Glycogen Storage Disease Type Vii
Disease ID: disease_node_3532
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| Dbxref | ICD10CM:E74.09, MESH:D006014, MIM:232800, NCI:C118437, SNOMEDCT_US_2023_03_01:89597008, UMLS_CUI:C0017926 |
|---|---|
| Subclassof | DOID_2747, DOID_0050737 |
| Data Source | DOID, MESH |
| Synonyms | Glycogen storage disease 7, Glycogen storage disease, type VII, Muscle phosphofructokinase deficiency, glycogen storage disease type VII, phosphofructokinase myopathy |
| Mesh Id | D006014 |
| Mesh Label | Glycogen Storage Disease Type VII |
| Mesh Subclassof | D006008, D009136 |
| Doid Label | glycogen storage disease VII |
| Doid Description | 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. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_3532 |
| Doid Id | DOID_11721 |
| Label | Glycogen Storage Disease Type Vii |
- Outgoing r'ship
SUBCLASS_OFto/from Glycogen Storage Disease(ID:disease_node_3514) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)