Glycogen Storage Disease Type Iii
Disease ID: disease_node_3524
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| Dbxref | ICD10CM:E74.03, MESH:D006010, MIM:232400, NCI:C84736, SNOMEDCT_US_2023_03_01:66937008, UMLS_CUI:C0017922 |
|---|---|
| Subclassof | DOID_2747, DOID_0050737 |
| Data Source | DOID, MESH |
| Synonyms | Glycogen storage disease 3, Glycogen storage disease, type III, amylo 1,6 glucosidase deficiency, deficiency of debranching enzyme, deficiency of dextrin |
| Mesh Id | D006010 |
| Mesh Label | Glycogen Storage Disease Type III |
| Mesh Subclassof | D006008 |
| Doid Label | glycogen storage disease III |
| Doid Description | 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. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_3524 |
| Doid Id | DOID_2748 |
| Label | Glycogen Storage Disease Type Iii |
- Outgoing r'ship
SUBCLASS_OFto/from Glycogen Storage Disease(ID:disease_node_3514) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)