| umls-concept:C0010674 | skos:definition | MSH: An autosomal recessive genetic disease of the EXOCRINE GLANDS. It is caused by mutations in the gene encoding the CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR expressed in several organs including the LUNG, the PANCREAS, the BILIARY SYSTEM, and the SWEAT GLANDS. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in AIRWAY OBSTRUCTION; chronic RESPIRATORY INFECTIONS; PANCREATIC INSUFFICIENCY; maldigestion; salt depletion; and HEAT PROSTRATION.,CSP: most common potentially lethal autosomal recessive disease affecting Caucasians; characterized by chronic pulmonary, intestinal, liver, pancreatic, and exocrine gland dysfunction; caused by mutations of the CFTR chloride channel.,NCI: A common hereditary disease in which exocrine (secretory) glands produce abnormally thick mucus. This mucus can cause problems in digestion, breathing, and body cooling.,MEDLINEPLUS: <p>Cystic fibrosis (CF) is an inherited disease of the mucus and sweat glands. | lld:umls |
