Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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
..Giant cell hepatitis (HP:0200084)

Term ID:

200084

Name:

Giant cell hepatitis

Synonym:

Giant cell hepatitis on biopsy; Giant cell hepatitis on liver biopsy; Giant cell hepatitis shown on biopsy

Definition:

Chronic hepatitis characterized by parenchymal inflammation with formation of large multinucleated hepatocytes in response to a variety of insults to the liver.

Comments:

Reference:

HP:0200084

Genes and Diseases:

Child Nodes:

Sister Nodes:

Acute hepatitis (HP:0200119)

Atypical or prolonged hepatitis (HP:0200122)

Chronic hepatitis (HP:0200123)

Fulminant hepatitis (HP:0004787)

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:0200084	HP:0200084	Giant cell hepatitis	0	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2		62
HP:0200084	HP:0200084	Giant cell hepatitis	0	AMACR CL E G H	23600	451	OMIM:214950	Bile acid synthesis defect, congenital, 4	.	44
HP:0200084	HP:0200084	Giant cell hepatitis	0	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4		44
HP:0200084	HP:0200084	Giant cell hepatitis	0	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1	.	26
HP:0200084	HP:0200084	Giant cell hepatitis	0	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2	.	27
HP:0200084	HP:0200084	Giant cell hepatitis	0	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1	.	63

Genes (5) :AKR1D1 AMACR HSD3B7 VIPAS39 VPS33B

Diseases (6) :ORPHA:79303 OMIM:214950 ORPHA:79095 OMIM:607765 OMIM:613404 OMIM:208085

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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