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DO Term : familial erythrocytosis 1 [DOID:0060652] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A primary polycythemia that has_material_basis_in mutation in the gene encoding the erythropoietin receptor. It is characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low serum levels of EPO.

synonyms:
133100,
primary familial and congenital polycythemia,
OMIM:133100,
ECYT1,
ORDO:90042,
ICD10CM:D75.0,
autosomal dominant benign erythrocytosis

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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