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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: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
For additional species annotation, visit the Alliance of Genome Resources.


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tibial muscular dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttn titin ISO ClinVar Annotator: match by term: Tibial muscular dystrophy
ClinVar Annotator: match by term: Udd Distal Myopathy
ClinVar Annotator: match by term: UDD Myopathy
ClinVar
OMIM
PMID:1745277 PMID:10053013 PMID:10462489 PMID:11717165 PMID:12145747 PMID:12669942 PMID:12891679 PMID:15802564 PMID:17344846 PMID:17444505 PMID:18414213 PMID:18948003 PMID:19608031 PMID:19911250 PMID:20301498 PMID:20890277 PMID:21520333 PMID:21617319 PMID:21810661 PMID:22335739 PMID:22526018 PMID:23299917 PMID:23396983 PMID:23418287 PMID:23478172 PMID:23486992 PMID:23518707 PMID:23675308 PMID:23757202 PMID:23861362 PMID:23975875 PMID:24033266 PMID:24055113 PMID:24082139 PMID:24105469 PMID:24231549 PMID:24271327 PMID:24315344 PMID:24395473 PMID:24440382 PMID:24459294 PMID:24503780 PMID:24558114 PMID:24569025 PMID:24578547 PMID:24892279 PMID:25016126 PMID:25145518 PMID:25163546 PMID:25214167 PMID:25326637 PMID:25447171 PMID:25498755 PMID:25556389 PMID:25589632 PMID:25626705 PMID:25741868 PMID:25772186 PMID:25783436 PMID:25889363 PMID:25979592 PMID:26272908 PMID:26383259 PMID:26467025 PMID:26498160 PMID:26516846 PMID:26559152 PMID:26627873 PMID:26701604 PMID:26718681 PMID:26777568 PMID:27066507 PMID:27194543 PMID:27273923 PMID:27585509 PMID:27588451 PMID:27650965 PMID:27788187 PMID:27854218 PMID:27854229 PMID:27868399 PMID:27930701 PMID:28045975 PMID:28166282 PMID:28256728 PMID:28492532 PMID:28578331 PMID:28600387 PMID:28750076 PMID:28771489 PMID:28822653 PMID:28831623 PMID:28857138 PMID:29099038 PMID:29221435 PMID:29361395 PMID:29386531 PMID:29540445 PMID:29892087 PMID:29961767 PMID:29970176 PMID:30311386 PMID:30535219 PMID:30615648 PMID:30924900 PMID:30985088 PMID:30993396 PMID:31127727 PMID:31795264 PMID:31983221 NCBI chr 3:63,565,160...63,837,815 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal dominant disease 3058
                tibial muscular dystrophy 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        peripheral nervous system disease 2498
          neuropathy 2319
            neuromuscular disease 1802
              muscular disease 1218
                muscle tissue disease 829
                  myopathy 683
                    muscular dystrophy 330
                      distal myopathy 25
                        tibial muscular dystrophy 1
paths to the root