Human Health Exposure Analysis Resource

Last uploaded: February 2, 2024
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

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

textual 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.

subClassOf

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

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

Delete Subject Author Type Created
No notes to display
Create mapping

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 NIFSTD 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 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://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