ZFIN Human Disease: progressive familial intrahepatic cholestasis 3

OBO ID: DOID:0070223

Term Name:	progressive familial intrahepatic cholestasis 3		Search Ontology:
Synonyms:	MDR3 deficiency PFIC3 progressive familial intrahepatic cholestasis with elevated serum gama-glutamyltransferase
Definition:	A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intrahepatic cholestasis and elevated serum GGT1 activity that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21.12. https://www.ncbi.nlm.nih.gov/pubmed/9419367
References:	GARD:1289 MESH:C535935 OMIM:602347 ORDO:79305 SNOMEDCT_US_2023_03_01:1186865008 UMLS_CUI:C1865643
Ontology:	Human Disease ( DOID:0070223 )

Relationships

is a type of:	autosomal recessive disease progressive familial intrahepatic cholestasis autosomal recessive disease progressive familial intrahepatic cholestasis Show first 5 Terms

OTHER progressive familial intrahepatic cholestasis 3 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ABCB1	abcb4	Cholestasis, progressive familial intrahepatic 3	602347
ABCB4	abcb4	Cholestasis, progressive familial intrahepatic 3	602347

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None