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Metadata
ID DOID:11721
Name glycogen storage disease VII
Definition A glycogen storage disease that is characterized by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis and that has_material_basis_in homozygous or compound heterozygous mutation in the PFKM gene, which encodes muscle phosphofructokinase, on chromosome 12q13.
https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-vii/
Xrefs

ICD10CM:E74.09

MESH:D006014

NCI:C118437

OMIM:232800

SNOMEDCT_US_2023_03_01:89597008

UMLS_CUI:C0017926

Subsets

NCIthesaurus

Synonyms

Glycogen storage disease 7 [EXACT]

glycogen storage disease type VII [EXACT]

Glycogen storage disease, type VII [EXACT]

Muscle phosphofructokinase deficiency [EXACT]

phosphofructokinase myopathy [EXACT]

Parent Relationships

is_a glycogen storage disease

is_a autosomal recessive disease

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