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Metadata
ID DOID:0111630
Name familial erythrocytosis 8
Definition A primary polycythemia characterized by erythrocytosis and in some cases hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BPGM gene on chromosome 7q33.
https://www.ncbi.nlm.nih.gov/pubmed/2542247
Xrefs

OMIM:222800

ORDO:714

Subsets

DO_rare_slim

Synonyms

bisphosphoglycerate mutase deficiency [EXACT]

bisphosphoglyceromutase deficiency [EXACT]

BPGM deficiency [EXACT]

diphosphoglycerate mutase deficiency of erythrocyte [EXACT]

DPGM deficiency [EXACT]

ECYT8 [EXACT]

hemolytic anemia due to diphosphoglycerate mutase deficiency [EXACT]

Parent Relationships

is_a primary polycythemia

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