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Glycogen Storage Disease Vii (MONDO:0009295)

Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood.

Overview

Category

hematologic disorder

Ontology ID

MONDO:0009295

Internal:10534

Synonyms

GSD due to muscle phosphofructokinase deficiency

GSD type 7

GSD type VII

GSDVII

Glycogen Storage Disease Type 7

PFKM glycogen storage disease

Tarui disease

glycogen storage disease VII

glycogen storage disease caused by mutation in PFKM

glycogen storage disease type 7

glycogen storage disease type VII

glycogenosis due to muscle phosphofructokinase deficiency

glycogenosis type 7

glycogenosis type VII

phosphofructokinase deficiency

GSD 7

GSD7

Pfkm deficiency

glycogen storage disease 7

glycogen storage disease due to muscle phosphofructokinase deficiency

muscle phosphofructokinase deficiency

Mapped terms

DOID:11721

GARD:0005686

MEDGEN:5342

MESH:D006014

MedDRA:10053241

NANDO:1200823

NANDO:1200829

NANDO:2200543

NCIT:C118437

NORD:1196

OMIM:232800

Orphanet:371

SCTID:89597008

UMLS:C0017926

Child terms

Unknown children.

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