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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:Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline
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Accession:DOID:9002043 term browser browse the term
Definition:An autosomal recessive progressive disorder with onset of symptoms in the first decade.
Synonyms:exact_synonym: CONATOC
 primary_id: OMIM:618868
For additional species annotation, visit the Alliance of Genome Resources.


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Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc44a1 solute carrier family 44 member 1 ISO ClinVar Annotator: match by term: NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE OMIM
ClinVar
PMID:28097321 PMID:31855247 NCBI chr 5:70,243,643...70,424,115
Ensembl chr 5:70,245,843...70,424,112
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      nervous system disease 10948
        neurodegenerative disease 3215
          Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline 1
Path 2
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      nervous system disease 10948
        central nervous system disease 9061
          brain disease 8367
            movement disease 1090
              Dyskinesias 792
                Tremor 67
                  Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline 1
paths to the root