Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:tibial muscular dystrophy
go back to main search page
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.


show annotations for term's descendants       view all columns           Sort by:
 
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 15992
    Developmental Diseases 9280
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8094
        genetic disease 7612
          monogenic disease 5382
            autosomal genetic disease 4347
              autosomal dominant disease 2713
                tibial muscular dystrophy 1
Path 2
Term Annotations click to browse term
  disease 15992
    disease of anatomical entity 15263
      nervous system disease 10756
        peripheral nervous system disease 2359
          neuropathy 2174
            neuromuscular disease 1706
              muscular disease 1120
                muscle tissue disease 758
                  myopathy 613
                    muscular dystrophy 305
                      distal myopathy 24
                        tibial muscular dystrophy 1
paths to the root

NHLBI Logo

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