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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: MIM: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 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 41 OMIM
ClinVar		 PMID:25477146 PMID:25741868 PMID:28492532 NCBI chr 2:119,481,313...119,619,333
Ensembl chr 2:119,481,400...119,558,855 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      nervous system disease 14336
        neurodegenerative disease 5008
          hereditary ataxia 630
            cerebellar ataxia 480
              autosomal dominant cerebellar ataxia 90
                cerebellar ataxia type 41 1
Path 2
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      nervous system disease 14336
        central nervous system disease 12608
          brain disease 11837
            movement disease 2627
              Dyskinesias 2229
                Ataxia 953
                  Spinocerebellar Ataxias 555
                    cerebellar ataxia 480
                      autosomal dominant cerebellar ataxia 90
                        cerebellar ataxia type 41 1
paths to the root