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corneal dystrophy-perceptive deafness syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED) with progressive, postlingual sensorineural hearing loss.
Uniprot Description An ocular disease characterized by the association of corneal clouding with progressive perceptive hearing loss.
Mondo Term and Equivalent IDs
MONDO:0009015:  corneal dystrophy-perceptive deafness syndrome
DOID:0111620: 
GARD:0001529: 
MESH:C535473: 
Orphanet:1490: 
SCTID:720749004: 
UMLS:C1857572: