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autosomal dominant deafness - onychodystrophy syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges.
Uniprot Description An autosomal dominant syndrome characterized mainly by congenital sensorineural hearing loss accompanied by dystrophic or absent nails. Coniform teeth, selective tooth agenesis, and hands and feet abnormalities are present in some patients.
Mondo Term and Equivalent IDs
MONDO:0007420:  autosomal dominant deafness - onychodystrophy syndrome
GARD:0004732: 
Orphanet:79499: 
UMLS:C2675730: