Statements (40)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
Metabolic disorder
|
| gptkbp:affects |
Glycogen metabolism
|
| gptkbp:affectsOrgan |
Liver
Muscle |
| gptkbp:alsoKnownAs |
gptkb:GSD
|
| gptkbp:cause |
Enzyme deficiency
|
| gptkbp:complication |
cardiomyopathy
Growth retardation Liver failure Renal disease |
| gptkbp:diagnosedBy |
Blood tests
Genetic testing Liver biopsy |
| gptkbp:field |
gptkb:Hepatology
gptkb:Pediatrics Genetics |
| gptkbp:firstDescribed |
1929
|
| https://www.w3.org/2000/01/rdf-schema#label |
Glycogen storage disease
|
| gptkbp:ICD-10_code |
E74.0
|
| gptkbp:inheritance |
Autosomal recessive
|
| gptkbp:MeSH_ID |
D006008
|
| gptkbp:OMIM |
232200
|
| gptkbp:prevalence |
Rare
|
| gptkbp:riskFactor |
Family history
|
| gptkbp:subspecies |
GSD type I
GSD type II GSD type III GSD type IV GSD type IX GSD type V GSD type VI |
| gptkbp:symptom |
Hypoglycemia
Hepatomegaly Muscle weakness |
| gptkbp:treatment |
Cornstarch therapy
Dietary management Liver transplant |
| gptkbp:bfsParent |
gptkb:Glycogen_Storage_Disease_Type_IX
gptkb:Glycogen_Storage_Disease_Type_VI |
| gptkbp:bfsLayer |
7
|