glycogen storage disease type XII
GPTKB entity
Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
glycogen storage disease
metabolic disorder |
| gptkbp:affects |
glycogen metabolism
|
| gptkbp:alsoKnownAs |
Aldolase A deficiency
GSD XII |
| gptkbp:enzymeDeficiency |
gptkb:aldolase_A
|
| gptkbp:firstDescribed |
1973
|
| gptkbp:hasOrphanetID |
ORPHA:363
|
| https://www.w3.org/2000/01/rdf-schema#label |
glycogen storage disease type XII
|
| gptkbp:ICD-10_code |
E74.0
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
ALDOA gene
|
| gptkbp:OMIM |
611881
|
| gptkbp:symptom |
gptkb:anemia
exercise intolerance muscular dystrophy |
| gptkbp:bfsParent |
gptkb:PRKAB2
|
| gptkbp:bfsLayer |
7
|