Familial Erythrocytosis 1
Disease ID: disease_node_15334
Connections displayed (default: 10).
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| Dbxref | ICD10CM:D75.0, MIM:133100, ORDO:90042 |
|---|---|
| Subclassof | DOID_0050736, DOID_10780 |
| Data Source | DOID |
| Synonyms | ECYT1, autosomal dominant benign erythrocytosis, primary familial and congenital polycythemia |
| Doid Label | familial erythrocytosis 1 |
| Doid 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. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_15334 |
| Doid Id | DOID_0060652 |
| Label | Familial Erythrocytosis 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Primary Polycythemia(ID:disease_node_15327) (Disease)