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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 1
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Accession:DOID:0070308 term browser browse the term
Definition:A muscle tissue disease characterized by electrically silent contractions of the skeletal muscles in response to mechanical stimuli. It has_material_basis in mutation in the gene localized to 1q41 at the distal end of the long arm of chromosome 1, has_symptom characteristic lateral rolling movement of muscle, has_symptom muscle cramps, has_symptom muscle pain, has_symptom muscle stiffness during or following exercise. (DO)
Synonyms:exact_synonym: RMD1
 primary_id: MESH:C535686
 alt_id: OMIM:600332
For additional species annotation, visit the Alliance of Genome Resources.


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rippling muscle disease 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cav3 caveolin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11431690 PMID:15668980 PMID:16247063 PMID:21294223 PMID:30055862 NCBI chr 4:144,382,945...144,398,919
Ensembl chr 4:144,382,945...144,398,917
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      musculoskeletal system disease 5736
        muscular disease 1168
          muscle tissue disease 791
            rippling muscle disease 1 1
Path 2
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      nervous system disease 10948
        peripheral nervous system disease 2425
          neuropathy 2241
            neuromuscular disease 1763
              muscular disease 1168
                muscle tissue disease 791
                  rippling muscle disease 1 1
paths to the root