autosomal recessive spinocerebellar ataxia 19

Summary

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: slc9a1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014572 - Lichtenstein-Knorr syndrome

MONDO:0014572 - Lichtenstein-Knorr syndrome

MIM:

MIM:616291 - LICHTENSTEIN-KNORR SYNDROME; LIKNS

MIM:616291 - LICHTENSTEIN-KNORR SYNDROME; LIKNS

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive cerebellar ataxia (is_a)