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oculopharyngodistal myopathy 1 - Ontology Report - Rat Genome Database

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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 1
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Accession:DOID:0081297 term browser browse the term
Definition:An oculopharyngodistal myopathy that is characterized by adult-onset ptosis, external ophthalmoplegia, facial muscle weakness, distal limb muscle weakness and atrophy, and pharyngeal involvement, resulting in dysphagia and dysarthria, and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region of the LRP12 gene on chromosome 8q22. (DO)
Synonyms:exact_synonym: OPDM1
 broad_synonym: LRP12-related condition
 alt_id: DOID:9002808
 xref: MIM:164310;   MONDO:0020793

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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 7:72,825,979...72,897,308
Ensembl chr 7:70,941,068...71,012,441 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    Developmental Disease 14675
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          monogenic disease 10964
            autosomal genetic disease 10452
              autosomal dominant disease 6794
                oculopharyngodistal myopathy 1 1
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      nervous system disease 14363
        peripheral nervous system disease 4397
          neuropathy 4185
            neuromuscular disease 3226
              muscular disease 2233
                muscle tissue disease 1357
                  myopathy 1049
                    muscular dystrophy 654
                      oculopharyngodistal myopathy 4
                        oculopharyngodistal myopathy 1 1
paths to the root