PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

Li-Fraumeni Syndrome

Synonyms
Definitions

An autosomal dominant disease characterized by increases risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata.

ID

http://www.phoc.org.cn/pmo/class/PMO_00038518

Database_Cross_Reference

MTH:NOCODE

MEDCIN:312783

CSP:4006-0058

NCI:C3476

PDQ:CDR0000042844

CHV:0000015578

NCI_NCI-GLOSS:CDR0000046322

DO:DOID:3012

NDFRT:N0000003489

MDR:10066795

SNOMEDCT_US:428850001

MSH:D016864

Definition

An autosomal dominant disease characterized by increases risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata.

label

Li-Fraumeni Syndrome

MCID

MC00043278

PMOID

PMO:00038518

prefixIRI

pmo:PMO_00038518

prefLabel

Li-Fraumeni Syndrome

Synonym

Li Fraumeni Syndrome

Li Fraumeni syndrome (TP53)

Li-Fraumeni Familial Cancer Susceptibility Syndrome

Li Fraumeni syndrome

SBLA syndrome

Li-Fraumeni syndrome

Li-Fraumeni Familiar cancer Susceptibility syndrome

LFS

li fraumeni syndrome

Li-Fraumeni Syndrome [Disease/Finding]

Li-Fraumeni syndrome (diagnosis)

sarcoma, breast, leukaemia and adrenal gland syndrome

li-fraumeni syndrome

Li-Fraumeni syndrome (disorder)

Tree Number

T9.12.7.8

T9.8.4.36.8

T9.11.1.17.7

subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00038515

http://www.phoc.org.cn/pmo/class/PMO_00038144

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Delete Mapping To Ontology Source
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://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://purl.bioontology.org/ontology/MESH/D016864 MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0085390 OCHV 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