CFTR-related disorder
Findings
No curated finding names CFTR-related disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:7770004), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
- Narrower terms (1)
Other names
1 name
Resolves to: CFTR-related disorder
- Also called
- CFTR-RD