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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 4
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Accession:DOID:0050943 term browser browse the term
Definition:A spastic ataxia that is characterized by cerebellar ataxia, spasticity, dysarthria and optic atrophy, has_material_basis_in homozygous mutation in the MTPAP gene on chromosome 10p11. (DO)
Synonyms:exact_synonym: SPAX4;   spastic ataxia 4, autosomal recessive
 primary_id: OMIM:613672
For additional species annotation, visit the Alliance of Genome Resources.



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spastic ataxia 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtpap mitochondrial poly(A) polymerase ISO ClinVar Annotator: match by term: Spastic ataxia 4 OMIM
ClinVar
PMID:20970105 PMID:25008111 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr17:53,320,739...53,341,500
Ensembl chr17:53,320,741...53,341,538
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Neurodevelopmental Disorders 6102
        intellectual disability 3879
          spastic ataxia 81
            spastic ataxia 4 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        central nervous system disease 11253
          brain disease 10538
            movement disease 1690
              Dyskinesias 1344
                Ataxia 536
                  hereditary ataxia 396
                    spastic ataxia 81
                      spastic ataxia 4 1
paths to the root