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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: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;   DYSTROPHINOPATHIES;   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.


show annotations for term's descendants           Sort by:
 
Duchenne muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap6 A-kinase anchoring protein 6 ISO mRNA:decreased expression:heart RGD PMID:14511675 RGD:14349026 NCBI chr 6:73,553,111...73,991,992
Ensembl chr 6:73,553,210...73,990,534
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21641384 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Cd4 Cd4 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21641384 NCBI chr 4:157,381,862...157,408,357
Ensembl chr 4:157,383,052...157,408,176
JBrowse link
G Ctss cathepsin S ISS OMIM:310200 MouseDO NCBI chr 2:197,655,780...197,679,768
Ensembl chr 2:197,655,786...197,679,458
JBrowse link
G Dag1 dystroglycan 1 ISO protein:increased degradation:skeletal muscle
protein:decreased expression:skeletal muscle
RGD PMID:15833425, PMID:7630355, PMID:11445638 RGD:11073211, RGD:11552581, RGD:11537476 NCBI chr 8:116,980,501...116,993,182
Ensembl chr 8:116,980,497...116,993,193
JBrowse link
G Dmd dystrophin treatment ISO
IMP
ClinVar Annotator: match by term: Duchenne muscular dystrophy
ClinVar Annotator: match by term: Dystrophinopathies
ClinVar Annotator: match by term: Muscular dystrophy, pseudohypertrophic progressive, Duchenne type
ClinVar Annotator: match by term: X-linked DMD-related dystrophinopathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dilated cardiomyopathy 3B
mRNA:decreased stability:muscle
ClinVar Annotator: match by term: Intermediate muscular dystrophy
ClinVar Annotator: match by OMIM:310200
ClinVar Annotator: match by OMIM:300376
ClinVar
CTD
OMIM
PMID:1301174 PMID:1301934 PMID:1307253 PMID:1363782 PMID:1383546 PMID:1483053 PMID:1496988 PMID:1513469 PMID:1549596 PMID:1601417 PMID:1864612 PMID:1868831 PMID:1889805 PMID:2040695 PMID:2063877 PMID:2071150 PMID:2136098 PMID:2261642 PMID:2316519 PMID:2354438 PMID:2383276 PMID:2573997 PMID:2585468 PMID:2691353 PMID:7041906 PMID:7581396 PMID:7599634 PMID:7599638 PMID:7611292 PMID:7649554 PMID:7668256 PMID:7747792 PMID:7825571 PMID:7825572 PMID:7849724 PMID:7853367 PMID:7881286 PMID:7951251 PMID:7951253 PMID:7981590 PMID:7981690 PMID:8034300 PMID:8149204 PMID:8160755 PMID:8199594 PMID:8281150 PMID:8301652 PMID:8317478 PMID:8353493 PMID:8361506 PMID:8364587 PMID:8401539 PMID:8401582 PMID:8413368 PMID:8423832 PMID:8499922 PMID:8533818 PMID:8543940 PMID:8784808 PMID:8789442 PMID:8840119 PMID:9007319 PMID:9028449 PMID:9040743 PMID:9067763 PMID:9073314 PMID:9143930 PMID:9170407 PMID:9195228 PMID:9225508 PMID:9298822 PMID:9441825 PMID:9470882 PMID:9544849 PMID:9619643 PMID:9628192 PMID:9760747 PMID:9800909 PMID:10094565 PMID:10196701 PMID:10320864 PMID:10392746 PMID:10407857 PMID:10464635 PMID:10480348 PMID:10533061 PMID:10541573 PMID:10612827 PMID:10832829 PMID:10841222 PMID:10909857 PMID:10939566 PMID:11039581 PMID:11185740 PMID:11257468 PMID:11381192 PMID:11388892 PMID:11409318 PMID:11409421 PMID:11524473 PMID:11710958 PMID:12111668 PMID:12233050 PMID:12324874 PMID:12354438 PMID:12359139 PMID:12398835 PMID:12467752 PMID:12632325 PMID:12673664 PMID:12674656 PMID:12754415 PMID:12754707 PMID:12920092 PMID:12966700 PMID:13679720 PMID:14571009 PMID:14652441 PMID:14659407 PMID:14695533 PMID:14751810 PMID:14973546 PMID:14977063 PMID:15038390 PMID:15253946 PMID:15319032 PMID:15351422 PMID:15637982 PMID:15643612 PMID:15655674 PMID:15684864 PMID:15723292 PMID:15841391 PMID:15845029 PMID:15952989 PMID:15976104 PMID:16030524 PMID:16049303 PMID:16077730 PMID:16122626 PMID:16331671 PMID:16439068 PMID:16566881 PMID:16770791 PMID:16834926 PMID:16883524 PMID:16917894 PMID:16950195 PMID:17024373 PMID:17041906 PMID:17124406 PMID:17141273 PMID:17145200 PMID:17253928 PMID:17259292 PMID:17435279 PMID:17561468 PMID:17726484 PMID:17854090 PMID:17880784 PMID:17952667 PMID:18055393 PMID:18059005 PMID:18261911 PMID:18348289 PMID:18353051 PMID:18403565 PMID:18445268 PMID:18583217 PMID:18646563 PMID:18652600 PMID:18653336 PMID:18663755 PMID:18683213 PMID:18752307 PMID:18853462 PMID:18974567 PMID:19001018 PMID:19040728 PMID:19073314 PMID:19074751 PMID:19084397 PMID:19158079 PMID:19206170 PMID:19230662 PMID:19309154 PMID:19367636 PMID:19409785 PMID:19449031 PMID:19461958 PMID:19475718 PMID:19530190 PMID:19602481 PMID:19760747 PMID:19763152 PMID:19783145 PMID:19793655 PMID:19823873 PMID:19835634 PMID:19837995 PMID:19907931 PMID:19937601 PMID:19959795 PMID:20031633 PMID:20036901 PMID:20098710 PMID:20153965 PMID:20307669 PMID:20381484 PMID:20457930 PMID:20485447 PMID:20630757 PMID:20683981 PMID:20696926 PMID:20847377 PMID:20944443 PMID:21104870 PMID:21150048 PMID:21228398 PMID:21273767 PMID:21396098 PMID:21399986 PMID:21515508 PMID:21520333 PMID:21525508 PMID:21815800 PMID:21851881 PMID:21896784 PMID:21969337 PMID:21972111 PMID:22090376 PMID:22092019 PMID:22102647 PMID:22161109 PMID:22223181 PMID:22234188 PMID:22234189 PMID:22379338 PMID:22406018 PMID:22510846 PMID:22678781 PMID:22776072 PMID:22894145 PMID:22910583 PMID:22980762 PMID:23251671 PMID:23276443 PMID:23297412 PMID:23299917 PMID:23299919 PMID:23352160 PMID:23438214 PMID:23453023 PMID:23536893 PMID:23667215 PMID:23695957 PMID:23756440 PMID:23757202 PMID:23818053 PMID:23829870 PMID:23871722 PMID:23914114 PMID:24033266 PMID:24055113 PMID:24099565 PMID:24217213 PMID:24265581 PMID:24292997 PMID:24300647 PMID:24302611 PMID:24349043 PMID:24349052 PMID:24558114 PMID:24690944 PMID:24770780 PMID:24835530 PMID:24871807 PMID:24892813 PMID:24928015 PMID:25007885 PMID:25056178 PMID:25076844 PMID:25108525 PMID:25163546 PMID:25231023 PMID:25244321 PMID:25326637 PMID:25333069 PMID:25348330 PMID:25353622 PMID:25434822 PMID:25447171 PMID:25474345 PMID:25482253 PMID:25525159 PMID:25612904 PMID:25614876 PMID:25636106 PMID:25637381 PMID:25741868 PMID:25972034 PMID:26081009 PMID:26110187 PMID:26140716 PMID:26260725 PMID:26284620 PMID:26455815 PMID:26467025 PMID:26594346 PMID:26676145 PMID:26718981 PMID:26740235 PMID:26743743 PMID:26745801 PMID:26836830 PMID:26911353 PMID:26930420 PMID:26934379 PMID:26968818 PMID:26990548 PMID:27122458 PMID:27206868 PMID:27263301 PMID:27350676 PMID:27363342 PMID:27425820 PMID:27515321 PMID:27593222 PMID:27708273 PMID:27750387 PMID:27854212 PMID:27854218 PMID:27930565 PMID:28100912 PMID:28116794 PMID:28181471 PMID:28181689 PMID:28247318 PMID:28318817 PMID:28407826 PMID:28416588 PMID:28492532 PMID:28503591 PMID:28526893 PMID:28610567 PMID:28701297 PMID:28750076 PMID:28798025 PMID:28859693 PMID:28878337 PMID:28878402 PMID:29246534 PMID:29304097 PMID:29404407 PMID:29511324 PMID:29581631 PMID:29604111 PMID:29631625 PMID:29641567 PMID:29792937 PMID:29847600 PMID:29901616 PMID:29973226 PMID:30086531 PMID:30311386 PMID:30342905 PMID:30415094 PMID:30564623 PMID:30816495 PMID:30833962 PMID:31081998 PMID:31139960 PMID:31333075 PMID:31412794 PMID:31568572 PMID:31645977 PMID:31705731 PMID:31727011 PMID:32488064 PMID:32860008, PMID:3055295, PMID:25310701, PMID:22810924, PMID:24010700, PMID:25005781, PMID:23975932, PMID:9288751 RGD:1580859, RGD:12880034, RGD:12880014, RGD:12880007, RGD:11040981, RGD:12879862, RGD:737706 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259
JBrowse link
G Dmdem1Ang dystrophin; TALEN-induced mutant1, Ang IMP RGD PMID:25310701 RGD:12880034
G Dmdem1Kykn dystrophin; CRISPR/Cas9 system induced mutant 1, Keitaro Yamanouchi IMP RGD PMID:25005781 RGD:11040981
G Itga7 integrin subunit alpha 7 treatment ISO RGD PMID:23319059 RGD:13601981 NCBI chr 7:3,355,079...3,383,886
Ensembl chr 7:3,355,116...3,384,675
JBrowse link
G Mlh1 mutL homolog 1 ISO ClinVar Annotator: match by term: Muscular dystrophy, pseudohypertrophic progressive, Duchenne type ClinVar PMID:25503501 PMID:25741868 PMID:26845104 PMID:28259476 PMID:28492532 NCBI chr 8:119,486,655...119,523,716
Ensembl chr 8:119,486,691...119,523,964
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:23977226 RGD:13204809 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Nos1 nitric oxide synthase 1 ISO RGD PMID:9542584 RGD:13825135 NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
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 PMID:25676813 PMID:25741868 PMID:27930701 PMID:28166282 PMID:28492532 NCBI chr11:88,912,163...88,972,213 JBrowse link
G Pla2g6 phospholipase A2 group VI ISO RGD PMID:22934738 RGD:12910703 NCBI chr 7:120,519,479...120,559,716
Ensembl chr 7:120,519,467...120,559,347
JBrowse link
G Postn periostin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21641384 NCBI chr 2:143,656,820...143,688,087
Ensembl chr 2:143,656,793...143,688,087
JBrowse link
G Snta1 syntrophin, alpha 1 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy ClinVar PMID:25741868 NCBI chr 3:149,874,023...149,905,980
Ensembl chr 3:149,874,030...149,905,944
JBrowse link
G Stx1b syntaxin 1B ISO RGD PMID:26604869 RGD:12903957 NCBI chr 1:199,251,842...199,270,465
Ensembl chr 1:199,251,844...199,270,627
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO RGD PMID:26604869 RGD:12903957 NCBI chr 3:11,823,779...11,885,479
Ensembl chr 3:11,823,785...11,885,417
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21641384 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO RGD PMID:15616792 RGD:1580161 NCBI chr10:107,338,465...107,386,072
Ensembl chr10:107,338,465...107,386,072
JBrowse link
G Utrn utrophin ISO RGD PMID:9288751 RGD:737706 NCBI chr 1:6,451,809...6,970,040
Ensembl chr 1:6,451,810...6,970,040
JBrowse link
Benign Pseudohypertrophic Muscular Dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmd dystrophin ISO ClinVar Annotator: match by term: Benign pseudohypertrophic muscular dystrophy ClinVar PMID:7881286 PMID:17259292 PMID:19937601 PMID:23757202 PMID:24033266 PMID:25447171 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Benign pseudohypertrophic muscular dystrophy ClinVar PMID:20400443 PMID:21378009 PMID:23861362 PMID:24033266 PMID:25650408 PMID:25676813 PMID:25741868 PMID:27930701 PMID:28166282 PMID:28492532 NCBI chr11:88,912,163...88,972,213 JBrowse link
G Snta1 syntrophin, alpha 1 ISO ClinVar Annotator: match by term: Benign pseudohypertrophic muscular dystrophy ClinVar PMID:25741868 NCBI chr 3:149,874,023...149,905,980
Ensembl chr 3:149,874,030...149,905,944
JBrowse link
Duchenne Muscular Dystrophy, Mental Retardation, and Absence of ERG B-wave term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmd dystrophin ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy, mental retardation, and absence of erg b-wave ClinVar PMID:8817332 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      musculoskeletal system disease 5799
        muscular disease 1218
          atrophic muscular disease 332
            muscular dystrophy 330
              Duchenne muscular dystrophy 23
                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 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        peripheral nervous system disease 2498
          neuropathy 2319
            neuromuscular disease 1802
              muscular disease 1218
                muscle tissue disease 829
                  atrophic muscular disease 332
                    muscular dystrophy 330
                      Duchenne muscular dystrophy 23
                        Benign Pseudohypertrophic Muscular Dystrophy 3
                        Duchenne Muscular Dystrophy, Mental Retardation, and Absence of ERG B-wave 1
paths to the root