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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:torsion dystonia 6
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Accession:DOID:0090039 term browser browse the term
Definition:A generalized dystonia that is characterized by early-onset generalised dystonia typically involing the craniocervical region with spasmodic dysphonia that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the THAP domain containing 1 gene (THAP1) on chromosome 8p11. (DO)
Synonyms:exact_synonym: DYT6;   Torsion dystonia adult onset mixed type
 primary_id: MESH:C538003
 alt_id: OMIM:602629
 xref: NCI:C156361;   ORDO:98806
For additional species annotation, visit the Alliance of Genome Resources.

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torsion dystonia 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thap1 THAP domain containing 1 ISO ClinVar Annotator: match by OMIM:602629
ClinVar Annotator: match by null
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dystonia 6, torsion
ClinVar Annotator: match by term: Torsion dystonia 6		 OMIM
ClinVar
CTD		 PMID:19182804 PMID:19345147 PMID:19345148 PMID:19908320 PMID:20083799 PMID:20211909 PMID:20669277 PMID:20687191 PMID:20865765 PMID:21495072 PMID:21520283 PMID:21782490 PMID:21839475 PMID:21847143 PMID:22377579 PMID:22844099 PMID:22903657 PMID:23036512 PMID:24500857 PMID:24936516 PMID:24976531 PMID:25088175 PMID:25741868 PMID:26087139 PMID:26467025 PMID:26486352 PMID:26610312 PMID:27123488 PMID:28492532 PMID:28697333 PMID:29520331 NCBI chr16:70,661,360...70,665,831
Ensembl chr16:70,661,320...70,665,831 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    Developmental Disease 10897
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9431
        genetic disease 8941
          Nervous System Heredodegenerative Disorders 2104
            Dystonia Musculorum Deformans 4
              torsion dystonia 6 1
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      nervous system disease 12074
        central nervous system disease 10353
          brain disease 9712
            movement disease 1353
              Dyskinesias 1020
                dystonia 187
                  generalized dystonia 6
                    Dystonia Musculorum Deformans 4
                      torsion dystonia 6 1
paths to the root