| Metadata | |
|---|---|
| ID | DOID:0050579 |
| Name | glycogen storage disease XV |
| Definition | A glycogen storage disease characterized by muscle weakness and cardiac abnormalities caused and has_material_basis_in mutation in the GYG1 gene that encodes glycogenin-1. https://www.omim.org/entry/613507 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Glycogen storage disease 15 [EXACT] glycogen storage disease type XV [EXACT] Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance has symptom some muscle weakness |