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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:spastic ataxia 3
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Accession:DOID:0050942 term browser browse the term
Definition:A spastic ataxia that is characterized by cerebellar ataxia, spasticity, hyperreflexia, urinary urgency and dysarthria, has_material_basis_in homozygous or compound heterozygous complex genomic rearrangements involving the MARS2 gene on chromosome 2q33. (DO)
Synonyms:exact_synonym: ARSAL;   AUTOSOMAL RECESSIVE SPASTIC ATAXIA;   Autosomal Recessive Spastic Ataxia With Leukoencephalopathy;   SPAX3;   spastic ataxia 3, autosomal recessive
 primary_id: MESH:C566956
 alt_id: OMIM:611390
For additional species annotation, visit the Alliance of Genome Resources.


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spastic ataxia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mars2 methionyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by OMIM:611390
ClinVar Annotator: match by term: Ataxia, spastic, 3, autosomal recessive
OMIM
ClinVar
PMID:22448145 PMID:25741868 NCBI chr 9:56,720,408...56,729,991
Ensembl chr 9:56,720,983...56,723,820
JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Autosomal recessive spastic ataxia ClinVar PMID:20876471 PMID:21450511 PMID:24033266 PMID:24180463 NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17208
    Developmental Disease 10920
      Neurodevelopmental Disorders 5690
        intellectual disability 3446
          spastic ataxia 25
            spastic ataxia 3 2
Path 2
Term Annotations click to browse term
  disease 17208
    disease of anatomical entity 16554
      nervous system disease 12100
        central nervous system disease 10376
          brain disease 9740
            movement disease 1375
              Dyskinesias 1043
                Ataxia 482
                  hereditary ataxia 340
                    spastic ataxia 25
                      spastic ataxia 3 2
paths to the root