Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

SYSTEMIC LUPUS ERYTHEMATOSUS
Synonyms

SLE

EXCESS LMW-DNA

EXCESS LYMPHOCYTE LOW MOLECULAR WEIGHT DNA
ID

http://purl.bioontology.org/ontology/OMIM/152700
altLabel

SLE

EXCESS LMW-DNA

EXCESS LYMPHOCYTE LOW MOLECULAR WEIGHT DNA
cui

C1835309

C0024141
Gene Locus

3p21.3-p21.2
Gene Symbol

AGS1

RVCLS

CRV

HERNS

TREX1
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU017379

http://purl.bioontology.org/ontology/OMIM/MTHU041342

http://purl.bioontology.org/ontology/OMIM/MTHU006276

http://purl.bioontology.org/ontology/OMIM/MTHU036910

http://purl.bioontology.org/ontology/OMIM/MTHU000212

http://purl.bioontology.org/ontology/OMIM/MTHU017380

http://purl.bioontology.org/ontology/OMIM/MTHU000146

http://purl.bioontology.org/ontology/OMIM/MTHU002910

http://purl.bioontology.org/ontology/OMIM/MTHU016290

http://purl.bioontology.org/ontology/OMIM/MTHU017381

http://purl.bioontology.org/ontology/OMIM/MTHU011706

http://purl.bioontology.org/ontology/OMIM/MTHU001688

http://purl.bioontology.org/ontology/OMIM/MTHU041343

http://purl.bioontology.org/ontology/OMIM/MTHU036911

http://purl.bioontology.org/ontology/OMIM/MTHU011705

http://purl.bioontology.org/ontology/OMIM/MTHU000242
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

152700
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

SYSTEMIC LUPUS ERYTHEMATOSUS
Scope Statement

Complement deficiency (e.g. C2 and C4 null alleles) are susceptible to developing SLE [MISCELLANEOUS]

Onset between ages 16-55 [MISCELLANEOUS]

Association between HLA class II alleles and presence of autoantibodies [MISCELLANEOUS]

Female to male ratio 8-13:1 [MISCELLANEOUS]

Susceptibility to SLE caused by mutation in the tumor necrosis factor ligand superfamily, member 6 gene (TNFSF6, 134638.0001) [MOLECULAR BASIS]

Susceptibility to SLE caused by mutation in the Fc fragment of IgG receptor 1a gene (FCGR2A, 604590.0001) [MOLECULAR BASIS]

Susceptibility to SLE caused by mutation in the Fc fragment of IgG receptor 2a gene (FCGR2A, 146790.0001) [MOLECULAR BASIS]
tui

T047

T033
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Mapping To Ontology Source
http://purl.bioontology.org/ontology/MEDDRA/10025133 MEDDRA CUI
http://purl.bioontology.org/ontology/ICD9CM/710.0 ICD9CM CUI
http://purl.bioontology.org/ontology/SNMI/D1-10100 SNMI CUI
http://purl.bioontology.org/ontology/SNOMEDCT/55464009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRFRE/10025142 MDRFRE CUI
http://purl.bioontology.org/ontology/MESH/D008180 MESH CUI
http://purl.bioontology.org/ontology/MDRFRE/10042820 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10025133 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10013446 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10025142 MDRGER CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000608139 PDQ CUI
http://purl.bioontology.org/ontology/RCD/N000. RCD CUI
http://purl.bioontology.org/ontology/ICPC2P/L99065 ICPC2P CUI
http://purl.bioontology.org/ontology/MDRGER/10040967 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10042820 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10024065 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10042947 MDRFRE CUI
http://purl.bioontology.org/ontology/phenX/171000 PHENX CUI
http://purl.bioontology.org/ontology/MDRFRE/10024067 MDRFRE CUI
http://purl.bioontology.org/ontology/WHO/0081 WHO-ART CUI
http://purl.bioontology.org/ontology/MDRFRE/10040967 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10024067 MDRGER CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001887 NDFRT CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0024141 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/MDRFRE/10042800 MDRFRE CUI
http://purl.bioontology.org/ontology/ICD10CM/M32 ICD10CM CUI
http://purl.bioontology.org/ontology/MDRFRE/10025139 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10042945 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10042945 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10024065 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10040967 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10042947 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10025139 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10025139 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10042947 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10042944 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/55464009 SCTSPA CUI
http://purl.bioontology.org/ontology/WHOFRE/0081 WHOFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10042800 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10024067 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10025133 MDRFRE CUI
http://purl.bioontology.org/ontology/LNC/LA15300-9 LOINC CUI
http://purl.bioontology.org/ontology/MSHFRE/D008180 MSHFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10042944 MEDDRA CUI
http://purl.bioontology.org/ontology/CST/LE%20SYND COSTART CUI
http://purl.bioontology.org/ontology/ICD10/M32.9 ICD10 CUI
http://purl.bioontology.org/ontology/MEDDRA/10024065 MEDDRA CUI
http://purl.bioontology.org/ontology/ICD10CM/M32.9 ICD10CM CUI
http://purl.bioontology.org/ontology/MEDDRA/10013446 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10025142 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10042944 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10042800 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10013446 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10042820 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10042945 MDRGER CUI
http://purl.bioontology.org/ontology/CSP/0729-7721 CRISP CUI
http://purl.bioontology.org/ontology/ICD10/M32 ICD10 CUI
http://purl.obolibrary.org/obo/DOID_9074 DOID LOOM
http://purl.obolibrary.org/obo/HP_0002725 OBA LOOM
http://purl.obolibrary.org/obo/MONDO_0007915 OBA LOOM
http://purl.obolibrary.org/obo/MONDO_0007915 MONDO LOOM
http://purl.obolibrary.org/obo/HP_0002725 CCONT LOOM
http://purl.obolibrary.org/obo/HP_0002725 EFO LOOM
http://purl.obolibrary.org/obo/HP_0002725 SCDO LOOM
http://purl.obolibrary.org/obo/HP_0002725 HP LOOM
http://purl.obolibrary.org/obo/HP_0002725 UPHENO LOOM
http://purl.bioontology.org/ontology/ICD9CM/710.0 ICD9CM LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3201 NCIT LOOM
http://purl.bioontology.org/ontology/SNMI/D1-10100 SNMI LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Systemic_Lupus_Erythematosus ESSO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Systemic_Lupus_Erythematosus MEPO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Systemic_Lupus_Erythematosus EPISEM LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/55464009 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/RCTV2/N000.00 RCTV2 LOOM
http://www.semanticweb.org/admin/ontologies/2022/7/MIO:02240 MIO LOOM
http://purl.jp/bio/4/id/200906089357222475 IOBC LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000608139 PDQ LOOM
http://purl.bioontology.org/ontology/RCD/N000. RCD LOOM
http://purl.bioontology.org/ontology/ICPC2P/L99065 ICPC2P LOOM
http://purl.obolibrary.org/obo/OMIM_152700 CCO LOOM
http://purl.bioontology.org/ontology/phenX/171000 PHENX LOOM
http://purl.obolibrary.org/obo/MONDO_0007915 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0007915 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0007915 BMONT LOOM
http://purl.obolibrary.org/obo/MONDO_0007915 DOVES LOOM
http://cbmi.med.harvard.edu/asdphenotype#Class_506 ASDPTO LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14496 DERMLEX LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0024141 MEDLINEPLUS LOOM
http://www.limics.org/hrdo/rdfns#pat_id_124 HRDO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10042945 MEDDRA LOOM
http://www.orpha.net/ORDO/Orphanet_536 ORDO LOOM
http://www.co-ode.org/ontologies/galen#SystemicLupusErythematosus GALEN LOOM
http://purl.obolibrary.org/obo/DOID_9074 VICO LOOM
http://purl.obolibrary.org/obo/DOID_9074 DTO LOOM
http://purl.obolibrary.org/obo/DOID_9074 DOID LOOM
http://purl.obolibrary.org/obo/DOID_9074 BAO LOOM
http://purl.obolibrary.org/obo/DOID_9074 EPIO LOOM
http://purl.obolibrary.org/obo/DOID_9074 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_9074 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_9074 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_9074 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_9074 OHMI LOOM
http://purl.obolibrary.org/obo/DOID_9074 FNS-H LOOM
rgo:03509 GAMUTS LOOM
urn:agi-folder:systemic_lupus_erythematosus BPT LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_9074 NATPRO LOOM
http://nanbyodata.jp/ontology/NANDO_2200416 NANDO LOOM
http://nanbyodata.jp/ontology/NANDO_1200272 NANDO LOOM
http://purl.obolibrary.org/obo/NCIT_C3201 BERO LOOM
http://www.semanticweb.org//Childbearing-ageWomenwithEpilepsyOntology#Systemic_lupus_erythematosus WWECA LOOM
http://identifiers.org/omim/152700 REXO LOOM
http://identifiers.org/omim/152700 GEXO LOOM
http://identifiers.org/omim/152700 RETO LOOM
http://localhost/plosthes.2017-1#5980 PLOSTHES LOOM
https://github.com/sap218/ocimido/blob/master/ontology/ocimido.owl#OCIMIDO_00245 OCIMIDO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00008599 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/DERMO_0001880 DERMO LOOM
http://purl.bioontology.org/ontology/CSP/0729-7721 CRISP LOOM
http://purl.bioontology.org/ontology/ICD10/M32 ICD10 LOOM