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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: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
 alt_id: OMIM:604121
 xref: GARD:12372
For additional species annotation, visit the Alliance of Genome Resources.



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autosomal dominant cerebellar ataxia, deafness and narcolepsy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia, deafness and narcolepsy OMIM
ClinVar
PMID:8747854 PMID:22328086 PMID:25741868 PMID:28492532 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    sensory system disease 6393
      auditory system disease 1063
        inner ear disease 789
          sensorineural hearing loss 652
            autosomal dominant cerebellar ataxia, deafness and narcolepsy 1
Path 2
Term Annotations click to browse term
  disease 18145
    disease of anatomical entity 17519
      nervous system disease 13182
        central nervous system disease 11306
          brain disease 10593
            disease of mental health 7503
              sleep disorder 147
                Dyssomnias 122
                  Intrinsic Sleep Disorders 98
                    recurrent hypersomnia 19
                      narcolepsy 19
                        autosomal dominant cerebellar ataxia, deafness and narcolepsy 1
paths to the root