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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;   MIM:606072
 xref: GARD:9164;   NCI:C148318;   NCI:C148325;   ORDO:265;   ORDO:97238


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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
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:606072
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
CTD
MouseDO
ClinVar		 PMID:1146501 PMID:2705900 PMID:09536092 PMID:9536098 PMID:09537420 More... NCBI chr 4:145,582,168...145,598,142
Ensembl chr 4:145,582,060...145,598,137 		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 chr 4:145,598,549...145,614,674
Ensembl chr 4:145,599,561...145,614,674 		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 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 19051
    Developmental Disease 14522
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13536
        genetic disease 13199
          monogenic disease 10702
            autosomal genetic disease 9874
              autosomal dominant disease 6529
                autosomal dominant limb-girdle muscular dystrophy 17
                  rippling muscle disease 2 3
Path 2
Term Annotations click to browse term
  disease 19051
    disease of anatomical entity 18384
      nervous system disease 14258
        peripheral nervous system disease 4261
          neuropathy 4047
            neuromuscular disease 3190
              muscular disease 2212
                muscle tissue disease 1347
                  atrophic muscular disease 671
                    Brody myopathy 667
                      muscular dystrophy 651
                        limb-girdle muscular dystrophy 232
                          autosomal dominant limb-girdle muscular dystrophy 17
                            rippling muscle disease 2 3
paths to the root