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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:Myotonia with Skeletal Abnormalities and Mental Retardation
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Accession:DOID:9003538 term browser browse the term
Synonyms:primary_id: MESH:C564967
 alt_id: OMIM:255710
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    Developmental Disease 10589
      Neurodevelopmental Disorders 5572
        intellectual disability 3388
          Myotonia with Skeletal Abnormalities and Mental Retardation 0
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        peripheral nervous system disease 2431
          neuropathy 2235
            neuromuscular disease 1779
              muscular disease 1190
                muscle tissue disease 813
                  myopathy 649
                    muscular dystrophy 315
                      myotonic disease 20
                        myotonia congenita 10
                          Myotonia with Skeletal Abnormalities and Mental Retardation 0
paths to the root