Preferred Name |
SYSTEMIC LUPUS ERYTHEMATOSUS |
|
Synonyms |
SLE |
|
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 |
|
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 |