Overhydrated Hereditary Stomatocytosis
Disease ID: disease_node_15317
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| Dbxref | GARD:4183, MIM:185000, ORDO:3203 |
|---|---|
| Subclassof | DOID_0050736, DOID_2361 |
| Data Source | DOID |
| Synonyms | OHS, potassium sodium disorder of erythrocyte, stomatocytosisIOHST |
| Doid Label | overhydrated hereditary stomatocytosis |
| Doid Description | A macrocytic anemia characterized by macrocytic hemolytic anemia and monovalent cation leak from red blood cells that has_material_basis_in heterozygous mutation in the RHAG gene on chromosome 6p12.3. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_15317 |
| Doid Id | DOID_0111562 |
| Label | Overhydrated Hereditary Stomatocytosis |
- Outgoing r'ship
SUBCLASS_OFto/from Anemia, Macrocytic(ID:disease_node_1192) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)