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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:rippling muscle disease 2
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Accession:DOID:0060255 term browser browse the term
Definition:A muscle tissue disease characterized by mechanically triggered contractions of skeletal muscle and that has_material_basis_in mutation in the caveolin-3 gene (CAV3) on chromosome 3p25. (DO)
Synonyms:exact_synonym: LGMD1C;   RMD;   RMD2;   autosomal dominant limb-girdle muscular dystrophy type 1C;   caveolinopathy;   limb-girdle muscular dystrophy due to caveolin-3 deficiency;   limb-girdle muscular dystrophy type 1C;   limb-girdle muscular dystrophy type 1C, autosomal recessive;   muscular dystrophy limb-girdle type IC
 narrow_synonym: rippling muscle disease 2, autosomal recessive
 primary_id: MESH:C563362
 alt_id: DOID:0110302;   OMIM:606072
 xref: GARD:9164;   NCI:C148318;   NCI:C148325;   ORDO:265;   ORDO:97238
For additional species annotation, visit the Alliance of Genome Resources.


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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: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C
ClinVar Annotator: match by term: Caveolinopathy
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
                  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
                          rippling muscle disease 2 2
paths to the root