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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 16
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Accession:DOID:0080029 term browser browse the term
Definition:An autosomal recessive cerebellar ataxia that is characterized by truncal and limb ataxia resulting in gait instability and that has_material_basis_in homozygous or compound heterozygous mutation in the STUB1 gene on chromosome 16p13. (DO)
Synonyms:exact_synonym: SCAR16
 primary_id: OMIM:615768


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autosomal recessive spinocerebellar ataxia 16 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G JMJD8 jumonji domain containing 8 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 16 ClinVar PMID:24113144 PMID:24719489 PMID:24742043 PMID:25741868 PMID:28492532 More... NCBI chr 3:41,090,787...41,093,620
Ensembl chr 3:41,090,788...41,093,614 		JBrowse link
G RHBDL1 rhomboid like 1 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 16 ClinVar PMID:25741868 NCBI chr 3:41,096,881...41,099,582
Ensembl chr 3:41,096,884...41,099,587 		JBrowse link
G STUB1 STIP1 homology and U-box containing protein 1 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 16 OMIM
ClinVar		 PMID:24113144 PMID:24312598 PMID:24719489 PMID:24742043 PMID:25258038 More... NCBI chr 3:41,092,514...41,095,181
Ensembl chr 3:41,092,449...41,095,136 		JBrowse link
G WDR24 WD repeat domain 24 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 16 ClinVar PMID:25741868 NCBI chr 3:41,085,415...41,090,628
Ensembl chr 3:41,085,463...41,090,610 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      nervous system disease 12962
        neurodegenerative disease 4656
          hereditary ataxia 617
            cerebellar ataxia 463
              autosomal recessive cerebellar ataxia 155
                autosomal recessive spinocerebellar ataxia 16 4
Path 2
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      nervous system disease 12962
        central nervous system disease 11612
          brain disease 10901
            movement disease 2451
              Dyskinesias 2091
                Ataxia 910
                  Spinocerebellar Ataxias 538
                    cerebellar ataxia 463
                      autosomal recessive cerebellar ataxia 155
                        autosomal recessive spinocerebellar ataxia 16 4
paths to the root