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ONTOLOGY REPORT - ANNOTATIONS


Term:oculopharyngeal muscular dystrophy
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Accession:DOID:11719 term browser browse the term
Definition:An autosomal dominant hereditary disease that presents in late in life and is characterized by DYSPHAGIA and progressive ptosis of the eyelids. Mutations in the gene for POLY(A)-BINDING PROTEIN II have been associated with oculopharyngeal muscular dystrophy.
Synonyms:exact_synonym: OPMD;   Oculopharyngeal Dystrophy;   Oculopharyngeal Muscular Dystrophies;   Progressive Muscular Dystrophy, Oculopharyngeal Type
 primary_id: MESH:D039141;   RDO:0001902
 alt_id: OMIM:164300
 xref: NCI:C84942
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oculopharyngeal muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrp12 LDL receptor related protein 12 JBrowse link 7 78,859,784 78,930,850 RGD:11554173
G Pabpn1 poly(A) binding protein, nuclear 1 JBrowse link 15 33,555,640 33,560,251 RGD:7240710
RGD:8554872
RGD:11554173
mitochondrial DNA depletion syndrome 8b term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B JBrowse link 7 76,750,045 76,780,817 RGD:8554872
RGD:11554173
RGD:7240710
G Tymp thymidine phosphorylase JBrowse link 7 130,342,481 130,347,845 RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      musculoskeletal system disease 4326
        muscular disease 1002
          myopathy 559
            myopathy of extraocular muscle 4
              oculopharyngeal muscular dystrophy 4
                mitochondrial DNA depletion syndrome 8b 2
Path 2
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      nervous system disease 10167
        peripheral nervous system disease 2164
          neuropathy 1988
            neuromuscular disease 1559
              muscular disease 1002
                muscle tissue disease 695
                  myopathy 559
                    muscular dystrophy 279
                      oculopharyngeal muscular dystrophy 4
                        mitochondrial DNA depletion syndrome 8b 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.