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spinocerebellar ataxia type 34 - Ontology Report - Rat Genome Database

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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 19145
    sensory system disease 7372
      skin disease 4308
        Genetic Skin Diseases 1869
          spinocerebellar ataxia type 34 1
Path 2
Term Annotations click to browse term
  disease 19145
    disease of anatomical entity 18457
      nervous system disease 14363
        central nervous system disease 12646
          brain disease 11866
            movement disease 2633
              Dyskinesias 2232
                Ataxia 957
                  hereditary ataxia 635
                    cerebellar ataxia 484
                      autosomal dominant cerebellar ataxia 91
                        spinocerebellar ataxia type 34 1
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