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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:spinocerebellar ataxia type 34
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Accession:DOID:0050981 term browser browse the term
Definition:An autosomal dominant cerebellar ataxia that is characterized by papulosquamous, ichthyosiform plaques at birth and progressive ataxia, dysarthria, nystagmus and hyporeflexia, has_material_basis_in mutation in the ELOVL4 gene. (DO)
Synonyms:exact_synonym: Giroux Barbeau syndrome;   erythrokeratodermia - ataxia;   erythrokeratodermia with ataxia
 primary_id: MESH:C535738
 alt_id: DOID:9005475;   MIM:133190


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spinocerebellar ataxia type 34 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elovl4 ELOVL fatty acid elongase 4 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 34 OMIM
ClinVar		 PMID:5048218 PMID:24566826 PMID:25741868 PMID:26010696 PMID:28492532 More... NCBI chr 8:84,702,916...84,729,466
Ensembl chr 8:84,702,362...84,729,697 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    sensory system disease 7326
      skin disease 4308
        Genetic Skin Diseases 1879
          spinocerebellar ataxia type 34 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
                    cerebellar ataxia 480
                      autosomal dominant cerebellar ataxia 90
                        spinocerebellar ataxia type 34 1
paths to the root