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familial erythrocytosis 2
Summary
- Synonym
-
- Chuvash erythromatosis
- Chuvash polycythemia
- Chuvash type polycythemia
- ECYT2
- autosomal recessive benign erythrocytosis
- Definition
- A primary polycythemia that has_material_basis_in homozygous or compound heterozygous mutation in the VHL gene (608537) on chromosome 3p25.
- Super Class
- autosomal recessive disease primary polycythemia
External Links
- Disease Ontology
- DOID:0060474
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 48 | ACO1 | aconitase 1 | |
| 669 | BPGM | bisphosphoglycerate mutase | |
| 1727 | CYB5R3 | cytochrome b5 reductase 3 | |
| 2271 | FH | fumarate hydratase | |
| 2523 | FUT1 | fucosyltransferase 1 (H blood group) | |
| 2539 | G6PD | glucose-6-phosphate dehydrogenase | |
| 3251 | HPRT1 | hypoxanthine phosphoribosyltransferase 1 | |
| 5313 | PKLR | pyruvate kinase L/R | |
| 23583 | SMUG1 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | |
| 57126 | CD177 | CD177 molecule |
Related Glycoprotein
