Familial Cylindromatosis

Preferred Label : Familial Cylindromatosis;

NCIt synonyms : FC;

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 cylindromas, usually in the skin of the scalp.;

NCI Metathesaurus CUI : CL497471;

Details

Origin ID

C205363;

disease_has_associated_disease
- Cylindroma [NCIt concept]
- Skin Appendage Neoplasm [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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