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ONTOLOGY REPORT - ANNOTATIONS


Term:tibial muscular dystrophy
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Accession:DOID:0111078 term browser browse the term
Definition:A distal muscular dystrophy characterized by autosomal dominant inheritance of late-onset muscular dystrophy beginning in the anterior comparment of the legs that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31. (DO)
Synonyms:exact_synonym: Finnish Markesbery muscular dystrophy;   Finnish tibial muscular dystrophy;   TMD;   Udd Markesbery muscular dystrophy;   Udd distal myopathy;   Udd myopathy;   Udd type distal myopathy;   distal titinopathy;   tardive tibial muscular dystrophy;   tibial muscular dystrophies
 primary_id: OMIM:600334
 alt_id: RDO:9002947
 xref: ORDO:609
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tibial muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15625
    disease of anatomical entity 14954
      musculoskeletal system disease 4281
        muscular disease 958
          atrophic muscular disease 278
            muscular dystrophy 276
              distal myopathy 25
                tibial muscular dystrophy 1
Path 2
Term Annotations click to browse term
  disease 15625
    disease of anatomical entity 14954
      nervous system disease 10224
        peripheral nervous system disease 2126
          neuropathy 1949
            neuromuscular disease 1521
              muscular disease 958
                muscle tissue disease 685
                  myopathy 551
                    muscular dystrophy 276
                      distal myopathy 25
                        tibial muscular dystrophy 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.