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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:CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS
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Accession:DOID:9003258 term browser browse the term
Definition:This disease is an autosomal recessive, primarily neurologic disorder with variable manifestations.
Synonyms:exact_synonym: CABAC
 primary_id: OMIM:619576
For additional species annotation, visit the Alliance of Genome Resources.



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CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Exosc5 exosome component 5 ISO ClinVar Annotator: match by term: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS OMIM
ClinVar
PMID:25741868 PMID:29302074 PMID:30950035 PMID:32504085 PMID:34089229 NCBI chr 1:81,168,128...81,177,266
Ensembl chr 1:81,166,023...81,177,265
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    Pathological Conditions, Signs and Symptoms 11297
      Pathologic Processes 7693
        Cardiac Arrhythmias 670
          Heart Block 42
            CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS 1
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      nervous system disease 13146
        central nervous system disease 11274
          brain disease 10560
            movement disease 1694
              Dyskinesias 1347
                Ataxia 540
                  Spinocerebellar Ataxias 353
                    cerebellar ataxia 278
                      CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS 1
paths to the root