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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:Cognitive Impairment with or Without Cerebellar Ataxia
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Accession:DOID:9008255 term browser browse the term
Definition:Cognitive impairment with or without cerebellar ataxia is caused by heterozygous mutation in the SCN8A gene on chromosome 12q13. (OMIM)
Synonyms:exact_synonym: CIAT
 narrow_synonym: COGNITIVE IMPAIRMENT WITHOUT CEREBELLAR ATAXIA
 primary_id: OMIM:614306;   RDO:9000242
For additional species annotation, visit the Alliance of Genome Resources.


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Cognitive Impairment with or Without Cerebellar Ataxia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by This custom term has been created by RGD curators.
ClinVar Annotator: match by term: Cognitive impairment with or without cerebellar ataxia
ClinVar Annotator: match by term: COGNITIVE IMPAIRMENT WITHOUT CEREBELLAR ATAXIA
OMIM
ClinVar
PMID:12374766 PMID:16236810 PMID:17881658 PMID:22365152 PMID:25326635 PMID:25326637 PMID:25741868 PMID:25785782 PMID:26235739 PMID:27779742 PMID:28492532 PMID:28702509 PMID:28923014 PMID:29100083 PMID:29186148 PMID:29720203 PMID:30171078 NCBI chr 7:142,575,629...142,683,659
Ensembl chr 7:142,575,672...142,684,114
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17014
    disease of anatomical entity 16363
      nervous system disease 11947
        central nervous system disease 10253
          brain disease 9616
            disease of mental health 6957
              cognitive disorder 1944
                Cognitive Impairment with or Without Cerebellar Ataxia 1
paths to the root