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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 OMIM:613672
ClinVar Annotator: match by term: Ataxia, spastic, 4, autosomal recessive
OMIM
ClinVar
PMID:20970105, PMID:25008111, PMID:25741868, PMID:26467025 NCBI chr17:56,046,507...56,068,185
Ensembl chr17:56,046,509...56,068,125
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Neurodevelopmental Disorders 4619
        intellectual disability 2166
          spastic ataxia 28
            spastic ataxia 4 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            movement disease 1158
              Dyskinesias 869
                Ataxia 395
                  hereditary ataxia 281
                    spastic ataxia 28
                      spastic ataxia 4 1
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.