- Skin rash (HP:0000988): A red eruption of the skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:829)
- Pruritus (HP:0000989): Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:829)
- Arthritis (HP:0001369): Inflammation of a joint. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:829)
- Joint swelling (HP:0001386). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:829)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:829)
- Increased total leukocyte count (HP:0001974): An abnormal increase in the number of leukocytes in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:829)
- Arthralgia (HP:0002829): Joint pain. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:829)
- Increased circulating ferritin concentration (HP:0003281): Increased concentration of ferritin in the blood circulation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:829)
- Elevated erythrocyte sedimentation rate (HP:0003565): An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:829)
- Arthralgia/arthritis (HP:0005059). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:829)
- Erythema (HP:0010783): Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:829)
- Elevated circulating C-reactive protein concentration (HP:0011227): The concentration of C-reactive protein in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:829)
- Increased total neutrophil count (HP:0011897): Abnormal increase of absolute number of neutrophils in the blood, per microliter, compared to a reference range for a given sex and age-group. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:829)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:829)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:829)
- Weight loss (HP:0001824): Reduction of total body weight. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:829)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:829)
- Abdominal pain (HP:0002027): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:829)
- Pleuritis (HP:0002102): Inflammation of the pleura. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:829)
- Pleural effusion (HP:0002202): The presence of an excessive amount of fluid in the pleural cavity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:829)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:829)
- Lymphadenopathy (HP:0002716): Enlargement (swelling) of a lymph node. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:829)
- Elevated circulating hepatic transaminase concentration (HP:0002910): Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:829)
- Elevated circulating alkaline phosphatase concentration (HP:0003155): Abnormally increased serum levels of alkaline phosphatase activity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:829)
- Myalgia (HP:0003326): Pain in muscle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:829)
- Transient pulmonary infiltrates (HP:0005828). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:829)
- Generalized lymphadenopathy (HP:0008940): A generalized form of lymphadenopathy. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:829)
- Asthenia (HP:0025406): A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:829)
- Pharyngitis (HP:0025439): Inflammation (due to infection or irritation) of the pharynx. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:829)
- Pharyngalgia (HP:0033050): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the throat. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:829)
- 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: Frequent (HP:0040282). (ORPHA:829)
- Koebner Phenomenon (HP:6000933): The appearance of new skin lesions on previously unaffected skin secondary to trauma. This phenomenon is also termed the isomorphic (from Greek, equal shape) response, given the fact that the new lesions that appear are clinically and histologically identical to the patient's underlying cutaneous disease. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:829)
- Proteinuria (HP:0000093): Increased levels of protein in the urine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:829)
- Encephalopathy (HP:0001298): Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:829)
- Pericarditis (HP:0001701): Inflammation of the sac-like covering around the heart (pericardium). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:829)
- Pancreatitis (HP:0001733): The presence of inflammation in the pancreas. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:829)
- Nausea (HP:0002018): A sensation of unease in the stomach together with an urge to vomit. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:829)
- Anorexia (HP:0002039): Lack of desire to eat (loss of appetite). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:829)
- Respiratory distress (HP:0002098): Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:829)
- Lymphadenitis (HP:0002840): Inflammation of a lymph node. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:829)
- 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:829)
- Abnormal circulating lipid concentration (HP:0003119): Any deviation from the normal concentration of a lipid in the blood circulation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:829)
- 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:829)
- Bone marrow hypocellularity (HP:0005528): A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:829)
- Interstitial pneumonitis (HP:0006515). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:829)
- Hepatitis (HP:0012115): Inflammation of the liver. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:829)
- Hemophagocytosis (HP:0012156): Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:829)
- Elevated circulating aldolase concentration (HP:0012544): Concentration of fructose 1,6-bisphosphate aldolase in the blood circulation above the upper limit of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:829)
- Myocarditis (HP:0012819): Inflammation of the myocardium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:829)
- Cartilage destruction (HP:0100773). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:829)
- Conjunctivitis (HP:0000509): Inflammation of the conjunctiva. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:829)
- Uveitis (HP:0000554): Inflammation of one or all portions of the uveal tract. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:829)
- Disseminated intravascular coagulation (HP:0005521): Disseminated intravascular coagulation is characterized by the widespread activation of coagulation, which results in the intravascular formation of fibrin and ultimately thrombotic occlusion of small and midsize vessels. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:829)
- Amyloid deposition (HP:0011034): Pathologic deposits of specific fibrillar protein aggregates with distinct microscopic properties, particularly affinity for the dye Congo red with typical birefringence. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:829)
- Non-infectious meningitis (HP:0033430): Inflammation of the layers of tissue that cover the brain and spinal cord (meninges) and of the fluid-filled space between the meninges (subarachnoid space) when it is caused by disorders that are not infections or by drugs or vaccines. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:829)
- Episcleritis (HP:0100534): Inflammation of the episclera, a thin layer of tissue covering the white part (sclera) of the eye. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:829)
These phenotypes are associated with the disease Adult-onset Still disease (ORPHA:829).
The following phenotypes are NOT associated with this disease:
- Lymphoma (HP:0002665): A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells. Evidence: TAS. (ORPHA:829)
- Severe Epstein Barr virus infection (HP:0031693): An unusually severe Epstein Barr virus (EBV) infection. Evidence: TAS. (ORPHA:829)
- Sepsis (HP:0100806): Sepsis is defined as life-threatening organ dysfunction caused by a dysregulated host response to infection. Evidence: TAS. (ORPHA:829)