Human Phenotype Ontology 
Grandparent Node:
expand
All (HP:0000001)help
Parent Node:
expand
Phenotypic abnormality (HP:0000118)help
..Starting node
..expand
Abnormality of prenatal development or birth (HP:0001197)help
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:
........expandAbnormalities of placenta or umbilical cord (HP:0001194) help
................... HP:0010881 Abnormality of the umbilical cord
................... HP:0011409 Abnormality of placental membranes
................... HP:0100767 Abnormality of the placenta
........expandPrenatal movement abnormality (HP:0001557) help
................... HP:0001558 Decreased fetal movement
................... HP:0010519 Increased fetal movement
........expandAbnormality of the amniotic fluid (HP:0001560) help
................... HP:0001561 Polyhydramnios
................... HP:0001562 Oligohydramnios
................... HP:0001563 Fetal polyuria
................... HP:0012420 Meconium stained amniotic fluid
........expandPremature birth (HP:0001622) help
................... HP:0005100 Premature birth following premature rupture of fetal membranes
................... HP:0005267 Premature delivery because of cervical insufficiency or membrane fragility
........expandAbnormal delivery (HP:0001787) help
................... 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
........expandHydrops fetalis (HP:0001789) help
................... HP:0001790 Nonimmune hydrops fetalis
................... HP:0005099 Severe hydrops fetalis
........expandFetal ascites (HP:0001791) help
........expandPrenatal maternal abnormality (HP:0002686) help
................... 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
........expandIncreased nuchal translucency (HP:0010880) help
................... HP:0010878 Fetal cystic hygroma
........expandFetal ultrasound soft marker (HP:0011425) help
................... 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
........expandFetal distress (HP:0025116) help
........expandIntrauterine fetal demise of one twin after midgestation (HP:0030753) help
........expandLow APGAR score (HP:0030917) help
................... HP:0030918 Low 1-minute APGAR score
................... HP:0030919 Low 5-minute APGAR score
........expandTwin-to-twin transfusion (HP:0031110) help
........expandPostterm pregnancy (HP:0031169) help
........expandFemale fetal virilization (HP:0031170) help

 Sister Nodes: 
..expandAbnormal cellular phenotype (HP:0025354) help
..expandAbnormality of blood and blood-forming tissues (HP:0001871) help
..expandAbnormality of connective tissue (HP:0003549) help
..expandAbnormality of head or neck (HP:0000152) help
..expandAbnormality of limbs (HP:0040064) help
..expandAbnormality of metabolism/homeostasis (HP:0001939) help
..expandAbnormality of the breast (HP:0000769) help
..expandAbnormality of the cardiovascular system (HP:0001626) help
..expandAbnormality of the digestive system (HP:0025031) help
..expandAbnormality of the ear (HP:0000598) help
..expandAbnormality of the endocrine system (HP:0000818) help
..expandAbnormality of the eye (HP:0000478) help
..expandAbnormality of the genitourinary system (HP:0000119) help
..expandAbnormality of the immune system (HP:0002715) help
..expandAbnormality of the integument (HP:0001574) help
..expandAbnormality of the musculature (HP:0003011) help
..expandAbnormality of the nervous system (HP:0000707) help
..expandAbnormality of the respiratory system (HP:0002086) help
..expandAbnormality of the skeletal system (HP:0000924) help
..expandAbnormality of the thoracic cavity (HP:0045027) help
..expandAbnormality of the voice (HP:0001608) help
..expandConstitutional symptom (HP:0025142) help
..expandGrowth abnormality (HP:0001507) help
..expandNeoplasm (HP:0002664) help
..expandobsolete Abnormal test result (HP:0500014) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001197HP:0001197Abnormality of prenatal development or birth0CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0001197Abnormality of prenatal development or birth0CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0030917Low APGAR score1CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0031170Female fetal virilization1CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0025116Fetal distress1CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0001789Hydrops fetalis1CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0033334Abnormal embryonic development1CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0030753Intrauterine fetal demise of one twin after midgestation1CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0032479Preimplantation lethality1CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0032269Lemon sign1CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0001622Premature birth1CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0031110Twin-to-twin transfusion1CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0010880Increased nuchal translucency1CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0002686Prenatal maternal abnormality1CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0001194Abnormalities of placenta or umbilical cord1CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0001791Fetal ascites1CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0001787Abnormal delivery1CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0011425Fetal ultrasound soft marker1CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0001557Prenatal movement abnormality1CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0001560Abnormality of the amniotic fluid1CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0031169Postterm pregnancy1CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0032269Lemon sign1CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0001622Premature birth1CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0031110Twin-to-twin transfusion1CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0010880Increased nuchal translucency1CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0002686Prenatal maternal abnormality1CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0001194Abnormalities of placenta or umbilical cord1CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0001791Fetal ascites1CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0001787Abnormal delivery1CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0011425Fetal ultrasound soft marker1CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0001557Prenatal movement abnormality1CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0001560Abnormality of the amniotic fluid1CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0031169Postterm pregnancy1CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0030753Intrauterine fetal demise of one twin after midgestation1CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0032479Preimplantation lethality1CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0030917Low APGAR score1CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0031170Female fetal virilization1CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0025116Fetal distress1CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0001789Hydrops fetalis1CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0033334Abnormal embryonic development1CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0010519Increased fetal movement2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0005099Severe hydrops fetalis2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0001562Oligohydramnios2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0011410Caesarian section2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0011426Fetal choroid plexus cysts2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0012546Skewed maternal X inactivation2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0010878Fetal cystic hygroma2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0011413Shoulder dystocia2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0011409Abnormal placental membrane morphology2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0005267Premature delivery because of cervical insufficiency or membrane fragility2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0030244Maternal fever in pregnancy2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0012188Hyperemesis gravidarum2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0010945Fetal pyelectasis2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0011436Abnormal maternal serum screening2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0100767Abnormal placenta morphology2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0011411Forceps delivery2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0001195Single umbilical artery2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0011430Hypoplasia of fetal nasal bone2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0100610Maternal hyperphenylalaninemia2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0030365Vaginal birth after Caesarian2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0032192Hydatidiform mole2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0001623Breech presentation2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0010963Absence of stomach bubble on fetal sonography2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0040222Maternal thrombophilia2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0012498Nuchal cord2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0011428Short fetal femur length2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0001558Decreased fetal movement2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0001563Fetal polyuria2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0010942Echogenic intracardiac focus2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0031437Pregnancy exposure2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0005100Premature birth following premature rupture of fetal membranes2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0012420Meconium stained amniotic fluid2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0011427Enlarged fetal cisterna magna2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0030919Low 5-minute APGAR score2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0012541Cephalohematoma2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0001561Polyhydramnios2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0033467Low 10-minute APGAR score2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0031456Ectopic pregnancy2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0011431Fetal fifth finger clinodactyly2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0100603Toxemia of pregnancy2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0000474Thickened nuchal skin fold2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0005268Spontaneous abortion2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0030918Low 1-minute APGAR score2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0011437Maternal autoimmune disease2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0030366Delivery by Odon device2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0030449Therapeutic abortion2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0100622Maternal seizure2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0030369Induced vaginal delivery2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0010952Mild fetal ventriculomegaly2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0009800Maternal diabetes2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0011412Ventouse delivery2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0010881Abnormality of the umbilical cord2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0010943Echogenic fetal bowel2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0008072Maternal virilization in pregnancy2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0001788Premature rupture of membranes2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0011429Short fetal humerus length2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0001790Nonimmune hydrops fetalis2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0033335Abnormal preimplantation embryonic development2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0011427Enlarged fetal cisterna magna2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0030919Low 5-minute APGAR score2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0012541Cephalohematoma2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0001561Polyhydramnios2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0033467Low 10-minute APGAR score2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0031456Ectopic pregnancy2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0011431Fetal fifth finger clinodactyly2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0100603Toxemia of pregnancy2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0000474Thickened nuchal skin fold2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0005268Spontaneous abortion2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0030918Low 1-minute APGAR score2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0011437Maternal autoimmune disease2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0030366Delivery by Odon device2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0030449Therapeutic abortion2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0100622Maternal seizure2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0030369Induced vaginal delivery2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0010952Mild fetal ventriculomegaly2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0009800Maternal diabetes2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0011412Ventouse delivery2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0010881Abnormality of the umbilical cord2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0010943Echogenic fetal bowel2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0008072Maternal virilization in pregnancy2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0001788Premature rupture of membranes2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0011429Short fetal humerus length2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0001790Nonimmune hydrops fetalis2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0033335Abnormal preimplantation embryonic development2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0012420Meconium stained amniotic fluid2CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0005100Premature birth following premature rupture of fetal membranes2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0010519Increased fetal movement2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0005099Severe hydrops fetalis2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0001562Oligohydramnios2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0011410Caesarian section2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0011426Fetal choroid plexus cysts2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0012546Skewed maternal X inactivation2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0010878Fetal cystic hygroma2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0011413Shoulder dystocia2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0011409Abnormal placental membrane morphology2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0005267Premature delivery because of cervical insufficiency or membrane fragility2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0030244Maternal fever in pregnancy2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0012188Hyperemesis gravidarum2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0010945Fetal pyelectasis2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0011436Abnormal maternal serum screening2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0100767Abnormal placenta morphology2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0011411Forceps delivery2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0001195Single umbilical artery2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0011430Hypoplasia of fetal nasal bone2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0100610Maternal hyperphenylalaninemia2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0030365Vaginal birth after Caesarian2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0032192Hydatidiform mole2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0001623Breech presentation2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0010963Absence of stomach bubble on fetal sonography2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0040222Maternal thrombophilia2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0012498Nuchal cord2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0011428Short fetal femur length2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0001558Decreased fetal movement2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0001563Fetal polyuria2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0010942Echogenic intracardiac focus2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0031437Pregnancy exposure2CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:4000008Formation of multiple pronuclei during fertilization3CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:00309331-minute APGAR score of 63CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0011435Low maternal serum PAPP-A3CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:00309205-minute APGAR score of 03CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0030654Umbilical cord cyst3CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0033336Zygotic cleavage failure3CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:003346810-minute APGAR score of 03CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0030364Secondary Caesarian section3CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0011415Calcified placenta3CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:00309225-minute APGAR score of 23CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0100601Eclampsia3CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0200067Recurrent spontaneous abortion3CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0030655Umbilical cord knot3CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:00309271-minute APGAR score of 03CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0030246Maternal first trimester fever3CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:003347010-minute APGAR score of 23CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0012536Maternal anticardiolipin antibody positive3CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0100768Choriocarcinoma3CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:00309245-minute APGAR score of 43CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0100602Preeclampsia3CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0033552Chronic villitis3CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:00309291-minute APGAR score of 23CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0011433High maternal serum chorionic gonadotropin3CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0011418Abnormal insertion of umbilical cord3CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:003347210-minute APGAR score of 43CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0011416Placental infarction3CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0032434Delayed umbilical cord separation3CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:00309265-minute APGAR score of 63CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0410210Abnormal cord blood measurement3CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:00309311-minute APGAR score of 43CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0011434Low maternal serum chorionic gonadotropin3CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0010859Frank breech presentation3CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:003347410-minute APGAR score of 63CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0030720Subchorionic septal cyst3CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0032435Neonatal omphalitis3CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:00309321-minute APGAR score of 53CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0008073Low maternal serum estriol3CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0010861Incomplete breech presentation3CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0011438Maternal teratogenic exposure3CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0005100Premature birth following premature rupture of fetal membranes3CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0030714Subchorionic thrombohematoma3CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0001196Short umbilical cord3CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0033712Repeated implantation failure3CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0030363Primary Caesarian section3CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0011403Abnormal umbilical cord blood vessels3CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:00309215-minute APGAR score of 13CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0009775Amniotic constriction ring3CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0030657Umbilical cord hematoma3CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0030245Intrapartum fever3CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:003346910-minute APGAR score of 13CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0100883Chorangioma3CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0011129Bilateral fetal pyelectasis3CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:00309235-minute APGAR score of 33CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0008071Maternal hypertension3CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0030763Amniotic Sheet3CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0030656Umbilical vein varix3CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:00309281-minute APGAR score of 13CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0011432High maternal serum alpha-fetoprotein3CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0033042Abnormal chorion morphology3CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:003347110-minute APGAR score of 33CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0011419Placental abruption3CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:00309255-minute APGAR score of 53CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:00309301-minute APGAR score of 33CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0010570Low maternal serum alpha-fetoprotein3CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0010860Complete breech presentation3CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0012767Abnormal placental size3CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:003347310-minute APGAR score of 53CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0032165Placental mesenchymal dysplasia3CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0011417Long umbilical cord3CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0001989Fetal akinesia sequence3CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0011438Maternal teratogenic exposure3CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0005100Premature birth following premature rupture of fetal membranes3CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0030714Subchorionic thrombohematoma3CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0001196Short umbilical cord3CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0033712Repeated implantation failure3CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0030363Primary Caesarian section3CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0011403Abnormal umbilical cord blood vessels3CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:00309215-minute APGAR score of 13CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0009775Amniotic constriction ring3CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0030657Umbilical cord hematoma3CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0030245Intrapartum fever3CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:003346910-minute APGAR score of 13CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0100883Chorangioma3CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0011129Bilateral fetal pyelectasis3CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:00309235-minute APGAR score of 33CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0008071Maternal hypertension3CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0030763Amniotic Sheet3CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0030656Umbilical vein varix3CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:00309281-minute APGAR score of 13CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0011432High maternal serum alpha-fetoprotein3CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0033042Abnormal chorion morphology3CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:003347110-minute APGAR score of 33CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0011419Placental abruption3CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:00309255-minute APGAR score of 53CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:00309301-minute APGAR score of 33CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0010570Low maternal serum alpha-fetoprotein3CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0010860Complete breech presentation3CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0012767Abnormal placental size3CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:003347310-minute APGAR score of 53CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0032165Placental mesenchymal dysplasia3CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0011417Long umbilical cord3CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0001989Fetal akinesia sequence3CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:00309321-minute APGAR score of 53CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0008073Low maternal serum estriol3CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0010861Incomplete breech presentation3CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0030720Subchorionic septal cyst3CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0032435Neonatal omphalitis3CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:4000008Formation of multiple pronuclei during fertilization3CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:00309331-minute APGAR score of 63CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0011435Low maternal serum PAPP-A3CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:00309205-minute APGAR score of 03CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0030654Umbilical cord cyst3CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0033336Zygotic cleavage failure3CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:003346810-minute APGAR score of 03CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0030364Secondary Caesarian section3CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0011415Calcified placenta3CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:00309225-minute APGAR score of 23CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0100601Eclampsia3CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0200067Recurrent spontaneous abortion3CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0030655Umbilical cord knot3CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:00309271-minute APGAR score of 03CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0030246Maternal first trimester fever3CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:003347010-minute APGAR score of 23CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0012536Maternal anticardiolipin antibody positive3CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0100768Choriocarcinoma3CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:00309245-minute APGAR score of 43CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0100602Preeclampsia3CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0033552Chronic villitis3CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:00309291-minute APGAR score of 23CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0011433High maternal serum chorionic gonadotropin3CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0011418Abnormal insertion of umbilical cord3CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:003347210-minute APGAR score of 43CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0011416Placental infarction3CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0032434Delayed umbilical cord separation3CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:00309265-minute APGAR score of 63CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0410210Abnormal cord blood measurement3CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:00309311-minute APGAR score of 43CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0011434Low maternal serum chorionic gonadotropin3CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0010859Frank breech presentation3CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:003347410-minute APGAR score of 63CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0030659Velamentous cord insertion4CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0010949Abnormality of umbilical vein blood flow4CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0010495Amniotic constriction rings of legs4CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0010491Digital constriction ring4CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0033043Edematous chorionic villi4CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0032548Increased placental thickness4CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0030658Marginal umbilical cord insertion4CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0006267Large placenta4CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0033991Vasa previa4CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0006266Small placenta4CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0032513Four-vessel umbilical cord4CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0010483Amniotic constriction rings of arms4CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0001195Single umbilical artery4CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0030660Furcate cord insertion4CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0410211Abnormal blood gas level in cord blood4CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0006267Large placenta4CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0033991Vasa previa4CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0006266Small placenta4CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0032513Four-vessel umbilical cord4CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0010483Amniotic constriction rings of arms4CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0001195Single umbilical artery4CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0030660Furcate cord insertion4CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0410211Abnormal blood gas level in cord blood4CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0030659Velamentous cord insertion4CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0010949Abnormality of umbilical vein blood flow4CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0010495Amniotic constriction rings of legs4CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0010491Digital constriction ring4CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0033043Edematous chorionic villi4CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0032548Increased placental thickness4CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0030658Marginal umbilical cord insertion4CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0500258Abnormal carbon dioxide level in cord blood5CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0011414Hydropic placenta5CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0500259Abnormal oxygen level in cord blood5CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0500259Abnormal oxygen level in cord blood5CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0500258Abnormal carbon dioxide level in cord blood5CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0011414Hydropic placenta5CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0410215Hypocapnia in cord blood6CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0410212Hyperoxemia in cord blood6CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0410214Hypercapnia in cord blood6CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0410213Hypoxemia in cord blood6CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0410214Hypercapnia in cord blood6CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0410213Hypoxemia in cord blood6CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0001197HP:0410215Hypocapnia in cord blood6CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0001197HP:0410212Hyperoxemia in cord blood6CYP11B1 CL E G H158490795ORPHA14822591610613
 
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 97240 171439 171436 2020 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.