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cystic fibrosis

Disease Summary
Associated Targets (1842)
Tbio

1291

Tchem

267

Tdark

190

Tclin

94


GARD Rare
Mondo Description Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity.
Uniprot Description A common generalized disorder of the exocrine glands which impairs clearance of secretions in a variety of organs. It is characterized by the triad of chronic bronchopulmonary disease (with recurrent respiratory infections), pancreatic insufficiency (which leads to malabsorption and growth retardation) and elevated sweat electrolytes. It is the most common genetic disease in Caucasians, with a prevalence of about 1 in 2'000 live births. Inheritance is autosomal recessive.
Disease Ontology Description An autosomal recessive disease that is characterized by the buildup of thick, sticky mucus that can damage many organs.
Mondo Term and Equivalent IDs
MONDO:0009061:  cystic fibrosis
COHD:441267: 
GARD:0006233: 
ICD10:E84: 
MESH:D003550: 
NCIT:C2975: 
Orphanet:586: 
SCTID:190905008: 
UMLS:C0010674: