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RGD uses the Human Disease Ontology (DO, 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
PMID:25205112 PMID:25741868 PMID:30018422 NCBI chr 5:145,576,341...145,629,630
Ensembl chr 5:145,576,334...145,629,624
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    sensory system disease 6469
      auditory system disease 975
        inner ear disease 694
          sensorineural hearing loss 652
            autosomal recessive spinocerebellar ataxia 19 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        central nervous system disease 11253
          brain disease 10538
            movement disease 1690
              Dyskinesias 1344
                Ataxia 536
                  Spinocerebellar Ataxias 350
                    cerebellar ataxia 275
                      autosomal recessive cerebellar ataxia 156
                        autosomal recessive spinocerebellar ataxia 19 1
paths to the root