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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

GARD:2520

ICD10CM:E74.09

MESH:D006011

NCI:C84737

OMIM:232500

SNOMEDCT_US_2023_03_01:11179002

UMLS_CUI:C0017923

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

is_a glycogen storage disease

is_a autosomal recessive disease

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