hereditary benign intraepithelial dyskeratosis
Findings
No curated finding names hereditary benign intraepithelial dyskeratosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0007486), read 2026-09-29. CC BY 4.0.
Where it sits
Other names
3 names
Resolves to: hereditary benign intraepithelial dyskeratosis
- Also called
- HBIDhereditary benign corneal intraepithelial dyskeratosisWitkop-Von Sallmann disease