Oral Mucosa Hereditary Benign Intraepithelial Dyskeratosis

Preferred Label : Oral Mucosa Hereditary Benign Intraepithelial Dyskeratosis;

NCIt synonyms : Oral Mucosa HBID;

NCIt definition : A rare autosomal dominant disorder with high penetrance that affects the oral mucosa. It is almost exclusively encountered in Native Americans belonging to the Haliwa-Saponi tribe of northeastern North Carolina and is caused by a duplication in chromosome 4q35. It is characterized by the presence of elevated epithelial dyskeratotic plaques in the oral mucosa. Epithelial dysplasia is absent.;

Neoplastic status : Benign;

Details

Origin ID

C212098;

Disease excludes abnormal cell
- Adenocarcinoma Cell [NCIt concept]
- Malignant Cell [NCIt concept]
- Malignant Connective and Soft Tissue Cell [NCIt concept]
- Malignant Epithelial Cell [NCIt concept]
- Malignant Squamous Cell [NCIt concept]
- Malignant Transitional Cell [NCIt concept]
- Neoplastic Glandular Cell [NCIt concept]
- Neoplastic Lymphocyte [NCIt concept]
- Neoplastic Smooth Muscle Cell [NCIt concept]
Disease excludes normal cell origin
- Endocrine-Stromal Cell [NCIt concept]
Has associated anatomic sites
- Head and Neck [NCIt concept]
- Lip and Oral Cavity [NCIt concept]
- Oral Cavity [NCIt concept]
Has cytogenetic abnormalities
- Gain of Chromosome 4q35 [NCIt concept]
disease_excludes_finding
- Borderline Lesion [NCIt concept]
- Malignant Cellular Infiltrate [NCIt concept]
- Mixed Cellular Population [NCIt concept]
- Mixed Neoplastic Glandular and Squamous Cell Population [NCIt concept]
disease_has_abnormal_cell
- Neoplastic Cell [NCIt concept]
- Neoplastic Epithelial Cell [NCIt concept]
- Neoplastic Squamous Cell [NCIt concept]
disease_has_finding
- Benign Cellular Infiltrate [NCIt concept]
- Dyskeratosis [NCIt concept]
- Elevated Plaque-Like Lesion [NCIt concept]
- Epithelial Component Present [NCIt concept]
- Hereditary Lesion [NCIt concept]
- Indolent Clinical Course [NCIt concept]
disease_has_normal_cell_origin
- Epithelial Cell [NCIt concept]
disease_has_normal_tissue_origin
- Epithelial Tissue [NCIt concept]
- Oral Mucosa [NCIt concept]
disease_has_primary_anatomic_site
- Head and Neck [NCIt concept]
- Lip and Oral Cavity [NCIt concept]
- Oral Cavity [NCIt concept]

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