Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
lysosomal glycogen metabolism
|
| gptkbp:alsoKnownAs |
gptkb:Pompe_disease
|
| gptkbp:cause |
glycogen accumulation
|
| gptkbp:causedBy |
mutation in GAA gene
|
| gptkbp:firstDescribed |
gptkb:Johannes_C._Pompe
1932 |
| https://www.w3.org/2000/01/rdf-schema#label |
acid maltase deficiency
|
| gptkbp:ICD-10_code |
E74.0
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
232300
|
| gptkbp:onset |
infantile
late-onset |
| gptkbp:symptom |
muscle weakness
cardiomegaly respiratory difficulties |
| gptkbp:treatment |
enzyme replacement therapy
|
| gptkbp:bfsParent |
gptkb:Pompe_disease
|
| gptkbp:bfsLayer |
7
|