ZFIN Human Disease: progressive familial intrahepatic cholestasis 4

OBO ID: DOID:0070224

Term Name:	progressive familial intrahepatic cholestasis 4		Search Ontology:
Synonyms:	PFIC4 TJP2 deficit
Definition:	A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the TJP2 gene on chromosome 9q21. https://www.ncbi.nlm.nih.gov/pubmed/24614073
References:	OMIM:615878 ORDO:480483
Ontology:	Human Disease ( DOID:0070224 )

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 4 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TJP2	tjp2b tjp2a	Cholestasis, progressive familial intrahepatic 4	615878

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None