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 NCI:C118437 OMIM:232800 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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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PFKM	pfkmb pfkma	Glycogen storage disease VII	232800

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None