Disease association ontology term - MONDO:0017694 - glycogen storage disease due to acid maltase deficiency, infantile onset
Term summary
- ID
- MONDO:0017694
- Name
- glycogen storage disease due to acid maltase deficiency, infantile onset
- Ontology or CV name
- Disease association
- Definition
- Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal.
