Glycogen Storage Disease Xv
Disease ID: disease_node_20397
Connections displayed (default: 10).
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| Dbxref | MIM:613507, ORDO:263297 |
|---|---|
| Subclassof | DOID_2747, DOID_0050737 |
| Data Source | DOID |
| Synonyms | Glycogen storage disease 15, Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency, glycogen storage disease type XV |
| Doid Label | glycogen storage disease XV |
| Doid Description | A glycogen storage disease characterized by muscle weakness and cardiac abnormalities caused and has_material_basis_in mutation in the GYG1 gene that encodes glycogenin-1. |
| Has Symptom | SYMP_0000094 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20397 |
| Doid Id | DOID_0050579 |
| Label | Glycogen Storage Disease Xv |
- Outgoing r'ship
HAS_SYMPTOMto/from Muscle Weakness(ID:disease_node_9835;disease_node_21022) (Disease) - 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)