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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:CAPOS Syndrome
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Accession:DOID:9007693 term browser browse the term
Synonyms:exact_synonym: CAPOS;   cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss;   cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss
 primary_id: MESH:C535351
 alt_id: OMIM:601338
For additional species annotation, visit the Alliance of Genome Resources.



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CAPOS Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO DNA:missense mutation:exon:p.E818K (c.2452G>A) (human)
ClinVar Annotator: match by term: CAPOS syndrome | ClinVar Annotator: match by term: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS
OMIM
ClinVar
RGD
PMID:8733056 PMID:15260953 PMID:18414213 PMID:19652145 PMID:20576601 More... RGD:11576280 NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    syndrome 9456
      CAPOS Syndrome 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        central nervous system disease 11254
          brain disease 10539
            movement disease 1690
              Dyskinesias 1344
                Ataxia 536
                  hereditary ataxia 396
                    cerebellar ataxia 275
                      CAPOS Syndrome 1
paths to the root