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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 4
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Accession:DOID:0111611 term browser browse the term
Definition:An autosomal recessive cerebellar ataxia characterized by ataxic gait with spasticity, hyperreflexia of the lower limbs, and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in VPS13D on chromosome 1p36.22-p36.21. (DO)
Synonyms:exact_synonym: SCA24;   SCAR4;   SCASI;   autosomal recessive cerebellar ataxia-saccadic intrusion syndrome;   spinocerebellar ataxia 24;   spinocerebellar ataxia with saccadic intrusions
 primary_id: MESH:C537310
 alt_id: OMIM:607317
 xref: GARD:4952;   ORDO:95434
For additional species annotation, visit the Alliance of Genome Resources.



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autosomal recessive spinocerebellar ataxia 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps13d vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome OMIM
ClinVar
PMID:11960835 PMID:25741868 PMID:28492532 PMID:29518281 PMID:29604224 More... NCBI chr 5:156,830,509...157,055,895
Ensembl chr 5:156,830,512...157,055,891
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    disease of anatomical entity 17576
      nervous system disease 13207
        neurodegenerative disease 3928
          hereditary ataxia 407
            cerebellar ataxia 282
              autosomal recessive cerebellar ataxia 159
                autosomal recessive spinocerebellar ataxia 4 1
Path 2
Term Annotations click to browse term
  disease 18215
    disease of anatomical entity 17576
      nervous system disease 13207
        central nervous system disease 11364
          brain disease 10660
            movement disease 1744
              Dyskinesias 1401
                Ataxia 549
                  Spinocerebellar Ataxias 357
                    cerebellar ataxia 282
                      autosomal recessive cerebellar ataxia 159
                        autosomal recessive spinocerebellar ataxia 4 1
paths to the root