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ONTOLOGY REPORT - ANNOTATIONS


Term:Becker muscular dystrophy
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Accession:DOID:9883 term browser browse the term
Definition:A muscular dystrophy that involves slowly worsening muscle weakness of the legs and pelvis, and has_material_basis in X-linked recessive inheritance of mutation in the dystrophin gene on chromosome Xp21. (DO)
Synonyms:exact_synonym: BMD;   Becker's muscular dystrophy;   benign congenital myopathy;   benign pseudohypertrophic muscular dystrophy;   muscular dystrophy, Becker type;   pseudohypertrophic progressive muscular dystrophy, Becker type
 primary_id: OMIM:300376
 xref: GARD:5900;   ORDO:98895
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Becker muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
RGD:7240710
G Pkp2 plakophilin 2 JBrowse link 11 88,912,163 88,972,213 RGD:8554872
G Snta1 syntrophin, alpha 1 JBrowse link 3 149,874,023 149,905,980 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      musculoskeletal system disease 4326
        muscular disease 1002
          atrophic muscular disease 281
            muscular dystrophy 279
              Becker muscular dystrophy 3
                Benign Pseudohypertrophic Muscular Dystrophy 0
Path 2
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      nervous system disease 10167
        peripheral nervous system disease 2164
          neuropathy 1988
            neuromuscular disease 1559
              muscular disease 1002
                muscle tissue disease 695
                  myopathy 559
                    muscular dystrophy 279
                      Becker muscular dystrophy 3
                        Benign Pseudohypertrophic Muscular Dystrophy 0
paths to the root

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