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ONTOLOGY REPORT - ANNOTATIONS


Term:DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES
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Accession:DOID:9003458 term browser browse the term
Definition:Childhood-onset dystonia with optic atrophy and basal ganglia abnormalities is an autosomal recessive neurologic disorder characterized by onset of involuntary movements in the first decade of life. (OMIM)
Synonyms:exact_synonym: DYSTONIA 29, CHILDHOOD-ONSET;   DYT29;   DYTOABG
 primary_id: OMIM:617282
 alt_id: RDO:9001438
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DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mecr mitochondrial trans-2-enoyl-CoA reductase JBrowse link 5 150,001,281 150,027,407 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        central nervous system disease 8096
          movement disease 1001
            dystonia 81
              DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        peripheral nervous system disease 2127
          neuropathy 1950
            cranial nerve disease 361
              optic nerve disease 192
                optic atrophy 93
                  DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.