Medical Subject Headings

Last uploaded: January 31, 2024
Jump to:
loading...
Preferred Name

Li-Fraumeni Syndrome
Synonyms

Li Fraumeni Syndrome
Definitions

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.
ID

http://purl.bioontology.org/ontology/MESH/D016864
altLabel

Li Fraumeni Syndrome
AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
cui

C0085390
DC

1
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.
DX

19920101
FX

D016158
HN

92
Inverse of AQ

http://purl.bioontology.org/ontology/MESH/Q000097

http://purl.bioontology.org/ontology/MESH/Q000178

http://purl.bioontology.org/ontology/MESH/Q000175

http://purl.bioontology.org/ontology/MESH/Q000628

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000134

http://purl.bioontology.org/ontology/MESH/Q000139

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000378

http://purl.bioontology.org/ontology/MESH/Q000517

http://purl.bioontology.org/ontology/MESH/Q000662

http://purl.bioontology.org/ontology/MESH/Q000469

http://purl.bioontology.org/ontology/MESH/Q000150

http://purl.bioontology.org/ontology/MESH/Q000821

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000196

http://purl.bioontology.org/ontology/MESH/Q000473

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000382

http://purl.bioontology.org/ontology/MESH/Q000451

http://purl.bioontology.org/ontology/MESH/Q000453

http://purl.bioontology.org/ontology/MESH/Q000534

http://purl.bioontology.org/ontology/MESH/Q000532

http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/Q000188

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000201

http://purl.bioontology.org/ontology/MESH/Q000209

http://purl.bioontology.org/ontology/MESH/Q000208

http://purl.bioontology.org/ontology/MESH/Q000601

http://purl.bioontology.org/ontology/MESH/Q000000981

http://purl.bioontology.org/ontology/MESH/Q000652

http://purl.bioontology.org/ontology/MESH/Q000523

http://purl.bioontology.org/ontology/MESH/Q000401
Inverse of RO

http://purl.bioontology.org/ontology/MESH/D016158
Machine permutation

92
Mapped from

http://purl.bioontology.org/ontology/MESH/C567189

http://purl.bioontology.org/ontology/MESH/C538639

http://purl.bioontology.org/ontology/MESH/C563755

http://purl.bioontology.org/ontology/MESH/C563754
MDA

19910621
MMR

20180629
MN

C16.320.700.600

C18.452.284.520

C04.700.600
notation

D016864
prefLabel

Li-Fraumeni Syndrome
TERMUI

T050495
TH

NLM (1992)

GHR (2014)

ORD (2010)
tui

T047
subClassOf

http://purl.bioontology.org/ontology/MESH/D009386

http://purl.bioontology.org/ontology/MESH/D049914
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/SNOMEDCT/428850001 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRFRE/10066795 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10066795 MEDDRA CUI
http://purl.bioontology.org/ontology/OMIM/151623 OMIM CUI
http://purl.bioontology.org/ontology/SCTSPA/428850001 SCTSPA CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000042844 PDQ CUI
http://purl.bioontology.org/ontology/MDRGER/10066795 MDRGER CUI
http://purl.bioontology.org/ontology/MSHFRE/D016864 MSHFRE CUI
http://purl.bioontology.org/ontology/NDFRT/N0000003489 NDFRT CUI
http://purl.bioontology.org/ontology/CSP/4006-0058 CRISP CUI
http://purl.obolibrary.org/obo/MONDO_0018875 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0018875 EFO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D016864 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_3012 DTO LOOM
http://purl.obolibrary.org/obo/DOID_3012 DOID LOOM
http://purl.obolibrary.org/obo/DOID_3012 BAO LOOM
http://purl.obolibrary.org/obo/DOID_3012 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_3012 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_3012 FNS-H LOOM
http://identifiers.org/omim/151623 REXO LOOM
http://identifiers.org/omim/151623 GEXO LOOM
http://identifiers.org/omim/151623 RETO LOOM
http://purl.obolibrary.org/obo/OMIT_0017298 OMIT LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_3012 NATPRO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/428850001 SNOMEDCT LOOM
http://www.limics.org/hrdo/rdfns#pat_id_196 HRDO LOOM
http://id.nlm.nih.gov/mesh/D016864 MDM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.700.600 RH-MESH LOOM
http://purl.obolibrary.org/obo/NCIT_C3476 BERO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038518 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10066795 MEDDRA LOOM
urn:agi-pathway:uuid-1c2f5666-fb0e-41b4-96de-9a61d39ffca8 BPT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3476 NCIT LOOM
http://purl.bioontology.org/ontology/OMIM/151623 OMIM LOOM
http://www.orpha.net/ORDO/Orphanet_524 ORDO LOOM
http://purl.jp/bio/4/id/200906098156792760 IOBC LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000042844 PDQ LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#15578 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.284.520 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0085390 OCHV LOOM
http://purl.obolibrary.org/obo/MONDO_0018875 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0018875 DOVES LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.700.600 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIM_151623 CCO LOOM
http://www.gamuts.net/entity#Li_Fraumeni_syndrome GAMUTS LOOM
http://purl.bioontology.org/ontology/CSP/4006-0058 CRISP LOOM