Congenital Nonspherocytic Hemolytic Anemia 6
Disease ID: disease_node_15259
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| Dbxref | MIM:231900, ORDO:289849 |
|---|---|
| Subclassof | DOID_2861, DOID_0050737, DOID_0080699 |
| Data Source | DOID |
| Synonyms | glutathione synthetase deficiency of erythrocytes, glutathione synthetase deficiency without 5-oxoprolinuria |
| Doid Label | congenital nonspherocytic hemolytic anemia 6 |
| Doid Description | A congenital nonspherocytic hemolytic anemia a mild form of glutathione synthetase deficiency characterized by hemolytic anemia and deficiency in GSH that is limited to the red blood cells, with nucleated cells able to maintain normal or near normal expression levels that has_material_basis_in homozygous or compound heterozygous mutation in GSS on chromosome 20q11.22. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15259 |
| Doid Id | DOID_0112252 |
| Label | Congenital Nonspherocytic Hemolytic Anemia 6 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Anemia, Hemolytic, Congenital Nonspherocytic(ID:disease_node_1189) (Disease)