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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:Oculopharyngodistal Myopathy
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Accession:DOID:9008215 term browser browse the term
Synonyms:exact_synonym: FOLP-DR;   OPDM;   faciooculolaryngopharyngeal myopathy with distal and respiratory involvement
 primary_id: MESH:C563508
 xref: OMIM:PS164310
For additional species annotation, visit the Alliance of Genome Resources.


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Oculopharyngodistal Myopathy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp12 LDL receptor related protein 12 ISO OMIM NCBI chr 7:78,859,784...78,930,850
Ensembl chr 7:78,859,784...78,930,832
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Oculopharyngodistal Myopathy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gipc1 GIPC PDZ domain containing family, member 1 ISO OMIM NCBI chr19:24,786,604...24,798,231
Ensembl chr19:24,786,628...24,798,233
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      musculoskeletal system disease 5740
        muscular disease 1168
          atrophic muscular disease 316
            muscular dystrophy 314
              Oculopharyngodistal Myopathy 2
                Oculopharyngodistal Myopathy 1 1
                Oculopharyngodistal Myopathy 2 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        peripheral nervous system disease 2425
          neuropathy 2243
            neuromuscular disease 1763
              muscular disease 1168
                muscle tissue disease 792
                  myopathy 644
                    muscular dystrophy 314
                      Oculopharyngodistal Myopathy 2
                        Oculopharyngodistal Myopathy 1 1
                        Oculopharyngodistal Myopathy 2 1
paths to the root