The Human Phenotype Ontology Consortium HP subset applied to OntONeo ontology. PERSON: Fernanda Farinelli This owl file represents the necessary entities of HP that are reused in OntONeo Ontology. This file was created using Ontofox and some intermediary entities were not imported. Human Phenotype Ontology HPO:skoehler semi_formal_definition definition imported from has_alternative_id database_cross_reference has_exact_synonym has_obo_namespace has_related_synonym in_subset has phenotype affecting Protrusion of the contents of the abdominal cavity through the inguinal canal. MEDDRA:10022016 MeSH:D006552 SNOMEDCT:396232000 UMLS:C0019294 human_phenotype HP:0000023 Inguinal hernia appears as a bulge in the groin. Inguinal hernia An abnormality of the `genital system` (FMA:7160). An abnormality of the genital system. UMLS:C0744356 Genital abnormalities Genital abnormality Genital anomalies Genital defects human_phenotype Abnormality of the reproductive system HP:0000078 Abnormality of the genital system An `abnormal` (PATO:0000460) `functionality` (PATO:0001509) of the `genital system` (FMA:7160). An abnormal functionality of the genital system. Abnormality of genital physiology Genital functional abnormality human_phenotype HP:0000080 Abnormality of reproductive system physiology A phenotypic abnormality. Organ abnormality human_phenotype HP:0000118 PERSON: Fernanda Farinelli OntONeo development prioritizes the reuse of classes and entities from FMA ontology to deal with human anatomy approaches. Originally this class has reference to UBERON:0000468. UBERON ontology has cross-reference annotation (database_cross_reference) of UBERON: 0000468 to FMA_256135. Due this cross-reference annotation we opted to replace the UBERON:0000468 by FMA_256135. This is the root of the phenotypic abnormality subontology of the HPO. Phenotypic abnormality Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days. HP:0100609 UMLS:C0025323 Abnormally heaving bleeding during menstruation Hypermenorrhea human_phenotype HP:0000132 Menorrhagia The presence of `prolapse` (MPATH:626) of the `uterus` (FMA:17558). The presence of prolapse of the uterus. HP:0100824 MeSH:D014596 UMLS:C0042140 Sagging uterus human_phenotype HP:0000139 The uterus (womb) is normally held in place by a muscles, tissue and ligaments. If these tissues can no longer support the uterus it can slip down from its normal position. Uterine prolapse An abnormality of the `ovulation cycle` (GO:0042698). An abnormality of the ovulation cycle. human_phenotype Menstrual abnormalities HP:0000140 Abnormality of the menstrual cycle Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months. MeSH:D000568 UMLS:C2219717 Abnormal absence of menstruation human_phenotype HP:0000141 Amenorrhea An abnormality of the `nervous system` (FMA:7157). An abnormality of the nervous system. HP:0001333 HP:0006987 Neurologic abnormalities Neurological abnormality human_phenotype HP:0000707 The nervous system comprises the neuraxis (brain, spinal cord, and ventricles), the autonomic nervous system, the enteric nervous system, and the peripheral nervous system. Abnormality of the nervous system UMLS:C0232939 human_phenotype HP:0000786 Primary amenorrhea UMLS:C0232940 human_phenotype HP:0000869 Secondary amenorrhea Infrequent menses (less than 6 per year or more than 35 days between cycles). MeSH:D009839 UMLS:C2057730 human_phenotype HP:0000876 Oligomenorrhea Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord. MeSH:D058529 UMLS:C1384670 human_phenotype HP:0001195 The umbilical cord normally has two arteries and one vein. Single umbilical artery Decreased length of the `umbilical cord` (FMA:85541). Decreased length of the umbilical cord. UMLS:C0266786 human_phenotype HP:0001196 Short umbilical cord An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities. human_phenotype HP:0001197 Because of the close link between prenatal developmental abnormalities and abnormalities of the birth process, a single term is chosen to subsume both classes of abnormality. Abnormality of prenatal development or birth An abnormality of the `cerebellum` (FMA:67944). An abnormality of the cerebellum. UMLS:C0007760 Cerebellar abnormalities Cerebellar abnormality Cerebellar anomaly Cerebellar signs human_phenotype HP:0001317 Abnormality of the cerebellum Body weight that is grossly above the acceptable or desirable weight, usually due to accumulation of excess fats in the body. The standards may vary with age, sex, genetic or cultural background. In the body mass index (BMI), a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese. MeSH:D009765 UMLS:C1963185 human_phenotype HP:0001513 PERSON: Fernanda Farinelli OntONeo development prioritizes the reuse of classes and entities from FMA ontology to deal with human anatomy approaches. Originally this class has reference to UBERON:0000468. UBERON ontology has cross-reference annotation (database_cross_reference) of UBERON: 0000468 to FMA_256135. Due this cross-reference annotation we opted to replace the UBERON:0000468 by FMA_256135. Obesity Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect. MeSH:D006554 SNOMEDCT:396347007 UMLS:C0019322 Umbilical hernias human_phenotype HP:0001537 Umbilical hernia An abnormality of fetal movement. HP:0007629 UMLS:C1849510 Abnormal intrauterine movements human_phenotype HP:0001557 Fetal movements generally become apparent during the second trimester of pregnancy around the 20th week but occasionally up to the 25th week. The initiation of perceptible fetal movements is referred to as 'quickening'. Prenatal movement abnormality An abnormal reduction in quantity or strength of fetal movements. HP:0001559 HP:0006840 HP:0007630 HP:0007631 UMLS:C0235659 Decreased fetal activity Decreased fetal movements Decreased movement in utero Fetal hypokinesia Reduced fetal movement Reduced fetal movements human_phenotype HP:0001558 Decreased fetal movement Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus. Abnormal amniotic fluid human_phenotype HP:0001560 Abnormality of the amniotic fluid The presence of excess amniotic fluid in the uterus during pregnancy. HP:0005098 MeSH:D006831 UMLS:C0020224 Hydramnios human_phenotype HP:0001561 Polyhydramnios is diagnosed if the deepest vertical pool of amniotic fluid is more than 8 cm or amniotic fluid index is more than 95th percentile for the corresponding gestational age. Polyhydramnios Diminished amniotic fluid volume in pregnancy. HP:0004638 MeSH:D016104 UMLS:C0079924 Maternal oligohydramnios human_phenotype HP:0001562 Oligohydramnios is the opposite of polyhydramnios. In normal pregnancy the amniotic fluid volume increases by about 10 ml/day until the 34th, after which it slowly diminishes. A normal amniotic fluid volume at term is about 500-2,000 ml. Oligohydramnios is defined as an AFI (amniotic fluid index) less than 5 cm or smallest vertical pocket of fluid less than 2 cm. Oligohydramnios Abnormally increased production of urine by the fetus resulting in `polyhydramnios` (HP:0001561). Abnormally increased production of urine by the fetus resulting in polyhydramnios. UMLS:C1865279 human_phenotype HP:0001563 The fetal urine production rate can be measured by ultrasonography. Fetal polyuria The birth of a baby of less than 37 weeks of gestational age. MeSH:D047928 UMLS:C2028283 Premature delivery Premature delivery of affected infants Preterm delivery Shortened gestation time human_phenotype HP:0001622 Premature birth Premature rupture of membranes (PROM) is a condition which occurs in pregnancy when the amniotic sac ruptures more than an hour before the onset of labor. HP:0002163 human_phenotype HP:0001788 Premature rupture of membranes Accumulation of fluid in the peritoneal cavity during the fetal period. UMLS:C1285291 human_phenotype HP:0001791 Fetal ascites An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects. HP:0004830 HP:0004834 HP:0004849 HP:0004862 HP:0004865 HP:0008183 UMLS:C1458140 Bleeding diathesis Bleeding tendency Hemorrhagic diathesis human_phenotype HP:0001892 This term is kept for historical reasons. If possible, a more exact description of the phenotype (i.e., whether there is a vascular, platelet and coagulation defect) should be attempted. Abnormal bleeding Decreases fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia). human_phenotype Early severe fetal akinesia sequence Fetal akinesia HP:0001989 Fetal akinesia sequence The presence of a `hernia` (MPATH:75) in which the upper part of the stomach, i.e., mainly the `gastric cardia` (FMA:14561) protrudes through the diaphragmatic `esophageal hiatus` (FMA:58289). The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus. peter 2008-02-20T11:28:00Z MEDDRA:10020028 MeSH:D006551 SNOMEDCT:84089009 UMLS:C0019291 Hiatal hernia Stomach hernia human_phenotype HP:0002036 A tendency for the upper part of the stomach to herniate into the thorax because of a weakness of the esophageal hiatus, which is the hole in the diaphragm through which the esophagus passes. Hiatus hernia can be asymptomatic or can lead to acid reflux symptoms (heartburn). Hiatus hernia An abnormality of the `lung` (FMA:7195). Any structural anomaly of the lung. Any structural anomaly of the lung. Abnormality of the lungs human_phenotype Lung disease HP:0002088 Abnormality of lung morphology An abnormality of the `lung` (FMA:7195). HPO:probinson Any structural anomaly of the lung. HPO:probinson Arnold-Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow. MeSH:D001139 UMLS:C0555206 Arnola-Chiari malformation Chiari malformation human_phenotype HP:0002308 Arnold-Chiari malformation Ventral hernia refers to a condition in which abdominal contents protrude through a weakened portion of the abdominal wall. MeSH:D006555 UMLS:C0019326 human_phenotype HP:0002933 PERSON: Fernanda Farinelli OntONeo development prioritizes the reuse of classes and entities from FMA ontology to deal with human anatomy approaches. Originally this class has reference to UBERON:0000468. UBERON ontology has cross-reference annotation (database_cross_reference) of UBERON: 0000468 to FMA_256135. Due this cross-reference annotation we opted to replace the UBERON:0000468 by FMA_256135. Ventral hernia peter 2008-02-27T03:21:00Z UMLS:C0043094 human_phenotype Weight gain HP:0004324 PERSON: Fernanda Farinelli OntONeo development prioritizes the reuse of classes and entities from FMA ontology to deal with human anatomy approaches. Originally this class has reference to UBERON:0000468. UBERON ontology has cross-reference annotation (database_cross_reference) of UBERON: 0000468 to FMA_256135. Due this cross-reference annotation we opted to replace the UBERON:0000468 by FMA_256135. Increased body weight peter 2008-02-27T03:22:00Z HP:0001823 HP:0001826 UMLS:C0043096 Decreased weight Low body weight Low weight Weight less than 3rd percentile human_phenotype HP:0004325 Decreased body weight An abdominal hernia that occurs at a site of weakness in the abdominal wall resulting from an incompletely-healed surgical wound. Recurrent abdominal hernia human_phenotype HP:0004872 Incisional hernia human_phenotype HP:0005100 Premature birth following premature rupture of fetal membranes human_phenotype HP:0005267 Premature delivery because of cervical insufficiency or membrane fragility human_phenotype HP:0005948 Cystic lung disease Reduced size of the `placenta` (FMA:63934). Reduced size of the placenta. human_phenotype HP:0006266 Small placenta Increased size of the `placenta` (FMA:63934). Increased size of the placenta. UMLS:C1855338 Placental enlargement human_phenotype HP:0006267 Large placenta An abnormal increase in quantity or strength of fetal movements. peter 2009-09-20T10:44:15Z Fetal hyperkinesia human_phenotype HP:0010519 Increased fetal movement An abnormality of the `umbilical cord` (FMA:85541), which is the cord connecting the developing embryo or fetus to the placenta. An abnormality of the umbilical cord, which is the cord connecting the developing embryo or fetus to the placenta. peter 2010-09-13T08:24:04Z human_phenotype HP:0010881 Abnormality of the umbilical cord An abnormality of the fetal circulation system or fetal echocardiogram. peter 2011-01-16T03:53:44Z Abnormality of the fetal circulation system human_phenotype HP:0010948 Abnormality of the fetal cardiovascular system An first-trimester prenatal ultrasound finding of abnormal blood flow in the umbilical vein. peter 2011-01-16T04:15:43Z human_phenotype HP:0010949 Umbilical vein blood flow (UVBF) is closely related to the mass of placental cotyledons and is considered an expression of the amount of oxygen and nutrients transferred from the mother to the fetus. Abnormality of umbilical vein blood flow Congenital cystic adenomatoid malformation (CCAM) can be diagnosed prenatally if ultrasound shows a cystic or solid lung tumor. A CCAM does not have systemic arterial blood supply (in contrast to bronchopulmonary sequenstration). It is a cystic area within the lung that originates from abnormal embryogenesis. Congenital cystic adenomatoid malformation (CCAM) can be diagnosed prenatally if ultrasound shows a cystic or solid lung tumor. A CCAM does not have systemic arterial blood supply (in contrast to bronchopulmonary sequenstration). It is a cystic area within the lung that originates from abnormal embryogenesis. peter 2011-01-18T11:56:02Z HP:0006540 HP:0006545 MeSH:D015615 Congenital cystic disease of the lung Cystic adenomatoid lung disease human_phenotype CCAM HP:0010959 Congenital cystic adenomatoid malformation (CCAM) results in a multicystic mass that replaces the normal lung structure. CCAM is usually unilateral and confined to a single lobe of the lung. Congenital cystic adenomatoid malformation of the lung Congenital cystic adenomatoid malformation (CCAM) can be diagnosed prenatally if ultrasound shows a cystic or solid lung tumor. A CCAM does not have systemic arterial blood supply (in contrast to bronchopulmonary sequenstration). It is a cystic area within the lung that originates from abnormal embryogenesis. HPO:probinson MeSH:D015615 Cystic Adenomatoid Malformation of Lung, Congenital peter 2012-03-15T11:05:13Z human_phenotype HP:0011403 Abnormal umbilical cord blood vessels An abnormality of the placenta in which there are numerous cystic spaces within the placenta as well as placental enlargement. peter 2012-03-15T10:07:47Z Hydrops of the placenta human_phenotype HP:0011414 Hydropic placenta peter 2012-03-15T10:10:35Z human_phenotype HP:0011415 Calcified placenta peter 2012-03-15T10:11:39Z Placental thromboembolism human_phenotype HP:0011416 Placental infarction Increased length of the `umbilical cord` (FMA:85541). Increased length of the umbilical cord. peter 2012-03-15T10:12:55Z human_phenotype HP:0011417 Long umbilical cord peter 2012-03-15T10:15:01Z Vasa previa human_phenotype HP:0011418 Abnormal insertion of umbilical cord Separation of the placenta from the uterus wall before delivery. peter 2012-03-15T11:08:18Z MeSH:D000037 Abruptio placentae human_phenotype HP:0011419 Placental abruption A structural or developmental anomaly of any of the tissues involved in the genital system. peter 2013-04-02T07:02:20Z Abnormal reproductive system morphology human_phenotype HP:0012243 Abnormal genital system morphology Amniotic fluid containing the earliest stools of a mammalian infant. peter 2013-11-10T06:01:40Z Meconium staining of amniotic fluid Meconium-stained amniotic fluid human_phenotype HP:0012420 Meconium may be expelled into the amniotic fluid before birth in response to fetal distress. If meconium is aspirated by the fetus, it may lead to meconium aspiration syndrome. Meconium stained amniotic fluid A structural abnormality of the `brain` (FMA:50801), which has as its parts the forebrain, midbrain, and hindbrain. A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain. peter 2013-11-23T02:38:00Z Abnormal shape of brain Abnormality of the brain human_phenotype HP:0012443 Abnormality of brain morphology First period after the age of 15 years. peter 2014-01-08T08:20:18Z Delayed start of first period human_phenotype HP:0012569 Delayed menarche A structural anomaly of the `nervous system` (FMA:7157). A structural anomaly of the nervous system. peter 2014-01-19T08:03:08Z Abnormal shape of nervous system human_phenotype HP:0012639 Abnormality of nervous system morphology Excessive fat around the stomach and abdomen. Excessive fat around the stomach and abdomen. peter 2014-03-23T05:00:05Z Central obesity human_phenotype HP:0012743 PERSON: Fernanda Farinelli OntONeo development prioritizes the reuse of classes and entities from FMA ontology to deal with human anatomy approaches. Originally this class was defined as by HP ontology as "inheres in UBERON: 0000916". UBERON ontology has cross-reference annotation (database_cross_reference) of UBERON: 0000916 to FMA:9577. Due this cross-reference annotation we opted to replace the UBERON: 0000916 by FMA:9577. Abdominal obesity Excessive fat around the stomach and abdomen. HPO:probinson Central obesity HPO:skoehler A deviation from normal size of the placenta. peter 2014-04-07T12:11:29Z human_phenotype HP:0012767 Abnormal placental size An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart. MeSH:D006337 Cardiac murmur Cardiac murmurs Heart murmurs Heart murmurs can be appreciated by auscultation of the heart by stethoscope. Murmurs can be further categorized by intensity (6 grades), duration, timing (systolic, diastolic, or continuous), location, transmission, and quality (musical, vibratory, blowing, etc). Heart murmur Any cystic lesion associated with the umbilical cord. Umbilical cord cysts can be single or multiple. Most usually, a solitary umbilical cyst is observed. They can be classified as (i) true cysts if they have an epithelial lining (allentoic cyst or omphalomesenteric duct cyst) or false cysts if they do not have an epithelial lining (umbilical cord pseudocyst). Umbilical cord cyst An entwining of a segment of umbilical cord, usually without obstructing fetal circulation and commonly result from fetal slippage through a loop of the cord. UToronto:chum When the true knot remains tight, it may impede the circulation of the fetus and may result to fetal death in utero especially in labor. Umbilical cord knot Focal dilation of the umbilical vein. UToronto:chum Umbilical vein varix Bleeding from the vessels of the cord with extravasation of blood into the Wharton jelly surrounding the umbilical cord vessels. UToronto:chum Umbilical cord haematoma Umbilical cord hematoma Insertion of the umbilical cord within 2 cm from the placental edge. UToronto:chum Marginal cord insertion Marginal cord insertion has an ncidence of about 7 percent of births. It is associated with intrauterine growth retardation, preterm labor and development of velamentous cord insertion. Marginal umbilical cord insertion Insertion of the umbilical cord into the chorio-amniotic membranes of the placenta. UToronto:chum Velamentous cord insertion and an incidence of 1.1 percent of singleton births, and 8.7 to 16 percent of twin births. Velamentous cord insertion Branching of the umbilical cord before its insertion into the placenta. UToronto:chum Furcate cord insertion A large maternal clot that separates the chorionic place from the villous chorion. Breus' mole Subchorionic thrombohematoma Cyst on the surface of the placenta consisting of amnion and chorion. Subchorionic septal cyst Loss of one twin occurring after midgestation (17 weeks gestation). Single-twin demise Loss of one twin in the first trimester does not appear to impair the development of the surviving twin. However, fetal death occurring after midgestation (17 weeks' gestation) may increase the risk of IUGR, preterm labor, preeclampsia and perinatal mortality. Intrauterine fetal demise of one twin after midgestation A hernia which occurs just below the inguinal ligament, where abdominal contents pass through a naturally occurring weakness called the femoral canal. doelkens 2010-12-20T06:16:40Z MEDDRA:10016434 MeSH:D006550 SNOMEDCT:50063009 UMLS:C0019288 Crural hernia human_phenotype HP:0100541 Femoral hernias are a relatively uncommon type, accounting for only 3% of all hernias. Femoral hernia appears as a bulge in the upper thigh. Femoral hernia Bleeding at irregular intervals. doelkens 2010-12-27T06:14:01Z MeSH:D008796 UMLS:C0025874 Abnormal uterus bleeding human_phenotype HP:0100608 Metrorrhagia The presence of a `hernia` (MPATH:75) of the `vagina` (FMA:19949). The presence of a hernia of the vagina. doelkens 2010-12-30T01:35:05Z human_phenotype HP:0100672 Vaginal hernia An abnormality of the placenta, the organ that connects the developing fetus to the uterine wall to enable nutrient uptake, waste elimination, and gas exchange. doelkens 2011-06-07T11:03:03Z human_phenotype HP:0100767 Abnormality of the placenta A malignant, trophoblastic and aggressive cancer, usually of the placenta. It is characterized by early hematogenous spread to the lungs and belongs to the far end of the spectrum of gestational trophoblastic disease (GTD), a subset of germ cell tumors. doelkens 2011-06-07T11:05:40Z MeSH:D002822 human_phenotype HP:0100768 Choriocarcinoma doelkens 2011-06-08T02:33:37Z MeSH:D006547 human_phenotype Hernias HP:0100790 Hernia doelkens 2011-06-09T05:11:49Z human_phenotype HP:0100823 Genital hernia Hamartoma-like growth in the placenta consisting of blood vessels. doelkens 2011-12-01T02:50:56Z human_phenotype HP:0100883 Chorangioma Repeated episodes of abortion (Expulsion of the product of fertilization before completing the term of gestation) without deliberate interference. sebastiankohler 2013-05-31T01:33:01Z human_phenotype Spontaneous abortion, recurrent HP:0200067 Recurrent spontaneous abortion Frequent menses; menstrual cycles lasting less than 21 days. UMLS:C0032519 Polymenorrhea Prolonged/excessive menses and bleeding at irregular intervals. UMLS:C0232943 Menometrorrhagia