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