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autosomal dominant nonsyndromic deafness 44

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CCDC50 gene.
Uniprot Description A form of non-syndromic deafness characterized by initially moderate hearing loss that affects mainly low to mid frequencies. Later, it progresses to involve all the frequencies and leads to a profound hearing loss by the 6th decade.
Mondo Term and Equivalent IDs
MONDO:0011832:  autosomal dominant nonsyndromic deafness 44
MESH:C564399: 
UMLS:C1843895: