Glycogen Storage Disease Type V
Disease ID: disease_node_3528
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| Dbxref | GARD:6528, ICD10CM:E74.04, MESH:D006012, MIM:232600, NCI:C84738, ORDO:368, SNOMEDCT_US_2023_03_01:55912009, UMLS_CUI:C0017924 |
|---|---|
| Subclassof | DOID_2747, DOID_0050737 |
| Data Source | DOID, MESH |
| Synonyms | Glycogen storage disease 5, Glycogen storage disease, type V, McArdle's disease, glycogen storage disease type V, myophosphorylase deficiency |
| Mesh Id | D006012 |
| Mesh Label | Glycogen Storage Disease Type V |
| Mesh Subclassof | D006008 |
| Doid Label | glycogen storage disease V |
| Doid Description | 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. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_3528 |
| Doid Id | DOID_2746 |
| Label | Glycogen Storage Disease Type V |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Glycogen Storage Disease(ID:disease_node_3514) (Disease)