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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;   NCI:C3476;   OMIM:PS151623;   ORDO:524
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Li-Fraumeni syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alox12b arachidonate 12-lipoxygenase, 12R type JBrowse link 10 55,744,646 55,756,524 RGD:8554872
G Alox15b arachidonate 15-lipoxygenase, type B JBrowse link 10 55,773,748 55,783,489 RGD:8554872
G Aloxe3 arachidonate lipoxygenase 3 JBrowse link 10 55,711,996 55,735,915 RGD:8554872
G Arhgef15 Rho guanine nucleotide exchange factor 15 JBrowse link 10 55,532,097 55,545,675 RGD:8554872
G Aurkb aurora kinase B JBrowse link 10 55,625,860 55,632,399 RGD:8554872
G Borcs6 BLOC-1 related complex subunit 6 JBrowse link 10 55,642,070 55,643,924 RGD:8554872
G Chd3 chromodomain helicase DNA binding protein 3 JBrowse link 10 55,943,467 55,970,417 RGD:8554872
G Chek2 checkpoint kinase 2 JBrowse link 12 51,845,574 51,878,098 RGD:11554173
RGD:8554872
G Cntrob centrobin, centriole duplication and spindle assembly protein JBrowse link 10 55,901,929 55,927,121 RGD:8554872
G Ctc1 CST telomere replication complex component 1 JBrowse link 10 55,596,172 55,616,873 RGD:8554872
G Cyb5d1 cytochrome b5 domain containing 1 JBrowse link 10 55,993,206 55,997,429 RGD:8554872
G Dnah2 dynein, axonemal, heavy chain 2 JBrowse link 10 56,029,022 56,154,602 RGD:8554872
G Efnb3 ephrin B3 JBrowse link 10 56,161,431 56,168,819 RGD:8554872
G Gucy2d guanylate cyclase 2D, retinal JBrowse link 10 55,835,695 55,851,235 RGD:8554872
G Hes7 hes family bHLH transcription factor 7 JBrowse link 10 55,704,485 55,710,523 RGD:8554872
G Kcnab3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 JBrowse link 10 55,927,228 55,933,653 RGD:8554872
G Kdm6b lysine demethylase 6B JBrowse link 10 56,000,494 56,009,582 RGD:8554872
G Naa38 N(alpha)-acetyltransferase 38, NatC auxiliary subunit JBrowse link 10 55,997,614 55,998,691 RGD:8554872
G Odf4 outer dense fiber of sperm tails 4 JBrowse link 10 55,510,333 55,516,315 RGD:8554872
G Per1 period circadian regulator 1 JBrowse link 10 55,681,761 55,696,557 RGD:8554872
G Pfas phosphoribosylformylglycinamidine synthase JBrowse link 10 55,571,881 55,593,384 RGD:8554872
G Rangrf RAN guanine nucleotide release factor JBrowse link 10 55,559,049 55,560,420 RGD:8554872
G Rnf227 ring finger protein 227 JBrowse link 10 55,940,533 55,941,205 RGD:8554872
G Rpl26 ribosomal protein L26 JBrowse link 10 55,492,417 55,495,547 RGD:8554872
G Slc25a35 solute carrier family 25, member 35 JBrowse link 10 55,554,911 55,559,083 RGD:8554872
G Tmem107 transmembrane protein 107 JBrowse link 10 55,653,694 55,656,270 RGD:8554872
G Tmem88 transmembrane protein 88 JBrowse link 10 55,998,530 56,000,225 RGD:8554872
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:2290542
RGD:8554872
RGD:11554173
G Trappc1 trafficking protein particle complex 1 JBrowse link 10 55,924,996 55,926,582 RGD:8554872
G Vamp2 vesicle-associated membrane protein 2 JBrowse link 10 55,675,171 55,679,405 RGD:8554872
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 15619
    syndrome 5154
      Li-Fraumeni syndrome 31
        Li-Fraumeni Syndrome 1 1
        Li-Fraumeni Syndrome 2 2
        Li-Fraumeni-Like Syndrome 1
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal dominant disease 2079
                Li-Fraumeni syndrome 31
                  Li-Fraumeni Syndrome 1 1
                  Li-Fraumeni Syndrome 2 2
                  Li-Fraumeni-Like Syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.