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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 2
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Accession:DOID:0081298 term browser browse the term
Definition:An oculopharyngodistal myopathy that is characterized by onset of distal muscle weakness, mainly of the lower limbs, and/or ophthalmoplegia in the second or third decades of life, and that has_material_basis_in heterozygous trinucleotide repeat expansion (GGC(n)) in the 5-prime untranslated region (UTR) of the GIPC1 gene on chromosome 19p13. (DO)
Synonyms:exact_synonym: OPDM2
 primary_id: MIM:618940
 alt_id: DOID:9000168
 xref: NCI:C190873

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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 chrNW_004936659:3,019,829...3,030,280
Ensembl chrNW_004936659:3,012,012...3,026,883 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14641
    Developmental Disease 12849
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12093
        genetic disease 11814
          monogenic disease 10162
            autosomal genetic disease 9757
              autosomal dominant disease 6349
                oculopharyngodistal myopathy 2 1
Path 2
Term Annotations click to browse term
  disease 14641
    disease of anatomical entity 14330
      nervous system disease 12614
        peripheral nervous system disease 4163
          neuropathy 3983
            neuromuscular disease 3066
              muscular disease 2131
                muscle tissue disease 1290
                  myopathy 997
                    muscular dystrophy 632
                      oculopharyngodistal myopathy 4
                        oculopharyngodistal myopathy 2 1
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