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RGD uses the Human Disease Ontology (DO, 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 2
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Accession:DOID:0111504 term browser browse the term
Definition:A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in CHEK2 on chromosome 22q12.1. (DO)
Synonyms:exact_synonym: LFS2
 related_synonym: Breast and colorectal cancer, susceptibility to
 primary_id: MESH:C563755
 alt_id: OMIM:609265
For additional species annotation, visit the Alliance of Genome Resources.

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Li-Fraumeni syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by OMIM:609265
ClinVar Annotator: match by term: Breast and colorectal cancer, susceptibility to
ClinVar Annotator: match by term: Li-Fraumeni syndrome 2
PMID:10617473, PMID:11053450, PMID:11298456, PMID:11390408, PMID:11461078, PMID:11479205, PMID:11571648, PMID:11719428, PMID:11901158, PMID:11967536, PMID:12049740, PMID:12094328, PMID:12533788, PMID:12610780, PMID:12690581, PMID:12805407, PMID:12909615, PMID:14612911, PMID:14648717, PMID:14648718, PMID:14648719, PMID:15087378, PMID:15095295, PMID:15122511, PMID:15239132, PMID:15488637, PMID:15492928, PMID:15520402, PMID:15535844, PMID:15649950, PMID:15803365, PMID:15810020, PMID:16257342, PMID:16492927, PMID:16551709, PMID:16574953, PMID:16794575, PMID:16816021, PMID:16835864, PMID:16880452, PMID:16883537, PMID:16914568, PMID:16941491, PMID:16982735, PMID:17085682, PMID:17517688, PMID:17721994, PMID:18004398, PMID:18058223, PMID:18085035, PMID:18172190, PMID:18281249, PMID:18484200, PMID:18571837, PMID:18706089, PMID:18725978, PMID:18930998, PMID:18996005, PMID:19030985, PMID:19338683, PMID:19782031, PMID:19805189, PMID:19876921, PMID:20223004, PMID:20643596, PMID:21059199, PMID:21244692, PMID:21356067, PMID:21514219, PMID:21618645, PMID:21701879, PMID:21744992, PMID:21778326, PMID:21807500, PMID:21876083, PMID:21956126, PMID:22006311, PMID:22058428, PMID:22114986, PMID:22419737, PMID:22799331, PMID:22811390, PMID:22862163, PMID:22901170, PMID:22994785, PMID:23296741, PMID:23318652, PMID:23334666, PMID:23469205, PMID:23552953, PMID:23713947, PMID:23806170, PMID:23960188, PMID:24033266, PMID:24082139, PMID:24390236, PMID:24506336, PMID:24549055, PMID:24595525, PMID:24599715, PMID:24713400, PMID:24728327, PMID:24879340, PMID:24880342, PMID:24884479, PMID:25117502, PMID:25186627, PMID:25231023, PMID:25318351, PMID:25326637, PMID:25431674, PMID:25452411, PMID:25452441, PMID:25503501, PMID:25525159, PMID:25583358, PMID:25629968, PMID:25741868, PMID:25798211, PMID:25884806, PMID:25980754, PMID:26083025, PMID:26084796, PMID:26270727, PMID:26446916, PMID:26467025, PMID:26483394, PMID:26506619, PMID:26580448, PMID:26641009, PMID:26681312, PMID:26687385, PMID:26787654, PMID:26822237, PMID:26822949, PMID:26845104, PMID:26884562, PMID:26898890, PMID:26976419, PMID:27067391, PMID:27083775, PMID:27153395, PMID:27269948, PMID:27296296, PMID:27318168, PMID:27433846, PMID:27442652, PMID:27443514, PMID:27488870, PMID:27595995, PMID:27616075, PMID:27621404, PMID:27632928, PMID:27696107, PMID:27711073, PMID:27716369, PMID:27751358, PMID:27779110, PMID:27782108, PMID:27783279, PMID:27798748, PMID:27806230, PMID:27878467, PMID:27978560, PMID:28008555, PMID:28125075, PMID:28135139, PMID:28135145, PMID:28195393, PMID:28211887, PMID:28486781, PMID:28492532, PMID:28495237, PMID:28503720, PMID:28514723, PMID:28553140, PMID:28580595, PMID:28724667, PMID:28727877, PMID:28734145, PMID:28779002, PMID:28802053, PMID:28828701, PMID:28873162, PMID:28874143, PMID:28944238, PMID:28961279, PMID:28981386, PMID:29020732, PMID:29146883, PMID:29335925, PMID:29338689, PMID:29351919, PMID:29356917, PMID:29368341, PMID:29470806, PMID:29479983, PMID:29489754, PMID:29506128, PMID:29520813, PMID:29522266, PMID:29555771, PMID:29596542, PMID:29667044, PMID:29684080, PMID:29785153, PMID:29902706, PMID:29909963, PMID:29922827, PMID:29945567, PMID:29958926, PMID:30128536, PMID:30152102, PMID:30287823, PMID:30311386, PMID:30344923, PMID:30374176, PMID:30426508, PMID:30441849, PMID:30580288, PMID:30680046, PMID:30851065, PMID:30858171, PMID:30967556, PMID:31050813, PMID:31263571, PMID:31341520, PMID:31398194, PMID:31415627, PMID:31422574, PMID:31784482, PMID:31843900, PMID:32566746 NCBI chr12:51,845,574...51,878,098
Ensembl chr12:51,845,796...51,877,624
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      Li-Fraumeni syndrome 31
        Li-Fraumeni syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          monogenic disease 5714
            autosomal genetic disease 4732
              autosomal dominant disease 3036
                Li-Fraumeni syndrome 31
                  Li-Fraumeni syndrome 2 1
paths to the root


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