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Usher syndrome type 2D

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any Usher syndrome in which the cause of the disease is a mutation in the WHRN gene.
Uniprot Description USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa and sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses.
Disease Ontology Description An Usher syndrome type 2 that has_material_basis_in by homozygous or compound heterozygous mutation in the WHRN gene on chromosome 9q32.
Mondo Term and Equivalent IDs
MONDO:0012662:  Usher syndrome type 2D