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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.



show annotations for term's descendants           Sort by:
 
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 DNA:missense mutations, nonsense mutation:cds:multiple (human)
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1B
ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 2, autosomal dominant
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1B
DNA:frameshift mutation:cds:c.625_626delA (human)
DNA:deletion, missense mutation, snp:cds, intron:p.K208del, p.R377H, g.IVS9+5G>C (human)
ClinVar
OMIM
RGD
PMID:12920062 PMID:15140538 PMID:15475483 PMID:15998779 PMID:17377071 More... RGD:12791020, RGD:2306094, RGD:12791273, RGD:11062274 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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 More... NCBI chr 4:5,452,683...5,556,679
Ensembl chr 4:5,452,683...5,556,659
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 More... NCBI chr 4:58,142,954...58,220,365
Ensembl chr 4:58,143,001...58,220,433
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: Limb-girdle muscular dystrophy, type 1G
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:9536098 PMID:15367920 PMID:17576681 PMID:24647604 PMID:25741868 More... NCBI chr14:9,558,079...9,563,654
Ensembl chr14:9,557,425...9,562,506
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, autosomal dominant 4
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1I
OMIM
ClinVar
PMID:7720071 PMID:8624690 PMID:9150160 PMID:9266733 PMID:9642272 More... NCBI chr 3:107,407,518...107,457,858
Ensembl chr 3:107,407,850...107,457,858
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 More... NCBI chr18:36,705,244...36,724,849
Ensembl chr18:36,705,314...36,724,841
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: Rippling muscle disease 2
ClinVar Annotator: match by term: Caveolinopathy
ClinVar Annotator: match by term: Rippling muscle disease 2, autosomal recessive
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1C
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1146501 PMID:2705900 PMID:9536092 PMID:09537420 PMID:10227634 More... NCBI chr 4:145,582,168...145,598,142
Ensembl chr 4:145,582,060...145,598,137
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 PMID:10227634 PMID:10746614 PMID:11353417 PMID:11431690 PMID:11756609 More... NCBI chr 4:145,502,942...145,521,881
Ensembl chr 4:145,503,185...145,521,735
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal dominant disease 4490
                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 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        peripheral nervous system disease 2565
          neuropathy 2360
            neuromuscular disease 1879
              muscular disease 1283
                muscle tissue disease 832
                  myopathy 666
                    muscular dystrophy 326
                      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