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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:autosomal recessive spinocerebellar ataxia 17
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Accession:DOID:0080064 term browser browse the term
Definition:An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the CWF19L1 gene on chromosome 10q24. (DO)
Synonyms:exact_synonym: SCAR17
 primary_id: MIM:616127


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autosomal recessive spinocerebellar ataxia 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cwf19l1 CWF19 like cell cycle control factor 1 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 17 OMIM
ClinVar		 PMID:15981765 PMID:16199547 PMID:18414213 PMID:25361784 PMID:25741868 More... NCBI chr 1:242,997,720...243,020,989
Ensembl chr 1:242,997,726...243,020,961 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14333
        neurodegenerative disease 5005
          hereditary ataxia 629
            cerebellar ataxia 480
              autosomal recessive cerebellar ataxia 167
                autosomal recessive spinocerebellar ataxia 17 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14333
        central nervous system disease 12605
          brain disease 11834
            movement disease 2626
              Dyskinesias 2228
                Ataxia 952
                  Spinocerebellar Ataxias 555
                    cerebellar ataxia 480
                      autosomal recessive cerebellar ataxia 167
                        autosomal recessive spinocerebellar ataxia 17 1
paths to the root