progressive familial intrahepatic cholestasis 1 Disease Ontology Browser

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Disease Ontology Browser

progressive familial intrahepatic cholestasis 1 (DOID:0070226)
Alliance: disease page
Synonyms: FIC1 deficiency; PFIC1
Alt IDs: OMIM:211600, MESH:C535933, ORDO:79306
Definition: A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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