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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: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. (DO)
Synonyms:exact_synonym: GSD VII;   GSD7;   Glycogen storage disease 7;   Muscle Phosphofructokinase Deficiency;   PFKM deficiencies;   PFKM deficiency;   Tarui Disease;   Tarui's disease;   Taruis disease;   glycogen storage disease type VII;   glycogenosis 7;   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 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261 		JBrowse link
G Pfkm phosphofructokinase, muscle ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glycogen storage disease, type VII | ClinVar Annotator: match by term: Tarui disease
OMIM:232800		 OMIM
CTD
ClinVar
MouseDO
RGD		 PMID:1833270 PMID:2140573 PMID:7479776 PMID:7513946 PMID:7603526 More... RGD:1599108 NCBI chr 7:129,221,679...129,259,192
Ensembl chr 7:129,221,653...129,259,192 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      musculoskeletal system disease 8306
        muscular disease 2148
          muscle tissue disease 1294
            atrophic muscular disease 604
              muscular dystrophy 600
                glycogen storage disease VII 2
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        peripheral nervous system disease 4124
          neuropathy 3907
            neuromuscular disease 3059
              muscular disease 2148
                muscle tissue disease 1294
                  myopathy 1008
                    muscular dystrophy 600
                      glycogen storage disease VII 2
paths to the root