Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
All (HP:0000001)

Parent Node:
Phenotypic abnormality (HP:0000118)

..Starting node
..Abnormality of prenatal development or birth (HP:0001197)

Term ID:

1197

Name:

Abnormality of prenatal development or birth

Synonym:

Abnormality of prenatal development or birth

Definition:

An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities.

Comments:

Reference:

HP:0001197

Genes and Diseases:

Child Nodes:

........

Abnormalities of placenta or umbilical cord (HP:0001194)

................... HP:0010881 Abnormality of the umbilical cord
................... HP:0011409 Abnormality of placental membranes
................... HP:0100767 Abnormality of the placenta

........

Prenatal movement abnormality (HP:0001557)

................... HP:0001558 Decreased fetal movement
................... HP:0010519 Increased fetal movement

........

Abnormality of the amniotic fluid (HP:0001560)

................... HP:0001561 Polyhydramnios
................... HP:0001562 Oligohydramnios
................... HP:0001563 Fetal polyuria
................... HP:0012420 Meconium stained amniotic fluid

........

Premature birth (HP:0001622)

................... HP:0005100 Premature birth following premature rupture of fetal membranes
................... HP:0005267 Premature delivery because of cervical insufficiency or membrane fragility

........

Abnormal delivery (HP:0001787)

................... HP:0001623 Breech presentation
................... HP:0001788 Premature rupture of membranes
................... HP:0005268 Spontaneous abortion
................... HP:0011410 Caesarian section
................... HP:0011411 Forceps delivery
................... HP:0011412 Ventouse delivery
................... HP:0011413 Shoulder dystocia
................... HP:0012498 Nuchal cord
................... HP:0012541 Cephalohematoma
................... HP:0030365 Vaginal birth after Caesarian
................... HP:0030366 Delivery by Odon device
................... HP:0030369 Induced vaginal delivery
................... HP:0030449 Therapeutic abortion

........

Hydrops fetalis (HP:0001789)

................... HP:0001790 Nonimmune hydrops fetalis
................... HP:0005099 Severe hydrops fetalis

........

Fetal ascites (HP:0001791)

........

Prenatal maternal abnormality (HP:0002686)

................... HP:0008072 Maternal virilization in pregnancy
................... HP:0009800 Maternal diabetes
................... HP:0011436 Abnormal maternal serum screening
................... HP:0011437 Maternal autoimmune disease
................... HP:0012188 Hyperemesis gravidarum
................... HP:0012546 Skewed maternal X inactivation
................... HP:0030244 Maternal fever in pregnancy
................... HP:0031437 Pregnancy exposure
................... HP:0031456 Ectopic pregnancy
................... HP:0040222 Maternal thrombophilia
................... HP:0100603 Toxemia of pregnancy
................... HP:0100610 Maternal hyperphenylalaninemia
................... HP:0100622 Maternal seizures

........

Increased nuchal translucency (HP:0010880)

................... HP:0010878 Fetal cystic hygroma

........

Fetal ultrasound soft marker (HP:0011425)

................... HP:0000474 Thickened nuchal skin fold
................... HP:0001195 Single umbilical artery
................... HP:0010942 Echogenic intracardiac focus
................... HP:0010943 Echogenic fetal bowel
................... HP:0010945 Fetal pyelectasis
................... HP:0010952 Mild fetal ventriculomegaly
................... HP:0010963 Absence of stomach bubble on fetal sonography
................... HP:0011426 Fetal choroid plexus cysts
................... HP:0011427 Enlarged fetal cisterna magna
................... HP:0011428 Short fetal femur length
................... HP:0011429 Short fetal humerus length
................... HP:0011430 Hypoplasia of fetal nasal bone
................... HP:0011431 Fetal fifth finger clinodactyly

........

Fetal distress (HP:0025116)

........

Intrauterine fetal demise of one twin after midgestation (HP:0030753)

........

Low APGAR score (HP:0030917)

................... HP:0030918 Low 1-minute APGAR score
................... HP:0030919 Low 5-minute APGAR score

........

Twin-to-twin transfusion (HP:0031110)

........

Postterm pregnancy (HP:0031169)

........

Female fetal virilization (HP:0031170)

Sister Nodes:

Abnormal cellular phenotype (HP:0025354)

Abnormality of blood and blood-forming tissues (HP:0001871)

Abnormality of connective tissue (HP:0003549)

Abnormality of head or neck (HP:0000152)

Abnormality of limbs (HP:0040064)

Abnormality of metabolism/homeostasis (HP:0001939)

Abnormality of the breast (HP:0000769)

Abnormality of the cardiovascular system (HP:0001626)

Abnormality of the digestive system (HP:0025031)

Abnormality of the ear (HP:0000598)

Abnormality of the endocrine system (HP:0000818)

Abnormality of the eye (HP:0000478)

Abnormality of the genitourinary system (HP:0000119)

Abnormality of the immune system (HP:0002715)

Abnormality of the integument (HP:0001574)

Abnormality of the musculature (HP:0003011)

Abnormality of the nervous system (HP:0000707)

Abnormality of the respiratory system (HP:0002086)

Abnormality of the skeletal system (HP:0000924)

Abnormality of the thoracic cavity (HP:0045027)

Abnormality of the voice (HP:0001608)

Constitutional symptom (HP:0025142)

Growth abnormality (HP:0001507)

Neoplasm (HP:0002664)

obsolete Abnormal test result (HP:0500014)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0030917	Low APGAR score	1	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0025116	Fetal distress	1	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0032269	Lemon sign	1	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0031110	Twin-to-twin transfusion	1	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0001791	Fetal ascites	1	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0001622	Premature birth	1	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0001557	Prenatal movement abnormality	1	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0031170	Female fetal virilization	1	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0001789	Hydrops fetalis	1	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0032479	Preimplantation lethality	1	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0033334	Abnormal embryonic development	1	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0030753	Intrauterine fetal demise of one twin after midgestation	1	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0011425	Fetal ultrasound soft marker	1	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0031169	Postterm pregnancy	1	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0010880	Increased nuchal translucency	1	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0001787	Abnormal delivery	1	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0001562	Oligohydramnios	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0010878	Fetal cystic hygroma	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0011409	Abnormal placental membrane morphology	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0100767	Abnormal placenta morphology	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0100610	Maternal hyperphenylalaninemia	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0012498	Nuchal cord	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0010942	Echogenic intracardiac focus	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0031437	Pregnancy exposure	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0005099	Severe hydrops fetalis	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0011413	Shoulder dystocia	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0005267	Premature delivery because of cervical insufficiency or membrane fragility	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0010945	Fetal pyelectasis	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0030365	Vaginal birth after Caesarian	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0032192	Hydatidiform mole	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0011428	Short fetal femur length	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0001558	Decreased fetal movement	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0012541	Cephalohematoma	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0011437	Maternal autoimmune disease	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0030369	Induced vaginal delivery	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0010943	Echogenic fetal bowel	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0008072	Maternal virilization in pregnancy	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0011431	Fetal fifth finger clinodactyly	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0100603	Toxemia of pregnancy	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0030449	Therapeutic abortion	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0010952	Mild fetal ventriculomegaly	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0033335	Abnormal preimplantation embryonic development	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0012420	Meconium stained amniotic fluid	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0011410	Caesarian section	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0012188	Hyperemesis gravidarum	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0011411	Forceps delivery	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0001195	Single umbilical artery	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0010963	Absence of stomach bubble on fetal sonography	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0040222	Maternal thrombophilia	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0005100	Premature birth following premature rupture of fetal membranes	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0011426	Fetal choroid plexus cysts	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0012546	Skewed maternal X inactivation	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0030244	Maternal fever in pregnancy	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0011436	Abnormal maternal serum screening	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0011430	Hypoplasia of fetal nasal bone	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0001623	Breech presentation	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0001563	Fetal polyuria	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0010519	Increased fetal movement	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0001561	Polyhydramnios	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0031456	Ectopic pregnancy	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0000474	Thickened nuchal skin fold	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0030918	Low 1-minute APGAR score	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0030366	Delivery by Odon device	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0100622	Maternal seizure	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0009800	Maternal diabetes	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0001788	Premature rupture of membranes	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0011427	Enlarged fetal cisterna magna	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0033467	Low 10-minute APGAR score	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0005268	Spontaneous abortion	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0011412	Ventouse delivery	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0011429	Short fetal humerus length	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0030919	Low 5-minute APGAR score	2	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0011435	Low maternal serum PAPP-A	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0030364	Secondary Caesarian section	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0030922	5-minute APGAR score of 2	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0012536	Maternal anticardiolipin antibody positive	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0033552	Chronic villitis	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0030929	1-minute APGAR score of 2	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0032434	Delayed umbilical cord separation	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0030926	5-minute APGAR score of 6	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0030933	1-minute APGAR score of 6	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0030654	Umbilical cord cyst	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0011415	Calcified placenta	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0100601	Eclampsia	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0030246	Maternal first trimester fever	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0033470	10-minute APGAR score of 2	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0011433	High maternal serum chorionic gonadotropin	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0011416	Placental infarction	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0010859	Frank breech presentation	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0033474	10-minute APGAR score of 6	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:4000008	Formation of multiple pronuclei during fertilization	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0030714	Subchorionic thrombohematoma	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0030363	Primary Caesarian section	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0011403	Abnormal umbilical cord blood vessels	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0030921	5-minute APGAR score of 1	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0030763	Amniotic Sheet	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0030928	1-minute APGAR score of 1	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0030925	5-minute APGAR score of 5	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0012767	Abnormal placental size	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0030932	1-minute APGAR score of 5	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0005100	Premature birth following premature rupture of fetal membranes	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0001196	Short umbilical cord	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0030245	Intrapartum fever	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0033469	10-minute APGAR score of 1	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0030656	Umbilical vein varix	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0011432	High maternal serum alpha-fetoprotein	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0011419	Placental abruption	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0010860	Complete breech presentation	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0033473	10-minute APGAR score of 5	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0008073	Low maternal serum estriol	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0030920	5-minute APGAR score of 0	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0033336	Zygotic cleavage failure	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0030927	1-minute APGAR score of 0	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0030924	5-minute APGAR score of 4	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0410210	Abnormal cord blood measurement	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0030931	1-minute APGAR score of 4	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0032435	Neonatal omphalitis	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0033468	10-minute APGAR score of 0	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0200067	Recurrent spontaneous abortion	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0030655	Umbilical cord knot	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0100768	Choriocarcinoma	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0100602	Preeclampsia	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0011418	Abnormal insertion of umbilical cord	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0033472	10-minute APGAR score of 4	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0011434	Low maternal serum chorionic gonadotropin	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0030720	Subchorionic septal cyst	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0033712	Repeated implantation failure	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0009775	Amniotic constriction ring	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0030923	5-minute APGAR score of 3	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0033042	Abnormal chorion morphology	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0030930	1-minute APGAR score of 3	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0011417	Long umbilical cord	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0011438	Maternal teratogenic exposure	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0030657	Umbilical cord hematoma	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0100883	Chorangioma	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0011129	Bilateral fetal pyelectasis	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0008071	Maternal hypertension	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0033471	10-minute APGAR score of 3	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0010570	Low maternal serum alpha-fetoprotein	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0032165	Placental mesenchymal dysplasia	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0001989	Fetal akinesia sequence	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0010861	Incomplete breech presentation	3	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0010949	Abnormality of umbilical vein blood flow	4	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0032548	Increased placental thickness	4	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0030658	Marginal umbilical cord insertion	4	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0010483	Amniotic constriction rings of arms	4	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0001195	Single umbilical artery	4	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0410211	Abnormal blood gas level in cord blood	4	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0006266	Small placenta	4	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0030660	Furcate cord insertion	4	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0030659	Velamentous cord insertion	4	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0010495	Amniotic constriction rings of legs	4	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0010491	Digital constriction ring	4	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0033043	Edematous chorionic villi	4	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0032513	Four-vessel umbilical cord	4	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0006267	Large placenta	4	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0033991	Vasa previa	4	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0500258	Abnormal carbon dioxide level in cord blood	5	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0500259	Abnormal oxygen level in cord blood	5	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0011414	Hydropic placenta	5	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0410212	Hyperoxemia in cord blood	6	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0410215	Hypocapnia in cord blood	6	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0410214	Hypercapnia in cord blood	6	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HP:0001197	HP:0410213	Hypoxemia in cord blood	6	CYP11B1 CL E G H	1584	90795	ORPHA	1	582	2591	610613
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (560) :A2ML1 AARS ABCA12 ABCB4 ABCC6 ACE ACTA1 ACTA2 ACTG2 ADAMTS2 ADAMTS3 ADGRG6 AGGF1 AGRN AGT AGTR1 AHCY AIMP1 ALDH7A1 ALG1 ALG9 ALPL ALX4 AMER1 AP3B2 AQP2 ARHGAP31 ARNT2 ARV1 ARVCF ASCC1 ASCL1 ASXL1 ATN1 ATP6V0A2 ATP6V1A ATP8B1 AVPR2 B3GLCT B9D1 B9D2 BAZ1B BCR BICD2 BIN1 BMPER BRAF BRCA1 BRCA2 BRIP1 BSND BUB1 BUB1B BUB3 C9ORF72 CACNA1A CACNA1D CAMKMT CBL CC2D2A CCBE1 CCDC174 CCDC22 CD96 CDAN1 CDON CEP290 CEP55 CEP57 CFL2 CHAT CHD7 CHMP2B CHRM3 CHRNA1 CHRND CHRNE CHRNG CLCNKA CLCNKB CLIP2 CLTC CNKSR2 CNTN1 CNTNAP1 COL11A1 COL12A1 COL13A1 COL1A1 COL1A2 COL2A1 COL3A1 COL4A3BP COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COMT COQ7 CORIN COX15 CPLX1 CPT1A CPT2 CRB2 CREBBP CRKL CRPPA CRTAP CSPP1 CTBP1 CTSA CYFIP2 CYP11A1 CYP11B1 CYP11B2 CYP19A1 DEAF1 DHCR7 DHDDS DIS3L2 DISP1 DLL1 DLL4 DMPK DNA2 DNM1 DNM1L DNM2 DOCK6 DOK7 DONSON DYNC2H1 DYNC2LI1 EBF3 EBP EEF1A2 EFEMP2 EFNB1 ELN ENPP1 EOGT EP300 EPHB4 ERBB3 ERCC4 ERCC5 ERF ERGIC1 ESCO2 F5 F7 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAT4 FBLN5 FBN1 FERMT1 FGA FGB FGF12 FGF20 FGF8 FGFR1 FGFR3 FGFRL1 FGG FIG4 FLI1 FLII FLNB FLT4 FLVCR2 FOXE1 FOXE3 FOXF1 FOXH1 FUZ FZD4 GABRB2 GAS1 GATA1 GATA6 GBA GBE1 GFPT1 GJA1 GJB2 GLDN GLE1 GLI2 GLI3 GMPPB GP1BB GPC3 GPC4 GPC6 GPHN GPKOW GREB1L GRIN2D GRN GTF2I GTF2IRD1 GUSB HACD1 HADHA HADHB HBA1 HBA2 HCN1 HDAC8 HERC2 HESX1 HIC1 HIRA HNF1B HNRNPK HOXA13 HOXD13 HRAS HSD17B4 HSPA9 HSPG2 HTR1A HYLS1 HYMAI IBA57 IFT80 IGF1 IGHMBP2 IL1RN INPPL1 INSR INVS IPW IQSEC2 ITGA6 ITGA7 ITGA8 ITGB4 JAK2 JMJD1C KAT6B KBTBD13 KCNA2 KCNB1 KCNJ1 KCNJ11 KCNJ6 KIAA0586 KIDINS220 KIF14 KIF5C KIF7 KIT KLF1 KLHL40 KLHL41 KLHL7 KMT2A KRAS LAGE3 LARS2 LBR LETM1 LGI4 LHX1 LIFR LIMK1 LMNA LMOD1 LMOD3 LONP1 LOR LOX LRP5 LZTR1 MAD2L2 MAFB MAGED2 MAGEL2 MAP2K1 MAP2K2 MAP3K20 MAPK1 MAPT MAT2A MBTPS2 MCTP2 MEGF10 MFAP5 MGP MKRN3 MKRN3-AS1 MKS1 MPL MRPS22 MTM1 MTMR14 MUSK MYCN MYF6 MYH11 MYH3 MYH7 MYL2 MYLK MYMK MYO9A MYOD1 MYPN NALCN NDN NDP NEB NECAP1 NEK1 NEK8 NEK9 NELFA NEU1 NIPBL NKX2-5 NLRC4 NLRP3 NLRP7 NODAL NOTCH1 NPAP1 NPC1 NPC2 NPHP3 NR3C2 NRAS NSD2 NTRK2 NUP107 NUS1 OFD1 OPA1 ORC1 OSGEP OTX2 PACS1 PAFAH1B1 PAH PALB2 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PHGDH PHOX2B PIEZO1 PIGA PIGN PIGS PIGY PKHD1 PKLR PLAGL1 PLD1 PLEC PLOD1 PMM2 PNPO POMP POR PPARG PPM1B PPP3CA PREPL PRKG1 PROKR2 PRRX1 PSAT1 PSEN1 PTCH1 PTH1R PTPN11 PUF60 PWAR1 PWRN1 RAD21 RAD51 RAD51C RAF1 RAI1 RAPSN RASA2 RBPJ REN RET RFC2 RFWD3 RIT1 RNU4ATAC RPGRIP1 RPGRIP1L RPL11 RPS19 RRAS RREB1 RSPO2 RYR1 SARS2 SCARF2 SCN3A SCN8A SEC24C SEC24D SELENON SEMA3E SETD5 SF3B4 SHH SHOC2 SHPK SIN3A SIX3 SLC12A1 SLC13A5 SLC17A5 SLC18A3 SLC1A2 SLC25A1 SLC25A19 SLC25A20 SLC25A26 SLC26A2 SLC26A3 SLC27A4 SLC35D1 SLC3A1 SLC5A7 SLC6A9 SLC9A3 SLX4 SMAD3 SMARCAD1 SMC1A SMC3 SMG9 SMN1 SNAP25 SNORD115-1 SNORD116-1 SNRPB SNRPN SON SOS1 SOS2 SOX17 SOX18 SOX2 SOX3 SOX9 SPINT2 SQSTM1 STK11 STOX1 STRADA STXBP1 SUFU SYCP3 SYNGAP1 SYNJ1 SYT2 SZT2 TAF1 TALDO1 TAPT1 TBC1D24 TBL2 TBX1 TBX18 TCTN2 TCTN3 TDGF1 TGFB2 TGFB3 TGFBR1 TGFBR2 TGIF1 THPO TMCO1 TMEM106B TMEM107 TMEM216 TMEM231 TMEM67 TMEM70 TP53RK TPM2 TPM3 TPRKB TRAF7 TRAIP TRAK1 TREM2 TRIP11 TRIP13 TRIP4 TRPV4 TSEN54 TSFM TSHR TTC37 TTC7A UBA1 UBA5 UBE2T UFD1 UROS VAC14 VAMP1 VANGL1 VCP VPS13B WASHC5 WDPCP WDR34 WDR35 WDR4 WDR60 WDR62 WDR73 WHCR WNT3 WNT4 WNT7A WRN WWOX XIST XRCC2 YWHAE YWHAG ZBTB42 ZC4H2 ZIC2 ZMPSTE24

Diseases (403) :90795 242500 614972 171430 171433 91387 225410 2136 90308 88618 260600 266100 608540 974 616867 147480 904 261330 608022 115150 1340 602522 1052 224120 280200 613090 440354 228520 287 166210 93296 85166 200610 286 255120 219730 289548 168558 818 270400 208150 93271 3103 616914 1860 93274 3472 216340 2308 1263 108720 225790 90050 85212 77261 608013 232500 253310 93329 584 253220 609015 163596 199 887 218040 261515 800 2189 604320 612852 158684 241200 616546 613673 2065 275210 616165 300971 611719 2053 1880 263520 617022 256550 1451 257220 607625 261600 912 300868 280633 766 266200 212093 212065 79096 610090 201750 50945 215045 2636 616651 612562 105650 255320 613845 154400 601678 269920 93298 600972 214700 88621 617301 500150 69735 611087 101028 616897 614052 93299 200600 616866 609152 222470 613610 614091 2879 648 442835 758 267430 171436 2020 171439 97240 255310 161800 2241 155310 616503 98914 263210 241500 228390 300373 223 3157 567 99803 97297 605039 125370 2834 278250 709 261540 564 363454 169189 84 257300 100070 275864 369929 163693 613563 616816 7 1308 236500 138 2970 100100 253290 616322 608931 265000 612540 616286 75840 130060 130050 616351 130000 158810 616733 615119 194190 608836 180849 614643 610682 256540 403 91 819 267000 160900 352470 614388 615368 614219 994 254300 251230 617088 617330 302960 614437 1520 617300 607598 616570 617180 1143 268300 327 3412 219100 98880 1848 187600 187601 56305 153100 241850 1226 210122 265380 3027 79277 190685 2255 600001 2248 617194 1486 672 615350 615351 373 615501 2570 176270 531 261265 616580 2438 3071 616854 236680 96191 615330 3144 258480 508 602088 79403 226730 191830 71493 3047 606170 616329 610582 435628 521390 616258 615731 3339 617021 215140 280 3206 1662 157973 613205 600373 2774 308205 1596 614399 245150 249000 310400 164280 193700 254940 256030 615833 615415 231090 3032 267010 208540 300209 616896 224690 990 615009 214100 614886 614882 2671 256520 616843 2059 614080 616809 263200 612138 225400 95699 79083 604367 163690 616038 508488 616326 615355 210710 3301 98905 600920 616294 607721 440713 613406 99742 616794 56304 269250 617143 616868 616920 253300 616330 117650 613674 607823 114290 270420 300966 606003 79500 2190 2753 1394 213980 615397 1194 618164 616777 600175 225753 610505 99819 603373 436252 2300 243150 1145 301830 193 220210 615633 615503 604317 251300 273395 139466 902 300087 616248 314580 614595 613684 188055 173650 273300 494 124500 611890 614674 615282 615348 1426 617468 2348 79395 615547 605115 618143 601952 597 159 1658 609404 270960 156530 73272

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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