Medical Subject Headings

Last uploaded: November 5, 2019
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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/Q000401

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

http://purl.bioontology.org/ontology/MESH/Q000469
Inverse of RO

http://purl.bioontology.org/ontology/MESH/D016158
Inverse of SIB

http://purl.bioontology.org/ontology/MESH/D001816

http://purl.bioontology.org/ontology/MESH/D014898

http://purl.bioontology.org/ontology/MESH/D049932

http://purl.bioontology.org/ontology/MESH/D061325

http://purl.bioontology.org/ontology/MESH/D014983

http://purl.bioontology.org/ontology/MESH/D001260

http://purl.bioontology.org/ontology/MESH/D009396

http://purl.bioontology.org/ontology/MESH/D017253

http://purl.bioontology.org/ontology/MESH/D014402

http://purl.bioontology.org/ontology/MESH/D006223

http://purl.bioontology.org/ontology/MESH/D058249

http://purl.bioontology.org/ontology/MESH/D004416

http://purl.bioontology.org/ontology/MESH/D003123

http://purl.bioontology.org/ontology/MESH/D003057

http://purl.bioontology.org/ontology/MESH/D011038

http://purl.bioontology.org/ontology/MESH/D001478

http://purl.bioontology.org/ontology/MESH/D005097

http://purl.bioontology.org/ontology/MESH/D016511

http://purl.bioontology.org/ontology/MESH/D009377

http://purl.bioontology.org/ontology/MESH/D011125

http://purl.bioontology.org/ontology/MESH/D010580

http://purl.bioontology.org/ontology/MESH/D005199
Machine permutation

92
Mapped from

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

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

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

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

19910621
MMR

20180629
MN

C18.452.284.520

C04.700.600

C16.320.700.600
notation

D016864
prefLabel

Li-Fraumeni Syndrome
TERMUI

T050495
TH

NLM (1992)

ORD (2010)

GHR (2014)
tui

T047
subClassOf

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

http://purl.bioontology.org/ontology/MESH/D049914
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_3012 Human Disease Ontology 123 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3476 National Cancer Institute Thesaurus LOOM