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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 10, Autosomal Recessive
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Accession:DOID:9006071 term browser browse the term
Definition:A slowly progressive movement disorder with a variable age at onset (range infancy to adulthood). Caused by homozygous or compound heterozygous mutation in the COQ4 gene on chromosome 9q34.
Synonyms:exact_synonym: SPAX10
 primary_id: MIM:620666


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Spastic Ataxia 10, Autosomal Recessive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coq4 coenzyme Q4 ISO ClinVar Annotator: match by term: Spastic ataxia 10, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26185144 PMID:28492532 More... NCBI chr 3:13,060,054...13,070,502
Ensembl chr 3:13,060,455...13,068,799 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    Developmental Disease 14598
      Neurodevelopmental Disorders 6949
        intellectual disability 4384
          spastic ataxia 83
            Spastic Ataxia 10, Autosomal Recessive 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14333
        central nervous system disease 12605
          brain disease 11834
            movement disease 2626
              Dyskinesias 2228
                Ataxia 952
                  hereditary ataxia 629
                    spastic ataxia 83
                      Spastic Ataxia 10, Autosomal Recessive 1
paths to the root