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DOID:0111628 - high myopia-sensorineural deafness syndrome
Disease Ontology Definition:A syndrome characterized by severe myopia and moderate to profound, bilateral, progressive sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the SLITRK6 gene on chromosome 13q31.1.
Synonyms: DFNMYP, deafness and myopia, deafness and myopia syndrome,
Xenbase Genes
:
slitrk6
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
syndrome (is_a)