| Metadata | |
|---|---|
| ID | DOID:2746 |
| Name | glycogen storage disease V |
| Definition | A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13. https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-v/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:55912009 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Glycogen storage disease 5 [EXACT] glycogen storage disease type V [EXACT] Glycogen storage disease, type V [EXACT] McArdle's disease [EXACT] myophosphorylase deficiency [EXACT] |
| Parent Relationships |