Search Ontology:
Human Disease

progressive familial intrahepatic cholestasis 4

Term ID
DOID:0070224
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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