Search Ontology:
Human Disease
glycogen storage disease IV
- Term ID
- DOID:2750
- Synonyms
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- Amylopectinosis
- brancher deficiency glycogenosis
- Branching-transferase deficiency glycogenosis
- deficiency of 1,4-alpha-glucan branching enzyme
- Glycogen storage disease 4
- Glycogen storage disease, type 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/
- References
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- GARD:2520
- ICD10CM:E74.09
- MESH:D006011
- MIM:232500
- NCI:C84737
- SNOMEDCT_US_2023_03_01:11179002
- UMLS_CUI:C0017923
- Ontology
- Human Disease ( DOID:2750 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models