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ONTOLOGY REPORT - ANNOTATIONS


Term:myofibrillar myopathy 3
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Accession:DOID:0080094 term browser browse the term
Definition:A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the TTID gene on chromosome 5q31. (DO)
Synonyms:exact_synonym: LGMD1;   LGMD1A;   MFM3;   autosomal dominant limb-girdle muscular dystrophy type 1A;   limb-girdle muscular dystrophy due to myotilin deficiency;   muscular dystrophy limb-girdle type 1A;   muscular dystrophy, limb-girdle, type1A;   muscular dystrophy, proximal, type 1A;   myofibrillar myopathy, myotilin-related;   myotilinopathy
 primary_id: MESH:C535906;   MESH:C563775
 alt_id: DOID:0110300;   OMIM:609200;   RDO:0001273;   RDO:0012947
 xref: ORDO:266
For additional species annotation, visit the Alliance of Genome Resources.


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myofibrillar myopathy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myot myotilin JBrowse link 18 35,573,978 35,593,541 RGD:8554872
RGD:7240710
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      congenital structural myopathy 134
        myofibrillar myopathy 53
          myofibrillar myopathy 3 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        peripheral nervous system disease 1998
          neuropathy 1823
            neuromuscular disease 1406
              muscular disease 902
                muscle tissue disease 631
                  atrophic muscular disease 243
                    muscular dystrophy 242
                      limb-girdle muscular dystrophy 115
                        autosomal dominant limb-girdle muscular dystrophy 7
                          myofibrillar myopathy 3 1
paths to the root