Matches in DBpedia 2016-04 for { <http://dbpedia.org/resource/Li–Fraumeni_syndrome> ?p ?o }
- Li–Fraumeni_syndrome abstract "Li–Fraumeni syndrome is a rare cancer predisposition hereditary disorder characterized as autosomal dominant. It was named after two American physicians, Frederick Pei Li and Joseph F. Fraumeni, Jr., who first recognized the syndrome after reviewing the medical records and death certificates of 648 childhood rhabdomyosarcoma patients. This syndrome is also known as the sarcoma, breast, leukaemia and adrenal gland (SBLA) syndrome.The syndrome is linked to germline mutations of the p53 tumor suppressor gene, which encodes a transcription factor (p53) that normally regulates the cell cycle and prevents genomic mutations. The mutations can be inherited, or can arise from de novo mutations early in embryogenesis, or in one of the parent's germ cells.".
- Li–Fraumeni_syndrome icd9 "758.3".
- Li–Fraumeni_syndrome meshId "D016864".
- Li–Fraumeni_syndrome omim "151623".
- Li–Fraumeni_syndrome wikiPageExternalLink lifraumenisyndrome.
- Li–Fraumeni_syndrome wikiPageExternalLink 151623.
- Li–Fraumeni_syndrome wikiPageExternalLink li-fraumeni.
- Li–Fraumeni_syndrome wikiPageExternalLink www.tp53.co.uk.
- Li–Fraumeni_syndrome wikiPageID "1009951".
- Li–Fraumeni_syndrome wikiPageLength "17661".
- Li–Fraumeni_syndrome wikiPageOutDegree "47".
- Li–Fraumeni_syndrome wikiPageRevisionID "707257530".
- Li–Fraumeni_syndrome wikiPageWikiLink Adrenocortical_carcinoma.
- Li–Fraumeni_syndrome wikiPageWikiLink Apoptosis.
- Li–Fraumeni_syndrome wikiPageWikiLink Brain_tumor.
- Li–Fraumeni_syndrome wikiPageWikiLink CHEK2.
- Li–Fraumeni_syndrome wikiPageWikiLink Category:Cancer.
- Li–Fraumeni_syndrome wikiPageWikiLink Category:DNA_replication_and_repair-deficiency_disorders.
- Li–Fraumeni_syndrome wikiPageWikiLink Category:Hereditary_cancers.
- Li–Fraumeni_syndrome wikiPageWikiLink Category:Rare_diseases.
- Li–Fraumeni_syndrome wikiPageWikiLink Category:Syndromes.
- Li–Fraumeni_syndrome wikiPageWikiLink Category:Transcription_factor_deficiencies.
- Li–Fraumeni_syndrome wikiPageWikiLink Cell_cycle.
- Li–Fraumeni_syndrome wikiPageWikiLink Choroid_plexus.
- Li–Fraumeni_syndrome wikiPageWikiLink Colorectal_cancer.
- Li–Fraumeni_syndrome wikiPageWikiLink Dominance_(genetics).
- Li–Fraumeni_syndrome wikiPageWikiLink Embryogenesis.
- Li–Fraumeni_syndrome wikiPageWikiLink Frederick_Pei_Li.
- Li–Fraumeni_syndrome wikiPageWikiLink Genetic_counseling.
- Li–Fraumeni_syndrome wikiPageWikiLink Genetic_disorder.
- Li–Fraumeni_syndrome wikiPageWikiLink Genetic_testing.
- Li–Fraumeni_syndrome wikiPageWikiLink Germ_cell.
- Li–Fraumeni_syndrome wikiPageWikiLink Germline_mutation.
- Li–Fraumeni_syndrome wikiPageWikiLink Glioblastoma_multiforme.
- Li–Fraumeni_syndrome wikiPageWikiLink Johns_Hopkins_University.
- Li–Fraumeni_syndrome wikiPageWikiLink Joseph_F._Fraumeni,_Jr..
- Li–Fraumeni_syndrome wikiPageWikiLink Leukemia.
- Li–Fraumeni_syndrome wikiPageWikiLink Lymphoma.
- Li–Fraumeni_syndrome wikiPageWikiLink Malignancy.
- Li–Fraumeni_syndrome wikiPageWikiLink Missense_mutation.
- Li–Fraumeni_syndrome wikiPageWikiLink Mullers_morphs.
- Li–Fraumeni_syndrome wikiPageWikiLink Mutation.
- Li–Fraumeni_syndrome wikiPageWikiLink National_Institutes_of_Health.
- Li–Fraumeni_syndrome wikiPageWikiLink OSLAM_syndrome.
- Li–Fraumeni_syndrome wikiPageWikiLink Online_Mendelian_Inheritance_in_Man.
- Li–Fraumeni_syndrome wikiPageWikiLink Osteosarcoma.
- Li–Fraumeni_syndrome wikiPageWikiLink P53.
- Li–Fraumeni_syndrome wikiPageWikiLink Penetrance.
- Li–Fraumeni_syndrome wikiPageWikiLink Proband.
- Li–Fraumeni_syndrome wikiPageWikiLink Rhabdomyosarcoma.
- Li–Fraumeni_syndrome wikiPageWikiLink Tetramer.
- Li–Fraumeni_syndrome wikiPageWikiLink Tumor_suppressor_gene.
- Li–Fraumeni_syndrome wikiPageWikiLink United_States_National_Library_of_Medicine.
- Li–Fraumeni_syndrome wikiPageWikiLink University_of_Washington.
- Li–Fraumeni_syndrome wikiPageWikiLinkText "Li–Fraumeni syndrome".
- Li–Fraumeni_syndrome diseasesdb "7450".
- Li–Fraumeni_syndrome emedicinesubj "ped".
- Li–Fraumeni_syndrome emedicinetopic "1305".
- Li–Fraumeni_syndrome icd "758.3".
- Li–Fraumeni_syndrome meshid "D016864".
- Li–Fraumeni_syndrome name "Li–Fraumeni syndrome".
- Li–Fraumeni_syndrome omim "151623".
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- Li–Fraumeni_syndrome subject Category:Cancer.
- Li–Fraumeni_syndrome subject Category:DNA_replication_and_repair-deficiency_disorders.
- Li–Fraumeni_syndrome subject Category:Hereditary_cancers.
- Li–Fraumeni_syndrome subject Category:Rare_diseases.
- Li–Fraumeni_syndrome subject Category:Syndromes.
- Li–Fraumeni_syndrome subject Category:Transcription_factor_deficiencies.
- Li–Fraumeni_syndrome hypernym Disorder.
- Li–Fraumeni_syndrome type Disease.
- Li–Fraumeni_syndrome type Type.
- Li–Fraumeni_syndrome type Deficiency.
- Li–Fraumeni_syndrome type Disorder.
- Li–Fraumeni_syndrome type Redirect.
- Li–Fraumeni_syndrome type Syndrome.
- Li–Fraumeni_syndrome type Type.
- Li–Fraumeni_syndrome type Thing.
- Li–Fraumeni_syndrome type Q12136.
- Li–Fraumeni_syndrome comment "Li–Fraumeni syndrome is a rare cancer predisposition hereditary disorder characterized as autosomal dominant. It was named after two American physicians, Frederick Pei Li and Joseph F. Fraumeni, Jr., who first recognized the syndrome after reviewing the medical records and death certificates of 648 childhood rhabdomyosarcoma patients.".
- Li–Fraumeni_syndrome label "Li–Fraumeni syndrome".
- Li–Fraumeni_syndrome sameAs Q187542.
- Li–Fraumeni_syndrome sameAs متلازمه_لي-فراوميني.
- Li–Fraumeni_syndrome sameAs Syndrom_Li-Fraumeni.