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:
Ontology: Human Disease   (DOID:0070226)
OTHER progressive familial intrahepatic cholestasis 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ATP8B1 Cholestasis, progressive familial intrahepatic 1 211600
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None