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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Duchenne muscular dystrophy
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Accession:DOID:11723 term browser browse the term
Definition:A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy. (DO)
Synonyms:exact_synonym: DMD;   DYSTROPHINOPATHIES;   Duchenne Type Progressive Muscular Dystrophy;   Duchenne and Becker muscular dystrophy;   Duchenne-Becker muscular dystrophy;   childhood pseudohypertrophic muscular dystrophy;   muscular dystrophy, Duchenne and Becker types;   muscular dystrophy, Duchenne type;   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
 xref: EFO:0000429;   GARD:6291;   MONDO:0010679;   NCI:C75482
For additional species annotation, visit the Alliance of Genome Resources.


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Duchenne muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap6 A kinase anchor protein 6 IEP mRNA:decreased expression:heart RGD PMID:14511675 RGD:14349026 NCBI chr12:52,745,371...53,202,351
Ensembl chr12:52,746,166...53,202,382 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21641384 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279 		JBrowse link
G Cd4 CD4 antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:21641384 NCBI chr 6:124,841,656...124,865,210
Ensembl chr 6:124,841,655...124,865,184 		JBrowse link
G Ctss cathepsin S IAGP OMIM:310200 MouseDO NCBI chr 3:95,434,097...95,463,716
Ensembl chr 3:95,434,097...95,463,714 		JBrowse link
G Dag1 dystroglycan 1 ISO protein:increased degradation:skeletal muscle
protein:decreased expression:skeletal muscle		 RGD PMID:15833425 PMID:11445638 PMID:7630355 RGD:11073211, RGD:11537476, RGD:11552581 NCBI chr 9:108,082,060...108,141,176
Ensembl chr 9:108,081,833...108,141,157 		JBrowse link
G Dcaf8l DDB1 and CUL4 associated factor 8 like ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:22510846 PMID:23453023 PMID:24504883 PMID:28492532 NCBI chr  X:88,447,454...88,453,295
Ensembl chr  X:88,447,454...88,453,295 		JBrowse link
G Dmd dystrophin, muscular dystrophy treatment ISO
IGI
IMP
IAGP		 mRNA:decreased stability:muscle
OMIM:310200
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Duchenne muscular dystrophy | ClinVar Annotator: match by term: Intermediate muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy, pseudohypertrophic progressive, Duchenne type | ClinVar Annotator: match by term: X-linked DMD-related dystrophinopathy
ClinVar Annotator: match by term: Duchenne and Becker muscular dystrophy | ClinVar Annotator: match by term: Duchenne muscular dystrophy | ClinVar Annotator: match by term: Intermediate muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy, pseudohypertrophic progressive, Duchenne type | ClinVar Annotator: match by term: X-linked DMD-related dystrophinopathy		 OMIM
MouseDO
CTD
ClinVar
RGD		 PMID:1301174 PMID:1301934 PMID:1307253 PMID:1363782 PMID:1383546 More... RGD:1580859, RGD:737706, RGD:12879862, RGD:11040981, RGD:12880007, RGD:12880014, RGD:12880034 NCBI chr  X:81,858,244...84,248,656
Ensembl chr  X:81,992,476...84,249,747 		JBrowse link
G Fthl17a ferritin, heavy polypeptide-like 17, member A ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 More... NCBI chr  X:84,293,283...84,313,897
Ensembl chr  X:84,293,285...84,313,894 		JBrowse link
G Gk glycerol kinase ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 More... NCBI chr  X:84,745,543...84,820,425
Ensembl chr  X:84,745,543...84,820,425 		JBrowse link
G Il1rapl1 interleukin 1 receptor accessory protein-like 1 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 More... NCBI chr  X:85,784,543...87,159,554
Ensembl chr  X:85,784,476...87,159,251 		JBrowse link
G Itga7 integrin alpha 7 treatment ISO RGD PMID:23319059 RGD:13601981 NCBI chr10:128,769,633...128,794,155
Ensembl chr10:128,769,645...128,794,155 		JBrowse link
G Mageb4 MAGE family member B4 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 More... NCBI chr  X:85,293,862...85,299,825
Ensembl chr  X:85,293,860...85,348,699 		JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment IMP RGD PMID:23977226 RGD:13204809 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G Nos1 nitric oxide synthase 1, neuronal ISO RGD PMID:9542584 RGD:13825135 NCBI chr 5:118,004,904...118,096,905
Ensembl chr 5:117,919,097...118,096,905 		JBrowse link
G Nr0b1 nuclear receptor subfamily 0, group B, member 1 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 More... NCBI chr  X:85,235,381...85,239,553
Ensembl chr  X:85,235,370...85,239,553 		JBrowse link
G Nscme3l NSE3 homolog, SMC5-SMC6 complex component like ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:22510846 PMID:23453023 PMID:24504883 PMID:28492532 NCBI chr19:5,552,795...5,553,815
Ensembl chr19:5,552,795...5,553,815 		JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:20400443 PMID:21378009 PMID:23861362 PMID:24033266 PMID:25650408 More... NCBI chr16:16,031,209...16,090,576
Ensembl chr16:16,031,182...16,090,576 		JBrowse link
G Pla2g6 phospholipase A2, group VI ISO RGD PMID:22934738 RGD:12910703 NCBI chr15:79,170,428...79,212,915
Ensembl chr15:79,170,428...79,212,590 		JBrowse link
G Postn periostin, osteoblast specific factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21641384 NCBI chr 3:54,266,688...54,298,462
Ensembl chr 3:54,268,530...54,298,458 		JBrowse link
G Snta1 syntrophin, acidic 1 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:154,218,234...154,250,004
Ensembl chr 2:154,218,233...154,250,019 		JBrowse link
G Stx1b syntaxin 1B IEP RGD PMID:26604869 RGD:12903957 NCBI chr 7:127,403,072...127,423,703
Ensembl chr 7:127,403,072...127,423,721 		JBrowse link
G Stxbp1 syntaxin binding protein 1 IEP RGD PMID:26604869 RGD:12903957 NCBI chr 2:32,677,619...32,737,249
Ensembl chr 2:32,677,614...32,737,257 		JBrowse link
G Tab3 TGF-beta activated kinase 1/MAP3K7 binding protein 3 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 More... NCBI chr  X:84,617,466...84,678,075
Ensembl chr  X:84,617,628...84,678,075 		JBrowse link
G Tasl TLR adaptor interacting with endolysosomal SLC15A4 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:12632325 PMID:19937601 PMID:22510846 PMID:23453023 PMID:24302611 More... NCBI chr  X:84,820,445...84,935,105
Ensembl chr  X:84,913,960...84,935,105 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21641384 NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502 		JBrowse link
G Timp2 tissue inhibitor of metalloproteinase 2 ISO RGD PMID:15616792 RGD:1580161 NCBI chr11:118,191,887...118,246,237
Ensembl chr11:118,191,887...118,246,566 		JBrowse link
G Utrn utrophin IGI
ISO		 ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar
RGD		 PMID:25741868 PMID:9288751 RGD:737706 NCBI chr10:12,257,931...12,745,632
Ensembl chr10:12,257,932...12,745,109 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16109
    disease of anatomical entity 15665
      musculoskeletal system disease 7969
        muscular disease 2174
          muscle tissue disease 1319
            myopathy 1034
              muscular dystrophy 603
                Duchenne muscular dystrophy 27
                  Duchenne Muscular Dystrophy, Mental Retardation, and Absence of ERG B-wave 0
Path 2
Term Annotations click to browse term
  disease 16109
    disease of anatomical entity 15665
      nervous system disease 13531
        peripheral nervous system disease 4128
          neuropathy 3927
            neuromuscular disease 3085
              muscular disease 2174
                muscle tissue disease 1319
                  myopathy 1034
                    muscular dystrophy 603
                      Duchenne muscular dystrophy 27
                        Duchenne Muscular Dystrophy, Mental Retardation, and Absence of ERG B-wave 0
paths to the root