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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal dominant cerebellar ataxia, deafness and narcolepsy
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Accession:DOID:0050968 term browser browse the term
Definition:An autosomal dominant cerebellar ataxia that is characterized by ataxia, sensorineal deafness, narcolepsy with cataplexy, and dementia, has_material_basis_in mutation in the DNMT1 gene. (DO)
Synonyms:exact_synonym: ADCADN;   Cerebellar Ataxia, Deafness, and Narcolepsy
 primary_id: MESH:C565825;   RDO:0014363
 alt_id: OMIM:604121
 xref: GARD:12372
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autosomal dominant cerebellar ataxia, deafness and narcolepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnmt1 DNA methyltransferase 1 JBrowse link 8 21,922,515 21,968,495 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    sensory system disease 4681
      auditory system disease 684
        inner ear disease 495
          sensorineural hearing loss 459
            autosomal dominant cerebellar ataxia, deafness and narcolepsy 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        central nervous system disease 8096
          brain disease 7565
            movement disease 1001
              Dyskinesias 711
                Ataxia 300
                  Spinocerebellar Ataxias 198
                    cerebellar ataxia 169
                      autosomal dominant cerebellar ataxia 63
                        autosomal dominant cerebellar ataxia, deafness and narcolepsy 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.