Li-Fraumeni Syndrome

Preferred Label : Li-Fraumeni Syndrome;

NCIt synonyms : Li-Fraumeni Familial Cancer Susceptibility Syndrome; Li-Fraumeni Syndrome, TP53-Associated; TP53-Associated Li-Fraumeni Syndrome;

NCIt related terms : Li-Fraumeni;

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.;

Alternative definition : NCI-GLOSS: A rare, inherited predisposition to multiple cancers, caused by an alteration in the p53 tumor suppressor gene.;

Codes from synonyms : CDR0000046322;

Details

Origin ID

C3476;

UMLS CUI

C0085390;

Currated CISMeF NLP mapping
- Li Fraumeni syndrome [Disease (Nov.)]
- Li-Fraumeni syndrome [PASCAL descriptor]
- Li-Fraumeni syndrome [DO Concept]
- Li-Fraumeni syndrome [ICD-11 More detail]
- Li-Fraumeni syndrome [MedDRA Preferred Term]
- Li-Fraumeni syndrome [MeSH concept]
- Li-Fraumeni syndrome [ORDO Disease]
- Li-Fraumeni syndrome (disorder) [SNOMED CT concept]
- Li-fraumeni syndrome [OMIM phenotypic series]
- li-fraumeni syndrome [MeSH Descriptor]
DO Cross reference
- Li-Fraumeni syndrome [DO Concept]
See also inter- (CISMeF)
- tumor protein p53 [ORDO Gene]
- tumor protein p53 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Li Fraumeni syndrome [Disease (Nov.)]
- Li-Fraumeni syndrome [ORDO Disease]
- Li-Fraumeni syndrome [PASCAL descriptor]
- Li-Fraumeni syndrome [DO Concept]
- Li-Fraumeni syndrome [MeSH concept]
- Li-Fraumeni syndrome [MedDRA Preferred Term]
- Li-Fraumeni syndrome (disorder) [SNOMED CT concept]
- Li-fraumeni syndrome [OMIM Phenotype]
- li-fraumeni syndrome [MeSH Descriptor]
Validated automatic mappings to BTNT
- Li-fraumeni syndrome [OMIM Phenotype]
associated_with_malfunction_of_gene_product
- Cellular Tumor Antigen p53 [NCIt concept]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
- EWS Authorized Value Terminology [NCIt concept]
- EWS Medical History Table [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
- HL Authorized Value Terminology [NCIt concept]
- HL Medical History Table [NCIt concept]
- OS Authorized Value Terminology [NCIt concept]
- OS Medical History Table [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_has_molecular_abnormality
- TP53 Gene Mutation [NCIt concept]
disease_mapped_to_gene
- TP53 Gene [NCIt concept]
disease_may_have_associated_disease
- Adrenal Cortical Carcinoma [NCIt concept]
- Breast Carcinoma [NCIt concept]
- Choroid Plexus Carcinoma [NCIt concept]
- Leukemia [NCIt concept]
- Medulloblastoma [NCIt concept]
- Osteosarcoma [NCIt concept]
- Soft Tissue Sarcoma [NCIt concept]
pathogenesis_of_disease_involves_gene
- TP53 Gene [NCIt concept]
- TP53 wt Allele [NCIt concept]
- TP53*1 Allele [NCIt concept]
related_to_genetic_biomarker
- TP53 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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