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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 3
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Accession:DOID:0081299 term browser browse the term
Definition:An oculopharyngodistal myopathy that is characterized by progressive muscle weakness with ocular, facial, pharyngeal, and distal limb involvement, resulting in dysarthria and gait difficulties and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region (UTR) of the NOTCH2NLC gene on chromosome 1q21. (DO)
Synonyms:exact_synonym: OPDM3
 primary_id: OMIM:619473
 alt_id: DOID:9002692


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    Developmental Disease 18447
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18306
        genetic disease 18250
          monogenic disease 10365
            autosomal genetic disease 9518
              autosomal dominant disease 6235
                oculopharyngodistal myopathy 3 0
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18213
      nervous system disease 14061
        peripheral nervous system disease 4113
          neuropathy 3898
            neuromuscular disease 3056
              muscular disease 2146
                muscle tissue disease 1293
                  myopathy 1008
                    muscular dystrophy 599
                      oculopharyngodistal myopathy 3
                        oculopharyngodistal myopathy 3 0
paths to the root