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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:autosomal recessive spinocerebellar ataxia 19
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Accession:DOID:0080065 term browser browse the term
Definition:An autosomal recessive cerebellar ataxia that is characterized by postnatal onset of severe progressive sensorineural hearing loss and progressive cerebellar ataxia and that has_material_basis_in homozygous mutation in the SLC9A1 gene on chromosome 1p36. (DO)
Synonyms:exact_synonym: LIKNS;   Lichtenstein-Knorr syndrome;   SCAR19
 primary_id: OMIM:616291
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal recessive spinocerebellar ataxia 19 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc9a1 solute carrier family 9 member A1 ISO ClinVar Annotator: match by term: Lichtenstein-knorr syndrome OMIM
ClinVar
PMID:25205112 PMID:25741868 PMID:30018422 NCBI chr 5:151,573,122...151,626,360
Ensembl chr 5:151,573,092...151,627,316
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16158
    sensory system disease 5201
      auditory system disease 746
        inner ear disease 533
          sensorineural hearing loss 493
            autosomal recessive spinocerebellar ataxia 19 1
Path 2
Term Annotations click to browse term
  disease 16158
    disease of anatomical entity 15408
      nervous system disease 11007
        central nervous system disease 9126
          brain disease 8438
            movement disease 1100
              Dyskinesias 797
                Ataxia 342
                  Spinocerebellar Ataxias 222
                    cerebellar ataxia 187
                      autosomal recessive cerebellar ataxia 69
                        autosomal recessive spinocerebellar ataxia 19 1
paths to the root