You are using an outdated browser. Please upgrade your browser to improve your experience.

hereditary benign intraepithelial dyskeratosis

Disease Summary
Associated Targets ()

Mondo Description A rare genetic disorder with an autosomal dominant pattern of inheritance with variable penetrance. It was initially described among Native Americans belonging to the Haliwa-Saponi tribe of northeastern North Carolina. It is caused by a duplication of chromosomal DNA at 4q35. Clinical signs present in early childhood and include asymptomatic plaques of the epibulbar conjunctivae and oral mucosa. Clinical progression of the plaques to malignancy has not been reported.
Mondo Term and Equivalent IDs
MONDO:0007486:  hereditary benign intraepithelial dyskeratosis
MESH:C562551: 
NCIT:C3940: 
Orphanet:352657: 
SCTID:400014002: 
UMLS:C0265966: