Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
glycogen storage disease
inborn error of metabolism |
| gptkbp:affects |
gptkb:skeletal_muscle
liver |
| gptkbp:alsoKnownAs |
gptkb:Forbes_disease
Glycogen storage disease type III |
| gptkbp:category |
metabolic disorder
|
| gptkbp:causedBy |
mutation in AGL gene
|
| gptkbp:complication |
liver cirrhosis
cardiomyopathy |
| gptkbp:enzymeDeficiency |
glycogen debranching enzyme
|
| gptkbp:firstDescribed |
gptkb:Gerty_Cori
gptkb:Carl_Cori 1952 |
| https://www.w3.org/2000/01/rdf-schema#label |
Cori disease
|
| gptkbp:ICD-10_code |
E74.0
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
232400
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
gptkb:hypoglycemia
muscle weakness hepatomegaly growth retardation |
| gptkbp:treatment |
high-protein diet
frequent meals |
| gptkbp:bfsParent |
gptkb:glycogen_storage_diseases
gptkb:Glycogen_Storage_Disease_Type_III |
| gptkbp:bfsLayer |
7
|