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Metadata
ID DOID:2746
Name glycogen storage disease V
Definition A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13.
https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-v/
Xrefs

GARD:6528

ICD10CM:E74.04

MESH:D006012

NCI:C84738

OMIM:232600

ORDO:368

SNOMEDCT_US_2023_03_01:55912009

UMLS_CUI:C0017924

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

Glycogen storage disease 5 [EXACT]

glycogen storage disease type V [EXACT]

Glycogen storage disease, type V [EXACT]

McArdle's disease [EXACT]

myophosphorylase deficiency [EXACT]

Parent Relationships

is_a glycogen storage disease

is_a autosomal recessive disease

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