| Term Name: | glycogen storage disease XII |
|---|---|
| Synonyms: | aldolase A deficiency |
| Definition: | A glycogen storage disease that has_material_basis_in homozygous mutation in the ALDOA gene which encodes fructose-1,6-bisphosphate aldolase A, on chromosome 16p11. |
| Ontology: | Human Disease [DOID:0061287] ( DOID:0061287 ) |