Visualize Submit Comment
Metadata
ID DOID:0070223
Name progressive familial intrahepatic cholestasis 3
Definition 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.
https://www.ncbi.nlm.nih.gov/pubmed/9419367
Xrefs

GARD:1289

MESH:C535935

OMIM:602347

ORDO:79305

SNOMEDCT_US_2023_03_01:1186865008

UMLS_CUI:C1865643

Subsets

DO_rare_slim

Synonyms

MDR3 deficiency [EXACT]

PFIC3 [EXACT]

progressive familial intrahepatic cholestasis with elevated serum gama-glutamyltransferase [EXACT]

Parent Relationships

is_a progressive familial intrahepatic cholestasis

is_a autosomal recessive disease

Add an item to the term tracker