Familial Erythrocytosis 2
Disease ID: disease_node_15335
Connections displayed (default: 10).
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| Dbxref | ICD10CM:D75.1, MIM:263400, ORDO:238557 |
|---|---|
| Subclassof | DOID_0050737, DOID_10780 |
| Data Source | DOID |
| Synonyms | Chuvash erythromatosis, Chuvash polycythemia, Chuvash type polycythemia, ECYT2, autosomal recessive benign erythrocytosis |
| Doid Label | familial erythrocytosis 2 |
| Doid Description | A primary polycythemia that has_material_basis_in homozygous or compound heterozygous mutation in the VHL gene (608537) on chromosome 3p25. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15335 |
| Doid Id | DOID_0060474 |
| Label | Familial Erythrocytosis 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Primary Polycythemia(ID:disease_node_15327) (Disease)