progressive familial intrahepatic cholestasis 2 Disease Ontology Browser

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Disease Ontology Browser

progressive familial intrahepatic cholestasis 2 (DOID:0070222)
Alliance: disease page
Synonyms: BSEP deficiency; PFIC2
Alt IDs: OMIM:601847, MESH:C535934, ORDO:79304, UMLS_CUI:C3489789
Definition: A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31.

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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