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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: OMIM: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 chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775 		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 chr10:39,364,072...39,456,324
Ensembl chr10:39,364,073...39,456,216 		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 chr10:39,319,062...39,357,374
Ensembl chr10:39,324,337...39,354,217 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        neurodegenerative disease 4902
          hereditary ataxia 640
            cerebellar ataxia 474
              autosomal dominant cerebellar ataxia 87
                spinocerebellar ataxia 45 3
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        central nervous system disease 12430
          brain disease 11668
            movement disease 2583
              Dyskinesias 2196
                Ataxia 962
                  Spinocerebellar Ataxias 550
                    cerebellar ataxia 474
                      autosomal dominant cerebellar ataxia 87
                        spinocerebellar ataxia 45 3
paths to the root