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Metadata
ID DOID:0080290
Name familial erythrocytosis 5
Definition A primary polycythemia characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the EPO gene on chromosome 7q21.
https://www.ncbi.nlm.nih.gov/pubmed/29514032
Xrefs

OMIM:617907

Synonyms

ECYT5 [EXACT]

Parent Relationships

is_a primary polycythemia

is_a autosomal dominant disease

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