ONTOLOGY REPORT - ANNOTATIONS


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
 alt_id: RDO:0004561
 xref: GARD:6902;   OMIM:PS151623;   ORDO:524
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Li-Fraumeni syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chek2 checkpoint kinase 2 JBrowse link 12 51,845,574 51,878,098 RGD:11554173
RGD:8554872
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:2290542
RGD:8554872
RGD:11554173
G Wrap53 WD repeat containing, antisense to TP53 JBrowse link 10 56,169,024 56,185,800 RGD:8554872
Li-Fraumeni Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:7240710
RGD:8554872
Li-Fraumeni Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chek2 checkpoint kinase 2 JBrowse link 12 51,845,574 51,878,098 RGD:7240710
RGD:8554872
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:8554872
Li-Fraumeni-Like Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      Li-Fraumeni syndrome 3
        Li-Fraumeni Syndrome 1 1
        Li-Fraumeni Syndrome 2 2
        Li-Fraumeni-Like Syndrome 1
Path 2
Term Annotations click to browse term
  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        genetic disease 5997
          monogenic disease 2855
            autosomal genetic disease 2137
              autosomal dominant disease 1098
                Li-Fraumeni syndrome 3
                  Li-Fraumeni Syndrome 1 1
                  Li-Fraumeni Syndrome 2 2
                  Li-Fraumeni-Like Syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.