SHMARQL

Li-Fraumeni syndrome

<http://www.wikidata.org/entity/Q187542>

autosomal dominant disease characterized by increased risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata
rdfs:label
"Li-Fraumeni syndrome"@en
skos:altLabel
"Li-Fraumeni"@en
"Li-Fraumeni Familial Cancer Susceptibility Syndrome"@en
"Li-Fraumeni Familiar cancer Susceptibility syndrome"@en
"Li-Fraumeni Syndrome"@en
"Li–Fraumeni syndrome"@en
"SBLA syndrome"@en
"sarcoma, breast, leukaemia and adrenal gland syndrome"@en
schema:description
"autosomal dominant disease characterized by increased risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata"@en
schema:dateModified "2026-10-24T00:25:20+00:00"^^xsd:dateTime
schema:version 2560165661
wikibase:identifiers 30
32
wikibase:sitelinks 19
wikibase:statements 83
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p:direct-normalized/P486 <http://id.nlm.nih.gov/mesh/D016864>
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0018875>
p:direct-normalized/P6366 <https://makg.org/entity/2777169287>
<https://makg.org/entity/2910855369>
p:direct-normalized/P665 <http://www.kegg.jp/entry/H00881>
p:direct-normalized/P672 <http://id.nlm.nih.gov/mesh/C04.700.600>
<http://id.nlm.nih.gov/mesh/C16.320.700.600>
<http://id.nlm.nih.gov/mesh/C18.452.284.520>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:3012>
wdt:P10283 "C2777169287"
wdt:P11143 "Li–Fraumeni syndrome"
wdt:P11430 "DI-01904"
wdt:P1193 0.0002214^^xsd:decimal
wdt:P13204 "hywr645y"
wdt:P1368 "000328213"
wdt:P138 Joseph F. Fraumeni, Jr.
Frederick Pei Li
wdt:P14914 "D00524"
wdt:P1550 "524"
wdt:P1617 "e1126c36-0f98-42fe-b7ce-dda1e4845c80"
wdt:P1692 "V84.01"
wdt:P1748 "C3476"
wdt:P1995 medical genetics
oncology
neurology
wdt:P2293 TP53
CHEK2
MDM2
CDKN2A
wdt:P279 syndrome
autosomal dominant disease
rare genetic endocrine disease
inherited nervous system cancer-predisposing syndrome
disease with Cushing syndrome as a major feature
genetic nervous system disorder
wdt:P2841 any age
wdt:P2888 <http://identifiers.org/doid/DOID:3012>
<http://purl.obolibrary.org/obo/DOID_3012>
<http://www.orpha.net/ORDO/Orphanet_524>
wdt:P2892 "C0085390"
wdt:P31 type of disease
rare disease
wdt:P3471 "8281"
wdt:P4229 "D48.9"
wdt:P4233 "li-fraumeni-syndrome"
wdt:P4317 "6902"
wdt:P486 "D016864"
wdt:P492 "151623"
"609265"
wdt:P5008 WikiProject Medicine
wdt:P5019 "li-fraumeni-syndrom"
wdt:P5270 "MONDO_0018875"
wdt:P557 "7450"
wdt:P6366 "2777169287"
"2910855369"
wdt:P646 "/m/03yxdr"
wdt:P6532 choriocarcinoma
non-Hodgkin lymphoma
medulloblastoma
ependymoma
choroid plexus carcinoma
astrocytoma
melanoma
acute lymphocytic leukemia
prostate cancer
central nervous system primitive neuroectodermal neoplasm
rectal neoplasm
colon cancer
laryngeal neoplasm
breast carcinoma
stomach cancer
rhabdomyosarcoma
lymphoma
Hodgkin lymphoma
pancreatic cancer
leukemia
kidney cancer
osteosarcoma
polyp of large intestine
gastrointestinal neoplasm
adrenocortical carcinoma
myelodysplastic syndrome
wdt:P665 "H00881"
wdt:P668 "NBK1311"
wdt:P672 "C04.700.600"
"C16.320.700.600"
"C18.452.284.520"
wdt:P673 "987356"
wdt:P699 "DOID:3012"
wdt:P7464 "li-fraumeni-syndrome"
wdt:P7807 "1968061860"
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