Term Name: | familial erythrocytosis 5 |
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Synonyms: | ECYT5 |
Definition: | A primary polycythemia characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the EPO gene on chromosome 7q21. |
Ontology: | Human Disease [DOID:0080290] ( DOID:0080290 ) |