Term Name: progressive familial intrahepatic cholestasis 1
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.
Ontology: Human Disease [DOID:0070226]   ( DOID:0070226 )

Relationships
is a type of: autosomal recessive disease progressive familial intrahepatic cholestasis