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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: MIM:PS603511;   ORDO:102014

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autosomal dominant limb-girdle muscular dystrophy 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: Muscular dystrophy, limb-girdle, autosomal dominant ClinVar PMID:23543484 PMID:23667635 PMID:25741868 PMID:28492532 PMID:31071488 More... NCBI chrNW_004624783:7,168,865...7,261,008
Ensembl chrNW_004624783:7,168,867...7,261,261 		JBrowse link
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: Emery-Dreifuss muscular dystrophy 2, autosomal dominant | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1B | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1B | 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: MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1B | ClinVar Annotator: match by term: Muscular dystrophy, proximal, type 1B | ClinVar Annotator: match by term: SCAPULOILIOPERONEAL ATROPHY WITH CARDIOPATHY 		OMIM
ClinVar		 PMID:262236 PMID:1849984 PMID:2007407 PMID:2338570 PMID:2526018 More... NCBI chrNW_004624885:1,423,563...1,466,657
Ensembl chrNW_004624885:1,447,395...1,467,554 		JBrowse link
G Syne2 spectrin repeat containing nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 2, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004624734:36,832,490...37,167,438 JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 2, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004624872:1,467,531...1,481,057
Ensembl chrNW_004624872:1,467,440...1,481,044 		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: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1D | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal dominant 1 OMIM
ClinVar		 PMID:8533766 PMID:9536098 PMID:9973293 PMID:10489050 PMID:16199547 More... NCBI chrNW_004624800:1,174,703...1,234,661
Ensembl chrNW_004624800:1,175,679...1,234,951 		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 Atp6v1f ATPase H+ transporting V1 subunit F ISO ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F ClinVar PMID:28492532 NCBI chrNW_004624783:7,328,113...7,331,648
Ensembl chrNW_004624783:7,328,113...7,331,666 		JBrowse link
G Calu calumenin ISO ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F ClinVar PMID:28492532 NCBI chrNW_004624783:7,417,505...7,448,711 JBrowse link
G Ccdc136 coiled-coil domain containing 136 ISO ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F ClinVar PMID:28492532 NCBI chrNW_004624783:7,367,377...7,398,632 JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F ClinVar PMID:28492532 NCBI chrNW_004624783:7,334,421...7,360,795
Ensembl chrNW_004624783:7,334,312...7,361,134 		JBrowse link
G Irf5 interferon regulatory factor 5 ISO ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F ClinVar PMID:28492532 NCBI chrNW_004624783:7,267,680...7,275,918
Ensembl chrNW_004624783:7,260,005...7,274,433 		JBrowse link
G Kcp kielin cysteine rich BMP regulator ISO ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F ClinVar PMID:28492532 NCBI chrNW_004624783:7,290,663...7,316,866 JBrowse link
G Opn1sw opsin 1, short wave sensitive ISO ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F ClinVar PMID:28492532 NCBI chrNW_004624783:7,412,825...7,416,209
Ensembl chrNW_004624783:7,412,825...7,416,095 		JBrowse link
G Tnpo3 transportin 3 ISO ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1F OMIM
ClinVar		 PMID:9536098 PMID:11222786 PMID:16199547 PMID:17576681 PMID:23543484 More... NCBI chrNW_004624783:7,168,865...7,261,008
Ensembl chrNW_004624783:7,168,867...7,261,261 		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 term: Autosomal dominant limb-girdle muscular dystrophy type 1G | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1G OMIM
ClinVar		 PMID:9536098 PMID:15367920 PMID:17576681 PMID:24647604 PMID:25741868 More... NCBI chrNW_004624757:8,488,619...8,495,498
Ensembl chrNW_004624757:8,488,365...8,495,822 		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: CAPN3-related disorder | 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:2725975 PMID:3258171 PMID:7318636 PMID:7720071 PMID:7762565 More... NCBI chrNW_004624804:9,473,075...9,512,643
Ensembl chrNW_004624804:9,473,117...9,512,353 		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 term: Myofibrillar myopathy 3 | ClinVar Annotator: match by term: Urinary bladder sphincter dysfunction OMIM
ClinVar		 PMID:571956 PMID:1598902 PMID:3275904 PMID:9027924 PMID:9536098 More... NCBI chrNW_004624733:9,131,051...9,160,813
Ensembl chrNW_004624733:9,130,399...9,160,908 		JBrowse link
G Pkd2l2 polycystin 2 like 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: Myofibrillar myopathy 3 ClinVar PMID:18321925 PMID:39757377 NCBI chrNW_004624743:30,743,052...30,770,985
Ensembl chrNW_004624743:30,743,052...30,771,305 		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: Limb-girdle muscular dystrophy, type 1C | ClinVar Annotator: match by term: Rippling muscle disease 2 | ClinVar Annotator: match by term: Rippling muscle disease 2, autosomal recessive OMIM
ClinVar		 PMID:1146501 PMID:2705900 PMID:09536092 PMID:9536098 PMID:09537420 More... NCBI chrNW_004624731:3,348,172...3,363,772
Ensembl chrNW_004624731:3,347,984...3,364,581 		JBrowse link
G Oxtr oxytocin receptor ISO ClinVar Annotator: match by term: Caveolinopathy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1C | ClinVar Annotator: match by term: Rippling muscle disease 2 | ClinVar Annotator: match by term: Rippling muscle disease 2, autosomal recessive ClinVar PMID:1146501 PMID:2705900 PMID:09536092 PMID:09537420 PMID:10227634 More... NCBI chrNW_004624731:3,367,645...3,384,815
Ensembl chrNW_004624731:3,370,701...3,385,640 		JBrowse link
G Ssuh2 ssu-2 homolog ISO ClinVar Annotator: match by term: Rippling muscle disease 2 ClinVar PMID:10227634 PMID:10746614 PMID:11353417 PMID:11431690 PMID:11756609 More... NCBI chrNW_004624731:3,265,644...3,289,618
Ensembl chrNW_004624731:3,258,226...3,288,523 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14234
    Developmental Disease 12524
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11800
        genetic disease 11525
          monogenic disease 9924
            autosomal genetic disease 9533
              autosomal dominant disease 6230
                autosomal dominant limb-girdle muscular dystrophy 19
                  Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 4 1
                  autosomal dominant Emery-Dreifuss muscular dystrophy 2 3
                  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 8
                  autosomal dominant limb-girdle muscular dystrophy type 3 1
                  myofibrillar myopathy 3 2
                  rippling muscle disease 2 3
Path 2
Term Annotations click to browse term
  disease 14234
    disease of anatomical entity 13936
      nervous system disease 12272
        peripheral nervous system disease 4087
          neuropathy 3909
            neuromuscular disease 3011
              muscular disease 2085
                muscle tissue disease 1256
                  myopathy 962
                    muscular dystrophy 603
                      limb-girdle muscular dystrophy 222
                        autosomal dominant limb-girdle muscular dystrophy 19
                          Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 4 1
                          autosomal dominant Emery-Dreifuss muscular dystrophy 2 3
                          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 8
                          autosomal dominant limb-girdle muscular dystrophy type 3 1
                          myofibrillar myopathy 3 2
                          rippling muscle disease 2 3
paths to the root