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Metadata
ID DOID:0070226
Name progressive familial intrahepatic cholestasis 1
Definition A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21.
https://www.ncbi.nlm.nih.gov/pubmed/9500542
Xrefs

GARD:9802

MESH:C535933

OMIM:211600

ORDO:79306

Subsets

DO_rare_slim

Synonyms

FIC1 deficiency [EXACT]

PFIC1 [EXACT]

Parent Relationships

is_a progressive familial intrahepatic cholestasis

is_a autosomal recessive disease

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