Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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 4
go back to main search page
Accession:DOID:0090041 term browser browse the term
Definition:A dystonia that is characterized by progressive laryngeal and cervical dystonia (onset in the second to third decade of life) followed by involvement of other muscles, such as the neck or limbs that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 4A class IVa (TUBB4A) gene on chromosome 19p13. (DO)
Synonyms:exact_synonym: DYT4;   dystonia musculorum deformans 4;   hereditary whispering dysphonia;   torsion dystonia 4, autosomal dominant;   torsion dystonia 4, autosomal dominant type
 primary_id: MESH:C536698;   MESH:C538004
 alt_id: OMIM:128101;   RDO:0002352;   RDO:0003933
 xref: ORDO:98805
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
torsion dystonia 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb4a tubulin, beta 4A class IVa ISO ClinVar Annotator: match by term: Autosomal dominant torsion dystonia 4 OMIM
ClinVar
PMID:3156966 PMID:3405308 PMID:7983175 PMID:16707859 PMID:18466252 More... NCBI chr 9:1,917,841...1,925,286
Ensembl chr 9:1,917,845...1,925,291
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Pathological Conditions, Signs and Symptoms 10289
      Signs and Symptoms 6531
        Neurologic Manifestations 5479
          Voice Disorders 4
            torsion dystonia 4 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            movement disease 1404
              Dyskinesias 1073
                dystonia 190
                  generalized dystonia 6
                    Dystonia Musculorum Deformans 4
                      torsion dystonia 4 1
paths to the root