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ONTOLOGY REPORT - ANNOTATIONS


Term:glycogen storage disease VII
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Accession:DOID:11721 term browser browse the term
Definition:An autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle (PHOSPHOFRUCTOKINASE-1, MUSCLE TYPE) resulting in abnormal deposition of glycogen in muscle tissue. These patients have severe congenital muscular dystrophy and are exercise intolerant.
Synonyms:exact_synonym: GSD VII;   GSD7;   Glycogenosis 7;   Muscle Phosphofructokinase Deficiencies;   Muscle Phosphofructokinase Deficiency;   Pfkm Deficiencies;   Pfkm Deficiency;   Tarui Disease;   Tarui's Disease;   Taruis Disease;   glycogen storage disease type VII;   phosphofructokinase myopathy
 primary_id: MESH:D006014;   RDO:0005684
 alt_id: OMIA:000421;   OMIM:232800
 xref: NCI:C118437
For additional species annotation, visit the Alliance of Genome Resources.


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glycogen storage disease VII term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hif1a hypoxia inducible factor 1 subunit alpha JBrowse link 6 96,810,868 96,856,303 RGD:13592920
G Pfkm phosphofructokinase, muscle JBrowse link 7 139,702,066 139,722,132 RGD:1599108
RGD:7240710
RGD:8554872
RGD:11554173

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Path 1
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      musculoskeletal system disease 4277
        muscular disease 959
          atrophic muscular disease 279
            muscular dystrophy 277
              glycogen storage disease VII 2
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        peripheral nervous system disease 2127
          neuropathy 1950
            neuromuscular disease 1522
              muscular disease 959
                muscle tissue disease 685
                  atrophic muscular disease 279
                    muscular dystrophy 277
                      glycogen storage disease VII 2
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