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:
Ontology: Human Disease   (DOID:0070225)
OTHER progressive familial intrahepatic cholestasis 5 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NR1H4 Cholestasis, progressive familial intrahepatic, 5 617049
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None