Preferred Name

Li-Fraumeni syndrome

Synonyms

sarcoma, breast, leukaemia and adrenal gland syndrome

LFS

SBLA syndrome

Definitions

Xref MGI. OMIM mapping confirmed by DO. [SN]. A syndrome characterized by autosomal dominant inheritance of increased risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata.

ID

http://purl.obolibrary.org/obo/DOID_3012

comment

Xref MGI. OMIM mapping confirmed by DO. [SN].

database_cross_reference

OMIM:PS151623

SNOMEDCT_US_2023_03_01:428850001

UMLS_CUI:C0085390

MESH:D016864

GARD:6902

NCI:C3476

ORDO:524

definition

A syndrome characterized by autosomal dominant inheritance of increased risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata.

has exact synonym

sarcoma, breast, leukaemia and adrenal gland syndrome

Li-Fraumeni Familiar cancer Susceptibility syndrome

SBLA syndrome

LFS

has material basis in

http://purl.obolibrary.org/obo/GENO_0000147

has_obo_namespace

disease_ontology

id

DOID:3012

in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

Li-Fraumeni syndrome

notation

DOID:3012

prefLabel

Li-Fraumeni syndrome

subClassOf

http://purl.obolibrary.org/obo/DOID_0050736

http://purl.obolibrary.org/obo/DOID_225

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_3012 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_3012 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_3012 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_3012 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_3012 FNS-H SAME_URI
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 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://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 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