| Concept UI |
CON00103 (Tree)
|
| Name |
Pompe disease
|
| Aliases |
GSD type II
Lysosomal alpha 1,4 Glucosidase Deficiency Disease
|
| Disease name: Preferred Term |
GLYCOGEN STORAGE DISEASE II
|
| Disease name: Synonyms (from OMIM and MeSH) |
ALPHA-1,4-GLUCOSIDASE DEFICIENCY
GLYCOGENOSIS, GENERALIZED, CARDIAC FORM
GSD2
ACID ALPHA-GLUCOSIDASE DEFICIENCY
CARDIOMEGALIA GLYCOGENICA DIFFUSA
POMPE DISEASE
AMD
GSD II
ACID MALTASE DEFICIENCY
GAA DEFICIENCY
|
| UMLS CUI |
C0017921
|
| UMLS SAB |
MeSH
|
| UMLS CODE |
D006009
|
| OMIM DATA: Gene |
GAA
|
| OMIM DATA: Gene Number |
606800
|
| OMIM DATA: Phenotype Number |
232300
|
|
Symptoms, signs and abnormal clinical and laboratory findings
|
- Cardiomegaly
- Cardiovascular Abnormalities
- Cardiovascular Diseases
- Dyspnea
- Feeding and Eating Disorders of Childhood
- Growth Disorders
- Heart Defects, Congenital
- Heart Diseases
- Heart Failure (Cardiac Failure)
- Hepatomegaly
- Liver Diseases
- Lung Diseases
- Macroglossia
- Mental Disorders Diagnosed in Childhood
- Mobility Limitation
- Muscle Hypotonia
- Muscle Weakness
- Muscular Diseases
- Neuromuscular Manifestations
- Pathologic Processes
- Respiration Disorders
- Respiratory Insufficiency
- Respiratory Tract Diseases
- Respiratory Tract Infections
- Signs and Symptoms
- Tongue Diseases
|
GDGDB (ID)
Link to the Glyco-Disease Genes Database |
74
|