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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.


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: PHOSPHOGLYCERATE MUTASE, MUSCLE, DEFICIENCY OF
ClinVar Annotator: match by term: Myopathy due to phosphoglycerate mutase deficiency
ClinVar PMID:2987758, PMID:6308514, PMID:8447317, PMID:10545043, PMID:22995991, PMID:23169535, PMID:25741868, PMID:27612597, PMID:28492532 NCBI chr14:86,029,335...86,044,364
Ensembl chr14:86,029,335...86,044,364
JBrowse link
G Pgam2 phosphoglycerate mutase 2 ISO ClinVar Annotator: match by term: Myopathy due to phosphoglycerate mutase deficiency
ClinVar Annotator: match by OMIM:261670
ClinVar Annotator: match by term: PHOSPHOGLYCERATE MUTASE, MUSCLE, DEFICIENCY OF
OMIM
ClinVar
PMID:2987758, PMID:6308514, PMID:8447317, PMID:10545043, PMID:22995991, PMID:23169535, PMID:25741868, PMID:27612597, PMID:28492532 NCBI chr14:86,045,005...86,047,116
Ensembl chr14:86,044,969...86,047,162
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      musculoskeletal system disease 5737
        muscular disease 1201
          Dimauro Disease 2
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        peripheral nervous system disease 2476
          neuropathy 2297
            neuromuscular disease 1778
              muscular disease 1201
                Dimauro Disease 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.