Search Ontology:
Human Disease

progressive familial intrahepatic cholestasis 1

Term ID
DOID:0070226
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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