ZFIN Human Disease: progressive familial intrahepatic cholestasis 2

OBO ID: DOID:0070222

Term Name:	progressive familial intrahepatic cholestasis 2		Search Ontology:
Synonyms:	BSEP deficiency PFIC2
Definition:	A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31. https://www.ncbi.nlm.nih.gov/pubmed/9806540
References:	GARD:1288 MESH:C535934 OMIM:601847 ORDO:79304 SNOMEDCT_US_2023_03_01:1155841005 UMLS_CUI:C3489789
Ontology:	Human Disease ( DOID:0070222 )

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 2 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ABCB11	abcb11a abcb11b	Cholestasis, progressive familial intrahepatic 2	601847

ZEBRAFISH MODELS

Fish	Conditions	Citations
abcb11b^ci200/ci200	standard conditions	Ellis et al., 2017

PHENOTYPE No data available

CITATIONS (1)