Tumor predisposition syndrome 4

Preferred Label : Tumor predisposition syndrome 4;

Symbol : TPDS4;

CISMeF acronym : LFS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cancer predisposition syndrome, chek2-related; Li-fraumeni syndrome 2; LFS2;

Prefixed ID : #609265;

Détails

Origin ID

609265;

UMLS CUI

C5882668;

Automatic exact mappings (from CISMeF team)
- CHEK2 wt Allele [NCIt concept]
- Li-Fraumeni syndrome 2 [DO Concept]
Broader ORDO disease(s)
- Li-Fraumeni syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- CHEK2-Associated Li-Fraumeni-Like Syndrome [NCIt concept]
- Li-Fraumeni syndrome 2 [MeSH concept]
- Li-Fraumeni syndrome 2 [MeSH Supplementary Concept]
DO Cross reference
- Li-Fraumeni syndrome 2 [DO Concept]
Genes related to phenotype
- Checkpoint kinase 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Breast carcinoma [HPO term]
- Glioma [HPO term]
- Meningioma [HPO term]
- Sarcoma [HPO term]
- Stomach cancer [HPO term]
ORDO concept(s)
- Li-Fraumeni syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CHEK2-Associated Li-Fraumeni-Like Syndrome [NCIt concept]
- Li-Fraumeni syndrome 2 [MeSH Supplementary Concept]
- Li-Fraumeni syndrome 2 [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

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