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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:Scapulohumeral Muscular Dystrophy
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Accession:DOID:9006386 term browser browse the term
Synonyms:primary_id: MESH:C562932
 alt_id: OMIM:600416


show annotations for term's descendants           Sort by:
Scapulohumeral Muscular Dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Scapulohumeral muscular dystrophy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:32528171 NCBI chr 9:111,243,445...111,387,272
Ensembl chr 9:111,247,702...111,349,665 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      musculoskeletal system disease 8272
        muscular disease 2142
          muscle tissue disease 1289
            myopathy 1004
              muscular dystrophy 597
                facioscapulohumeral muscular dystrophy 20
                  Scapulohumeral Muscular Dystrophy 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        peripheral nervous system disease 4110
          neuropathy 3895
            neuromuscular disease 3052
              muscular disease 2142
                muscle tissue disease 1289
                  myopathy 1004
                    muscular dystrophy 597
                      facioscapulohumeral muscular dystrophy 20
                        Scapulohumeral Muscular Dystrophy 1
paths to the root