Term Name: glycogen storage disease IV
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
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.
Ontology: Human Disease [DOID:2750]   ( DOID:2750 )

Relationships
is a type of: autosomal recessive disease glycogen storage disease