Glycogen Storage Disease Ixa
Disease ID: disease_node_20395
Connections displayed (default: 10).
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| Dbxref | ICD10CM:E74.0, MIM:306000 |
|---|---|
| Subclassof | DOID_0080012, DOID_0050594 |
| Data Source | DOID |
| Synonyms | GSD type 9A, GSD type IXa, GSD9A, glycogen storage disease type 9A, glycogen storage disease type IXa, glycogenosis type 9A, glycogenosis type IXa |
| Doid Label | glycogen storage disease IXa |
| Doid Description | A glycogen storage disease IX characterized by hepatomegaly, growth retardation, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis, but symptoms gradually disappear with age, that has_material_basis_in X-linked inheritance of mutation in the PHKA2 gene on chromosome Xp22. |
| Has Symptom | SYMP_0000470, SYMP_0000460 |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_20395 |
| Doid Id | DOID_0111042 |
| Label | Glycogen Storage Disease Ixa |
- Outgoing r'ship
HAS_SYMPTOMto/from Hepatomegaly(ID:disease_node_3929;disease_node_20958) (Disease) - Outgoing r'ship
HAS_SYMPTOMto/from Left Upper Quadrant Abdominal Rigidity(ID:disease_node_21557) (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)