FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Li-Fraumeni syndrome ID (Ontology) DOID:3012 (Human Disease)
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.
Also Known As "LFS" ; "Li-Fraumeni Familiar cancer Susceptibility syndrome" ; "sarcoma, breast, leukaemia and adrenal gland syndrome" (for all, see Synonyms field below)
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DO.org
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Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
disease                         |
 |__syndrome____________________|
                                Li-Fraumeni syndrome  3 rec.
                                 |__Li-Fraumeni syndrome 1 2 rec.
                                 |__Li-Fraumeni syndrome 2 1 rec.
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Is a autosomal dominant disease
syndrome
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Synonyms
  • "LFS" EXACT OMO:0003012
    "Li-Fraumeni Familiar cancer Susceptibility syndrome" EXACT
    "sarcoma, breast, leukaemia and adrenal gland syndrome" EXACT
    "SBLA syndrome" EXACT
Secondary IDs
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GARD:6902
MESH:D016864
MIM:PS151623
NCI:C3476
ORDO:524
SNOMEDCT_US_2023_03_01:428850001
UMLS_CUI:C0085390