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:
Ontology: Human Disease   (DOID:0070224)
OTHER progressive familial intrahepatic cholestasis 4 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TJP2 Cholestasis, progressive familial intrahepatic 4 615878
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None