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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

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  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          dystonia 27 4
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            movement disease 989
              Dyskinesias 702
                dystonia 74
                  segmental dystonia 4
                    dystonia 27 4
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