Glycogen Storage Disease Ixd
Disease ID: disease_node_20396
Connections displayed (default: 10).
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| Dbxref | ICD10CM:E74.0, MIM:300559, ORDO:715 |
|---|---|
| Subclassof | DOID_0080012, DOID_0050594 |
| Data Source | DOID |
| Synonyms | GSD IXd, GSD due to muscle phosphorylase kinase deficiency, GSD type 9D, GSD type 9E, GSD type IXd, GSD type IXe, GSD9D, X-linked muscke glycogenosis, glycogen storage disease due to muscle phosphorylase kinase deficiency, glycogen storage disease type 9D, glycogen storage disease type 9E, glycogen storage disease type IXd, glycogen storage disease type IXe, glycogenosis due to muscle phosphorylase kinase deficiency, glycogenosis type 9D, glycogenosis type 9E, glycogenosis type IXd, glycogenosis type IXe, muscle phosphorylase kinase deficiency |
| Doid Label | glycogen storage disease IXd |
| Doid Description | A glycogen storage disease IX that is characterized by X-linked inheritance of variable exercise-induced muscle weakness or stiffness that has_material_basis_in mutation in the PHKA1 gene on chromosome Xq13. |
| Has Symptom | SYMP_0000094 |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_20396 |
| Doid Id | DOID_0111040 |
| Label | Glycogen Storage Disease Ixd |
- Outgoing r'ship
HAS_SYMPTOMto/from Muscle Weakness(ID:disease_node_9835;disease_node_21022) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Glycogen Storage Disease Ix(ID:disease_node_20394) (Disease)