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:
Hepatitis (HP:0012115)

Parent Node:
Chronic hepatitis (HP:0200123)

..Starting node
..Chronic active hepatitis (HP:0200120)

Term ID:

200120

Name:

Chronic active hepatitis

Synonym:

Hepatitis, chronic active

Definition:

Chronic hepatitis associated with recurrent clinical exacerbations, extrahepatic manifestations, and progression to cirrhosis.

Comments:

Reference:

HP:0200120

Genes and Diseases:

Child Nodes:

Sister Nodes:

Chronic hepatitis due to cryptosporidium infection (HP:0200124)

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:0200120	HP:0200120	Chronic active hepatitis	0	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:0200120	HP:0200120	Chronic active hepatitis	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.	404
HP:0200120	HP:0200120	Chronic active hepatitis	0	C4B CL E G H	721	1324	OMIM:614379	Complement component 4B deficiency	.	1

Genes (3) :AIRE ALMS1 C4B

Diseases (3) :OMIM:240300 OMIM:203800 OMIM:614379

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