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Metadata
ID DOID:0080339
Name familial erythrocytosis 4
Definition A primary polycythemia that has_material_basis_in autosomal dominant inheritance of gain-of-function mutations in the EPAS1 gene on chromosome 2p21.
https://www.ncbi.nlm.nih.gov/pubmed/18184961
Xrefs

OMIM:611783

Synonyms

ECYT4 [EXACT]

Parent Relationships

is_a primary polycythemia

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