Medical Subject Headings

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/MESH/C535935 http://purl.bioontology.org/ontology/MESH/C535935
Preferred Name	Cholestasis, progressive familial intrahepatic 3
Synonyms	Progressive Familial Intrahepatic Cholestasis 3 (PFIC3) Abcb4-Related Intrahepatic Cholestasis Progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase Cholestasis, Progressive Familial Intrahepatic, 3 Low gamma-GT Familial Intrahepatic Cholestasis Progressive Familial Intrahepatic Cholestasis 3 (PFIC 3) Cholestasis, Progressive Familial Intrahepatic, with Elevated Serum Gamma-Glutamyltransferase MDR3 Deficiency PFIC3 Progressive familial intrahepatic cholestasis type 3
Type	http://www.w3.org/2002/07/owl#Class

altLabel	Progressive Familial Intrahepatic Cholestasis 3 (PFIC3) Abcb4-Related Intrahepatic Cholestasis Progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase Cholestasis, Progressive Familial Intrahepatic, 3 Low gamma-GT Familial Intrahepatic Cholestasis Progressive Familial Intrahepatic Cholestasis 3 (PFIC 3) Cholestasis, Progressive Familial Intrahepatic, with Elevated Serum Gamma-Glutamyltransferase MDR3 Deficiency PFIC3 Progressive familial intrahepatic cholestasis type 3 See more See less
prefLabel	Cholestasis, progressive familial intrahepatic 3
Scope Statement	A hereditary autsomal recessive form of intrahepatic cholestasis characterized by childhood onset of CHOLESTASIS that progresses to hepatic FIBROSIS, cirrhosis, and END-STAGE LIVER DISEASE before adulthood. Mutations in the ABCB4 gene have been identified. OMIM: 602347
type	http://www.w3.org/2002/07/owl#Class
tui	T047
Has mapping qualifier	http://purl.bioontology.org/ontology/MESH/Q000172
HM	D002780 D018435/Q000172
SC	3
TERMUI	T844671 T000961199 T826401 T828109 T808735 T828108 T828114 T737716 T737719 T842329 See more See less
TH	OMIM (2013) NLM (2019) NLM (2013) GHR (2014) ORD (2010)
MMR	20190618
notation	C535935
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
cui	C1865643
MeSH Frequency	62
DSC	20100825
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D018435 http://purl.bioontology.org/ontology/MESH/D002780
MDA	20100825

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