ZFIN Human Disease: glycogen storage disease VII

OBO ID: DOID:11721

Term Name:	glycogen storage disease VII		Search Ontology:
Synonyms:	Glycogen storage disease 7 glycogen storage disease type VII Glycogen storage disease, type VII Muscle phosphofructokinase deficiency phosphofructokinase myopathy
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/
References:	ICD10CM:E74.09 MESH:D006014 MIM:232800 NCI:C118437 SNOMEDCT_US_2023_03_01:89597008 UMLS_CUI:C0017926
Ontology:	Human Disease ( DOID:11721 )

Relationships

is a type of:	autosomal recessive disease glycogen storage disease autosomal recessive disease glycogen storage disease Show first 5 Terms

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GENES INVOLVED No data available

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None