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DO Term : progressive familial intrahepatic cholestasis 3 [DOID:0070223] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intrahepatic cholestasis and elevated serum GGT1 activity that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21.12.

synonyms:
GARD:1289,
UMLS_CUI:C1865643,
PFIC3,
MDR3 deficiency,
MESH:C535935,
602347,
ORDO:79305,
progressive familial intrahepatic cholestasis with elevated serum gama-glutamyltransferase,
OMIM:602347,
SNOMEDCT_US_2023_03_01:1186865008

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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