Turcot Syndrome Type 2

Preferred Label : Turcot Syndrome Type 2;

NCIt definition : An autosomal dominant hereditary neoplastic syndrome caused by mutations in the APC gene. It is characterized by the presence of medulloblastoma and familiar adenomatous polyposis.;

Details

Origin ID

C40464;

UMLS CUI

C1519703;

Semantic type(s)
- Neoplastic Process [UMLS semantic type]
disease_has_associated_disease
- Familial Adenomatous Polyposis [NCIt concept]
- Malignant Central Nervous System Neoplasm [NCIt concept]
- Medulloblastoma [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_has_molecular_abnormality
- Inactivating APC Gene Mutation [NCIt concept]
disease_mapped_to_gene
- APC Gene [NCIt concept]
disease_may_have_associated_disease
- Colorectal Adenoma [NCIt concept]
- Colorectal Carcinoma [NCIt concept]
pathogenesis_of_disease_involves_gene
- APC Gene [NCIt concept]
- APC wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients