0026143 Milkers' node Paravaccinia milker nodule disease_ontology Pseudocowpox DOID:8729 milker's nodule A viral infectious disease that results_in infection of cattle and humans, located_in skin, has_material_basis_in Pseudocowpox virus, which is transmitted_by contact with the infected cow teats, or transmitted_by fomites. The infection results_in_formation_of lesions on the fingers, hands, and forearms and has_symptom fever, has_symptom lymphangitis, and has_symptom lymphadenopathy. url:http://emedicine.medscape.com/article/1132823-overview url:http://www.cfsph.iastate.edu/FastFacts/pdfs/pseudocowpox_F.pdf Milkers' node MTHICD9_2006:051.1 Paravaccinia SNOMEDCT_2005_07_31:186507000 Pseudocowpox ICD9CM_2006:051.1 An aspiration pneumonia caused by anaerobic bacteria like Bacteroides fragilis, Peptostreptococcus, anaerobic streptococci, Fusobacterium species (Fusobacterium nucleatum and Fusobacterium necrophoram). Lung abscess and empyema are diagnosed in this disease. ICD9CM:482.81 UMLS_CUI:C0375327 pneumonia due to anaerobes disease_ontology DOID:873 anaerobic pneumonia An aspiration pneumonia caused by anaerobic bacteria like Bacteroides fragilis, Peptostreptococcus, anaerobic streptococci, Fusobacterium species (Fusobacterium nucleatum and Fusobacterium necrophoram). Lung abscess and empyema are diagnosed in this disease. url:http://books.google.com/books?id=fYgVmmMKS50C&pg=RA1-PA412&lpg A vascular cancer that is characterized by an encapsulated, firm round mass at the bifurcation of the common carotid artery. ICD10CM:C75.4 ICD9CM:194.5 NCI:C3574 SNOMEDCT_US_2016_03_01:16822006 SNOMEDCT_US_2016_03_01:188342008 SNOMEDCT_US_2016_03_01:447883002 SNOMEDCT_US_2016_03_01:93740003 UMLS_CUI:C0153656 malignant Carotid body Paraganglioma malignant carotid body tumor (morphologic abnormality) disease_ontology cancer of carotid body DOID:8731 carotid body cancer A vascular cancer that is characterized by an encapsulated, firm round mass at the bifurcation of the common carotid artery. url:http://www.wrongdiagnosis.com/medical/carotid_body_tumor.htm malignant Carotid body Paraganglioma NCI2004_11_17:C3574 malignant carotid body tumor (morphologic abnormality) SNOMEDCT_2005_07_31:16822006 A viral infectious disease that results_in infection located_in skin, has_material_basis_in Variola virus, which is transmitted_by droplets from oral, nasal or pharyngeal mucosa, transmitted_by contact with the body fluids, or transmitted_by fomites. The infection results_in_formation_of lesions, first on the face, hands and forearms and later on the trunk. ICD10CM:B03 ICD9CM:050 ICD9CM:050.9 MESH:D012899 NCI:C35027 SNOMEDCT_US_2016_03_01:154344005 SNOMEDCT_US_2016_03_01:186505008 SNOMEDCT_US_2016_03_01:266193008 SNOMEDCT_US_2016_03_01:47452006 SNOMEDCT_US_2016_03_01:67924001 UMLS_CUI:C0037354 Ordinary smallpox disease_ontology DOID:8736 smallpox A viral infectious disease that results_in infection located_in skin, has_material_basis_in Variola virus, which is transmitted_by droplets from oral, nasal or pharyngeal mucosa, transmitted_by contact with the body fluids, or transmitted_by fomites. The infection results_in_formation_of lesions, first on the face, hands and forearms and later on the trunk. url:http://www.who.int/mediacentre/factsheets/smallpox/en/ Ordinary smallpox SNOMEDCT_2005_07_31:47452006 ICD10CM:N48.0 ICD9CM:607.0 MESH:D052798 NCI:C3151 SNOMEDCT_US_2016_03_01:155932009 SNOMEDCT_US_2016_03_01:198019005 SNOMEDCT_US_2016_03_01:266639006 SNOMEDCT_US_2016_03_01:3323003 UMLS_CUI:C0022782 Kraurosis of penis Penile Leukoplakia disease_ontology DOID:8738 leukoplakia of penis Kraurosis of penis MTHICD9_2006:607.0 Penile Leukoplakia NCI2004_11_17:C3151 A pneumonia involving inflammation of the lungs caused by bacteria. DOID:13815 ICD10CM:J15.9 ICD9CM:482.9 MESH:D018410 NCI:C26704 SNOMEDCT_US_2016_03_01:155553007 SNOMEDCT_US_2016_03_01:195891009 SNOMEDCT_US_2016_03_01:195892002 SNOMEDCT_US_2016_03_01:53084003 UMLS_CUI:C0004626 Pneumonia due to other gram-negative bacteria gram-negative pneumonia disease_ontology DOID:874 bacterial pneumonia A pneumonia involving inflammation of the lungs caused by bacteria. url:http://en.wikipedia.org/wiki/Bacterial_pneumonia Pneumonia due to other gram-negative bacteria ICD9CM_2006:482.83 A dermatitis that is an inflammatory skin condition resulting in flaky, white to yellowish scales on oily areas such as the scalp or inside the ear, which is caused due to a combination of an over production of skin oil and irritation from a yeast Malassezia furfur. The symptoms include itching, skin lesions and scales, redness, plaques and hair loss. DOID:8740 ICD10CM:L21 ICD10CM:L21.9 ICD9CM:690.1 ICD9CM:690.10 ICD9CM:706.3 MESH:D012628 NCI:C111888 SNOMEDCT_US_2016_03_01:156328004 SNOMEDCT_US_2016_03_01:156421006 SNOMEDCT_US_2016_03_01:200764003 SNOMEDCT_US_2016_03_01:201241009 SNOMEDCT_US_2016_03_01:50563003 SNOMEDCT_US_2016_03_01:86708008 UMLS_CUI:C0036508 SKIN SEBORRHEIC Seborrhoeic dermatitis Seborrhoeic eczema seborrhea disease_ontology DOID:8741 seborrheic dermatitis A dermatitis that is an inflammatory skin condition resulting in flaky, white to yellowish scales on oily areas such as the scalp or inside the ear, which is caused due to a combination of an over production of skin oil and irritation from a yeast Malassezia furfur. The symptoms include itching, skin lesions and scales, redness, plaques and hair loss. url:http://www.nlm.nih.gov/medlineplus/ency/article/000963.htm SKIN SEBORRHEIC MTH:NOCODE Seborrhoeic dermatitis SNOMEDCT_2005_07_31:156328004 Seborrhoeic eczema SNOMEDCT_2005_07_31:200764003 seborrhea CSP2005:4008-0032 Hodgkin's granuloma involving lymph nodes of head, face and neck Hodgkin's granuloma of lymph nodes of head, face and neck (disorder) Hodgkin's granuloma of lymph nodes of head, face and/or neck (disorder) disease_ontology DOID:8742 Hodgkin's granuloma involving lymph nodes of head, face, and neck true Hodgkin's granuloma involving lymph nodes of head, face and neck MTHICD9_2006:201.11 Hodgkin's granuloma of lymph nodes of head, face and neck (disorder) SNOMEDCT_2005_07_31:188534006 Hodgkin's granuloma of lymph nodes of head, face and/or neck (disorder) SNOMEDCT_2005_07_31:93533001 ICD10CM:B08.3 ICD9CM:057.0 MESH:D016731 NCI:C84695 SNOMEDCT_US_2016_03_01:154344005 SNOMEDCT_US_2016_03_01:266193008 SNOMEDCT_US_2016_03_01:34730008 UMLS_CUI:C0085273 Erythema infectiosum (disorder) Fifth disease disease_ontology DOID:8743 erythema infectiosum Erythema infectiosum (disorder) SNOMEDCT_2005_07_31:34730008 Fifth disease MTHICD9_2006:057.0 Fifth disease SNOMEDCT_2005_07_31:154344005 Fifth disease SNOMEDCT_2005_07_31:266193008 chronic universal ulcerative colitis universal ulcerative (chronic) colitis disease_ontology DOID:8745 universal ulcerative colitis true chronic universal ulcerative colitis MTHICD9_2006:556.6 DOID:8746 DOID:8993 SNOMEDCT_US_2016_03_01:95278004 UMLS_CUI:C0153889 Atypical CML Atypical chronic myeloid leukemia (disorder) disease_ontology DOID:8747 subacute myeloid leukemia Atypical CML NCI2004_11_17:C3519 Atypical chronic myeloid leukemia (disorder) SNOMEDCT_2005_07_31:277589003 disease_ontology DOID:8748 acute dermatitis due to solar radiation true disease_ontology DOID:8749 actinic reticuloid and actinic granuloma true disease_ontology DOID:8751 Hodgkin's granuloma involving intrathoracic lymph nodes true A pulmonary tuberculosis in which dissemination of the infection by Mycobacterium tuberculosis has occured to parts of the same lung or the opposite lung through rupture of a caseous lymph node into a bronchus. DOID:14009 tuberculous bronchopneumonia disease_ontology DOID:8752 tuberculous pneumonia true A pulmonary tuberculosis in which dissemination of the infection by Mycobacterium tuberculosis has occured to parts of the same lung or the opposite lung through rupture of a caseous lymph node into a bronchus. url:http://chestjournal.chestpubs.org/content/71/6/774.full.pdf url:http://www.bmj.com/cgi/reprint/1/4608/741.pdf Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of inguinal region and lower limb (disorder) Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of inguinal region and/or lower limb (disorder) disease_ontology Hodgkin's disease, lymphocytic-histiocytic predominance involving lymph nodes of inguinal region and lower limb DOID:8754 Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving lymph nodes of inguinal region and lower limb true Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of inguinal region and lower limb (disorder) SNOMEDCT_2005_07_31:188559002 Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of inguinal region and/or lower limb (disorder) SNOMEDCT_2005_07_31:93498005 DOID:9134 DOID:9242 ICD10CM:K29.6 ICD9CM:535.2 MESH:D005758 NCI:C67277 OMIM:137280 SNOMEDCT_US_2016_03_01:235665008 SNOMEDCT_US_2016_03_01:413219009 SNOMEDCT_US_2016_03_01:60002000 UMLS_CUI:C0017155 Giant rugal hypertrophy of stomach MENETRIER DISEASE familial giant hypertrophic gastritis hypertrophic gastritis hypertrophic gastropathy (disorder) disease_ontology DOID:8757 OMIM mapping confirmed by DO. [SN]. gastric mucosal hypertrophy Giant rugal hypertrophy of stomach SNOMEDCT_2005_07_31:235665008 hypertrophic gastritis MTHICD9_2006:535.2 hypertrophic gastropathy (disorder) SNOMEDCT_2005_07_31:413219009 disease_ontology DOID:8758 lymphosarcoma involving lymph nodes of multiple sites true ICD10CM:M60.0 ICD9CM:040.81 MESH:D052880 SNOMEDCT_US_2016_03_01:186430009 SNOMEDCT_US_2016_03_01:65110003 UMLS_CUI:C0041188 Tropical pyomyositis disease_ontology DOID:876 pyomyositis Tropical pyomyositis ICD9CM_2006:040.81 A leukemia that derives_from blood-forming tissue in which megakaryocytes proliferate in the bone marrow and circulate in the blood in large numbers. DOID:9009 ICD10CM:C94.2 ICD10CM:C94.20 ICD9CM:207.2 MESH:D007947 NCI:C3170 SNOMEDCT_US_2016_03_01:188754005 SNOMEDCT_US_2016_03_01:190065009 SNOMEDCT_US_2016_03_01:190067001 SNOMEDCT_US_2016_03_01:277602003 SNOMEDCT_US_2016_03_01:52220008 SNOMEDCT_US_2016_03_01:94149003 UMLS_CUI:C0023462 Megakaryocytic myelosis Thrombocytic leukaemia acute Megakaryoblastic Leukemia (FAB type M7) acute Megakaryocytic Leukemias acute megakaryoblastic leukaemia, FAB M7 acute megakaryoblastic leukemia, FAB M7 (disorder) disease_ontology DOID:8761 megakaryocytic leukemia A leukemia that derives_from blood-forming tissue in which megakaryocytes proliferate in the bone marrow and circulate in the blood in large numbers. url:http://medical-dictionary.thefreedictionary.com/megakaryocytic+leukemia Megakaryocytic myelosis MTHICD9_2006:207.2 Thrombocytic leukaemia SNOMEDCT_2005_07_31:190065009 acute Megakaryoblastic Leukemia (FAB type M7) NCI2004_11_17:C3170 acute Megakaryocytic Leukemias MTH:NOCODE acute megakaryoblastic leukaemia, FAB M7 SNOMEDCT_2005_07_31:277602003 acute megakaryoblastic leukemia, FAB M7 (disorder) SNOMEDCT_2005_07_31:94149003 A Simplexvirus infectious disease that results_in inflammation located_in external ear, has_material_basis_in Human herpesvirus 1 or has-agent Human herpesvirus 2 and has_symptom vesicles in the ear canal. Herpes simplex otitis externa (disorder) disease_ontology DOID:8762 Herpes simplex virus otitis externa true A Simplexvirus infectious disease that results_in inflammation located_in external ear, has_material_basis_in Human herpesvirus 1 or has-agent Human herpesvirus 2 and has_symptom vesicles in the ear canal. url:http://books.google.com/books?id=V5Snw0Q8LrEC&pg=PA53&lpg Herpes simplex otitis externa (disorder) SNOMEDCT_2005_07_31:111856000 A Simplexvirus infectious disease that results in inflammatory response by the immune system of the body to Human herpesvirus 1 or Human herpesvirus 2 in the blood, urine, lungs, skin, or other tissues. The symptoms include fever, chills, rapid breathing, and rapid heart rate. DOID:8971 Herpes simplex septicemia (disorder) visceral herpes simplex disease_ontology DOID:8765 Herpes simplex virus septicemia true A Simplexvirus infectious disease that results in inflammatory response by the immune system of the body to Human herpesvirus 1 or Human herpesvirus 2 in the blood, urine, lungs, skin, or other tissues. The symptoms include fever, chills, rapid breathing, and rapid heart rate. url:http://www.nlm.nih.gov/medlineplus/ency/article/001355.htm Herpes simplex septicemia (disorder) SNOMEDCT_2005_07_31:49012006 disease_ontology DOID:8766 lymphosarcoma involving intra-abdominal lymph nodes true disease_ontology DOID:8767 malignant histiocytosis involving lymph nodes of axilla and upper limb true disease_ontology DOID:8768 nodular lymphoma involving spleen true malignant histiocytosis of lymph nodes of inguinal region and lower limb (disorder) malignant histiocytosis of lymph nodes of inguinal region and/or lower limb (disorder) disease_ontology DOID:8769 malignant histiocytosis involving lymph nodes of inguinal region and lower limb true malignant histiocytosis of lymph nodes of inguinal region and lower limb (disorder) SNOMEDCT_2005_07_31:188642004 malignant histiocytosis of lymph nodes of inguinal region and/or lower limb (disorder) SNOMEDCT_2005_07_31:93187000 Reticulosarcoma of intra-abdominal lymph nodes Reticulosarcoma of intra-abdominal lymph nodes (disorder) disease_ontology DOID:8770 reticulosarcoma involving intra-abdominal lymph nodes true Reticulosarcoma of intra-abdominal lymph nodes SNOMEDCT_2005_07_31:188491003 Reticulosarcoma of intra-abdominal lymph nodes (disorder) SNOMEDCT_2005_07_31:95224004 A viral infectious disease that results_in infection located_in skin, has_material_basis_in Orf virus, which is transmitted_by contact with infected or recently vaccinated animals, or transmitted_by fomites carrying the virus. The infection has_symptom lesions on the finger, hand, arm, face, and penis. ICD10CM:B08.02 ICD9CM:051.2 MESH:D004474 SNOMEDCT_US_2016_03_01:154344005 SNOMEDCT_US_2016_03_01:266193008 SNOMEDCT_US_2016_03_01:74050005 UMLS_CUI:C0013570 Ecthyma contagiosum Ecthyma, Contagious Orf scabby mouth sheep pox thistle disease disease_ontology DOID:8771 contagious pustular dermatitis A viral infectious disease that results_in infection located_in skin, has_material_basis_in Orf virus, which is transmitted_by contact with infected or recently vaccinated animals, or transmitted_by fomites carrying the virus. The infection has_symptom lesions on the finger, hand, arm, face, and penis. url:http://en.wikipedia.org/wiki/Orf_%28disease%29 url:http://www.cdc.gov/mmwr/preview/mmwrhtml/mm5503a1.htm Ecthyma contagiosum MTHICD9_2006:051.2 Ecthyma, Contagious MTH:NOCODE Orf SNOMEDCT_2005_07_31:266193008 nodular lymphoma involving lymph nodes of head, face and neck nodular lymphoma of lymph nodes of head, face and neck (disorder) nodular lymphoma of lymph nodes of head, face, and neck (disorder) disease_ontology DOID:8773 nodular lymphoma involving lymph nodes of head, face, and neck true nodular lymphoma involving lymph nodes of head, face and neck MTHICD9_2006:202.01 nodular lymphoma of lymph nodes of head, face and neck (disorder) SNOMEDCT_2005_07_31:188609000 nodular lymphoma of lymph nodes of head, face, and neck (disorder) SNOMEDCT_2005_07_31:95190008 DOID:3129 Proctosigmoiditis (disorder) chronic ulcerative rectosigmoiditis (disorder) proctosigmoiditis ulcerative (chronic) proctosigmoiditis ulcerative proctosigmoiditis disease_ontology DOID:8775 ulcerative proctosigmoiditis true Proctosigmoiditis (disorder) SNOMEDCT_2005_07_31:41364008 chronic ulcerative rectosigmoiditis (disorder) SNOMEDCT_2005_07_31:52506002 ulcerative proctosigmoiditis MTHICD9_2006:556.3 An intestinal disease that involves inflammation located_in intestine. DOID:8784 DOID:8855 DOID:8942 EFO:0000384 ICD10CM:K50.1 ICD9CM:555.1 MESH:D003424 NCI:C35211 NCI:C37262 SNOMEDCT_US_2016_03_01:155762006 SNOMEDCT_US_2016_03_01:196981009 SNOMEDCT_US_2016_03_01:196982002 SNOMEDCT_US_2016_03_01:266446008 SNOMEDCT_US_2016_03_01:50440006 SNOMEDCT_US_2016_03_01:7620006 UMLS_CUI:C0156147 Crohn disease Crohn's disease of colon (disorder) Crohn's disease of large bowel Granulomatous Colitis Pediatric Crohn's disease disease_ontology DOID:8778 MESH:C536215 added from NeuroDevNet [WAK]. Crohn's disease An intestinal disease that involves inflammation located_in intestine. url:http://en.wikipedia.org/wiki/Chron%27s_disease Crohn disease MESH:D003424 Crohn's disease of colon (disorder) SNOMEDCT_2005_07_31:50440006 Crohn's disease of large bowel MTH:NOCODE Granulomatous Colitis NCI2004_11_17:C37262 Pediatric Crohn's disease MESH:C536215 A viral infectious disease that results_in infection located_in skin, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom rash on the face which spreads to the trunk and limbs, has_symptom fever, has_symptom lymphadenopathy, has_symptom joint pains, has_symptom headache, and has_symptom conjunctivitis. DOID:11765 DOID:1463 DOID:1464 DOID:8780 DOID:8816 DOID:8909 DOID:9106 DOID:9116 DOID:9162 DOID:9179 ICD10CM:B06 ICD10CM:B06.9 ICD9CM:056 MESH:D012409 NCI:C85051 SNOMEDCT_US_2016_03_01:154343004 SNOMEDCT_US_2016_03_01:266192003 SNOMEDCT_US_2016_03_01:36653000 UMLS_CUI:C0035920 german measles disease_ontology DOID:8781 rubella A viral infectious disease that results_in infection located_in skin, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom rash on the face which spreads to the trunk and limbs, has_symptom fever, has_symptom lymphadenopathy, has_symptom joint pains, has_symptom headache, and has_symptom conjunctivitis. url:http://en.wikipedia.org/wiki/Rubella german measles SNOMEDCT_2005_07_31:266192003 A Varicellovirus infectious disease that results_in pain located_in nerve fiber, has_material_basis_in Human herpesvirus 3, which reactivates after the primary infection, has_symptom severe pain, has_symptom sensitivity to light touch, has_symptom muscle weakness, has_symptom paralysis, and has_symptom itching. disease_ontology DOID:8785 postherpetic polyneuropathy true A Varicellovirus infectious disease that results_in pain located_in nerve fiber, has_material_basis_in Human herpesvirus 3, which reactivates after the primary infection, has_symptom severe pain, has_symptom sensitivity to light touch, has_symptom muscle weakness, has_symptom paralysis, and has_symptom itching. url:http://www.mayoclinic.com/health/postherpetic-neuralgia/DS00277 ICD10CM:H30.1 ICD10CM:H30.10 ICD9CM:363.1 ICD9CM:363.10 SNOMEDCT_US_2016_03_01:193441002 SNOMEDCT_US_2016_03_01:193447003 SNOMEDCT_US_2016_03_01:78769001 UMLS_CUI:C0154879 disease_ontology DOID:8787 disseminated chorioretinitis ICD10CM:D05 ICD10CM:D05.9 ICD9CM:233.0 NCI:C3641 SNOMEDCT_US_2016_03_01:154636004 SNOMEDCT_US_2016_03_01:189336000 UMLS_CUI:C0154084 Non-Infiltrating carcinoma of breast carcinoma in situ of breast disease_ontology DOID:8791 breast carcinoma in situ Non-Infiltrating carcinoma of breast NCI2004_11_17:C3641 carcinoma in situ of breast SNOMEDCT_2005_07_31:189336000 A carcinoma in situ that is characterized by the spread of cancer in the eye and the lack of invasion of surrounding tissues. ICD10CM:D09.2 ICD9CM:234.0 SNOMEDCT_US_2016_03_01:92590009 UMLS_CUI:C0154094 carcinoma in situ of eye disease_ontology DOID:8792 eye carcinoma in situ A carcinoma in situ that is characterized by the spread of cancer in the eye and the lack of invasion of surrounding tissues. url:http://en.wikipedia.org/wiki/Carcinoma_in_situ carcinoma in situ of eye SNOMEDCT_2005_07_31:92590009 Hodgkin's disease, lymphocytic-histiocytic predominance of intrathoracic lymph nodes (disorder) Hodgkin's disease, lymphocytic-histiocytic predominance of intrathoracic lymph nodes [dup] (disorder) disease_ontology Hodgkin's disease, lymphocytic-histiocytic predominance involving intrathoracic lymph nodes DOID:8794 Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving intrathoracic lymph nodes true Hodgkin's disease, lymphocytic-histiocytic predominance of intrathoracic lymph nodes (disorder) SNOMEDCT_2005_07_31:93495008 Hodgkin's disease, lymphocytic-histiocytic predominance of intrathoracic lymph nodes [dup] (disorder) SNOMEDCT_2005_07_31:188555008 Hodgkin's granuloma of spleen Hodgkin's granuloma of spleen (disorder) disease_ontology DOID:8795 Hodgkin's granuloma involving spleen true Hodgkin's granuloma of spleen SNOMEDCT_2005_07_31:188540004 Hodgkin's granuloma of spleen (disorder) SNOMEDCT_2005_07_31:93536009 Hodgkin's disease, mixed cellularity of spleen Hodgkin's disease, mixed cellularity of spleen (disorder) disease_ontology Hodgkin's disease, mixed cellularity, involving spleen DOID:8798 Hodgkin's lymphoma, mixed cellularity, involving spleen true Hodgkin's disease, mixed cellularity of spleen SNOMEDCT_2005_07_31:188581007 Hodgkin's disease, mixed cellularity of spleen (disorder) SNOMEDCT_2005_07_31:93509007 ICD10CM:D02.2 ICD9CM:231.2 SNOMEDCT_US_2016_03_01:189262006 SNOMEDCT_US_2016_03_01:189268005 UMLS_CUI:C0154071 disease_ontology DOID:8800 lung carcinoma in situ ICD10CM:D02.1 ICD9CM:231.1 NCI:C3639 SNOMEDCT_US_2016_03_01:92772005 UMLS_CUI:C0154070 Tracheal carcinoma In situ carcinoma in situ of trachea disease_ontology DOID:8802 trachea carcinoma in situ Tracheal carcinoma In situ NCI2004_11_17:C3639 carcinoma in situ of trachea SNOMEDCT_2005_07_31:92772005 Repetitive intrusions of sleep (disorder) disease_ontology DOID:8803 repetitive intrusions of sleep true Repetitive intrusions of sleep (disorder) SNOMEDCT_2005_07_31:268654005 ICD10CM:I20.0 ICD9CM:411.1 MESH:D000789 NCI:C66911 SNOMEDCT_US_2016_03_01:155308009 SNOMEDCT_US_2016_03_01:155313008 SNOMEDCT_US_2016_03_01:155314002 SNOMEDCT_US_2016_03_01:194814006 SNOMEDCT_US_2016_03_01:194816008 SNOMEDCT_US_2016_03_01:194817004 SNOMEDCT_US_2016_03_01:194819001 SNOMEDCT_US_2016_03_01:233818002 SNOMEDCT_US_2016_03_01:233820004 SNOMEDCT_US_2016_03_01:25106000 SNOMEDCT_US_2016_03_01:4557003 SNOMEDCT_US_2016_03_01:59021001 SNOMEDCT_US_2016_03_01:64333001 UMLS_CUI:C0002965 (Angina: [crescendo] or [unstable] or [at rest]) or (preinfarction syndrome) or (impending infarction) Angina at rest Anginal chest pain at rest Impending infarction (disorder) Preinfarction angina Preinfarction angina (disorder) Unstable angina Worsening angina disease_ontology DOID:8805 intermediate coronary syndrome (Angina: [crescendo] or [unstable] or [at rest]) or (preinfarction syndrome) or (impending infarction) SNOMEDCT_2005_07_31:194814006 Angina at rest SNOMEDCT_2005_07_31:155313008 Angina at rest SNOMEDCT_2005_07_31:194817004 Angina at rest SNOMEDCT_2005_07_31:233818002 Anginal chest pain at rest SNOMEDCT_2005_07_31:59021001 Impending infarction (disorder) SNOMEDCT_2005_07_31:25106000 Preinfarction angina MTHICD9_2006:411.1 Preinfarction angina (disorder) SNOMEDCT_2005_07_31:64333001 Unstable angina MTH:NOCODE Unstable angina SNOMEDCT_2005_07_31:155308009 Unstable angina SNOMEDCT_2005_07_31:194816008 Unstable angina SNOMEDCT_2005_07_31:233820004 Worsening angina SNOMEDCT_2005_07_31:155314002 Worsening angina SNOMEDCT_2005_07_31:194819001 Worsening angina SNOMEDCT_2005_07_31:4557003 malignant histiocytosis of intrapelvic lymph nodes (disorder) disease_ontology DOID:8806 malignant histiocytosis involving intrapelvic lymph nodes true malignant histiocytosis of intrapelvic lymph nodes (disorder) SNOMEDCT_2005_07_31:93183001 disease_ontology DOID:8807 allergic gastroenteritis and colitis true malignant histiocytosis of intrathoracic lymph nodes (disorder) disease_ontology DOID:8811 malignant histiocytosis involving intrathoracic lymph nodes true malignant histiocytosis of intrathoracic lymph nodes (disorder) SNOMEDCT_2005_07_31:93184007 A Measles virus infectious disease that results_in inflammation located_in middle ear, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom pain in the ear. postmeasles otitis media disease_ontology DOID:8812 Measles virus otitis media true A Measles virus infectious disease that results_in inflammation located_in middle ear, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom pain in the ear. url:http://books.google.com/books?id=tvtJabldoKgC&pg=PA2296&lpg=PA2296&dq#v=onepage&q&f=false A parasitic helminthiasis infectious disease that involves intestinal infection by the parasite of the genus Heterophyes. The symptoms are diarrhea and colicky abdominal pain. Migration of the eggs to the heart, results in fatal myocardial and valvular damage. Brain can also be infected. ICD10CM:B66.8 ICD9CM:121.6 SNOMEDCT_US_2016_03_01:187126008 SNOMEDCT_US_2016_03_01:22905009 UMLS_CUI:C0152071 heterophyes infectious disease disease_ontology DOID:882 heterophyiasis A parasitic helminthiasis infectious disease that involves intestinal infection by the parasite of the genus Heterophyes. The symptoms are diarrhea and colicky abdominal pain. Migration of the eggs to the heart, results in fatal myocardial and valvular damage. Brain can also be infected. url:http://www.dpd.cdc.gov/dpdx/HTML/Heterophyiasis.htm chronic ulcerative ileocolitis chronic ulcerative ileocolitis (disorder) ulcerative (chronic) ileocolitis disease_ontology DOID:8820 ulcerative ileocolitis true chronic ulcerative ileocolitis MTHICD9_2006:556.1 chronic ulcerative ileocolitis (disorder) SNOMEDCT_2005_07_31:13470001 Hodgkin's Paragranuloma Involving Spleen Hodgkin's paragranuloma of spleen Hodgkin's paragranuloma of spleen (disorder) disease_ontology DOID:8825 Hodgkin's paragranuloma involving spleen true Hodgkin's Paragranuloma Involving Spleen NCI2004_11_17:C26961 Hodgkin's paragranuloma of spleen SNOMEDCT_2005_07_31:188530002 Hodgkin's paragranuloma of spleen (disorder) SNOMEDCT_2005_07_31:93545005 ICD10CM:D01.0 ICD9CM:230.3 NCI:C3638 SNOMEDCT_US_2016_03_01:189230008 SNOMEDCT_US_2016_03_01:92568009 UMLS_CUI:C0154061 carcinoma in situ of colon stage 0 Colonic carcinoma disease_ontology DOID:8826 colon carcinoma in situ carcinoma in situ of colon SNOMEDCT_2005_07_31:92568009 stage 0 Colonic carcinoma NCI2004_11_17:C3638 SIRS systemic inflammatory response syndrome (SIRS) NOS systemic inflammatory response syndrome, unspecified disease_ontology DOID:8828 systemic inflammatory response syndrome true systemic inflammatory response syndrome (SIRS) NOS MTHICD9_2006:995.90 systemic inflammatory response syndrome, unspecified ICD9CM_2006:995.90 A parasitic infectious disease that occurs when part of the body is infested with parasitic worms such as cestodes, nematodes and trematodes. DOID:10693 DOID:3563 DOID:458 DOID:932 ICD10CM:B65-B83 ICD10CM:B83.9 ICD9CM:120-129.99 ICD9CM:128.9 MESH:D006373 NCI:C84751 SNOMEDCT_US_2016_03_01:154410004 SNOMEDCT_US_2016_03_01:187189004 SNOMEDCT_US_2016_03_01:187518006 SNOMEDCT_US_2016_03_01:187542005 SNOMEDCT_US_2016_03_01:266219000 SNOMEDCT_US_2016_03_01:27601005 UMLS_CUI:C0018889 helminth infection helminthiasis helminthosis worm infection disease_ontology DOID:883 parasitic helminthiasis infectious disease A parasitic infectious disease that occurs when part of the body is infested with parasitic worms such as cestodes, nematodes and trematodes. url:http://en.wikipedia.org/wiki/Helminth url:http://en.wikipedia.org/wiki/Helminthiasis Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of multiple sites Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of multiple sites (disorder) disease_ontology Hodgkin's disease, lymphocytic-histiocytic predominance involving lymph nodes of multiple sites DOID:8832 Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving lymph nodes of multiple sites true Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of multiple sites SNOMEDCT_2005_07_31:93499002 Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of multiple sites (disorder) SNOMEDCT_2005_07_31:188562004 Burkitt's lymphoma of lymph nodes of head, face and neck (disorder) Burkitt's tumor or lymphoma involving lymph nodes of head, face and neck disease_ontology DOID:8836 Burkitt's tumor or lymphoma involving lymph nodes of head, face, and neck true Burkitt's lymphoma of lymph nodes of head, face and neck (disorder) SNOMEDCT_2005_07_31:188510001 Burkitt's tumor or lymphoma involving lymph nodes of head, face and neck MTHICD9_2006:200.21 Hodgkin's disease, nodular sclerosis of lymph nodes of head, face and neck (disorder) Hodgkin's disease, nodular sclerosis of lymph nodes of head, face and/or neck (disorder) Hodgkin's disease, nodular sclerosis, involving lymph nodes of head, face and neck disease_ontology DOID:8837 Hodgkin's lymphoma, nodular sclerosis, involving lymph nodes of head, face, and neck true Hodgkin's disease, nodular sclerosis of lymph nodes of head, face and neck (disorder) SNOMEDCT_2005_07_31:188565002 Hodgkin's disease, nodular sclerosis of lymph nodes of head, face and/or neck (disorder) SNOMEDCT_2005_07_31:93515007 Hodgkin's disease, nodular sclerosis, involving lymph nodes of head, face and neck MTHICD9_2006:201.51 ICD10CM:C81.1 ICD9CM:201.5 NCI:C3518 SNOMEDCT_US_2016_03_01:118608000 SNOMEDCT_US_2016_03_01:134178004 SNOMEDCT_US_2016_03_01:188564003 SNOMEDCT_US_2016_03_01:188573006 SNOMEDCT_US_2016_03_01:52248008 UMLS_CUI:C0152268 Classical Hodgkin lymphoma, nodular sclerosis Hodgkin lymphoma, nodular sclerosis Hodgkin's disease nodular sclerosis NOS Hodgkin's disease, nodular sclerosis (disorder) Hodgkin's disease, nodular sclerosis NOS (disorder) Hodgkin's disease, nodular sclerosis NOS (morphologic abnormality) Hodgkin's disease, nodular sclerosis of unspecified site (disorder) NSHL disease_ontology Hodgkin's disease, nodular sclerosis DOID:8838 Hodgkin's lymphoma, nodular sclerosis Classical Hodgkin lymphoma, nodular sclerosis SNOMEDCT_2005_07_31:52248008 Hodgkin's disease nodular sclerosis NOS MTHICD9_2006:201.5 Hodgkin's disease, nodular sclerosis (disorder) SNOMEDCT_2005_07_31:118608000 Hodgkin's disease, nodular sclerosis NOS (disorder) SNOMEDCT_2005_07_31:188573006 Hodgkin's disease, nodular sclerosis NOS (morphologic abnormality) SNOMEDCT_2005_07_31:134178004 Hodgkin's disease, nodular sclerosis of unspecified site (disorder) SNOMEDCT_2005_07_31:188564003 NSHL NCI2004_11_17:C3518 An ophthalmic herpes zoster that results_in inflammation located_in cornea and located_in conjunctiva, has_material_basis_in Human herpesvirus 3, which reactivates from the trigeminal ganglion after the primary infection and has_symptom red eye, has_symptom irritation, and has_symptom pain. Herpes zoster keratitis disease_ontology DOID:8839 herpes zoster keratoconjunctivitis true An ophthalmic herpes zoster that results_in inflammation located_in cornea and located_in conjunctiva, has_material_basis_in Human herpesvirus 3, which reactivates from the trigeminal ganglion after the primary infection and has_symptom red eye, has_symptom irritation, and has_symptom pain. url:http://books.google.com/books?id=fAlrbE9zBIwC&pg=PA240&lpg#v=onepage&q&f=false Herpes zoster keratitis SNOMEDCT_2005_07_31:42448002 A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Metagonimus yokogawai. The symptoms are diarrhea and colicky abdominal pain. The heart and brain can also be infected. ICD10CM:B66.8 ICD9CM:121.5 MESH:D014201 SNOMEDCT_US_2016_03_01:37832003 UMLS_CUI:C0025530 Infection by Metagonimus yokogawai Infection by Metagonimus yokogawai (disorder) disease_ontology DOID:884 metagonimiasis A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Metagonimus yokogawai. The symptoms are diarrhea and colicky abdominal pain. The heart and brain can also be infected. url:http://www.dpd.cdc.gov/dpdx/HTML/Metagonimiasis.htm Infection by Metagonimus yokogawai MTHICD9_2006:121.5 Infection by Metagonimus yokogawai (disorder) SNOMEDCT_2005_07_31:37832003 Erythema nodosum with hypersensitivity reaction in tuberculosis Erythema nodosum with tuberculosis NOS (disorder) Erythema nodosum, tuberculous Tuberculous erythema nodosum Tuberculous erythema nodosum (disorder) erythema nodosum with hypersensitivity reaction in tuberculosis disease_ontology DOID:8844 tuberculous erythema nodosum true Erythema nodosum with hypersensitivity reaction in tuberculosis ICD9CM_2006:017.1 Erythema nodosum with tuberculosis NOS (disorder) SNOMEDCT_2005_07_31:186257009 Erythema nodosum, tuberculous MTHICD9_2006:017.1 Tuberculous erythema nodosum SNOMEDCT_2005_07_31:186255001 Tuberculous erythema nodosum SNOMEDCT_2005_07_31:186256000 Tuberculous erythema nodosum (disorder) SNOMEDCT_2005_07_31:74610006 Hodgkin's disease, nodular sclerosis of lymph nodes of multiple sites Hodgkin's disease, nodular sclerosis of lymph nodes of multiple sites (disorder) nodular Sclerosis Hodgkin's Lymphoma stage III disease_ontology Hodgkin's disease, nodular sclerosis, involving lymph nodes of multiple sites DOID:8847 Hodgkin's lymphoma, nodular sclerosis, involving lymph nodes of multiple sites true Hodgkin's disease, nodular sclerosis of lymph nodes of multiple sites SNOMEDCT_2005_07_31:93517004 Hodgkin's disease, nodular sclerosis of lymph nodes of multiple sites (disorder) SNOMEDCT_2005_07_31:188572001 nodular Sclerosis Hodgkin's Lymphoma stage III NCI2004_11_17:C3581 A salivary gland cancer that is located_in the sublingual gland. ICD10CM:C08.1 ICD9CM:142.2 NCI:C3527 SNOMEDCT_US_2016_03_01:363381003 SNOMEDCT_US_2016_03_01:94076001 UMLS_CUI:C0153361 malignant tumor of sublingual gland (disorder) malignant tumor of the Sublingual gland disease_ontology DOID:8849 sublingual gland cancer A salivary gland cancer that is located_in the sublingual gland. url:http://en.wikipedia.org/wiki/Sublingual_gland malignant tumor of sublingual gland (disorder) SNOMEDCT_2005_07_31:363381003 malignant tumor of the Sublingual gland NCI2004_11_17:C3527 A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Fasciola hepatica or Fasciola gigantica. During the acute phase, manifestations include abdominal pain, hepatomegaly, fever, vomiting, diarrhea, urticaria and eosinophilia. Occasionally, infection occurs in intestinal wall, lungs, subcutaneous tissue, and pharyngeal mucosa. ICD10CM:B66.3 ICD9CM:121.3 MESH:D005211 SNOMEDCT_US_2016_03_01:111922007 SNOMEDCT_US_2016_03_01:187125007 UMLS_CUI:C0015652 Fasciola hepatica infection (disorder) Infection by Fasciola (disorder) Liver flukes NOS Liver flukes NOS (disorder) Sheep liver fluke infection disease_ontology DOID:885 fascioliasis A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Fasciola hepatica or Fasciola gigantica. During the acute phase, manifestations include abdominal pain, hepatomegaly, fever, vomiting, diarrhea, urticaria and eosinophilia. Occasionally, infection occurs in intestinal wall, lungs, subcutaneous tissue, and pharyngeal mucosa. url:http://www.dpd.cdc.gov/dpdx/HTML/Fascioliasis.htm Fasciola hepatica infection (disorder) SNOMEDCT_2005_07_31:82308007 Infection by Fasciola (disorder) SNOMEDCT_2005_07_31:111922007 Liver flukes NOS MTHICD9_2006:121.3 Liver flukes NOS (disorder) SNOMEDCT_2005_07_31:240799001 Sheep liver fluke infection SNOMEDCT_2005_07_31:187125007 An oral cavity cancer that is located_in the salivary gland. DOID:8873 DOID:9148 ICD10CM:C08 ICD9CM:142.8 SNOMEDCT_US_2016_03_01:187648003 UMLS_CUI:C0153362 malignant neoplasm of major salivary gland malignant neoplasm of salivary gland malignant neoplasm of salivary gland duct malignant tumor of the Major Salivary gland malignant tumor of the Salivary gland disease_ontology DOID:8850 salivary gland cancer An oral cavity cancer that is located_in the salivary gland. url:http://www.cancer.gov/dictionary?CdrID=446528 malignant neoplasm of major salivary gland MTH:U001373 malignant neoplasm of salivary gland MTH:NOCODE malignant neoplasm of salivary gland duct SNOMEDCT_2005_07_31:109828002 malignant tumor of the Major Salivary gland NCI2004_11_17:C4762 malignant tumor of the Salivary gland NCI2004_11_17:C3811 Hodgkin's granuloma of intra-abdominal lymph nodes (disorder) disease_ontology DOID:8852 Hodgkin's granuloma involving intra-abdominal lymph nodes true Hodgkin's granuloma of intra-abdominal lymph nodes (disorder) SNOMEDCT_2005_07_31:188536008 Hodgkin's granuloma of intra-abdominal lymph nodes (disorder) SNOMEDCT_2005_07_31:93529008 Hodgkin's disease, lymphocytic depletion of intrathoracic lymph nodes Hodgkin's disease, lymphocytic depletion of intrathoracic lymph nodes (disorder) disease_ontology Hodgkin's disease, lymphocytic depletion, involving intrathoracic lymph nodes DOID:8854 Hodgkin's lymphoma, lymphocytic depletion, involving intrathoracic lymph nodes true Hodgkin's disease, lymphocytic depletion of intrathoracic lymph nodes SNOMEDCT_2005_07_31:93486000 Hodgkin's disease, lymphocytic depletion of intrathoracic lymph nodes (disorder) SNOMEDCT_2005_07_31:188586002 ICD10CM:L93 ICD10CM:L93.0 ICD9CM:695.4 NCI:C27153 SNOMEDCT_US_2016_03_01:200936003 SNOMEDCT_US_2016_03_01:200944003 UMLS_CUI:C0409974 lupus disease_ontology DOID:8857 lupus erythematosus lupus NCI2004_11_17:C27153 ICD10CM:C09 ICD10CM:C09.9 ICD9CM:146.0 MESH:D014067 NCI:C7404 SNOMEDCT_US_2016_03_01:187671001 SNOMEDCT_US_2016_03_01:187672008 SNOMEDCT_US_2016_03_01:187674009 SNOMEDCT_US_2016_03_01:363393007 SNOMEDCT_US_2016_03_01:93937006 UMLS_CUI:C0751560 malignant Tonsillar tumor malignant neoplasm of faucial tonsil (disorder) malignant neoplasm of palatine tonsil (disorder) malignant neoplasm of tonsil, faucial malignant tumor of tonsil (disorder) disease_ontology DOID:8858 tonsil cancer malignant Tonsillar tumor NCI2004_11_17:C7404 malignant neoplasm of faucial tonsil (disorder) SNOMEDCT_2005_07_31:187671001 malignant neoplasm of palatine tonsil (disorder) SNOMEDCT_2005_07_31:187672008 malignant neoplasm of tonsil, faucial MTHICD9_2006:146.0 malignant tumor of tonsil (disorder) SNOMEDCT_2005_07_31:363393007 disease_ontology DOID:8860 lymphosarcoma involving spleen true ICD10CM:Q24.3 ICD9CM:746.83 MESH:D011662 NCI:C34961 SNOMEDCT_US_2016_03_01:204370002 SNOMEDCT_US_2016_03_01:3192005 UMLS_CUI:C0034084 Congenital Infundibular Stenosis Infundibular pulmonic stenosis (disorder) Infundibular pulmonic stenosis, congenital Subvalvular pulmonic stenosis pulmonary infundibular stenosis (disorder) disease_ontology DOID:8861 pulmonary subvalvular stenosis Congenital Infundibular Stenosis NCI2004_11_17:C34961 Infundibular pulmonic stenosis (disorder) SNOMEDCT_2005_07_31:3192005 Infundibular pulmonic stenosis, congenital ICD9CM_2006:746.83 Subvalvular pulmonic stenosis MTHICD9_2006:746.83 pulmonary infundibular stenosis (disorder) SNOMEDCT_2005_07_31:204370002 DOID:9208 CSP:2004-2820 ICD9CM:206.0 MESH:D007948 OMIM:151380 SNOMEDCT_US_2016_03_01:154594005 SNOMEDCT_US_2016_03_01:22331004 SNOMEDCT_US_2016_03_01:413441006 SNOMEDCT_US_2016_03_01:91859000 UMLS_CUI:C0023465 acute Monoblastic Leukemia and acute Monocytic Leukemia acute monocytic leukemia without mention of remission acute monocytic leukemia, FAB M5 (disorder) acute monocytic leukemia, morphology (morphologic abnormality) disease_ontology DOID:8864 OMIM mapping confirmed by DO. [SN]. acute monocytic leukemia acute Monoblastic Leukemia and acute Monocytic Leukemia NCI2004_11_17:C7318 acute monocytic leukemia, FAB M5 (disorder) SNOMEDCT_2005_07_31:91859000 acute monocytic leukemia, morphology (morphologic abnormality) SNOMEDCT_2005_07_31:22331004 ICD10CM:L57.0 ICD9CM:702.0 MESH:D055623 NCI:C3148 SNOMEDCT_US_2016_03_01:156395005 SNOMEDCT_US_2016_03_01:156398007 SNOMEDCT_US_2016_03_01:156400006 SNOMEDCT_US_2016_03_01:201096007 SNOMEDCT_US_2016_03_01:201097003 SNOMEDCT_US_2016_03_01:201098008 SNOMEDCT_US_2016_03_01:201101007 SNOMEDCT_US_2016_03_01:201106002 SNOMEDCT_US_2016_03_01:201107006 SNOMEDCT_US_2016_03_01:267858008 SNOMEDCT_US_2016_03_01:267860005 SNOMEDCT_US_2016_03_01:46795000 SNOMEDCT_US_2016_03_01:856006 UMLS_CUI:C0022602 SK - Solar keratosis Senile hyperkeratosis Solar keratosis actinic (Solar) Keratosis disease_ontology DOID:8866 actinic keratosis SK - Solar keratosis SNOMEDCT_2005_07_31:46795000 Senile hyperkeratosis SNOMEDCT_2005_07_31:201106002 Solar keratosis SNOMEDCT_2005_07_31:267860005 actinic (Solar) Keratosis NCI2004_11_17:C3148 A viral infectious disease that results_in infection located_in skin, has_material_basis_in Molluscum contagiosum virus, which is transmitted_by contact with the skin, and transmitted_by fomites. The infection has_symptom lesions which are flesh-colored with a pit in the center. ICD10CM:B08.1 ICD9CM:078.0 MESH:D008976 SNOMEDCT_US_2016_03_01:154360009 SNOMEDCT_US_2016_03_01:40070004 UMLS_CUI:C0026393 disease_ontology DOID:8867 molluscum contagiosum A viral infectious disease that results_in infection located_in skin, has_material_basis_in Molluscum contagiosum virus, which is transmitted_by contact with the skin, and transmitted_by fomites. The infection has_symptom lesions which are flesh-colored with a pit in the center. url:http://en.wikipedia.org/wiki/Molluscum_contagiosum url:http://www.cdc.gov/ncidod/dvrd/molluscum/overview.htm Mycosis fungoides of lymph nodes of multiple sites (disorder) disease_ontology DOID:8868 Mycosis fungoides involving lymph nodes of multiple sites true Mycosis fungoides of lymph nodes of multiple sites (disorder) SNOMEDCT_2005_07_31:188627002 Mycosis fungoides of lymph nodes of multiple sites (disorder) SNOMEDCT_2005_07_31:94713008 A central nervous system disease characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis). EFO:0004256 ICD10CM:G36.0 ICD9CM:341.0 MESH:D009471 NCI:C84934 SNOMEDCT_US_2016_03_01:25044007 UMLS_CUI:C0027873 Devic's disease Devic's syndrome disease_ontology DOID:8869 neuromyelitis optica A central nervous system disease characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis). url:http://en.wikipedia.org/wiki/Neuromyelitis_optica url:http://rarediseases.org/rare-diseases/neuromyelitis-optica/ Devic's disease ICD10CM:G36.0 A parasitic helminthiasis infectious disease that involves infection by parasitic worms known as flukes, which are carried to various organs through blood stream. Fluke infection Trematode infestation disease_ontology DOID:887 Trematoda infectious disease true A parasitic helminthiasis infectious disease that involves infection by parasitic worms known as flukes, which are carried to various organs through blood stream. url:http://en.wikipedia.org/wiki/Trematoda Fluke infection SNOMEDCT_2005_07_31:51065006 Trematode infestation SNOMEDCT_2005_07_31:266219000 nodular lymphoma of intrathoracic lymph nodes nodular lymphoma of intrathoracic lymph nodes (disorder) disease_ontology DOID:8870 nodular lymphoma involving intrathoracic lymph nodes true nodular lymphoma of intrathoracic lymph nodes SNOMEDCT_2005_07_31:188610005 nodular lymphoma of intrathoracic lymph nodes (disorder) SNOMEDCT_2005_07_31:95188007 disease_ontology Hodgkin's disease, nodular sclerosis, extranodal and solid organ sites DOID:8871 Hodgkin's lymphoma, nodular sclerosis, extranodal and solid organ sites true ICD10CM:D00-D09 ICD10CM:D07.4 ICD9CM:233.5 NCI:C27790 SNOMEDCT_US_2016_03_01:18348002 SNOMEDCT_US_2016_03_01:189208007 SNOMEDCT_US_2016_03_01:255104003 SNOMEDCT_US_2016_03_01:255105002 SNOMEDCT_US_2016_03_01:255147003 SNOMEDCT_US_2016_03_01:398768004 SNOMEDCT_US_2016_03_01:398831006 SNOMEDCT_US_2016_03_01:400092004 SNOMEDCT_US_2016_03_01:92679008 UMLS_CUI:C0154089 Bowen's disease of penis Penile intraepithelial neoplasia grade III Queyrat's erythroplasia carcinoma in situ of penis grade III squamous Intraepithelial Lesion of penis disease_ontology DOID:8872 penis carcinoma in situ Bowen's disease of penis SNOMEDCT_2005_07_31:398831006 Penile intraepithelial neoplasia grade III SNOMEDCT_2005_07_31:400092004 Queyrat's erythroplasia SNOMEDCT_2005_07_31:255104003 carcinoma in situ of penis SNOMEDCT_2005_07_31:92679008 grade III squamous Intraepithelial Lesion of penis NCI2004_11_17:C27790 Hodgkin's sarcoma of lymph nodes of multiple sites (disorder) disease_ontology DOID:8875 Hodgkin's sarcoma involving lymph nodes of multiple sites true Hodgkin's sarcoma of lymph nodes of multiple sites (disorder) SNOMEDCT_2005_07_31:188551004 Hodgkin's sarcoma of lymph nodes of multiple sites (disorder) SNOMEDCT_2005_07_31:93553002 A genital herpes that results_in infection located_in vulva and located_in vagina, has_material_basis_in Human herpesvirus 1 or Human herpesvirus 2 and has_symptom fever, has_symptom lymphadenopathy, and has_symptom lesions. Herpetic Vulvovaginitis Herpetic vulvovaginitis (disorder) disease_ontology DOID:8876 herpetic vulvovaginitis true A genital herpes that results_in infection located_in vulva and located_in vagina, has_material_basis_in Human herpesvirus 1 or Human herpesvirus 2 and has_symptom fever, has_symptom lymphadenopathy, and has_symptom lesions. url:http://books.google.com/books?id=tvtJabldoKgC&pg=PA1889&lpg#v=onepage&q&f=false Herpetic Vulvovaginitis NCI2004_11_17:C34697 Herpetic vulvovaginitis (disorder) SNOMEDCT_2005_07_31:27420004 A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Fasciolopsis buski. The symptoms include diarrhea, abdominal pain, fever, ascites, anasarca and intestinal obstruction. ICD10CM:B66.5 ICD9CM:121.4 MESH:D014201 SNOMEDCT_US_2016_03_01:54266002 UMLS_CUI:C0015656 Infection by Fasciolopsis buski (disorder) Infectious Disease by Fasciolopsis disease_ontology DOID:888 fasciolopsiasis A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Fasciolopsis buski. The symptoms include diarrhea, abdominal pain, fever, ascites, anasarca and intestinal obstruction. url:http://www.dpd.cdc.gov/dpdx/HTML/Fasciolopsiasis.htm Infection by Fasciolopsis buski (disorder) SNOMEDCT_2005_07_31:54266002 Infectious Disease by Fasciolopsis MTHICD9_2006:121.4 ICD10CM:L71 ICD10CM:L71.9 ICD9CM:695.3 MESH:D012393 NCI:C97136 SNOMEDCT_US_2016_03_01:156364003 SNOMEDCT_US_2016_03_01:1612004 SNOMEDCT_US_2016_03_01:200930009 SNOMEDCT_US_2016_03_01:200935004 SNOMEDCT_US_2016_03_01:267849001 SNOMEDCT_US_2016_03_01:398909004 UMLS_CUI:C0035854 Acne roscea Acne, erythematosa disease_ontology DOID:8881 rosacea Acne roscea SNOMEDCT_2005_07_31:156364003 Acne, erythematosa MTHICD9_2006:695.3 ICD10CM:C00.1 ICD9CM:140.1 SNOMEDCT_US_2016_03_01:187603002 SNOMEDCT_US_2016_03_01:187605009 SNOMEDCT_US_2016_03_01:363373004 SNOMEDCT_US_2016_03_01:94136008 UMLS_CUI:C0432520 disease_ontology DOID:8883 lower lip cancer ICD10CM:H30 ICD10CM:H30.9 ICD9CM:363.20 MESH:D002825 NCI:C110923 SNOMEDCT_US_2016_03_01:193432007 SNOMEDCT_US_2016_03_01:270531006 SNOMEDCT_US_2016_03_01:46627006 UMLS_CUI:C0008513 retinochoroiditis disease_ontology DOID:8886 chorioretinitis retinochoroiditis CSP2005:1114-9328 disease_ontology DOID:889 inborn metabolic brain disease true ICD10CM:L42 ICD9CM:696.3 MESH:D017515 NCI:C26855 SNOMEDCT_US_2016_03_01:156373006 SNOMEDCT_US_2016_03_01:77252004 UMLS_CUI:C0032026 Pityriasis Rosea Pityriasis circinata Pityriasis rosea (disorder) disease_ontology DOID:8892 pityriasis rosea Pityriasis Rosea NCI2004_11_17:C26855 Pityriasis circinata MTHICD9_2006:696.3 Pityriasis rosea (disorder) SNOMEDCT_2005_07_31:77252004 EFO:0000676 ICD10CM:L40 ICD10CM:L40.9 MESH:D011565 NCI:C3346 OMIM:177900 OMIM:601454 OMIM:602723 OMIM:603935 OMIM:604316 OMIM:605364 OMIM:605606 OMIM:607857 OMIM:610707 OMIM:612410 OMIM:612599 OMIM:612950 OMIM:614070 SNOMEDCT_US_2016_03_01:156369008 SNOMEDCT_US_2016_03_01:156371008 SNOMEDCT_US_2016_03_01:200961000 SNOMEDCT_US_2016_03_01:200978009 SNOMEDCT_US_2016_03_01:267851002 SNOMEDCT_US_2016_03_01:9014002 UMLS_CUI:C0033860 disease_ontology DOID:8893 Xref MGI. Update outdated UMLS CUI from C00295134 to C0033860. psoriasis MESH:D017237 SNOMEDCT_US_2016_03_01:447292006 UMLS_CUI:C0162666 disease_ontology DOID:890 mitochondrial encephalomyopathy Hodgkin's granuloma of lymph nodes of axilla and upper limb (disorder) Hodgkin's granuloma of lymph nodes of axilla and/or upper limb (disorder) disease_ontology DOID:8903 Hodgkin's granuloma involving lymph nodes of axilla and upper limb true Hodgkin's granuloma of lymph nodes of axilla and upper limb (disorder) SNOMEDCT_2005_07_31:188537004 Hodgkin's granuloma of lymph nodes of axilla and/or upper limb (disorder) SNOMEDCT_2005_07_31:93532006 nodular lymphoma of lymph nodes of inguinal region and lower limb (disorder) disease_ontology DOID:8904 nodular lymphoma involving lymph nodes of inguinal region and lower limb true nodular lymphoma of lymph nodes of inguinal region and lower limb (disorder) SNOMEDCT_2005_07_31:188613007 nodular lymphoma of lymph nodes of inguinal region and lower limb (disorder) SNOMEDCT_2005_07_31:95191007 A Varicellovirus infectious disease that results_in inflammation located_in external ear canal, has_material_basis_in Human herpesvirus 3, has_symptom pain in the outer ear, and has_symptom ear discharge. Herpes zoster otitis externa Otitis externa due to Herpes zoster (disorder) disease_ontology DOID:8906 herpes zoster otitis externa true A Varicellovirus infectious disease that results_in inflammation located_in external ear canal, has_material_basis_in Human herpesvirus 3, has_symptom pain in the outer ear, and has_symptom ear discharge. url:http://books.google.com/books?id=52s8lgAlRZIC&pg=PA301&lpg#v=onepage&q&f=false Herpes zoster otitis externa SNOMEDCT_2005_07_31:21954000 Otitis externa due to Herpes zoster (disorder) SNOMEDCT_2005_07_31:36292003 Nonspecific ulcerative proctitis (disorder) chronic ulcerative proctitis chronic ulcerative proctitis (disorder) ulcerative (chronic) proctitis disease_ontology DOID:8907 ulcerative proctitis true Nonspecific ulcerative proctitis (disorder) SNOMEDCT_2005_07_31:67038005 chronic ulcerative proctitis MTHICD9_2006:556.2 chronic ulcerative proctitis (disorder) SNOMEDCT_2005_07_31:52231000 MESH:D020191 NCI:C7636 OMIM:254900 OMIM:310370 OMIM:611726 OMIM:612437 OMIM:614018 SNOMEDCT_US_2016_03_01:192844008 SNOMEDCT_US_2016_03_01:267581004 SNOMEDCT_US_2016_03_01:89480000 UMLS_CUI:C0751778 PME progressive Myoclonus epilepsy progressive myoclonic epilepsy progressive myoclonic epilepsy (disorder) progressive myoclonic epilepsy (disorder) [Ambiguous] disease_ontology DOID:891 OMIM mapping confirmed by DO. [SN]. OMIM mapping submitted by NeuroDevNet. [LS]. progressive myoclonus epilepsy progressive Myoclonus epilepsy NCI2004_11_17:C7636 progressive myoclonic epilepsy MTHICD9_2006:333.2 progressive myoclonic epilepsy SNOMEDCT_2005_07_31:192844008 progressive myoclonic epilepsy (disorder) SNOMEDCT_2005_07_31:267581004 progressive myoclonic epilepsy (disorder) [Ambiguous] SNOMEDCT_2005_07_31:89480000 A superficial mycosis that is a superficial fungal infection of the skin characterized by brown to black macules which usually occur on the palmar aspects of hands and occasionally the plantar and other surfaces of the skin, caused by Hortaea werneckii, which is a common saprophytic fungus believed to occur in soil, compost, humus and on wood in humid tropical and sub-tropical regions. ICD10CM:B36.1 ICD9CM:111.1 SNOMEDCT_US_2016_03_01:1022006 SNOMEDCT_US_2016_03_01:183342005 SNOMEDCT_US_2016_03_01:184346000 SNOMEDCT_US_2016_03_01:185367005 SNOMEDCT_US_2016_03_01:186289000 SNOMEDCT_US_2016_03_01:187000000 SNOMEDCT_US_2016_03_01:266153005 UMLS_CUI:C0152067 Infection by Cladosporium werneckii Keratomycosis nigricans Tinea palmaris nigra disease_ontology microsporosis nigra DOID:8912 tinea nigra A superficial mycosis that is a superficial fungal infection of the skin characterized by brown to black macules which usually occur on the palmar aspects of hands and occasionally the plantar and other surfaces of the skin, caused by Hortaea werneckii, which is a common saprophytic fungus believed to occur in soil, compost, humus and on wood in humid tropical and sub-tropical regions. url:http://www.mycology.adelaide.edu.au/Mycoses/Superficial/Tinea_nigra/index.html Infection by Cladosporium werneckii SNOMEDCT_2005_07_31:183342005 Keratomycosis nigricans SNOMEDCT_2005_07_31:266153005 Tinea palmaris nigra SNOMEDCT_2005_07_31:184346000 A cutaneous mycosis that results_in fungal infection located_in scalp, located_in glabrous skin, or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which have the ability to utilize keratin as a nutrient source. ICD10CM:B35 ICD10CM:B35.9 ICD9CM:110 ICD9CM:110.9 NCI:C26745 SNOMEDCT_US_2016_03_01:154394006 SNOMEDCT_US_2016_03_01:186984003 SNOMEDCT_US_2016_03_01:186998006 SNOMEDCT_US_2016_03_01:187474000 SNOMEDCT_US_2016_03_01:266214005 SNOMEDCT_US_2016_03_01:47382004 UMLS_CUI:C0011636 disease_ontology DOID:8913 dermatophytosis A cutaneous mycosis that results_in fungal infection located_in scalp, located_in glabrous skin, or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which have the ability to utilize keratin as a nutrient source. url:http://www.mycology.adelaide.edu.au/Mycoses/Cutaneous/Dermatophytosis/index.html Burkitt's lymphoma of intrapelvic lymph nodes (disorder) disease_ontology DOID:8914 Burkitt's tumor or lymphoma involving intrapelvic lymph nodes true Burkitt's lymphoma of intrapelvic lymph nodes (disorder) SNOMEDCT_2005_07_31:188515006 A Varicellovirus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Human herpesvirus 3, which reactivates after the primary infection. The infection has_symptom fever, has_symptom headache, has_symptom cervical rigidity, has_symptom seizure, has_symptom ataxia, and has_symptom skin lesions. disease_ontology DOID:8915 herpes zoster meningitis true A Varicellovirus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Human herpesvirus 3, which reactivates after the primary infection. The infection has_symptom fever, has_symptom headache, has_symptom cervical rigidity, has_symptom seizure, has_symptom ataxia, and has_symptom skin lesions. url:http://synapse.koreamed.org/Synapse/Data/PDFData/0052KJP/kjp-52-705.pdf disease_ontology DOID:8916 mycosis fungoides involving lymph nodes of axilla and upper limb true Hodgkin's sarcoma of lymph nodes of inguinal region and lower limb (disorder) Hodgkin's sarcoma of lymph nodes of inguinal region and/or lower limb (disorder) disease_ontology DOID:8918 Hodgkin's sarcoma involving lymph nodes of inguinal region and lower limb true Hodgkin's sarcoma of lymph nodes of inguinal region and lower limb (disorder) SNOMEDCT_2005_07_31:188548006 Hodgkin's sarcoma of lymph nodes of inguinal region and/or lower limb (disorder) SNOMEDCT_2005_07_31:93552007 Mycosis fungoides of lymph nodes of inguinal region and lower limb (disorder) Mycosis fungoides of lymph nodes of inguinal region and/or lower limb (disorder) disease_ontology DOID:8919 Mycosis fungoides involving lymph nodes of inguinal region and lower limb true Mycosis fungoides of lymph nodes of inguinal region and lower limb (disorder) SNOMEDCT_2005_07_31:188624009 Mycosis fungoides of lymph nodes of inguinal region and/or lower limb (disorder) SNOMEDCT_2005_07_31:94712003 ICD10CM:N89.4 ICD9CM:623.1 NCI:C3663 SNOMEDCT_US_2016_03_01:111420009 UMLS_CUI:C0156385 vaginal Leukoplakia disease_ontology DOID:8920 leukoplakia of vagina vaginal Leukoplakia NCI2004_11_17:C3663 disease_ontology DOID:8921 noninflammatory vaginal disorder true A skin cancer that has_material_basis_in melanocytes. DOID:0050609 DOID:10043 DOID:10046 DOID:10051 DOID:10052 DOID:10055 DOID:8922 ICD10CM:C43 ICD10CM:C43.0 ICD10CM:C43.2 ICD10CM:C43.4 ICD10CM:C43.9 ICD9CM:172 ICD9CM:172.0 ICD9CM:172.2 ICD9CM:172.4 ICD9CM:172.5 ICD9CM:172.9 MESH:C562393 NCI:C3510 OMIM:608035 OMIM:609048 OMIM:612263 OMIM:613099 OMIM:613972 OMIM:614456 OMIM:615134 OMIM:615848 SNOMEDCT_US_2016_03_01:154501005 SNOMEDCT_US_2016_03_01:154506000 SNOMEDCT_US_2016_03_01:188030005 SNOMEDCT_US_2016_03_01:188032002 SNOMEDCT_US_2016_03_01:188035000 SNOMEDCT_US_2016_03_01:188044004 SNOMEDCT_US_2016_03_01:188047006 SNOMEDCT_US_2016_03_01:188082007 SNOMEDCT_US_2016_03_01:190105009 SNOMEDCT_US_2016_03_01:269577007 SNOMEDCT_US_2016_03_01:93640008 SNOMEDCT_US_2016_03_01:93641007 SNOMEDCT_US_2016_03_01:93653006 SNOMEDCT_US_2016_03_01:93655004 UMLS_CUI:C0151779 UMLS_CUI:C0153529 UMLS_CUI:C0153535 UMLS_CUI:C0153536 UMLS_CUI:C0346773 UMLS_CUI:C0346782 UMLS_CUI:C1112782 cutaneous melanoma malignant ear melanoma malignant lip melanoma malignant lower limb melanoma malignant melanoma of ear and/or external auricular canal malignant melanoma of skin of lower limb malignant melanoma of skin of trunk except scrotum malignant melanoma of skin of upper limb malignant neck melanoma malignant scalp melanoma malignant trunk melanoma malignant upper limb melanoma disease_ontology DOID:8923 Xref MGI. OMIM mapping confirmed by DO. [LS]. skin melanoma A skin cancer that has_material_basis_in melanocytes. url:http://cancergenome.nih.gov/cancersselected/melanoma url:http://en.wikipedia.org/wiki/Melanoma url:http://www.cancer.gov/dictionary?CdrID=45135 A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies. DOID:0050124 DOID:2220 ICD10CM:D69.3 ICD9CM:287.31 MESH:D016553 NCI:C3446 OMIM:188030 SNOMEDCT_US_2016_03_01:13172003 SNOMEDCT_US_2016_03_01:154825008 SNOMEDCT_US_2016_03_01:191315003 SNOMEDCT_US_2016_03_01:191316002 SNOMEDCT_US_2016_03_01:234490009 SNOMEDCT_US_2016_03_01:267567001 SNOMEDCT_US_2016_03_01:32273002 UMLS_CUI:C0398650 Autoimmune thrombocytopenic purpura Immune thrombocytopenic purpura (disorder) idiopathic thrombocytopenic purpura primary thrombocytopenic purpura disease_ontology Ideopath thrombocytopenic pur Idiopathic purpura werlhof's disease DOID:8924 OMIM mapping confirmed by DO. [SN]. autoimmune thrombocytopenic purpura A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies. sn:IEDB Autoimmune thrombocytopenic purpura SNOMEDCT_2005_07_31:13172003 Immune thrombocytopenic purpura (disorder) SNOMEDCT_2005_07_31:234490009 Ideopath thrombocytopenic pur SNOMEDCT_2005_07_31:154825008 Idiopathic purpura SNOMEDCT_2005_07_31:191315003 DOID:8945 ICD10CM:D69.4 ICD10CM:D69.49 ICD9CM:287.39 SNOMEDCT_US_2016_03_01:191435001 UMLS_CUI:C0477317 disease_ontology DOID:8925 primary thrombocytopenia A specific developmental disorder that involves difficulty in scholastic skills such as reading, writing, spelling, reasoning, recalling and/or organizing information resulting from the brain's inability to receive and process information. DOID:2847 ICD10CM:F81.9 MESH:D007859 NCI:C89334 SNOMEDCT_US_2016_03_01:154973004 SNOMEDCT_US_2016_03_01:154974005 SNOMEDCT_US_2016_03_01:1855002 SNOMEDCT_US_2016_03_01:192531005 SNOMEDCT_US_2016_03_01:247576004 SNOMEDCT_US_2016_03_01:367332004 SNOMEDCT_US_2016_03_01:389991004 UMLS_CUI:C0023186 UMLS_CUI:C0751265 Academic skill disorder learning disorder disease_ontology DOID:8927 learning disability A specific developmental disorder that involves difficulty in scholastic skills such as reading, writing, spelling, reasoning, recalling and/or organizing information resulting from the brain's inability to receive and process information. url:http://en.wikipedia.org/wiki/Learning_disability url:http://www.ldonline.org/ldbasics/whatisld Academic skill disorder SNOMEDCT_2005_07_31:1855002 learning disorder CSP2005:2483-6402 disease_ontology DOID:8928 lymphosarcoma involving lymph nodes of head, face, and neck true DOID:9048 DOID:9083 ICD10CM:K29.4 ICD9CM:535.1 ICD9CM:535.11 MESH:D005757 NCI:C7405 SNOMEDCT_US_2016_03_01:155713006 SNOMEDCT_US_2016_03_01:196733008 SNOMEDCT_US_2016_03_01:270533009 SNOMEDCT_US_2016_03_01:84568007 UMLS_CUI:C0017154 UMLS_CUI:C0156073 gastric atrophy disease_ontology DOID:8929 atrophic gastritis gastric atrophy NCI2004_11_17:C7405 ICD10CM:E83.01 MESH:D006527 NCI:C84756 OMIM:277900 SNOMEDCT_US_2016_03_01:154751003 SNOMEDCT_US_2016_03_01:190823004 SNOMEDCT_US_2016_03_01:191710006 SNOMEDCT_US_2016_03_01:192640001 SNOMEDCT_US_2016_03_01:267504005 SNOMEDCT_US_2016_03_01:88518009 UMLS_CUI:C0019202 Cerebral pseudosclerosis Westphal pseudosclerosis Westphal-Strumpell syndrome Wilson's disease hepatolenticular degeneration disease_ontology DOID:893 OMIM mapping confirmed by DO. [SN]. Wilson disease Cerebral pseudosclerosis SNOMEDCT_2005_07_31:192640001 Westphal pseudosclerosis CSP2005:1849-4349 Westphal-Strumpell syndrome SNOMEDCT_2005_07_31:190823004 Wilson's disease SNOMEDCT_2005_07_31:267504005 ICD10CM:C06.2 ICD9CM:145.6 SNOMEDCT_US_2016_03_01:363391009 SNOMEDCT_US_2016_03_01:93989001 UMLS_CUI:C0153379 malignant tumor of retromolar area (disorder) disease_ontology DOID:8930 retromolar area cancer malignant tumor of retromolar area (disorder) SNOMEDCT_2005_07_31:363391009 ICD10CM:D69.41 ICD9CM:287.32 MESH:C536380 NCI:C61284 SNOMEDCT_US_2016_03_01:191315003 SNOMEDCT_US_2016_03_01:75331009 UMLS_CUI:C0272126 disease_ontology DOID:8931 Evans' syndrome An ophthalmic herpes zoster that results_in inflammation located_in iris and located_in ciliary body, has_material_basis_in Human herpesvirus 3,which reactivates from the trigeminal ganglion after the primary infection and has_symptom photophobia, has_symptom redness, has_symptom lacrimation, and blurres vision. Herpes zoster iridocyclitis (disorder) disease_ontology DOID:8932 herpes zoster iridocyclitis true An ophthalmic herpes zoster that results_in inflammation located_in iris and located_in ciliary body, has_material_basis_in Human herpesvirus 3,which reactivates from the trigeminal ganglion after the primary infection and has_symptom photophobia, has_symptom redness, has_symptom lacrimation, and blurres vision. url:http://archopht.ama-assn.org/cgi/reprint/62/4/579.pdf url:http://books.google.com/books?id=G6k0tpPMRsIC&pg=PA799&lpg#v=onepage&q&f=false Herpes zoster iridocyclitis (disorder) SNOMEDCT_2005_07_31:10698009 ICD10CM:M72.2 ICD9CM:728.71 MESH:C537000 NCI:C4680 SNOMEDCT_US_2016_03_01:13370002 SNOMEDCT_US_2016_03_01:202882003 SNOMEDCT_US_2016_03_01:240032001 UMLS_CUI:C0158360 Dupuytren's contracture of foot (disorder) Ledderhose's disease Plantar fascial fibromatosis (disorder) disease_ontology DOID:8936 plantar fascial fibromatosis Dupuytren's contracture of foot (disorder) SNOMEDCT_2005_07_31:240032001 Ledderhose's disease NCI2004_11_17:C4680 Plantar fascial fibromatosis (disorder) SNOMEDCT_2005_07_31:13370002 ICD10CM:C14.2 ICD9CM:149.1 SNOMEDCT_US_2016_03_01:187716008 SNOMEDCT_US_2016_03_01:94144008 UMLS_CUI:C0153406 Waldeyer ring cancer malignant neoplasm of Waldeyer's ring malignant tumor of Waldeyer's ring (disorder) disease_ontology DOID:8937 Waldeyer's ring cancer malignant neoplasm of Waldeyer's ring SNOMEDCT_2005_07_31:94144008 malignant tumor of Waldeyer's ring (disorder) SNOMEDCT_2005_07_31:187716008 Reticulosarcoma of intrathoracic lymph nodes Reticulosarcoma of intrathoracic lymph nodes (disorder) disease_ontology DOID:8938 reticulosarcoma involving intrathoracic lymph nodes true Reticulosarcoma of intrathoracic lymph nodes SNOMEDCT_2005_07_31:188490002 Reticulosarcoma of intrathoracic lymph nodes (disorder) SNOMEDCT_2005_07_31:95226002 Hodgkin's disease, nodular sclerosis of lymph nodes of axilla and upper limb (disorder) Hodgkin's disease, nodular sclerosis of lymph nodes of axilla and/or upper limb (disorder) disease_ontology Hodgkin's disease, nodular sclerosis, involving lymph nodes of axilla and upper limb DOID:8939 Hodgkin's lymphoma, nodular sclerosis, involving lymph nodes of axilla and upper limb true Hodgkin's disease, nodular sclerosis of lymph nodes of axilla and upper limb (disorder) SNOMEDCT_2005_07_31:188568000 Hodgkin's disease, nodular sclerosis of lymph nodes of axilla and/or upper limb (disorder) SNOMEDCT_2005_07_31:93514006 disease_ontology DOID:894 nervous system heredodegenerative disease true A seborrheic dermatitis that involves fungal infection of the scalp of recently born babies caused by Malassezia furfur. It is occasionally linked to immune disorders. The symptoms include thick, crusty, yellow or brown scales over the child's scalp. DOID:8823 ICD10CM:L21.0 ICD9CM:690.11 MESH:D063807 SNOMEDCT_US_2016_03_01:156327009 SNOMEDCT_US_2016_03_01:156329007 SNOMEDCT_US_2016_03_01:200763009 SNOMEDCT_US_2016_03_01:200764003 SNOMEDCT_US_2016_03_01:201177005 SNOMEDCT_US_2016_03_01:28431005 SNOMEDCT_US_2016_03_01:400201008 SNOMEDCT_US_2016_03_01:48596006 SNOMEDCT_US_2016_03_01:77592001 UMLS_CUI:C0221244 Complement 5 dysfunction Generalized seborrheic dermatitis of infants Infantile seborrheic dermatitis Infantile seborrheic dermatitis NOS (disorder) Infantile seborrhoeic dermatitis Pityriasis capitis Seborrhea capitis Seborrhea sicca Seborrhoea capitis Seborrhoeic dermatitis of scalp Seborrhoeic eczema of scalp cradle cap seborrhea capitis disease_ontology DOID:8941 seborrheic infantile dermatitis A seborrheic dermatitis that involves fungal infection of the scalp of recently born babies caused by Malassezia furfur. It is occasionally linked to immune disorders. The symptoms include thick, crusty, yellow or brown scales over the child's scalp. url:http://en.wikipedia.org/wiki/Cradle_cap url:http://www.nlm.nih.gov/medlineplus/ency/article/000963.htm Complement 5 dysfunction SNOMEDCT_2005_07_31:234610001 Generalized seborrheic dermatitis of infants SNOMEDCT_2005_07_31:7297005 Infantile seborrheic dermatitis SNOMEDCT_2005_07_31:200776003 Infantile seborrheic dermatitis NOS (disorder) SNOMEDCT_2005_07_31:200777007 Infantile seborrhoeic dermatitis SNOMEDCT_2005_07_31:156336008 Pityriasis capitis SNOMEDCT_2005_07_31:400201008 Seborrhea capitis SNOMEDCT_2005_07_31:28431005 Seborrhea sicca SNOMEDCT_2005_07_31:77592001 Seborrhoea capitis SNOMEDCT_2005_07_31:201177005 Seborrhoeic dermatitis of scalp SNOMEDCT_2005_07_31:156327009 SNOMEDCT_2005_07_31:200763009 Seborrhoeic eczema of scalp SNOMEDCT_2005_07_31:48596006 MESH:C537935 familial amyloid neuropathy, Finnish type disease_ontology DOID:8943 lattice corneal dystrophy familial amyloid neuropathy, Finnish type SNOMEDCT_2005_07_31:1192004 ICD9CM:362.06 SNOMEDCT_US_2016_03_01:312905005 SNOMEDCT_US_2016_03_01:390720006 SNOMEDCT_US_2016_03_01:391178000 UMLS_CUI:C0730278 High risk non proliferative diabetic retinopathy Severe NPDR disease_ontology DOID:8946 severe nonproliferative diabetic retinopathy High risk non proliferative diabetic retinopathy SNOMEDCT_2005_07_31:390720006 Severe NPDR SNOMEDCT_2005_07_31:312905005 ICD9CM:362.0 MESH:D003930 NCI:C34538 SNOMEDCT_US_2016_03_01:141196007 SNOMEDCT_US_2016_03_01:154678005 SNOMEDCT_US_2016_03_01:155107006 SNOMEDCT_US_2016_03_01:163997001 SNOMEDCT_US_2016_03_01:193353002 SNOMEDCT_US_2016_03_01:267471001 SNOMEDCT_US_2016_03_01:309595004 SNOMEDCT_US_2016_03_01:4855003 UMLS_CUI:C0011884 Retinal abnormality - diabetes-related disease_ontology DOID:8947 diabetic retinopathy Retinal abnormality - diabetes-related SNOMEDCT_2005_07_31:163997001 Copper disorder disorder of copper metabolism disorder of copper metabolism (disorder) disorder of copper metabolism NOS (disorder) disease_ontology DOID:895 copper metabolism disease true Copper disorder SNOMEDCT_2005_07_31:154751003 Copper disorder SNOMEDCT_2005_07_31:267504005 disorder of copper metabolism ICD9CM_2006:275.1 disorder of copper metabolism (disorder) SNOMEDCT_2005_07_31:79886009 disorder of copper metabolism NOS (disorder) SNOMEDCT_2005_07_31:190854000 An aplastic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes). ICD10CM:D64.3 ICD9CM:285.0 MESH:D000756 NCI:C36078 SNOMEDCT_US_2016_03_01:154810008 SNOMEDCT_US_2016_03_01:191263002 SNOMEDCT_US_2016_03_01:41841004 UMLS_CUI:C0002896 ANEMIA SIDEROBLASTIC Anemia, hypochromic with iron loading disease_ontology DOID:8955 sideroblastic anemia An aplastic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes). url:http://en.wikipedia.org/wiki/Sideroblastic_anemia ANEMIA SIDEROBLASTIC MTH:NOCODE Anemia, hypochromic with iron loading MTHICD9_2006:285.0 A viral infectious disease that results_in infection in rodents, cows, and humans, located_in skin, has_material_basis_in Cowpox virus, which is transmitted_by contact with an infected animal. The infection results_in_formation_of vesicopustular lesions on the hands or face. ICD10CM:B08.010 ICD9CM:051.01 MESH:D015605 SNOMEDCT_US_2016_03_01:154344005 SNOMEDCT_US_2016_03_01:266193008 SNOMEDCT_US_2016_03_01:70090004 UMLS_CUI:C0010232 yaba disease_ontology DOID:8956 cowpox A viral infectious disease that results_in infection in rodents, cows, and humans, located_in skin, has_material_basis_in Cowpox virus, which is transmitted_by contact with an infected animal. The infection results_in_formation_of vesicopustular lesions on the hands or face. url:http://emedicine.medscape.com/article/1131886-overview yaba CSP2005:3100-0734 disease_ontology DOID:8958 lymphosarcoma involving lymph nodes of axilla and upper limb true disease_ontology DOID:8959 Hodgkin's lymphoma, mixed cellularity, involving lymph nodes of inguinal region and lower limb true An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals. MESH:D008664 UMLS_CUI:C0025534 inborn metal metabolism disorder disease_ontology DOID:896 metal metabolism disorder An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals. url:http://en.wikipedia.org/wiki/Inborn_errors_of_metal_metabolism inborn metal metabolism disorder CSP2005:4000-0215 A Measles virus infectious disease that results_in inflammation located_in cornea and located_in conjunctiva, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom mucopurulent discharge from the eye, has_symptom pain in the eye, and has_symptom redness. disease_ontology DOID:8962 Measles virus keratoconjunctivitis true A Measles virus infectious disease that results_in inflammation located_in cornea and located_in conjunctiva, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom mucopurulent discharge from the eye, has_symptom pain in the eye, and has_symptom redness. url:http://books.google.com/books?id=0Qxnuj3MIUgC&pg=PA112&lpg=PA112&dq#v=onepage&q&f=false Hodgkin's sarcoma of spleen Hodgkin's sarcoma of spleen (disorder) disease_ontology DOID:8964 Hodgkin's sarcoma involving spleen true Hodgkin's sarcoma of spleen SNOMEDCT_2005_07_31:188550003 Hodgkin's sarcoma of spleen (disorder) SNOMEDCT_2005_07_31:93554008 ICD10CM:C09.0 ICD9CM:146.1 SNOMEDCT_US_2016_03_01:187680001 SNOMEDCT_US_2016_03_01:363394001 SNOMEDCT_US_2016_03_01:94102002 UMLS_CUI:C0153384 malignant neoplasm of tonsillar fossa NOS (disorder) malignant tumor of tonsillar fossa malignant tumor of tonsillar fossa (disorder) disease_ontology DOID:8969 tonsillar fossa cancer malignant neoplasm of tonsillar fossa NOS (disorder) SNOMEDCT_2005_07_31:187680001 malignant tumor of tonsillar fossa MTH:U001012 malignant tumor of tonsillar fossa (disorder) SNOMEDCT_2005_07_31:363394001 A viral infectious disease that results_in infection located_in brain, has_material_basis_in Measles virus which is immune resistant (which can be a result of a mutation of the virus itself). ICD10CM:A81.1 ICD9CM:046.2 MESH:D013344 NCI:C85171 OMIM:260470 SNOMEDCT_US_2016_03_01:186484007 SNOMEDCT_US_2016_03_01:192685000 SNOMEDCT_US_2016_03_01:359686005 SNOMEDCT_US_2016_03_01:416154000 SNOMEDCT_US_2016_03_01:84196008 UMLS_CUI:C0038522 Immunosuppressive measles encephalitis Subacute Sclerosing Panencephalitis Subacute sclerosing panencephalitis (disorder) Subacute sclerosing panencephalitis (disorder) [Ambiguous] Van Bogaert's sclerosing leukoencephalitis Van Bogaert's sclerosing leukoencephalitis (disorder) subacute sclerosing leukoencephalopathy disease_ontology DOID:8970 subacute sclerosing panencephalitis A viral infectious disease that results_in infection located_in brain, has_material_basis_in Measles virus which is immune resistant (which can be a result of a mutation of the virus itself). url:http://en.wikipedia.org/wiki/Subacute_sclerosing_panencephalitis Immunosuppressive measles encephalitis SNOMEDCT_2005_07_31:416154000 Subacute Sclerosing Panencephalitis MTH:NOCODE Subacute sclerosing panencephalitis (disorder) SNOMEDCT_2005_07_31:192685000 Subacute sclerosing panencephalitis (disorder) [Ambiguous] SNOMEDCT_2005_07_31:84196008 Van Bogaert's sclerosing leukoencephalitis MTHICD9_2006:046.2 Van Bogaert's sclerosing leukoencephalitis (disorder) SNOMEDCT_2005_07_31:359686005 subacute sclerosing leukoencephalopathy CSP2005:2042-2360 mixed cellularity Hodgkin's disease stage III disease_ontology Hodgkin's disease, mixed cellularity, involving lymph nodes of multiple sites DOID:8973 Hodgkin's lymphoma, mixed cellularity, involving lymph nodes of multiple sites true mixed cellularity Hodgkin's disease stage III NCI2004_11_17:C3582 Burkitt's lymphoma of lymph nodes of axilla and upper limb (disorder) disease_ontology DOID:8974 Burkitt's tumor or lymphoma involving lymph nodes of axilla and upper limb true Burkitt's lymphoma of lymph nodes of axilla and upper limb (disorder) SNOMEDCT_2005_07_31:188513004 Tuberculosis of peripheral lymph nodes (disorder) Tuberculosis of peripheral lymph nodes NOS (disorder) Tuberculosis of peripheral lymph nodes, unspecified examination tuberculosis of peripheral lymph nodes disease_ontology DOID:8976 peripheral lymph node tuberculosis true Tuberculosis of peripheral lymph nodes (disorder) SNOMEDCT_2005_07_31:77038006 Tuberculosis of peripheral lymph nodes NOS (disorder) SNOMEDCT_2005_07_31:186261003 Tuberculosis of peripheral lymph nodes, unspecified examination ICD9CM_2006:017.20 malignant histiocytosis involving lymph nodes of head, face and neck malignant histiocytosis of lymph nodes of head, face and neck (disorder) malignant histiocytosis of lymph nodes of head, face and/or neck (disorder) disease_ontology DOID:8977 malignant histiocytosis involving lymph nodes of head, face, and neck true malignant histiocytosis involving lymph nodes of head, face and neck MTHICD9_2006:202.31 malignant histiocytosis of lymph nodes of head, face and neck (disorder) SNOMEDCT_2005_07_31:188640007 malignant histiocytosis of lymph nodes of head, face and/or neck (disorder) SNOMEDCT_2005_07_31:93186009 Hodgkin's disease, nodular sclerosis of lymph nodes of inguinal region and lower limb (disorder) Hodgkin's disease, nodular sclerosis of lymph nodes of inguinal region and/or lower limb (disorder) disease_ontology Hodgkin's disease, nodular sclerosis, involving lymph nodes of inguinal region and lower limb DOID:8978 Hodgkin's lymphoma, nodular sclerosis, involving lymph nodes of inguinal region and lower limb true Hodgkin's disease, nodular sclerosis of lymph nodes of inguinal region and lower limb (disorder) SNOMEDCT_2005_07_31:188569008 Hodgkin's disease, nodular sclerosis of lymph nodes of inguinal region and/or lower limb (disorder) SNOMEDCT_2005_07_31:93516008 Hodgkin's disease, lymphocytic depletion of intrapelvic lymph nodes Hodgkin's disease, lymphocytic depletion of intrapelvic lymph nodes (disorder) disease_ontology Hodgkin's disease, lymphocytic depletion, involving intrapelvic lymph nodes DOID:8979 Hodgkin's lymphoma, lymphocytic depletion, involving intrapelvic lymph nodes true Hodgkin's disease, lymphocytic depletion of intrapelvic lymph nodes SNOMEDCT_2005_07_31:93485001 Hodgkin's disease, lymphocytic depletion of intrapelvic lymph nodes (disorder) SNOMEDCT_2005_07_31:188591001 An autosomal dominant disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium. ICD10CM:Q61.3 ICD9CM:753.12 MESH:D007690 NCI:C75464 OMIM:PS173900 ORDO:730 SNOMEDCT_US_2016_03_01:156973002 SNOMEDCT_US_2016_03_01:204954005 SNOMEDCT_US_2016_03_01:204955006 SNOMEDCT_US_2016_03_01:204956007 SNOMEDCT_US_2016_03_01:268233005 SNOMEDCT_US_2016_03_01:268332003 SNOMEDCT_US_2016_03_01:82525005 UMLS_CUI:C0022680 Congenital biliary ectasias POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 disease_ontology DOID:898 Xref MGI. OMIM mapping confirmed by DO. [SN]. Updating outdated UMLS CUI. Removing Caroli disease as a synonym as this is a distinct disease. autosomal dominant polycystic kidney disease An autosomal dominant disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium. url:en.wikipedia.org/wiki/Ciliopathy#cite_note-davenport2008-4 url:kidney.niddk.nih.gov/kudiseases/pubs/polycystic Congenital biliary ectasias SNOMEDCT_2005_07_31:111331000 Hodgkin's disease, lymphocytic-histiocytic predominance of spleen (disorder) Hodgkin's, lymphocytic-histiocytic predominance of spleen (disorder) disease_ontology Hodgkin's disease, lymphocytic-histiocytic predominance involving spleen DOID:8980 Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving spleen true Hodgkin's disease, lymphocytic-histiocytic predominance of spleen (disorder) SNOMEDCT_2005_07_31:93500006 Hodgkin's, lymphocytic-histiocytic predominance of spleen (disorder) SNOMEDCT_2005_07_31:188561006 A sleep disorder that involves an excessive urge to sleep at inappropriate times, such as while at work. DOID:8985 EFO:0000614 ICD10CM:G47.41 ICD10CM:G47.419 ICD9CM:347.0 MESH:D009290 NCI:C84489 OMIM:161400 OMIM:605841 OMIM:609039 OMIM:612417 OMIM:612851 OMIM:614223 OMIM:614250 ORDO:2073 SNOMEDCT_US_2016_03_01:155059003 SNOMEDCT_US_2016_03_01:267702006 SNOMEDCT_US_2016_03_01:60380001 UMLS_CUI:C0027404 Narcolepsy, without cataplexy paroxysmal sleep disease_ontology DOID:8986 Xref MGI. narcolepsy A sleep disorder that involves an excessive urge to sleep at inappropriate times, such as while at work. url:http://en.wikipedia.org/wiki/Narcolepsy paroxysmal sleep CSP2005:2056-7716 ICD10CM:Q44.4 MESH:D015529 NCI:C2943 SNOMEDCT_US_2016_03_01:30533003 SNOMEDCT_US_2016_03_01:397868007 SNOMEDCT_US_2016_03_01:398197009 SNOMEDCT_US_2016_03_01:440471007 UMLS_CUI:C0008340 Congenital choledochal cyst Congenital choledochal cyst (disorder) disease_ontology DOID:899 choledochal cyst Congenital choledochal cyst MTHICD9_2006:751.69 Congenital choledochal cyst (disorder) SNOMEDCT_2005_07_31:30533003 Congenital choledochal cyst (disorder) SNOMEDCT_2005_07_31:398197009 Hodgkin's granuloma of lymph nodes of multiple sites (disorder) disease_ontology DOID:8990 Hodgkin's granuloma involving lymph nodes of multiple sites true Hodgkin's granuloma of lymph nodes of multiple sites (disorder) SNOMEDCT_2005_07_31:188541000 Hodgkin's granuloma of lymph nodes of multiple sites (disorder) SNOMEDCT_2005_07_31:93535008 ICD10CM:D06 ICD10CM:D06.9 ICD9CM:233.1 MESH:D018290 NCI:C4000 SNOMEDCT_US_2016_03_01:145597000 SNOMEDCT_US_2016_03_01:154637008 SNOMEDCT_US_2016_03_01:168405008 SNOMEDCT_US_2016_03_01:189339007 SNOMEDCT_US_2016_03_01:20365006 SNOMEDCT_US_2016_03_01:22725004 SNOMEDCT_US_2016_03_01:252990005 SNOMEDCT_US_2016_03_01:252991009 SNOMEDCT_US_2016_03_01:254889004 SNOMEDCT_US_2016_03_01:269491003 SNOMEDCT_US_2016_03_01:269649008 SNOMEDCT_US_2016_03_01:92564006 UMLS_CUI:C0851140 CIN III CIN III - carcinoma in situ of cervix CIN III - severe dyskaryosis Cervix Ca in situ Severe Dysplasia of the Cervix Uteri Severe dysplasia of cervix carcinoma in situ of cervix carcinoma in situ of uterine cervix carcinoma of cervix stage 0 (disorder) cervical intraepithelial neoplasia grade III with severe dysplasia squamous intraepithelial neoplasia, grade III disease_ontology DOID:8991 cervix uteri carcinoma in situ CIN III SNOMEDCT_2005_07_31:22725004 CIN III - carcinoma in situ of cervix SNOMEDCT_2005_07_31:189339007 CIN III - severe dyskaryosis SNOMEDCT_2005_07_31:168405008 Cervix Ca in situ SNOMEDCT_2005_07_31:154637008 Severe Dysplasia of the Cervix Uteri NCI2004_11_17:C4000 Severe dysplasia of cervix MTHICD9_2006:233.1 carcinoma in situ of cervix SNOMEDCT_2005_07_31:269491003 carcinoma in situ of uterine cervix MTH:NOCODE carcinoma of cervix stage 0 (disorder) SNOMEDCT_2005_07_31:254889004 cervical intraepithelial neoplasia grade III with severe dysplasia SNOMEDCT_2005_07_31:252991009 squamous intraepithelial neoplasia, grade III SNOMEDCT_2005_07_31:20365006 Hodgkin's granuloma of lymph nodes of inguinal region and lower limb (disorder) Hodgkin's granuloma of lymph nodes of inguinal region and/or lower limb (disorder) disease_ontology DOID:8992 Hodgkin's granuloma involving lymph nodes of inguinal region and lower limb true Hodgkin's granuloma of lymph nodes of inguinal region and lower limb (disorder) SNOMEDCT_2005_07_31:188538009 Hodgkin's granuloma of lymph nodes of inguinal region and/or lower limb (disorder) SNOMEDCT_2005_07_31:93534007 Hodgkin's sarcoma involving lymph nodes of head, face and neck Hodgkin's sarcoma of lymph nodes of head, face and neck (disorder) Hodgkin's sarcoma of lymph nodes of head, face and/or neck (disorder) disease_ontology DOID:8994 Hodgkin's sarcoma involving lymph nodes of head, face, and neck true Hodgkin's sarcoma involving lymph nodes of head, face and neck MTHICD9_2006:201.21 Hodgkin's sarcoma of lymph nodes of head, face and neck (disorder) SNOMEDCT_2005_07_31:188544008 Hodgkin's sarcoma of lymph nodes of head, face and/or neck (disorder) SNOMEDCT_2005_07_31:93551000 disease_ontology DOID:8995 malignant histiocytosis involving intra-abdominal lymph nodes true ICD10CM:D45 ICD9CM:238.4 MESH:D011087 NCI:C3336 OMIM:263300 SNOMEDCT_US_2016_03_01:109992005 SNOMEDCT_US_2016_03_01:128841001 SNOMEDCT_US_2016_03_01:134182002 SNOMEDCT_US_2016_03_01:154644004 SNOMEDCT_US_2016_03_01:269652000 SNOMEDCT_US_2016_03_01:278190000 SNOMEDCT_US_2016_03_01:31569001 UMLS_CUI:C0032463 Osler-Vaquez syndrome Polycythaemia rubra vera Proliferative polycythaemia disease_ontology DOID:8997 OMIM mapping confirmed by DO. [SN]. polycythemia vera Osler-Vaquez syndrome SNOMEDCT_2005_07_31:109992005 Polycythaemia rubra vera SNOMEDCT_2005_07_31:154644004 Proliferative polycythaemia SNOMEDCT_2005_07_31:128841001 A bone deterioration disease that has_material_basis_in gradual dehydration and tears located_in intervertebral disc. DOID:7943 EFO:0004994 NCI:C27156 SNOMEDCT_US_2016_03_01:156633005 UMLS_CUI:C0410606 cervical disc degenerative disease intervertebral disc degeneration lumbar disc degeneration vertebral disc disease disease_ontology DOID:90 degenerative disc disease A bone deterioration disease that has_material_basis_in gradual dehydration and tears located_in intervertebral disc. url:http://en.wikipedia.org/wiki/Degenerative_disc_disease url:http://www.cedars-sinai.edu/Patients/Health-Conditions/Degenerative-Disc-Disease.aspx url:http://www.medicinenet.com/degenerative_disc/article.htm url:http://www.spine-health.com/conditions/degenerative-disc-disease/what-degenerative-disc-disease cervical disc degenerative disease NCI2004_11_17:C27156 ICD10CM:K76.81 ICD9CM:573.5 MESH:D020065 SNOMEDCT_US_2016_03_01:371067004 UMLS_CUI:C0600452 Hepatopulmonary syndrome (disorder) disease_ontology DOID:900 hepatopulmonary syndrome Hepatopulmonary syndrome (disorder) SNOMEDCT_2005_07_31:371067004 Hodgkin's disease, nodular sclerosis of spleen Hodgkin's disease, nodular sclerosis of spleen (disorder) disease_ontology Hodgkin's disease, nodular sclerosis, involving spleen DOID:9001 Hodgkin's lymphoma, nodular sclerosis, involving spleen true Hodgkin's disease, nodular sclerosis of spleen SNOMEDCT_2005_07_31:188571008 Hodgkin's disease, nodular sclerosis of spleen (disorder) SNOMEDCT_2005_07_31:93518009 A syndrome that is characterized by the sudden death of an infant that is not predicted by medical history and remains unexplained after a thorough forensic autopsy and detailed death scene investigation. ICD9CM:798.0 MESH:D013398 NCI:C85173 OMIM:272120 SNOMEDCT_US_2016_03_01:158718001 SNOMEDCT_US_2016_03_01:207534005 SNOMEDCT_US_2016_03_01:207535006 SNOMEDCT_US_2016_03_01:207536007 SNOMEDCT_US_2016_03_01:207538008 SNOMEDCT_US_2016_03_01:207671002 SNOMEDCT_US_2016_03_01:51178009 UMLS_CUI:C0038644 Cot death Cot death (context-dependent category) Crib death (context-dependent category) SIDS Sudden death of nonspecific cause in infancy Sudden infant death syndrome (context-dependent category) Sudden infant death syndrome (finding) Sudden infant death syndrome NOS (context-dependent category) disease_ontology DOID:9007 sudden infant death syndrome A syndrome that is characterized by the sudden death of an infant that is not predicted by medical history and remains unexplained after a thorough forensic autopsy and detailed death scene investigation. url:http://en.wikipedia.org/wiki/Sudden_infant_death_syndrome url:http://omim.org/entry/272120 url:http://www.nlm.nih.gov/medlineplus/suddeninfantdeathsyndrome.html Cot death SNOMEDCT_2005_07_31:158718001 Cot death SNOMEDCT_2005_07_31:207671002 Cot death (context-dependent category) SNOMEDCT_2005_07_31:207535006 Crib death (context-dependent category) SNOMEDCT_2005_07_31:207536007 SIDS CSP2005:0635-4620 Sudden death of nonspecific cause in infancy MTHICD9_2006:798.0 Sudden infant death syndrome (context-dependent category) SNOMEDCT_2005_07_31:207534005 Sudden infant death syndrome (finding) SNOMEDCT_2005_07_31:51178009 Sudden infant death syndrome NOS (context-dependent category) SNOMEDCT_2005_07_31:207538008 A syndrome that occurs in humans with psoriasis who also experience symptoms similar to arthritis. EFO:0003778 ICD10CM:L40.5 ICD10CM:L40.50 ICD9CM:696.0 MESH:D015535 NCI:C61277 SNOMEDCT_US_2016_03_01:156370009 SNOMEDCT_US_2016_03_01:200959009 SNOMEDCT_US_2016_03_01:33339001 UMLS_CUI:C0003872 arthritis psoriatica arthropathic psoriasis disease_ontology psoriatic arthropathy DOID:9008 psoriatic arthritis A syndrome that occurs in humans with psoriasis who also experience symptoms similar to arthritis. url:http://en.wikipedia.org/wiki/Psoriatic_arthropathy url:http://psoriasis.org/netcommunity/psoriatic_arthritis url:http://www.mayoclinic.com/health/psoriatic-arthritis/DS00476 url:http://www.medicinenet.com/psoriatic_arthritis/article.htm url:http://www.nlm.nih.gov/medlineplus/ency/article/000413.htm NCI:C4949 UMLS_CUI:C1112746 Lymphoma of Liver disease_ontology DOID:901 liver lymphoma Lymphoma of Liver NCI2004_11_17:C4949 Burkitt's lymphoma of lymph nodes of multiple sites (disorder) disease_ontology DOID:9010 Burkitt's tumor or lymphoma involving lymph nodes of multiple sites true Burkitt's lymphoma of lymph nodes of multiple sites (disorder) SNOMEDCT_2005_07_31:188517003 ICD10CM:D02.0 ICD9CM:231.0 NCI:C9100 SNOMEDCT_US_2016_03_01:189261004 SNOMEDCT_US_2016_03_01:92634009 UMLS_CUI:C0154069 carcinoma in situ of larynx stage 0 carcinoma of the Larynx disease_ontology DOID:9011 larynx carcinoma in situ carcinoma in situ of larynx SNOMEDCT_2005_07_31:92634009 stage 0 carcinoma of the Larynx NCI2004_11_17:C9100 Sezary's disease of lymph nodes of axilla and upper limb (disorder) Szary's disease of lymph nodes of axilla and/or upper limb (disorder) disease_ontology DOID:9017 Sezary's disease involving lymph nodes of axilla and upper limb true Sezary's disease of lymph nodes of axilla and upper limb (disorder) SNOMEDCT_2005_07_31:188633006 Szary's disease of lymph nodes of axilla and/or upper limb (disorder) SNOMEDCT_2005_07_31:95259004 Mycosis fungoides of spleen Mycosis fungoides of spleen (disorder) disease_ontology DOID:9019 Mycosis fungoides involving spleen true Mycosis fungoides of spleen SNOMEDCT_2005_07_31:188626006 Mycosis fungoides of spleen (disorder) SNOMEDCT_2005_07_31:94714002 disease_ontology DOID:902 malignant non-epithelial hepatic and intrahepatic bile duct neoplasm true Reticulosarcoma Involving Spleen Reticulosarcoma of spleen Reticulosarcoma of spleen (disorder) disease_ontology DOID:9020 reticulosarcoma involving spleen true Reticulosarcoma Involving Spleen NCI2004_11_17:C26959 Reticulosarcoma of spleen SNOMEDCT_2005_07_31:188495007 Reticulosarcoma of spleen (disorder) SNOMEDCT_2005_07_31:95231000 ICD9CM:530.83 NCI:C3953 SNOMEDCT_US_2016_03_01:89057003 UMLS_CUI:C0267095 Leukoplakia of esophagus disease_ontology DOID:9021 esophageal leukoplakia Leukoplakia of esophagus SNOMEDCT_2005_07_31:89057003 ICD10CM:D01.4 ICD9CM:230.7 SNOMEDCT_US_2016_03_01:190172008 UMLS_CUI:C0154065 disease_ontology DOID:9024 intestine carcinoma in situ Hodgkin's disease, nodular sclerosis of intra-abdominal lymph nodes Hodgkin's disease, nodular sclerosis of intra-abdominal lymph nodes (disorder) disease_ontology Hodgkin's disease, nodular sclerosis, involving intra-abdominal lymph nodes DOID:9025 Hodgkin's lymphoma, nodular sclerosis, involving intra-abdominal lymph nodes true Hodgkin's disease, nodular sclerosis of intra-abdominal lymph nodes SNOMEDCT_2005_07_31:93511003 Hodgkin's disease, nodular sclerosis of intra-abdominal lymph nodes (disorder) SNOMEDCT_2005_07_31:188567005 NCI:C38162 SNOMEDCT_US_2016_03_01:449072004 UMLS_CUI:C0740372 disease_ontology DOID:903 gastrointestinal lymphoma Hodgkin's sarcoma of lymph nodes of axilla and upper limb (disorder) Hodgkin's sarcoma of lymph nodes of axilla and/or upper limb (disorder) disease_ontology DOID:9033 Hodgkin's sarcoma involving lymph nodes of axilla and upper limb true Hodgkin's sarcoma of lymph nodes of axilla and upper limb (disorder) SNOMEDCT_2005_07_31:188547001 Hodgkin's sarcoma of lymph nodes of axilla and/or upper limb (disorder) SNOMEDCT_2005_07_31:93550004 A salivary gland cancer that is located_in the parotid gland. ICD10CM:C07 ICD9CM:142.0 MESH:D010307 NCI:C3525 SNOMEDCT_US_2016_03_01:363379000 SNOMEDCT_US_2016_03_01:93949007 UMLS_CUI:C0747273 cancer of parotid gland malignant neoplasm of the Parotid malignant tumor of parotid gland (disorder) parotid cancer disease_ontology DOID:9036 parotid gland cancer A salivary gland cancer that is located_in the parotid gland. url:http://en.wikipedia.org/wiki/Parotid_gland cancer of parotid gland SNOMEDCT_2005_07_31:93949007 malignant neoplasm of the Parotid NCI2004_11_17:C3525 malignant tumor of parotid gland (disorder) SNOMEDCT_2005_07_31:363379000 Burkitt's lymphoma of lymph nodes of inguinal region and lower limb (disorder) disease_ontology DOID:9037 Burkitt's tumor or lymphoma involving lymph nodes of inguinal region and lower limb true Burkitt's lymphoma of lymph nodes of inguinal region and lower limb (disorder) SNOMEDCT_2005_07_31:188514005 Hodgkin's paragranuloma involving lymph nodes of head, face and neck Hodgkin's paragranuloma of lymph nodes of head, face and/or neck (disorder) Hodgkin's paragranuloma of lymph nodes of head, face, and neck (disorder) disease_ontology DOID:9039 Hodgkin's paragranuloma involving lymph nodes of head, face, and neck true Hodgkin's paragranuloma involving lymph nodes of head, face and neck MTHICD9_2006:201.01 Hodgkin's paragranuloma of lymph nodes of head, face and/or neck (disorder) SNOMEDCT_2005_07_31:93542008 Hodgkin's paragranuloma of lymph nodes of head, face, and neck (disorder) SNOMEDCT_2005_07_31:188523008 Reticulosarcoma involving lymph nodes of head, face and neck Reticulosarcoma of lymph nodes of head, face and neck (disorder) Reticulosarcoma of lymph nodes of head, face, and neck (disorder) disease_ontology DOID:9040 reticulosarcoma involving lymph nodes of head, face, and neck true Reticulosarcoma involving lymph nodes of head, face and neck MTHICD9_2006:200.01 Reticulosarcoma of lymph nodes of head, face and neck (disorder) SNOMEDCT_2005_07_31:188489006 Reticulosarcoma of lymph nodes of head, face, and neck (disorder) SNOMEDCT_2005_07_31:95228001 Hodgkin's disease, mixed cellularity of lymph nodes of axilla and upper limb (disorder) Hodgkin's disease, mixed cellularity of lymph nodes of axilla and/or upper limb (disorder) disease_ontology Hodgkin's disease, mixed cellularity, involving lymph nodes of axilla and upper limb DOID:9041 Hodgkin's lymphoma, mixed cellularity, involving lymph nodes of axilla and upper limb true Hodgkin's disease, mixed cellularity of lymph nodes of axilla and upper limb (disorder) SNOMEDCT_2005_07_31:188578002 Hodgkin's disease, mixed cellularity of lymph nodes of axilla and/or upper limb (disorder) SNOMEDCT_2005_07_31:93505001 ICD10CM:N84.0 ICD9CM:621.0 NCI:C3662 SNOMEDCT_US_2016_03_01:11314008 SNOMEDCT_US_2016_03_01:266659005 UMLS_CUI:C0156369 endometrial/uterine polyp polyp of Endometrium polyp of corpus uteri polyp of the Uterus polyp, uterus disease_ontology DOID:9042 polyp of corpus uteri endometrial/uterine polyp SNOMEDCT_2005_07_31:266659005 polyp of Endometrium NCI2004_11_17:C6433 polyp of corpus uteri SNOMEDCT_2005_07_31:11314008 polyp of the Uterus NCI2004_11_17:C3662 polyp, uterus MTHICD9_2006:621.0 ICD10CM:N88.0 ICD9CM:622.2 NCI:C3976 SNOMEDCT_US_2016_03_01:50923006 UMLS_CUI:C0269194 Leukoplakia of cervix (uteri) Leukoplakia of cervix uteri Leukoplakia of the uterine Cervix disease_ontology DOID:9043 uterine cervix leukoplakia Leukoplakia of cervix uteri MTHICD9_2006:622.2 Leukoplakia of the uterine Cervix NCI2004_11_17:C3976 nodular lymphoma of lymph nodes of multiple sites nodular lymphoma of lymph nodes of multiple sites (disorder) disease_ontology DOID:9046 nodular lymphoma involving lymph nodes of multiple sites true nodular lymphoma of lymph nodes of multiple sites SNOMEDCT_2005_07_31:188616004 nodular lymphoma of lymph nodes of multiple sites (disorder) SNOMEDCT_2005_07_31:95192000 A peroxisomal disease that is characterized by the reduction or absence of functional peroxisomes in the cells of an individual that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes. ICD10CM:E71.510 MESH:D015211 NCI:C85239 OMIM:214100 ORDO:912 SNOMEDCT_US_2016_03_01:88469006 UMLS_CUI:C0043459 cerebrohepatorenal syndrome congenital iron overload peroxisome biogenesis disorder disease_ontology DOID:905 OMIM mapping confirmed by DO. [LS]. OMIM mapping confirmed by DO. [SN]. Zellweger syndrome A peroxisomal disease that is characterized by the reduction or absence of functional peroxisomes in the cells of an individual that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes. url:http://en.wikipedia.org/wiki/Zellweger_Syndrome url:http://www.ninds.nih.gov/disorders/zellweger/zellweger.htm url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=912 congenital iron overload CSP2005:1849-1804 A Simplexvirus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Human herpesvirus 2 and has_symptom headache, has_symptom fever, and has_symptom meningism. Herpes simplex meningitis (disorder) Mollaret's meningitis disease_ontology DOID:9051 Herpes simplex virus meningitis true A Simplexvirus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Human herpesvirus 2 and has_symptom headache, has_symptom fever, and has_symptom meningism. url:http://en.wikipedia.org/wiki/Herpes_simplex url:http://en.wikipedia.org/wiki/Mollaret%27s_meningitis url:http://www.springerlink.com/content/u62658410432568k/fulltext.pdf Herpes simplex meningitis (disorder) SNOMEDCT_2005_07_31:23291008 Hodgkin's disease, lymphocytic depletion of lymph nodes of axilla and upper limb (disorder) Hodgkin's disease, lymphocytic depletion of lymph nodes of axilla and/or upper limb (disorder) disease_ontology Hodgkin's disease, lymphocytic depletion, involving lymph nodes of axilla and upper limb DOID:9052 Hodgkin's lymphoma, lymphocytic depletion, involving lymph nodes of axilla and upper limb true Hodgkin's disease, lymphocytic depletion of lymph nodes of axilla and upper limb (disorder) SNOMEDCT_2005_07_31:188589009 Hodgkin's disease, lymphocytic depletion of lymph nodes of axilla and/or upper limb (disorder) SNOMEDCT_2005_07_31:93487009 ICD10CM:D09.0 ICD9CM:233.7 NCI:C3644 SNOMEDCT_US_2016_03_01:269650008 SNOMEDCT_US_2016_03_01:92546004 UMLS_CUI:C0154091 Flat CIS of the urinary bladder bladder Ca in situ carcinoma in situ of bladder disease_ontology DOID:9053 bladder carcinoma in situ Flat CIS of the urinary bladder NCI2004_11_17:C3644 bladder Ca in situ SNOMEDCT_2005_07_31:269650008 carcinoma in situ of bladder SNOMEDCT_2005_07_31:92546004 disease_ontology DOID:9054 lymphosarcoma involving intrathoracic lymph nodes true A Simplexvirus infectious disease that results_in inflammation located_in mucosa of mouth, has_material_basis_in Human herpesvirus 1, and has_symptom cold sores, has_symptom bad breath, and has_symptom fever. herpetic gingivostomatitis primary herpetic gingivostomatitis disease_ontology DOID:9059 Herpes simplex virus gingivostomatitis true A Simplexvirus infectious disease that results_in inflammation located_in mucosa of mouth, has_material_basis_in Human herpesvirus 1, and has_symptom cold sores, has_symptom bad breath, and has_symptom fever. url:http://www.nlm.nih.gov/medlineplus/ency/article/001052.htm primary herpetic gingivostomatitis SNOMEDCT_2005_07_31:57920007 An inherited metabolic disorder that involves peroxisome malfunction. ICD10CM:E71.5 ICD10CM:E71.50 ICD9CM:277.86 MESH:D018901 NCI:C85005 SNOMEDCT_US_2016_03_01:238059005 UMLS_CUI:C0282528 peroxisomal disorder disease_ontology DOID:906 peroxisomal disease An inherited metabolic disorder that involves peroxisome malfunction. url:http://en.wikipedia.org/wiki/Peroxisomal_disorder peroxisomal disorder ICD9CM_2006:277.86 A superficial mycosis that is a chronic, superficial fungal infection of the skin caused by Malassezia furfur, which is characterized by well-demarcated white, pink, fawn, or brownish lesions, often coalescing, and covered with thin furfuraceous scales. ICD10CM:B36.0 ICD9CM:111.0 MESH:D014010 NCI:C112833 NCI:C82981 SNOMEDCT_US_2016_03_01:154395007 SNOMEDCT_US_2016_03_01:56454009 UMLS_CUI:C0040262 Infection by Pityrosporum furfur Pityriasis versicolor (disorder) disease_ontology DOID:9060 pityriasis versicolor A superficial mycosis that is a chronic, superficial fungal infection of the skin caused by Malassezia furfur, which is characterized by well-demarcated white, pink, fawn, or brownish lesions, often coalescing, and covered with thin furfuraceous scales. url:http://mycology.adelaide.edu.au/Mycoses/Superficial/Malassezia_infections/ Infection by Pityrosporum furfur MTHICD9_2006:111.0 Pityriasis versicolor (disorder) SNOMEDCT_2005_07_31:56454009 disease_ontology DOID:9061 alcohol induced sleep disorder true A commensal bacterial infectious disease that is characterized by widespread erythema, peeling, and necrosis of the skin, that is caused by a toxin produced by a bacterium of the genus Staphylococcus (S. aureus). The infection has_symptoms redness of skin, has_symptom fluid-filled blister formation, has_symptom fever and has_symptom irritability. ICD10CM:L00 ICD9CM:695.81 MESH:D013206 NCI:C85077 SNOMEDCT_US_2016_03_01:200946001 SNOMEDCT_US_2016_03_01:367537006 SNOMEDCT_US_2016_03_01:87758007 UMLS_CUI:C0038165 Dermatitis exfoliativa neonatorum Pemphigus neonatorum Ritter disease Scalded skin syndrome Staphylococcal scalded skin syndrome (disorder) Toxic epidermal necrolysis, subcorneal type (disorder) disease_ontology DOID:9063 Ritter's disease A commensal bacterial infectious disease that is characterized by widespread erythema, peeling, and necrosis of the skin, that is caused by a toxin produced by a bacterium of the genus Staphylococcus (S. aureus). The infection has_symptoms redness of skin, has_symptom fluid-filled blister formation, has_symptom fever and has_symptom irritability. url:http://en.wikipedia.org/wiki/Ritter%27s_disease url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=staphylococcal+scalded+skin Dermatitis exfoliativa neonatorum MTHICD9_2006:695.81 Scalded skin syndrome MTHICD9_2006:695.1 Staphylococcal scalded skin syndrome (disorder) SNOMEDCT_2005_07_31:200946001 Toxic epidermal necrolysis, subcorneal type (disorder) SNOMEDCT_2005_07_31:367537006 disease_ontology Hodgkin's disease, lymphocytic-histiocytic predominance, extranodal and solid organ sites DOID:9064 Hodgkin's lymphoma, lymphocytic-histiocytic predominance, extranodal and solid organ sites true A parasitic protozoa infectious disease that involves infection caused by protozoan parasite of the genus Leishmania, which is transmitted by the bite of sand fly (subfamily Phlebotominae). DOID:9136 ICD10CM:B55 ICD10CM:B55.9 ICD9CM:085 ICD9CM:085.9 MESH:D007896 NCI:C34767 SNOMEDCT_US_2016_03_01:154377009 SNOMEDCT_US_2016_03_01:186811002 SNOMEDCT_US_2016_03_01:187511000 SNOMEDCT_US_2016_03_01:266206004 SNOMEDCT_US_2016_03_01:80612004 UMLS_CUI:C0023281 disease_ontology Post Kala-Azar Dermal Leishmaniasis Post-kala-azar dermal leishmaniasis post-kala-azar dermal infectious disease by leishmaniasis DOID:9065 leishmaniasis A parasitic protozoa infectious disease that involves infection caused by protozoan parasite of the genus Leishmania, which is transmitted by the bite of sand fly (subfamily Phlebotominae). url:http://www.cdc.gov/ncidod/dpd/parasites/leishmania/factsht_leishmania.htm Post Kala-Azar Dermal Leishmaniasis NCI2004_11_17:C34936 Post-kala-azar dermal leishmaniasis SNOMEDCT_2005_07_31:67896006 Hodgkin's paragranuloma of intrathoracic lymph nodes (disorder) disease_ontology DOID:9067 Hodgkin's paragranuloma involving intrathoracic lymph nodes true Hodgkin's paragranuloma of intrathoracic lymph nodes (disorder) SNOMEDCT_2005_07_31:188524002 Hodgkin's paragranuloma of intrathoracic lymph nodes (disorder) SNOMEDCT_2005_07_31:93540000 NCI:C5752 UMLS_CUI:C1333965 Fibroma of the Liver disease_ontology DOID:907 liver fibroma Fibroma of the Liver NCI2004_11_17:C5752 Colonic Inflammatory polyp Pseudopolyposis of colon (disorder) disease_ontology DOID:9070 pseudopolyposis of colon true Colonic Inflammatory polyp NCI2004_11_17:C5517 Pseudopolyposis of colon (disorder) SNOMEDCT_2005_07_31:13025001 malignant histiocytosis of spleen (disorder) disease_ontology DOID:9071 malignant histiocytosis involving spleen true malignant histiocytosis of spleen (disorder) SNOMEDCT_2005_07_31:93189002 ICD10CM:M31.2 ICD9CM:446.3 MESH:D006103 NCI:C8196 SNOMEDCT_US_2016_03_01:58961005 UMLS_CUI:C0018197 Midfacial Necrotising Lesion malignant granuloma of face disease_ontology DOID:9072 lethal midline granuloma Midfacial Necrotising Lesion NCI2004_11_17:C8196 malignant granuloma of face MTHICD9_2006:446.3 A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart. EFO:0002690 ICD10CM:M32 ICD10CM:M32.9 ICD9CM:710.0 KEGG:05322 MESH:D008180 NCI:C3201 OMIM:152700 OMIM:300809 OMIM:601744 OMIM:605218 OMIM:605480 OMIM:608437 OMIM:609903 OMIM:609939 OMIM:610065 OMIM:610066 OMIM:610927 OMIM:612251 OMIM:612253 OMIM:612254 OMIM:612378 OMIM:613145 OMIM:614420 ORDO:536 SNOMEDCT_US_2016_03_01:156450004 SNOMEDCT_US_2016_03_01:201435004 SNOMEDCT_US_2016_03_01:201439005 SNOMEDCT_US_2016_03_01:55464009 UMLS_CUI:C0024141 Lupus Erythematosus, systemic SLE - Lupus Erythematosus, systemic disseminated lupus erythematosus disease_ontology DOID:9074 Xref MGI. systemic lupus erythematosus A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart. ls:IEDB url:http://en.wikipedia.org/wiki/Systemic_lupus_erythematosus Lupus Erythematosus, systemic MTH:U002054 SLE - Lupus Erythematosus, systemic NCI2004_11_17:C3201 disseminated lupus erythematosus CSP2005:0729-7721 ICD10CM:H01.12 ICD9CM:373.34 SNOMEDCT_US_2016_03_01:79291003 UMLS_CUI:C0155180 disease_ontology DOID:9076 discoid lupus erythematosus of eyelid Hodgkin's paragranuloma of intrapelvic lymph nodes (disorder) disease_ontology DOID:9078 Hodgkin's paragranuloma involving intrapelvic lymph nodes true Hodgkin's paragranuloma of intrapelvic lymph nodes (disorder) SNOMEDCT_2005_07_31:188529007 Hodgkin's paragranuloma of intrapelvic lymph nodes (disorder) SNOMEDCT_2005_07_31:93539002 Hodgkin's paragranuloma of lymph nodes of multiple sites (disorder) disease_ontology DOID:9079 Hodgkin's paragranuloma involving lymph nodes of multiple sites true Hodgkin's paragranuloma of lymph nodes of multiple sites (disorder) SNOMEDCT_2005_07_31:188531003 Hodgkin's paragranuloma of lymph nodes of multiple sites (disorder) SNOMEDCT_2005_07_31:93544009 ICD10CM:C88.0 ICD9CM:273.3 MESH:D008258 NCI:C115212 NCI:C80307 SNOMEDCT_US_2016_03_01:109981009 SNOMEDCT_US_2016_03_01:154750002 SNOMEDCT_US_2016_03_01:190014001 SNOMEDCT_US_2016_03_01:190817009 SNOMEDCT_US_2016_03_01:190818004 SNOMEDCT_US_2016_03_01:190821002 SNOMEDCT_US_2016_03_01:267503004 SNOMEDCT_US_2016_03_01:35562000 UMLS_CUI:C0024419 UMLS_CUI:C2936755 primary macroglobulinemia disease_ontology DOID:9080 macroglobulinemia primary macroglobulinemia MTHICD9_2006:273.3 Mycosis fungoides of intrathoracic lymph nodes Mycosis fungoides of intrathoracic lymph nodes (disorder) disease_ontology DOID:9082 mycosis fungoides involving intrathoracic lymph nodes true Mycosis fungoides of intrathoracic lymph nodes SNOMEDCT_2005_07_31:188620000 Mycosis fungoides of intrathoracic lymph nodes (disorder) SNOMEDCT_2005_07_31:94709001 Hodgkin's disease, mixed cellularity of intra-abdominal lymph nodes Hodgkin's disease, mixed cellularity of intra-abdominal lymph nodes (disorder) disease_ontology Hodgkin's disease, mixed cellularity, involving intra-abdominal lymph nodes DOID:9084 Hodgkin's lymphoma, mixed cellularity, involving intra-abdominal lymph nodes true Hodgkin's disease, mixed cellularity of intra-abdominal lymph nodes SNOMEDCT_2005_07_31:93502003 Hodgkin's disease, mixed cellularity of intra-abdominal lymph nodes (disorder) SNOMEDCT_2005_07_31:188577007 ICD9CM:230.6 SNOMEDCT_US_2016_03_01:189233005 SNOMEDCT_US_2016_03_01:20365006 SNOMEDCT_US_2016_03_01:401311008 SNOMEDCT_US_2016_03_01:92537005 UMLS_CUI:C0154064 anal carcinoma stage 0 anal intraepithelial neoplasia grade III carcinoma in situ of anal canal carcinoma in situ of anus disease_ontology DOID:9087 anal carcinoma in situ anal carcinoma stage 0 NCI2004_11_17:C7794 anal intraepithelial neoplasia grade III SNOMEDCT_2005_07_31:401311008 carcinoma in situ of anal canal ICD9CM_2006:230.5 carcinoma in situ of anus SNOMEDCT_2005_07_31:92537005 ICD10CM:L41 ICD10CM:L41.9 ICD9CM:696.2 MESH:D010267 NCI:C3312 SNOMEDCT_US_2016_03_01:156371008 SNOMEDCT_US_2016_03_01:200979001 SNOMEDCT_US_2016_03_01:200980003 SNOMEDCT_US_2016_03_01:200991005 SNOMEDCT_US_2016_03_01:238592008 SNOMEDCT_US_2016_03_01:267851002 SNOMEDCT_US_2016_03_01:88233000 UMLS_CUI:C0030491 disease_ontology DOID:9088 parapsoriasis A sleep disorder that involves abnormal behavior including the acting out of violent or dramatic dreams during the sleep phase with rapid eye movement. ICD10CM:G47.52 ICD9CM:327.42 MESH:D020187 SNOMEDCT_US_2016_03_01:415238003 UMLS_CUI:C0751772 Rapid eye movement sleep behavior disorder disease_ontology DOID:9091 REM sleep behavior disorder A sleep disorder that involves abnormal behavior including the acting out of violent or dramatic dreams during the sleep phase with rapid eye movement. url:http://en.wikipedia.org/wiki/Rapid_eye_movement_behavior_disorder Hodgkin's sarcoma of intrathoracic lymph nodes Hodgkin's sarcoma of intrathoracic lymph nodes (disorder) disease_ontology DOID:9092 Hodgkin's sarcoma involving intrathoracic lymph nodes true Hodgkin's sarcoma of intrathoracic lymph nodes SNOMEDCT_2005_07_31:188545009 Hodgkin's sarcoma of intrathoracic lymph nodes (disorder) SNOMEDCT_2005_07_31:93549004 Hodgkin's paragranuloma of intra-abdominal lymph nodes (disorder) disease_ontology DOID:9093 Hodgkin's paragranuloma involving intra-abdominal lymph nodes true Hodgkin's paragranuloma of intra-abdominal lymph nodes (disorder) SNOMEDCT_2005_07_31:188526000 Hodgkin's paragranuloma of intra-abdominal lymph nodes (disorder) SNOMEDCT_2005_07_31:93538005 ICD10CM:D00.1 ICD9CM:230.1 NCI:C89771 SNOMEDCT_US_2016_03_01:189217007 SNOMEDCT_US_2016_03_01:308860001 SNOMEDCT_US_2016_03_01:92585006 UMLS_CUI:C0154059 Severe esophageal dysplasia carcinoma in situ of esophagus stage 0 carcinoma of the esophagus disease_ontology DOID:9095 esophagus carcinoma in situ Severe esophageal dysplasia SNOMEDCT_2005_07_31:308860001 carcinoma in situ of esophagus SNOMEDCT_2005_07_31:92585006 stage 0 carcinoma of the esophagus NCI2004_11_17:C3637 DOID:9215 ICD9CM:690 NCI:C34591 SNOMEDCT_US_2016_03_01:200762004 SNOMEDCT_US_2016_03_01:200768000 SNOMEDCT_US_2016_03_01:54792008 UMLS_CUI:C0014747 Erythematosquamous Dermatosis Erythematosquamous dermatosis (disorder) Erythematosquamous dermatosis NOS (disorder) Other erythematosquamous dermatosis disease_ontology DOID:9097 erythematosquamous dermatosis Erythematosquamous Dermatosis NCI2004_11_17:C34591 Erythematosquamous dermatosis (disorder) SNOMEDCT_2005_07_31:54792008 Erythematosquamous dermatosis NOS (disorder) SNOMEDCT_2005_07_31:200768000 A skin disease that is located_in the sebaceous gland. ICD10CM:L70.8 ICD9CM:706.1 SNOMEDCT_US_2016_03_01:201213005 SNOMEDCT_US_2016_03_01:201230007 SNOMEDCT_US_2016_03_01:201401002 UMLS_CUI:C0029485 disease_ontology DOID:9098 sebaceous gland disease A skin disease that is located_in the sebaceous gland. url:http://en.wikipedia.org/wiki/Sebaceous_gland#Clinical_significance url:http://www.ncbi.nlm.nih.gov/pubmed/18837699 DOID:909 ICD10CM:C71.4 ICD9CM:191.4 NCI:C5574 SNOMEDCT_US_2016_03_01:126957005 SNOMEDCT_US_2016_03_01:363470000 SNOMEDCT_US_2016_03_01:93928006 UMLS_CUI:C0153638 UMLS_CUI:C1263889 malignant neoplasm of occipital lobe malignant neoplasm of occipital lobe (disorder) neoplasm of occipital lobe (disorder) tumor of Occipital Lobe disease_ontology DOID:910 occipital lobe neoplasm malignant neoplasm of occipital lobe (disorder) SNOMEDCT_2005_07_31:363470000 neoplasm of occipital lobe (disorder) SNOMEDCT_2005_07_31:126957005 tumor of Occipital Lobe NCI2004_11_17:C5574 carcinoma in situ of other and unspecified male genital organs (disorder) disease_ontology DOID:9103 carcinoma in situ of male genital organs true carcinoma in situ of other and unspecified male genital organs (disorder) SNOMEDCT_2005_07_31:189348002 Mycosis fungoides of intrapelvic lymph nodes Mycosis fungoides of intrapelvic lymph nodes (disorder) disease_ontology DOID:9105 mycosis fungoides involving intrapelvic lymph nodes true Mycosis fungoides of intrapelvic lymph nodes SNOMEDCT_2005_07_31:188625005 Mycosis fungoides of intrapelvic lymph nodes (disorder) SNOMEDCT_2005_07_31:94708009 ICD9CM:233.2 SNOMEDCT_US_2016_03_01:189342001 SNOMEDCT_US_2016_03_01:269492005 UMLS_CUI:C0154086 disease_ontology DOID:9108 uterus carcinoma in situ Mycosis fungoides of intra-abdominal lymph nodes Mycosis fungoides of intra-abdominal lymph nodes (disorder) disease_ontology DOID:9109 mycosis fungoides involving intra-abdominal lymph nodes true Mycosis fungoides of intra-abdominal lymph nodes SNOMEDCT_2005_07_31:188622008 Mycosis fungoides of intra-abdominal lymph nodes (disorder) SNOMEDCT_2005_07_31:94707004 A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions. DOID:13553 DOID:9110 DOID:9122 DOID:9167 ICD10CM:B55.1 MESH:D016773 NCI:C34768 SNOMEDCT_US_2016_03_01:240637006 UMLS_CUI:C0023283 Asian Desert Cutaneous Leishmaniasis Leproid leishmaniasis diffuse cutaneous leishmaniasis disease_ontology DOID:9111 cutaneous leishmaniasis A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions. url:http://www.dpd.cdc.gov/dpdx/HTML/Leishmaniasis.htm Asian Desert Cutaneous Leishmaniasis NCI2004_11_17:C34770 Leproid leishmaniasis SNOMEDCT_2005_07_31:38573008 A primary bacterial infectious disease that results_in infection located_in skin or located_in mucosa of genital tract, has_material_basis_in Klebsiella granulomatis, transmitted by sexual contact or transmitted_by contact with the open sores. The infection has_symptom painless genital ulcers. ICD10CM:A58 ICD9CM:099.2 MESH:D006100 NCI:C3065 SNOMEDCT_US_2016_03_01:186947000 SNOMEDCT_US_2016_03_01:28867007 UMLS_CUI:C0018190 (Granuloma inguinale) or (donovanosis) or (pudendal ulcer) Granuloma Inguinale Granuloma inguinale (disorder) Pudendal ulcer donovanosis disease_ontology DOID:9113 granuloma inguinale A primary bacterial infectious disease that results_in infection located_in skin or located_in mucosa of genital tract, has_material_basis_in Klebsiella granulomatis, transmitted by sexual contact or transmitted_by contact with the open sores. The infection has_symptom painless genital ulcers. url:http://emedicine.medscape.com/article/1052617-overview url:http://en.wikipedia.org/wiki/Granuloma_inguinale (Granuloma inguinale) or (donovanosis) or (pudendal ulcer) SNOMEDCT_2005_07_31:186947000 Granuloma Inguinale CSP2005:0368-2705 Granuloma Inguinale NCI2004_11_17:C3065 Granuloma inguinale (disorder) SNOMEDCT_2005_07_31:28867007 Pudendal ulcer MTHICD9_2006:099.2 A Varicellovirus infectious disease that results_in inflammation located_in lung, has_material_basis_in Human herpesvirus 3, has_symptom rash, has_symptom tachypnea, has_symptom chest tightness, has_symptom cough, has_symptom dyspnea, has_symptom fever, has_symptom pleuretic chest pain, and has_symptom hemoptysis. Hemorrhagic varicella pneumonitis Varicella pneumonitis disease_ontology DOID:9114 Varicella-zoster virus pneumonia true A Varicellovirus infectious disease that results_in inflammation located_in lung, has_material_basis_in Human herpesvirus 3, has_symptom rash, has_symptom tachypnea, has_symptom chest tightness, has_symptom cough, has_symptom dyspnea, has_symptom fever, has_symptom pleuretic chest pain, and has_symptom hemoptysis. url:http://erj.ersjournals.com/content/21/5/886.full Hemorrhagic varicella pneumonitis MTH:NOCODE Varicella pneumonitis MTHICD9_2006:052.1 A Rubella virus infectious disease that results_in infection located_in joint, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom joint pains. rubella arthritis disease_ontology DOID:9115 Rubella virus arthritis true A Rubella virus infectious disease that results_in infection located_in joint, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom joint pains. url:http://books.google.com/books?id=e2eMlwknpAIC&pg=PA338&lpg#v=onepage&q&f=false Hodgkin's disease, lymphocytic depletion of spleen Hodgkin's disease, lymphocytic depletion of spleen (disorder) disease_ontology Hodgkin's disease, lymphocytic depletion, involving spleen DOID:9117 Hodgkin's lymphoma, lymphocytic depletion, involving spleen true Hodgkin's disease, lymphocytic depletion of spleen SNOMEDCT_2005_07_31:93491004 Hodgkin's disease, lymphocytic depletion of spleen (disorder) SNOMEDCT_2005_07_31:188592008 A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells. DOID:9118 DOID:9171 ICD10CM:C92.0 ICD10CM:C92.00 ICD9CM:205.0 KEGG:05221 MESH:D015470 NCI:C27753 NCI:C3171 OMIM:601626 SNOMEDCT_US_2016_03_01:154591002 SNOMEDCT_US_2016_03_01:17788007 SNOMEDCT_US_2016_03_01:277600006 SNOMEDCT_US_2016_03_01:413443009 SNOMEDCT_US_2016_03_01:91861009 UMLS_CUI:C0023467 AML - acute Myeloid Leukemia Leukemia, Myelocytic, acute acute myeloblastic leukemia acute myelogenous leukemia disease_ontology DOID:9119 OMIM mapping confirmed by DO. [SN]. acute myeloid leukemia A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells. url:http://cancergenome.nih.gov/cancersselected/acutemyeloidleukemia url:http://en.wikipedia.org/wiki/Acute_myeloid_leukemia url:http://www.cancer.gov/dictionary?cdrid=44363 AML - acute Myeloid Leukemia NCI2004_11_17:C3171 Leukemia, Myelocytic, acute MTH:NOCODE An acquired metabolic disease that involves abnormal deposited of amyloid proteins in organs and/or tissues. ICD10CM:E85 ICD10CM:E85.9 ICD9CM:277.3 ICD9CM:277.30 MESH:D000686 NCI:C2868 SNOMEDCT_US_2016_03_01:154769007 SNOMEDCT_US_2016_03_01:17602002 SNOMEDCT_US_2016_03_01:190931005 UMLS_CUI:C0002726 amyloid disease disease_ontology DOID:9120 amyloidosis An acquired metabolic disease that involves abnormal deposited of amyloid proteins in organs and/or tissues. url:http://en.wikipedia.org/wiki/Amyloidosis amyloid disease CSP2005:1849-1519 Hodgkin's disease, mixed cellularity, extranodal and solid organ sites disease_ontology DOID:9121 Hodgkin's lymphoma, mixed cellularity, extranodal and solid organ sites true A herpes simplex that results_in infection located_in skin, effected by preexisting dermatosis, has_material_basis_in Human herpesvirus 1 or Human herpesvirus 2. The infection has_symptom watery blisters, has_symptom fever, and has_symptom swelling of the lymph nodes. DOID:4408 DOID:9081 ICD10CM:B00.0 ICD9CM:054.0 ICD9CM:054.41 MESH:D007617 NCI:C35620 SNOMEDCT_US_2016_03_01:186535001 SNOMEDCT_US_2016_03_01:186544000 SNOMEDCT_US_2016_03_01:38875006 SNOMEDCT_US_2016_03_01:52464003 UMLS_CUI:C0153037 UMLS_CUI:C0854331 UMLS_CUI:C0936250 Eczema herpeticum (disorder) Eczema herpeticum (disorder) [Ambiguous] Herpes simplex dermatitis of eyelid (disorder) Herpes simplex eyelid dermatitis (disorder) Herpes simplex virus dermatitis herpes simplex dermatitis herpes simplex virus eyelid dermatitis disease_ontology DOID:9123 eczema herpeticum A herpes simplex that results_in infection located_in skin, effected by preexisting dermatosis, has_material_basis_in Human herpesvirus 1 or Human herpesvirus 2. The infection has_symptom watery blisters, has_symptom fever, and has_symptom swelling of the lymph nodes. url:http://www.eczema.com/eczema-herpeticum/ Eczema herpeticum (disorder) SNOMEDCT_2005_07_31:186535001 Eczema herpeticum (disorder) [Ambiguous] SNOMEDCT_2005_07_31:52464003 Herpes simplex dermatitis of eyelid (disorder) SNOMEDCT_2005_07_31:38875006 Herpes simplex eyelid dermatitis (disorder) SNOMEDCT_2005_07_31:186544000 Hodgkin's disease, lymphocytic depletion of intra-abdominal lymph nodes Hodgkin's disease, lymphocytic depletion of intra-abdominal lymph nodes (disorder) disease_ontology Hodgkin's disease, lymphocytic depletion, involving intra-abdominal lymph nodes DOID:9124 Hodgkin's lymphoma, lymphocytic depletion, involving intra-abdominal lymph nodes true Hodgkin's disease, lymphocytic depletion of intra-abdominal lymph nodes SNOMEDCT_2005_07_31:93484002 Hodgkin's disease, lymphocytic depletion of intra-abdominal lymph nodes (disorder) SNOMEDCT_2005_07_31:188587006 ICD10CM:C03.1 ICD9CM:143.1 SNOMEDCT_US_2016_03_01:363384006 SNOMEDCT_US_2016_03_01:93873003 UMLS_CUI:C0432581 malignant tumor of lower gingiva (disorder) malignant tumour of lower gum disease_ontology DOID:9125 lower gum cancer malignant tumor of lower gingiva (disorder) SNOMEDCT_2005_07_31:363384006 malignant tumour of lower gum SNOMEDCT_2005_07_31:93873003 A neuromuscular disease that is characterized by an abnormal reduction in the muscle volume and atrophy. MESH:D020966 NCI:C84574 UMLS_CUI:C0752352 disease_ontology DOID:913 atrophic muscular disease A neuromuscular disease that is characterized by an abnormal reduction in the muscle volume and atrophy. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C84574 Hodgkin's disease, nodular sclerosis of intrapelvic lymph nodes Hodgkin's disease, nodular sclerosis of intrapelvic lymph nodes (disorder) disease_ontology Hodgkin's disease, nodular sclerosis, involving intrapelvic lymph nodes DOID:9130 Hodgkin's lymphoma, nodular sclerosis, involving intrapelvic lymph nodes true Hodgkin's disease, nodular sclerosis of intrapelvic lymph nodes SNOMEDCT_2005_07_31:93512005 Hodgkin's disease, nodular sclerosis of intrapelvic lymph nodes (disorder) SNOMEDCT_2005_07_31:188570009 ICD10CM:D01.5 ICD9CM:230.8 SNOMEDCT_US_2016_03_01:189241005 SNOMEDCT_US_2016_03_01:189247009 SNOMEDCT_US_2016_03_01:271525004 UMLS_CUI:C0496854 carcinoma in situ of liver and biliary system carcinoma in situ of liver, gallbladder and bile ducts disease_ontology DOID:9132 liver carcinoma in situ carcinoma in situ of liver and biliary system SNOMEDCT_2005_07_31:271525004 carcinoma in situ of liver, gallbladder and bile ducts MTH:U001402 ICD10CM:D00.2 ICD9CM:230.2 NCI:C7788 SNOMEDCT_US_2016_03_01:189223002 SNOMEDCT_US_2016_03_01:92756002 UMLS_CUI:C0154060 carcinoma in situ of stomach gastric carcinoma in situ disease_ontology DOID:9138 stomach carcinoma in situ carcinoma in situ of stomach SNOMEDCT_2005_07_31:92756002 gastric carcinoma in situ NCI2004_11_17:C7788 ICD10CM:K76.4 MESH:D010382 SNOMEDCT_US_2016_03_01:197366003 SNOMEDCT_US_2016_03_01:240625009 SNOMEDCT_US_2016_03_01:58008004 UMLS_CUI:C0030781 hepatic peliosis disease_ontology DOID:914 peliosis hepatis hepatic peliosis SNOMEDCT_2005_07_31:240625009 ICD10CM:H01.14 ICD9CM:373.33 SNOMEDCT_US_2016_03_01:55846006 UMLS_CUI:C0155179 disease_ontology DOID:9140 xeroderma of eyelid A Simplexvirus infectious disease that results_in inflammation located_in brain and located_in meninges, has_material_basis_in Human herpesvirus 2 and has_symptom headache, has_symptom lesions in the brain, and has_symptom cerebral hemorrhage. Herpetic meningoencephalitis (disorder) disease_ontology DOID:9141 Herpes simplex virus meningoencephalitis true A Simplexvirus infectious disease that results_in inflammation located_in brain and located_in meninges, has_material_basis_in Human herpesvirus 2 and has_symptom headache, has_symptom lesions in the brain, and has_symptom cerebral hemorrhage. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1502977/pdf/califmed00041-0064.pdf Herpetic meningoencephalitis (disorder) SNOMEDCT_2005_07_31:9678009 Hodgkin's disease, lymphocytic depletion of lymph nodes of multiple sites Hodgkin's disease, lymphocytic depletion of lymph nodes of multiple sites (disorder) stage III Hodgkin's Lymphoma Lymphocyte Depletion type disease_ontology Hodgkin's disease, lymphocytic depletion, involving lymph nodes of multiple sites DOID:9142 Hodgkin's lymphoma, lymphocytic depletion, involving lymph nodes of multiple sites true Hodgkin's disease, lymphocytic depletion of lymph nodes of multiple sites SNOMEDCT_2005_07_31:93490003 Hodgkin's disease, lymphocytic depletion of lymph nodes of multiple sites (disorder) SNOMEDCT_2005_07_31:188593003 stage III Hodgkin's Lymphoma Lymphocyte Depletion type NCI2004_11_17:C3583 Burkitt's lymphoma of spleen (disorder) Burkitt's tumor of spleen (disorder) Splenic Burkitt's Lymphoma disease_ontology DOID:9143 Burkitt's tumor or lymphoma involving spleen true Burkitt's lymphoma of spleen (disorder) SNOMEDCT_2005_07_31:188516007 Burkitt's tumor of spleen (disorder) SNOMEDCT_2005_07_31:92515003 Splenic Burkitt's Lymphoma NCI2004_11_17:C7309 A leishmaniasis that is the most severe form of the disease caused by protozoan parasites of the Leishmania genus, resulting in the infection of the internal organs such as liver, spleen and bone marrow. The symptoms include fever, weight loss, and an enlarged spleen and liver. ICD10CM:B55.0 ICD9CM:085.0 MESH:D007898 NCI:C34771 OMIM:608207 OMIM:611381 OMIM:611382 ORDO:507 SNOMEDCT_US_2016_03_01:186803007 SNOMEDCT_US_2016_03_01:48115004 UMLS_CUI:C0023290 Infection by visceral leishmaniasis Kala-Azar disease_ontology DOID:9146 Xref MGI. visceral leishmaniasis A leishmaniasis that is the most severe form of the disease caused by protozoan parasites of the Leishmania genus, resulting in the infection of the internal organs such as liver, spleen and bone marrow. The symptoms include fever, weight loss, and an enlarged spleen and liver. url:http://en.wikipedia.org/wiki/Visceral_leishmaniasis url:http://www.dpd.cdc.gov/dpdx/HTML/Leishmaniasis.htm Infection by visceral leishmaniasis MTHICD9_2006:085.0 Kala-Azar NCI2004_11_17:C34771 ICD10CM:C05.0 ICD9CM:145.2 NCI:C3528 SNOMEDCT_US_2016_03_01:363387004 SNOMEDCT_US_2016_03_01:93822006 UMLS_CUI:C0153375 Hard Palate malignant neoplasm of hard palate malignant tumor of hard palate (disorder) malignant tumor of the Hard Palate malignant tumour of hard palate disease_ontology DOID:9149 hard palate cancer Hard Palate NCI2004_11_17:C12230 malignant neoplasm of hard palate MTH:U001235 malignant tumor of hard palate (disorder) SNOMEDCT_2005_07_31:363387004 malignant tumor of the Hard Palate NCI2004_11_17:C3528 malignant tumour of hard palate SNOMEDCT_2005_07_31:93822006 Hodgkin's disease, mixed cellularity of intrapelvic lymph nodes Hodgkin's disease, mixed cellularity of intrapelvic lymph nodes (disorder) disease_ontology Hodgkin's disease, mixed cellularity, involving intrapelvic lymph nodes DOID:9150 Hodgkin's lymphoma, mixed cellularity, involving intrapelvic lymph nodes true Hodgkin's disease, mixed cellularity of intrapelvic lymph nodes SNOMEDCT_2005_07_31:93503008 Hodgkin's disease, mixed cellularity of intrapelvic lymph nodes (disorder) SNOMEDCT_2005_07_31:188580008 A smallpox that results_in milder infection, located_in skin, has_material_basis_in Variola virus. The infection results_in_formation_of lesions. ICD9CM:050.1 MESH:D012899 NCI:C34365 SNOMEDCT_US_2016_03_01:72294005 UMLS_CUI:C0001906 Alastrim Variola minor cottonpox milkpox whitepox disease_ontology DOID:9153 variola minor A smallpox that results_in milder infection, located_in skin, has_material_basis_in Variola virus. The infection results_in_formation_of lesions. url:http://emedicine.medscape.com/article/830328-overview Alastrim SNOMEDCT_2005_07_31:72294005 Variola minor MTHICD9_2006:050.1 A leishmaniasis that involves a chronic inflammatory process involving the nasal, pharyngeal, and laryngeal mucosa, which can lead to extensive tissue destruction, caused by protozoan parasites belonging to the genus Leishmania. The infection is characterized by granulomatous lesion which can destroy upper respiratory tract mucosa. ICD10CM:B55.2 ICD9CM:085.5 MESH:D007897 SNOMEDCT_US_2016_03_01:186810001 SNOMEDCT_US_2016_03_01:39625001 SNOMEDCT_US_2016_03_01:403135004 UMLS_CUI:C1328252 American Cutaneous Leishmaniasis American cutaneous leishmaniasis American mucocutaneous leishmaniasis American mucocutaneous leishmaniasis (disorder) Cutaneous leishmaniasis, American Mucocutaneous leishmaniasis, (American) Mucocutaneous leishmaniasis, American New World cutaneous leishmaniasis disease_ontology DOID:9155 mucocutaneous leishmaniasis A leishmaniasis that involves a chronic inflammatory process involving the nasal, pharyngeal, and laryngeal mucosa, which can lead to extensive tissue destruction, caused by protozoan parasites belonging to the genus Leishmania. The infection is characterized by granulomatous lesion which can destroy upper respiratory tract mucosa. url:http://www.bmj.com/cgi/content/full/329/7470/842 American Cutaneous Leishmaniasis NCI2004_11_17:C34769 American cutaneous leishmaniasis SNOMEDCT_2005_07_31:186809006 American mucocutaneous leishmaniasis SNOMEDCT_2005_07_31:186810001 American mucocutaneous leishmaniasis SNOMEDCT_2005_07_31:39625001 American mucocutaneous leishmaniasis (disorder) SNOMEDCT_2005_07_31:403135004 Cutaneous leishmaniasis, American ICD9CM_2006:085.4 Mucocutaneous leishmaniasis, (American) ICD9CM_2006:085.5 Mucocutaneous leishmaniasis, American MTHICD9_2006:085.5 New World cutaneous leishmaniasis SNOMEDCT_2005_07_31:266122008 New World cutaneous leishmaniasis SNOMEDCT_2005_07_31:77327004 Hodgkin's disease, nodular sclerosis of intrathoracic lymph nodes Hodgkin's disease, nodular sclerosis of intrathoracic lymph nodes (disorder) disease_ontology Hodgkin's disease, nodular sclerosis, involving intrathoracic lymph nodes DOID:9157 Hodgkin's lymphoma, nodular sclerosis, involving intrathoracic lymph nodes true Hodgkin's disease, nodular sclerosis of intrathoracic lymph nodes SNOMEDCT_2005_07_31:93513000 Hodgkin's disease, nodular sclerosis of intrathoracic lymph nodes (disorder) SNOMEDCT_2005_07_31:188566001 Sezary's disease of intra-abdominal lymph nodes (disorder) Szary's disease of intra-abdominal lymph nodes (disorder) disease_ontology DOID:9158 Sezary's disease involving intra-abdominal lymph nodes true Sezary's disease of intra-abdominal lymph nodes (disorder) SNOMEDCT_2005_07_31:188632001 Szary's disease of intra-abdominal lymph nodes (disorder) SNOMEDCT_2005_07_31:95256006 A commensal bacterial infectious disease that results_in infection, located_in muscle tissue, has_material_basis_in Clostridium perfringens, which produce gas that becomes trapped in the infected tissue. Gas gangrene usually develops after injuries or surgery. The infection has_symptom large blisters, has_symptom pain in the infected area, has_symptom myonecrosis, has_symptom gas production, and has_symptom sepsis. ICD10CM:A48.0 ICD9CM:040.0 MESH:D005738 SNOMEDCT_US_2016_03_01:186407003 SNOMEDCT_US_2016_03_01:186413007 SNOMEDCT_US_2016_03_01:276198000 SNOMEDCT_US_2016_03_01:80466000 UMLS_CUI:C0017105 Gas bacillus infection Gas gangrene Myonecrosis disease_ontology DOID:9159 gas gangrene A commensal bacterial infectious disease that results_in infection, located_in muscle tissue, has_material_basis_in Clostridium perfringens, which produce gas that becomes trapped in the infected tissue. Gas gangrene usually develops after injuries or surgery. The infection has_symptom large blisters, has_symptom pain in the infected area, has_symptom myonecrosis, has_symptom gas production, and has_symptom sepsis. url:http://en.wikipedia.org/wiki/Gas_gangrene url:http://www.merckmanuals.com/home/sec17/ch190/ch190g.html#sec17-ch190-ch190g-157 Gas bacillus infection SNOMEDCT_2005_07_31:276198000 Gas gangrene SNOMEDCT_2005_07_31:80466000 DOID:692 NCI:C7103 NCI:C7106 UMLS_CUI:C1333419 UMLS_CUI:C1333976 epithelial hepatic and intrahepatic bile duct neoplasm disease_ontology DOID:916 liver neoplasm Sezary's disease of intrapelvic lymph nodes (disorder) Szary's disease of intrapelvic lymph nodes (disorder) disease_ontology DOID:9161 Sezary's disease involving intrapelvic lymph nodes true Sezary's disease of intrapelvic lymph nodes (disorder) SNOMEDCT_2005_07_31:188635004 Szary's disease of intrapelvic lymph nodes (disorder) SNOMEDCT_2005_07_31:95257002 An esophageal disease that is characterized by an inability of the esophagus to move food toward the stomach resulting from the lower esophogeal sphincter not fully relaxing during swallowing. ICD10CM:K22.0 ICD9CM:530.0 MESH:D004931 NCI:C84699 OMIM:200400 SNOMEDCT_US_2016_03_01:155672003 SNOMEDCT_US_2016_03_01:17460002 SNOMEDCT_US_2016_03_01:45564002 UMLS_CUI:C0014848 Lack of reflex relaxation of lower oesophageal sphincter achalasia of cardia achalasia of esophagus cardiospasm esophageal achalasia hypertensive lower esophageal sphincter disease_ontology DOID:9164 achalasia An esophageal disease that is characterized by an inability of the esophagus to move food toward the stomach resulting from the lower esophogeal sphincter not fully relaxing during swallowing. url:http://www.nlm.nih.gov/medlineplus/ency/article/000267.htm Lack of reflex relaxation of lower oesophageal sphincter SNOMEDCT_2005_07_31:17460002 achalasia of cardia MTHICD9_2006:530.0 achalasia of esophagus SNOMEDCT_2005_07_31:45564002 cardiospasm CSP2005:1248-5473 esophageal achalasia MTH:NOCODE hypertensive lower esophageal sphincter SNOMEDCT_2005_07_31:235630008 ICD10CM:L98.1 ICD9CM:698.4 SNOMEDCT_US_2016_03_01:156384004 SNOMEDCT_US_2016_03_01:27720003 SNOMEDCT_US_2016_03_01:402736003 UMLS_CUI:C1274184 Dermatitis artefacta Dermatitis factitia (disorder) Dermatitis factitia [artefacta] Dermatitis ficta Factitious skin disease (disorder) disease_ontology DOID:9165 neurotic excoriation Dermatitis artefacta SNOMEDCT_2005_07_31:156384004 Dermatitis factitia (disorder) SNOMEDCT_2005_07_31:27720003 Dermatitis factitia [artefacta] ICD9CM_2006:698.4 Dermatitis ficta MTHICD9_2006:698.4 Factitious skin disease (disorder) SNOMEDCT_2005_07_31:402736003 ICD10CM:D82.0 ICD9CM:279.12 MESH:D014923 NCI:C3448 OMIM:277970 OMIM:301000 SNOMEDCT_US_2016_03_01:36070007 UMLS_CUI:C0043194 Wiskott syndrome disease_ontology DOID:9169 OMIM mapping confirmed by DO. [SN]. Wiskott-Aldrich syndrome Wiskott syndrome CSP2005:1849-0285 NCI:C5753 UMLS_CUI:C1333968 leiomyoma of the Liver disease_ontology DOID:917 liver leiomyoma leiomyoma of the Liver NCI2004_11_17:C5753 ICD10CM:C08.0 ICD9CM:142.1 NCI:C3526 SNOMEDCT_US_2016_03_01:363380002 SNOMEDCT_US_2016_03_01:94077005 UMLS_CUI:C0153360 malignant neoplasm of submaxillary gland malignant tumor of submandibular gland (disorder) malignant tumor of the Submandibular gland disease_ontology DOID:9173 submandibular gland cancer malignant neoplasm of submaxillary gland MTHICD9_2006:142.1 malignant neoplasm of submaxillary gland SNOMEDCT_2005_07_31:94077005 malignant tumor of submandibular gland (disorder) SNOMEDCT_2005_07_31:363380002 malignant tumor of the Submandibular gland NCI2004_11_17:C3526 ICD10CM:D01.2 ICD9CM:230.4 NCI:C4853 SNOMEDCT_US_2016_03_01:308879003 SNOMEDCT_US_2016_03_01:92696009 UMLS_CUI:C0154062 Severe Rectal Dysplasia Severe dysplasia of rectum carcinoma in situ of rectum disease_ontology DOID:9174 rectum carcinoma in situ Severe Rectal Dysplasia NCI2004_11_17:C4853 Severe dysplasia of rectum SNOMEDCT_2005_07_31:308879003 carcinoma in situ of rectum SNOMEDCT_2005_07_31:92696009 NCI:C5858 UMLS_CUI:C1333967 Inflammatory Pseudotumor of the Liver disease_ontology DOID:918 liver inflammatory pseudotumor Inflammatory Pseudotumor of the Liver NCI2004_11_17:C5858 An amebiasis that involves infection of the intestine with the protozoan parasite Entamoeba histolytica trophozoites resulting in intermittent nondysenteric diarrhea with abdominal pain, mucus, flatulence, and weight loss. Chronic infection manifests as tender, palpable masses or annular lesions (amebomas) in the cecum and ascending colon. Amebic nondysenteric colitis (disorder) amoebic colitis disease_ontology DOID:9180 amebic colitis true An amebiasis that involves infection of the intestine with the protozoan parasite Entamoeba histolytica trophozoites resulting in intermittent nondysenteric diarrhea with abdominal pain, mucus, flatulence, and weight loss. Chronic infection manifests as tender, palpable masses or annular lesions (amebomas) in the cecum and ascending colon. url:http://www.dpd.cdc.gov/DPDx/HTML/Amebiasis.htm url:http://www.merck.com/mmpe/sec14/ch185/ch185b.html?qt=amebic%20colitis&alt=sh Amebic nondysenteric colitis (disorder) SNOMEDCT_2005_07_31:55023005 A parasitic protozoa infectious disease that involves infection caused by the amoeba Entamoeba histolytica. Amebic invasion of the intestinal lining causes dysentery, colitis or diarrhea. The infection can also spread through the blood to the liver and, rarely, to the lungs, brain or other organs. DOID:11901 DOID:11904 ICD10CM:A06 ICD10CM:A06.9 ICD9CM:006 ICD9CM:006.9 MESH:D000562 NCI:C84551 SNOMEDCT_US_2016_03_01:105637008 SNOMEDCT_US_2016_03_01:111909004 SNOMEDCT_US_2016_03_01:111910009 SNOMEDCT_US_2016_03_01:154274000 SNOMEDCT_US_2016_03_01:186122001 SNOMEDCT_US_2016_03_01:187278004 SNOMEDCT_US_2016_03_01:282008000 SNOMEDCT_US_2016_03_01:387754006 SNOMEDCT_US_2016_03_01:388759003 UMLS_CUI:C0002438 amoebiasis entamoebiasis disease_ontology chronic intestinal amebiasis DOID:9181 amebiasis A parasitic protozoa infectious disease that involves infection caused by the amoeba Entamoeba histolytica. Amebic invasion of the intestinal lining causes dysentery, colitis or diarrhea. The infection can also spread through the blood to the liver and, rarely, to the lungs, brain or other organs. url:http://en.wikipedia.org/wiki/Amoebiasis url:http://www.nlm.nih.gov/medlineplus/ency/article/000298.htm ICD10CM:L10 ICD10CM:L10.9 ICD9CM:694.4 MESH:D010392 NCI:C34909 SNOMEDCT_US_2016_03_01:156355008 SNOMEDCT_US_2016_03_01:200908008 SNOMEDCT_US_2016_03_01:65172003 UMLS_CUI:C0030807 disease_ontology DOID:9182 pemphigus disease_ontology DOID:9184 sleep arousal disorder true Hodgkin's paragranuloma of lymph nodes of inguinal region and lower limb (disorder) Hodgkin's paragranuloma of lymph nodes of inguinal region and/or lower limb (disorder) disease_ontology DOID:9186 Hodgkin's paragranuloma involving lymph nodes of inguinal region and lower limb true Hodgkin's paragranuloma of lymph nodes of inguinal region and lower limb (disorder) SNOMEDCT_2005_07_31:188528004 Hodgkin's paragranuloma of lymph nodes of inguinal region and/or lower limb (disorder) SNOMEDCT_2005_07_31:93543003 ICD10CM:C06.1 ICD9CM:145.1 SNOMEDCT_US_2016_03_01:187658004 SNOMEDCT_US_2016_03_01:187664006 SNOMEDCT_US_2016_03_01:94138009 UMLS_CUI:C0153374 malignant neoplasm of vestibule of mouth NOS (disorder) malignant tumor of vestibule of mouth malignant tumor of vestibule of mouth (disorder) disease_ontology DOID:9188 vestibule of mouth cancer malignant neoplasm of vestibule of mouth NOS (disorder) SNOMEDCT_2005_07_31:187664006 malignant tumor of vestibule of mouth MTH:U001025 malignant tumor of vestibule of mouth (disorder) SNOMEDCT_2005_07_31:187658004 Generalized hyperhidrosis (context-dependent category) Generalized hyperhidrosis (disorder) disease_ontology DOID:9189 generalized hyperhidrosis true Generalized hyperhidrosis (context-dependent category) SNOMEDCT_2005_07_31:206778009 Generalized hyperhidrosis (disorder) SNOMEDCT_2005_07_31:274673004 ICD9CM:362.07 SNOMEDCT_US_2016_03_01:312912001 UMLS_CUI:C0730285 disease_ontology DOID:9191 diabetic macular edema ICD10CM:K22.4 ICD9CM:530.5 MESH:D015154 SNOMEDCT_US_2016_03_01:196614005 SNOMEDCT_US_2016_03_01:266434009 SNOMEDCT_US_2016_03_01:40846004 SNOMEDCT_US_2016_03_01:61100004 SNOMEDCT_US_2016_03_01:79962008 UMLS_CUI:C0014858 Dyskinesia of oesophagus Oesophageal dysmotility Oesophageal motor disorder esophageal dysmotility esophageal motility disorder disease_ontology DOID:9192 dyskinesia of esophagus Dyskinesia of oesophagus SNOMEDCT_2005_07_31:61100004 Oesophageal dysmotility SNOMEDCT_2005_07_31:79962008 Oesophageal motor disorder SNOMEDCT_2005_07_31:40846004 esophageal dysmotility SNOMEDCT_2005_07_31:266434009 esophageal motility disorder MTH:NOCODE A Simplexvirus infectious disease that results_in inflammation located_in cornea of the eye, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom photophobia, has_symptom blurred vision, has_symptom tearing, has_symptom pain, and has_symptom redness. DOID:8565 DOID:8624 DOID:9023 Dendritic Keratitis herpes simplex disciform keratitis ocular herpes simplex disease_ontology DOID:9195 Herpes simplex virus keratitis true A Simplexvirus infectious disease that results_in inflammation located_in cornea of the eye, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom photophobia, has_symptom blurred vision, has_symptom tearing, has_symptom pain, and has_symptom redness. url:http://emedicine.medscape.com/article/1194268-overview Dendritic Keratitis NCI2004_11_17:C34743 Sezary's disease of intrathoracic lymph nodes (disorder) Szary's disease of intrathoracic lymph nodes (disorder) disease_ontology DOID:9198 Sezary's disease involving intrathoracic lymph nodes true Sezary's disease of intrathoracic lymph nodes (disorder) SNOMEDCT_2005_07_31:188631008 Szary's disease of intrathoracic lymph nodes (disorder) SNOMEDCT_2005_07_31:95258007 disease_ontology DOID:9199 cataplexy and narcolepsy true A communication disorder that involves difficulty with the act of speech production. MESH:D013064 NCI:C5041 UMLS_CUI:C0037822 disease_ontology DOID:92 speech disorder A communication disorder that involves difficulty with the act of speech production. url:http://en.wikipedia.org/wiki/Speech_disorders disease_ontology DOID:920 childhood liver neoplasm true A lichen disease that is located_in skin, located_in tongue or located_in oral mucosa, which presents itself in the form of papules, lesions or rashes. ICD10CM:L43 ICD10CM:L43.9 ICD9CM:697.0 MESH:D008010 NCI:C3189 SNOMEDCT_US_2016_03_01:156377007 SNOMEDCT_US_2016_03_01:201004002 SNOMEDCT_US_2016_03_01:4776004 UMLS_CUI:C0023646 Lichen, ruber planus lichen ruber planus disease_ontology DOID:9201 lichen planus A lichen disease that is located_in skin, located_in tongue or located_in oral mucosa, which presents itself in the form of papules, lesions or rashes. url:http://en.wikipedia.org/wiki/Lichen_planus Lichen, ruber planus MTHICD9_2006:697.0 lichen ruber planus CSP2005:2716-6962 disease_ontology DOID:9202 disorder of optic chiasm associated with pituitary neoplasm and disorder true Burkitt's lymphoma of intra-abdominal lymph nodes (disorder) disease_ontology DOID:9203 Burkitt's tumor or lymphoma involving intra-abdominal lymph nodes true Burkitt's lymphoma of intra-abdominal lymph nodes (disorder) SNOMEDCT_2005_07_31:188512009 EFO:0000280 ICD10CM:K22.7 ICD10CM:K22.70 ICD9CM:530.85 MESH:D001471 NCI:C2891 OMIM:614266 SNOMEDCT_US_2016_03_01:155679007 SNOMEDCT_US_2016_03_01:196603007 SNOMEDCT_US_2016_03_01:196609006 SNOMEDCT_US_2016_03_01:235597001 SNOMEDCT_US_2016_03_01:302914006 SNOMEDCT_US_2016_03_01:76355008 UMLS_CUI:C0004763 (ulcerative esophagitis) or (Barrett's esophagus) Barrett esophagus Barrett's esophagus with esophagitis Barrett's oesophagus Barrett's ulcer of esophagus Barretts syndrome CLE disease_ontology DOID:9206 Barrett's esophagus (ulcerative esophagitis) or (Barrett's esophagus) SNOMEDCT_2005_07_31:196603007 Barrett esophagus MTH:NOCODE Barrett's esophagus with esophagitis SNOMEDCT_2005_07_31:235597001 Barrett's oesophagus SNOMEDCT_2005_07_31:155679007 Barrett's ulcer of esophagus SNOMEDCT_2005_07_31:196609006 Barretts syndrome CSP2005:5000-0039 CLE NCI2004_11_17:C2891 A sleep disorder that involves involuntary limb movement during sleep. ICD10CM:G47.61 ICD9CM:327.51 MESH:D020189 SNOMEDCT_US_2016_03_01:418763003 UMLS_CUI:C0751774 nocturnal myoclonus disease_ontology DOID:9207 periodic limb movement disorder A sleep disorder that involves involuntary limb movement during sleep. url:http://en.wikipedia.org/wiki/Periodic_limb_movement_disorder A viral infectious disease that results_in inflammation located_in facial nerve, which leads to paralysis of one side of the face, has_material_basis_in Human herpesvirus 3, which reactivates after appearing as chickenpox in childhood. The infection has_symptom vesicular rash of the ear or mouth, has_symptom tinnitus, has_symptom vertigo, has_symptom otalgia, and has_symptom headache. ICD10CM:B02.21 ICD9CM:053.11 MESH:D016697 NCI:C84763 SNOMEDCT_US_2016_03_01:154330004 SNOMEDCT_US_2016_03_01:186518000 SNOMEDCT_US_2016_03_01:186529001 SNOMEDCT_US_2016_03_01:21954000 UMLS_CUI:C0017409 (Geniculate herpes zoster) or (Ramsey Hunt syndrome) Herpes Zoster Oticus Herpes zoster auricularis (disorder) Herpetic geniculate ganglionitis Ramsay Hunt syndrome type 2 Ramsay Hunt syndrome type II geniculate neuralgia nervus intermedius neuralgia disease_ontology DOID:9210 geniculate herpes zoster A viral infectious disease that results_in inflammation located_in facial nerve, which leads to paralysis of one side of the face, has_material_basis_in Human herpesvirus 3, which reactivates after appearing as chickenpox in childhood. The infection has_symptom vesicular rash of the ear or mouth, has_symptom tinnitus, has_symptom vertigo, has_symptom otalgia, and has_symptom headache. url:http://emedicine.medscape.com/article/1166804-overview url:http://www.ramsayhunt.org/what.shtml (Geniculate herpes zoster) or (Ramsey Hunt syndrome) SNOMEDCT_2005_07_31:186518000 Herpes Zoster Oticus MTH:NOCODE Herpes zoster auricularis (disorder) SNOMEDCT_2005_07_31:21954000 Herpetic geniculate ganglionitis MTHICD9_2006:053.11 ICD10CM:L44.0 ICD9CM:696.4 MESH:D010916 NCI:C85014 OMIM:173200 SNOMEDCT_US_2016_03_01:3755001 UMLS_CUI:C0032027 Devergie's disease Pityriasis rubra pilaris (disorder) disease_ontology DOID:9212 OMIM mapping confirmed by DO. [SN]. pityriasis rubra pilaris Devergie's disease MTHICD9_2006:696.4 Pityriasis rubra pilaris (disorder) SNOMEDCT_2005_07_31:3755001 A Simplexvirus infectious disease that results_in inflammation located_in iris and located_in ciliary body of the eye, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom redness, has_symptom photophobia, has_symptom lacrimation, and has_symptom blurred vision. Herpes simplex iridocyclitis (disorder) disease_ontology DOID:9214 Herpes simplex virus iridocyclitis true A Simplexvirus infectious disease that results_in inflammation located_in iris and located_in ciliary body of the eye, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom redness, has_symptom photophobia, has_symptom lacrimation, and has_symptom blurred vision. url:http://books.google.com/books?id=ydim6J7sFS4C&pg=PA504&lpg url:http://en.wikipedia.org/wiki/Iridocyclitis Herpes simplex iridocyclitis (disorder) SNOMEDCT_2005_07_31:13608004 Hodgkin's disease, lymphocytic depletion of lymph nodes of head, face and neck (disorder) Hodgkin's disease, lymphocytic depletion of lymph nodes of head, face and/or neck (disorder) Hodgkin's disease, lymphocytic depletion, involving lymph nodes of head, face and neck disease_ontology Hodgkin's disease, lymphocytic depletion, involving lymph nodes of head, face, and neck DOID:9216 Hodgkin's lymphoma, lymphocytic depletion, involving lymph nodes of head, face, and neck true Hodgkin's disease, lymphocytic depletion of lymph nodes of head, face and neck (disorder) SNOMEDCT_2005_07_31:188585003 Hodgkin's disease, lymphocytic depletion of lymph nodes of head, face and/or neck (disorder) SNOMEDCT_2005_07_31:93488004 Hodgkin's disease, lymphocytic depletion, involving lymph nodes of head, face and neck MTHICD9_2006:201.71 A Varicellovirus infectious disease that results_in infection located_in skin of eyelid, has_material_basis_in Human herpesvirus 3 and has_symptom rash after the reactivation of latent virus years after the primary infection. Herpes Zoster Dermatitis of eyelid Herpes zoster dermatitis of eyelids (disorder) Herpes zoster with dermatitis of eyelid (disorder) disease_ontology DOID:9217 herpes zoster eyelid dermatitis true A Varicellovirus infectious disease that results_in infection located_in skin of eyelid, has_material_basis_in Human herpesvirus 3 and has_symptom rash after the reactivation of latent virus years after the primary infection. url:http://www.ophthalmic.hyperguides.com/tutorials/oculoplastics/eyelid_infections/tutorial.asp?module=pain Herpes Zoster Dermatitis of eyelid NCI2004_11_17:C34696 Herpes zoster dermatitis of eyelids (disorder) SNOMEDCT_2005_07_31:67337008 Herpes zoster with dermatitis of eyelid (disorder) SNOMEDCT_2005_07_31:186525007 A sleep apnea that is characterized by a malfunction of the basic neurological controls for breathing rate and the failure to give the signal to inhale, causing the individual to miss one or more cycles of breathing. ICD10CM:G47.31 ICD9CM:327.21 MESH:D020182 OMIM:107640 OMIM:207720 SNOMEDCT_US_2016_03_01:9741000119101 UMLS_CUI:C0751762 primary central sleep apnea disease_ontology central sleep apnea syndrome DOID:9220 Xref MGI. central sleep apnea A sleep apnea that is characterized by a malfunction of the basic neurological controls for breathing rate and the failure to give the signal to inhale, causing the individual to miss one or more cycles of breathing. url:http://en.wikipedia.org/wiki/Central_sleep_apnea url:http://www.mayoclinic.org/diseases-conditions/sleep-apnea/basics/definition/con-20020286 url:http://www.nhlbi.nih.gov/health/health-topics/topics/sleepapnea/ disease_ontology DOID:9222 lymphosarcoma involving lymph nodes of inguinal region and lower limb true disease_ontology DOID:9224 vulva herpetic infectious disease true disease_ontology DOID:9225 Hodgkin's sarcoma involving intrapelvic lymph nodes true Hodgkin's disease, mixed cellularity of lymph nodes of head, face and neck (disorder) Hodgkin's disease, mixed cellularity of lymph nodes of head, face and/or neck (disorder) Hodgkin's disease, mixed cellularity, involving lymph nodes of head, face and neck disease_ontology Hodgkin's disease, mixed cellularity, involving lymph nodes of head, face, and neck DOID:9227 Hodgkin's lymphoma, mixed cellularity, involving lymph nodes of head, face, and neck true Hodgkin's disease, mixed cellularity of lymph nodes of head, face and neck (disorder) SNOMEDCT_2005_07_31:188575004 Hodgkin's disease, mixed cellularity of lymph nodes of head, face and/or neck (disorder) SNOMEDCT_2005_07_31:93506000 Hodgkin's disease, mixed cellularity, involving lymph nodes of head, face and neck MTHICD9_2006:201.61 A rubella that results_in infection has_material_basis_in Rubella virus, which is transmitted_by congenital method to the developing fetus of a pregnant woman who has contracted rubella during her first trimester. Congenital Rubella Congenital Rubella syndrome Congenital rubella syndrome Gestational rubella syndrome (disorder) disease_ontology DOID:9228 congenital rubella true A rubella that results_in infection has_material_basis_in Rubella virus, which is transmitted_by congenital method to the developing fetus of a pregnant woman who has contracted rubella during her first trimester. url:http://en.wikipedia.org/wiki/Congenital_rubella Congenital Rubella NCI2004_11_17:C34992 Congenital Rubella syndrome MTH:NOCODE Congenital rubella syndrome SNOMEDCT_2005_07_31:157117002 Gestational rubella syndrome (disorder) SNOMEDCT_2005_07_31:1857005 ICD9CM:705.81 MESH:D011146 SNOMEDCT_US_2016_03_01:156416008 SNOMEDCT_US_2016_03_01:156417004 SNOMEDCT_US_2016_03_01:201198005 SNOMEDCT_US_2016_03_01:201199002 SNOMEDCT_US_2016_03_01:201200004 SNOMEDCT_US_2016_03_01:201202007 SNOMEDCT_US_2016_03_01:25560004 SNOMEDCT_US_2016_03_01:267865000 SNOMEDCT_US_2016_03_01:267866004 SNOMEDCT_US_2016_03_01:274946003 SNOMEDCT_US_2016_03_01:402567004 UMLS_CUI:C0032633 Cheiropompholyx DYSHYDROTIC ECZEMA Vesicular eczema of hands and/or feet dyshidrosis disease_ontology DOID:9230 pompholyx Cheiropompholyx MTHICD9_2006:705.81 DYSHYDROTIC ECZEMA MTH:261 Vesicular eczema of hands and/or feet MTH:NOCODE ICD10CM:D09.1 ICD9CM:233.9 SNOMEDCT_US_2016_03_01:190185006 UMLS_CUI:C0154092 disease_ontology DOID:9234 kidney carcinoma in situ ICD10CM:C12 ICD9CM:148.1 NCI:C3531 SNOMEDCT_US_2016_03_01:363401000 SNOMEDCT_US_2016_03_01:93978008 UMLS_CUI:C0153400 malignant neoplasm of pyriform fossa malignant neoplasm of the Pyriform Fossa malignant tumor of pyriform fossa (disorder) disease_ontology DOID:9235 pyriform sinus cancer malignant neoplasm of pyriform fossa MTHICD9_2006:148.1 malignant neoplasm of the Pyriform Fossa NCI2004_11_17:C3531 malignant tumor of pyriform fossa (disorder) SNOMEDCT_2005_07_31:363401000 ICD10CM:I73.81 ICD9CM:443.82 MESH:D004916 NCI:C34593 SNOMEDCT_US_2016_03_01:238777005 SNOMEDCT_US_2016_03_01:37151006 UMLS_CUI:C0014804 disease_ontology DOID:9240 erythromelalgia Reticulosarcoma of lymph nodes of axilla and upper limb (disorder) disease_ontology DOID:9241 reticulosarcoma involving lymph nodes of axilla and upper limb true Reticulosarcoma of lymph nodes of axilla and upper limb (disorder) SNOMEDCT_2005_07_31:188492005 Reticulosarcoma of lymph nodes of axilla and upper limb (disorder) SNOMEDCT_2005_07_31:95227006 A liver disease that is characterized by an accumulation of bile in the liver resulting from a reducted number of liver small bile ducts. ICD10CM:Q44.7 MESH:D016738 NCI:C35139 OMIM:118450 OMIM:610205 SNOMEDCT_US_2016_03_01:31742004 UMLS_CUI:C0085280 Alagille-Watson syndrome Arteriohepatic dysplasia (disorder) disease_ontology DOID:9245 OMIM mapping confirmed by DO. [SN]. Alagille syndrome A liver disease that is characterized by an accumulation of bile in the liver resulting from a reducted number of liver small bile ducts. url:http://digestive.niddk.nih.gov/DDISEASES/pubs/alagille/ Alagille-Watson syndrome CSP2005:5005-0002 Arteriohepatic dysplasia (disorder) SNOMEDCT_2005_07_31:31742004 An amyloidosis where amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions and progressive dementia. MESH:D028243 OMIM:105150 OMIM:117300 OMIM:176500 OMIM:605714 ORDO:85458 SNOMEDCT_US_2016_03_01:56453003 UMLS_CUI:C0268394 Hereditary cerebral haemorrhage with amyloidosis - Dutch type (disorder) dutch hereditary cerebral amyloid angiopathy disease_ontology DOID:9246 Xref MGI. OMIM mapping confirmed by DO. [SN]. cerebral amyloid angiopathy An amyloidosis where amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions and progressive dementia. OMIM:605714 url:http://en.wikipedia.org/wiki/Cerebral_amyloid_angiopathy Hereditary cerebral haemorrhage with amyloidosis - Dutch type (disorder) SNOMEDCT_2005_07_31:56453003 MESH:D054975 NCI:C84987 OMIM:146510 SNOMEDCT_US_2016_03_01:56677004 UMLS_CUI:C0265220 Pallister-Hall syndrome (disorder) disease_ontology DOID:9248 OMIM mapping confirmed by DO. [SN]. Pallister-Hall syndrome Pallister-Hall syndrome (disorder) SNOMEDCT_2005_07_31:56677004 A syndrome that results_in multiple congenital anomalies, including hydrops fetalis, facial and visceral abnormalities, short ribs, and short limbs without polydactyly. MESH:C537599 OMIM:269860 SNOMEDCT_US_2016_03_01:254052001 UMLS_CUI:C0432198 type IV short rib polydactyly syndrome (disorder) disease_ontology DOID:9249 OMIM mapping confirmed by DO. [LS]. Beemer-Langer syndrome A syndrome that results_in multiple congenital anomalies, including hydrops fetalis, facial and visceral abnormalities, short ribs, and short limbs without polydactyly. url:http://en.wikipedia.org/wiki/Short_rib_%E2%80%93_polydactyly_syndrome url:http://www.springerlink.com/content/e0hmfh4fcl7m4kjw/ type IV short rib polydactyly syndrome (disorder) SNOMEDCT_2005_07_31:254052001 A syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation. MESH:D055673 NCI:C84531 OMIM:200990 UMLS_CUI:C0796147 ACLS SCHINZEL ACROCALLOSAL SYNDROME Schinzel syndrome 1 disease_ontology DOID:9250 OMIM mapping confirmed by DO. [SN]. acrocallosal syndrome A syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation. url:http://en.wikipedia.org/wiki/Acrocallosal_syndrome ACLS OMIM:200990 Schinzel syndrome 1 MTH:NOCODE An inherited metabolic disorders which impair the synthesis and degradation of amino acids. ICD10CM:E72.9 ICD9CM:270 ICD9CM:270.9 MESH:D000592 NCI:C97090 SNOMEDCT_US_2016_03_01:154734005 SNOMEDCT_US_2016_03_01:190680002 SNOMEDCT_US_2016_03_01:190740001 SNOMEDCT_US_2016_03_01:267496003 SNOMEDCT_US_2016_03_01:42930003 SNOMEDCT_US_2016_03_01:44779003 UMLS_CUI:C0002514 inborn errors of amino acid metabolism disease_ontology DOID:9252 amino acid metabolic disorder An inherited metabolic disorders which impair the synthesis and degradation of amino acids. url:http://en.wikipedia.org/wiki/Inborn_errors_of_amino_acid_metabolism MESH:D046152 NCI:C3868 OMIM:606764 SNOMEDCT_US_2016_03_01:128755003 SNOMEDCT_US_2016_03_01:420120006 UMLS_CUI:C0238198 GANT GIST Stromal tumor of gastrointestinal tract disease_ontology DOID:9253 OMIM mapping confirmed by DO. [SN]. gastrointestinal stromal tumor GANT NCI2004_11_17:C27940 GIST SNOMEDCT_2005_07_31:128755003 Stromal tumor of gastrointestinal tract NCI2004_11_17:C3868 A leukemia that results_in an overwhelming number of tissue mast cells located_in peripheral blood. ICD10CM:C94.3 ICD10CM:C94.30 MESH:D007946 NCI:C3169 SNOMEDCT_US_2016_03_01:110002002 SNOMEDCT_US_2016_03_01:128924002 SNOMEDCT_US_2016_03_01:188755006 SNOMEDCT_US_2016_03_01:70798001 UMLS_CUI:C0023461 disease_ontology DOID:9254 mast-cell leukemia A leukemia that results_in an overwhelming number of tissue mast cells located_in peripheral blood. url:http://medical-dictionary.thefreedictionary.com/mast+cell+leukemia A basal ganglia disease characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language. MESH:C563003 OMIM:600274 OMIM:600795 ORDO:282 SNOMEDCT_US_2016_03_01:42369001 UMLS_CUI:C0520716 Wilhemsen-Lynch disease frontotemporal lobar degeneration multiple system tauopathy with presenile dementia pallidopontonigral degeneration disease_ontology DOID:9255 Xref MGI. OMIM mapping confirmed by DO. [SN]. frontotemporal dementia A basal ganglia disease characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language. url:http://en.wikipedia.org/wiki/Frontotemporal_dementia url:http://www.mayoclinic.org/diseases-conditions/frontotemporal-dementia/basics/definition/con-20023876 url:http://www.ncbi.nlm.nih.gov/pubmed/21121521 url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/673/viewAbstract A large intestine cancer that is located_in the colon and/or located_in the rectum. KEGG:05210 MESH:D015179 OMIM:114500 OMIM:608812 OMIM:611469 OMIM:612229 OMIM:612230 OMIM:612231 OMIM:612232 OMIM:612589 OMIM:612590 OMIM:612591 OMIM:612592 OMIM:615083 UMLS_CUI:C1527249 disease_ontology DOID:9256 Xref MGI. OMIM mapping confirmed by DO. [SN]. colorectal cancer A large intestine cancer that is located_in the colon and/or located_in the rectum. url:http://www.cancer.gov/dictionary?CdrID=444983 An autosomal disease characterized by varying degrees of deafness, minor defects in structures arising from the neural crest and pigmentation anomalies of the hair, the skin and/or the iris of both eyes. MESH:D014849 NCI:C75008 NCI:C85222 OMIM:PS193500 ORDO:3440 ORDO:895 SNOMEDCT_US_2016_03_01:47434006 UMLS_CUI:C0079661 UMLS_CUI:C1847800 UMLS_CUI:C3266898 Waardenburg Shah syndrome Waardenburg syndrome van der Hoeve Halbertsona Waardenburg syndrome Waardenburg, types I and/or II disease_ontology DOID:9258 Xref MGI. OMIM mapping confirmed by DO. [SN]. Waardenburg's syndrome An autosomal disease characterized by varying degrees of deafness, minor defects in structures arising from the neural crest and pigmentation anomalies of the hair, the skin and/or the iris of both eyes. url:http://en.wikipedia.org/wiki/Waardenburg_syndrome url:http://rarediseases.info.nih.gov/gard/5525/waardenburg-syndrome/resources/1 url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/430/viewAbstract Waardenburg syndrome MTHICD9_2006:270.2 van der Hoeve Halbertsona Waardenburg syndrome CSP2005:4006-0098 Waardenburg, types I and/or II SNOMEDCT_2005_07_31:47434006 A pharynx cancer that is located_in the nasopharynx, the uppermost region of the pharynx or "throat", where the nasal passages and auditory tubes join the remainder of the upper respiratory tract. DOID:8813 DOID:8814 DOID:9057 DOID:9144 DOID:9197 DOID:9229 ICD10CM:C11 ICD10CM:C11.0 ICD10CM:C11.1 ICD10CM:C11.2 ICD10CM:C11.3 ICD10CM:C11.9 ICD9CM:147 ICD9CM:147.0 ICD9CM:147.1 ICD9CM:147.2 ICD9CM:147.3 ICD9CM:147.9 MESH:D009303 NCI:C9321 OMIM:161550 OMIM:607107 ORDO:150 SNOMEDCT_US_2016_03_01:187692001 SNOMEDCT_US_2016_03_01:187693006 SNOMEDCT_US_2016_03_01:187696003 SNOMEDCT_US_2016_03_01:187699005 SNOMEDCT_US_2016_03_01:187700006 SNOMEDCT_US_2016_03_01:187704002 SNOMEDCT_US_2016_03_01:187707009 SNOMEDCT_US_2016_03_01:363397008 SNOMEDCT_US_2016_03_01:363398003 SNOMEDCT_US_2016_03_01:709031009 SNOMEDCT_US_2016_03_01:93861003 SNOMEDCT_US_2016_03_01:93919005 SNOMEDCT_US_2016_03_01:93970001 SNOMEDCT_US_2016_03_01:94078000 UMLS_CUI:C0153392 UMLS_CUI:C0153393 UMLS_CUI:C0153394 UMLS_CUI:C0153395 UMLS_CUI:C0153396 UMLS_CUI:C0238301 Nasopharyngeal carcinoma malignant Nasopharyngeal tumor malignant neoplasm of anterior wall of nasopharynx malignant neoplasm of lateral wall of nasopharynx malignant neoplasm of lateral wall of nasopharynx NOS (disorder) malignant neoplasm of nasopharyngeal wall (disorder) malignant neoplasm of nasopharyngeal wall NOS malignant neoplasm of nasopharynx malignant neoplasm of nasopharynx (disorder) [Ambiguous] malignant neoplasm of other specified sites of nasopharynx malignant neoplasm of posterior wall of nasopharynx malignant neoplasm of roof of nasopharynx malignant neoplasm of superior wall of nasopharynx malignant tumor of anterior wall of nasopharynx malignant tumor of lateral wall of nasopharynx malignant tumor of posterior wall of nasopharynx nasopharynx cancer primary malignant neoplasm of anterior wall of nasopharynx disease_ontology carcinoma of nasopharynx DOID:9261 Xref MGI. OMIM mapping confirmed by DO. [SN]. nasopharynx carcinoma A pharynx cancer that is located_in the nasopharynx, the uppermost region of the pharynx or "throat", where the nasal passages and auditory tubes join the remainder of the upper respiratory tract. url:http://en.wikipedia.org/wiki/Nasopharyngeal_carcinoma Nasopharyngeal carcinoma NCI2004_11_17:C3871 malignant Nasopharyngeal tumor NCI2004_11_17:C9321 malignant neoplasm of lateral wall of nasopharynx NOS (disorder) SNOMEDCT_2005_07_31:187699005 malignant neoplasm of nasopharyngeal wall (disorder) SNOMEDCT_2005_07_31:240163000 malignant neoplasm of nasopharyngeal wall NOS MTHICD9_2006:147.9 malignant neoplasm of nasopharynx ICD9CM_2006:147 MTH:NOCODE malignant neoplasm of nasopharynx (disorder) [Ambiguous] SNOMEDCT_2005_07_31:93919005 malignant neoplasm of roof of nasopharynx MTHICD9_2006:147.0 malignant tumor of anterior wall of nasopharynx MTH:U001027 malignant tumor of lateral wall of nasopharynx MTH:U003238 malignant tumor of posterior wall of nasopharynx MTH:U001026 primary malignant neoplasm of anterior wall of nasopharynx SNOMEDCT_2005_07_31:93674007 An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine. ICD10CM:E72.11 MESH:D006712 NCI:C84765 OMIM:236200 OMIM:236250 ORDO:394 SNOMEDCT_US_2016_03_01:11282001 SNOMEDCT_US_2016_03_01:190709008 UMLS_CUI:C0019880 CBS deficiency cystathionine beta synthase deficiency cystathionine synthase deficiency disease_ontology DOID:9263 Xref MGI. homocystinuria An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine. url:http://en.wikipedia.org/wiki/Homocystinuria cystathionine synthase deficiency CSP2005:1849-0835 Disturbance of sulfur-bearing amino acid metabolism NOS (disorder) Disturbance of sulphur-bearing amino-acid metabolism NOS Disturbances of sulphur-bearing amino-acid metabolism Sulphuraminoacidaemia disease_ontology DOID:9264 sulfuraminoacidemia true Disturbance of sulfur-bearing amino acid metabolism NOS (disorder) SNOMEDCT_2005_07_31:267421004 Disturbance of sulphur-bearing amino-acid metabolism NOS SNOMEDCT_2005_07_31:190712006 Disturbances of sulphur-bearing amino-acid metabolism ICD9CM_2006:270.4 Sulphuraminoacidaemia SNOMEDCT_2005_07_31:28882002 An amino acid metabolic disorder that involves deficiency in histidine. ICD10CM:E70.4 ICD10CM:E70.40 ICD9CM:270.5 SNOMEDCT_US_2016_03_01:190715008 SNOMEDCT_US_2016_03_01:44176004 UMLS_CUI:C0268512 Disturbances of histidine metabolism disease_ontology DOID:9265 histidine metabolism disease An amino acid metabolic disorder that involves deficiency in histidine. url:http://en.wikipedia.org/wiki/Histidine#Metabolism Disturbances of histidine metabolism ICD9CM_2006:270.5 An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder. ICD10CM:E72.01 MESH:D003555 NCI:C84664 OMIM:220100 SNOMEDCT_US_2016_03_01:154738008 SNOMEDCT_US_2016_03_01:267498002 SNOMEDCT_US_2016_03_01:85020001 UMLS_CUI:C0010691 disease_ontology DOID:9266 OMIM mapping confirmed by DO. [SN]. cystinuria An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder. url:http://en.wikipedia.org/wiki/Cystinuria An amino acid metabolic disorder that involves a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream. ICD10CM:E72.2 ICD10CM:E72.20 ICD9CM:270.6 MESH:D056806 NCI:C84785 SNOMEDCT_US_2016_03_01:36444000 UMLS_CUI:C0154246 disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia disorder of urea cycle metabolism urea cycle defect disease_ontology DOID:9267 urea cycle disorder An amino acid metabolic disorder that involves a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream. url:http://en.wikipedia.org/wiki/Urea_cycle_disorder disorder of urea cycle metabolism ICD9CM_2006:270.6 An amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues. ICD10CM:E72.51 MESH:D020158 NCI:C84937 OMIM:605899 SNOMEDCT_US_2016_03_01:237939006 UMLS_CUI:C0751748 Non-ketotic hyperglycinemia Non-ketotic hyperglycinemia (disorder) nonketotic hyperglycinemia disease_ontology DOID:9268 OMIM mapping confirmed by DO. [SN]. glycine encephalopathy An amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues. url:http://en.wikipedia.org/wiki/Nonketotic_hyperglycinemia Non-ketotic hyperglycinemia (disorder) SNOMEDCT_2005_07_31:237939006 nonketotic hyperglycinemia CSP2005:1849-0664 An organic acidemia that is caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures. ICD10CM:E71.0 MESH:D008375 NCI:C34806 OMIM:246900 OMIM:248600 OMIM:615135 ORDO:511 SNOMEDCT_US_2016_03_01:27718001 UMLS_CUI:C0024776 Ketoacidaemia branched chain ketoaciduria disease_ontology dihydrolipoamide dehydrogenase deficiency DOID:9269 Xref MGI. OMIM mapping confirmed by DO. [SN]. maple syrup urine disease An organic acidemia that is caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures. URL:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=maple%20syrup%20urine%20disease Ketoacidaemia SNOMEDCT_2005_07_31:27718001 branched chain ketoaciduria CSP2005:1849-1063 dihydrolipoamide dehydrogenase deficiency OMIM:246900 metastatic neoplasm to the Brain secondary malignant neoplasm of brain (disorder) disease_ontology DOID:927 metastatic malignant neoplasm to brain true metastatic neoplasm to the Brain NCI2004_11_17:C3813 secondary malignant neoplasm of brain (disorder) SNOMEDCT_2005_07_31:94225005 An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct. DOID:0050714 ICD10CM:E70.29 MESH:D000474 NCI:C84546 OMIM:203500 ORDO:56 SNOMEDCT_US_2016_03_01:124207005 SNOMEDCT_US_2016_03_01:190689001 SNOMEDCT_US_2016_03_01:24250001 SNOMEDCT_US_2016_03_01:267418001 SNOMEDCT_US_2016_03_01:360378009 SNOMEDCT_US_2016_03_01:360381004 SNOMEDCT_US_2016_03_01:367388008 UMLS_CUI:C0002066 Homogentisate 1,2-dioxygenase deficiency alcaptonuria disease_ontology deficiency of homogentisicase DOID:9270 OMIM mapping confirmed by DO. [SN]. alkaptonuria An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct. url:http://en.wikipedia.org/wiki/Alkaptonuria Homogentisate 1,2-dioxygenase deficiency SNOMEDCT_2005_07_31:267418001 deficiency of homogentisicase SNOMEDCT_2005_07_31:124207005 An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase. ICD10CM:E72.4 MESH:D020163 NCI:C84957 OMIM:311250 SNOMEDCT_US_2016_03_01:124249000 SNOMEDCT_US_2016_03_01:80908008 UMLS_CUI:C0268542 deficiency of citrulline phosphorylase ornithine transcarbamylase deficiency disease_ontology DOID:9271 OMIM mapping confirmed by DO. [SN]. ornithine carbamoyltransferase deficiency An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase. url:http://en.wikipedia.org/wiki/Ornithine_carbamoyltransferase_deficiency deficiency of citrulline phosphorylase SNOMEDCT_2005_07_31:80908008 ornithine transcarbamylase deficiency CSP2005:1849-9662 An urea cycle disorder that involves the accumulation of ammonia in the blood. ICD10CM:E72.23 MESH:D020159 NCI:C84639 OMIM:215700 OMIM:603471 OMIM:605814 ORDO:187 SNOMEDCT_US_2016_03_01:124711003 SNOMEDCT_US_2016_03_01:15489004 SNOMEDCT_US_2016_03_01:398630005 SNOMEDCT_US_2016_03_01:398680004 UMLS_CUI:C0175683 ASS deficiency deficiency of citrulline-aspartate ligase disease_ontology DOID:9273 Xref MGI. OMIM mapping confirmed by DO. [SN]. citrullinemia An urea cycle disorder that involves the accumulation of ammonia in the blood. url:http://en.wikipedia.org/wiki/Citrullinemia ASS deficiency CSP2005:1849-9492 deficiency of citrulline-aspartate ligase SNOMEDCT_2005_07_31:124711003 An amino acid metabolic disorder that involves an abnormal increase of lysine in the blood. ICD10CM:E72.3 MESH:D020167 NCI:C123433 OMIM:238700 OMIM:238710 ORDO:2203 SNOMEDCT_US_2016_03_01:58558003 UMLS_CUI:C0268553 disease_ontology DOID:9274 OMIM mapping confirmed by DO. [SN]. hyperlysinemia An amino acid metabolic disorder that involves an abnormal increase of lysine in the blood. url:http://en.wikipedia.org/wiki/Hyperlysinemia An amino acid metabolic disorder that involves impaired break down of the amino acid tyrosine. ICD10CM:E70.21 MESH:D020176 NCI:C98640 SNOMEDCT_US_2016_03_01:190694001 UMLS_CUI:C0268483 disease_ontology DOID:9275 OMIM mapping submitted by NeuroDevNet. [LS]. tyrosinemia An amino acid metabolic disorder that involves impaired break down of the amino acid tyrosine. url:http://en.wikipedia.org/wiki/Tyrosinemia ICD9CM:334.2 MESH:D013132 SNOMEDCT_US_2016_03_01:192868000 SNOMEDCT_US_2016_03_01:192872001 SNOMEDCT_US_2016_03_01:23732000 UMLS_CUI:C0033132 disease_ontology DOID:9277 primary cerebellar degeneration An urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine. ICD10CM:E72.21 MESH:D020162 NCI:C84568 OMIM:207800 SNOMEDCT_US_2016_03_01:124518006 SNOMEDCT_US_2016_03_01:23501004 UMLS_CUI:C0268548 Arginase deficiency (disorder) argininemia deficiency of canavanase disease_ontology DOID:9278 OMIM mapping confirmed by DO. [SN]. hyperargininemia An urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine. url:http://www.medlink.com/medlinkcontent.asp Arginase deficiency (disorder) SNOMEDCT_2005_07_31:23501004 argininemia CSP2005:1849-9378 deficiency of canavanase SNOMEDCT_2005_07_31:124518006 An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood. MESH:D020138 NCI:C84770 SNOMEDCT_US_2016_03_01:419503008 UMLS_CUI:C0598608 disease_ontology DOID:9279 hyperhomocysteinemia An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood. url:http://en.wikipedia.org/wiki/Hyperhomocysteinemia CNS metastases (tumor staging) metastatic tumor to the CNS disease_ontology DOID:928 CNS metastases true CNS metastases (tumor staging) SNOMEDCT_2005_07_31:261731003 metastatic tumor to the CNS NCI2004_11_17:C4015 An amino acid metabolic disorder that involves accumulation of ammonia in the blood. MESH:D020165 NCI:C84612 OMIM:237300 SNOMEDCT_US_2016_03_01:62522004 UMLS_CUI:C0751753 CPS I deficiency disease_ontology DOID:9280 OMIM mapping confirmed by DO. [SN]. carbamoyl phosphate synthetase I deficiency disease An amino acid metabolic disorder that involves accumulation of ammonia in the blood. url:http://ghr.nlm.nih.gov/condition/carbamoyl-phosphate-synthetase-i-deficiency An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional. DOID:14455 ICD9CM:270.1 MESH:D010661 MESH:D017042 NCI:C81315 OMIM:261600 SNOMEDCT_US_2016_03_01:154735006 SNOMEDCT_US_2016_03_01:190687004 SNOMEDCT_US_2016_03_01:297225000 UMLS_CUI:C0031485 UMLS_CUI:C0085547 Følling's disease PKU maternal phenylketonuria phenylalaninemia disease_ontology DOID:9281 OMIM mapping confirmed by DO. [SN]. phenylketonuria An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional. url:http://en.wikipedia.org/wiki/Phenylketonuria PKU MTHICD9_2006:270.1 phenylalaninemia CSP2005:1849-1177 An eye disease that is characterized by elevated intraocular pressure in the absence of optic nerve damage or visual field loss. ICD10CM:H40.05 ICD9CM:365.04 MESH:D009798 NCI:C3285 SNOMEDCT_US_2016_03_01:155121008 SNOMEDCT_US_2016_03_01:193536008 SNOMEDCT_US_2016_03_01:267721003 SNOMEDCT_US_2016_03_01:4210003 UMLS_CUI:C0028840 disease_ontology DOID:9282 ocular hypertension An eye disease that is characterized by elevated intraocular pressure in the absence of optic nerve damage or visual field loss. url:https://en.wikipedia.org/wiki/Ocular_hypertension ICD10CM:H40.00 ICD9CM:365.00 SNOMEDCT_US_2016_03_01:193532005 SNOMEDCT_US_2016_03_01:359633007 SNOMEDCT_US_2016_03_01:47891005 UMLS_CUI:C0549470 Preglaucoma disease_ontology DOID:9283 borderline glaucoma Preglaucoma SNOMEDCT_2005_07_31:359633007 A peripheral vascular disease characterized by blood trapped in the penis that is unable to drain. ICD10CM:N48.3 ICD10CM:N48.30 ICD9CM:607.3 MESH:D011317 NCI:C85022 SNOMEDCT_US_2016_03_01:155930001 SNOMEDCT_US_2016_03_01:198027001 SNOMEDCT_US_2016_03_01:4287008 SNOMEDCT_US_2016_03_01:6273006 UMLS_CUI:C0033117 Mentulagra disease_ontology DOID:9286 priapism A peripheral vascular disease characterized by blood trapped in the penis that is unable to drain. url:http://en.wikipedia.org/wiki/Priapism url:http://my.clevelandclinic.org/disorders/priapism/hic_priapism.aspx Mentulagra SNOMEDCT_2005_07_31:4287008 vascular disorder of penis disease_ontology DOID:9287 penile vascular disorder true vascular disorder of penis ICD9CM_2006:607.82 ICD10CM:H05.82 ICD9CM:376.82 SNOMEDCT_US_2016_03_01:57130002 UMLS_CUI:C0155286 Myopathy of extraocular muscles (disorder) disease_ontology DOID:929 myopathy of extraocular muscle Myopathy of extraocular muscles (disorder) SNOMEDCT_2005_07_31:57130002 DOID:9333 EFO:0003959 ICD10CM:Q36 ICD10CM:Q36.9 ICD9CM:749.1 ICD9CM:749.10 ICD9CM:749.11 MESH:D002971 NCI:C87175 SNOMEDCT_US_2016_03_01:156941008 SNOMEDCT_US_2016_03_01:204606000 SNOMEDCT_US_2016_03_01:204609007 SNOMEDCT_US_2016_03_01:62696001 SNOMEDCT_US_2016_03_01:80281008 UMLS_CUI:C0008924 UMLS_CUI:C0158651 Labium leporinum cheiloschisis cleft lip, unilateral, complete complete unilateral cleft lip hare lip disease_ontology DOID:9296 cleft lip Labium leporinum MTHICD9_2006:749.1 cleft lip, unilateral, complete ICD9CM_2006:749.11 hare lip CSP2005:0725-8436 ICD10CM:K13.0 ICD9CM:528.5 MESH:D008047 NCI:C26818 SNOMEDCT_US_2016_03_01:196563002 SNOMEDCT_US_2016_03_01:90678009 UMLS_CUI:C0023760 disease of lips disease_ontology DOID:9297 lip disease disease of lips ICD9CM_2006:528.5 DOID:14536 NCI:C4569 NCI:C5349 SNOMEDCT_US_2016_03_01:126732009 SNOMEDCT_US_2016_03_01:363437005 SNOMEDCT_US_2016_03_01:93914000 UMLS_CUI:C0346611 UMLS_CUI:C1290402 malignant Myocardial tumor malignant neoplasm of myocardium tumor of Myocardium disease_ontology DOID:9299 myocardium cancer malignant Myocardial tumor NCI2004_11_17:C4569 malignant neoplasm of myocardium MTHICD9_2006:164.1 SNOMEDCT_2005_07_31:93914000 tumor of Myocardium NCI2004_11_17:C5349 A communication disorder that involves the processing of linguistic information. ICD10CM:F80.9 MESH:D007806 NCI:C97155 SNOMEDCT_US_2016_03_01:62305002 UMLS_CUI:C0023015 disease_ontology DOID:93 language disorder A communication disorder that involves the processing of linguistic information. url:http://en.wikipedia.org/wiki/Language_disorder An adnexa disease that is located_in the eye socket. ICD10CM:H05 ICD10CM:H05.9 ICD9CM:376 ICD9CM:376.9 MESH:D009916 SNOMEDCT_US_2016_03_01:11270005 SNOMEDCT_US_2016_03_01:155200004 SNOMEDCT_US_2016_03_01:194036005 SNOMEDCT_US_2016_03_01:267746003 UMLS_CUI:C0029182 disease_ontology DOID:930 orbital disease An adnexa disease that is located_in the eye socket. url:http://www.hopkinsmedicine.org/wilmer/services/oculofacial_plastic_surgery/reconstructive/orbital_disease.html NCI:C5359 UMLS_CUI:C1096349 Neurofibroma of Heart disease_ontology DOID:9300 neurofibroma of the heart Neurofibroma of Heart NCI2004_11_17:C5359 An abdominal tuberculosis that results_in formation of granulomas or abscesses located_in spleen. ICD10CM:A18.85 ICD9CM:017.7 MESH:D014400 SNOMEDCT_US_2016_03_01:28399005 UMLS_CUI:C0041331 disease_ontology DOID:9305 splenic tuberculosis An abdominal tuberculosis that results_in formation of granulomas or abscesses located_in spleen. url:http://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf ICD10CM:H50.6 ICD10CM:H50.60 ICD9CM:378.6 ICD9CM:378.60 MESH:D013285 SNOMEDCT_US_2016_03_01:194121009 SNOMEDCT_US_2016_03_01:194124001 SNOMEDCT_US_2016_03_01:5371001 UMLS_CUI:C0152223 disease_ontology DOID:9306 mechanical strabismus ICD10CM:K62.3 ICD9CM:569.1 MESH:D012005 NCI:C34973 SNOMEDCT_US_2016_03_01:155802002 SNOMEDCT_US_2016_03_01:197212009 SNOMEDCT_US_2016_03_01:197214005 SNOMEDCT_US_2016_03_01:197215006 SNOMEDCT_US_2016_03_01:57773001 UMLS_CUI:C0034888 Procidentia, rectum disease_ontology DOID:9307 rectal prolapse Procidentia, rectum MTHICD9_2006:569.1 A parasitic helminthiasis infectious disease that involves zoonotic infection caused by Moniezia expansa, the common tapeworm of sheep. MESH:D008989 UMLS_CUI:C0026414 disease_ontology DOID:931 monieziasis A parasitic helminthiasis infectious disease that involves zoonotic infection caused by Moniezia expansa, the common tapeworm of sheep. url:http://www.ncbi.nlm.nih.gov/pubmed/15287174 url:http://www.online-medical-dictionary.org/Monieziasis.asp?q=Monieziasis NCI:C4413 SNOMEDCT_US_2016_03_01:126670003 UMLS_CUI:C0345630 neoplasm of nasal cavity (disorder) tumor of the nasal cavity disease_ontology DOID:9310 nasal cavity neoplasm neoplasm of nasal cavity (disorder) SNOMEDCT_2005_07_31:126670003 tumor of the nasal cavity NCI2004_11_17:C4413 A ethmoid sinusitis which lasts for 12 weeks or more. ICD10CM:J32.2 ICD9CM:473.2 NCI:C34472 SNOMEDCT_US_2016_03_01:155528009 SNOMEDCT_US_2016_03_01:266384001 SNOMEDCT_US_2016_03_01:73237007 UMLS_CUI:C0008681 chronic ethmoid sinusitis chronic ethmoidal sinusitis ethmoidal sinusitis - chronic disease_ontology DOID:9312 chronic ethmoiditis A ethmoid sinusitis which lasts for 12 weeks or more. url:http://en.wikipedia.org/wiki/sinusitis url:http://www.merck.com/mmhe/sec19/ch221/ch221i.html chronic ethmoidal sinusitis NCI2004_11_17:C34472 ethmoidal sinusitis - chronic SNOMEDCT_2005_07_31:266384001 Glaucoma associated with anomalies of iris (disorder) disease_ontology DOID:9314 glaucoma associated with anomalies of iris true Glaucoma associated with anomalies of iris (disorder) SNOMEDCT_2005_07_31:26467009 A lymphatic system disease that is characterized by inflammation of the lymphatic channels which occurs as a result of infection at a site distal to the channel. It is caused by Streptococcus pyogenes (Group A strep) or Staphylococcus aureus. Lymphangitis is also sometimes called blood poisoning. ICD10CM:I89.1 ICD9CM:457.2 MESH:D008205 NCI:C34790 SNOMEDCT_US_2016_03_01:1415005 SNOMEDCT_US_2016_03_01:266335009 UMLS_CUI:C0024225 disease_ontology DOID:9317 lymphangitis A lymphatic system disease that is characterized by inflammation of the lymphatic channels which occurs as a result of infection at a site distal to the channel. It is caused by Streptococcus pyogenes (Group A strep) or Staphylococcus aureus. Lymphangitis is also sometimes called blood poisoning. url:http://en.wikipedia.org/wiki/Lymphangitis url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Lymphangitis DOID:10984 DOID:10985 DOID:12831 Displacement of lumbar intervertebral disc without myelopathy Displacement of lumbar intervertebral disc without myelopathy (disorder) Displacement of thoracic intervertebral disc without myelopathy (disorder) displacement of the lumbar or lumbosacral intervertebral disc without myelopathy displacement of thoracic intervertebral disc without myelopathy displacement of thoracic or lumbar intervertebral disc without myelopathy disease_ontology DOID:9321 intervertebral disc disorder true Displacement of lumbar intervertebral disc without myelopathy ICD9CM_2006:722.10 Displacement of lumbar intervertebral disc without myelopathy (disorder) SNOMEDCT_2005_07_31:20021007 Displacement of thoracic intervertebral disc without myelopathy (disorder) SNOMEDCT_2005_07_31:64787009 A parasitic helminthiasis infectious disease that involves infection by parasitic flatworms known as tapeworms living in the vertebrate digestive tract. DOID:10077 Cestode infection (disorder) Cestode infection NOS (disorder) Cestode infection, unspecified (disorder) Cestode infestation Infection by Taenia (disorder) Taenia infestation Taeniasis, unspecified Taeniasis, unspecified (disorder) Tapeworm infection NOS Unspecified teniasis (disorder) disease due to Cestoda teniasis disease_ontology DOID:933 Cestoda infectious disease true A parasitic helminthiasis infectious disease that involves infection by parasitic flatworms known as tapeworms living in the vertebrate digestive tract. url:http://en.wikipedia.org/wiki/Cestodes Cestode infection (disorder) SNOMEDCT_2005_07_31:86133004 Cestode infection NOS (disorder) SNOMEDCT_2005_07_31:187156004 Cestode infection, unspecified (disorder) SNOMEDCT_2005_07_31:187530000 Cestode infestation SNOMEDCT_2005_07_31:154410004 Cestode infestation SNOMEDCT_2005_07_31:266219000 Infection by Taenia (disorder) SNOMEDCT_2005_07_31:76172008 Taenia infestation SNOMEDCT_2005_07_31:154415009 SNOMEDCT_2005_07_31:266222003 Taeniasis, unspecified ICD9CM_2006:123.3 Taeniasis, unspecified (disorder) SNOMEDCT_2005_07_31:187525004 Tapeworm infection NOS MTHICD9_2006:123.9 Unspecified teniasis (disorder) SNOMEDCT_2005_07_31:187150005 disease due to Cestoda SNOMEDCT_2005_07_31:105677000 DOID:10750 DOID:10751 DOID:9482 ICD10CM:H53.42 ICD10CM:H53.43 ICD10CM:H53.45 ICD9CM:368.42 ICD9CM:368.43 ICD9CM:368.44 ICD9CM:368.45 SNOMEDCT_US_2016_03_01:193673000 SNOMEDCT_US_2016_03_01:33970004 UMLS_CUI:C0029657 UMLS_CUI:C0152192 UMLS_CUI:C0155011 UMLS_CUI:C0155012 Blind spot area scotoma Enlarged angioscotoma Enlarged blind spot Enlarged paracaecal scotoma Generalized visual field contraction or constriction Scotoma of blind spot area Sector or arcuate visual field defects disease_ontology DOID:9335 scotoma Blind spot area scotoma SNOMEDCT_2005_07_31:193673000 Enlarged angioscotoma MTHICD9_2006:368.42 Enlarged paracaecal scotoma SNOMEDCT_2005_07_31:33970004 Scotoma of blind spot area ICD9CM_2006:368.42 ICD9CM:302.1 SNOMEDCT_US_2016_03_01:154907002 SNOMEDCT_US_2016_03_01:268763002 SNOMEDCT_US_2016_03_01:31997002 SNOMEDCT_US_2016_03_01:81463002 UMLS_CUI:C0152186 Zoophilia disease_ontology DOID:9336 bestiality Zoophilia ICD9CM_2006:302.1 ICD10CM:N36.5 ICD9CM:599.4 SNOMEDCT_US_2016_03_01:74944002 UMLS_CUI:C0156286 disease_ontology DOID:9339 urethral false passage A disease by infectious agent that results_in infection, has_material_basis_in Viruses. DOID:1329 ICD10CM:A94 ICD10CM:B34 ICD10CM:B34.9 ICD9CM:060-066.99 ICD9CM:066.9 MESH:D001102 MESH:D014777 NCI:C3439 NCI:C34396 SNOMEDCT_US_2016_03_01:154319002 SNOMEDCT_US_2016_03_01:154345006 SNOMEDCT_US_2016_03_01:154372003 SNOMEDCT_US_2016_03_01:186619002 SNOMEDCT_US_2016_03_01:186754003 SNOMEDCT_US_2016_03_01:187471008 SNOMEDCT_US_2016_03_01:266116004 SNOMEDCT_US_2016_03_01:266188005 SNOMEDCT_US_2016_03_01:266194002 SNOMEDCT_US_2016_03_01:34014006 SNOMEDCT_US_2016_03_01:40610006 UMLS_CUI:C0003723 UMLS_CUI:C0042769 Viral Infection Viral disease virus infection disease_ontology DOID:934 viral infectious disease A disease by infectious agent that results_in infection, has_material_basis_in Viruses. url:http://www.merck.com/mmhe/sec17/ch198/ch198a.html Viral Infection NCI2004_11_17:C3439 Viral disease SNOMEDCT_2005_07_31:266188005 virus infection CSP2005:3099-8150 DOID:12562 DOID:12833 Complete unilateral cleft palate with cleft lip (disorder) Unilateral complete cleft palate with cleft lip Unilateral complete cleft palate with cleft lip (disorder) Unilateral incomplete cleft palate with cleft lip Unilateral incomplete cleft palate with cleft lip (disorder) cleft palate with cleft lip, unilateral, complete cleft palate with cleft lip, unilateral, incomplete incomplete unilateral cleft palate with cleft lip (disorder) disease_ontology DOID:9340 cheilopalatoschisis true Complete unilateral cleft palate with cleft lip (disorder) SNOMEDCT_2005_07_31:50484006 Unilateral complete cleft palate with cleft lip (disorder) SNOMEDCT_2005_07_31:204612005 Unilateral incomplete cleft palate with cleft lip (disorder) SNOMEDCT_2005_07_31:204613000 cleft palate with cleft lip, unilateral, complete ICD9CM_2006:749.21 cleft palate with cleft lip, unilateral, incomplete ICD9CM_2006:749.22 incomplete unilateral cleft palate with cleft lip (disorder) SNOMEDCT_2005_07_31:18474007 ICD10CM:N36.1 ICD9CM:599.2 NCI:C39861 SNOMEDCT_US_2016_03_01:90531003 UMLS_CUI:C0152443 disease_ontology DOID:9341 urethral diverticulum ICD9CM:625.5 SNOMEDCT_US_2016_03_01:156027002 SNOMEDCT_US_2016_03_01:39402007 UMLS_CUI:C0152078 Congestion-fibrosis syndrome Taylor syndrome pelvic congestion syndrome disease_ontology DOID:9346 Taylor's syndrome Congestion-fibrosis syndrome MTHICD9_2006:625.5 pelvic congestion syndrome ICD9CM_2006:625.5 ICD10CM:I77.71 ICD9CM:443.21 SNOMEDCT_US_2016_03_01:230729006 UMLS_CUI:C0338585 Carotid artery dissection (disorder) Dissection of carotid artery disease_ontology DOID:9348 carotid artery dissection Carotid artery dissection (disorder) SNOMEDCT_2005_07_31:230729006 Dissection of carotid artery ICD9CM_2006:443.21 A glucose metabolism disease characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both. ICD10CM:E08-E13 ICD10CM:E11 ICD9CM:250 MESH:D003920 NCI:C2985 SNOMEDCT_US_2016_03_01:154671004 SNOMEDCT_US_2016_03_01:191044006 SNOMEDCT_US_2016_03_01:267467004 SNOMEDCT_US_2016_03_01:73211009 UMLS_CUI:C0011849 disease_ontology DOID:9351 diabetes mellitus A glucose metabolism disease characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=9686693 url:http://www.who.int/diabetes/action_online/basics/en/ url:https://en.wikipedia.org/wiki/Diabetes_mellitus A diabetes mellitus that involves high blood glucose resulting from cells fail to use insulin properly. EFO:0001360 ICD10CM:E11 KEGG:04930 MESH:D003924 NCI:C26747 OMIM:125853 OMIM:601283 OMIM:601407 OMIM:603694 OMIM:608036 SNOMEDCT_US_2016_03_01:154672006 SNOMEDCT_US_2016_03_01:190323008 SNOMEDCT_US_2016_03_01:190384004 SNOMEDCT_US_2016_03_01:267468009 SNOMEDCT_US_2016_03_01:44054006 UMLS_CUI:C0011860 NIDDM non-insulin-dependent diabetes mellitus type II diabetes mellitus disease_ontology DOID:9352 Xref MGI. OMIM mapping confirmed by DO. [SN]. type 2 diabetes mellitus A diabetes mellitus that involves high blood glucose resulting from cells fail to use insulin properly. url:http://en.wikipedia.org/wiki/Diabetes url:http://en.wikipedia.org/wiki/Diabetes_mellitus_type_2 Congen. disloc. hip Congenital dislocation of hip Congenital dislocation of hip NOS Congenital dislocation of hip NOS (disorder) Congenital dysplasia of the hip Developmental dislocation of hip Developmental dysplasia of the hip disease_ontology DOID:9353 congenital hip dislocation true Congen. disloc. hip SNOMEDCT_2005_07_31:157001006 Congen. disloc. hip SNOMEDCT_2005_07_31:268347007 Congenital dislocation of hip ICD9CM_2006:754.3 Congenital dislocation of hip NOS MTHICD9_2006:754.30 Congenital dislocation of hip NOS SNOMEDCT_2005_07_31:205050009 Congenital dislocation of hip NOS (disorder) SNOMEDCT_2005_07_31:205061001 Congenital dysplasia of the hip SNOMEDCT_2005_07_31:205337000 Developmental dislocation of hip SNOMEDCT_2005_07_31:48334007 Developmental dysplasia of the hip SNOMEDCT_2005_07_31:52781008 disease_ontology DOID:9357 hyperemesis gravidarum true ICD9CM:726.63 SNOMEDCT_US_2016_03_01:202870007 SNOMEDCT_US_2016_03_01:77323000 UMLS_CUI:C0158316 Fibular collateral ligament bursitis (disorder) disease_ontology DOID:9358 fibular collateral ligament bursitis Fibular collateral ligament bursitis (disorder) SNOMEDCT_2005_07_31:77323000 disease_ontology DOID:9359 enthesopathy of knee true DOID:8510 ICD10CM:G93.40 ICD10CM:G93.9 ICD9CM:348.3 ICD9CM:348.30 ICD9CM:348.9 MESH:D001927 NCI:C26920 NCI:C96413 SNOMEDCT_US_2016_03_01:155053002 SNOMEDCT_US_2016_03_01:193051008 SNOMEDCT_US_2016_03_01:193059005 SNOMEDCT_US_2016_03_01:76011009 SNOMEDCT_US_2016_03_01:81308009 UMLS_CUI:C0006111 UMLS_CUI:C0085584 encephalopathy disease_ontology DOID:936 brain disease An asthma that is triggered by factors not related to allergies such as anxiety, stress, exercise, cold air, dry air, hyperventilation, smoke, viruses, chemical irritants, autonomic imbalance, hormonal deficiencies and psychogenic influences. It is characterized by airway obstruction and inflammation that is at least partially reversible with medication. The symptoms include coughing, wheezing, shortness of breath or rapid breathing, and chest tightness. DOID:9361 DOID:9363 ICD10CM:J45 ICD9CM:493.1 SNOMEDCT_US_2016_03_01:155576005 SNOMEDCT_US_2016_03_01:195973000 SNOMEDCT_US_2016_03_01:195976008 SNOMEDCT_US_2016_03_01:266361008 SNOMEDCT_US_2016_03_01:266397004 SNOMEDCT_US_2016_03_01:8312004 UMLS_CUI:C0155880 disease_ontology DOID:9360 intrinsic asthma An asthma that is triggered by factors not related to allergies such as anxiety, stress, exercise, cold air, dry air, hyperventilation, smoke, viruses, chemical irritants, autonomic imbalance, hormonal deficiencies and psychogenic influences. It is characterized by airway obstruction and inflammation that is at least partially reversible with medication. The symptoms include coughing, wheezing, shortness of breath or rapid breathing, and chest tightness. url:http://www.aafa.org/display.cfm?id=8&sub=17 url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1532783/pdf/califmed00272-0002b.pdf An asthma that is a life threatening condition with progressive respiratory failure, which does not respond to standard treatment. ICD9CM:493.91 MESH:D013224 NCI:C122577 SNOMEDCT_US_2016_03_01:155577001 SNOMEDCT_US_2016_03_01:195980003 SNOMEDCT_US_2016_03_01:266363006 SNOMEDCT_US_2016_03_01:36979006 SNOMEDCT_US_2016_03_01:57546000 SNOMEDCT_US_2016_03_01:708090002 UMLS_CUI:C0038218 Asthma with status asthmaticus Severe asthma attack disease_ontology DOID:9362 status asthmaticus An asthma that is a life threatening condition with progressive respiratory failure, which does not respond to standard treatment. url:http://www.ncbi.nlm.nih.gov/pubmed/11399724 Asthma with status asthmaticus SNOMEDCT_2005_07_31:57546000 Severe asthma attack SNOMEDCT_2005_07_31:195980003 ICD10CM:N49.0 ICD9CM:608.0 SNOMEDCT_US_2016_03_01:155935006 SNOMEDCT_US_2016_03_01:198043008 SNOMEDCT_US_2016_03_01:198044002 SNOMEDCT_US_2016_03_01:27001009 UMLS_CUI:C0042588 Seminal vesiculitis disease_ontology DOID:9365 vesiculitis Seminal vesiculitis ICD9CM_2006:608.0 DOID:9367 ICD10CM:H16.2 ICD10CM:H16.20 ICD9CM:370.40 MESH:D007637 NCI:C34744 SNOMEDCT_US_2016_03_01:155154005 SNOMEDCT_US_2016_03_01:193757003 SNOMEDCT_US_2016_03_01:193780006 SNOMEDCT_US_2016_03_01:88151007 UMLS_CUI:C0022573 disease_ontology DOID:9368 keratoconjunctivitis ICD10CM:H05.11 MESH:D016727 SNOMEDCT_US_2016_03_01:302901005 SNOMEDCT_US_2016_03_01:72789009 UMLS_CUI:C0085270 Pseudotumor of orbit orbital myositis disease_ontology DOID:9369 orbital plasma cell granuloma Pseudotumor of orbit MTHICD9_2006:376.11 orbital myositis ICD9CM_2006:376.12 A viral infectious disease that results_in infection, has_material_basis_in DNA viruses, which have DNA as their genetic material and replicate using a DNA-dependent DNA polymerase. disease_ontology DOID:937 DNA virus infectious disease true A viral infectious disease that results_in infection, has_material_basis_in DNA viruses, which have DNA as their genetic material and replicate using a DNA-dependent DNA polymerase. url:http://en.wikipedia.org/wiki/DNA_viruses An eye disease that is characterized by a bulging of the eye anteriorly out of the orbit. ICD10CM:H05.20 ICD9CM:376.30 MESH:D005094 NCI:C118763 NCI:C87114 SNOMEDCT_US_2016_03_01:155200004 SNOMEDCT_US_2016_03_01:18265008 SNOMEDCT_US_2016_03_01:267746003 UMLS_CUI:C0015300 proptosis disease_ontology DOID:9370 exophthalmos An eye disease that is characterized by a bulging of the eye anteriorly out of the orbit. url:http://en.wikipedia.org/wiki/Exophthalmos proptosis CSP2005:1114-8967 A kyphosis that has_material_basis_in slouching which results_in stretching of spinal ligament and abnormal formation located_in vertebra. disease_ontology DOID:9373 postural kyphosis true A kyphosis that has_material_basis_in slouching which results_in stretching of spinal ligament and abnormal formation located_in vertebra. url:http://en.wikipedia.org/wiki/Kyphosis url:http://www.allaboutbackpain.com/html/spine_thoracic/spine_thoracic_kyphosis2.html url:http://www.mayoclinic.com/health/kyphosis/DS00681/DSECTION=causes A syndrome that is a chronic unilateral (or rarely bilateral) iridocyclitis appearing with the triad of heterochromia, predisposition to cataracts and glaucoma, and keratitic percipitates on the posterior corneal surface. ICD10CM:H20.81 ICD9CM:364.21 SNOMEDCT_US_2016_03_01:11226001 UMLS_CUI:C0016782 Fuch's Heterochromic iridocyclitis Fuchs uveitis syndrome Fuchs' heterochromic cyclitis disease_ontology DOID:9375 Fuchs' heterochromic uveitis A syndrome that is a chronic unilateral (or rarely bilateral) iridocyclitis appearing with the triad of heterochromia, predisposition to cataracts and glaucoma, and keratitic percipitates on the posterior corneal surface. url:http://en.wikipedia.org/wiki/Fuchs_heterochromic_iridocyclitis url:www.uveitissociety.org/pages/diseases/fhu.pdf Fuchs uveitis syndrome SNOMEDCT_2005_07_31:11226001 Fuchs' heterochromic cyclitis ICD9CM_2006:364.21 Pigmentary iris degeneration Pigmentary iris degeneration (disorder) disease_ontology DOID:9377 pigment dispersion syndrome of iris true Pigmentary iris degeneration ICD9CM_2006:364.53 Pigmentary iris degeneration SNOMEDCT_2005_07_31:193506004 Pigmentary iris degeneration (disorder) SNOMEDCT_2005_07_31:70397008 ICD9CM:364.22 SNOMEDCT_US_2016_03_01:29538005 UMLS_CUI:C0152138 Terrien-Viel syndrome disease_ontology DOID:9378 glaucomatocyclitic crisis Glaucoma associated with ocular inflammations Glaucoma associated with ocular inflammations (disorder) disease_ontology DOID:9379 glaucoma with ocular inflammation true Glaucoma associated with ocular inflammations ICD9CM_2006:365.62 Glaucoma associated with ocular inflammations (disorder) SNOMEDCT_2005_07_31:37155002 DOID:9376 DOID:9380 ICD10CM:H20.01 ICD9CM:364.01 ICD9CM:364.2 SNOMEDCT_US_2016_03_01:12630008 SNOMEDCT_US_2016_03_01:193485000 SNOMEDCT_US_2016_03_01:193496008 UMLS_CUI:C0007832 UMLS_CUI:C0154909 primary iridocyclitis disease_ontology DOID:9383 iridocyclitis ICD10CM:A54.32 ICD9CM:098.41 SNOMEDCT_US_2016_03_01:186922002 SNOMEDCT_US_2016_03_01:9091006 UMLS_CUI:C0153212 disease_ontology DOID:9384 gonococcal iridocyclitis disease_ontology DOID:9385 gonococcal eye infectious disease true ICD10CM:H20.2 ICD9CM:364.23 SNOMEDCT_US_2016_03_01:70461003 UMLS_CUI:C0339320 Lens-induced iridocyclitis disease_ontology DOID:9388 lens-induced iridocyclitis Lens-induced iridocyclitis SNOMEDCT_2005_07_31:70461003 ICD10CM:H20.03 ICD9CM:364.03 SNOMEDCT_US_2016_03_01:193487008 SNOMEDCT_US_2016_03_01:89114005 UMLS_CUI:C0154911 Infectious secondary iridocyclitis secondary infected iridocyclitis secondary iridocyclitis, infectious disease_ontology DOID:9389 infectious anterior uveitis Infectious secondary iridocyclitis SNOMEDCT_2005_07_31:89114005 secondary infected iridocyclitis SNOMEDCT_2005_07_31:193487008 secondary iridocyclitis, infectious ICD9CM_2006:364.03 A tracheal disease which involves bacterial infection of the trachea often caused by Staphylococcus aureus and streptococci that follows a recent viral upper respiratory infection. The symptoms include barking croup cough, loud squeaking noise while breathing, scratchy feeling in the throat, high fever, and production of large amounts of pus-filled secretions. DOID:0050149 DOID:9391 ICD10CM:J04.1 ICD9CM:464.1 MESH:D014136 NCI:C78643 SNOMEDCT_US_2016_03_01:155507000 SNOMEDCT_US_2016_03_01:195693005 SNOMEDCT_US_2016_03_01:26650005 SNOMEDCT_US_2016_03_01:62994001 UMLS_CUI:C0040584 UMLS_CUI:C0149513 acute tracheitis chronic tracheitis disease_ontology DOID:9392 tracheitis A tracheal disease which involves bacterial infection of the trachea often caused by Staphylococcus aureus and streptococci that follows a recent viral upper respiratory infection. The symptoms include barking croup cough, loud squeaking noise while breathing, scratchy feeling in the throat, high fever, and production of large amounts of pus-filled secretions. url:http://www.merck.com/mmpe/sec19/ch277/ch277j.html?qt=tracheitis&alt=sh acute tracheitis ICD9CM_2006:464.1 SNOMEDCT_2005_07_31:155507000 A respiratory system infectious disease that involves inflammation, edema, and subsequent obstruction of the larynx, trachea, and bronchi. The disease is caused by viruses, bacteria, allergies and inhaled irritants. It is marked by episodes of difficult breathing and hoarse metallic cough in infants and young children. Croup is caused by parainfluenza virus (types 1 and 2), Influenza A and B viruses, Measles virus, adenovirus, respiratory syncytial virus, Staphylococcus and Streptococcus. ICD10CM:J05.0 ICD9CM:464.4 MESH:D003440 NCI:C26735 SNOMEDCT_US_2016_03_01:155510007 SNOMEDCT_US_2016_03_01:195702002 SNOMEDCT_US_2016_03_01:71186008 UMLS_CUI:C0010380 Croup syndrome Laryngotracheobronchitis acute Obstructive Laryngitis acute laryngotracheobronchitis disease_ontology DOID:9395 croup A respiratory system infectious disease that involves inflammation, edema, and subsequent obstruction of the larynx, trachea, and bronchi. The disease is caused by viruses, bacteria, allergies and inhaled irritants. It is marked by episodes of difficult breathing and hoarse metallic cough in infants and young children. Croup is caused by parainfluenza virus (types 1 and 2), Influenza A and B viruses, Measles virus, adenovirus, respiratory syncytial virus, Staphylococcus and Streptococcus. url:http://books.google.com/books?id=G6k0tpPMRsIC&pg=PA254&lpg=PA254&dq#v=onepage&q=&f=false url:http://www.nlm.nih.gov/medlineplus/ency/article/000959.htm url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=croup Croup syndrome MTHICD9_2006:464.4 acute Obstructive Laryngitis NCI2004_11_17:C26735 acute laryngotracheobronchitis SNOMEDCT_2005_07_31:195702002 A laryngitis which lasts less than a few days. DOID:12334 ICD10CM:J04.0 ICD9CM:464.0 ICD9CM:464.01 NCI:C26688 SNOMEDCT_US_2016_03_01:155506009 SNOMEDCT_US_2016_03_01:195690008 SNOMEDCT_US_2016_03_01:408669002 SNOMEDCT_US_2016_03_01:6655004 UMLS_CUI:C0001327 UMLS_CUI:C0949123 disease_ontology DOID:9396 acute laryngitis A laryngitis which lasts less than a few days. url:http://en.wikipedia.org/wiki/Laryngitis An upper respiratory tract disease which involves inflammation of the epiglottis due to infection. Haemophilus influenzae type B is the most common bacterial causative agent, although some cases are attributable to Streptococcus pneumoniae or Streptococcus pyogenes. The infection can cause the epiglottis to either obstruct or completely close off the windpipe. Epiglottitis typically affects children, and is associated with fever, difficulty in swallowing, drooling, hoarseness of voice, and stridor. DOID:9397 DOID:9479 DOID:9481 ICD10CM:J05.1 ICD10CM:J05.10 ICD9CM:464.3 MESH:D004826 NCI:C116007 SNOMEDCT_US_2016_03_01:155509002 SNOMEDCT_US_2016_03_01:195701009 SNOMEDCT_US_2016_03_01:29608009 SNOMEDCT_US_2016_03_01:80384002 UMLS_CUI:C0014541 UMLS_CUI:C0155814 acute epiglottitis acute epiglottitis and supraglottitis disease_ontology DOID:9398 epiglottitis An upper respiratory tract disease which involves inflammation of the epiglottis due to infection. Haemophilus influenzae type B is the most common bacterial causative agent, although some cases are attributable to Streptococcus pneumoniae or Streptococcus pyogenes. The infection can cause the epiglottis to either obstruct or completely close off the windpipe. Epiglottitis typically affects children, and is associated with fever, difficulty in swallowing, drooling, hoarseness of voice, and stridor. url:http://en.wikipedia.org/wiki/Epiglottitis acute epiglottitis SNOMEDCT_2005_07_31:29608009 acute epiglottitis and supraglottitis SNOMEDCT_2005_07_31:155509002 ICD10CM:N45 ICD10CM:N45.3 ICD9CM:604 ICD9CM:604.90 SNOMEDCT_US_2016_03_01:155913003 SNOMEDCT_US_2016_03_01:155915005 SNOMEDCT_US_2016_03_01:155917002 SNOMEDCT_US_2016_03_01:197983000 SNOMEDCT_US_2016_03_01:198001001 SNOMEDCT_US_2016_03_01:198003003 SNOMEDCT_US_2016_03_01:198004009 SNOMEDCT_US_2016_03_01:24084007 UMLS_CUI:C0149881 disease_ontology DOID:9401 epididymo-orchitis ICD10CM:N45.1 MESH:D004823 SNOMEDCT_US_2016_03_01:155914009 SNOMEDCT_US_2016_03_01:197993007 SNOMEDCT_US_2016_03_01:197998003 SNOMEDCT_US_2016_03_01:31070006 UMLS_CUI:C0014534 disease_ontology DOID:9402 epididymitis disease_ontology DOID:9403 isolated explosive disorder true Dwarfism: [pituitary] or [hypophyseal (& Lorain-Levi)] Lorain - Levi dwarfism hypopituitary dwarfism disease_ontology DOID:9405 pituitary dwarfism true Dwarfism: [pituitary] or [hypophyseal (& Lorain-Levi)] SNOMEDCT_2005_07_31:190476004 Lorain - Levi dwarfism SNOMEDCT_2005_07_31:302867007 hypopituitary dwarfism CSP2005:2715-1517 A pituitary gland disease characterized by the decreased secretion of one or more of the eight hormones normally produced by the pituitary gland. ICD10CM:E23.0 MESH:D007018 NCI:C62591 OMIM:221750 OMIM:262600 OMIM:262700 OMIM:613038 OMIM:613986 ORDO:95494 SNOMEDCT_US_2016_03_01:154703006 SNOMEDCT_US_2016_03_01:190469009 SNOMEDCT_US_2016_03_01:237681002 SNOMEDCT_US_2016_03_01:267482009 SNOMEDCT_US_2016_03_01:74728003 UMLS_CUI:C0020635 Pituitary insufficiency pituitary hormone deficiency disease_ontology Pituitary hypofunction DOID:9406 Xref MGI. hypopituitarism A pituitary gland disease characterized by the decreased secretion of one or more of the eight hormones normally produced by the pituitary gland. url:http://en.wikipedia.org/wiki/Hypopituitarism Pituitary insufficiency MTHICD9_2006:253.2 Pituitary hypofunction SNOMEDCT_2005_07_31:154703006 ICD9CM:410.60 UMLS_CUI:C0155652 disease_ontology DOID:9407 strictly posterior acute myocardial infarction ICD10CM:I21.3 ICD9CM:410 ICD9CM:410.9 ICD9CM:410.90 NCI:C35204 SNOMEDCT_US_2016_03_01:155304006 SNOMEDCT_US_2016_03_01:194796000 SNOMEDCT_US_2016_03_01:194811003 SNOMEDCT_US_2016_03_01:266288001 SNOMEDCT_US_2016_03_01:57054005 UMLS_CUI:C0155626 disease_ontology DOID:9408 acute myocardial infarction ICD10CM:E23.2 ICD9CM:253.5 MESH:D003919 NCI:C43263 SNOMEDCT_US_2016_03_01:15771004 SNOMEDCT_US_2016_03_01:190484000 UMLS_CUI:C0011848 disease_ontology DOID:9409 diabetes insipidus ICD10CM:E23.0 ICD9CM:253.2 MESH:C580003 NCI:C110940 SNOMEDCT_US_2016_03_01:154700009 SNOMEDCT_US_2016_03_01:190469009 SNOMEDCT_US_2016_03_01:190475000 SNOMEDCT_US_2016_03_01:267481002 SNOMEDCT_US_2016_03_01:32390006 UMLS_CUI:C0242343 Panhypopituitarism (disorder) Panhypopituitarism NOS (disorder) Simmond's disease Simmonds' disease disease_ontology DOID:9410 panhypopituitarism Panhypopituitarism (disorder) SNOMEDCT_2005_07_31:32390006 Panhypopituitarism NOS (disorder) SNOMEDCT_2005_07_31:190475000 Simmond's disease SNOMEDCT_2005_07_31:190469009 Simmonds' disease CSP2005:2335-9587 Simmonds' disease MTHICD9_2006:253.2 Gonococcal endocarditis (disorder) disease_ontology DOID:9411 gonococcal endocarditis true Gonococcal endocarditis (disorder) SNOMEDCT_2005_07_31:61048000 disease_ontology DOID:9413 Congenital abnormalities of uterus complicating pregnancy, childbirth, or the puerperium true disease_ontology DOID:9414 abnormality of organs and soft tissues of pelvis complicating pregnancy, childbirth, or the puerperium true An asthma that is characterized by symptoms that are triggered by an allergic reaction caused by inhaled allergens such as dust mite allergen, pet dander, pollen and mold. Allergic asthma is airway obstruction and inflammation that is partially reversible with medication. The disease has_symptom coughing, has_symptom wheezing, has_symptom shortness of breath or has_symptom rapid breathing, and has_symptom chest tightness. DOID:9416 DOID:9417 ICD10CM:J45 ICD9CM:493.0 SNOMEDCT_US_2016_03_01:155575009 SNOMEDCT_US_2016_03_01:16862005 SNOMEDCT_US_2016_03_01:195968006 SNOMEDCT_US_2016_03_01:195972005 SNOMEDCT_US_2016_03_01:233680000 SNOMEDCT_US_2016_03_01:266358007 SNOMEDCT_US_2016_03_01:266396008 SNOMEDCT_US_2016_03_01:389145006 SNOMEDCT_US_2016_03_01:389146007 UMLS_CUI:C0155877 extrinsic asthma with acute exacerbation extrinsic asthma with status asthmaticus disease_ontology atopic asthma DOID:9415 allergic asthma An asthma that is characterized by symptoms that are triggered by an allergic reaction caused by inhaled allergens such as dust mite allergen, pet dander, pollen and mold. Allergic asthma is airway obstruction and inflammation that is partially reversible with medication. The disease has_symptom coughing, has_symptom wheezing, has_symptom shortness of breath or has_symptom rapid breathing, and has_symptom chest tightness. url:http://www.aafa.org/display.cfm?id=8&sub=16 abscess of eyelid (disorder) disease_ontology DOID:9422 abscess of eyelid true abscess of eyelid (disorder) SNOMEDCT_2005_07_31:76126009 An eyelid disease that is characterized by often chronic inflammation of the eyelid, generally the part where eyelashes grow. DOID:13824 ICD10CM:H01.0 ICD10CM:H01.00 ICD10CM:H01.9 ICD9CM:373.0 ICD9CM:373.00 ICD9CM:373.4 ICD9CM:373.9 MESH:D001762 NCI:C112183 SNOMEDCT_US_2016_03_01:155170007 SNOMEDCT_US_2016_03_01:155171006 SNOMEDCT_US_2016_03_01:155175002 SNOMEDCT_US_2016_03_01:193907001 SNOMEDCT_US_2016_03_01:193908006 SNOMEDCT_US_2016_03_01:193909003 SNOMEDCT_US_2016_03_01:193910008 SNOMEDCT_US_2016_03_01:193920003 SNOMEDCT_US_2016_03_01:193925008 SNOMEDCT_US_2016_03_01:396712002 SNOMEDCT_US_2016_03_01:41446000 UMLS_CUI:C0005741 UMLS_CUI:C0155181 disease_ontology DOID:9423 blepharitis An eyelid disease that is characterized by often chronic inflammation of the eyelid, generally the part where eyelashes grow. url:http://en.wikipedia.org/wiki/Blepharitis A pulmonary tuberculosis characterized by bronchial compression and obstruction as a result of enlarged lymph nodes of the primary complex or by infiltration of the wall of the bronchi by caseous lymph nodes. disease_ontology DOID:9426 tuberculous bronchiectasis true A pulmonary tuberculosis characterized by bronchial compression and obstruction as a result of enlarged lymph nodes of the primary complex or by infiltration of the wall of the bronchi by caseous lymph nodes. url:http://chestjournal.chestpubs.org/content/22/1/46.full.pdf ICD10CM:I67.4 ICD9CM:437.2 MESH:D020343 NCI:C3503 SNOMEDCT_US_2016_03_01:155408008 SNOMEDCT_US_2016_03_01:195225002 SNOMEDCT_US_2016_03_01:50490005 UMLS_CUI:C0151620 disease_ontology DOID:9427 hypertensive encephalopathy MESH:D019586 NCI:C84791 SNOMEDCT_US_2016_03_01:155052007 SNOMEDCT_US_2016_03_01:267701004 SNOMEDCT_US_2016_03_01:271719001 SNOMEDCT_US_2016_03_01:28073009 UMLS_CUI:C0151740 Raised intracranial pressure disease_ontology DOID:9428 intracranial hypertension Raised intracranial pressure SNOMEDCT_2005_07_31:271719001 ICD10CM:E74.8 ICD9CM:271.4 MESH:D006030 OMIM:233100 SNOMEDCT_US_2016_03_01:154737003 SNOMEDCT_US_2016_03_01:190759004 SNOMEDCT_US_2016_03_01:1913007 SNOMEDCT_US_2016_03_01:236367002 SNOMEDCT_US_2016_03_01:267430007 SNOMEDCT_US_2016_03_01:367418000 UMLS_CUI:C0017980 renal diabetes disease_ontology DOID:9432 OMIM mapping confirmed by DO. [SN]. renal glycosuria renal diabetes MTHICD9_2006:271.4 NCI:C35335 SNOMEDCT_US_2016_03_01:71912000 UMLS_CUI:C0267918 disease_ontology DOID:9439 chronic cholangitis NCI:C40215 UMLS_CUI:C1516427 cervical Muellerian papilloma disease_ontology DOID:9442 cervical Mullerian papilloma disease_ontology DOID:9443 cervix blue nevus true NCI:C6342 UMLS_CUI:C1336900 squamous papilloma of the Cervix Uteri disease_ontology DOID:9445 cervix squamous papilloma squamous papilloma of the Cervix Uteri NCI2004_11_17:C6342 A bile duct disease that is an inflammation of the bile duct. ICD10CM:K83.0 ICD9CM:576.1 MESH:D002761 NCI:C26718 SNOMEDCT_US_2016_03_01:155831003 SNOMEDCT_US_2016_03_01:197445007 SNOMEDCT_US_2016_03_01:82403002 UMLS_CUI:C0008311 disease_ontology DOID:9446 cholangitis A bile duct disease that is an inflammation of the bile duct. url:http://en.wikipedia.org/wiki/Cholangitis DOID:11281 DOID:12523 DOID:12963 DOID:13600 DOID:1437 DOID:1438 DOID:1879 DOID:1880 disease_ontology DOID:9450 infectious disease of the breast and nipple associated with childbirth true A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in liver cells via the process of steatosis. DOID:9451 ICD10CM:K70.0 ICD9CM:571.0 MESH:D005234 MESH:D005235 OMIM:228100 SNOMEDCT_US_2016_03_01:197321007 SNOMEDCT_US_2016_03_01:371330000 SNOMEDCT_US_2016_03_01:390002007 SNOMEDCT_US_2016_03_01:50325005 SNOMEDCT_US_2016_03_01:5360002 UMLS_CUI:C0015695 UMLS_CUI:C0015696 Fatty change of liver Steatosis of liver (disorder) alcoholic fatty liver hepatic lipidosis disease_ontology DOID:9452 PRISM. fatty liver disease A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in liver cells via the process of steatosis. url:http://en.wikipedia.org/wiki/Fatty_liver Fatty change of liver SNOMEDCT_2005_07_31:390002007 Steatosis of liver (disorder) SNOMEDCT_2005_07_31:197321007 hepatic lipidosis SNOMEDCT_2005_07_31:5360002 A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues. DOID:10583 ICD10CM:E75.6 ICD9CM:272.7 ICD9CM:272.8 MESH:D008064 SNOMEDCT_US_2016_03_01:10741005 SNOMEDCT_US_2016_03_01:11455007 SNOMEDCT_US_2016_03_01:154744007 SNOMEDCT_US_2016_03_01:190792005 SNOMEDCT_US_2016_03_01:190797004 SNOMEDCT_US_2016_03_01:190798009 SNOMEDCT_US_2016_03_01:190805007 SNOMEDCT_US_2016_03_01:267437005 SNOMEDCT_US_2016_03_01:267438000 UMLS_CUI:C0023794 UMLS_CUI:C0029591 Lipoid storage diseas Lipoidosis inborn lipid storage disorder lipoidosis disease_ontology DOID:9455 lipid storage disease A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues. url:http://en.wikipedia.org/wiki/Lipidoses Lipoid storage diseas MTHICD9_2006:272.7 Lipoidosis SNOMEDCT_2005_07_31:11455007 inborn lipid storage disorder CSP2005:1849-5707 ICD9CM:182.1 UMLS_CUI:C0153575 disease_ontology DOID:9459 isthmus cancer A parasitic protozoa infectious disease that involves infection of the large intestine by a protozoan parasite Dientamoeba fragilis. The symptoms include diarrhea, stomach pain and cramping, loss of appetite and weight, nausea, and fatigue. DOID:13792 MESH:D004030 UMLS_CUI:C0012147 intestinal trichomoniasis disease_ontology DOID:946 dientamoebiasis A parasitic protozoa infectious disease that involves infection of the large intestine by a protozoan parasite Dientamoeba fragilis. The symptoms include diarrhea, stomach pain and cramping, loss of appetite and weight, nausea, and fatigue. url:http://www.cdc.gov/ncidod/dpd/parasites/dientamoeba/factsht_dientamoeba.htm A uterine cancer that is located_in the uterine corpus. ICD10CM:C54 ICD10CM:C54.9 ICD9CM:182 NCI:C3556 SNOMEDCT_US_2016_03_01:154526001 SNOMEDCT_US_2016_03_01:188194001 SNOMEDCT_US_2016_03_01:188200009 SNOMEDCT_US_2016_03_01:269600001 SNOMEDCT_US_2016_03_01:363442002 SNOMEDCT_US_2016_03_01:371972005 SNOMEDCT_US_2016_03_01:93718007 UMLS_CUI:C0153574 corpus uteri cancer disease_ontology DOID:9460 uterine corpus cancer A uterine cancer that is located_in the uterine corpus. url:http://en.wikipedia.org/wiki/Uterine_cancer url:http://en.wikipedia.org/wiki/Uterus ICD10CM:H16.21 ICD9CM:370.34 SNOMEDCT_US_2016_03_01:14366000 UMLS_CUI:C0339295 Exposure keratoconjunctivitis lagophthalmic keratitis disease_ontology DOID:9461 exposure keratitis Exposure keratoconjunctivitis ICD9CM_2006:370.34 lagophthalmic keratitis SNOMEDCT_2005_07_31:14366000 A cholesteatoma which involves invasion of the squamous tissue into a localized area of bony erosion of the ear canal. It may develop spontaneously or as a consequence of infection, trauma or surgery. ICD10CM:H60.4 ICD10CM:H60.40 ICD9CM:380.21 SNOMEDCT_US_2016_03_01:35247001 UMLS_CUI:C0155398 external canal cholesteatoma disease_ontology DOID:9462 cholesteatoma of external ear A cholesteatoma which involves invasion of the squamous tissue into a localized area of bony erosion of the ear canal. It may develop spontaneously or as a consequence of infection, trauma or surgery. url:http://www.ncbi.nlm.nih.gov/sites/entrez/10993445 url:http://www.ncbi.nlm.nih.gov/sites/entrez/15763298 An external ear disease that involves inflammation of the outer ear and ear canal. It can be caused by active bacterial or fungal infections. DOID:9785 ICD9CM:380.1 ICD9CM:380.10 MESH:D010032 NCI:C3299 SNOMEDCT_US_2016_03_01:194198006 SNOMEDCT_US_2016_03_01:194199003 SNOMEDCT_US_2016_03_01:194214000 SNOMEDCT_US_2016_03_01:267752002 SNOMEDCT_US_2016_03_01:3135009 SNOMEDCT_US_2016_03_01:86981007 UMLS_CUI:C0021355 swimmer's ear disease_ontology DOID:9463 otitis externa An external ear disease that involves inflammation of the outer ear and ear canal. It can be caused by active bacterial or fungal infections. url:http://en.wikipedia.org/wiki/Otitis_externa ICD10CM:Q87.2 MESH:D009261 NCI:C75120 OMIM:161200 SNOMEDCT_US_2016_03_01:22199006 UMLS_CUI:C0027341 Fong disease Turner-Kiser syndrome hereditary onychoostedysplasia iliac horn syndrome nail patella syndrome disease_ontology DOID:9467 OMIM mapping confirmed by DO. [SN]. nail-patella syndrome nail patella syndrome CSP2005:0726-3953 disease_ontology DOID:9468 Salmonella meningitis true ICD10CM:G00 ICD10CM:G00.9 ICD9CM:320 ICD9CM:320.9 MESH:D016920 NCI:C118297 SNOMEDCT_US_2016_03_01:154984006 SNOMEDCT_US_2016_03_01:192662001 SNOMEDCT_US_2016_03_01:267680008 SNOMEDCT_US_2016_03_01:95883001 UMLS_CUI:C0085437 disease_ontology DOID:9470 bacterial meningitis A central nervous system disease that is characterized by an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. DOID:9712 ICD10CM:G03 ICD10CM:G03.9 ICD9CM:322 ICD9CM:322.9 MESH:D008581 NCI:C26828 SNOMEDCT_US_2016_03_01:154983000 SNOMEDCT_US_2016_03_01:192678004 SNOMEDCT_US_2016_03_01:192681009 SNOMEDCT_US_2016_03_01:7180009 UMLS_CUI:C0025289 disease_ontology DOID:9471 meningitis A central nervous system disease that is characterized by an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. url:http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=mmed.section.5162 ICD9CM:355 ICD9CM:355.8 SNOMEDCT_US_2016_03_01:155075000 SNOMEDCT_US_2016_03_01:193154003 SNOMEDCT_US_2016_03_01:62235007 UMLS_CUI:C0154747 disease_ontology DOID:9473 mononeuritis of lower limb ICD10CM:E23.0 MESH:D007018 NCI:C35300 SNOMEDCT_US_2016_03_01:15045007 SNOMEDCT_US_2016_03_01:154703006 SNOMEDCT_US_2016_03_01:190469009 SNOMEDCT_US_2016_03_01:237684005 SNOMEDCT_US_2016_03_01:267482009 SNOMEDCT_US_2016_03_01:290653008 SNOMEDCT_US_2016_03_01:32390006 UMLS_CUI:C0242342 Postpartum Hypopituitarism Sheehan's syndrome disease_ontology DOID:9476 Sheehan syndrome Postpartum Hypopituitarism NCI2004_11_17:C35300 Sheehan's syndrome SNOMEDCT_2005_07_31:154703006 An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body, e.g. a blood clot. ICD10CM:I26 ICD10CM:I26.99 MESH:D011655 NCI:C50713 SNOMEDCT_US_2016_03_01:155326007 SNOMEDCT_US_2016_03_01:194882001 SNOMEDCT_US_2016_03_01:266292008 SNOMEDCT_US_2016_03_01:59282003 UMLS_CUI:C0034065 pulmonary artery embolism pulmonary embolus disease_ontology DOID:9477 PRISM. pulmonary embolism An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body, e.g. a blood clot. url:http://en.wikipedia.org/wiki/Pulmonary_embolism url:http://www.nlm.nih.gov/medlineplus/pulmonaryembolism.html pulmonary artery embolism MTHICD9_2006:415.1 An endogenous depression that involves intense, sustained and sometimes disabling depression experienced by women after giving birth. ICD10CM:F53 MESH:D019052 NCI:C92852 SNOMEDCT_US_2016_03_01:147016002 SNOMEDCT_US_2016_03_01:154889000 SNOMEDCT_US_2016_03_01:191740008 SNOMEDCT_US_2016_03_01:192475007 SNOMEDCT_US_2016_03_01:268753005 SNOMEDCT_US_2016_03_01:58703003 UMLS_CUI:C0221074 Maternity blues postnatal depression disease_ontology DOID:9478 postpartum depression An endogenous depression that involves intense, sustained and sometimes disabling depression experienced by women after giving birth. url:http://en.wikipedia.org/wiki/Mood_disorder Maternity blues SNOMEDCT_2005_07_31:279225001 postnatal depression CSP2005:5003-0032 ICD10CM:H01.01 ICD9CM:373.01 SNOMEDCT_US_2016_03_01:91662004 UMLS_CUI:C0155173 disease_ontology DOID:9483 ulcerative blepharitis ICD10CM:Q43.0 ICD9CM:751.0 MESH:D008467 NCI:C12264 OMIM:155140 SNOMEDCT_US_2016_03_01:127962001 SNOMEDCT_US_2016_03_01:156955000 SNOMEDCT_US_2016_03_01:204685004 SNOMEDCT_US_2016_03_01:204686003 SNOMEDCT_US_2016_03_01:204689005 SNOMEDCT_US_2016_03_01:204690001 SNOMEDCT_US_2016_03_01:253775007 SNOMEDCT_US_2016_03_01:264256006 SNOMEDCT_US_2016_03_01:37373007 UMLS_CUI:C0025037 Meckel Diverticulum Persistent vitelline duct disease_ontology DOID:9487 OMIM mapping confirmed by DO. [SN]. Meckel's diverticulum Meckel Diverticulum NCI2004_11_17:C12264 Persistent vitelline duct MTHICD9_2006:751.0 ICD10CM:H04.02 ICD9CM:375.02 SNOMEDCT_US_2016_03_01:4760008 UMLS_CUI:C0155224 disease_ontology DOID:949 chronic dacryoadenitis ICD9CM:386.53 SNOMEDCT_US_2016_03_01:194374008 SNOMEDCT_US_2016_03_01:81585005 UMLS_CUI:C0155517 disease_ontology DOID:9496 unilateral hypoactive labyrinth ICD9CM:518.3 MESH:D011657 SNOMEDCT_US_2016_03_01:155623005 SNOMEDCT_US_2016_03_01:196145005 SNOMEDCT_US_2016_03_01:196147002 SNOMEDCT_US_2016_03_01:367542003 SNOMEDCT_US_2016_03_01:91053000 UMLS_CUI:C0034068 disease_ontology DOID:9498 pulmonary eosinophilia SNOMEDCT_US_2016_03_01:26328002 SNOMEDCT_US_2016_03_01:423486005 UMLS_CUI:C0263662 disease_ontology DOID:9499 disseminated eosinophilic collagen disease ICD10CM:H04.0 ICD10CM:H04.00 ICD9CM:375.0 ICD9CM:375.00 MESH:D003607 NCI:C26971 SNOMEDCT_US_2016_03_01:193971001 SNOMEDCT_US_2016_03_01:193973003 SNOMEDCT_US_2016_03_01:86927009 UMLS_CUI:C0155223 disease_ontology DOID:950 dacryoadenitis ICD10CM:D72.9 ICD9CM:288 ICD9CM:288.9 MESH:D007960 SNOMEDCT_US_2016_03_01:154829002 SNOMEDCT_US_2016_03_01:191369001 SNOMEDCT_US_2016_03_01:54097007 UMLS_CUI:C0023510 disease_ontology DOID:9500 leukocyte disease An eosinophilic pneumonia which slowly progresses over weeks to months. Life-threatening shortness of breath can develop if the condition is not treated. Individuals are often diagnosed with asthma before the advent of this disease. NCI:C34471 SNOMEDCT_US_2016_03_01:233692000 UMLS_CUI:C0008680 Cryptogenic pulmonary eosinophilia disease_ontology DOID:9502 chronic eosinophilic pneumonia An eosinophilic pneumonia which slowly progresses over weeks to months. Life-threatening shortness of breath can develop if the condition is not treated. Individuals are often diagnosed with asthma before the advent of this disease. url:http://www.merck.com/mmhe/print/sec04/ch051/ch051c.html url:http://www.merck.com/mmpe/sec05/ch055/ch055d.html#sec05-ch055-ch055d-849 Cryptogenic pulmonary eosinophilia SNOMEDCT_2005_07_31:233692000 An eosinophilic pneumonia described as a form of pulmonary eosinophilia characterized as a mild pneumonitis marked by transitory pulmonary infiltration and eosinophilia and usually considered to be an allergic reaction. It can occur in response to a parasitic infection. ICD10CM:J82 MESH:D011657 NCI:C35301 SNOMEDCT_US_2016_03_01:123261002 SNOMEDCT_US_2016_03_01:64936001 UMLS_CUI:C0242459 Loeffler's pneumonia Loffler's syndrome disease_ontology DOID:9503 Loeffler syndrome An eosinophilic pneumonia described as a form of pulmonary eosinophilia characterized as a mild pneumonitis marked by transitory pulmonary infiltration and eosinophilia and usually considered to be an allergic reaction. It can occur in response to a parasitic infection. url:http://en.wikipedia.org/wiki/L%C3%B6ffler%27s_syndrome url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Loeffler%27s%20syndrome Loffler's syndrome MTHICD9_2006:518.3 ICD9CM:610.8 UMLS_CUI:C0156319 disease_ontology DOID:9504 benign mammary dysplasia A substance abuse that involves the recurring use of cannabis despite negative consequences. DOID:2525 ICD10CM:F12 ICD10CM:F12.1 ICD9CM:305.2 MESH:D002189 SNOMEDCT_US_2016_03_01:268769003 SNOMEDCT_US_2016_03_01:37344009 UMLS_CUI:C0006868 UMLS_CUI:C0024809 marijuana abuse disease_ontology DOID:9505 cannabis abuse A substance abuse that involves the recurring use of cannabis despite negative consequences. url:http://en.wikipedia.org/wiki/Cannabis_%28drug%29 marijuana abuse CSP2005:0962-7919 A ethmoid sinusitis which lasts for less than 4 weeks. ICD10CM:J01.2 ICD10CM:J01.20 ICD9CM:461.2 SNOMEDCT_US_2016_03_01:155501004 SNOMEDCT_US_2016_03_01:266378004 SNOMEDCT_US_2016_03_01:67832005 UMLS_CUI:C0155806 acute ethmoid sinusitis acute ethmoidal sinusitis ethmoidal sinus - acute disease_ontology DOID:9506 acute ethmoiditis A ethmoid sinusitis which lasts for less than 4 weeks. url:http://en.wikipedia.org/wiki/sinusitis url:http://www.merck.com/mmhe/sec19/ch221/ch221i.html acute ethmoidal sinusitis ICD9CM_2006:461.2 ethmoidal sinus - acute SNOMEDCT_2005_07_31:266378004 A sinusitis which involves infection of ethmoid sinuses that causes pain or pressure behind and between the eyes, tearing, and headache over the forehead. ICD10CM:J32.2 MESH:D015521 NCI:C34597 SNOMEDCT_US_2016_03_01:18643000 UMLS_CUI:C0015029 ethmoidal sinusitis ethmoiditis disease_ontology DOID:9507 ethmoid sinusitis A sinusitis which involves infection of ethmoid sinuses that causes pain or pressure behind and between the eyes, tearing, and headache over the forehead. url:http://en.wikipedia.org/wiki/sinusitis url:http://www.merck.com/mmhe/sec19/ch221/ch221i.html ethmoidal sinusitis NCI2004_11_17:C34597 Toxic muscle disease disease_ontology DOID:951 toxic myopathy true Toxic muscle disease SNOMEDCT_2005_07_31:155097003 ICD10CM:H10.42 ICD9CM:372.11 SNOMEDCT_US_2016_03_01:193866007 SNOMEDCT_US_2016_03_01:8211008 UMLS_CUI:C0155146 disease_ontology DOID:9512 simple chronic conjunctivitis ICD10CM:C90.1 ICD10CM:C90.10 ICD9CM:203.1 MESH:D007952 NCI:C3180 SNOMEDCT_US_2016_03_01:128922003 SNOMEDCT_US_2016_03_01:154586003 SNOMEDCT_US_2016_03_01:188722001 SNOMEDCT_US_2016_03_01:190038002 SNOMEDCT_US_2016_03_01:190039005 SNOMEDCT_US_2016_03_01:269630009 SNOMEDCT_US_2016_03_01:39193004 SNOMEDCT_US_2016_03_01:95210003 UMLS_CUI:C0023484 disease_ontology DOID:9513 plasmacytic leukemia disease_ontology DOID:9514 multiple myeloma and immunoproliferative neoplasm true disease_ontology DOID:9518 abortion complicated by renal failure true ICD10CM:H04.01 ICD9CM:375.01 SNOMEDCT_US_2016_03_01:2589008 UMLS_CUI:C0149505 disease_ontology DOID:952 acute dacryoadenitis ICD10CM:E34.3 MESH:D046150 OMIM:262500 SNOMEDCT_US_2016_03_01:38196001 UMLS_CUI:C0271568 Laron-type isolated somatotropin defect (disorder) disease_ontology DOID:9521 OMIM mapping confirmed by DO. [SN]. Laron syndrome Laron-type isolated somatotropin defect (disorder) SNOMEDCT_2005_07_31:38196001 disease_ontology DOID:9528 acute renal failure with lesion of renal medullary necrosis true disease_ontology DOID:9530 Rhesus isoimmunisation affecting management of mother true A syphilis that is characterized as having serologic proof of infection without signs or symptoms of disease. DOID:12912 DOID:12913 DOID:9492 ICD10CM:A53.0 ICD9CM:097.1 MESH:D013592 NCI:C35056 SNOMEDCT_US_2016_03_01:186906003 SNOMEDCT_US_2016_03_01:444150000 UMLS_CUI:C0039133 disease_ontology DOID:9531 latent syphilis A syphilis that is characterized as having serologic proof of infection without signs or symptoms of disease. url:http://en.wikipedia.org/wiki/Syphilis#Latent_syphilis A pneumothorax in which air enters into the pleural cavity. ICD10CM:A15.0 ICD9CM:011.7 ICD9CM:011.70 SNOMEDCT_US_2016_03_01:29731002 UMLS_CUI:C0152600 disease_ontology DOID:9534 tuberculous pneumothorax A pneumothorax in which air enters into the pleural cavity. url:http://books.google.com/books?id=9QcpAAAAYAAJ&pg=PA492&lpg#v=onepage&q=&f=false A viral infectious disease that involves fever and bleeding disorder caused by Arenavirus. DOID:4185 american hemorrhagic fever arenaviral hemorrhagic fever disease_ontology DOID:9535 Arenavirus hemorrhagic fever true A viral infectious disease that involves fever and bleeding disorder caused by Arenavirus. url:http://en.wikipedia.org/wiki/Hemorrhagic_fever url:http://jama.ama-assn.org/cgi/reprint/287/18/2391 A viral infectious disease that results_in infection, has_material_basis_in Lassa virus, which is transmitted_by multimammate rat of the genus Mastomys. The infection has_symptom fever, has_symptom retrosternal pain, has_symptom sore throat, has_symptom back pain, has_symptom cough, has_symptom abdominal pain, has_symptom vomiting, has_symptom diarrhea, has_symptom conjunctivitis, has_symptom facial swelling, has_symptom proteinuria (protein in the urine), and has_symptom mucosal bleeding. ICD10CM:A96.2 MESH:D007835 SNOMEDCT_US_2016_03_01:19065005 UMLS_CUI:C0023092 disease_ontology DOID:9537 Lassa fever A viral infectious disease that results_in infection, has_material_basis_in Lassa virus, which is transmitted_by multimammate rat of the genus Mastomys. The infection has_symptom fever, has_symptom retrosternal pain, has_symptom sore throat, has_symptom back pain, has_symptom cough, has_symptom abdominal pain, has_symptom vomiting, has_symptom diarrhea, has_symptom conjunctivitis, has_symptom facial swelling, has_symptom proteinuria (protein in the urine), and has_symptom mucosal bleeding. url:http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/lassaf.htm A myeloid neoplasm that is located_in the plasma cells in bone marrow. EFO:0001378 ICD10CM:C90.0 ICD10CM:C90.00 ICD9CM:203.0 MESH:D009101 NCI:C3242 OMIM:254500 SNOMEDCT_US_2016_03_01:109989006 SNOMEDCT_US_2016_03_01:154585004 SNOMEDCT_US_2016_03_01:55921005 SNOMEDCT_US_2016_03_01:94705007 UMLS_CUI:C0026764 plasma cell myeloma disease_ontology DOID:9538 OMIM mapping confirmed by DO. [SN]. multiple myeloma A myeloid neoplasm that is located_in the plasma cells in bone marrow. url:http://en.wikipedia.org/wiki/Multiple_myeloma url:http://www.cancer.gov/dictionary?CdrID=411384 ICD9CM:709.1 MESH:D017445 NCI:C35254 SNOMEDCT_US_2016_03_01:11263005 SNOMEDCT_US_2016_03_01:201306008 SNOMEDCT_US_2016_03_01:267820009 UMLS_CUI:C0162819 disease_ontology DOID:9540 vascular skin disease SNOMEDCT_US_2016_03_01:42215000 SNOMEDCT_US_2016_03_01:425657001 UMLS_CUI:C1510415 disease_ontology DOID:9541 osteosclerotic myeloma disease_ontology DOID:9543 plasma cell myeloma PTLD true NCI:C7024 NCI:C7813 UMLS_CUI:C0278620 disease_ontology DOID:9544 refractory plasma cell neoplasm disease_ontology DOID:9545 recurrent plasma cell neoplasm true SNOMEDCT_US_2016_03_01:277580004 UMLS_CUI:C0456845 disease_ontology DOID:9547 non-secretory myeloma UMLS_CUI:C0854906 disease_ontology DOID:955 benign neurilemmoma UMLS_CUI:C1334169 disease_ontology DOID:9550 indolent myeloma A multiple myeloma that is a slow growing type of myeloma in which abnormal plasma cells results_in too much of a single type of monoclonal antibody. disease_ontology DOID:9551 smoldering myeloma A multiple myeloma that is a slow growing type of myeloma in which abnormal plasma cells results_in too much of a single type of monoclonal antibody. url:http://www.cancer.gov/dictionary/?CdrID=413932 disease_ontology DOID:9552 adrenal gland hypofunction true An endocrine system disease that is located_in the adrenal gland. ICD10CM:E27.9 ICD9CM:255 ICD9CM:255.9 MESH:D000307 NCI:C26690 SNOMEDCT_US_2016_03_01:154704000 SNOMEDCT_US_2016_03_01:190532009 SNOMEDCT_US_2016_03_01:30171000 UMLS_CUI:C0001621 disease_ontology DOID:9553 adrenal gland disease An endocrine system disease that is located_in the adrenal gland. url:http://en.wikipedia.org/wiki/Adrenal_gland_disease NCI:C41430 UMLS_CUI:C1519001 disease_ontology DOID:956 peripheral nerve schwannoma MESH:D009302 NCI:C35723 SNOMEDCT_US_2016_03_01:123952009 UMLS_CUI:C0027438 disease_ontology DOID:9561 nasopharyngeal disease A ciliopathy that is characterized by impaired function of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube. DOID:2925 MESH:D002925 NCI:C84638 OMIM:PS244400 ORDO:244 SNOMEDCT_US_2016_03_01:86204009 SNOMEDCT_US_2016_03_01:9057007 UMLS_CUI:C0008780 ciliary motility disorder immotile ciliary syndrome disease_ontology DOID:9562 Xref MGI. OMIM mapping confirmed by DO. [SN]. primary ciliary dyskinesia A ciliopathy that is characterized by impaired function of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube. url:http://en.wikipedia.org/wiki/Primary_ciliary_dyskinesia A bronchial disease that is a chronic inflammatory condition of one or more bronchi or bronchioles marked by dilatation and loss of elasticity of the walls resulting from damage to the airway wall leading to the formation of small sacs on the bronchial wall and impairment of cilia mobility in the lung. Inflammation of the bronchial wall increases mucus secretion which serves as a breeding ground for bacteria. Bronchiectasis is caused by repeated respiratory infections, immune deficiency disorders, hereditary disorders (cystic fibrosis or primary ciliary dyskinesia), mechanical factors (inhaled object or a lung tumor) or inhaling toxic substances. DOID:11046 DOID:11047 DOID:9571 ICD10CM:J47 ICD10CM:J47.9 ICD9CM:494 MESH:D001987 NCI:C84475 OMIM:211400 OMIM:613021 OMIM:613071 ORDO:60033 SNOMEDCT_US_2016_03_01:12295008 SNOMEDCT_US_2016_03_01:155580000 SNOMEDCT_US_2016_03_01:195986009 UMLS_CUI:C0006267 Polynesian bronchiectasis disease_ontology DOID:9563 Xref MGI. OMIM mapping confirmed by DO. [SN]. bronchiectasis A bronchial disease that is a chronic inflammatory condition of one or more bronchi or bronchioles marked by dilatation and loss of elasticity of the walls resulting from damage to the airway wall leading to the formation of small sacs on the bronchial wall and impairment of cilia mobility in the lung. Inflammation of the bronchial wall increases mucus secretion which serves as a breeding ground for bacteria. Bronchiectasis is caused by repeated respiratory infections, immune deficiency disorders, hereditary disorders (cystic fibrosis or primary ciliary dyskinesia), mechanical factors (inhaled object or a lung tumor) or inhaling toxic substances. url:http://www.merck.com/mmhe/sec04/ch047/ch047a.html url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bronchiectasis ICD10CM:Q24.0 MESH:D003914 NCI:C84669 SNOMEDCT_US_2016_03_01:156925007 SNOMEDCT_US_2016_03_01:27637000 UMLS_CUI:C0011813 Heart predominantly in right hemithorax disease_ontology DOID:9565 dextrocardia Heart predominantly in right hemithorax SNOMEDCT_2005_07_31:156925007 DOID:14713 ICD10CM:Q30.0 ICD9CM:748.0 MESH:C562435 MESH:D002754 OMIM:608911 SNOMEDCT_US_2016_03_01:14988006 SNOMEDCT_US_2016_03_01:156934002 SNOMEDCT_US_2016_03_01:204508009 SNOMEDCT_US_2016_03_01:204509001 SNOMEDCT_US_2016_03_01:204514002 SNOMEDCT_US_2016_03_01:53458004 UMLS_CUI:C0008297 UMLS_CUI:C0220723 Atresia of nares Imperforate nares posterior choanal atresia disease_ontology DOID:9574 OMIM mapping confirmed by DO. [SN]. choanal atresia Atresia of nares MTHICD9_2006:748.0 Imperforate nares SNOMEDCT_2005_07_31:53458004 A candidiasis that involves fungal infection in neonates caused by Candida species. Low birthweight and age, prolonged intravascular catheterization and the use of antibiotic drugs are the principle predisposing conditions for systemic candidiasis in neonates. ICD10CM:P37.5 ICD9CM:771.7 NCI:C116810 SNOMEDCT_US_2016_03_01:157121009 SNOMEDCT_US_2016_03_01:206362009 SNOMEDCT_US_2016_03_01:3973009 SNOMEDCT_US_2016_03_01:414821002 UMLS_CUI:C0276682 Neonatal Candida infection Neonatal candida infection Neonatal monilia infection (disorder) neonatal moniliasis disease_ontology DOID:9577 neonatal candidiasis A candidiasis that involves fungal infection in neonates caused by Candida species. Low birthweight and age, prolonged intravascular catheterization and the use of antibiotic drugs are the principle predisposing conditions for systemic candidiasis in neonates. url:http://emedicine.medscape.com/article/1090632-overview url:http://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/ Neonatal Candida infection ICD9CM_2006:771.7 Neonatal candida infection SNOMEDCT_2005_07_31:157121009 Neonatal monilia infection (disorder) SNOMEDCT_2005_07_31:3973009 disease_ontology DOID:9579 Pseudomonas septicemia true A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Venezuelan equine encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom severe headache, has_symptom photophobia, and has_symptom myalgia in the legs and lumbosacral region. ICD10CM:A92.2 ICD9CM:066.2 MESH:D004685 NCI:C35121 SNOMEDCT_US_2016_03_01:417067005 SNOMEDCT_US_2016_03_01:417702007 SNOMEDCT_US_2016_03_01:89990001 UMLS_CUI:C0014078 disease_ontology Venezuelan equine fever DOID:9584 Venezuelan equine encephalitis A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Venezuelan equine encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom severe headache, has_symptom photophobia, and has_symptom myalgia in the legs and lumbosacral region. url:http://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm Venezuelan equine fever ICD9CM_2006:066.2 An Alphavirus infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus, has_material_basis_in Venezuelan equine encephalitis virus, or has_material_basis_in Western equine encephalomyelitis virus, which are transmitted_by moquito bite. The infection has_symptom fever, has_symptom headache, and has_symptom malaise. disease_ontology DOID:9585 equine encephalitis true An Alphavirus infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus, has_material_basis_in Venezuelan equine encephalitis virus, or has_material_basis_in Western equine encephalomyelitis virus, which are transmitted_by moquito bite. The infection has_symptom fever, has_symptom headache, and has_symptom malaise. url:http://www.state.nj.us/agriculture/divisions/ah/diseases/equine_encephalomyelitis.html A brain disease that is characterized as an acute inflammation of the brain with flu-like symptoms. DOID:2160 MESH:D004660 NCI:C26760 SNOMEDCT_US_2016_03_01:192736002 SNOMEDCT_US_2016_03_01:267578009 SNOMEDCT_US_2016_03_01:267682000 SNOMEDCT_US_2016_03_01:45170000 UMLS_CUI:C0014038 disease_ontology DOID:9588 encephalitis A brain disease that is characterized as an acute inflammation of the brain with flu-like symptoms. url:http://en.wikipedia.org/wiki/Encephalitis url:http://www.mayoclinic.org/diseases-conditions/encephalitis/basics/definition/con-20021917 url:http://www.nlm.nih.gov/medlineplus/encephalitis.html ICD10CM:N21.1 ICD9CM:594.2 NCI:C26995 SNOMEDCT_US_2016_03_01:155880008 SNOMEDCT_US_2016_03_01:20342001 UMLS_CUI:C0162301 urethral Stone disease_ontology DOID:9589 urethral calculus urethral Stone NCI2004_11_17:C26995 NCI:C5344 UMLS_CUI:C1333467 disease_ontology DOID:959 esophagus squamous cell papilloma A urinary system disease that is located_in the lower urinary tract and is characterized by the formation of a stone. ICD10CM:N21 ICD10CM:N21.9 ICD9CM:594 ICD9CM:594.9 SNOMEDCT_US_2016_03_01:155878002 SNOMEDCT_US_2016_03_01:155881007 SNOMEDCT_US_2016_03_01:197828005 SNOMEDCT_US_2016_03_01:197832004 SNOMEDCT_US_2016_03_01:79509009 UMLS_CUI:C0156264 disease_ontology DOID:9590 lower urinary tract calculus A urinary system disease that is located_in the lower urinary tract and is characterized by the formation of a stone. url:http://en.wikipedia.org/wiki/Calculus_%28medicine%29 metastasis to ovary disease_ontology DOID:9594 ovarian metastasis true metastasis to ovary SNOMEDCT_2005_07_31:154573007 MESH:D007725 NCI:C3153 SNOMEDCT_US_2016_03_01:359987004 SNOMEDCT_US_2016_03_01:4305004 SNOMEDCT_US_2016_03_01:94455000 UMLS_CUI:C0022790 Krukenberg neoplasm disease_ontology Krukenberg tumor DOID:9597 Krukenberg carcinoma Krukenberg neoplasm NCI2004_11_17:C3153 ICD10CM:M72.9 ICD9CM:729.4 MESH:D005208 NCI:C50559 SNOMEDCT_US_2016_03_01:203123000 SNOMEDCT_US_2016_03_01:36948007 UMLS_CUI:C0015645 disease_ontology DOID:9598 fasciitis NCI:C4728 SNOMEDCT_US_2016_03_01:254737002 SNOMEDCT_US_2016_03_01:35548007 UMLS_CUI:C0432528 disease_ontology DOID:9599 proliferative fasciitis A primary bacterial infectious disease that results_in infection located_in intestine caused by eating food contaminated with enterotoxins produced by bacteria, has_material_basis_in Staphylococcus aureus. The infection has_symptom diarrhea, has_symptom vomiting, has_symptom nausea, has_symptom cramps, and has_symptom weakness. ICD10CM:A05.0 ICD9CM:005.0 MESH:D013202 NCI:C35037 SNOMEDCT_US_2016_03_01:84622004 UMLS_CUI:C0038159 Staphylococcal food poisoning Staphylococcal toxaemia due to food staphyloenterotoxicosis disease_ontology DOID:96 staphyloenterotoxemia A primary bacterial infectious disease that results_in infection located_in intestine caused by eating food contaminated with enterotoxins produced by bacteria, has_material_basis_in Staphylococcus aureus. The infection has_symptom diarrhea, has_symptom vomiting, has_symptom nausea, has_symptom cramps, and has_symptom weakness. url:http://www.fda.gov/Food/FoodSafety/FoodborneIllness/FoodborneIllnessFoodbornePathogensNaturalToxins/BadBugBook/ucm070015.htm url:http://www.in.gov/isdh/22420.htm Staphylococcal food poisoning ICD9CM_2006:005.0 Staphylococcal toxaemia due to food SNOMEDCT_2005_07_31:84622004 NCI:C3866 SNOMEDCT_US_2016_03_01:276805005 UMLS_CUI:C0238114 disease_ontology DOID:960 esophagus leiomyoma ICD10CM:M72.2 MESH:D036981 SNOMEDCT_US_2016_03_01:156725003 SNOMEDCT_US_2016_03_01:202882003 SNOMEDCT_US_2016_03_01:203056001 SNOMEDCT_US_2016_03_01:2482001 UMLS_CUI:C0149756 disease_ontology DOID:9600 plantar fasciitis NCI:C6483 SNOMEDCT_US_2016_03_01:403990005 UMLS_CUI:C1304514 Atypical Decubital Fibroplasia disease_ontology DOID:9601 ischemic fasciitis Atypical Decubital Fibroplasia NCI2004_11_17:C6483 ICD10CM:M72.6 ICD9CM:728.86 MESH:D019115 NCI:C84916 SNOMEDCT_US_2016_03_01:186428007 SNOMEDCT_US_2016_03_01:52486002 UMLS_CUI:C0238124 disease_ontology DOID:9602 necrotizing fasciitis NCI:C4729 SNOMEDCT_US_2016_03_01:254738007 UMLS_CUI:C0432529 Intravascular Pseudosarcomatous Fasciitis disease_ontology DOID:9603 intravascular fasciitis Intravascular Pseudosarcomatous Fasciitis NCI2004_11_17:C4729 NCI:C5704 UMLS_CUI:C1333463 disease_ontology DOID:961 neurofibroma of the esophagus ICD10CM:R80.2 ICD9CM:593.6 SNOMEDCT_US_2016_03_01:155874000 SNOMEDCT_US_2016_03_01:32482005 SNOMEDCT_US_2016_03_01:77872002 SNOMEDCT_US_2016_03_01:78719009 UMLS_CUI:C0232867 Postural albuminuria disease_ontology DOID:9617 orthostatic proteinuria Postural albuminuria SNOMEDCT_2005_07_31:77872002 MESH:D009455 NCI:C3272 SNOMEDCT_US_2016_03_01:115242003 SNOMEDCT_US_2016_03_01:134214003 SNOMEDCT_US_2016_03_01:189947001 SNOMEDCT_US_2016_03_01:404029005 SNOMEDCT_US_2016_03_01:89084002 UMLS_CUI:C0027830 disease_ontology DOID:962 neurofibroma A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter. ICD10CM:N13.7 ICD10CM:N13.70 ICD9CM:593.7 MESH:D014718 NCI:C84467 OMIM:193000 OMIM:314550 OMIM:610878 OMIM:613674 OMIM:614317 OMIM:614318 OMIM:614319 OMIM:614674 OMIM:615390 OMIM:615963 ORDO:289365 SNOMEDCT_US_2016_03_01:155875004 SNOMEDCT_US_2016_03_01:197811007 SNOMEDCT_US_2016_03_01:251994004 SNOMEDCT_US_2016_03_01:26836002 UMLS_CUI:C0042580 vesico-ureteral reflux disease_ontology DOID:9620 Xref MGI. OMIM mapping confirmed by DO. [LS]. vesicoureteral reflux A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter. url:http://en.wikipedia.org/wiki/Vesicoureteral_reflux url:http://ghr.nlm.nih.gov/glossary=vesicoureteralreflux url:http://www.mayoclinic.org/diseases-conditions/vesicoureteral-reflux/basics/definition/con-20031544?_ga=1.233953949.2017809229.1415219956 ICD10CM:N28.1 ICD9CM:593.2 SNOMEDCT_US_2016_03_01:105999006 SNOMEDCT_US_2016_03_01:155872001 SNOMEDCT_US_2016_03_01:197803002 SNOMEDCT_US_2016_03_01:266625006 UMLS_CUI:C0268799 disease_ontology DOID:9621 non-congenital cyst of kidney ICD10CM:N28.81 ICD9CM:593.1 NCI:C122991 SNOMEDCT_US_2016_03_01:197800004 SNOMEDCT_US_2016_03_01:88531004 UMLS_CUI:C0156259 disease_ontology DOID:9622 kidney hypertrophy A hereditary ataxia characterized by sporadic bouts of ataxia with or without continuous muscle movement. MESH:C580065 ORDO:211062 SNOMEDCT_US_2016_03_01:421455009 UMLS_CUI:C1720189 Isaacs syndrome disease_ontology DOID:963 Xref MGI. OMIM mapping confirmed by DO. [SN]. Updated outdated UMLS CUI. episodic ataxia A hereditary ataxia characterized by sporadic bouts of ataxia with or without continuous muscle movement. url:http://en.wikipedia.org/wiki/Episodic_ataxia url:http://ghr.nlm.nih.gov/condition/episodic-ataxia disease_ontology DOID:9630 genetic anomaly of leucocyte true MESH:D010381 NCI:C85002 OMIM:169400 SNOMEDCT_US_2016_03_01:191356000 SNOMEDCT_US_2016_03_01:85559002 UMLS_CUI:C0030779 disease_ontology DOID:9631 OMIM mapping confirmed by DO. [SN]. Pelger-Huet anomaly ICD10CM:K12.1 MESH:D013280 NCI:C26887 SNOMEDCT_US_2016_03_01:155660009 SNOMEDCT_US_2016_03_01:196527002 SNOMEDCT_US_2016_03_01:61170000 SNOMEDCT_US_2016_03_01:95361005 UMLS_CUI:C0038362 disease_ontology DOID:9637 stomatitis A coccidiosis that involves infection of the intestine and muscles of humans and animals caused by an intracellular protozoan parasite of genus Sarcocystis. The symptoms include mild fever, diarrhea, chills, vomiting, muscle swelling, erythema, muscle tenderness,cough, arthralgia, transient pruritic rashes, headache, malaise and lymphadenopathy. ICD10CM:A07.8 ICD9CM:136.5 MESH:D012523 SNOMEDCT_US_2016_03_01:88905005 UMLS_CUI:C0036231 Sarcosporidiosis disease_ontology DOID:9640 sarcocystosis A coccidiosis that involves infection of the intestine and muscles of humans and animals caused by an intracellular protozoan parasite of genus Sarcocystis. The symptoms include mild fever, diarrhea, chills, vomiting, muscle swelling, erythema, muscle tenderness,cough, arthralgia, transient pruritic rashes, headache, malaise and lymphadenopathy. url:http://www.cfsph.iastate.edu/Factsheets/pdfs/sarcocystosis.pdf url:http://www.dpd.cdc.gov/DPDx/HTML/Sarcocystosis.htm Sarcosporidiosis ICD9CM_2006:136.5 DOID:9641 DOID:9813 Sydenham's chorea chorea minor disease_ontology DOID:9642 rheumatic chorea true chorea minor CSP2005:2057-3299 A parasitic protozoa infectious disease that has_symptommild fevers and has_symptom anemia described as malaria-like symptoms caused by a protozoan of genus Babesia, which reproduce in red blood cells and cause hemolytic anemia. They are transmitted by Ixodid ticks or by blood transfusion. Babesiosis is a zoonotic disease. ICD10CM:B60.0 ICD9CM:088.82 MESH:D001404 NCI:C84581 SNOMEDCT_US_2016_03_01:187241002 SNOMEDCT_US_2016_03_01:21061004 SNOMEDCT_US_2016_03_01:276204002 UMLS_CUI:C0004576 Babesiasis Infection by babesia piroplasmosis disease_ontology DOID:9643 babesiosis A parasitic protozoa infectious disease that has_symptommild fevers and has_symptom anemia described as malaria-like symptoms caused by a protozoan of genus Babesia, which reproduce in red blood cells and cause hemolytic anemia. They are transmitted by Ixodid ticks or by blood transfusion. Babesiosis is a zoonotic disease. url:http://en.wikipedia.org/wiki/Babesiosis Babesiasis MTHICD9_2006:088.82 Infection by babesia SNOMEDCT_2005_07_31:276204002 piroplasmosis CSP2005:2214-4957 DOID:1298 DOID:1299 DOID:1300 disease_ontology DOID:9647 obstructed labor true A pathologic nystagmus, present at birth, characterized by involuntary, rhythmic eye movements; oscillations are usually horizontal in direction. ICD10CM:H55.01 ICD9CM:379.51 MESH:D020417 OMIM:164100 OMIM:193003 OMIM:300589 OMIM:300814 OMIM:608345 OMIM:614826 ORDO:651 SNOMEDCT_US_2016_03_01:155205009 SNOMEDCT_US_2016_03_01:194173005 SNOMEDCT_US_2016_03_01:267750005 SNOMEDCT_US_2016_03_01:64635004 UMLS_CUI:C0700501 disease_ontology DOID:9649 Xref MGI. congenital nystagmus A pathologic nystagmus, present at birth, characterized by involuntary, rhythmic eye movements; oscillations are usually horizontal in direction. url:http://en.wikipedia.org/wiki/Nystagmus url:http://ghr.nlm.nih.gov/glossary=nystagmus url:http://www.merckmanuals.com/professional/ear_nose_and_throat_disorders/approach_to_the_patient_with_ear_problems/evaluation_of_ear_disorders.html#v942669 ICD10CM:H55.0 ICD10CM:H55.00 ICD9CM:379.50 MESH:D009759 NCI:C3282 SNOMEDCT_US_2016_03_01:155205009 SNOMEDCT_US_2016_03_01:194171007 SNOMEDCT_US_2016_03_01:194172000 SNOMEDCT_US_2016_03_01:267750005 SNOMEDCT_US_2016_03_01:563001 UMLS_CUI:C0028738 disease_ontology DOID:9650 pathologic nystagmus ICD10CM:I50.20 ICD9CM:428.2 ICD9CM:428.20 MESH:D054143 SNOMEDCT_US_2016_03_01:417996009 UMLS_CUI:C1135191 disease_ontology DOID:9651 systolic heart failure DOID:10855 DOID:14078 DOID:9652 disease_ontology DOID:9653 Pre-eclampsia or eclampsia superimposed on pre-existing hypertension true DOID:13703 DOID:9844 DOID:9845 disease_ontology DOID:9654 hypertension complicating pregnancy, childbirth and the puerperium true ICD10CM:K13.2 ICD10CM:K13.21 ICD9CM:528.6 UMLS_CUI:C1112530 disease_ontology DOID:9655 oral mucosa leukoplakia A stomatitis characterized by the repeated formation of benign and non-contagious mouth ulcers. ICD9CM:528.2 MESH:D013281 NCI:C62546 SNOMEDCT_US_2016_03_01:110426005 SNOMEDCT_US_2016_03_01:155661008 SNOMEDCT_US_2016_03_01:196529004 SNOMEDCT_US_2016_03_01:196534000 SNOMEDCT_US_2016_03_01:196536003 SNOMEDCT_US_2016_03_01:303117009 SNOMEDCT_US_2016_03_01:321258009 SNOMEDCT_US_2016_03_01:322224003 SNOMEDCT_US_2016_03_01:367526005 SNOMEDCT_US_2016_03_01:398870000 SNOMEDCT_US_2016_03_01:426965005 SNOMEDCT_US_2016_03_01:427617000 SNOMEDCT_US_2016_03_01:83312008 UMLS_CUI:C0038363 Aphtha (morphologic abnormality) Aphthous ulceration (disorder) Canker sore Oral aphthae oral ulcer disease_ontology Oral aphthous ulcer DOID:9663 aphthous stomatitis A stomatitis characterized by the repeated formation of benign and non-contagious mouth ulcers. url:http://en.wikipedia.org/wiki/Aphthous_stomatitis Aphtha (morphologic abnormality) SNOMEDCT_2005_07_31:110426005 Aphthous ulceration (disorder) SNOMEDCT_2005_07_31:321258009 Canker sore MTHICD9_2006:528.2 Oral aphthae ICD9CM_2006:528.2 Oral aphthous ulcer SNOMEDCT_2005_07_31:155661008 A placenta disease that is characterized by separation of the placental lining from the uterus of the mother. DOID:12976 DOID:12977 DOID:13233 DOID:13234 DOID:13587 DOID:13627 DOID:14406 DOID:9666 ICD10CM:O20.0 ICD9CM:640.0 ICD9CM:640.03 MESH:D000033 NCI:C112857 SNOMEDCT_US_2016_03_01:156098004 SNOMEDCT_US_2016_03_01:198882006 SNOMEDCT_US_2016_03_01:198885008 SNOMEDCT_US_2016_03_01:22689002 SNOMEDCT_US_2016_03_01:54048003 UMLS_CUI:C0000821 abruptio placenta abruptio placentae disease_ontology DOID:9667 PRISM. placental abruption A placenta disease that is characterized by separation of the placental lining from the uterus of the mother. url:http://en.wikipedia.org/wiki/Abruptio_placentae abruptio placentae CSP2005:2403-9411 ICD10CM:H25 ICD9CM:366.1 ICD9CM:366.10 NCI:C35012 SNOMEDCT_US_2016_03_01:155127007 SNOMEDCT_US_2016_03_01:193582000 SNOMEDCT_US_2016_03_01:193583005 SNOMEDCT_US_2016_03_01:193594009 SNOMEDCT_US_2016_03_01:39450006 UMLS_CUI:C0036646 disease_ontology DOID:9669 senile cataract ICD10CM:A69.0 ICD9CM:528.1 MESH:D009625 NCI:C34852 SNOMEDCT_US_2016_03_01:18116006 SNOMEDCT_US_2016_03_01:196528007 SNOMEDCT_US_2016_03_01:266427007 SNOMEDCT_US_2016_03_01:399050001 UMLS_CUI:C0028271 Cancrum oris Gangrenous stomatitis disease_ontology DOID:9672 noma Cancrum oris ICD9CM_2006:528.1 Gangrenous stomatitis MTHICD9_2006:528.1 ICD10CM:K12.1 MESH:D005892 NCI:C35039 SNOMEDCT_US_2016_03_01:450005 UMLS_CUI:C0038367 disease_ontology DOID:9673 ulcerative stomatitis ICD10CM:J43.8 ICD9CM:492.8 OMIM:130700 SNOMEDCT_US_2016_03_01:195962007 SNOMEDCT_US_2016_03_01:195965009 SNOMEDCT_US_2016_03_01:196230005 SNOMEDCT_US_2016_03_01:266357002 UMLS_CUI:C0029607 disease_ontology DOID:9675 pulmonary emphysema disease_ontology DOID:9678 cervical incompetence complicating pregnancy, childbirth, or the puerperium true A cervix disease that is characterized by the beginning of dilation and effacement of a pregnant woman's cervix before her pregnancy has reached term. ICD10CM:N88.3 ICD9CM:622.5 MESH:D002581 NCI:C50607 SNOMEDCT_US_2016_03_01:156172008 SNOMEDCT_US_2016_03_01:157049000 SNOMEDCT_US_2016_03_01:17382005 SNOMEDCT_US_2016_03_01:199480002 SNOMEDCT_US_2016_03_01:199481003 SNOMEDCT_US_2016_03_01:199486008 SNOMEDCT_US_2016_03_01:36836005 UMLS_CUI:C0007871 disease_ontology DOID:9681 cervical incompetence A cervix disease that is characterized by the beginning of dilation and effacement of a pregnant woman's cervix before her pregnancy has reached term. url:http://en.wikipedia.org/wiki/Cervical_incompetence A viral infectious disease that results_in infection, has_material_basis_in Yellow fever virus, which is transmitted_by Aedes, transmitted_by Haemagogus, or transmitted_by Sabethes species of mosquitoes. The infection has_symptom fever, has_symptom muscle pain, has_symptom backache, has_symptom headache, has_symptom shivers, has_symptom loss of appetite, has_symptom jaundice, and has_symptom bleeding from the mouth, nose, eyes or stomach leading to vomitus containing blood. DOID:9683 DOID:9684 ICD10CM:A95 ICD10CM:A95.9 ICD9CM:060 ICD9CM:060.9 MESH:D015004 NCI:C35547 SNOMEDCT_US_2016_03_01:154345006 SNOMEDCT_US_2016_03_01:16541001 SNOMEDCT_US_2016_03_01:186587002 SNOMEDCT_US_2016_03_01:187411002 SNOMEDCT_US_2016_03_01:266194002 UMLS_CUI:C0043395 Sylvatic yellow fever Yellow fever, sylvan jungle yellow fever urban yellow fever disease_ontology DOID:9682 yellow fever A viral infectious disease that results_in infection, has_material_basis_in Yellow fever virus, which is transmitted_by Aedes, transmitted_by Haemagogus, or transmitted_by Sabethes species of mosquitoes. The infection has_symptom fever, has_symptom muscle pain, has_symptom backache, has_symptom headache, has_symptom shivers, has_symptom loss of appetite, has_symptom jaundice, and has_symptom bleeding from the mouth, nose, eyes or stomach leading to vomitus containing blood. url:http://en.wikipedia.org/wiki/Yellow_fever url:http://www.cdc.gov/ncidod/dvbid/yellowfever/YF_FactSheet.html url:http://www.who.int/mediacentre/factsheets/fs100/en/index.html Sylvatic yellow fever ICD9CM_2006:060.0 Yellow fever, sylvan MTHICD9_2006:060.0 ICD9CM:422.93 SNOMEDCT_US_2016_03_01:31993003 UMLS_CUI:C0155691 disease_ontology DOID:9694 toxic myocarditis ICD10CM:A54.33 ICD9CM:098.43 SNOMEDCT_US_2016_03_01:186924001 SNOMEDCT_US_2016_03_01:40149008 UMLS_CUI:C0153214 disease_ontology DOID:9697 gonococcal keratitis ICD10CM:A54.39 ICD9CM:098.42 SNOMEDCT_US_2016_03_01:111807001 SNOMEDCT_US_2016_03_01:186923007 UMLS_CUI:C0153213 disease_ontology DOID:9698 gonococcal endophthalmia DOID:10601 ICD10CM:P39.1 ICD9CM:771.6 NCI:C116815 SNOMEDCT_US_2016_03_01:157120005 SNOMEDCT_US_2016_03_01:206345004 SNOMEDCT_US_2016_03_01:206354001 SNOMEDCT_US_2016_03_01:34298002 SNOMEDCT_US_2016_03_01:80881003 UMLS_CUI:C0027611 UMLS_CUI:C0029076 Gonococcal conjunctivitis (neonatorum) Gonococcal ophthalmia neonatorum Neonatal conjunctivitis disease_ontology DOID:9699 ophthalmia neonatorum Gonococcal conjunctivitis (neonatorum) ICD9CM_2006:098.40 Gonococcal ophthalmia neonatorum MTHICD9_2006:098.40 Neonatal conjunctivitis SNOMEDCT_2005_07_31:157120005 MESH:D013717 SNOMEDCT_US_2016_03_01:156666009 SNOMEDCT_US_2016_03_01:240035004 SNOMEDCT_US_2016_03_01:268092005 SNOMEDCT_US_2016_03_01:67801009 UMLS_CUI:C0039520 Inflammation of tendon sheath disease_ontology DOID:970 tenosynovitis Inflammation of tendon sheath SNOMEDCT_2005_07_31:240035004 ICD10CM:H10.0 MESH:D003234 NCI:C53656 SNOMEDCT_US_2016_03_01:128350005 SNOMEDCT_US_2016_03_01:17482009 SNOMEDCT_US_2016_03_01:193877001 SNOMEDCT_US_2016_03_01:243321006 SNOMEDCT_US_2016_03_01:243462001 UMLS_CUI:C0009768 Purulent conjunctivitis disease_ontology DOID:9700 bacterial conjunctivitis Purulent conjunctivitis SNOMEDCT_2005_07_31:243321006 ICD9CM:372.31 SNOMEDCT_US_2016_03_01:10128002 UMLS_CUI:C0155152 disease_ontology DOID:9709 rosacea conjunctivitis ICD10CM:M77.9 MESH:D052256 NCI:C97141 SNOMEDCT_US_2016_03_01:156665008 SNOMEDCT_US_2016_03_01:202893001 SNOMEDCT_US_2016_03_01:267996008 SNOMEDCT_US_2016_03_01:268091003 SNOMEDCT_US_2016_03_01:312785002 SNOMEDCT_US_2016_03_01:34840004 UMLS_CUI:C0039503 disease_ontology DOID:971 tendinitis ICD10CM:K82.0 ICD9CM:575.2 NCI:C78308 SNOMEDCT_US_2016_03_01:197415009 SNOMEDCT_US_2016_03_01:197416005 SNOMEDCT_US_2016_03_01:197420009 SNOMEDCT_US_2016_03_01:75726005 UMLS_CUI:C0156214 Obstruction of gallbladder disease_ontology DOID:9714 occlusion of gallbladder Obstruction of gallbladder ICD9CM_2006:575.2 ICD10CM:K82.1 ICD9CM:575.3 SNOMEDCT_US_2016_03_01:197421008 SNOMEDCT_US_2016_03_01:47312008 UMLS_CUI:C0152445 disease_ontology DOID:9717 hydrops of gallbladder disease_ontology DOID:9718 meningococcal myocarditis true MESH:D018630 SNOMEDCT_US_2016_03_01:193364004 SNOMEDCT_US_2016_03_01:232016005 UMLS_CUI:C0242852 Retinitis proliferans disease_ontology DOID:9719 proliferative vitreoretinopathy Retinitis proliferans SNOMEDCT_2005_07_31:193364004 disease_ontology DOID:972 malignant neoplasm of cerebrum except lobes and ventricles true An eye and adnexa disease that is located in the vitreous of the eye. ICD10CM:H43.3 ICD10CM:H43.39 ICD9CM:379.24 SNOMEDCT_US_2016_03_01:194154006 SNOMEDCT_US_2016_03_01:194636006 UMLS_CUI:C0029872 disease_ontology DOID:9720 vitreous disease An eye and adnexa disease that is located in the vitreous of the eye. url:http://www.sw.org/eye-institute/retinal-vitreous-diseases ICD10CM:H16.24 ICD9CM:360.14 SNOMEDCT_US_2016_03_01:12371008 UMLS_CUI:C0154775 disease_ontology DOID:9722 ophthalmia nodosa ICD9CM:360.04 SNOMEDCT_US_2016_03_01:48142003 UMLS_CUI:C0042904 disease_ontology DOID:9723 vitreous abscess ICD10CM:H44.0 ICD10CM:H44.00 ICD9CM:360.0 ICD9CM:360.00 SNOMEDCT_US_2016_03_01:193267009 SNOMEDCT_US_2016_03_01:193271007 SNOMEDCT_US_2016_03_01:41720003 UMLS_CUI:C0259800 disease_ontology DOID:9724 purulent endophthalmitis ICD10CM:H43.81 MESH:D020255 NCI:C50807 SNOMEDCT_US_2016_03_01:155202007 SNOMEDCT_US_2016_03_01:267747007 SNOMEDCT_US_2016_03_01:393583008 SNOMEDCT_US_2016_03_01:53772007 UMLS_CUI:C0042907 disease_ontology DOID:9726 vitreous detachment disease_ontology DOID:9728 vitreous membranes and strands true disease_ontology DOID:9729 crystalline deposits in vitreous true An urogenital tuberculosis that results_in formation of granulomas located_in kidney. ICD9CM:016.0 ICD9CM:016.00 MESH:D014398 NCI:C123020 SNOMEDCT_US_2016_03_01:186236001 SNOMEDCT_US_2016_03_01:44323002 UMLS_CUI:C0041328 Tuberculosis of kidney disease_ontology DOID:9733 renal tuberculosis An urogenital tuberculosis that results_in formation of granulomas located_in kidney. url:http://emedicine.medscape.com/article/450651-overview Tuberculosis of kidney ICD9CM_2006:016.0 disease_ontology DOID:9734 urinary tuberculosis true A blue drum syndrome caused by an allergen. ICD9CM:381.05 SNOMEDCT_US_2016_03_01:194242003 SNOMEDCT_US_2016_03_01:8326008 UMLS_CUI:C0155419 disease_ontology DOID:9735 acute allergic mucoid otitis media A blue drum syndrome caused by an allergen. url:http://www.ncbi.nlm.nih.gov/pubmed/15301306 A acute transudative otitis media involving thick, viscid and mucuslike fluid effusion due to which the drum appears blue in color. ICD9CM:381.02 SNOMEDCT_US_2016_03_01:52353000 UMLS_CUI:C0395863 acute mucoid otitis media disease_ontology DOID:9736 blue drum syndrome A acute transudative otitis media involving thick, viscid and mucuslike fluid effusion due to which the drum appears blue in color. url:http://books.google.com/books?id=6qIZei3Da-wC&pg=PA84&lpg#v=onepage&q=&f=false url:http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA127&lpg#v=onepage&q=&f=false acute mucoid otitis media ICD9CM_2006:381.02 A non-suppurative otitis media and eustachian tube disorder in which the tube is either too narrow or too wide. It can also be cuased by nasal inflammation which leads to inflammatory swelling and obstruction of the eustachian tube, which, in turn, leads to increased negative pressure in the middle ear and improper ventilation. ICD9CM:381.8 ICD9CM:381.89 SNOMEDCT_US_2016_03_01:194277003 SNOMEDCT_US_2016_03_01:194278008 UMLS_CUI:C0155435 disease_ontology DOID:9739 eustachian tube disease A non-suppurative otitis media and eustachian tube disorder in which the tube is either too narrow or too wide. It can also be cuased by nasal inflammation which leads to inflammatory swelling and obstruction of the eustachian tube, which, in turn, leads to increased negative pressure in the middle ear and improper ventilation. url:http://books.google.com/books?id=UQ-rOpK6oScC&pg=PA3&lpg#v=onepage&q=&f=false A respiratory system disease which involves the upper respiratory tract. ICD9CM:478.1 ICD9CM:478.19 SNOMEDCT_US_2016_03_01:195823002 SNOMEDCT_US_2016_03_01:266346007 UMLS_CUI:C0029581 disease_ontology DOID:974 upper respiratory tract disease A respiratory system disease which involves the upper respiratory tract. url:http://en.wikipedia.org/wiki/Category:Upper_respiratory_tract_diseases url:http://www.who.int/topics/respiratory_tract_diseases/en/ ICD10CM:K91.5 ICD9CM:576.0 MESH:D017562 SNOMEDCT_US_2016_03_01:90782003 UMLS_CUI:C0152099 disease_ontology DOID:9740 postcholecystectomy syndrome ICD10CM:K83.9 ICD9CM:576.9 MESH:D001660 SNOMEDCT_US_2016_03_01:105997008 SNOMEDCT_US_2016_03_01:155830002 SNOMEDCT_US_2016_03_01:155832005 SNOMEDCT_US_2016_03_01:266544009 SNOMEDCT_US_2016_03_01:266545005 SNOMEDCT_US_2016_03_01:5235004 UMLS_CUI:C0005424 disease_ontology DOID:9741 biliary tract disease ICD10CM:I86.2 ICD9CM:456.5 SNOMEDCT_US_2016_03_01:17406005 SNOMEDCT_US_2016_03_01:195481006 SNOMEDCT_US_2016_03_01:266271008 UMLS_CUI:C0155795 disease_ontology DOID:9742 pelvic varices ICD9CM:250.6 MESH:D003929 NCI:C26748 SNOMEDCT_US_2016_03_01:154683002 SNOMEDCT_US_2016_03_01:190349003 SNOMEDCT_US_2016_03_01:190353001 SNOMEDCT_US_2016_03_01:193182005 SNOMEDCT_US_2016_03_01:230572002 SNOMEDCT_US_2016_03_01:267472008 SNOMEDCT_US_2016_03_01:866003 UMLS_CUI:C0011882 disease_ontology DOID:9743 diabetic neuropathy A diabetes mellitus that results from the body's failure to produce insulin and has_material_basis_in autoimmune destruction of insulin-producing beta cells of the pancreas. EFO:0001359 ICD10CM:E10 KEGG:04940 MESH:D003922 NCI:C2986 OMIM:222100 SNOMEDCT_US_2016_03_01:154673001 SNOMEDCT_US_2016_03_01:190322003 SNOMEDCT_US_2016_03_01:190362004 SNOMEDCT_US_2016_03_01:267469001 SNOMEDCT_US_2016_03_01:46635009 UMLS_CUI:C0011854 IDDM insulin-dependent diabetes mellitus type I diabetes mellitus disease_ontology DOID:9744 Xref MGI. OMIM mapping confirmed by DO. [SN]. type 1 diabetes mellitus A diabetes mellitus that results from the body's failure to produce insulin and has_material_basis_in autoimmune destruction of insulin-producing beta cells of the pancreas. url:http://en.wikipedia.org/wiki/Diabetes url:http://en.wikipedia.org/wiki/Diabetes_mellitus_type_1 ICD10CM:K64.5 ICD9CM:455.4 SNOMEDCT_US_2016_03_01:155474006 SNOMEDCT_US_2016_03_01:157525008 SNOMEDCT_US_2016_03_01:211490002 SNOMEDCT_US_2016_03_01:26373009 SNOMEDCT_US_2016_03_01:269372002 UMLS_CUI:C0155784 External thrombosed haemorrhoids Thrombosed external hemorrhoids disease_ontology DOID:9745 perianal hematoma External thrombosed haemorrhoids SNOMEDCT_2005_07_31:155474006 Thrombosed external hemorrhoids SNOMEDCT_2005_07_31:26373009 A pelvic varix disease characterized by swollen, inflamed veins around the anus or lower rectum. ICD10CM:K64 ICD9CM:455 MESH:D006484 NCI:C26792 SNOMEDCT_US_2016_03_01:155469003 SNOMEDCT_US_2016_03_01:155477004 SNOMEDCT_US_2016_03_01:195472000 SNOMEDCT_US_2016_03_01:70153002 UMLS_CUI:C0019112 hemorrhoidal disease disease_ontology DOID:9746 hemorrhoid A pelvic varix disease characterized by swollen, inflamed veins around the anus or lower rectum. url:http://en.wikipedia.org/wiki/Hemorrhoid url:http://www.ncbi.nlm.nih.gov/pubmed/?term=19725283 url:http://www.nlm.nih.gov/medlineplus/hemorrhoids.html ICD9CM:455.6 SNOMEDCT_US_2016_03_01:82985000 UMLS_CUI:C0041844 disease_ontology DOID:9749 internal hemorrhoid Baker's Cyst disease_ontology DOID:9751 popliteal cyst true Baker's Cyst NCI2004_11_17:C34935 disease_ontology DOID:9753 rupture of synovium true ICD9CM:727.49 UMLS_CUI:C0158336 disease_ontology DOID:9754 ganglion or cyst of synovium/tendon/bursa disease_ontology DOID:9761 arthropathy associated with dermatological disorder true Cyanotic attacks of newborn disease_ontology DOID:9762 perinatal cyanotic attack true Cyanotic attacks of newborn ICD9CM_2006:770.83 calculus of gallbladder with cholecystitis (disorder) cholecystitis with Cholelithiasis disease_ontology DOID:9764 biliary calculus with cholecystitis true calculus of gallbladder with cholecystitis (disorder) SNOMEDCT_2005_07_31:25924004 cholecystitis with Cholelithiasis NCI2004_11_17:C35332 Emphysematous cholecystitis is a bacterial infectious disease consisting of an inflammation of the gallbladder characterized by air-filled expansions in interstitial or subcutaneous tissues. MESH:D041882 NCI:C35592 SNOMEDCT_US_2016_03_01:95558008 UMLS_CUI:C0521610 Gaseous pericholecystitis disease_ontology DOID:9765 emphysematous cholecystitis Emphysematous cholecystitis is a bacterial infectious disease consisting of an inflammation of the gallbladder characterized by air-filled expansions in interstitial or subcutaneous tissues. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=choleysistitis url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=emphysematous Gaseous pericholecystitis SNOMEDCT_2005_07_31:95558008 MESH:C536762 NCI:C35792 SNOMEDCT_US_2016_03_01:448286002 UMLS_CUI:C1337035 disease_ontology DOID:9766 xanthogranulomatous cholecystitis MESH:D017682 UMLS_CUI:C0206146 disease_ontology DOID:9767 myocardial stunning ICD10CM:I25.3 MESH:D006322 SNOMEDCT_US_2016_03_01:155317009 SNOMEDCT_US_2016_03_01:194847002 SNOMEDCT_US_2016_03_01:65340007 UMLS_CUI:C0018789 cardiac aneurysm disease_ontology DOID:9768 heart aneurysm cardiac aneurysm CSP2005:1393-3252 disease_ontology DOID:9770 Retracted nipple associated with childbirth true ICD10CM:P61.0 ICD9CM:776.1 SNOMEDCT_US_2016_03_01:206514004 SNOMEDCT_US_2016_03_01:23205009 UMLS_CUI:C0158991 disease_ontology DOID:9771 transient neonatal thrombocytopenia disease_ontology DOID:9772 hematological disease of fetus and newborn true ICD10CM:C50.41 ICD9CM:174.4 SNOMEDCT_US_2016_03_01:188154003 UMLS_CUI:C0153552 disease_ontology DOID:9773 female breast upper-outer quadrant cancer ICD10CM:I50.30 ICD9CM:428.3 ICD9CM:428.30 MESH:D054144 SNOMEDCT_US_2016_03_01:418304008 UMLS_CUI:C1135196 disease_ontology DOID:9775 diastolic heart failure ICD9CM:363.41 SNOMEDCT_US_2016_03_01:38513001 UMLS_CUI:C0154891 disease_ontology DOID:9776 Senile atrophy of choroid A syndrome that is a functional bowel disorder characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause. ICD10CM:K58 ICD10CM:K58.9 ICD9CM:564.1 KEGG:05321 MESH:D043183 NCI:C82343 SNOMEDCT_US_2016_03_01:10743008 SNOMEDCT_US_2016_03_01:155783000 SNOMEDCT_US_2016_03_01:192434000 SNOMEDCT_US_2016_03_01:197124009 SNOMEDCT_US_2016_03_01:266525002 UMLS_CUI:C0022104 IBD Irritable colon disease_ontology Psychogenic IBS DOID:9778 irritable bowel syndrome A syndrome that is a functional bowel disorder characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause. url:http://digestive.niddk.nih.gov/ddiseases/pubs/ibs/ url:http://en.wikipedia.org/wiki/Irritable_bowel_syndrome IBD CSP2005:1248-5871 Irritable colon MTHICD9_2006:564.1 Psychogenic IBS SNOMEDCT_2005_07_31:10743008 ICD10CM:K59.9 ICD9CM:564.9 SNOMEDCT_US_2016_03_01:81120009 UMLS_CUI:C0016807 disease_ontology DOID:9779 bowel dysfunction A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by Trichinella spiralis, Trichinella nativa or Trichinella britovi . Intestinal invasion causes diarrhea, abdominal pain and vomiting. Larval migration into muscle tissues can cause periorbital and facial edema, conjunctivitis, fever, myalgias, splinter hemorrhages, rashes, and blood eosinophilia. Myocarditis, central nervous system involvement, and pneumonitis can also occur. ICD10CM:B75 ICD9CM:124 MESH:D014235 NCI:C85199 SNOMEDCT_US_2016_03_01:154415009 SNOMEDCT_US_2016_03_01:266222003 SNOMEDCT_US_2016_03_01:709018004 SNOMEDCT_US_2016_03_01:88264003 UMLS_CUI:C0040896 Trichinella spiralis infection disease_ontology DOID:9784 trichinosis A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by Trichinella spiralis, Trichinella nativa or Trichinella britovi . Intestinal invasion causes diarrhea, abdominal pain and vomiting. Larval migration into muscle tissues can cause periorbital and facial edema, conjunctivitis, fever, myalgias, splinter hemorrhages, rashes, and blood eosinophilia. Myocarditis, central nervous system involvement, and pneumonitis can also occur. url:http://www.dpd.cdc.gov/dpdx/HTML/Trichinellosis.htm Trichinella spiralis infection MTHICD9_2006:124 A paralytic poliomyelitis that results_in destruction located_in motor neurons of brainstem, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom difficulty breathing, has_symptom difficulty speaking, has_symptom difficulty swallowing, and has_symptom difficulty chewing. ICD9CM:045.0 MESH:D011052 SNOMEDCT_US_2016_03_01:186475007 SNOMEDCT_US_2016_03_01:398327006 SNOMEDCT_US_2016_03_01:54839009 SNOMEDCT_US_2016_03_01:64764001 UMLS_CUI:C0032372 bulbar poliomyelitis disease_ontology DOID:9786 bulbar polio A paralytic poliomyelitis that results_in destruction located_in motor neurons of brainstem, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom difficulty breathing, has_symptom difficulty speaking, has_symptom difficulty swallowing, and has_symptom difficulty chewing. url:http://en.wikipedia.org/wiki/Poliomyelitis disease_ontology DOID:9787 Foreign body granuloma of muscle true ICD10CM:M60.1 ICD9CM:728.81 NCI:C26985 SNOMEDCT_US_2016_03_01:55925001 UMLS_CUI:C0158362 Interstitial myositis disease_ontology DOID:9788 myositis fibrosa Interstitial myositis ICD9CM_2006:728.81 ICD9CM:363.43 SNOMEDCT_US_2016_03_01:86103006 UMLS_CUI:C0002983 disease_ontology DOID:979 angioid streaks of choroid A parasitic helminthiasis infectious disease that involves zoonotic infection of humans by the larvae of Toxocara canis or Toxocara cati. The larvae invade multiple tissues like liver, heart, lungs, brain, muscle and eyes causing various symptoms including fever, anorexia, weight loss, cough, wheezing, rashes, hepatosplenomegaly, hypereosinophilia and ophthalmologic lesions. DOID:9791 ICD10CM:B83.0 MESH:D007816 NCI:C34758 SNOMEDCT_US_2016_03_01:87121004 UMLS_CUI:C0023049 Infection by Toxascaris (disorder) Toxocara infection visceral larva migrans disease_ontology DOID:9790 toxocariasis A parasitic helminthiasis infectious disease that involves zoonotic infection of humans by the larvae of Toxocara canis or Toxocara cati. The larvae invade multiple tissues like liver, heart, lungs, brain, muscle and eyes causing various symptoms including fever, anorexia, weight loss, cough, wheezing, rashes, hepatosplenomegaly, hypereosinophilia and ophthalmologic lesions. url:http://www.dpd.cdc.gov/dpdx/HTML/Toxocariasis.htm Infection by Toxascaris (disorder) SNOMEDCT_2005_07_31:76695000 Toxocara infection MTHICD9_2006:128.0 ICD10CM:H31.2 ICD10CM:H31.20 ICD9CM:363.5 ICD9CM:363.50 SNOMEDCT_US_2016_03_01:193465004 SNOMEDCT_US_2016_03_01:193473008 SNOMEDCT_US_2016_03_01:74469006 UMLS_CUI:C0154893 disease_ontology DOID:9794 hereditary choroidal atrophy DOID:9793 meningeal tuberculosis tuberculoma of meninges disease_ontology DOID:9795 tuberculous meningitis true ICD10CM:H44.30 ICD10CM:H44.5 ICD9CM:360.2 ICD9CM:360.20 ICD9CM:360.4 ICD9CM:360.40 SNOMEDCT_US_2016_03_01:193275003 SNOMEDCT_US_2016_03_01:193279009 SNOMEDCT_US_2016_03_01:193285002 SNOMEDCT_US_2016_03_01:193292007 SNOMEDCT_US_2016_03_01:62585004 UMLS_CUI:C0154777 disease_ontology DOID:9799 eye degenerative disease disease_ontology DOID:98 staphylococcal infectious disease true ICD10CM:H31.1 ICD10CM:H31.10 ICD9CM:363.4 ICD9CM:363.40 MESH:C535358 OMIM:215500 SNOMEDCT_US_2016_03_01:193461008 SNOMEDCT_US_2016_03_01:193464000 SNOMEDCT_US_2016_03_01:247199007 SNOMEDCT_US_2016_03_01:267617003 SNOMEDCT_US_2016_03_01:406446000 SNOMEDCT_US_2016_03_01:47638000 UMLS_CUI:C0344297 Choroidal degenerations disease_ontology DOID:980 OMIM mapping confirmed by DO. [SN]. choroidal sclerosis Choroidal degenerations ICD9CM_2006:363.4 A gastrointestinal tuberculosis that results_in inflammation located_in peritoneum, which results in formation of tubercles. The infection has_symptom abdominal discomfort, has_symptom pain, has_symptom distention from gas or fluid, has_symptom digestive disturbances and has_symptom emaciation. ICD10CM:A18.31 ICD9CM:014.0 MESH:D014395 SNOMEDCT_US_2016_03_01:197170002 SNOMEDCT_US_2016_03_01:31838005 SNOMEDCT_US_2016_03_01:44572005 UMLS_CUI:C0041325 disease_ontology DOID:9801 tuberculous peritonitis A gastrointestinal tuberculosis that results_in inflammation located_in peritoneum, which results in formation of tubercles. The infection has_symptom abdominal discomfort, has_symptom pain, has_symptom distention from gas or fluid, has_symptom digestive disturbances and has_symptom emaciation. url:http://books.google.com/books?id=130IVak1eCwC&pg=PA695&lpg=PA695&dq#v=onepage&q=&f=false A pneumococcal infectious disease that involves inflammation of the peritoneum caused by streptococcal infection. The symptoms include diarrhea, fever, fasciitis and influenza-like syndrome. disease_ontology DOID:9804 pneumococcal peritonitis true A pneumococcal infectious disease that involves inflammation of the peritoneum caused by streptococcal infection. The symptoms include diarrhea, fever, fasciitis and influenza-like syndrome. url:http://www.ncbi.nlm.nih.gov/sites/entrez/20013929 disease_ontology DOID:9805 pneumococcal infectious disease true A hypersensitivity reaction type II disease that is characterized by glomerulonephritis located_in kidney and hemorrhaging located_in lung. DOID:9812 ICD10CM:M31.0 ICD9CM:446.21 MESH:D019867 NCI:C34649 NCI:C84566 OMIM:233450 SNOMEDCT_US_2016_03_01:155445002 SNOMEDCT_US_2016_03_01:195351002 SNOMEDCT_US_2016_03_01:236506009 SNOMEDCT_US_2016_03_01:266323005 SNOMEDCT_US_2016_03_01:50581000 UMLS_CUI:C0403529 anti-glomerular basement membrane disease disease_ontology DOID:9808 OMIM mapping confirmed by DO. [SN]. Goodpasture syndrome A hypersensitivity reaction type II disease that is characterized by glomerulonephritis located_in kidney and hemorrhaging located_in lung. url:http://en.wikipedia.org/wiki/Goodpasteure%27s_syndrome ICD10CM:D69.0 ICD10CM:M31.0 ICD9CM:446.2 ICD9CM:446.20 MESH:D018366 NCI:C35119 SNOMEDCT_US_2016_03_01:195350001 SNOMEDCT_US_2016_03_01:195352009 SNOMEDCT_US_2016_03_01:60555002 UMLS_CUI:C0151436 disease_ontology DOID:9809 hypersensitivity vasculitis ICD10CM:H31.12 ICD9CM:363.42 SNOMEDCT_US_2016_03_01:1843008 SNOMEDCT_US_2016_03_01:193463006 UMLS_CUI:C0154892 disease_ontology DOID:981 diffuse secondary choroid atrophy ICD10CM:M30.0 ICD9CM:446.0 MESH:D010488 NCI:C26847 SNOMEDCT_US_2016_03_01:155441006 SNOMEDCT_US_2016_03_01:155445002 SNOMEDCT_US_2016_03_01:195347004 SNOMEDCT_US_2016_03_01:266323005 SNOMEDCT_US_2016_03_01:286960005 SNOMEDCT_US_2016_03_01:66121003 UMLS_CUI:C0031036 disease_ontology DOID:9810 polyarteritis nodosa ICD9CM:363.51 SNOMEDCT_US_2016_03_01:193466003 SNOMEDCT_US_2016_03_01:42175004 UMLS_CUI:C0154895 disease_ontology DOID:9811 partial circumpapillary choroid dystrophy Rheumatic carditis disease_ontology DOID:9814 rheumatic heart disease true Rheumatic carditis SNOMEDCT_2005_07_31:201793007 disease_ontology DOID:9815 Recent retinal detachment, total or subtotal true disease_ontology DOID:9816 partial recent retinal detachment with giant tear true DOID:12513 DOID:12515 DOID:9817 DOID:9826 disease_ontology DOID:9818 retinal defect true disease_ontology DOID:9819 delimited old retinal detachment true disease_ontology DOID:982 disorganized type schizophrenia subchronic state with acute exacerbation true ICD9CM:363.54 SNOMEDCT_US_2016_03_01:12778004 SNOMEDCT_US_2016_03_01:193469005 SNOMEDCT_US_2016_03_01:392049002 UMLS_CUI:C0154898 Choroidal dystrophy, serpiginous disease_ontology DOID:9820 central gyrate choroidal dystrophy Choroidal dystrophy, serpiginous MTHICD9_2006:363.54 ICD10CM:H31.21 ICD9CM:363.55 MESH:D015794 NCI:C34469 OMIM:303100 SNOMEDCT_US_2016_03_01:75241009 UMLS_CUI:C0008525 progressive Choroidal Atrophy disease_ontology DOID:9821 OMIM mapping confirmed by DO. [SN]. choroideremia progressive Choroidal Atrophy NCI2004_11_17:C34469 ICD9CM:363.53 OMIM:613105 SNOMEDCT_US_2016_03_01:193468002 SNOMEDCT_US_2016_03_01:80526002 UMLS_CUI:C0339427 Choroidal dystrophy, central areolar disease_ontology DOID:9822 OMIM mapping confirmed by DO. [SN]. partial central choroid dystrophy Choroidal dystrophy, central areolar MTHICD9_2006:363.53 disease_ontology DOID:9823 Partial recent retinal detachment with retinal dialysis true disease_ontology DOID:9824 total or subtotal old retinal detachment true ICD10CM:Q74.0 ICD9CM:755.53 MESH:C562408 OMIM:179300 SNOMEDCT_US_2016_03_01:33313004 UMLS_CUI:C0158761 disease_ontology DOID:9827 OMIM mapping confirmed by DO. [SN]. radioulnar synostosis A withdrawal disorder that is characterized by a group of problems that occur in a newborn who was exposed to addictive illegal or prescription drugs while in the mother's womb or postnatally following the discontinuance of drug treatment. DOID:6679 ICD10CM:P96.1 ICD9CM:779.5 MESH:D009357 NCI:C35808 NCI:C87101 SNOMEDCT_US_2016_03_01:414819007 SNOMEDCT_US_2016_03_01:61628006 UMLS_CUI:C0027609 UMLS_CUI:C1332133 Drug withdrawal syndrome in newborn disease_ontology DOID:9828 neonatal abstinence syndrome A withdrawal disorder that is characterized by a group of problems that occur in a newborn who was exposed to addictive illegal or prescription drugs while in the mother's womb or postnatally following the discontinuance of drug treatment. url:http://en.wikipedia.org/wiki/Neonatal_abstinence_syndrome url:http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0004566/ Drug withdrawal syndrome in newborn SNOMEDCT_2005_07_31:61628006 disease_ontology DOID:9829 drug abstinence syndrome or symptom true ICD10CM:H52.0 ICD9CM:367.0 MESH:D006956 SNOMEDCT_US_2016_03_01:155132008 SNOMEDCT_US_2016_03_01:38101003 UMLS_CUI:C0020490 Far-sightedness hypermetropia disease_ontology DOID:9834 hyperopia Far-sightedness MTHICD9_2006:367.0 hypermetropia ICD9CM_2006:367.0 EFO:0003908 ICD10CM:H52.7 MESH:D012030 NCI:C87145 SNOMEDCT_US_2016_03_01:21324001 SNOMEDCT_US_2016_03_01:267723000 SNOMEDCT_US_2016_03_01:314027003 SNOMEDCT_US_2016_03_01:39021009 UMLS_CUI:C0034951 disease_ontology DOID:9835 refractive error disease_ontology DOID:9836 refraction or accommodation disorder true ICD10CM:H50.2 ICD9CM:378.31 MESH:D013285 NCI:C34716 SNOMEDCT_US_2016_03_01:194109005 SNOMEDCT_US_2016_03_01:40608009 UMLS_CUI:C0020575 disease_ontology DOID:9837 hypertropia ICD10CM:H50.41 ICD9CM:378.33 SNOMEDCT_US_2016_03_01:70486007 UMLS_CUI:C0152209 disease_ontology DOID:9838 cyclotropia ICD10CM:H50.43 ICD9CM:378.35 SNOMEDCT_US_2016_03_01:18369000 SNOMEDCT_US_2016_03_01:194112008 SNOMEDCT_US_2016_03_01:419494007 UMLS_CUI:C0155336 disease_ontology DOID:9839 accommodative esotropia DOID:983 Costen's syndrome Myofascial pain - dysfunction syndrome of TMJ TMJ SYNDROME TMJ-pain-dysfunction syndrome temporomandibular dysfunction syndrome temporomandibular joint dysfunction syndrome disease_ontology DOID:984 temporomandibular joint disorder true Costen's syndrome SNOMEDCT_2005_07_31:196430007 Myofascial pain - dysfunction syndrome of TMJ SNOMEDCT_2005_07_31:13612005 SNOMEDCT_2005_07_31:386207004 TMJ SYNDROME MTH:742 TMJ-pain-dysfunction syndrome MTHICD9_2006:524.60 temporomandibular dysfunction syndrome CSP2005:2139-2181 Esotropia is a strabismus in which the eye turns inward toward the nose. ICD10CM:H50.0 ICD10CM:H50.00 ICD9CM:378.0 ICD9CM:378.00 MESH:D004948 NCI:C34596 SNOMEDCT_US_2016_03_01:155193001 SNOMEDCT_US_2016_03_01:16596007 SNOMEDCT_US_2016_03_01:194074002 SNOMEDCT_US_2016_03_01:194085000 UMLS_CUI:C0014877 Convergence in manifest squint Internal Strabismus crossed eyes disease_ontology DOID:9840 esotropia Esotropia is a strabismus in which the eye turns inward toward the nose. URL:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=cross-eye+ Convergence in manifest squint SNOMEDCT_2005_07_31:246711006 Internal Strabismus NCI2004_11_17:C34596 crossed eyes CSP2005:1115-2310 ICD9CM:378.32 NCI:C42086 SNOMEDCT_US_2016_03_01:29491004 UMLS_CUI:C0152208 disease_ontology DOID:9841 hypotropia ICD9CM:363.52 SNOMEDCT_US_2016_03_01:59753003 UMLS_CUI:C0154896 Circumpapillary dystrophy of choroid, total disease_ontology DOID:9842 total circumpapillary dystrophy of choroid Circumpapillary dystrophy of choroid, total ICD9CM_2006:363.52 ICD10CM:H50.42 ICD9CM:378.34 SNOMEDCT_US_2016_03_01:14785004 SNOMEDCT_US_2016_03_01:194111001 UMLS_CUI:C0339611 disease_ontology DOID:9843 monofixation syndrome ICD10CM:H81.3 ICD10CM:H81.39 ICD10CM:H81.399 ICD9CM:386.1 ICD9CM:386.19 SNOMEDCT_US_2016_03_01:194353007 SNOMEDCT_US_2016_03_01:194359006 SNOMEDCT_US_2016_03_01:194692006 UMLS_CUI:C0029706 disease_ontology DOID:9847 peripheral vertigo ICD10CM:H81.0 MESH:D018159 SNOMEDCT_US_2016_03_01:194346003 SNOMEDCT_US_2016_03_01:27621000119100 SNOMEDCT_US_2016_03_01:70831000119103 SNOMEDCT_US_2016_03_01:9794007 UMLS_CUI:C0206586 labyrinthine hydrops disease_ontology DOID:9848 endolymphatic hydrops labyrinthine hydrops CSP2005:0977-6437 A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss. ICD10CM:H81.0 ICD10CM:H81.09 ICD9CM:386.0 ICD9CM:386.00 MESH:D008575 OMIM:156000 SNOMEDCT_US_2016_03_01:13445001 SNOMEDCT_US_2016_03_01:155235002 SNOMEDCT_US_2016_03_01:194346003 SNOMEDCT_US_2016_03_01:194347007 SNOMEDCT_US_2016_03_01:194352002 UMLS_CUI:C0025281 Meniere disease Mnire's vertigo Otogenic vertigo disease_ontology DOID:9849 OMIM mapping confirmed by DO. [SN]. Meniere's disease A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss. url:http://en.wikipedia.org/wiki/M%C3%A9ni%C3%A8re%27s_disease Meniere disease SNOMEDCT_2005_07_31:194346003 Mnire's vertigo SNOMEDCT_2005_07_31:13445001 Otogenic vertigo MTHICD9_2006:386.19 disease_ontology DOID:985 disorganized type schizophrenia subchronic state true ICD10CM:G24.4 ICD9CM:333.82 MESH:D009069 SNOMEDCT_US_2016_03_01:155007009 SNOMEDCT_US_2016_03_01:192861006 SNOMEDCT_US_2016_03_01:267689009 SNOMEDCT_US_2016_03_01:49386006 UMLS_CUI:C0152115 Oro-facial dyskinesia disease_ontology DOID:9854 lingual-facial-buccal dyskinesia Oro-facial dyskinesia SNOMEDCT_2005_07_31:155007009 disease_ontology DOID:9855 syphilitic interstitial keratitis true A syphilis that results_in a multisystem infection in the fetus via the placenta. ICD10CM:A50 ICD10CM:A50.9 ICD9CM:090 ICD9CM:090.9 MESH:D013590 NCI:C84649 SNOMEDCT_US_2016_03_01:154380005 SNOMEDCT_US_2016_03_01:186845009 SNOMEDCT_US_2016_03_01:187352005 SNOMEDCT_US_2016_03_01:35742006 UMLS_CUI:C0039131 disease_ontology DOID:9856 congenital syphilis A syphilis that results_in a multisystem infection in the fetus via the placenta. url:http://www.merckmanuals.com/professional/sec19/ch279/ch279d.html ICD10CM:H16.30 ICD9CM:370.50 SNOMEDCT_US_2016_03_01:1763009 SNOMEDCT_US_2016_03_01:193784002 UMLS_CUI:C0155088 disease_ontology DOID:9857 interstitial keratitis ICD10CM:H16.3 ICD9CM:370.5 SNOMEDCT_US_2016_03_01:193783008 SNOMEDCT_US_2016_03_01:193788004 UMLS_CUI:C0155087 disease_ontology DOID:9858 deep keratitis A hypersensitivity reaction type II disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots. EFO:0004192 ICD10CM:L63 ICD10CM:L63.9 ICD9CM:704.01 MESH:D000506 OMIM:104000 OMIM:610753 SNOMEDCT_US_2016_03_01:201131001 SNOMEDCT_US_2016_03_01:238727007 SNOMEDCT_US_2016_03_01:68225006 UMLS_CUI:C0002171 Circumscribed alopecia disease_ontology DOID:986 alopecia areata A hypersensitivity reaction type II disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots. ls:IEDB url:http://en.wikipedia.org/wiki/Alopecia_areata Circumscribed alopecia SNOMEDCT_2005_07_31:238727007 An extrapulmonary tuberculosis that results in formation of tiny lesions in all the organs. DOID:9862 ICD10CM:A19 ICD10CM:A19.9 ICD9CM:018 ICD9CM:018.9 ICD9CM:018.90 MESH:D014391 NCI:C35086 SNOMEDCT_US_2016_03_01:154291001 SNOMEDCT_US_2016_03_01:186280001 SNOMEDCT_US_2016_03_01:187295007 SNOMEDCT_US_2016_03_01:47604008 UMLS_CUI:C0041321 Disseminated tuberculosis (disorder) Tuberculosis miliaris disseminata (disorder) acute miliary tuberculosis generalized tuberculosis disease_ontology DOID:9861 miliary tuberculosis An extrapulmonary tuberculosis that results in formation of tiny lesions in all the organs. url:http://en.wikipedia.org/wiki/Disseminated_tuberculosis Disseminated tuberculosis (disorder) SNOMEDCT_2005_07_31:182159002 Tuberculosis miliaris disseminata (disorder) SNOMEDCT_2005_07_31:180213004 acute miliary tuberculosis ICD9CM_2006:018.0 disease_ontology DOID:9866 lactation disorder true ICD10CM:H35.38 ICD9CM:362.55 SNOMEDCT_US_2016_03_01:193389005 SNOMEDCT_US_2016_03_01:44115007 UMLS_CUI:C0271086 Toxic maculopathy of retina disease_ontology DOID:9867 toxic maculopathy Toxic maculopathy of retina ICD9CM_2006:362.55 ICD9CM:271.3 NCI:C34731 UMLS_CUI:C0021830 disease_ontology DOID:9868 intestinal disaccharidase deficiency ICD10CM:E74.12 ICD9CM:271.2 MESH:D005633 NCI:C84720 SNOMEDCT_US_2016_03_01:20052008 SNOMEDCT_US_2016_03_01:20290005 SNOMEDCT_US_2016_03_01:237962008 UMLS_CUI:C0016751 Fructosaemia Fructose-1,6-bisphosphate aldolase B deficiency Fructosemia disease_ontology DOID:9869 hereditary fructose intolerance syndrome Fructosaemia SNOMEDCT_2005_07_31:20290005 Fructose-1,6-bisphosphate aldolase B deficiency SNOMEDCT_2005_07_31:237962008 Fructosemia MTHICD9_2006:271.2 A hypotrichosis that is characterized by a loss of hair from the head or body. ICD10CM:L65.9 ICD9CM:704.0 ICD9CM:704.00 MESH:D000505 NCI:C50575 OMIM:300042 SNOMEDCT_US_2016_03_01:156408004 SNOMEDCT_US_2016_03_01:201129005 SNOMEDCT_US_2016_03_01:201130000 SNOMEDCT_US_2016_03_01:201157003 SNOMEDCT_US_2016_03_01:267810004 SNOMEDCT_US_2016_03_01:270504008 SNOMEDCT_US_2016_03_01:278040002 SNOMEDCT_US_2016_03_01:56317004 UMLS_CUI:C0002170 disease_ontology DOID:987 alopecia A hypotrichosis that is characterized by a loss of hair from the head or body. url:http://en.wikipedia.org/wiki/Alopecia url:http://www.omim.org/entry/109200?search=109200&highlight=109200 A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues. ICD10CM:E74.21 ICD9CM:271.1 MESH:D005693 NCI:C84723 OMIM:230350 OMIM:230400 SNOMEDCT_US_2016_03_01:154738008 SNOMEDCT_US_2016_03_01:190745006 SNOMEDCT_US_2016_03_01:190747003 SNOMEDCT_US_2016_03_01:190749000 SNOMEDCT_US_2016_03_01:267498002 SNOMEDCT_US_2016_03_01:38177000 UMLS_CUI:C0016952 Galactosaemia Galactose intolerance disease_ontology DOID:9870 OMIM mapping by NeuroDevNet. [LS]. galactosemia A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues. url:http://en.wikipedia.org/wiki/Galactosemia Galactosaemia SNOMEDCT_2005_07_31:154738008 Galactose intolerance SNOMEDCT_2005_07_31:190749000 ICD10CM:N34.0 ICD9CM:597.0 SNOMEDCT_US_2016_03_01:197899005 SNOMEDCT_US_2016_03_01:197900000 SNOMEDCT_US_2016_03_01:197901001 SNOMEDCT_US_2016_03_01:197902008 SNOMEDCT_US_2016_03_01:67277002 UMLS_CUI:C0156278 disease_ontology DOID:9877 urethral gland abscess DOID:13418 antepartum late vomiting of pregnancy disease_ontology DOID:9878 Excessive vomiting starting after 22 completed weeks of gestation true A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole. MESH:D008945 NCI:C50655 OMIM:157700 OMIM:607829 OMIM:610840 SNOMEDCT_US_2016_03_01:155386005 SNOMEDCT_US_2016_03_01:194977007 SNOMEDCT_US_2016_03_01:194980008 SNOMEDCT_US_2016_03_01:409712001 SNOMEDCT_US_2016_03_01:42069006 SNOMEDCT_US_2016_03_01:45023003 SNOMEDCT_US_2016_03_01:8074002 UMLS_CUI:C0026267 Barlow's syndrome floppy mitral valve disease_ontology mitral leaflet syndrome myxomatous mitral valve prolapse systolic click-murmur syndrome DOID:988 Xref MGI. OMIM mapping confirmed by DO. [SN]. mitral valve prolapse A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole. url:http://en.wikipedia.org/wiki/Mitral_valve_prolapse url:http://ghr.nlm.nih.gov/glossary=mitralvalveprolapse url:http://www.merckmanuals.com/professional/cardiovascular_disorders/valvular_disorders/mitral_valve_prolapse_mvp.html url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/564/viewAbstract Barlow's syndrome MTH:097 A tertiary syphilis that is manifested as aneurysm formation in the ascending aorta, caused by chronic inflammatory destruction of the vasa vasorum, insufficiency of the aortic valve, or narrowing of the coronary arteries. ICD9CM:093.8 ICD9CM:093.89 SNOMEDCT_US_2016_03_01:111823001 SNOMEDCT_US_2016_03_01:186880008 SNOMEDCT_US_2016_03_01:186882000 UMLS_CUI:C0029751 disease_ontology DOID:9880 cardiovascular syphilis A tertiary syphilis that is manifested as aneurysm formation in the ascending aorta, caused by chronic inflammatory destruction of the vasa vasorum, insufficiency of the aortic valve, or narrowing of the coronary arteries. url:http://emedicine.medscape.com/article/229461-overview#a0104 url:http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh OMIM:300376 SNOMEDCT_US_2016_03_01:111501005 SNOMEDCT_US_2016_03_01:193222002 UMLS_CUI:C0699741 Benign pseudohypertrophic muscular dystrophy benign congenital myopathy disease_ontology DOID:9883 OMIM mapping confirmed by DO. [SN]. Becker muscular dystrophy A myopathy is characterized by progressive skeletal muscle weakness degeneration. ICD10CM:G71.0 ICD9CM:359.1 MESH:D009136 NCI:C84910 OMIM:158800 OMIM:159050 OMIM:309930 OMIM:309950 OMIM:310000 OMIM:310095 OMIM:600416 SNOMEDCT_US_2016_03_01:155095006 SNOMEDCT_US_2016_03_01:193225000 SNOMEDCT_US_2016_03_01:193236007 SNOMEDCT_US_2016_03_01:193257004 SNOMEDCT_US_2016_03_01:267712004 SNOMEDCT_US_2016_03_01:44292004 SNOMEDCT_US_2016_03_01:73297009 UMLS_CUI:C0026850 disease_ontology DOID:9884 muscular dystrophy A myopathy is characterized by progressive skeletal muscle weakness degeneration. url:http://en.wikipedia.org/wiki/Muscular_dystrophy url:http://www.ninds.nih.gov/disorders/md/md.htm ICD10CM:H50.05 ICD9CM:378.05 SNOMEDCT_US_2016_03_01:194080005 SNOMEDCT_US_2016_03_01:39837002 UMLS_CUI:C0152205 disease_ontology DOID:9888 alternating esotropia disease_ontology DOID:9889 alternating esotropia with A pattern true disease_ontology DOID:9890 intermittent alternating esotropia true disease_ontology DOID:9891 alternating esotropia with V pattern true ICD10CM:I77.4 ICD9CM:447.4 SNOMEDCT_US_2016_03_01:9250002 UMLS_CUI:C0152098 Celiac artery compression syndrome Harjola-Marable syndrome Marable's syndrome disease_ontology DOID:9892 median arcuate ligament syndrome Celiac artery compression syndrome ICD9CM_2006:447.4 ICD10CM:K05.4 ICD9CM:523.5 MESH:D010520 UMLS_CUI:C0600298 disease_ontology DOID:9893 periodontosis DOID:10635 DOID:10636 DOID:10637 DOID:10638 DOID:10639 DOID:10640 DOID:10641 DOID:9897 ICD10CM:M12.20 ICD9CM:719.2 ICD9CM:719.20 SNOMEDCT_US_2016_03_01:202423001 SNOMEDCT_US_2016_03_01:202454002 SNOMEDCT_US_2016_03_01:34671005 SNOMEDCT_US_2016_03_01:95411002 UMLS_CUI:C0158168 disease_ontology DOID:9898 villonodular synovitis disease_ontology DOID:9899 glaucoma associated with tumors or cysts true An atrioventricular block characterized by the presence of conduction system disease of any form, which is diagnosed on or before 28 days of life. ICD10CM:Q24.6 ICD9CM:746.86 MESH:C535758 OMIM:234700 SNOMEDCT_US_2016_03_01:156924006 SNOMEDCT_US_2016_03_01:204381004 SNOMEDCT_US_2016_03_01:204382006 SNOMEDCT_US_2016_03_01:204385008 SNOMEDCT_US_2016_03_01:46619002 UMLS_CUI:C0149530 disease_ontology DOID:990 OMIM mapping confirmed by DO. [SN]. congenital heart block An atrioventricular block characterized by the presence of conduction system disease of any form, which is diagnosed on or before 28 days of life. url:http://www.ncbi.nlm.nih.gov/pubmed/?term=22368629 Psychogenic paranoid psychosis disease_ontology DOID:9900 protracted reactive paranoid psychosis true Psychogenic paranoid psychosis ICD9CM_2006:298.4 A blepharitis that is characterized as a cyst in the eyelid that is caused by inflammation of a blocked meibomian gland, usually on the upper eyelid. ICD10CM:H00.1 ICD9CM:373.2 MESH:D017043 NCI:C26717 SNOMEDCT_US_2016_03_01:1482004 SNOMEDCT_US_2016_03_01:155172004 SNOMEDCT_US_2016_03_01:155173009 SNOMEDCT_US_2016_03_01:267736000 SNOMEDCT_US_2016_03_01:397514009 UMLS_CUI:C0007933 Chalazion meibomian gland lipogranuloma disease_ontology DOID:9903 meibomian cyst A blepharitis that is characterized as a cyst in the eyelid that is caused by inflammation of a blocked meibomian gland, usually on the upper eyelid. url:http://en.wikipedia.org/wiki/Chalazion Chalazion ICD9CM_2006:373.2 ICD10CM:L65.2 MESH:D000507 NCI:C82859 SNOMEDCT_US_2016_03_01:201150001 SNOMEDCT_US_2016_03_01:27382006 UMLS_CUI:C0002173 Alopecia mucinosa disease_ontology DOID:9905 follicular mucinosis Alopecia mucinosa SNOMEDCT_2005_07_31:27382006 ICD10CM:H00.02 ICD9CM:373.12 SNOMEDCT_US_2016_03_01:15750009 SNOMEDCT_US_2016_03_01:397514009 SNOMEDCT_US_2016_03_01:414521009 SNOMEDCT_US_2016_03_01:95752007 UMLS_CUI:C0085690 disease_ontology DOID:9908 internal hordeolum Hordeolum is a sequelae of infectious and parasitic disease consisting of an infection of the sebaceous glands at the base of the eyelashes. Styes are generally caused by a Staphylococcus aureus bacterial infection. ICD10CM:H00.01 MESH:D006726 NCI:C118722 SNOMEDCT_US_2016_03_01:1489008 SNOMEDCT_US_2016_03_01:155172004 SNOMEDCT_US_2016_03_01:193912000 SNOMEDCT_US_2016_03_01:267736000 SNOMEDCT_US_2016_03_01:397513003 SNOMEDCT_US_2016_03_01:74612003 UMLS_CUI:C0019917 Boil of eyelid Furuncle of eyelid Stye disease_ontology DOID:9909 hordeolum Hordeolum is a sequelae of infectious and parasitic disease consisting of an infection of the sebaceous glands at the base of the eyelashes. Styes are generally caused by a Staphylococcus aureus bacterial infection. url:http://en.wikipedia.org/wiki/Hordeolum Boil of eyelid SNOMEDCT_2005_07_31:1489008 Furuncle of eyelid MTHICD9_2006:373.13 Stye MTHICD9_2006:373.11 ICD10CM:H16.01 ICD9CM:370.03 SNOMEDCT_US_2016_03_01:193761009 SNOMEDCT_US_2016_03_01:7426009 UMLS_CUI:C0155069 disease_ontology DOID:9910 central corneal ulcer ICD10CM:N43.1 ICD9CM:603.1 SNOMEDCT_US_2016_03_01:11666007 UMLS_CUI:C0156300 disease_ontology DOID:9911 infected hydrocele disease_ontology DOID:9912 hydrocele metastatic malignant tumor to the Axilla disease_ontology DOID:9913 axillary metastasis true metastatic malignant tumor to the Axilla NCI2004_11_17:C35748 Ca ribs/sternum/clavicle disease_ontology DOID:9915 malignant neoplasm of ribs, sternum and clavicle true Ca ribs/sternum/clavicle SNOMEDCT_2005_07_31:154496009 disease_ontology DOID:9916 secondary malignant neoplasm to the chest wall true disease_ontology DOID:9919 malignant neoplasm of thoracic esophagus true A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Omsk hemorrhagic fever virus, which is transmitted_by Dermacentor and transmitted_by Ixodes species of ticks. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom pain in lower and upper extremities, has_symptom stiff neck, has_symptom papulovesicular rash on the soft palate, has_symptom cervical lymphadenopathy, has_symptom conjunctival suffusion, has_symptom blood in the urine, and has_symptom blood in the sputum. ICD10CM:A98.1 ICD9CM:065.1 MESH:D006481 SNOMEDCT_US_2016_03_01:48113006 UMLS_CUI:C0019103 disease_ontology DOID:992 Omsk hemorrhagic fever A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Omsk hemorrhagic fever virus, which is transmitted_by Dermacentor and transmitted_by Ixodes species of ticks. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom pain in lower and upper extremities, has_symptom stiff neck, has_symptom papulovesicular rash on the soft palate, has_symptom cervical lymphadenopathy, has_symptom conjunctival suffusion, has_symptom blood in the urine, and has_symptom blood in the sputum. url:http://www.cdc.gov/ncidod/dvrd/Spb/mnpages/dispages/omsk.htm url:http://www.phac-aspc.gc.ca/msds-ftss/msds113e-eng.php url:http://www.springerlink.com/content/r2120r64x8x4511q/fulltext.pdf A specific developmental disorder that involves disordered motor skills where coordinated muscle movement is impaired. ICD10CM:F82 ICD9CM:315.4 MESH:D019957 NCI:C92561 SNOMEDCT_US_2016_03_01:192578006 SNOMEDCT_US_2016_03_01:27544004 UMLS_CUI:C0011757 disease_ontology DOID:9923 developmental coordination disorder A specific developmental disorder that involves disordered motor skills where coordinated muscle movement is impaired. url:http://www.nlm.nih.gov/medlineplus/ency/article/001533.htm disease_ontology DOID:9925 hyperostosis frontalis interna true disease_ontology DOID:9929 meningococcal meningitis true A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Flavivirus, which causes encephalitis or hemorrhagic fever in humans and transmitted_by arthropod vectors or transmitted_by contact with infected animal carcasses. disease_ontology DOID:993 Flavivirus infectious disease true A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Flavivirus, which causes encephalitis or hemorrhagic fever in humans and transmitted_by arthropod vectors or transmitted_by contact with infected animal carcasses. url:http://en.wikipedia.org/wiki/Flavivirus disease_ontology DOID:9930 primary Neisseriaceae infectious disease true An adrenal gland disease that is characterized by failure of the adrenal gland due to bleeding into the gland. DOID:12613 MESH:D014884 NCI:C85225 SNOMEDCT_US_2016_03_01:154709005 SNOMEDCT_US_2016_03_01:267484005 UMLS_CUI:C0043068 Meningococcal hemorrhagic adrenalitis WFS disease_ontology DOID:9931 Waterhouse-Friderichsen syndrome An adrenal gland disease that is characterized by failure of the adrenal gland due to bleeding into the gland. url:http://en.wikipedia.org/wiki/Waterhouse-Friderichsen_syndrome url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=waterhouse Meningococcal hemorrhagic adrenalitis MTHICD9_2006:036.3 ICD10CM:H04.4 ICD9CM:375.4 SNOMEDCT_US_2016_03_01:193990009 SNOMEDCT_US_2016_03_01:193991008 SNOMEDCT_US_2016_03_01:267653001 UMLS_CUI:C0155239 disease_ontology DOID:9935 chronic inflammation of lacrimal passage ICD10CM:H04.42 ICD9CM:375.41 SNOMEDCT_US_2016_03_01:26479009 UMLS_CUI:C0155240 disease_ontology DOID:9936 chronic canaliculitis ICD10CM:H04.41 ICD9CM:375.42 SNOMEDCT_US_2016_03_01:193990009 SNOMEDCT_US_2016_03_01:84627005 UMLS_CUI:C0149506 disease_ontology DOID:9937 chronic dacryocystitis ICD10CM:H04.30 ICD9CM:375.30 MESH:D003607 NCI:C34521 SNOMEDCT_US_2016_03_01:155183008 SNOMEDCT_US_2016_03_01:193987003 SNOMEDCT_US_2016_03_01:193989000 SNOMEDCT_US_2016_03_01:267738004 SNOMEDCT_US_2016_03_01:85777005 UMLS_CUI:C0010930 disease_ontology DOID:9938 dacryocystitis ICD9CM:375.43 NCI:C98968 SNOMEDCT_US_2016_03_01:42758002 UMLS_CUI:C0155241 lacrimal mucocele disease_ontology DOID:9939 dacryocystocele lacrimal mucocele ICD9CM_2006:375.43 disease_ontology DOID:9940 Congenital or acquired abnormality of vulva complicating pregnancy, childbirth, or the puerperium true NCI:C35346 SNOMEDCT_US_2016_03_01:76616003 UMLS_CUI:C0272394 disease_ontology DOID:9942 lymph node disease disease_ontology DOID:9943 syphilitic episcleritis true ICD10CM:H05.24 ICD9CM:376.31 SNOMEDCT_US_2016_03_01:194015008 SNOMEDCT_US_2016_03_01:89907009 UMLS_CUI:C0155267 disease_ontology DOID:9945 constant exophthalmos ICD9CM:365.3 SNOMEDCT_US_2016_03_01:1654001 SNOMEDCT_US_2016_03_01:193550003 UMLS_CUI:C0339578 Corticosteroid-induced glaucoma disease_ontology DOID:9946 steroid-induced glaucoma Corticosteroid-induced glaucoma ICD9CM_2006:365.3 ICD9CM:365.32 SNOMEDCT_US_2016_03_01:193549003 SNOMEDCT_US_2016_03_01:52519003 UMLS_CUI:C0339580 disease_ontology DOID:9948 residual stage corticosteroid-induced glaucoma A lymphoblastic leukemia that is characterized by over production of lymphoblasts. EFO:0000220 ICD10CM:C91.0 ICD10CM:C91.00 ICD9CM:204.0 NCI:C3167 OMIM:247640 OMIM:613065 OMIM:613067 OMIM:615545 ORDO:513 SNOMEDCT_US_2016_03_01:128822004 SNOMEDCT_US_2016_03_01:154588002 SNOMEDCT_US_2016_03_01:190034000 SNOMEDCT_US_2016_03_01:90151006 SNOMEDCT_US_2016_03_01:91857003 UMLS_CUI:C0023449 acute lymphoblastic leukemia disease_ontology DOID:9952 Xref MGI. acute lymphocytic leukemia A lymphoblastic leukemia that is characterized by over production of lymphoblasts. url:http://www.cancer.gov/dictionary?CdrID=46332 ICD10CM:C95.0 MESH:D015456 NCI:C4673 SNOMEDCT_US_2016_03_01:128818009 SNOMEDCT_US_2016_03_01:278453007 UMLS_CUI:C0023464 disease_ontology DOID:9953 B- and T-cell mixed leukemia SNOMEDCT_US_2016_03_01:277574007 UMLS_CUI:C0023483 Null cell acute lymphoblastic leukemia (disorder) disease_ontology DOID:9954 null-cell leukemia Null cell acute lymphoblastic leukemia (disorder) SNOMEDCT_2005_07_31:277574007 A congenital heart disease characterized by abnormal development of the left-sided structures of the heart. ICD10CM:Q23.4 ICD9CM:746.7 MESH:D018636 NCI:C98894 OMIM:241550 OMIM:614435 SNOMEDCT_US_2016_03_01:62067003 UMLS_CUI:C0152101 disease_ontology DOID:9955 Xref MGI. OMIM mapping confirmed by DO. [SN]. hypoplastic left heart syndrome A congenital heart disease characterized by abnormal development of the left-sided structures of the heart. url:http://en.wikipedia.org/wiki/Hypoplastic_left_heart_syndrome url:http://rarediseases.info.nih.gov/gard/6739/hypoplastic-left-heart-syndrome/resources/1 url:http://www.merckmanuals.com/professional/pediatrics/congenital_cardiovascular_anomalies/hypoplastic_left_heart_syndrome.html DOID:10894 DOID:14496 DOID:9956 MESH:D010522 SNOMEDCT_US_2016_03_01:41910004 UMLS_CUI:C0031111 disease_ontology DOID:9957 periostitis ICD10CM:N85.7 ICD9CM:621.4 MESH:D006409 SNOMEDCT_US_2016_03_01:38280009 UMLS_CUI:C0018948 Hematometra disease_ontology DOID:9958 hemometra Hematometra ICD9CM_2006:621.4 A coccidiosis that has_material_basis_in protozoan Toxoplasma gondii. The parasite effects most genera of warm-blooded animals, including humans, but the primary host is the felid (cat) family. Animals are infected by eating infected meat, by ingestion of feces of a cat that has itself recently been infected, or transmission_by mother to fetus. The symptoms include bilateral, nontender cervical or axillary lymphadenopathy, fever, malaise, myalgia, hepatosplenomegaly, anemia and leukopenia. DOID:13334 DOID:13339 DOID:13344 ICD10CM:B58 ICD10CM:B58.9 ICD9CM:130 ICD9CM:130.9 MESH:D014123 NCI:C3418 SNOMEDCT_US_2016_03_01:154423006 SNOMEDCT_US_2016_03_01:187192000 SNOMEDCT_US_2016_03_01:187200007 SNOMEDCT_US_2016_03_01:187515009 SNOMEDCT_US_2016_03_01:266225001 SNOMEDCT_US_2016_03_01:276203008 SNOMEDCT_US_2016_03_01:9399000 UMLS_CUI:C0040558 disseminated toxoplasmosis disease_ontology DOID:9965 toxoplasmosis A coccidiosis that has_material_basis_in protozoan Toxoplasma gondii. The parasite effects most genera of warm-blooded animals, including humans, but the primary host is the felid (cat) family. Animals are infected by eating infected meat, by ingestion of feces of a cat that has itself recently been infected, or transmission_by mother to fetus. The symptoms include bilateral, nontender cervical or axillary lymphadenopathy, fever, malaise, myalgia, hepatosplenomegaly, anemia and leukopenia. url:http://en.wikipedia.org/wiki/Toxoplasmosis ICD10CM:E67.1 ICD9CM:278.3 NCI:C26963 SNOMEDCT_US_2016_03_01:35487009 UMLS_CUI:C0154271 hypercarotinemia disease_ontology DOID:9969 carotenemia hypercarotinemia ICD9CM_2006:278.3 ICD10CM:N85.5 ICD9CM:665.2 MESH:D019687 SNOMEDCT_US_2016_03_01:156232008 SNOMEDCT_US_2016_03_01:156233003 SNOMEDCT_US_2016_03_01:199968003 SNOMEDCT_US_2016_03_01:199971006 SNOMEDCT_US_2016_03_01:267347009 SNOMEDCT_US_2016_03_01:27215002 UMLS_CUI:C0162482 disease_ontology DOID:997 uterine inversion EFO:0001073 ICD10CM:E66.9 ICD9CM:278.00 MESH:D009765 NCI:C3283 OMIM:601665 SNOMEDCT_US_2016_03_01:154776002 SNOMEDCT_US_2016_03_01:190963004 SNOMEDCT_US_2016_03_01:414915002 SNOMEDCT_US_2016_03_01:414916001 SNOMEDCT_US_2016_03_01:5476005 UMLS_CUI:C0028754 disease_ontology DOID:9970 OMIM mapping confirmed by DO. [SN]. obesity ICD10CM:E67.3 ICD9CM:278.4 SNOMEDCT_US_2016_03_01:190969000 SNOMEDCT_US_2016_03_01:27712000 UMLS_CUI:C1442839 disease_ontology DOID:9971 hypervitaminosis D ICD10CM:E67.0 ICD9CM:278.2 MESH:D006986 SNOMEDCT_US_2016_03_01:64559002 UMLS_CUI:C0020579 disease_ontology DOID:9972 hypervitaminosis A A substance-related disorder that involves the continued use of alcohol or other drugs despite problems related to use of the substance. NCI:C35458 SNOMEDCT_US_2016_03_01:103326000 SNOMEDCT_US_2016_03_01:255338002 UMLS_CUI:C0439857 disease_ontology DOID:9973 substance dependence A substance-related disorder that involves the continued use of alcohol or other drugs despite problems related to use of the substance. url:http://en.wikipedia.org/wiki/Drug_dependence A substance dependence that involves the continued use of drugs despite problems related to use of the substance. ICD9CM:304.6 ICD9CM:304.60 SNOMEDCT_US_2016_03_01:191859004 SNOMEDCT_US_2016_03_01:191860009 SNOMEDCT_US_2016_03_01:191864000 SNOMEDCT_US_2016_03_01:268644006 UMLS_CUI:C0029792 disease_ontology DOID:9974 drug dependence A substance dependence that involves the continued use of drugs despite problems related to use of the substance. url:http://en.wikipedia.org/wiki/Drug_dependence A drug dependence that is a psychological dependency on the regular use of cocaine. ICD10CM:F14.2 ICD9CM:304.2 ICD9CM:304.20 MESH:D019970 NCI:C34492 SNOMEDCT_US_2016_03_01:191829009 SNOMEDCT_US_2016_03_01:191830004 SNOMEDCT_US_2016_03_01:191834008 SNOMEDCT_US_2016_03_01:192254002 SNOMEDCT_US_2016_03_01:286934009 SNOMEDCT_US_2016_03_01:31956009 UMLS_CUI:C0600427 disease_ontology DOID:9975 cocaine dependence A drug dependence that is a psychological dependency on the regular use of cocaine. url:http://en.wikipedia.org/wiki/Cocaine_dependence An opiate dependence that involves the continued use of heroin despite problems related to use of the substance. MESH:D006556 NCI:C34694 SNOMEDCT_US_2016_03_01:191817000 SNOMEDCT_US_2016_03_01:192220003 SNOMEDCT_US_2016_03_01:231477003 UMLS_CUI:C0019337 disease_ontology DOID:9976 heroin dependence An opiate dependence that involves the continued use of heroin despite problems related to use of the substance. url:http://en.wikipedia.org/wiki/Opioid_dependence A drug dependence that involves the continued use of hallucinogenic drugs despite problems related to use of the substance. ICD10CM:F16.2 ICD9CM:304.5 ICD9CM:304.50 NCI:C34657 SNOMEDCT_US_2016_03_01:191847003 SNOMEDCT_US_2016_03_01:191848008 SNOMEDCT_US_2016_03_01:191852008 SNOMEDCT_US_2016_03_01:268643000 SNOMEDCT_US_2016_03_01:38247002 UMLS_CUI:C0018528 disease_ontology DOID:9977 hallucinogen dependence A drug dependence that involves the continued use of hallucinogenic drugs despite problems related to use of the substance. url:http://en.wikipedia.org/wiki/Hallucinogenic_drugs ICD10CM:N73.3 ICD9CM:614.5 SNOMEDCT_US_2016_03_01:198167003 SNOMEDCT_US_2016_03_01:198168008 SNOMEDCT_US_2016_03_01:198170004 SNOMEDCT_US_2016_03_01:266583006 SNOMEDCT_US_2016_03_01:85051008 UMLS_CUI:C0269032 disease_ontology DOID:9978 acute female pelvic peritonitis ICD9CM:710.5 MESH:D016603 SNOMEDCT_US_2016_03_01:95416007 UMLS_CUI:C0085179 Eosinophilia myalgia syndrome disease_ontology DOID:998 eosinophilia-myalgia syndrome Eosinophilia myalgia syndrome ICD9CM_2006:710.5 MESH:C537131 NCI:C6244 SNOMEDCT_US_2016_03_01:13048006 UMLS_CUI:C0271333 Lymphoma of the orbit disease_ontology DOID:9986 orbit lymphoma Lymphoma of the orbit NCI2004_11_17:C6244 NCI:C6095 SNOMEDCT_US_2016_03_01:699354006 UMLS_CUI:C1335131 orbital sarcoma disease_ontology DOID:9987 orbit sarcoma orbital sarcoma NCI2004_11_17:C6095 A tertiary syphilis that results_in infection located_in brain or located_in spinal cord. ICD10CM:A52.3 ICD9CM:094 ICD9CM:094.9 MESH:D009494 NCI:C84935 SNOMEDCT_US_2016_03_01:154384001 SNOMEDCT_US_2016_03_01:186884004 SNOMEDCT_US_2016_03_01:186895005 SNOMEDCT_US_2016_03_01:187356008 SNOMEDCT_US_2016_03_01:26039008 SNOMEDCT_US_2016_03_01:266210001 UMLS_CUI:C0027927 late neurosyphilis disease_ontology DOID:9988 tertiary neurosyphilis A tertiary syphilis that results_in infection located_in brain or located_in spinal cord. url:http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh url:http://www.nlm.nih.gov/medlineplus/ency/article/000703.htm metastatic tumor to the orbit secondary malignant neoplasm of orbit (disorder) disease_ontology DOID:9989 metastasis to the orbit true metastatic tumor to the orbit NCI2004_11_17:C8556 secondary malignant neoplasm of orbit (disorder) SNOMEDCT_2005_07_31:94453007 ICD10CM:D72.1 ICD9CM:288.3 MESH:D004802 MESH:D017681 SNOMEDCT_US_2016_03_01:165524009 SNOMEDCT_US_2016_03_01:191363000 SNOMEDCT_US_2016_03_01:27955006 SNOMEDCT_US_2016_03_01:418928000 UMLS_CUI:C0014457 Eosinophilic leukocytosis eosinophilia disease_ontology DOID:999 hypereosinophilic syndrome Eosinophilic leukocytosis MTHICD9_2006:288.3 ICD10CM:E16.2 ICD9CM:251.2 MESH:D007003 NCI:C3126 SNOMEDCT_US_2016_03_01:154691006 SNOMEDCT_US_2016_03_01:154693009 SNOMEDCT_US_2016_03_01:190433001 SNOMEDCT_US_2016_03_01:190436009 SNOMEDCT_US_2016_03_01:237630007 SNOMEDCT_US_2016_03_01:271327008 SNOMEDCT_US_2016_03_01:302866003 SNOMEDCT_US_2016_03_01:66694000 UMLS_CUI:C0020615 Hypoglycaemia disease_ontology DOID:9993 hypoglycemia Hypoglycaemia SNOMEDCT_2005_07_31:154691006 disease_ontology DOID:9995 endocrine and metabolic disturbances specific to the fetus and newborn true DOID:11697 DOID:11980 ICD10CM:O90.3 ICD9CM:674.5 SNOMEDCT_US_2016_03_01:16253001 UMLS_CUI:C0877208 antepartum peripartum cardiomyopathy postpartum peripartum cardiomyopathy disease_ontology DOID:9997 peripartum cardiomyopathy true