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autosomal dominant nonsyndromic deafness 41

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the P2RX2 gene.
Uniprot Description A form of non-syndromic deafness characterized by onset of progressive sensorineural hearing loss usually in the second decade. The hearing loss is severe and ultimately affects all frequencies. Exposure to noise exacerbates the hearing loss, particularly at high frequencies.
Mondo Term and Equivalent IDs
MONDO:0011994:  autosomal dominant nonsyndromic deafness 41
MESH:C564272: 
UMLS:C1842371: