ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive limb-girdle muscular dystrophy type 2M
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Accession:DOID:0110296 term browser browse the term
Definition:An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin (FKTN) on chromosome 9q31. (DO)
Synonyms:exact_synonym: LGMD2M;   MDDGC4;   limb-girdle muscular dystrophy type 2M;   muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4
 primary_id: MESH:C566912
 alt_id: DOID:9005017;   OMIM:611588;   RDO:0009545;   RDO:0015125
 xref: ORDO:206554
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autosomal recessive limb-girdle muscular dystrophy type 2M term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fktn fukutin JBrowse link 5 70,522,001 70,578,270 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      musculoskeletal system disease 3997
        muscular disease 908
          atrophic muscular disease 245
            muscular dystrophy 244
              limb-girdle muscular dystrophy 115
                autosomal recessive limb-girdle muscular dystrophy 99
                  autosomal recessive limb-girdle muscular dystrophy type 2M 1
Path 2
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      nervous system disease 9150
        peripheral nervous system disease 2017
          neuropathy 1838
            neuromuscular disease 1413
              muscular disease 908
                muscle tissue disease 635
                  myopathy 522
                    muscular dystrophy 244
                      limb-girdle muscular dystrophy 115
                        autosomal recessive limb-girdle muscular dystrophy 99
                          autosomal recessive limb-girdle muscular dystrophy type 2M 1
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