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:
Abnormal serum bile acid concentration (HP:0030984)

Parent Node:
Increased serum bile acid concentration (HP:0012202)

..Starting node
..Increased serum bile acid concentration during pregnancy (HP:0200150)

Term ID:

200150

Name:

Increased serum bile acid concentration during pregnancy

Synonym:

Increased serum bile acid concentration during pregnancy, resolves

Definition:

Comments:

Reference:

HP:0200150

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0200150	HP:0200150	Increased serum bile acid concentration during pregnancy	0	ABCB4 CL E G H	5244	45	OMIM:614972	Cholestasis, intrahepatic, of pregnancy 3	.	111
HP:0200150	HP:0200150	Increased serum bile acid concentration during pregnancy	0	ATP8B1 CL E G H	5205	3706	OMIM:147480	Cholestasis, intrahepatic, of pregnancy, 1	.	144

Genes (2) :ABCB4 ATP8B1

Diseases (2) :OMIM:614972 OMIM:147480

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