| Metadata | |
|---|---|
| ID | DOID:0061271 |
| PURL | http://purl.obolibrary.org/obo/DOID_0061271 Copy |
| Name | liver glycogen storage disease |
| Definition | A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the GYS2 gene which encodes glycogen synthase-2, on chromosome 12p12. https://pubmed.ncbi.nlm.nih.gov/21032403/ |
| Xrefs | |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |