ZFIN Human Disease: progressive familial intrahepatic cholestasis 5

OBO ID: DOID:0070225

Term Name:	progressive familial intrahepatic cholestasis 5		Search Ontology:
Synonyms:	NR1H4 deficiency PFIC5
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
References:	OMIM:617049 ORDO:480476
Ontology:	Human Disease ( DOID:0070225 )

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 5 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
NR1H4	nr1h4	Cholestasis, progressive familial intrahepatic, 5	617049

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None