Phenotypes associated with the disease bronchiectasis with or without elevated sweat chloride 1 (OMIM:211400, an entry in Online Mendelian Inheritance in Man):
- Bronchiectasis (HP:0002110, a Human Phenotype Ontology term): Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. Evidence: TAS. (OMIM:211400)
- Abnormality of exocrine pancreas physiology (HP:0012092, a Human Phenotype Ontology term): A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes. Evidence: PCS. Frequency: 0/2. (PMID:16207733)
- Elevated sweat chloride (HP:0012236, a Human Phenotype Ontology term): An increased concentration of chloride in the sweat. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:211400)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:16207733)
- Chronic bronchitis (HP:0004469, a Human Phenotype Ontology term): Chronic inflammation of the bronchi. Evidence: TAS. (OMIM:211400)