Term Name: | progressive familial intrahepatic cholestasis 1 |
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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 ) |