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bronchiectasis with or without elevated sweat chloride 2
Disease Summary
Associated Targets (1)
Tclin
1
Mondo Description Any bronchiectasis in which the cause of the disease is a mutation in the SCNN1A gene.
Uniprot Description A debilitating respiratory disease characterized by chronic, abnormal dilatation of the bronchi and other cystic fibrosis-like symptoms in the absence of known causes of bronchiectasis (cystic fibrosis, autoimmune diseases, ciliary dyskinesia, common variable immunodeficiency, foreign body obstruction). Clinical features include sub-normal lung function, sinopulmonary infections, chronic productive cough, excessive sputum production, and elevated sweat chloride in some cases.
Mondo Term and Equivalent IDs
MONDO:0013087: bronchiectasis with or without elevated sweat chloride 2
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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.
DOID:0080527
MESH:C567813
OMIM:613021
UMLS:C2751666
MONDO:0013087
High level summary of knowledge for a disease, including descriptions and datasource references.