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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: MIM:261670


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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: Dimauro disease | ClinVar Annotator: match by term: Myopathy due to phosphoglycerate mutase deficiency | ClinVar Annotator: match by term: PGAMM 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dimauro disease | ClinVar Annotator: match by term: Myopathy due to phosphoglycerate mutase deficiency | ClinVar Annotator: match by term: PGAMM DEFICIENCY 		OMIM
CTD
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 19143
    disease of anatomical entity 18456
      musculoskeletal system disease 8470
        muscular disease 2239
          Dimauro Disease 2
Path 2
Term Annotations click to browse term
  disease 19143
    disease of anatomical entity 18456
      nervous system disease 14362
        peripheral nervous system disease 4410
          neuropathy 4196
            neuromuscular disease 3234
              muscular disease 2239
                Dimauro Disease 2
paths to the root