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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 4
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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.


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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, PMID:18851904, PMID:23424103, PMID:23582646, PMID:23595291, PMID:24526230, PMID:24706558, PMID:24785942, PMID:24850488, PMID:25085639, PMID:25326635, PMID:25545912, PMID:25741868, PMID:28492532, PMID:28973395, PMID:30079973 NCBI chr 9:9,961,020...9,968,420
Ensembl chr 9:9,961,021...9,968,486
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Pathological Conditions, Signs and Symptoms 8735
      Signs and Symptoms 5235
        Neurologic Manifestations 4188
          Voice Disorders 5
            torsion dystonia 4 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          brain disease 8346
            movement disease 1158
              Dyskinesias 869
                dystonia 161
                  generalized dystonia 12
                    Dystonia Musculorum Deformans 10
                      torsion dystonia 4 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.