Li-Fraumeni syndrome
LFS
exact
LFS1
related
LFS3
related
Li Fraumeni syndrome
exact
Li-Fraumeni familial cancer susceptibility syndrome
exact
Li-Fraumeni syndrome
exact
Li-Fraumeni syndrome caused by mutation in TP53
exact
SBLA syndrome
exact
SBLA syndrome (sarcoma, breast, leukemia, and adrenal gland)
related
TP53 Li-Fraumeni syndrome
exact
TP53-related Li-Fraumeni syndrome
exact
sarcoma family syndrome of Li and Fraumeni
related
sarcoma, breast, leukemia and adrenal gland syndrome
exact
An autosomal dominant cancer predisposition disorder caused by pathogenic variants in the TP53 gene, characterized by an increased risk of a wide range of cancers, including but not limited to breast cancer, soft tissue sarcomas, osteosarcomas, brain tumors, adrenocortical carcinoma and leukemias.
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0015356
hereditary neoplastic syndrome
is_a
MONDO:0100545
hereditary neurological disease
is_a
SPCC18B5.11c