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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
 alt_id: OMIM:261670
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
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: Dimauro disease | ClinVar Annotator: match by term: Myopathy due to phosphoglycerate mutase deficiency ClinVar PMID:2987758 PMID:6308514 PMID:8447317 PMID:9536098 PMID:10545043 More... NCBI chr14:80,666,115...80,681,155
Ensembl chr14:80,666,124...80,681,155
JBrowse link
G Pgam2 phosphoglycerate mutase 2 ISO ClinVar Annotator: match by term: Dimauro disease | ClinVar Annotator: match by term: Myopathy due to phosphoglycerate mutase deficiency OMIM
ClinVar
PMID:2987758 PMID:6308514 PMID:8447317 PMID:9536098 PMID:10545043 More... NCBI chr14:80,681,796...80,683,907
Ensembl chr14:80,681,776...80,683,940
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    disease of anatomical entity 17617
      musculoskeletal system disease 7308
        muscular disease 1465
          Dimauro Disease 2
Path 2
Term Annotations click to browse term
  disease 18256
    disease of anatomical entity 17617
      nervous system disease 13267
        peripheral nervous system disease 3065
          neuropathy 2847
            neuromuscular disease 2237
              muscular disease 1465
                Dimauro Disease 2
paths to the root