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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



show annotations for term's descendants           Sort by:

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    Stomatognathic Diseases 1285
      mouth disease 967
        Mouth Abnormalities 166
          Congenital Contractures, Torticollis, and Malignant Hyperthermia 0
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      nervous system disease 12960
        central nervous system disease 11610
          brain disease 10899
            movement disease 2451
              Dyskinesias 2091
                dystonia 423
                  focal dystonia 10
                    cervical dystonia 3
                      Congenital Contractures, Torticollis, and Malignant Hyperthermia 0
paths to the root