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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 8
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Accession:DOID:0080252 term browser browse the term
Definition:A spastic ataxia that is characterized by onset of primarily motor dysfunction within the first year of life and that has_material_basis_in homozygous mutation in the NKX6-2 gene on chromosome 8q21. (DO)
Synonyms:exact_synonym: SPAX8;   spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
 primary_id: OMIM:617560


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spastic ataxia 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NKX6-2 NK6 homeobox 2 ISO ClinVar Annotator: match by term: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28575651 PMID:28969374 PMID:29388673 More... NCBI chr14:140,895,622...140,899,114
Ensembl chr14:140,897,874...140,899,155 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    Developmental Disease 17260
      Neurodevelopmental Disorders 6635
        intellectual disability 4177
          spastic ataxia 80
            spastic ataxia 8 1
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      nervous system disease 12960
        central nervous system disease 11610
          brain disease 10899
            disease of mental health 7880
              developmental disorder of mental health 5351
                specific developmental disorder 4367
                  intellectual disability 4177
                    spastic ataxia 80
                      spastic ataxia 8 1
paths to the root