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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:autosomal dominant limb-girdle muscular dystrophy
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Accession:DOID:0110273 term browser browse the term
Definition:A limb-girdle muscular dystrophy that has_material_basis_in autosomal dominant inheritance. (DO)
Synonyms:xref: OMIM:PS603511;   ORDO:102014
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal dominant Emery-Dreifuss muscular dystrophy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 2, autosomal dominant
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1B
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1B
ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT
DNA:frameshift mutation:cds:c.625_626delA (human)
DNA:deletion, missense mutation, snp:cds, intron:p.K208del, p.R377H, g.IVS9+5G>C (human)
DNA:missense mutations, nonsense mutation:cds:multiple (human)
ClinVar
OMIM
PMID:1839274 PMID:1849984 PMID:2280636 PMID:8619549 PMID:9106535 PMID:10080180 PMID:10612827 PMID:10655060 PMID:10662742 PMID:10739764 PMID:10814726 PMID:10939567 PMID:11138304 PMID:11503164 PMID:11561226 PMID:11731280 PMID:11792809 PMID:11901143 PMID:12032588 PMID:12057196 PMID:12075506 PMID:12196663 PMID:12628721 PMID:12629077 PMID:12649505 PMID:12673789 PMID:12748643 PMID:12920062 PMID:12927431 PMID:14597414 PMID:14615128 PMID:14627682 PMID:14659775 PMID:14684700 PMID:14749366 PMID:15053843 PMID:15140538 PMID:15148145 PMID:15372542 PMID:15475483 PMID:15668447 PMID:15744034 PMID:15998779 PMID:16174718 PMID:16218190 PMID:16386954 PMID:16440304 PMID:16772334 PMID:17136397 PMID:17274801 PMID:17377071 PMID:18035086 PMID:18396274 PMID:18414213 PMID:18549403 PMID:18551513 PMID:18551515 PMID:18564364 PMID:18604166 PMID:18646565 PMID:18795223 PMID:19084400 PMID:19318026 PMID:19424285 PMID:19427440 PMID:19432833 PMID:19524666 PMID:19589617 PMID:19638735 PMID:19680556 PMID:19882644 PMID:19933576 PMID:20301609 PMID:20376791 PMID:20498703 PMID:20848652 PMID:20886652 PMID:20980393 PMID:21173262 PMID:21315846 PMID:21465660 PMID:21520333 PMID:21535365 PMID:21632249 PMID:21840938 PMID:22224630 PMID:22266370 PMID:22326558 PMID:22431096 PMID:22464770 PMID:22883396 PMID:22918509 PMID:23077635 PMID:23183350 PMID:23328570 PMID:23349452 PMID:23362510 PMID:23427149 PMID:23497705 PMID:23853504 PMID:23861362 PMID:24001739 PMID:24033266 PMID:24055113 PMID:24237251 PMID:24349489 PMID:24375749 PMID:24503780 PMID:24508248 PMID:24642510 PMID:24656463 PMID:24721642 PMID:24768879 PMID:24806962 PMID:24846508 PMID:24990833 PMID:25214167 PMID:25286833 PMID:25324471 PMID:25326637 PMID:25637381 PMID:25741868 PMID:25823658 PMID:25948554 PMID:25982065 PMID:25987458 PMID:26098624 PMID:26165385 PMID:26183555 PMID:26332594 PMID:26443318 PMID:26467025 PMID:26602028 PMID:26752647 PMID:27220833 PMID:27532257 PMID:27585670 PMID:27717888 PMID:27723096 PMID:27813223 PMID:27854218 PMID:27896052 PMID:27919367 PMID:28074886 PMID:28255936 PMID:28492532 PMID:28531892 PMID:28663758 PMID:28679633 PMID:28785654 PMID:29040816 PMID:29057633 PMID:29149195 PMID:29237675 PMID:29676528 PMID:29753763 PMID:29791652 PMID:29893365 PMID:30055862 PMID:30165862, PMID:17446932, PMID:17701980, PMID:10814726, PMID:10080180 RGD:2306094, RGD:12791273, RGD:11062274, RGD:12791020 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
autosomal dominant limb-girdle muscular dystrophy type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1E
ClinVar Annotator: match by OMIM:603511
OMIM
ClinVar
PMID:9536098 PMID:9973293 PMID:10489050 PMID:17576681 PMID:20682716 PMID:21376592 PMID:22334415 PMID:22366786 PMID:24033266 PMID:24594375 PMID:24920671 PMID:25741868 PMID:26205529 PMID:26371419 PMID:26467025 PMID:26847086 PMID:27642634 PMID:27671536 PMID:28166811 PMID:28233300 PMID:28422763 PMID:28492532 PMID:28794355 PMID:29970176 PMID:30564623 NCBI chr 4:2,711,329...2,774,969
Ensembl chr 4:2,711,385...2,774,890
JBrowse link
autosomal dominant limb-girdle muscular dystrophy type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnpo3 transportin 3 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1F OMIM
ClinVar
PMID:9536098 PMID:11222786 PMID:17576681 PMID:23543484 PMID:23667635 PMID:25741868 PMID:28492532 PMID:31071488 PMID:31217819 NCBI chr 4:56,820,023...56,897,310
Ensembl chr 4:56,820,023...56,897,338
JBrowse link
autosomal dominant limb-girdle muscular dystrophy type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnrnpdl heterogeneous nuclear ribonucleoprotein D-like ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1G
OMIM
ClinVar
PMID:15367920 PMID:24647604 PMID:25741868 PMID:28492532 NCBI chr14:11,199,114...11,204,670
Ensembl chr14:11,198,896...11,202,669
JBrowse link
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Capn3 calpain 3 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1I
ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal dominant 4
OMIM
ClinVar
PMID:7720071 PMID:8624690 PMID:9150160 PMID:9266733 PMID:9642272 PMID:9762961 PMID:9777948 PMID:10102422 PMID:10330340 PMID:10679950 PMID:11371436 PMID:12461690 PMID:14578192 PMID:14981715 PMID:15221789 PMID:15351423 PMID:15689361 PMID:15725583 PMID:15733273 PMID:16100770 PMID:16141003 PMID:16372320 PMID:16411092 PMID:16542520 PMID:16627476 PMID:16650086 PMID:16971480 PMID:17157502 PMID:17236769 PMID:17318636 PMID:17702496 PMID:17994539 PMID:18055493 PMID:18414213 PMID:18563459 PMID:18854869 PMID:19015733 PMID:19156839 PMID:19226146 PMID:19556129 PMID:20517216 PMID:20635405 PMID:21204801 PMID:21984748 PMID:22006685 PMID:22378277 PMID:22443334 PMID:24033266 PMID:25079074 PMID:25135358 PMID:25252031 PMID:25512505 PMID:25741868 PMID:26404900 PMID:26467025 PMID:26632398 PMID:26886200 PMID:27020652 PMID:27055500 PMID:27066545 PMID:27142102 PMID:27259757 PMID:27558075 PMID:27708273 PMID:28403181 PMID:28492532 PMID:28602176 PMID:28881388 PMID:30028523 PMID:30919934 NCBI chr 3:112,227,486...112,278,408
Ensembl chr 3:112,228,720...112,278,408
JBrowse link
myofibrillar myopathy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myot myotilin ISO ClinVar Annotator: match by OMIM:609200
ClinVar Annotator: match by term: Myofibrillar myopathy 3
ClinVar Annotator: match by term: Urinary bladder sphincter dysfunction
ClinVar Annotator: match by term: Myotilinopathy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:1598902 PMID:3275904 PMID:9027924 PMID:9536098 PMID:10958653 PMID:12428213 PMID:15111675 PMID:15947064 PMID:16684602 PMID:16793270 PMID:16801328 PMID:17221859 PMID:17576681 PMID:18335471 PMID:18653338 PMID:19225410 PMID:19240791 PMID:19590214 PMID:20981092 PMID:21336781 PMID:21361873 PMID:21676617 PMID:22021208 PMID:22349301 PMID:22995991 PMID:24033266 PMID:24781192 PMID:24928145 PMID:25208129 PMID:25617006 PMID:25741868 PMID:26257771 PMID:26342832 PMID:26467025 PMID:26842778 PMID:27854214 PMID:27884173 PMID:28166811 PMID:28492532 PMID:30055862 PMID:31404076 NCBI chr18:35,573,978...35,593,541
Ensembl chr18:35,574,002...35,593,541
Ensembl chr 9:35,574,002...35,593,541
JBrowse link
rippling muscle disease 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Caveolinopathy
ClinVar Annotator: match by term: Rippling muscle disease 2
ClinVar Annotator: match by term: Rippling muscle disease 2, autosomal recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1C
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1146501 PMID:2705900 PMID:9536092 PMID:09537420 PMID:10227634 PMID:10464299 PMID:10746614 PMID:11001938 PMID:11251997 PMID:11353417 PMID:11431690 PMID:11756609 PMID:11805270 PMID:11884389 PMID:12269726 PMID:12557291 PMID:12666119 PMID:12807393 PMID:12839838 PMID:12939441 PMID:14600260 PMID:14633633 PMID:14663034 PMID:14672715 PMID:15318349 PMID:15580566 PMID:15668980 PMID:16247063 PMID:16723230 PMID:16770780 PMID:17060380 PMID:17210839 PMID:17275750 PMID:17556197 PMID:17897828 PMID:17994539 PMID:18253147 PMID:18509671 PMID:18583131 PMID:18930476 PMID:19380584 PMID:19697367 PMID:19773168 PMID:19835634 PMID:20229577 PMID:20472890 PMID:21294223 PMID:21404291 PMID:21610159 PMID:21660982 PMID:22245016 PMID:22378279 PMID:22584458 PMID:22595201 PMID:22976939 PMID:23465283 PMID:23640888 PMID:23861362 PMID:24021552 PMID:24033266 PMID:24070816 PMID:24123366 PMID:24503780 PMID:25351510 PMID:25630502 PMID:25741868 PMID:25757662 PMID:26159999 PMID:26467025 PMID:26498160 PMID:26947586 PMID:27184587 PMID:27312022 PMID:27483260 PMID:27600940 PMID:27854218 PMID:27930701 PMID:28407228 PMID:28492532 PMID:28898996 PMID:28981925 PMID:29396561 PMID:29501670 PMID:29961767 PMID:30055862 PMID:30704477 PMID:30847666 PMID:31043699 PMID:31638414 PMID:32419263 NCBI chr 4:144,382,945...144,398,919
Ensembl chr 4:144,382,945...144,398,917
JBrowse link
G Ssuh2 ssu-2 homolog ISO ClinVar Annotator: match by term: Rippling muscle disease 2
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1C
ClinVar Annotator: match by term: Caveolinopathy
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C
ClinVar PMID:10227634 PMID:10746614 PMID:11353417 PMID:11431690 PMID:11756609 PMID:11805270 PMID:12269726 PMID:12557291 PMID:12807393 PMID:12839838 PMID:12939441 PMID:14633633 PMID:14672715 PMID:15318349 PMID:15580566 PMID:16723230 PMID:17556197 PMID:17897828 PMID:18583131 PMID:18930476 PMID:19380584 PMID:19835634 PMID:20472890 PMID:21294223 PMID:21404291 PMID:21610159 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27854218 PMID:28492532 PMID:28981925 PMID:30055862 NCBI chr 4:144,301,913...144,322,197
Ensembl chr 4:144,307,817...144,318,580
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          monogenic disease 6330
            autosomal genetic disease 5485
              autosomal dominant disease 3709
                autosomal dominant limb-girdle muscular dystrophy 8
                  Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 4 1
                  autosomal dominant Emery-Dreifuss muscular dystrophy 2 1
                  autosomal dominant limb-girdle muscular dystrophy type 1 1
                  autosomal dominant limb-girdle muscular dystrophy type 1H 0
                  autosomal dominant limb-girdle muscular dystrophy type 2 1
                  autosomal dominant limb-girdle muscular dystrophy type 3 1
                  myofibrillar myopathy 3 1
                  rippling muscle disease 2 2
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        peripheral nervous system disease 2417
          neuropathy 2229
            neuromuscular disease 1776
              muscular disease 1186
                muscle tissue disease 809
                  myopathy 645
                    muscular dystrophy 314
                      limb-girdle muscular dystrophy 147
                        autosomal dominant limb-girdle muscular dystrophy 8
                          Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 4 1
                          autosomal dominant Emery-Dreifuss muscular dystrophy 2 1
                          autosomal dominant limb-girdle muscular dystrophy type 1 1
                          autosomal dominant limb-girdle muscular dystrophy type 1H 0
                          autosomal dominant limb-girdle muscular dystrophy type 2 1
                          autosomal dominant limb-girdle muscular dystrophy type 3 1
                          myofibrillar myopathy 3 1
                          rippling muscle disease 2 2
paths to the root