| Metadata | |
|---|---|
| ID | DOID:0061287 |
| PURL | http://purl.obolibrary.org/obo/DOID_0061287 Copy |
| Name | glycogen storage disease XII |
| 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. https://pubmed.ncbi.nlm.nih.gov/2825199/ |
| Xrefs | |
| Synonyms |
aldolase A deficiency [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |