Phenotypes associated with the disease primary ciliary dyskinesia 35 (OMIM:617092):
- Chronic rhinitis (HP:0002257): Chronic inflammation of the nasal mucosa. Evidence: PCS. Frequency: 3/3. (PMID:27486780)
- Situs inversus totalis (HP:0001696): A left-right reversal (or mirror reflection) of the anatomical location of the major thoracic and abdominal organs. Evidence: PCS. Frequency: 1/3. (PMID:27486780)
- Bronchiectasis (HP:0002110): Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. Evidence: PCS. Frequency: 3/3. (PMID:27486780)
- Decreased nasal nitric oxide (HP:0033036): Reduced level of nasal nitric oxide (nNO). Current American Thoracic Society/European Respiratory Society (ATS/ERS) guidelines for nNO measurements recommend air aspiration via a nasal probe while the subject exhales through the mouth against resistance in order to maintain velum closure. Evidence: PCS. Frequency: 3/3. (PMID:27486780)
- Nasal polyposis (HP:0100582): Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis. Evidence: PCS. Frequency: 3/3. (PMID:27486780)
- Productive cough (HP:0031245): A cough that produces phlegm or mucus. Evidence: PCS. Frequency: 3/3. (PMID:27486780)
- Abdominal situs ambiguus (HP:0031565): An abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements. Evidence: PCS. Frequency: 1/3. (PMID:27486780)
- Chronic sinusitis (HP:0011109): A chronic form of sinusitis. Evidence: PCS. Frequency: 3/3. (PMID:27486780)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:27486780)
- Recurrent pneumonia (HP:0006532): An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia. Evidence: PCS. Frequency: 3/3. (PMID:27486780)
- Chronic otitis media (HP:0000389): Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear. Evidence: PCS. Frequency: 3/3. (PMID:27486780)
- Neonatal respiratory distress (HP:0002643): Respiratory difficulty as newborn. Evidence: PCS. Frequency: 1/3. (PMID:27486780)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 3/3. (PMID:27486780)