TP53-Associated Li-Fraumeni Syndrome

Preferred Label : TP53-Associated Li-Fraumeni Syndrome;

Obsolete resource : true;

NCIt synonyms : Li-Fraumeni Syndrome, TP53-Associated;

NCIt definition : An autosomal dominant cancer predisposition syndrome caused by germline mutations of the TP53 gene. It is associated with breast carcinoma, choroid plexus carcinoma, adrenal cortex carcinoma, astrocytic tumors, medulloblastoma, soft tissue sarcoma, osteosarcoma, and leukemia.;

NCIt note : See 'Li-Fraumeni Syndrome(C3476)';

Concept status : Retired_Concept;

NCI Metathesaurus CUI : CL1642412;

Details

Origin ID

C176587;

UMLS CUI

C5447317;

Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
disease_has_finding
- Hereditary Lesion [NCIt concept]

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