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:
Ontology: Human Disease   (DOID:0070222)
OTHER progressive familial intrahepatic cholestasis 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ABCB11 Cholestasis, progressive familial intrahepatic 2 601847
ZEBRAFISH MODELS
Fish Conditions Citations
abcb11bci200/ci200 standard conditions Ellis et al., 2017
PHENOTYPE No data available

CITATIONS (1)