| Metadata | |
|---|---|
| ID | DOID:0111933 |
| Name | phosphoglycerate kinase 1 deficiency |
| Definition | A glucose metabolism disease characterized by impaired ability to break down glucose resulting in the variable presentation of hemolytic anemia, myopathy, and neurologic anomalies that has_material_basis_in hemizygous or homozygous mutation in the PGK1 gene on chromosome Xq21.1. https://ghr.nlm.nih.gov/condition/phosphoglycerate-kinase-deficiency, https://pubmed.ncbi.nlm.nih.gov/16567715/, https://pubmed.ncbi.nlm.nih.gov/4230542/ |
| Xrefs | |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
glycogen storage disease due to phosphoglycerate kinase 1 deficiency [EXACT] glycogenosis due to phosphoglycerate kinase 1 deficiency [EXACT] GSD due to phosphoglycerate kinase 1 deficiency [EXACT] PGK1 deficiency [EXACT] |
| Parent Relationships |