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 14926
    Developmental Diseases 7774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7096
        genetic disease 6457
          tibial muscular dystrophy 1
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14092
      nervous system disease 9154
        peripheral nervous system disease 2018
          neuropathy 1839
            neuromuscular disease 1413
              muscular disease 909
                muscle tissue disease 636
                  myopathy 523
                    muscular dystrophy 244
                      distal myopathy 35
                        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.