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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:Congenital Contractures, Torticollis, and Malignant Hyperthermia
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Accession:DOID:9001286 term browser browse the term
Synonyms:primary_id: MESH:C565679
 alt_id: OMIM:217150
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 16929
    Stomatognathic Diseases 980
      mouth disease 761
        Mouth Abnormalities 135
          Congenital Contractures, Torticollis, and Malignant Hyperthermia 0
Path 2
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      nervous system disease 11871
        central nervous system disease 10202
          brain disease 9574
            movement disease 1239
              Dyskinesias 906
                dystonia 183
                  focal dystonia 11
                    cervical dystonia 4
                      Congenital Contractures, Torticollis, and Malignant Hyperthermia 0
paths to the root