WormBase Tree Display for DO_term: DOID:11721
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| DOID:11721 | Name | glycogen storage disease VII | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A glycogen storage disease that is characterized by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis and that has_material_basis_in homozygous or compound heterozygous mutation in the PFKM gene, which encodes muscle phosphofructokinase, on chromosome 12q13. | ||||
| Comment | OMIM mapping confirmed by DO. | ||||
| Synonym | Exact | Glycogen storage disease 7 | |||
| Glycogen storage disease, type VII | |||||
| Muscle phosphofructokinase deficiency | |||||
| glycogen storage disease type VII | |||||
| phosphofructokinase myopathy | |||||
| Parent | Is_a | DOID:2747 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 232800 | |
| Attribute_of | Gene_by_orthology | WBGene00008230 | |||
| WBGene00022199 |
