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immunodeficiency due to MASP-2 deficiency
Disease Summary
Associated Targets (1)
Tchem
1
Mondo Description Immunodeficiency due to MASP-2 deficiency is a rare, genetic immunodeficiency due to a complement cascade protein anomaly characterized by low serum levels of MASP-2 and a variable susceptibility to bacterial infections (e.g. pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (e.g. inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic.
Uniprot Description A disorder that results in autoimmune manifestations, recurrent severe infections, and chronic inflammatory disease.
Mondo Term and Equivalent IDs
MONDO:0013423: immunodeficiency due to MASP-2 deficiency
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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.
MESH:C565360
OMIM:613791
Orphanet:331187
UMLS:C3151085
MONDO:0013423
High level summary of knowledge for a disease, including descriptions and datasource references.