Search Ontology:
Human Disease

progressive familial intrahepatic cholestasis 2

Term ID
DOID:0070222
Synonyms
  • BSEP deficiency
  • PFIC2
Definition
A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31. https://www.ncbi.nlm.nih.gov/pubmed/9806540
References
Ontology
Human Disease   ( DOID:0070222 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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