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ONTOLOGY REPORT - ANNOTATIONS


Term:dystonia 27
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Accession:DOID:0090050 term browser browse the term
Definition:An autosomal recessive neurologic disorder characterized by onset of segmental isolated dystonia mainly affecting the craniocervical region and upper limbs in the first 2 decades of life. (OMIM)
Synonyms:exact_synonym: AUTOSOMAL RECESSIVE DISTAL HEREDITARY MOTOR NEUROPATHY;   COLLAGEN VI-RELATED MYOPATHY;   DYT27
 primary_id: OMIM:616411;   RDO:9001307
 xref: ORDO:464440
For additional species annotation, visit the Alliance of Genome Resources.


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dystonia 27 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col6a1 collagen type VI alpha 1 chain JBrowse link 20 12,657,913 12,676,370 RGD:8554872
G Col6a2 collagen type VI alpha 2 chain JBrowse link 20 12,773,472 12,801,179 RGD:8554872
G Col6a3 collagen type VI alpha 3 chain JBrowse link 9 97,926,784 98,004,643 RGD:8554872
RGD:7240710
G Ftcd formimidoyltransferase cyclodeaminase JBrowse link 20 12,806,957 12,820,466 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14924
    Developmental Diseases 7770
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7092
        genetic disease 6457
          dystonia 27 4
Path 2
Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      nervous system disease 9141
        central nervous system disease 6931
          brain disease 6435
            movement disease 999
              Dyskinesias 707
                dystonia 80
                  segmental dystonia 4
                    dystonia 27 4
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.