cystic fibrosis
Autosomal recessive disorder caused by pathogenic variants in the CFTR gene (cystic fibrosis transmembrane conductance regulator), which encodes a chloride and bicarbonate channel expressed in epithelial cells, and follow the diagnosis criteria. Diagnosis requires evidence of CFTR dysfunction, defined as a sweat chloride concentration of 60 mmol/L or greater, or identification of two CF-causing CFTR pathogenic variants, or an abnormal nasal potential difference measurement. CF is a progressive, multi-organ disease characterized by chronic obstructive lung disease with recurrent infections, exocrine pancreatic insufficiency, intestinal obstruction (including meconium ileus in neonates), male infertility due to obstructive azoospermia, hepatobiliary complications, and elevated sweat chloride concentrations.
MONDO:0002356
pancreas disorder
excluded_subClassOf
MONDO:0015509
obsolete hereditary biliary tract disease (obsolete MONDO:0015509)
excluded_subClassOf
MONDO:0018396
obsolete rare male fertility disorder with obstructive azoospermia (obsolete MONDO:0018396)
excluded_subClassOf
MONDO:0018409
obsolete rare genetic disorder with obstructive azoospermia (obsolete MONDO:0018409)
excluded_subClassOf
MONDO:0005087
respiratory system disorder
is_a
MONDO:0006025
autosomal recessive disease
is_a
CF
exact
cystic fibrosis
exact
cystic fibrosis lung disease, modifier of
exact
fibrocystic disease of the pancreas
related
mucoviscidosis
exact
pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis
exact