Phenotypes associated with the disease Primary ciliary dyskinesia (ORPHA:244):
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:244)
- Recurrent otitis media (HP:0000403): Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:244)
- Nasal congestion (HP:0001742): Reduced ability to pass air through the nasal cavity often leading to mouth breathing. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:244)
- Chronic rhinitis (HP:0002257): Chronic inflammation of the nasal mucosa. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:244)
- Neonatal respiratory distress (HP:0002643): Respiratory difficulty as newborn. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:244)
- Male infertility (HP:0003251). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:244)
- Recurrent sinopulmonary infections (HP:0005425): An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:244)
- Chronic sinusitis (HP:0011109): A chronic form of sinusitis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:244)
- Respiratory tract infection (HP:0011947): An infection of the upper or lower respiratory tract. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:244)
- Abnormal sperm motility (HP:0012206): An anomaly of the mobility of ejaculated sperm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:244)
- Productive cough (HP:0031245): A cough that produces phlegm or mucus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:244)
- Abnormal sputum (HP:0032016): Abnormal appearance of material expectorated (coughed up) from the respiratory system and that is composed of mucus but may contain other substances such as pus, blood, microorganisms, and fibrin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:244)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:244)
- Abnormality of the genitourinary system (HP:0000119): The presence of any abnormality of the genitourinary system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:244)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:244)
- Conductive hearing impairment (HP:0000405): An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:244)
- Delayed speech and language development (HP:0000750): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:244)
- Abnormality of the skeletal system (HP:0000924): An abnormality of the skeletal system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:244)
- Clubbing (HP:0001217): Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:244)
- Abnormal heart morphology (HP:0001627): Any structural anomaly of the heart. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:244)
- Situs inversus totalis (HP:0001696): A left-right reversal (or mirror reflection) of the anatomical location of the major thoracic and abdominal organs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:244)
- Morphological central nervous system abnormality (HP:0002011): A structural abnormality of the central nervous system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:244)
- Bronchiectasis (HP:0002110): Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:244)
- Airway obstruction (HP:0006536): Obstruction of conducting airways of the lung. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:244)
- Female infertility (HP:0008222). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:244)
- Recurrent mycobacterial infections (HP:0011274): Increased susceptibility to mycobacterial infections as manifested by recurrent episodes of mycobacterial infection. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:244)
- Pulmonary situs ambiguus (HP:0011617): An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which the morphology of both left and right lungs is the same. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:244)
- Peribronchovascular interstitial thickening (HP:0025177): Thickening of the peribronchovascular interstitium, a connective tissue sheath that surrounds the central bronchi and pulmonary arteries. The peribronchovascular interstitium extends from the level of the pulmonary hila into the peripheral lung. This feature may be ascertained on high-resolution computer tomography. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:244)
- Abnormal cardiovascular system morphology (HP:0030680): Any structural anomaly of the heart and blood vessels. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:244)
- Wheezing (HP:0030828): A high-pitched whistling sound associated with labored breathing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:244)
- Ectopic pregnancy (HP:0031456): A pregnancy in which the fertilized egg inserts in a location outside of the main cavity of the uterus (usually in the Fallopian tube). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:244)
- Lithoptysis (HP:0032543): Expectoration (coughing up) of a broncholith. Broncholithiasis is defined as the presence of calculi in the tracheobronchial tree. It is a rare disease but can be characterized by clinical and radiological findings of a calcified lymph node eroding bronchial wall and opening into the bronchial lumen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:244)
- Atelectasis (HP:0100750): Collapse of part of a lung associated with absence of inflation (air) of that part. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:244)
- Hydrocephalus (HP:0000238): Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:244)
- Rod-cone dystrophy (HP:0000510): An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:244)
- Transposition of the great arteries (HP:0001669): A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:244)
- Double outlet right ventricle (HP:0001719): Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:244)
- Asplenia (HP:0001746): Absence (aplasia) of the spleen. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:244)
- Polysplenia (HP:0001748): Polysplenia is a congenital disease manifested by multiple small accessory spleens. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:244)
- Ventriculomegaly (HP:0002119): An increase in size of the ventricular system of the brain. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:244)
- Intestinal malrotation (HP:0002566): An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:244)
- Respiratory failure (HP:0002878): A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:244)
- Persistent left superior vena cava (HP:0005301): A rare congenital vascular anomaly that results when the left superior cardinal vein caudal to the innominate vein fails to regress. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:244)
- Anomalous pulmonary venous return (HP:0010772): A developmental defect characterized by abnormal connection of one or more pulmonary veins to the superior or inferior vena cava, the right atrium, or the coronary sinus, resulting in a left-to-right shunt of oxygenated blood. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:244)
- Abnormal atrial arrangement (HP:0011535): Abnormality of the spatial relationship of the atria to other components of the heart. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:244)
- Atrial situs ambiguous (HP:0011539): Common atrium without defining morphologic features. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:244)
- Abnormal inferior vena cava morphology (HP:0025576): Any structural anomaly of the principal vein draining blood from the lower portion of the body. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:244)