CYLD Cutaneous Syndrome

Preferred Label : CYLD Cutaneous Syndrome;

NCIt synonyms : CCS;

NCIt definition : The development of multiple skin tumors including cylindromas, spiradenomas, trichoepitheliomas, and rarely, basal cell adenoma of the salivary gland. It usually manifests in the second or third decade. The tumors typically arise from the scalp and face but can also arise from the torso and sun-protected sites. It is caused by germline mutations of the tumor suppressor gene CYLD.;

NCI Metathesaurus CUI : CL1927491;

Details

Origin ID

C205541;

Automatic exact mappings (from CISMeF team)
- Copper chaperone for superoxide dismutase [OMIM gene]
- Cronkhite-Canada Syndrome [MeSH Descriptor]
- calcarine sulcus [UBERON concept]
- capsanthin synthase activity [GO term]
- capsorubin synthase activity [GO term]
Currated CISMeF NLP mapping
- Brooke Spiegler syndrome [Disease (Nov.)]
- Brooke-Spiegler syndrome [ORDO Disease]
- Brooke-Spiegler syndrome [DO Concept]
- Brooke-Spiegler syndrome [MeSH concept]
- Brooke-Spiegler syndrome [PASCAL descriptor]
- Brooke-Spiegler syndrome [MedDRA Preferred Term]
- Brooke-Spiegler syndrome (disorder) [SNOMED CT concept]
- Brooke-spiegler syndrome [OMIM Phenotype]
disease_has_associated_disease
- Skin Adnexal 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]
pathogenesis_of_disease_involves_gene
- CYLD Gene [NCIt concept]
- CYLD wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

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