FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term glycogen storage disease IV ID (Ontology) DOID:2750 (Human Disease)
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.
Also Known As "Amylopectinosis" ; "brancher deficiency glycogenosis" ; "Branching-transferase deficiency glycogenosis" (for all, see Synonyms field below)
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
    Results list data from multiple species. Click on a button above and use the 'Filter by species' options on the resulting HitList to retrieve species-specific data.
Records annotated with this exact term (annotations to child terms are NOT included)
No relevant records available
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Genes
 glycogen storage disease IV       1
 for disease ribbon | glycogen storage disease IV       1
 model of | glycogen storage disease IV       1
Spanning Tree (Parents/Children)
Only view relationship: 
glycogen metabolism disorder
 |__glycogen storage disease_____
autosomal genetic disease        |
 |__autosomal recessive disease__|
                                 glycogen storage disease IV  1 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a autosomal recessive disease
glycogen storage disease
Part of
hide Synonyms & Secondary IDs
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
Secondary IDs
hide External Crossreferences & Linkouts
GARD:2520
ICD10CM:E74.09
MESH:D006011
MIM:232500
NCI:C84737
SNOMEDCT_US_2023_03_01:11179002
UMLS_CUI:C0017923