| Metadata | |
|---|---|
| ID | DOID:2750 |
| Name | glycogen storage disease IV |
| Definition | 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. https://pubmed.ncbi.nlm.nih.gov/17915577/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:11179002 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Amylopectinosis [EXACT] brancher deficiency glycogenosis [EXACT] Branching-transferase deficiency glycogenosis [EXACT] deficiency of 1,4-alpha-glucan branching enzyme [EXACT] Glycogen storage disease 4 [EXACT] Glycogen storage disease, type IV [EXACT] |
| Parent Relationships |