ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal dominant limb-girdle muscular dystrophy type 3
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Accession:DOID:0110306 term browser browse the term
Definition:An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the HNRNPDL gene on chromosome 4q21. (DO)
Synonyms:exact_synonym: LGMD1G;   autosomal dominant limb-girdle muscular dystrophy type 1G;   muscular dystrophy limb-girdle type 1G
 primary_id: MESH:C563794
 alt_id: OMIM:609115;   RDO:0012962
 xref: ORDO:55596
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autosomal dominant limb-girdle muscular dystrophy type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hnrnpdl heterogeneous nuclear ribonucleoprotein D-like JBrowse link 14 11,199,114 11,204,670 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14919
    disease of anatomical entity 14083
      musculoskeletal system disease 3995
        muscular disease 908
          atrophic muscular disease 244
            muscular dystrophy 243
              limb-girdle muscular dystrophy 115
                autosomal dominant limb-girdle muscular dystrophy 7
                  autosomal dominant limb-girdle muscular dystrophy type 3 1
Path 2
Term Annotations click to browse term
  disease 14919
    disease of anatomical entity 14083
      nervous system disease 9147
        peripheral nervous system disease 2015
          neuropathy 1836
            neuromuscular disease 1412
              muscular disease 908
                muscle tissue disease 636
                  myopathy 523
                    muscular dystrophy 243
                      limb-girdle muscular dystrophy 115
                        autosomal dominant limb-girdle muscular dystrophy 7
                          autosomal dominant limb-girdle muscular dystrophy type 3 1
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