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 liver morphology (HP:0410042)

Grandparent Node:
Increased inflammatory response (HP:0012649)

Parent Node:
Hepatitis (HP:0012115)

..Starting node
..Atypical or prolonged hepatitis (HP:0200122)

Term ID:

200122

Name:

Atypical or prolonged hepatitis

Synonym:

Atypical or prolonged liver inflammation

Definition:

Comments:

Reference:

HP:0200122

Genes and Diseases:

Child Nodes:

Sister Nodes:

Acute hepatitis (HP:0200119)

Chronic hepatitis (HP:0200123)

Fulminant hepatitis (HP:0004787)

Giant cell hepatitis (HP:0200084)

Viral hepatitis (HP:0006562)

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:0200122	HP:0200122	Atypical or prolonged hepatitis	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease	.	315

Genes (1) :ATP7B

Diseases (1) :OMIM:277900

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