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Summary Literature (1)
DOID:3012 - Li-Fraumeni syndrome


Disease Ontology Definition:A syndrome characterized by autosomal dominant inheritance of increased risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata.

Synonyms: Li-Fraumeni Familiar cancer Susceptibility syndrome, SBLA syndrome, sarcoma, breast, leukaemia and adrenal gland syndrome

Xenbase Genes : tp53, chek2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0018875 - Li-Fraumeni syndrome

OMIM:
OMIM:151623 - LI-FRAUMENI SYNDROME; LFS
OMIM:609265 - LI-FRAUMENI SYNDROME 2; LFS2

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), syndrome (is_a)