Disease

familial erythrocytosis 4

Name: familial erythrocytosis 4
Creator: Alliance of Genome Resources
License: CC BY 4.0
Keywords: disease DOID:0080339 familial erythrocytosis 4 A primary polycythemia that has_material_basis_in autosomal dominant inheritance of gain-of-function mutations in the EPAS1 gene on chromosome 2p21. ECYT4

Definition

A primary polycythemia that has_material_basis_in autosomal dominant inheritance of gain-of-function mutations in the EPAS1 gene on chromosome 2p21.

Synonyms

ECYT4

Cross References

MIM:611783

Parent Terms

primary polycythemia

Child Terms

None

Sources of Associations

RGD
MGI
ZFIN
FB
WB
SGD

Associated Genes

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Associated Alleles

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Associated Models

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