Human Phenotype Ontology 
Grandparent Node:
expand
Prenatal maternal abnormality (HP:0002686)help
Parent Node:
expand
Toxemia of pregnancy (HP:0100603)help
..Starting node
..expand
Preeclampsia (HP:0100602)help
Term ID: 100602
Name: Preeclampsia
Synonym: Pre-eclampsia
Definition: Pregnancy-induced hypertension in association with significant amounts of protein in the urine.
Comments:
Reference: HP:0100602
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandEclampsia (HP:0100601) help
..expandMaternal hypertension (HP:0008071) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100602HP:0100602Preeclampsia0ABCB11 CL E G H864742ORPHA:69665Intrahepatic cholestasis of pregnancyHP:0040283 - Occasional146
HP:0100602HP:0100602Preeclampsia0ABCB4 CL E G H524445ORPHA:69665Intrahepatic cholestasis of pregnancyHP:0040283 - Occasional111
HP:0100602HP:0100602Preeclampsia0ADGRG6 CL E G H5721113841OMIM:616503Lethal congenital contracture syndrome 9.5
HP:0100602HP:0100602Preeclampsia0ATP8B1 CL E G H52053706ORPHA:69665Intrahepatic cholestasis of pregnancyHP:0040283 - Occasional144
HP:0100602HP:0100602Preeclampsia0CD46 CL E G H41796953ORPHA:244242HELLP syndromeHP:0040282 - Frequent39
HP:0100602HP:0100602Preeclampsia0CFH CL E G H30754883ORPHA:244242HELLP syndromeHP:0040282 - Frequent86
HP:0100602HP:0100602Preeclampsia0CFI CL E G H34265394ORPHA:244242HELLP syndromeHP:0040282 - Frequent57
HP:0100602HP:0100602Preeclampsia0CORIN CL E G H1069919012OMIM:614595Preeclampsia/eclampsia 55
HP:0100602HP:0100602Preeclampsia0CYP11B1 CL E G H15842591ORPHA:403Familial hyperaldosteronism type IHP:0040283 - Occasional112
HP:0100602HP:0100602Preeclampsia0CYP11B2 CL E G H15852592ORPHA:403Familial hyperaldosteronism type IHP:0040283 - Occasional73
HP:0100602HP:0100602Preeclampsia0DHPS CL E G H17252869OMIM:618480Neurodevelopmental disorder with seizures and speech and walking impairment.
HP:0100602HP:0100602Preeclampsia0EP300 CL E G H20333373OMIM:613684Rubinstein-Taybi syndrome 2HP:0040283 - Occasional250
HP:0100602HP:0100602Preeclampsia0F5 CL E G H21533542OMIM:188055Thrombophilia due to deficiency of activated protein C cofactor.159
HP:0100602HP:0100602Preeclampsia0FDXR CL E G H22323642ORPHA:543470Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndromeHP:0040283 - Occasional
HP:0100602HP:0100602Preeclampsia0HBA1 CL E G H30394823ORPHA:163596Hb Bart's hydrops fetalisHP:0040282 - Frequent200
HP:0100602HP:0100602Preeclampsia0HBA2 CL E G H30404824ORPHA:163596Hb Bart's hydrops fetalisHP:0040282 - Frequent88
HP:0100602HP:0100602Preeclampsia0HELLPAR CL E G H10110169243984ORPHA:244242HELLP syndromeHP:0040282 - Frequent
HP:0100602HP:0100602Preeclampsia0LBR CL E G H39306518ORPHA:1426Greenberg dysplasiaHP:0040282 - Frequent70
HP:0100602HP:0100602Preeclampsia0NOS3 CL E G H48467876OMIM:189800Preeclampsia/eclampsia 1.8
HP:0100602HP:0100602Preeclampsia0NR1H4 CL E G H99717967ORPHA:69665Intrahepatic cholestasis of pregnancyHP:0040283 - Occasional14
HP:0100602HP:0100602Preeclampsia0PPARG CL E G H54689236OMIM:604367Lipodystrophy, familial partial, type 3.42
HP:0100602HP:0100602Preeclampsia0SLC25A20 CL E G H7881421ORPHA:159Carnitine-acylcarnitine translocase deficiencyHP:0040283 - Occasional40
HP:0100602HP:0100602Preeclampsia0STOX1 CL E G H21973623508OMIM:609404Preeclampsia/eclampsia 42


Genes (23) :ABCB11 ABCB4 ADGRG6 ATP8B1 CD46 CFH CFI CORIN CYP11B1 CYP11B2 DHPS EP300 F5 FDXR HBA1 HBA2 HELLPAR LBR NOS3 NR1H4 PPARG SLC25A20 STOX1

Diseases (15) :ORPHA:69665 OMIM:616503 ORPHA:244242 OMIM:614595 ORPHA:403 OMIM:618480 OMIM:613684 OMIM:188055 ORPHA:543470 ORPHA:163596 ORPHA:1426 OMIM:189800 OMIM:604367 ORPHA:159 OMIM:609404
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.