Phenotypes associated with the disease Relapsing polychondritis (ORPHA:728):
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:728)
- Arthritis (HP:0001369): Inflammation of a joint. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:728)
- Large vessel vasculitis (HP:0005310): A type of vasculitis (inflammation of blood vessel walls) affecting large arteries such as the aorta and branches of the aorta. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:728)
- Chondritis (HP:0100662): Inflammation of cartilage. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:728)
- Chondritis of pinna (HP:0200047): Inflammation of the cartilage of the external ear. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:728)
- Tinnitus (HP:0000360): Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:728)
- Ataxia (HP:0001251): Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:728)
- Limitation of joint mobility (HP:0001376): A reduction in the freedom of movement of one or more joints. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:728)
- Hoarse voice (HP:0001609): Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:728)
- Abnormal aortic valve morphology (HP:0001646): Any abnormality of the aortic valve. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:728)
- Pericarditis (HP:0001701): Inflammation of the sac-like covering around the heart (pericardium). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:728)
- Nausea and vomiting (HP:0002017): Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:728)
- Dyspnea (HP:0002094): Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:728)
- Vertigo (HP:0002321): An abnormal sensation of spinning while the body is actually stationary. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:728)
- Tracheobronchomalacia (HP:0002786): Weakness of the cartilage in the trachea and the bronchi, resulting in a floppy (non-rigid) airway. Affected persons may have difficulties to maintain patency of the airways. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:728)
- Cough (HP:0012735): A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:728)
- Wheezing (HP:0030828): A high-pitched whistling sound associated with labored breathing. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:728)
- Atelectasis (HP:0100750): Collapse of part of a lung associated with absence of inflation (air) of that part. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:728)
- Renal insufficiency (HP:0000083): A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:728)
- Proteinuria (HP:0000093): Increased levels of protein in the urine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:728)
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:728)
- Keratitis (HP:0000491): Inflammation of the cornea. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:728)
- Conjunctivitis (HP:0000509): Inflammation of the conjunctiva. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:728)
- Proptosis (HP:0000520): An eye that is protruding anterior to the plane of the face to a greater extent than is typical. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:728)
- Uveitis (HP:0000554): Inflammation of one or all portions of the uveal tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:728)
- Hematuria (HP:0000790): The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:728)
- Purpura (HP:0000979): Purpura (from Latin: purpura, meaning purple) is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:728)
- Anteriorly placed anus (HP:0001545): Anterior malposition of the anus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:728)
- Alopecia (HP:0001596): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:728)
- Laryngomalacia (HP:0001601): Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:728)
- Loss of voice (HP:0001686). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:728)
- Vascular dilatation (HP:0002617): An abnormal increase in the diameter of an artery or vein, either as a diffuse dilatation or as a localized, sac-like outpouching of the vessel wall (aneurysm). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:728)
- Abnormal pattern of respiration (HP:0002793): An anomaly of the rhythm or depth of breathing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:728)
- Arthralgia (HP:0002829): Joint pain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:728)
- Rheumatoid factor positive (HP:0002923): The presence in the serum of an autoantibody directed against the Fc portion of IgG. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:728)
- Antinuclear antibody positivity (HP:0003493): The presence of autoantibodies in the serum that react against nuclei or nuclear components. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:728)
- Abnormal endocardium morphology (HP:0004306): An abnormality of the endocardium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:728)
- Thrombophlebitis (HP:0004418): Inflammation of a vein associated with venous thrombosis (blood clot formation within the vein). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:728)
- Biparietal narrowing (HP:0004422): A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:728)
- Venous thrombosis (HP:0004936): Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:728)
- Cranial nerve paralysis (HP:0006824). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:728)
- Erythema (HP:0010783): Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:728)
- Recurrent aphthous stomatitis (HP:0011107): Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:728)
- Hepatitis (HP:0012115): Inflammation of the liver. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:728)
- Macule (HP:0012733): A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:728)
- Myocarditis (HP:0012819): Inflammation of the myocardium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:728)
- Abnormal mitral valve physiology (HP:0031481): Any functional anomaly of the mitral valve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:728)
- Nasal chondritis (HP:0033380): Inflammation of the cartilage of the nose. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:728)
- Scleritis (HP:0100532): Inflammation of the sclera. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:728)
- Inflammatory abnormality of the eye (HP:0100533): Inflammation of the eye, parts of the eye or the periorbital region. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:728)
- Episcleritis (HP:0100534): Inflammation of the episclera, a thin layer of tissue covering the white part (sclera) of the eye. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:728)
- Gangrene (HP:0100758): A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:728)
- Glomerulopathy (HP:0100820): Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:728)