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progressive familial intrahepatic cholestasis 1
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease progressive familial intrahepatic cholestasis
External Links
- Disease Ontology
- DOID:0070226
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- GARD
- WikiPathways (from TogoID)
