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
..Acute hepatitis (HP:0200119)

Term ID:

200119

Name:

Acute hepatitis

Synonym:

Acute liver inflammation

Definition:

Acute hepatic injury resulting from inflammation typically accompanied by increased serum alanine transaminase activity. Etiologies include viral hepatitis, drugs, toxins, and autoimmune disorders.

Comments:

Reference:

HP:0200119

Genes and Diseases:

Child Nodes:

Sister Nodes:

Atypical or prolonged hepatitis (HP:0200122)

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:0200119	HP:0200119	Acute hepatitis	0	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease	HP:0040281 - Very frequent	315
HP:0200119	HP:0200119	Acute hepatitis	0	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome	.	88

Genes (2) :ATP7B SLC25A15

Diseases (2) :ORPHA:905 OMIM:238970

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

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