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DOID:0080065 - autosomal recessive spinocerebellar ataxia 19
Disease Ontology 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.
Synonyms: Lichtenstein-Knorr syndrome, SCAR19,
Xenbase Genes : slc9a1
MONDO:0014572 - Lichtenstein-Knorr syndrome |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive cerebellar ataxia (is_a)