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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:0081296 term browser browse the term
Definition:A myopathy that is characterized by progressive external ocular, facial and pharyngeal muscle weakness, leading to variable degrees of ptosis, ophthalmoparesis, facial muscle atrophy, dysarthria and dysphagia, as well as distal muscle weakness and atrophy of lower and upper extremities. (DO)
Synonyms:exact_synonym: FOLP-DR;   OPDM;   faciooculolaryngopharyngeal myopathy with distal and respiratory involvement;   oculopharyngodistal myopathies
 primary_id: MESH:C563508
 alt_id: DOID:9008215
 xref: GARD:12592;   OMIM:PS164310;   ORDO:98897


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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 7:70,941,068...71,012,409
Ensembl chr 7:70,941,068...71,012,441 		JBrowse link
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 chr19:24,474,291...24,487,083
Ensembl chr19:24,453,123...24,486,997 		JBrowse link
oculopharyngodistal myopathy 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rilpl1 Rab interacting lysosomal protein-like 1 ISO OMIM NCBI chr12:32,071,870...32,109,687
Ensembl chr12:32,071,693...32,109,938 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      musculoskeletal system disease 8272
        muscular disease 2142
          muscle tissue disease 1289
            myopathy 1004
              muscular dystrophy 597
                oculopharyngodistal myopathy 3
                  oculopharyngodistal myopathy 1 1
                  oculopharyngodistal myopathy 2 1
                  oculopharyngodistal myopathy 3 0
                  oculopharyngodistal myopathy 4 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        peripheral nervous system disease 4110
          neuropathy 3895
            neuromuscular disease 3052
              muscular disease 2142
                muscle tissue disease 1289
                  myopathy 1004
                    muscular dystrophy 597
                      oculopharyngodistal myopathy 3
                        oculopharyngodistal myopathy 1 1
                        oculopharyngodistal myopathy 2 1
                        oculopharyngodistal myopathy 3 0
                        oculopharyngodistal myopathy 4 1
paths to the root