Search Ontology:
Human Disease

glycogen storage disease IV

Term ID
DOID:2750
Synonyms
  • 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
(all 6)
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
  • GARD:2520
  • ICD10CM:E74.09
  • MESH:D006011
  • MIM:232500
  • NCI:C84737
  • SNOMEDCT_US_2023_03_01:11179002
  • UMLS_CUI:C0017923
(all 7)
Ontology
Human Disease   ( DOID:2750 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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