| Metadata | |
|---|---|
| ID | DOID:0061288 |
| PURL | http://purl.obolibrary.org/obo/DOID_0061288 Copy |
| Name | glycogen storage disease XIII |
| Definition | A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the ENO3 gene, which encodes beta-enolase, on chromosome 17p13. https://pubmed.ncbi.nlm.nih.gov/31741825/ |
| Xrefs | |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |