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Metadata
ID	DOID:0070225
Name	progressive familial intrahepatic cholestasis 5
Definition	A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intralobular cholestasis with onset in the neonatal period that has_material_basis_in mutation in the NR1H4 gene on chromosome 12q. https://www.ncbi.nlm.nih.gov/pubmed/26888176
Xrefs	OMIM:617049 ORDO:480476
Subsets	DO_rare_slim
Synonyms	NR1H4 deficiency [EXACT] PFIC5 [EXACT]
Parent Relationships	is_a progressive familial intrahepatic cholestasis is_a autosomal recessive disease