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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 type 27
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Accession:DOID:0050976 term browser browse the term
Definition:An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia, early-onset tremor and dyskinesia, and has_material_basis_in heterozygous mutation in the FGF14 gene on chromosome 13q33. Some patients have heterozygous deletions of chromosome 13q33 affecting the FGF14 and ITGBL1 genes, which may thus be considered a contiguous gene deletion syndrome. (DO)
Synonyms:exact_synonym: NYS4;   SCA27;   autosomal dominant cerebellar ataxia, FGF14-related;   congenital nystagmus 4;   congenital nystagmus 4, autosomal dominant;   spinocerebellar ataxia 27;   vestibulocerebellar disorder with predominant ocular signs
 primary_id: MESH:C537204
 alt_id: DOID:0111794;   MESH:C537856
 xref: GARD:9603


show annotations for term's descendants           Sort by:
spinocerebellar ataxia type 27 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF14 fibroblast growth factor 14 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 27 ClinVar PMID:5470364 PMID:12489043 PMID:15470364 PMID:21681106 PMID:25741868 More... NCBI chr22:51,379,799...51,983,662
Ensembl chr22:51,380,788...51,982,849 		JBrowse link
G ITGBL1 integrin subunit beta like 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 27 ClinVar PMID:25741868 NCBI chr22:51,157,789...51,377,441
Ensembl chr22:51,158,169...51,380,430 		JBrowse link
Spinocerebellar Ataxia 27A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF14 fibroblast growth factor 14 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 27A OMIM
ClinVar		 PMID:12489043 PMID:15470364 PMID:17978045 PMID:25566820 PMID:25741868 More... NCBI chr22:51,379,799...51,983,662
Ensembl chr22:51,380,788...51,982,849 		JBrowse link
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 27A 1
          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 27A 1
                          Spinocerebellar Ataxia 27B 1
paths to the root