ZFIN Human Disease: progressive familial intrahepatic cholestasis 1

OBO ID: DOID:0070226

Term Name:	progressive familial intrahepatic cholestasis 1		Search Ontology:
Synonyms:	FIC1 deficiency PFIC1
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
References:	GARD:9802 MESH:C535933 OMIM:211600 ORDO:79306
Ontology:	Human Disease ( DOID:0070226 )

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 1 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ATP8B1	atp8b1	Cholestasis, progressive familial intrahepatic 1	211600

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None