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DO Term : glycogen storage disease IV [DOID:2750] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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.

synonyms:
UMLS_CUI:C0017923,
OMIM:232500,
Glycogen storage disease, type IV,
Branching-transferase deficiency glycogenosis,
GARD:2520,
MESH:D006011,
Amylopectinosis,
NCI:C84737,
deficiency of 1,4-alpha-glucan branching enzyme,
232500,
Glycogen storage disease 4,
SNOMEDCT_US_2023_03_01:11179002,
ICD10CM:E74.09,
brancher deficiency glycogenosis

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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