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DO Term : progressive familial intrahepatic cholestasis 1 [DOID:0070226] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21.

synonyms:
GARD:9802,
211600,
PFIC1,
FIC1 deficiency,
ORDO:79306,
OMIM:211600,
MESH:C535933

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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