Familial Multiple Trichoepitheliomas

Preferred Label : Familial Multiple Trichoepitheliomas;

NCIt synonyms : Multiple Familial Trichoepitheliomas; Multiple Familial Trichoepithelioma;

NCIt definition : A rare autosomal dominant inherited disorder associated with germline mutations of the CYLD tumor suppressor gene. It is characterized by the development of multiple trichoepitheliomas in the central face and sometimes on the scalp, neck, or trunk.;

Details

Origin ID

C205364;

disease_has_associated_disease
- Skin Appendage Neoplasm [NCIt concept]
- Trichoblastoma [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
- Multifocal Lesion [NCIt concept]
- Rare Lesion [NCIt concept]
disease_has_molecular_abnormality
- Germline CYLD Gene Mutation [NCIt concept]
disease_has_primary_anatomic_site
- Skin [NCIt concept]
disease_mapped_to_gene
- CYLD Gene [NCIt concept]

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