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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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 Deficiency;   Pfkm Deficiencies;   Pfkm Deficiency;   Tarui Disease;   Tarui's Disease;   Taruis disease;   glycogen storage disease type VII;   muscle phosphofructokinase deficiencies;   phosphofructokinase myopathy
 primary_id: MESH:D006014
 alt_id: OMIA:000421;   OMIM:232800
 xref: ICD10CM:E74.09;   NCI:C118437;   ORDO:371
For additional species annotation, visit the Alliance of Genome Resources.


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glycogen storage disease VII term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hif1a hypoxia inducible factor 1 subunit alpha ISS OMIM:232800 MouseDO NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
JBrowse link
G Pfkm phosphofructokinase, muscle ISO ClinVar Annotator: match by OMIM:232800
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glycogen storage disease, type VII
OMIM
ClinVar
CTD
PMID:1833270, PMID:2140573, PMID:7479776, PMID:7513946, PMID:7603526, PMID:7825568, PMID:8037209, PMID:8444874, PMID:8659544, PMID:8880699, PMID:8889589, PMID:9389749, PMID:9443500, PMID:14339001, PMID:24011984, PMID:24033266, PMID:25741868, PMID:27066546, PMID:28492532, PMID:28779239, PMID:1533013 RGD:1599108 NCBI chr 7:139,702,066...139,722,132
Ensembl chr 7:139,685,573...139,722,132
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      musculoskeletal system disease 5757
        muscular disease 1223
          atrophic muscular disease 333
            muscular dystrophy 331
              glycogen storage disease VII 2
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        peripheral nervous system disease 2500
          neuropathy 2320
            neuromuscular disease 1805
              muscular disease 1223
                muscle tissue disease 830
                  myopathy 686
                    muscular dystrophy 331
                      glycogen storage disease VII 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.