Metadata | |
---|---|
ID | DOID:0111503 |
Name | Li-Fraumeni syndrome 1 |
Definition | A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in the TP53 gene on chromosome 17p13.1. https://www.ncbi.nlm.nih.gov/pubmed/1978757 |
Xrefs | |
Synonyms |
LFS1 [EXACT] |
Parent Relationships |
is_a Li-Fraumeni syndrome |