WormBase Tree Display for DO_term: DOID:2748
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| DOID:2748 | Name | glycogen storage disease III | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21. | ||||
| Comment | OMIM mapping confirmed by DO. | ||||
| Synonym | Exact | Glycogen storage disease 3 | |||
| Glycogen storage disease, type III | |||||
| amylo 1,6 glucosidase deficiency | |||||
| deficiency of debranching enzyme | |||||
| deficiency of dextrin | |||||
| Parent | Is_a | DOID:2747 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 232400 | |
| Attribute_of | Gene_by_orthology | WBGene00011050 |
