| Metadata | |
|---|---|
| ID | DOID:11721 |
| Name | glycogen storage disease VII |
| Definition | A glycogen storage disease that is characterized by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis and that has_material_basis_in homozygous or compound heterozygous mutation in the PFKM gene, which encodes muscle phosphofructokinase, on chromosome 12q13. https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-vii/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:89597008 |
| Subsets |
NCIthesaurus |
| Synonyms |
Glycogen storage disease 7 [EXACT] glycogen storage disease type VII [EXACT] Glycogen storage disease, type VII [EXACT] Muscle phosphofructokinase deficiency [EXACT] phosphofructokinase myopathy [EXACT] |
| Parent Relationships |