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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:Dysferlinopathy
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Accession:DOID:9004518 term browser browse the term
Synonyms:primary_id: MESH:C537995


show annotations for term's descendants           Sort by:
Dysferlinopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dysf dysferlin ISO ClinVar Annotator: match by term: Dysferlinopathy ClinVar PMID:1707005 PMID:2606004 PMID:2766772 PMID:8808603 PMID:9536098 More... NCBI chr 4:118,048,460...118,248,273
Ensembl chr 4:116,490,616...116,690,709 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19138
    disease of anatomical entity 18451
      musculoskeletal system disease 8462
        muscular disease 2230
          muscle tissue disease 1355
            myopathy 1047
              muscular dystrophy 655
                limb-girdle muscular dystrophy 232
                  Dysferlinopathy 1
Path 2
Term Annotations click to browse term
  disease 19138
    disease of anatomical entity 18451
      nervous system disease 14359
        peripheral nervous system disease 4387
          neuropathy 4175
            neuromuscular disease 3222
              muscular disease 2230
                muscle tissue disease 1355
                  atrophic muscular disease 675
                    Brody myopathy 671
                      muscular dystrophy 655
                        limb-girdle muscular dystrophy 232
                          Dysferlinopathy 1
paths to the root