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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 MIM: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