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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Li-Fraumeni syndrome
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Accession:DOID:3012 term browser browse the term
Definition:Rare autosomal dominant syndrome characterized by mesenchymal and epithelial neoplasms at multiple sites. MUTATION of the p53 tumor suppressor gene, a component of the DNA DAMAGE response pathway, apparently predisposes family members who inherit it to develop certain cancers. The spectrum of cancers in the syndrome was shown to include, in addition to BREAST CANCER and soft tissue sarcomas (SARCOMA); BRAIN TUMORS; OSTEOSARCOMA; LEUKEMIA; and ADRENOCORTICAL CARCINOMA.
Synonyms:exact_synonym: Li-Fraumeni familiar cancer susceptibility syndrome;   SBLA syndrome;   sarcoma family syndrome of Li and Fraumeni;   sarcoma, breast, leukaemia and adrenal gland syndrome;   sarcoma, breast, leukemia, and adrenal gland (SBLA) syndrome
 primary_id: MESH:D016864
 xref: GARD:6902;   NCI:C3476;   OMIM:PS151623;   ORDO:524
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 0
    syndrome 0
      Li-Fraumeni syndrome 0
        Li-Fraumeni syndrome 1 0
        Li-Fraumeni syndrome 2 0
        Li-Fraumeni-Like Syndrome 0
Path 2
Term Annotations click to browse term
  disease 0
    Developmental Diseases 0
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0
        genetic disease 0
          monogenic disease 0
            autosomal genetic disease 0
              autosomal dominant disease 0
                Li-Fraumeni syndrome 0
                  Li-Fraumeni syndrome 1 0
                  Li-Fraumeni syndrome 2 0
                  Li-Fraumeni-Like Syndrome 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.