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Metadata
ID DOID:0080338
Name familial erythrocytosis 3
Definition A primary polycythemia that has_material_basis_in heterozygous mutation in the EGLN1 gene on chromosome 1q42.
https://www.ncbi.nlm.nih.gov/pubmed/16407130
Xrefs

OMIM:609820

Synonyms

ECYT3 [EXACT]

Parent Relationships

is_a primary polycythemia

is_a autosomal dominant disease

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