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familial erythrocytosis 4
Summary
- Synonym
-
- ECYT4
- Definition
- A primary polycythemia that has_material_basis_in autosomal dominant inheritance of gain-of-function mutations in the EPAS1 gene on chromosome 2p21.
- Super Class
- primary polycythemia
External Links
- Disease Ontology
- DOID:0080339
- Mondo Disease Ontology
- OMIM
