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DKBI
No data
Diseases
Hereditary Benign Intraepithelial Dyskeratosis
hereditary benign intraepithelial dyskeratosis
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 1
Basic Information
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Core Information
- Disease Name
- Hereditary Benign Intraepithelial Dyskeratosis
- Standard Disease Name
- hereditary benign intraepithelial dyskeratosis
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- C562551
- OMIM ID
- 127600
- UMLS ID
- C0265966
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_02D: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.
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