| Metadata | |
|---|---|
| ID | DOID:0112252 |
| Name | glutathione synthetase deficiency of erythrocytes |
| Definition | A 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. https://pubmed.ncbi.nlm.nih.gov/5476481/, https://pubmed.ncbi.nlm.nih.gov/659603/, https://pubmed.ncbi.nlm.nih.gov/8896573/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
glutathione synthetase deficiency without 5-oxoprolinuria [EXACT] |
| Parent Relationships |