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ONTOLOGY REPORT - ANNOTATIONS


Term:myotonic dystrophy type 1
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Accession:DOID:11722 term browser browse the term
Definition:A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_material_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region. (DO)
Synonyms:exact_synonym: DM;   DM1;   Dystrophia Myotonica;   Dystrophia Myotonica 1;   Myotonia Atrophica;   Myotonia Dystrophica;   Myotonic Dystrophies;   Myotonic Dystrophy 1;   PROMM;   PROMM (Proximal Myotonic Myopathy);   PROMMs (Proximal Myotonic Myopathy);   Proximal Myotonic Myopathies;   Proximal Myotonic Myopathy;   Ricker Syndrome;   Steinert Disease;   Steinert Myotonic Dystrophy;   Steinert myotonic dystrophy syndrome;   Steinert's disease;   Steinerts disease;   congenital myotonic dystrophies;   congenital myotonic dystrophy;   myotonic dystrophy of Steinert
 alt_id: OMIM:160900
 xref: GARD:8310;   ICD10CM:G71.11;   ICD9CM:359.21;   NCI:C84914
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myotonic dystrophy type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmpk DM1 protein kinase JBrowse link 1 79,988,096 79,999,358 RGD:1600900
RGD:8554872
RGD:7240710
G Ldb3 LIM domain binding 3 JBrowse link 16 10,878,348 10,943,016 RGD:12792205
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxc1 forkhead box C1 JBrowse link 17 33,947,501 33,951,484 RGD:11554173
G Hmgn2 high mobility group nucleosomal binding domain 2 JBrowse link 5 152,195,359 152,198,813 RGD:13592920
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:11554173
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:7240710
RGD:8554872
RGD:11554173
G Prdm5 PR/SET domain 5 JBrowse link 4 96,659,062 96,810,816 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15984
    disease of anatomical entity 15262
      musculoskeletal system disease 5527
        muscular disease 1121
          myotonic disease 18
            myotonic dystrophy type 1 7
              Axenfeld-Rieger syndrome type 1 5
Path 2
Term Annotations click to browse term
  disease 15984
    disease of anatomical entity 15262
      nervous system disease 10752
        peripheral nervous system disease 2360
          neuropathy 2175
            neuromuscular disease 1707
              muscular disease 1121
                muscle tissue disease 759
                  myopathy 614
                    muscular dystrophy 305
                      myotonic disease 18
                        myotonic dystrophy type 1 7
                          Axenfeld-Rieger syndrome type 1 5
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.