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Metadata
ID	DOID:0070222
Name	progressive familial intrahepatic cholestasis 2
Definition	A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31. https://www.ncbi.nlm.nih.gov/pubmed/9806540
Xrefs	GARD:1288 MESH:C535934 OMIM:601847 ORDO:79304 SNOMEDCT_US_2023_03_01:1155841005 UMLS_CUI:C3489789
Subsets	DO_rare_slim
Synonyms	BSEP deficiency [EXACT] PFIC2 [EXACT]
Parent Relationships	is_a progressive familial intrahepatic cholestasis is_a autosomal recessive disease