CFTR-related disorder
A disease associated with CFTR (cystic fibrosis transmembrane conductance regulator) dysfunction that does not fulfill the diagnostic criteria for cystic fibrosis (CF). CFTR-related disorders are characterized by clinical evidence of CFTR dysfunction limited to a single organ system, a sweat chloride concentration below the CF diagnostic threshold (typically less than 60 mmol/L), and CFTR genotypes that often include at least one variant not classified as CF-causing. Recognized CFTR-related disorders include congenital bilateral absence of the vas deferens (CBAVD), acute recurrent or chronic pancreatitis, and disseminated bronchiectasis.
MONDO:0003847
hereditary disease
is_a
CFTR-RD
exact
CFTR-related disease
related