Phenotypes associated with the disease Sarcoidosis (ORPHA:797):
- Hyperthyroidism (HP:0000836): An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:797)
- Hemolytic anemia (HP:0001878): A type of anemia caused by premature destruction of red blood cells (hemolysis). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:797)
- Increased total eosinophil count (HP:0001880): Increased count of eosinophils in the blood. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:797)
- Hypothermia (HP:0002045): Reduced body temperature due to failed thermoregulation. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:797)
- Hemoptysis (HP:0002105): Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:797)
- 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: Occasional (HP:0040283). (ORPHA:797)
- Blindness (HP:0000618): Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:797)
- Dacryocystitis (HP:0000620): Inflammation of the nasolacrimal sac. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:797)
- Kidney stone (HP:0000787): Kidney stones (calculi) are mineral concretions in the renal calyces and pelvis that are found free or attached to the renal papillae. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:797)
- Diabetes insipidus (HP:0000873): A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:797)
- Hyperpigmentation of the skin (HP:0000953): A darkening of the skin related to an increase in melanin production and deposition. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:797)
- Hypopigmentation of the skin (HP:0001010): A reduction of skin color related to a decrease in melanin production and deposition. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:797)
- Keratoconjunctivitis sicca (HP:0001097): Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:797)
- Arthritis (HP:0001369): Inflammation of a joint. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:797)
- Hepatic failure (HP:0001399). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:797)
- Portal hypertension (HP:0001409): Increased pressure in the portal vein. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:797)
- Subcutaneous nodule (HP:0001482): Slightly elevated lesions on or in the skin with a diameter of over 5 mm. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:797)
- Alopecia (HP:0001596): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:797)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:797)
- Tubulointerstitial nephritis (HP:0001970): A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:797)
- Emphysema (HP:0002097). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:797)
- Pneumothorax (HP:0002107): Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:797)
- 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:797)
- Hypercalciuria (HP:0002150). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:797)
- Pulmonary fibrosis (HP:0002206): Replacement of normal lung tissues by fibroblasts and collagen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:797)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:797)
- Lymphadenopathy (HP:0002716): Enlargement (swelling) of a lymph node. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:797)
- Abnormal lymph node morphology (HP:0002733): A structural lymph node abnormality. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:797)
- Upper airway obstruction (HP:0002781): Increased resistance to the passage of air in the upper airway. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:797)
- Abnormal cerebrospinal fluid morphology (HP:0002921): An abnormality of the cerebrospinal fluid (CSF). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:797)
- Increased CSF protein concentration (HP:0002922): Increased concentration of protein in the cerebrospinal fluid. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:797)
- Hypercalcemia (HP:0003072): The concentration of calcium in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:797)
- Proximal muscle weakness (HP:0003701): A lack of strength of the proximal muscles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:797)
- Ventricular tachycardia (HP:0004756): A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:797)
- Enlarged lacrimal glands (HP:0007734): Abnormally big lacrimal glands. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:797)
- Peripheral neuropathy (HP:0009830): Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:797)
- Chylothorax (HP:0010310): Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:797)
- Facial palsy (HP:0010628): Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:797)
- Abnormality of the gastrointestinal tract (HP:0011024): An abnormality of the gastrointestinal tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:797)
- Arrhythmia (HP:0011675): Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:797)
- Enlargement of parotid gland (HP:0011801): Increased size of the parotid gland. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:797)
- Parotitis (HP:0011850): Inflammation of the parotid gland. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:797)
- Bone cyst (HP:0012062): A fluid filled cavity that develops with a bone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:797)
- Abnormal reproductive system morphology (HP:0012243): A structural or developmental anomaly of any of the tissues involved in the genital system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:797)
- Heart block (HP:0012722): Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:797)
- Abnormal liver parenchyma morphology (HP:0030146): A structural anomaly of the liver located predominantly in the hepatocytes as opposed to stromal cells. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:797)
- Abnormal cardiac ventricular function (HP:0030872): An abnormality of the cardiac ventricular function. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:797)
- Livedo reticularis (HP:0033505): Livedo reticularis is characterized by the presence of a bluish purple, mottled or netlike pattern in unbroken circles on the skin. Exposure to cold environments usually intensifies the vascular pattern. Presumably, the condition results from slow or stagnant blood flow, vessel-wall pathology, and decreased oxygen tension. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:797)
- Maculopapular exanthema (HP:0040186): A skin rash that is characterized by diffuse cutaneous erythema with areas of skin elevation. It may evolve to vesicles or papules as part of a more severe clinical entity. Different degrees of angioedema with involvement of subcutaneous tissue may also appear. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:797)
- Scarring (HP:0100699): A scar refers to a lesion in which wound, burn, or sore has not healed completely and fibrous connective tissue has developed. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:797)
- Skin plaque (HP:0200035): A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:797)
- Hypothyroidism (HP:0000821): Deficiency of thyroid hormone. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:797)
- Abnormality of the adrenal glands (HP:0000834): Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:797)
- Uveitis (HP:0000554): Inflammation of one or all portions of the uveal tract. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:797)
- Joint swelling (HP:0001386). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:797)
- Decreased liver function (HP:0001410): Reduced ability of the liver to perform its functions. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:797)
- Weight loss (HP:0001824): Reduction of total body weight. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:797)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:797)
- Decreased total leukocyte count (HP:0001882): An abnormal decreased number of leukocytes in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:797)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:797)
- Abnormal lung morphology (HP:0002088): Any structural anomaly of the lung. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:797)
- 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:797)
- Abnormal pleura morphology (HP:0002103): An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:797)
- Pleural effusion (HP:0002202): The presence of an excessive amount of fluid in the pleural cavity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:797)
- Abnormality of the musculature (HP:0003011): Abnormality originating in one or more muscles, i.e., of the set of muscles of body. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:797)
- Abnormal skin morphology (HP:0011121): Any morphological abnormality of the skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:797)
- Erythema nodosum (HP:0012219): An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:797)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:797)
- 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:797)
- Chest pain (HP:0100749): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:797)
- Increased total T cell count (HP:0100828): Abnormal increase in the absolute number of T cells, commonly characterized as CD3+ lymphocytes, per microliter of blood, compared to a reference range for a given sex and age-group. These may include both TCR alpha/beta and gamma/delta T cells. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:797)
- Skin nodule (HP:0200036): Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:797)
- 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:797)
- Nephrocalcinosis (HP:0000121): Nephrocalcinosis is the deposition of calcium salts in renal parenchyma. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:797)
- Abnormal nasal mucosa morphology (HP:0000433). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:797)
- Glaucoma (HP:0000501): Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:797)
- Abnormal conjunctiva morphology (HP:0000502): An abnormality of the conjunctiva. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:797)