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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:spinocerebellar ataxia 45
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Accession:DOID:0080287 term browser browse the term
Definition:An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the FAT2 gene on chromosome 5q33. (DO)
Synonyms:exact_synonym: FAT2-RELATED CONDITION;   SCA45;   spinocerebellar ataxia type 45
 primary_id: MIM:617769



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spinocerebellar ataxia 45 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDH1 cadherin 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 45 ClinVar PMID:25741868 NCBI chr 6:18,075,487...18,155,986
Ensembl chr 6:18,075,480...18,155,986
JBrowse link
G FAT2 FAT atypical cadherin 2 ISO ClinVar Annotator: match by term: FAT2-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia 45 OMIM
ClinVar
PMID:20301317 PMID:25741868 PMID:28492532 PMID:29053796 PMID:29847346 NCBI chr16:71,448,491...71,531,664
Ensembl chr16:71,469,847...71,530,501
JBrowse link
G FH fumarate hydratase ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 45 ClinVar PMID:11865300 PMID:12772087 PMID:15937070 PMID:15987702 PMID:16151915 More... NCBI chr10:12,404,143...12,431,843
Ensembl chr10:12,404,176...12,431,824
JBrowse link
G SLC36A1 solute carrier family 36 member 1 ISO ClinVar Annotator: match by term: FAT2-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia 45 ClinVar PMID:20301317 PMID:25741868 PMID:28492532 PMID:29053796 PMID:29847346 NCBI chr16:71,540,646...71,589,532
Ensembl chr16:71,538,296...71,589,456
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15428
    disease of anatomical entity 15098
      nervous system disease 13250
        neurodegenerative disease 4830
          hereditary ataxia 612
            cerebellar ataxia 473
              autosomal dominant cerebellar ataxia 89
                spinocerebellar ataxia 45 4
Path 2
Term Annotations click to browse term
  disease 15428
    disease of anatomical entity 15098
      nervous system disease 13250
        central nervous system disease 11838
          brain disease 11112
            movement disease 2508
              Dyskinesias 2135
                Ataxia 908
                  Spinocerebellar Ataxias 547
                    cerebellar ataxia 473
                      autosomal dominant cerebellar ataxia 89
                        spinocerebellar ataxia 45 4
paths to the root