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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 14
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Accession:DOID:0080058 term browser browse the term
Definition:An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severe early-onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and intellectual disability and that has_material_basis_in homozygous mutation in the SPTBN2 gene on chromosome 11q13. (DO)
Synonyms:exact_synonym: SCAR14;   SPARCA1;   autosomal recessive cerebellar ataxia, spectrin-associated, 1;   spinocerebellar ataxia, SPTBN2-related
 broad_synonym: SPTBN2-RELATED CONDITION
 primary_id: OMIM:615386
 alt_id: OMIA:002092

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autosomal recessive spinocerebellar ataxia 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkcg protein kinase C gamma ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 14 ClinVar PMID:25741868 NCBI chrNW_004936994:87,525...105,125
Ensembl chrNW_004936994:87,519...105,134 		JBrowse link
G Sptbn2 spectrin beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 14 | ClinVar Annotator: match by term: SPTBN2-related condition OMIM
ClinVar		 PMID:17940722 PMID:23236289 PMID:23838597 PMID:25741868 PMID:26467025 More... NCBI chrNW_004936599:2,890,404...2,928,502
Ensembl chrNW_004936599:2,890,817...2,928,499 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      nervous system disease 12340
        neurodegenerative disease 4477
          hereditary ataxia 596
            cerebellar ataxia 444
              autosomal recessive cerebellar ataxia 150
                autosomal recessive spinocerebellar ataxia 14 2
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      nervous system disease 12340
        central nervous system disease 11056
          brain disease 10378
            movement disease 2374
              Dyskinesias 2030
                Ataxia 882
                  Spinocerebellar Ataxias 518
                    cerebellar ataxia 444
                      autosomal recessive cerebellar ataxia 150
                        autosomal recessive spinocerebellar ataxia 14 2
paths to the root