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ONTOLOGY REPORT - ANNOTATIONS


Term:Duchenne muscular dystrophy
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Accession:DOID:11723 term browser browse the term
Definition:An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)
Synonyms:exact_synonym: DMD;   Duchenne Becker Muscular Dystrophy;   Duchenne Type Progressive Muscular Dystrophy;   Duchenne and Becker muscular dystrophy;   Muscular Dystrophy, Duchenne Type;   Muscular Dystrophy, Duchenne and Becker Types;   childhood pseudohypertrophic muscular dystrophy;   pseudohypertrophic muscular dystrophy;   pseudohypertrophic progressive muscular dystrophy, Duchenne type
 narrow_synonym: INTERMEDIATE MUSCULAR DYSTROPHY
 related_synonym: X-LINKED DMD-RELATED DYSTROPHINOPATHY
 primary_id: MESH:D020388
 alt_id: OMIA:001081;   OMIM:310200;   RDO:0003545
 xref: GARD:6291;   NCI:C75482
For additional species annotation, visit the Alliance of Genome Resources.


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Duchenne muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AKAP6 A-kinase anchoring protein 6 JBrowse link 14 32,203,610 32,837,684 RGD:14349026
G CCL2 C-C motif chemokine ligand 2 JBrowse link 17 34,255,285 34,257,203 RGD:11554173
G CD4 CD4 molecule JBrowse link 12 6,789,528 6,820,810 RGD:11554173
G CTSS cathepsin S JBrowse link 1 150,730,188 150,765,778 RGD:13592920
G DAG1 dystroglycan 1 JBrowse link 3 49,468,703 49,535,618 RGD:11073211
RGD:11537476
RGD:11552581
G DMD dystrophin JBrowse link X 31,119,219 33,339,460 RGD:1580859
RGD:8554872
RGD:11554173
RGD:7240710
RGD:12880034
RGD:12880014
RGD:12880007
RGD:11040981
RGD:12879862
RGD:737706
G ITGA7 integrin subunit alpha 7 JBrowse link 12 55,684,568 55,716,037 RGD:13601981
G MIR3915 microRNA 3915 JBrowse link X 32,583,656 32,583,752 RGD:8554872
G MIR548F5 microRNA 548f-5 JBrowse link X 32,641,474 32,641,559 RGD:8554872
G MMP9 matrix metallopeptidase 9 JBrowse link 20 46,008,908 46,016,561 RGD:13204809
G NOS1 nitric oxide synthase 1 JBrowse link 12 117,208,142 117,361,802 RGD:13825135
G PKP2 plakophilin 2 JBrowse link 12 32,790,746 32,896,846 RGD:8554872
G PLA2G6 phospholipase A2 group VI JBrowse link 22 38,111,495 38,181,830 RGD:12910703
G POSTN periostin JBrowse link 13 37,562,582 37,598,844 RGD:11554173
G SNTA1 syntrophin alpha 1 JBrowse link 20 33,407,957 33,443,853 RGD:8554872
G STX1B syntaxin 1B JBrowse link 16 30,989,256 31,010,638 RGD:12903957
G STXBP1 syntaxin binding protein 1 JBrowse link 9 127,611,912 127,696,029 RGD:12903957
G TGFB1 transforming growth factor beta 1 JBrowse link 19 41,330,323 41,353,922 RGD:11554173
G TIMP2 TIMP metallopeptidase inhibitor 2 JBrowse link 17 78,852,977 78,925,387 RGD:1580161
G UTRN utrophin JBrowse link 6 144,284,955 144,853,034 RGD:737706
Benign Pseudohypertrophic Muscular Dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DMD dystrophin JBrowse link X 31,119,219 33,339,460 RGD:8554872
G PKP2 plakophilin 2 JBrowse link 12 32,790,746 32,896,846 RGD:8554872
G SNTA1 syntrophin alpha 1 JBrowse link 20 33,407,957 33,443,853 RGD:8554872
Duchenne Muscular Dystrophy, Mental Retardation, and Absence of ERG B-wave term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DMD dystrophin JBrowse link X 31,119,219 33,339,460 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16990
    disease of anatomical entity 16013
      musculoskeletal system disease 5650
        muscular disease 1172
          atrophic muscular disease 332
            muscular dystrophy 330
              Duchenne muscular dystrophy 20
                Benign Pseudohypertrophic Muscular Dystrophy 3
                Duchenne Muscular Dystrophy, Mental Retardation, and Absence of ERG B-wave 1
Path 2
Term Annotations click to browse term
  disease 16990
    disease of anatomical entity 16013
      nervous system disease 12298
        peripheral nervous system disease 2454
          neuropathy 2276
            neuromuscular disease 1798
              muscular disease 1172
                muscle tissue disease 806
                  atrophic muscular disease 332
                    muscular dystrophy 330
                      Duchenne muscular dystrophy 20
                        Benign Pseudohypertrophic Muscular Dystrophy 3
                        Duchenne Muscular Dystrophy, Mental Retardation, and Absence of ERG B-wave 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.