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progressive familial intrahepatic cholestasis 4
Summary
- Synonym
-
- PFIC4
- TJP2 deficit
- Definition
- A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the TJP2 gene on chromosome 9q21.
- Super Class
- autosomal recessive disease progressive familial intrahepatic cholestasis
External Links
- Disease Ontology
- DOID:0070224
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
