CHEK2-Associated Li-Fraumeni-Like Syndrome

Preferred Label : CHEK2-Associated Li-Fraumeni-Like Syndrome;

NCIt synonyms : Li-Fraumeni Syndrome, CHEK2-Associated; Li-Fraumeni Syndrome 2; Li-Fraumeni-Like Syndrome;

NCIt related terms : CHEK2-Associated Cancer Predisposition; CHEK2-Associated Li-Fraumeni Syndrome;

NCIt definition : An autosomal dominant cancer predisposition syndrome caused by germline mutations of the CHEK2 gene. It is associated with breast carcinoma, gastric carcinoma, colorectal carcinoma, thyroid gland carcinoma, kidney carcinoma, prostate carcinoma, and non-Hodgkin lymphoma.;

Details

Origin ID

C176588;

UMLS CUI

C1836482;

Automatic exact mappings (from CISMeF team)
- Li-Fraumeni syndrome 2 [DO Concept]
- Li-Fraumeni-Like syndrome [MeSH concept]
- Li-Fraumeni-Like syndrome [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Li-Fraumeni syndrome 2 [MeSH Supplementary Concept]
- Li-Fraumeni syndrome 2 [MeSH concept]
- Li-fraumeni syndrome 2 [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Li-Fraumeni syndrome 2 [MeSH Supplementary Concept]
- Li-Fraumeni syndrome 2 [MeSH concept]
- Li-fraumeni syndrome 2 [OMIM Phenotype]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_has_molecular_abnormality
- CHEK2 Gene Mutation [NCIt concept]
disease_mapped_to_gene
- CHEK2 Gene [NCIt concept]
disease_may_have_associated_disease
- Breast Carcinoma [NCIt concept]
- Colorectal Carcinoma [NCIt concept]
- Gastric Carcinoma [NCIt concept]
- Kidney Carcinoma [NCIt concept]
- Non-Hodgkin Lymphoma [NCIt concept]
- Prostate Carcinoma [NCIt concept]
- Thyroid Gland Carcinoma [NCIt concept]
pathogenesis_of_disease_involves_gene
- CHEK2 Gene [NCIt concept]
- CHEK2 wt Allele [NCIt concept]
related_to_genetic_biomarker
- CHEK2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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