Glycogen Storage Disease Type Iv
Disease ID: disease_node_3526
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| Dbxref | GARD:2520, ICD10CM:E74.09, MESH:D006011, MIM:232500, NCI:C84737, SNOMEDCT_US_2023_03_01:11179002, UMLS_CUI:C0017923 |
|---|---|
| Subclassof | DOID_2747, DOID_0050737 |
| Data Source | DOID, MESH |
| Synonyms | Amylopectinosis, Branching-transferase deficiency glycogenosis, Glycogen storage disease 4, Glycogen storage disease, type IV, brancher deficiency glycogenosis, deficiency of 1,4-alpha-glucan branching enzyme |
| Mesh Id | D006011 |
| Mesh Label | Glycogen Storage Disease Type IV |
| Mesh Subclassof | D006008 |
| Doid Label | glycogen storage disease IV |
| Doid Description | A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the GBE1 gene, which encodes the glycogen branching enzyme, on chromosome 3p12. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_3526 |
| Doid Id | DOID_2750 |
| Label | Glycogen Storage Disease Type Iv |
- 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)