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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:glycogen storage disease VII
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Accession:EFO:MONDO:0009295 term browser browse the term
Definition: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.
Synonyms:exact_synonym: GSD due to muscle phosphofructokinase deficiency;   GSD type 7;   GSD type VII;   GSDVII;   PFKM glycogen storage disease;   Tarui disease;   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;   phosphofructokinase myopathy
 related_synonym: GSD 7;   GSD7;   Pfkm deficiency;   glycogen storage disease 7;   glycogen storage disease due to muscle phosphofructokinase deficiency;   muscle phosphofructokinase deficiency
 alt_id: MONDO:0009295
 xref: DOID:11721;   GARD:5686;   MEDGEN:5342;   MESH:D006014;   MIM:232800;   MedDRA:10053241;   NANDO:1200823;   NANDO:1200829;   NANDO:2200543;   NCI:C118437;   NORD:1196;   ORDO:371;   SCTID:89597008;   UMLS:C0017926


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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            familial hemolytic anemia 0
              glycogen storage disease VII 0
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  experimental factor 0
    material property 0
      quality 0
        phenotype 0
          Phenotypic abnormality 0
            Abnormality of blood and blood-forming tissues 0
              Abnormal erythrocyte morphology 0
                anemia (phenotype) 0
                  anemia due to enzyme disorder 0
                    anemia due to erythrocyte enzyme disorder 0
                      glycogen storage disease VII 0
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