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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 type 41
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Accession:DOID:0111744 term browser browse the term
Definition:An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the TRPC3 gene on chromosome 4q27. (DO)
Synonyms:exact_synonym: SCA41;   SPINOCEREBELLAR ATAXIA TYPE 41;   spinocerebellar ataxia 41
 primary_id: OMIM:616410
 xref: EFO:0009058;   ORDO:458798


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cerebellar ataxia type 41 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRPC3 transient receptor potential cation channel subfamily C member 3 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia type 41 OMIM
ClinVar		 PMID:25477146 PMID:25741868 PMID:28492532 NCBI chr 4:121,874,481...121,952,060
Ensembl chr 4:121,874,481...121,952,060 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        neurodegenerative disease 6568
          hereditary ataxia 855
            cerebellar ataxia 654
              autosomal dominant cerebellar ataxia 145
                cerebellar ataxia type 41 1
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        central nervous system disease 23468
          brain disease 21902
            movement disease 3274
              Dyskinesias 2681
                Ataxia 1296
                  Spinocerebellar Ataxias 742
                    cerebellar ataxia 654
                      autosomal dominant cerebellar ataxia 145
                        cerebellar ataxia type 41 1
paths to the root