autosomal recessive spinocerebellar ataxia 19 Disease Ontology Browser

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Disease Ontology Browser

autosomal recessive spinocerebellar ataxia 19 (DOID:0080065)
Alliance: disease page
Synonyms: Lichtenstein-Knorr syndrome; SCAR19
Alt IDs: OMIM:616291
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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