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autosomal systemic lupus erythematosus type 16
Disease Summary
Associated Targets (5)
Tbio
3
Tclin
1
Tchem
1
Mondo Description An instance of systemic lupus erythematosus (disease) that is caused by mutations in DNASE1L3.
Uniprot Description A rare autosomal recessive form of systemic lupus erythematosus with childhood onset, characterized by high frequency of anti-neutrophil cytoplasmic antibodies and lupus nephritis. Systemic lupus erythematosus is a chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow.
Mondo Term and Equivalent IDs
MONDO:0013743: autosomal systemic lupus erythematosus type 16
Download Data for autosomal systemic lupus erythematosus type 16
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:614420
Orphanet:300345
UMLS:C3280742
MONDO:0013743
High level summary of knowledge for a disease, including descriptions and datasource references.