Term Name: | familial erythrocytosis 4 |
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Synonyms: | 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. |
Ontology: | Human Disease [DOID:0080339] ( DOID:0080339 ) |