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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 27B
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Accession:DOID:9006713 term browser browse the term
Definition:An autosomal dominant neurodegenerative disorder characterized by the onset of gait and appendicular ataxia in adulthood, usually around age 55 (range 30 to late eighties). Caused by a heterozygous trinucleotide repeat expansion (GAAn) in the FGF14 gene on chromosome 13q33.
Synonyms:exact_synonym: SCA27B;   Spinocerebellar ataxia 27B, late-onset
 primary_id: MIM:620174


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Spinocerebellar Ataxia 27B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF14 fibroblast growth factor 14 ISO OMIM NCBI chr22:51,379,799...51,983,662
Ensembl chr22:51,380,788...51,982,849 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15606
    physical disorder 4906
      congenital nystagmus 22
        spinocerebellar ataxia type 27 2
          Spinocerebellar Ataxia 27B 1
Path 2
Term Annotations click to browse term
  disease 15606
    disease of anatomical entity 15201
      nervous system disease 13269
        central nervous system disease 11888
          brain disease 11171
            movement disease 2515
              Dyskinesias 2143
                Ataxia 938
                  Spinocerebellar Ataxias 557
                    cerebellar ataxia 481
                      autosomal dominant cerebellar ataxia 89
                        spinocerebellar ataxia type 27 2
                          Spinocerebellar Ataxia 27B 1
paths to the root