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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:9382482, PMID:17702011, PMID:19182804, PMID:19345147, PMID:19345148, PMID:19908320, PMID:20083799, PMID:20211909, PMID:20669277, PMID:20687191, PMID:20865765, PMID:21425335, PMID:21495072, PMID:21520283, PMID:21782490, PMID:21839475, PMID:21847143, PMID:22377579, PMID:22844099, PMID:22903657, PMID:23036512, PMID:24936516, PMID:24976531, PMID:25088175, PMID:25168324, 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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          Nervous System Heredodegenerative Disorders 1950
            Dystonia Musculorum Deformans 10
              torsion dystonia 6 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            movement disease 1159
              Dyskinesias 870
                dystonia 161
                  generalized dystonia 12
                    Dystonia Musculorum Deformans 10
                      torsion dystonia 6 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.