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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;   Ataxia, Spastic, 3, Autosomal Recessive;   Autosomal Recessive Spastic Ataxia With Leukoencephalopathy;   SPAX3
 primary_id: MESH:C566956;   RDO:0015159
 alt_id: OMIM:611390;   RDO:0009523
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 9:64,434,814...64,437,730
Ensembl chr 9:64,434,904...64,436,664
Ensembl chr 9:64,434,904...64,436,664
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 chr15:41,448,078...41,530,412
Ensembl chr15:41,448,064...41,530,398
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Neurodevelopmental Disorders 4554
        intellectual disability 2107
          spastic ataxia 26
            spastic ataxia 3 2
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        central nervous system disease 9005
          brain disease 8328
            movement disease 1156
              Dyskinesias 867
                Ataxia 393
                  hereditary ataxia 281
                    spastic ataxia 26
                      spastic ataxia 3 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.