- Asthma (HP:0002099): Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing. Evidence: IEA. (OMIM:600807)
- Non-Mendelian inheritance (HP:0001426): A mode of inheritance that depends on genetic determinants in more than one gene. Evidence: TAS. (OMIM:600807)
- Autosomal dominant inheritance (HP:0000006): 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: TAS. (OMIM:600807)
- Bronchoconstriction (HP:4000007): Tightening of smooth muscle surrounding the bronchi and bronchioles with consequent wheezing and shortness of breath. Evidence: TAS. (OMIM:600807)
- Airway hyperresponsiveness (HP:0032933): An increased sensitivity of the airways to an inhaled constrictor agonist, a steeper slope of the dose-response curve, and a greater maximal response to the agonist. Evidence: TAS. (OMIM:600807)
These phenotypes are associated with the disease inherited susceptibility to asthma (OMIM:600807).