Progressive Familial Intrahepatic Cholestasis Type 3

Preferred Label : Progressive Familial Intrahepatic Cholestasis Type 3;

NCIt synonyms : PFIC3;

NCIt definition : An autosomal recessive subtype of progressive familial intrahepatic cholestasis caused by mutation(s) in the ABCB4 gene, encoding phosphatidylcholine translocator ABCB4.;

Details

Origin ID

C217090;

concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_mapped_to_gene
- ABCB4 Gene [NCIt concept]

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