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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.", "xrefs" : [ "url:http://www.cfsph.iastate.edu/Factsheets/pdfs/epizootic_hemorrhagic_disease.pdf" ] }, "synonyms" : [ { "pred" : "hasRelatedSynonym", "val" : "EHD" } ], "basicPropertyValues" : [ { "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace", "val" : "disease_ontology" } ], "deprecated" : true } }, { "id" : "http://purl.obolibrary.org/obo/DOID_0050015", "lbl" : "obsolete Rocio virus encephalitis", "type" : "CLASS", "meta" : { "definition" : { "val" : "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.", "xrefs" : [ "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" ] }, "basicPropertyValues" : [ { "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace", "val" : "disease_ontology" } ], "deprecated" : true } }, { "id" : "http://purl.obolibrary.org/obo/DOID_0050024", "lbl" : "obsolete Ehrlichia ewingii ehrlichiosis", "type" : "CLASS", "meta" : { "subsets" : [ "http://purl.obolibrary.org/obo/doid#gram-negative_bacterial_infectious_disease", "http://purl.obolibrary.org/obo/doid#tick-borne_infectious_disease", "http://purl.obolibrary.org/obo/doid#zoonotic_infectious_disease" ], "basicPropertyValues" : [ { "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace", "val" : "disease_ontology" } ], "deprecated" : true } }, { "id" : "http://purl.obolibrary.org/obo/DOID_0050025", "lbl" : "human granulocytic anaplasmosis", "type" : "CLASS", "meta" : { "definition" : { "val" : "An ehrlichiosis that results in infection located in granular leukocyte, has_material_basis_in Anaplasma phagocytophilum, which is transmitted by lone star tick (Amblyomma americanum). 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The infection has_symptom fever, has_symptom eschar and has_symptom maculopapular rash.", "xrefs" : [ "url:http://jcm.asm.org/cgi/reprint/42/2/816", "url:http://www.cdc.gov/otherspottedfever/index.html" ] }, "subsets" : [ "http://purl.obolibrary.org/obo/doid#DO_infectious_disease_slim", "http://purl.obolibrary.org/obo/doid#gram-negative_bacterial_infectious_disease", "http://purl.obolibrary.org/obo/doid#tick-borne_infectious_disease", "http://purl.obolibrary.org/obo/doid#zoonotic_infectious_disease" ], "synonyms" : [ { "pred" : "hasExactSynonym", "val" : "Rickettsia africae spotted fever" }, { "pred" : "hasExactSynonym", "val" : "south african tick-bite fever" } ], "basicPropertyValues" : [ { "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId", "val" : "DOID:0050034" }, { "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId", "val" : "DOID:0050036" }, { "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace", "val" : "disease_ontology" } ] } }, { "id" : "http://purl.obolibrary.org/obo/DOID_0050041", "lbl" : "Astrakhan spotted fever", "type" : "CLASS", "meta" : { "definition" : { "val" : "A spotted fever that has_material_basis_in Rickettsia conorii subsp caspia, which is transmitted_by ticks (Rhipicephalus pumilio and Rhipicephalus sanguineus). 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The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities.", "xrefs" : [ "url:http://www.biomedcentral.com/1471-2180/5/11", "url:http://www.cdc.gov/otherspottedfever/index.html" ] }, "subsets" : [ "http://purl.obolibrary.org/obo/doid#DO_infectious_disease_slim", "http://purl.obolibrary.org/obo/doid#gram-negative_bacterial_infectious_disease", "http://purl.obolibrary.org/obo/doid#tick-borne_infectious_disease", "http://purl.obolibrary.org/obo/doid#zoonotic_infectious_disease" ], "basicPropertyValues" : [ { "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace", "val" : "disease_ontology" } ] } }, { "id" : "http://purl.obolibrary.org/obo/DOID_0050043", "lbl" : "Israeli tick typhus", "type" : "CLASS", "meta" : { "definition" : { "val" : "A spotted fever that has_material_basis_in Rickettsia conorii subsp israelensis, which is transmitted_by ticks (Rhipicephalus sanguineus). 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The infection has_symptom mild spotted fever, has_symptom eschar and has_symptom adenopathy.", "xrefs" : [ "url:https://www.cdc.gov/otherspottedfever/imported/index.html" ] }, "subsets" : [ "http://purl.obolibrary.org/obo/doid#DO_infectious_disease_slim", "http://purl.obolibrary.org/obo/doid#gram-negative_bacterial_infectious_disease", "http://purl.obolibrary.org/obo/doid#tick-borne_infectious_disease" ], "synonyms" : [ { "pred" : "hasExactSynonym", "val" : "Thai tick typhus" }, { "pred" : "hasRelatedSynonym", "val" : "FISF" } ], "basicPropertyValues" : [ { "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId", "val" : "DOID:0050048" }, { "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace", "val" : "disease_ontology" } ] } }, { "id" : "http://purl.obolibrary.org/obo/DOID_0050050", "lbl" : "Japanese spotted fever", "type" : "CLASS", "meta" : { "definition" : { "val" : "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.", "xrefs" : [ "url:http://www.cdc.gov/otherspottedfever/index.html", "url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2627607/pdf/9204291.pdf" ] }, "subsets" : [ "http://purl.obolibrary.org/obo/doid#DO_infectious_disease_slim", "http://purl.obolibrary.org/obo/doid#gram-negative_bacterial_infectious_disease", "http://purl.obolibrary.org/obo/doid#tick-borne_infectious_disease", "http://purl.obolibrary.org/obo/doid#zoonotic_infectious_disease" ], "synonyms" : [ { "pred" : "hasExactSynonym", "val" : "Rickettsia japonica spotted fever" }, { "pred" : "hasExactSynonym", "val" : "oriental spotted fever" } ], "basicPropertyValues" : [ { "pred" : "http://www.geneontology.org/formats/oboInOwl#hasAlternativeId", "val" : "DOID:0050049" }, { "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace", "val" : "disease_ontology" } ] } }, { "id" : "http://purl.obolibrary.org/obo/DOID_0050051", "lbl" : "Rickettsia parkeri spotted fever", "type" : "CLASS", "meta" : { "definition" : { "val" : "A spotted fever that has_material_basis_in Rickettsia parkeri, which is transmitted_by Gulf Coast tick (Amblyomma maculatum). 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The infection has_symptom fever, has_symptom headache, has_symptom myalgia, and has_symptom hemorrhagic manifestations.", "xrefs" : [ "url:http://jama.ama-assn.org/cgi/content/full/284/10/1237", "url:http://www.ncbi.nlm.nih.gov/sites/entrez/1799746" ] }, "subsets" : [ "http://purl.obolibrary.org/obo/doid#DO_infectious_disease_slim", "http://purl.obolibrary.org/obo/doid#zoonotic_infectious_disease" ], "basicPropertyValues" : [ { "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace", "val" : "disease_ontology" } ] } }, { "id" : "http://purl.obolibrary.org/obo/DOID_0050200", "lbl" : "Korean hemorrhagic fever", "type" : "CLASS", "meta" : { "definition" : { "val" : "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.", "xrefs" : [ "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:https://www.ncbi.nlm.nih.gov/pubmed/1349231" ] }, "subsets" : [ "http://purl.obolibrary.org/obo/doid#DO_infectious_disease_slim", "http://purl.obolibrary.org/obo/doid#zoonotic_infectious_disease" ], "basicPropertyValues" : [ { "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace", "val" : "disease_ontology" } ] } }, { "id" : "http://purl.obolibrary.org/obo/DOID_0050201", "lbl" : "nephropathia epidemica", "type" : "CLASS", "meta" : { "definition" : { "val" : "A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Orthohantavirus puumalaense, which is transmitted_by bank vole, Myodes glareolus [NCBITaxon:447135]. 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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.", "xrefs" : [ "url:http://www.cdc.gov/flu/swineflu/key_facts.htm", "url:https://www.ncbi.nlm.nih.gov/pubmed/9140195" ] }, "subsets" : [ "http://purl.obolibrary.org/obo/doid#DO_infectious_disease_slim", "http://purl.obolibrary.org/obo/doid#zoonotic_infectious_disease" ], "basicPropertyValues" : [ { "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace", "val" : "disease_ontology" } ] } }, { "id" : "http://purl.obolibrary.org/obo/DOID_0050212", "lbl" : "obsolete Campylobacter jejuni gastroenteritis", "type" : "CLASS", "meta" : { "definition" : { "val" : "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.", "xrefs" : [ "url:https://www.ncbi.nlm.nih.gov/pubmed/17846438" ] }, "subsets" : [ "http://purl.obolibrary.org/obo/doid#gram-negative_bacterial_infectious_disease", "http://purl.obolibrary.org/obo/doid#zoonotic_infectious_disease" ], "synonyms" : [ { "pred" : "hasExactSynonym", "val" : "Campylobacter Gastroenteritis" } ], "basicPropertyValues" : [ { "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace", "val" : "disease_ontology" } ], "deprecated" : true } }, { "id" : "http://purl.obolibrary.org/obo/DOID_0050213", "lbl" : "obsolete Vibrio gastroenteritis", "type" : "CLASS", "meta" : { "definition" : { "val" : "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.", "xrefs" : [ "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" ] }, "subsets" : [ "http://purl.obolibrary.org/obo/doid#gram-negative_bacterial_infectious_disease" ], "basicPropertyValues" : [ { "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace", "val" : "disease_ontology" } ], "deprecated" : true } }, { "id" : "http://purl.obolibrary.org/obo/DOID_0050214", "lbl" : "Lambert-Eaton myasthenic syndrome", "type" : "CLASS", "meta" : { "definition" : { "val" : "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.", "xrefs" : [ "url:http://en.wikipedia.org/wiki/Lambert%E2%80%93Eaton_myasthenic_syndrome" ] }, "subsets" : [ "http://purl.obolibrary.org/obo/doid#NCIthesaurus" ], "synonyms" : [ { "pred" : "hasExactSynonym", "val" : "Eaton-Lambert syndrome" }, { "pred" : "hasExactSynonym", "val" : "LEMS" }, { "pred" : "hasExactSynonym", "val" : "Lambert-Eaton syndrome" } ], "xrefs" : [ { "val" : "ICD10CM:G70.80" }, { "val" : "ICD9CM:358.3" }, { "val" : "MESH:D015624" }, { "val" : "NCI:C3155" }, { "val" : "SNOMEDCT_US_2023_03_01:230688006" }, { "val" : "UMLS_CUI:C0022972" } ], "basicPropertyValues" : [ { "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace", "val" : "disease_ontology" } ] } }, { "id" : "http://purl.obolibrary.org/obo/DOID_0050215", "lbl" : "obsolete Staphylococcus gastroenteritis", "type" : "CLASS", "meta" : { "definition" : { "val" : "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.", "xrefs" : [ "url:http://www.merck.com/mmhe/sec09/ch122/ch122c.html", "url:http://www.springerlink.com/content/pg45520138llh128/" ] }, "subsets" : [ "http://purl.obolibrary.org/obo/doid#gram-positive_bacterial_infectious_disease" ], "synonyms" : [ { "pred" : "hasExactSynonym", "val" : "Staphylococcus Aureus Gastroenteritis" } ], "basicPropertyValues" : [ { "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace", "val" : "disease_ontology" } ], "deprecated" : true } }, { "id" : "http://purl.obolibrary.org/obo/DOID_0050216", "lbl" : "obsolete Bacillus cereus gastroenteritis", "type" : "CLASS", "meta" : { "definition" : { "val" : "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.", "xrefs" : [ "url:http://www.jstor.org/stable/pdfplus/30112755.pdf", "url:https://www.ncbi.nlm.nih.gov/pubmed/8501338" ] }, "subsets" : [ "http://purl.obolibrary.org/obo/doid#gram-positive_bacterial_infectious_disease" ], "basicPropertyValues" : [ { "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace", "val" : "disease_ontology" } ], "deprecated" : true } }, { "id" : "http://purl.obolibrary.org/obo/DOID_0050217", "lbl" : "obsolete Sapovirus gastroenteritis", "type" : "CLASS", "meta" : { "definition" : { "val" : "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.", "xrefs" : [ "url:http://www.cdc.gov/ncidod/dvrd/revb/gastro/norovirus-factsheet.htm", "url:http://www0.nih.go.jp/JJID/61/438.pdf" ] }, "basicPropertyValues" : [ { "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace", "val" : "disease_ontology" } ], "deprecated" : true } }, { "id" : "http://purl.obolibrary.org/obo/DOID_0050218", "lbl" : "polycystic echinococcosis", "type" : "CLASS", "meta" : { "definition" : { "val" : "An echinococcosis that is caused by the larvae of Echinococcus vogeli or Echinococcus oligarthrus, which infect the liver.", "xrefs" : [ "url:http://en.wikipedia.org/wiki/Echinococcosis", "url:http://www.dpd.cdc.gov/dpdx/HTML/Echinococcosis.htm" ] }, "subsets" : [ "http://purl.obolibrary.org/obo/doid#DO_infectious_disease_slim" ], "synonyms" : [ { "pred" : "hasExactSynonym", "val" : "human polycystic hydatid disease" }, { "pred" : "hasExactSynonym", "val" : "neotropical echinococcosis" } ], "basicPropertyValues" : [ { "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace", "val" : "disease_ontology" } ] } }, { "id" : "http://purl.obolibrary.org/obo/DOID_0050219", "lbl" : "obsolete Hepeviridae infectious disease", "type" : "CLASS", "meta" : { "definition" : { "val" : "A (+)ssRNA virus infectious disease that results_in infection in animals and humans, located_in liver, has_material_basis_in Hepeviridae viruses.", "xrefs" : [ "url:http://en.wikipedia.org/wiki/Hepeviridae", "url:http://www.expasy.org/viralzone/all_by_species/41.html" ] }, "basicPropertyValues" : [ { "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace", "val" : "disease_ontology" } ], "deprecated" : true } }, { "id" : "http://purl.obolibrary.org/obo/DOID_0050220", "lbl" : "obsolete Coxiella burnetii pneumonia", "type" : "CLASS", "meta" : { "definition" : { "val" : "A Q fever that is a zoonotic infectious disease caused by Coxiella burnetii, a bacterium which affects both humans and animals. 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"http://www.geneontology.org/formats/oboInOwl#hasOBONamespace", "val" : "disease_ontology" } ] } }, { "id" : "http://purl.obolibrary.org/obo/DOID_0110829", "lbl" : "retinitis pigmentosa-deafness syndrome", "type" : "CLASS", "meta" : { "definition" : { "val" : "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.", "xrefs" : [ "url:https://www.ncbi.nlm.nih.gov/pubmed/10090882" ] }, "comments" : [ "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." ], "subsets" : [ "http://purl.obolibrary.org/obo/doid#DO_rare_slim", "http://purl.obolibrary.org/obo/doid#NCIthesaurus" ], "xrefs" : [ { "val" : "GARD:4684" }, { "val" : "MESH:D052245" }, { "val" : "NCI:C126329" }, { "val" : "OMIM:500004" }, { "val" : "ORDO:231183" }, { "val" : "SNOMEDCT_US_2023_03_01:1010610007" }, { "val" : "UMLS_CUI:C1568248" } ], "basicPropertyValues" : [ { "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace", "val" : "disease_ontology" } ] } }, { "id" : "http://purl.obolibrary.org/obo/DOID_0110830", "lbl" : "Usher syndrome type 1C", "type" : "CLASS", "meta" : { "definition" : { "val" : "An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the USH1C gene on chromosome 11p15.", "xrefs" : [ "url:https://www.ncbi.nlm.nih.gov/pubmed/10973247" ] }, "synonyms" : [ { "pred" : "hasExactSynonym", "val" : "USH1C" }, { "pred" : "hasExactSynonym", "val" 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} ] } }, { "id" : "http://purl.obolibrary.org/obo/DOID_0110832", "lbl" : "Usher syndrome type 1F", "type" : "CLASS", "meta" : { "definition" : { "val" : "An Usher syndrome type 1 that has_material_basis_in caused by homozygous or compound heterozygous mutation in the PCDH15 gene on chromosome 10q.", "xrefs" : [ "url:https://www.ncbi.nlm.nih.gov/pubmed/11398101" ] }, "synonyms" : [ { "pred" : "hasExactSynonym", "val" : "USH1F" }, { "pred" : "hasExactSynonym", "val" : "Usher syndrome type IF" } ], "xrefs" : [ { "val" : "ICD10CM:H35.5" }, { "val" : "OMIM:602083" } ], "basicPropertyValues" : [ { "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace", "val" : "disease_ontology" } ] } }, { "id" : "http://purl.obolibrary.org/obo/DOID_0110833", "lbl" : "Usher syndrome type 1E", "type" : "CLASS", "meta" : { "definition" : { "val" : "An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 21q21.", "xrefs" : [ 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chromosome 15q24.", "xrefs" : [ "url:https://www.ncbi.nlm.nih.gov/pubmed/23023331" ] }, "synonyms" : [ { "pred" : "hasExactSynonym", "val" : "USH1J" }, { "pred" : "hasExactSynonym", "val" : "Usher syndrome type IJ" } ], "xrefs" : [ { "val" : "ICD10CM:H35.5" }, { "val" : "OMIM:614869" } ], "basicPropertyValues" : [ { "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace", "val" : "disease_ontology" } ] } }, { "id" : "http://purl.obolibrary.org/obo/DOID_0110837", "lbl" : "Usher syndrome type 1K", "type" : "CLASS", "meta" : { "definition" : { "val" : "An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 10p11.21-q21.1.", "xrefs" : [ "url:https://www.ncbi.nlm.nih.gov/pubmed/22718019" ] }, "synonyms" : [ { "pred" : "hasExactSynonym", "val" : "USH1K" }, { "pred" : "hasExactSynonym", "val" : "Usher syndrome type IK" } ], "xrefs" : [ { "val" : "ICD10CM:H35.5" }, { "val" : "OMIM:614990" } ], "basicPropertyValues" : [ { "pred" : 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or compound heterozygous mutation in the WHRN gene on chromosome 9q32.", "xrefs" : [ "url:https://www.ncbi.nlm.nih.gov/pubmed/17171570" ] }, "synonyms" : [ { "pred" : "hasExactSynonym", "val" : "USH2D" }, { "pred" : "hasExactSynonym", "val" : "Usher syndrome type IID" } ], "xrefs" : [ { "val" : "ICD10CM:H35.5" }, { "val" : "OMIM:611383" } ], "basicPropertyValues" : [ { "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace", "val" : "disease_ontology" } ] } }, { "id" : "http://purl.obolibrary.org/obo/DOID_0110841", "lbl" : "Usher syndrome type 3A", "type" : "CLASS", "meta" : { "definition" : { "val" : "An Usher syndrome type 3 that has_material_basis_in homozygous or compound heterozygous mutation in the CLRN1 gene on chromosome 3q25.", "xrefs" : [ "url:https://www.ncbi.nlm.nih.gov/pubmed/11524702" ] }, "synonyms" : [ { "pred" : "hasExactSynonym", "val" : "USH3A" }, { "pred" : "hasExactSynonym", "val" : "Usher syndrome type IIIA" } ], "xrefs" : [ { "val" : 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"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.", "xrefs" : [ "url:https://www.ncbi.nlm.nih.gov/pubmed/2168777", "url:https://www.ncbi.nlm.nih.gov/pubmed/2234061" ] }, "synonyms" : [ { "pred" : "hasExactSynonym", "val" : "XP group A" }, { "pred" : "hasExactSynonym", "val" : "XP1" }, { "pred" : "hasExactSynonym", "val" : "XPA" }, { "pred" : "hasExactSynonym", "val" : "xeroderma pigmentosum 1" }, { "pred" : "hasExactSynonym", "val" : "xeroderma pigmentosum complementation group A" } ], "xrefs" : [ { "val" : "ICD10CM:Q82.1" }, { "val" : "OMIM:278700" } ], "basicPropertyValues" : [ { "pred" : "http://www.geneontology.org/formats/oboInOwl#hasOBONamespace", "val" : "disease_ontology" } ] } }, { "id" : "http://purl.obolibrary.org/obo/DOID_0110844", "lbl" : "xeroderma pigmentosum group C", 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: "Abnormality of the abdominal organs", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0002024", "lbl" : "Malabsorption", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0002060", "lbl" : "Abnormal cerebral morphology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0002074", "lbl" : "Increased neuronal autofluorescent lipopigment", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0002086", "lbl" : "Abnormality of the respiratory system", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0002088", "lbl" : "Abnormal lung morphology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0002103", "lbl" : "Abnormal pleura morphology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0002113", "lbl" : "Pulmonary infiltrates", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0002143", "lbl" : "Abnormal spinal cord morphology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0002157", "lbl" : "Azotemia", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0002167", "lbl" : "Abnormality of speech or vocalization", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0002194", "lbl" : "Delayed gross motor development", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0002209", "lbl" : "Sparse scalp hair", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0002242", "lbl" : "Abnormal intestine morphology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0002334", "lbl" : "Abnormal cerebellar vermis morphology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0002344", "lbl" : "Progressive neurologic deterioration", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0002355", "lbl" : "Difficulty walking", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0002463", "lbl" : "Language impairment", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0002493", "lbl" : "Upper motor neuron dysfunction", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0002500", "lbl" : "Abnormal cerebral white matter morphology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0002503", "lbl" : "Spinocerebellar tract degeneration", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0002579", "lbl" : "Gastrointestinal dysmotility", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0002597", "lbl" : "Abnormality of the vasculature", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0002617", "lbl" : "Vascular dilatation", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0002652", "lbl" : "Skeletal dysplasia", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0002683", "lbl" : "Abnormal calvaria morphology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0002715", "lbl" : "Abnormality of the immune system", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0002750", "lbl" : "Delayed skeletal maturation", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0002793", "lbl" : "Abnormal pattern of respiration", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0002795", "lbl" : "Abnormal respiratory system physiology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0002797", "lbl" : "Osteolysis", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0002812", "lbl" : "Coxa vara", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0002813", "lbl" : "Abnormal limb bone morphology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0002814", "lbl" : "Abnormality of the lower limb", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0002815", "lbl" : "Abnormality of the knee", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0002817", "lbl" : "Abnormality of the upper limb", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0002823", "lbl" : "Abnormal femur morphology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0002970", "lbl" : "Genu varum", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0002977", "lbl" : "Aplasia/Hypoplasia involving the central nervous system", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0002979", "lbl" : "Bowing of the legs", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0002981", "lbl" : "Abnormality of the calf", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0002983", "lbl" : "Micromelia", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0003011", "lbl" : "Abnormality of the musculature", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0003027", "lbl" : "Mesomelia", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0003110", "lbl" : "Abnormality of urine homeostasis", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0003112", "lbl" : "Abnormal circulating amino acid concentration", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0003125", "lbl" : "Reduced factor VIII activity", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0003133", "lbl" : "Abnormality of the spinocerebellar tracts", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0003187", "lbl" : "Breast hypoplasia", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0003202", "lbl" : "Skeletal muscle atrophy", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0003231", "lbl" : "Hypertyrosinemia", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0003241", "lbl" : "External genital hypoplasia", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0003256", "lbl" : "Abnormality of the coagulation cascade", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0003307", "lbl" : "Hyperlordosis", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0003312", "lbl" : "Abnormal form of the vertebral bodies", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0003330", "lbl" : "Abnormal bone structure", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0003355", "lbl" : "Aminoaciduria", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0003366", "lbl" : "Abnormal femoral neck/head morphology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0003367", "lbl" : "Abnormal femoral neck morphology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0003468", "lbl" : "Abnormal vertebral morphology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0003498", "lbl" : "Disproportionate short stature", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0003508", "lbl" : "Proportionate short stature", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0003510", "lbl" : "Severe short stature", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0003521", "lbl" : "Disproportionate short-trunk short stature", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0003549", "lbl" : "Abnormality of connective tissue", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0003577", "lbl" : "Congenital onset", "type" : "CLASS", "meta" : { "definition" : { "val" : "A phenotypic abnormality that is present at birth." } } }, { "id" : "http://purl.obolibrary.org/obo/HP_0003581", "lbl" : "Adult onset", "type" : "CLASS", "meta" : { "definition" : { "val" : "Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later." } } }, { "id" : "http://purl.obolibrary.org/obo/HP_0003584", "lbl" : "Late onset", "type" : "CLASS", "meta" : { "definition" : { "val" : "A type of adult onset with onset of symptoms after the age of 60 years." } } }, { "id" : "http://purl.obolibrary.org/obo/HP_0003593", "lbl" : "Infantile onset", "type" : "CLASS", "meta" : { "definition" : { "val" : "Onset of signs or symptoms of disease between 28 days to one year of life." } } }, { "id" : "http://purl.obolibrary.org/obo/HP_0003596", "lbl" : "Middle age onset", "type" : "CLASS", "meta" : { "definition" : { "val" : "A type of adult onset with onset of symptoms at the age of 40 to 60 years." } } }, { "id" : "http://purl.obolibrary.org/obo/HP_0003621", "lbl" : "Juvenile onset", "type" : "CLASS", "meta" : { "definition" : { "val" : "Onset of signs or symptoms of disease between the age of 5 and 15 years." } } }, { "id" : "http://purl.obolibrary.org/obo/HP_0003623", "lbl" : "Neonatal onset", "type" : "CLASS", "meta" : { "definition" : { "val" : "Onset of signs or symptoms of disease within the first 28 days of life." } } }, { "id" : "http://purl.obolibrary.org/obo/HP_0003674", "type" : "CLASS", "meta" : { "definition" : { "val" : "The age group in which disease manifestations appear." } } }, { "id" : "http://purl.obolibrary.org/obo/HP_0003808", "lbl" : "Abnormal muscle tone", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0004297", "lbl" : "Abnormality of the biliary system", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0004298", "lbl" : "Abnormality of the abdominal wall", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0004302", "lbl" : "Functional motor deficit", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0004305", "lbl" : "Involuntary movements", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0004306", "lbl" : "Abnormal endocardium morphology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0004313", "lbl" : "Decreased circulating antibody level", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0004322", "lbl" : "Short stature", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0004323", "lbl" : "Abnormality of body weight", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0004324", "lbl" : "Increased body weight", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0004325", "lbl" : "Decreased body weight", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0004326", "lbl" : "Cachexia", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0004328", "lbl" : "Abnormal anterior eye segment morphology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0004329", "lbl" : "Abnormal posterior eye segment morphology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0004334", "lbl" : "Dermal atrophy", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0004338", "lbl" : "Abnormal circulating aromatic amino acid concentration", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0004340", "lbl" : "Abnormality of vitamin B metabolism", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0004341", "lbl" : "Abnormality of vitamin B12 metabolism", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0004348", "lbl" : "Abnormality of bone mineral density", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0004354", "lbl" : "Abnormal circulating carboxylic acid concentration", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0004360", "lbl" : "Abnormality of acid-base homeostasis", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0004364", "lbl" : "Abnormal circulating nitrogen compound concentration", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0004372", "lbl" : "Reduced consciousness", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0004566", "lbl" : "Pear-shaped vertebrae", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0005132", "lbl" : "Pericardial constriction", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0005257", "lbl" : "Thoracic hypoplasia", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0005339", "lbl" : "Abnormality of complement system", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0005368", "lbl" : "Abnormality of humoral immunity", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0005372", "lbl" : "Abnormality of B cell physiology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0005599", "lbl" : "Hypopigmentation of hair", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0005656", "lbl" : "Positional foot deformity", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0005832", "lbl" : "Dysharmonic delayed bone age", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0006483", "lbl" : "Abnormal number of teeth", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0006487", "lbl" : "Bowing of the long bones", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0006530", "lbl" : "Abnormal pulmonary interstitial morphology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0006561", "lbl" : "Lipid accumulation in hepatocytes", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0006685", "lbl" : "Endocardial fibrosis", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0006817", "lbl" : "Aplasia/Hypoplasia of the cerebellar vermis", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0007360", "lbl" : "Aplasia/Hypoplasia of the cerebellum", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0007364", "lbl" : "Aplasia/Hypoplasia of the cerebrum", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0007367", "lbl" : "Atrophy/Degeneration affecting the central nervous system", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0007369", "lbl" : "Atrophy/Degeneration affecting the cerebrum", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0007370", "lbl" : "Aplasia/Hypoplasia of the corpus callosum", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0007431", "lbl" : "Congenital ichthyosiform erythroderma", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0007495", "lbl" : "Prematurely aged appearance", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0007513", "lbl" : "Generalized hypopigmentation", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0007556", "lbl" : "Plantar hyperkeratosis", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0007700", "lbl" : "Ocular anterior segment dysgenesis", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0007703", "lbl" : "Abnormality of retinal pigmentation", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0007858", "lbl" : "Chorioretinal lacunae", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0008055", "lbl" : "Aplasia/Hypoplasia affecting the uvea", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0008057", "lbl" : "Aplasia/Hypoplasia affecting the fundus", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0008058", "lbl" : "Aplasia/Hypoplasia of the optic nerve", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0008065", "lbl" : "Aplasia/Hypoplasia of the skin", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0008067", "lbl" : "Abnormally lax or hyperextensible skin", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0008070", "lbl" : "Sparse hair", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0008609", "lbl" : "Abnormal middle ear morphology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0008669", "lbl" : "Abnormal spermatogenesis", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0008734", "lbl" : "Decreased testicular size", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0008873", "lbl" : "Disproportionate short-limb short stature", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0008905", "lbl" : "Rhizomelia", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0009115", "lbl" : "Aplasia/hypoplasia involving the skeleton", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0009116", "lbl" : "Aplasia/Hypoplasia involving bones of the skull", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0009118", "lbl" : "Aplasia/Hypoplasia of the mandible", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0009121", "lbl" : "Abnormal axial skeleton morphology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0009122", "lbl" : "Aplasia/hypoplasia affecting bones of the axial skeleton", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0009804", "lbl" : "Tooth agenesis", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0009815", "lbl" : "Aplasia/hypoplasia of the extremities", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0009826", "lbl" : "Limb undergrowth", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0009887", "lbl" : "Abnormality of hair pigmentation", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0010311", "lbl" : "Aplasia/Hypoplasia of the breasts", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0010461", "lbl" : "Abnormality of the male genitalia", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0010468", "lbl" : "Aplasia/Hypoplasia of the testes", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0010647", "lbl" : "Abnormal elasticity of skin", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0010668", "lbl" : "Abnormal zygomatic bone morphology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0010674", "lbl" : "Abnormal curvature of the vertebral column", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0010701", "lbl" : "Abnormal immunoglobulin level", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0010765", "lbl" : "Palmar hyperkeratosis", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0010866", "lbl" : "Abdominal wall defect", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0010884", "lbl" : "Acromelia", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0010917", "lbl" : "Abnormal circulating tyrosine concentration", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0010932", "lbl" : "Abnormal circulating nucleobase concentration", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0010935", "lbl" : "Abnormality of the upper urinary tract", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0010974", "lbl" : "Abnormal myeloid leukocyte morphology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0010978", "lbl" : "Abnormality of immune system physiology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0010987", "lbl" : "Abnormal cellular immune system morphology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0010989", "lbl" : "Abnormality of the intrinsic pathway", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0010993", "lbl" : "Abnormal cerebral subcortex morphology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0010995", "lbl" : "Abnormal circulating dicarboxylic acid concentration", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0011001", "lbl" : "Increased bone mineral density", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0011014", "lbl" : "Abnormal glucose homeostasis", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0011015", "lbl" : "Abnormal blood glucose concentration", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0011017", "lbl" : "Abnormal cellular physiology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0011024", "lbl" : "Abnormality of the gastrointestinal tract", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0011025", "lbl" : "Abnormal cardiovascular system physiology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0011028", "lbl" : "Abnormality of blood circulation", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0011032", "lbl" : "Abnormality of fluid regulation", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0011035", "lbl" : "Abnormal renal cortex morphology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0011121", "lbl" : "Abnormal skin morphology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0011122", "lbl" : "Abnormality of skin physiology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0011138", "lbl" : "Abnormal skin adnexa morphology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0011218", "lbl" : "Abnormal shape of the frontal region", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0011220", "lbl" : "Prominent forehead", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0011276", "lbl" : "Vascular skin abnormality", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0011277", "lbl" : "Abnormality of the urinary system physiology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0011282", "lbl" : "Abnormal hindbrain morphology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0011283", "lbl" : "Abnormal metencephalon morphology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0011297", "lbl" : "Abnormal digit morphology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0011314", "lbl" : "Abnormal long bone morphology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0011329", "lbl" : "Abnormality of cranial sutures", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0011339", "lbl" : "Abnormality of upper lip vermillion", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0011354", "lbl" : "Generalized abnormality of skin", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0011356", "lbl" : "Regional abnormality of skin", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0011362", "lbl" : "Abnormal hair quantity", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0011368", "lbl" : "Epidermal thickening", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0011389", "lbl" : "Functional abnormality of the inner ear", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0011442", "lbl" : "Abnormal central motor function", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0011443", "lbl" : "Abnormality of 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"definition" : { "val" : "Onset of disease at the age of between 16 and 40 years." } } }, { "id" : "http://purl.obolibrary.org/obo/HP_0011463", "lbl" : "Childhood onset", "type" : "CLASS", "meta" : { "definition" : { "val" : "Onset of disease at the age of between 1 and 5 years." } } }, { "id" : "http://purl.obolibrary.org/obo/HP_0011486", "lbl" : "Abnormality of corneal thickness", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0011729", "lbl" : "Abnormality of joint mobility", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0011767", "lbl" : "Abnormality of the parathyroid physiology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0011772", "lbl" : "Abnormal thyroid morphology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0011800", "lbl" : "Midface retrusion", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0011804", "lbl" : "Abnormal muscle physiology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0011805", "lbl" : "Abnormal skeletal muscle morphology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0011813", "lbl" : "Increased cerebral lipofuscin", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0011821", "lbl" : "Abnormal facial skeleton morphology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0011842", "lbl" : "Abnormal skeletal morphology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0011843", "lbl" : "Abnormal musculoskeletal physiology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0011844", "lbl" : "Abnormal appendicular skeleton morphology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0011849", "lbl" : "Abnormal bone ossification", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0011873", "lbl" : "Abnormal platelet count", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0011875", "lbl" : "Abnormal platelet morphology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0011893", "lbl" : "Abnormal leukocyte count", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0011961", "lbl" : "Non-obstructive azoospermia", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0011968", "lbl" : "Feeding difficulties", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0012210", "lbl" : "Abnormal renal morphology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0012211", "lbl" : "Abnormal renal physiology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0012243", "lbl" : "Abnormal reproductive system morphology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0012252", "lbl" : "Abnormal respiratory system morphology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0012337", "lbl" : "Abnormal homeostasis", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0012372", "lbl" : "Abnormal eye morphology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0012373", "lbl" : "Abnormal eye physiology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0012443", "lbl" : "Abnormal brain morphology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0012444", "lbl" : "Brain atrophy", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0012547", "lbl" : "Abnormal involuntary eye movements", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0012575", "lbl" : "Abnormal nephron morphology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0012638", "lbl" : "Abnormal nervous system physiology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0012639", "lbl" : "Abnormal nervous system morphology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0012640", "lbl" : "Abnormality of intracranial pressure", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0012641", "lbl" : "Decreased intracranial pressure", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0012647", "lbl" : "Abnormal inflammatory response", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0012649", "lbl" : "Increased inflammatory response", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0012700", "lbl" : "Abnormal large intestine physiology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0012718", "lbl" : "Abnormal gastrointestinal tract morphology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0012719", "lbl" : "Functional abnormality of the gastrointestinal tract", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0012758", "lbl" : "Neurodevelopmental delay", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0012759", "lbl" : "Neurodevelopmental abnormality", "type" : "CLASS" }, { "id" : 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: "http://purl.obolibrary.org/obo/HP_0031093", "lbl" : "Abnormal breast morphology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0031137", "lbl" : "Storage in hepatocytes", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0031158", "lbl" : "Widened atrophic scar", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0031263", "lbl" : "Abnormal renal corpuscle morphology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0031409", "lbl" : "Abnormal lymphocyte physiology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0031481", "lbl" : "Abnormal mitral valve physiology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0031650", "lbl" : "Abnormal atrioventricular valve physiology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0031652", "lbl" : "Abnormal aortic valve physiology", "type" : "CLASS" }, { "id" : "http://purl.obolibrary.org/obo/HP_0031653", "lbl" : "Abnormal heart 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