Search Ontology:
Human Disease

progressive familial intrahepatic cholestasis 5

Term ID
DOID:0070225
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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