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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:Dimauro Disease
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Accession:DOID:9005787 term browser browse the term
Synonyms:exact_synonym: Deficiency Mutase Phosphoglycerate;   Glycogen Storage Disease X;   Gsd X;   Gsd10;   Human muscle phosphoglycerate mutase deficiency;   Myopathy due to phosphoglycerate mutase deficiency;   PGAMM deficiency;   Pgam Deficiency;   Phosphoglycerate Mutase, Muscle, Deficiency of
 primary_id: MESH:C536176;   RDO:0001651
 alt_id: OMIM:261670
For additional species annotation, visit the Alliance of Genome Resources.


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Dimauro Disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dbnl drebrin like ISO ClinVar Annotator: match by term: Myopathy due to phosphoglycerate mutase deficiency
ClinVar Annotator: match by term: PHOSPHOGLYCERATE MUTASE, MUSCLE, DEFICIENCY OF
ClinVar PMID:2987758 PMID:6308514 PMID:8447317 PMID:10545043 PMID:22995991 PMID:23169535 PMID:25741868 PMID:27612597 PMID:28492532 NCBI chrNW_004955456:7,912,827...7,924,373
Ensembl chrNW_004955456:7,912,827...7,924,787
JBrowse link
G Pgam2 phosphoglycerate mutase 2 ISO OMIM NCBI chrNW_004955456:7,909,891...7,912,116
Ensembl chrNW_004955456:7,909,891...7,912,116
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11866
    disease of anatomical entity 11420
      musculoskeletal system disease 4919
        muscular disease 1071
          Dimauro Disease 2
Path 2
Term Annotations click to browse term
  disease 11866
    disease of anatomical entity 11420
      nervous system disease 9342
        peripheral nervous system disease 2216
          neuropathy 2067
            neuromuscular disease 1620
              muscular disease 1071
                Dimauro Disease 2
paths to the root