loading...| Preferred Name |
SYSTEMIC LUPUS ERYTHEMATOSUS |
| Synonyms |
EXCESS LYMPHOCYTE LOW MOLECULAR WEIGHT DNA |
| ID |
http://purl.bioontology.org/ontology/OMIM/152700 |
| altLabel |
EXCESS LYMPHOCYTE LOW MOLECULAR WEIGHT DNA SLE EXCESS LMW-DNA |
| cui |
C0024141 C1835309 |
| Gene Locus |
3p21.3-p21.2 |
| Gene Symbol |
RVCLS HERNS CRV AGS1 TREX1 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU041343 http://purl.bioontology.org/ontology/OMIM/MTHU001688 http://purl.bioontology.org/ontology/OMIM/MTHU000146 http://purl.bioontology.org/ontology/OMIM/MTHU017381 http://purl.bioontology.org/ontology/OMIM/MTHU011706 http://purl.bioontology.org/ontology/OMIM/MTHU016290 http://purl.bioontology.org/ontology/OMIM/MTHU036910 http://purl.bioontology.org/ontology/OMIM/MTHU017379 http://purl.bioontology.org/ontology/OMIM/MTHU000212 http://purl.bioontology.org/ontology/OMIM/MTHU017380 http://purl.bioontology.org/ontology/OMIM/MTHU041342 http://purl.bioontology.org/ontology/OMIM/MTHU006276 http://purl.bioontology.org/ontology/OMIM/MTHU000242 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 |
Susceptibility to SLE caused by mutation in the Fc fragment of IgG receptor 1a gene (FCGR2A, 604590.0001) [MOLECULAR BASIS] Onset between ages 16-55 [MISCELLANEOUS] Complement deficiency (e.g. C2 and C4 null alleles) are susceptible to developing SLE [MISCELLANEOUS] Susceptibility to SLE caused by mutation in the Fc fragment of IgG receptor 2a gene (FCGR2A, 146790.0001) [MOLECULAR BASIS] 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] Association between HLA class II alleles and presence of autoantibodies [MISCELLANEOUS] |
| tui |
T033 T047 |