- Thickened skin (HP:0001072): Laminar thickening of skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90291)
- Arthralgia (HP:0002829): Joint pain. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90291)
- Myalgia (HP:0003326): Pain in muscle. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90291)
- Antinuclear antibody positivity (HP:0003493): The presence of autoantibodies in the serum that react against nuclei or nuclear components. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90291)
- Abnormality of the gastrointestinal tract (HP:0011024): An abnormality of the gastrointestinal tract. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90291)
- Raynaud phenomenon (HP:0030880). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90291)
- Cutaneous sclerotic plaque (HP:0031359): A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter that is characterized by hardening (sclerosis) of the affected skin area (related to collagen thickening). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90291)
- Abnormality of the kidney (HP:0000077): An abnormality of the kidney. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90291)
- Narrow mouth (HP:0000160): Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90291)
- Telangiectasia (HP:0001009): Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90291)
- Nail bed telangiectasia (HP:0001232): Telangiectases in the area of the nails. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90291)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90291)
- Joint swelling (HP:0001386). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90291)
- Abnormal esophagus morphology (HP:0002031): A structural abnormality of the esophagus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90291)
- Pulmonary fibrosis (HP:0002206): Replacement of normal lung tissues by fibroblasts and collagen. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90291)
- Elevated circulating creatine kinase activity (HP:0003236): The activity of creatine kinase in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90291)
- Spotty hypopigmentation (HP:0005590). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90291)
- Acral ulceration (HP:0006121): A type of digital ulcer that manifests as an open sore on the surface of the skin at the tip of a finger or toe. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90291)
- Abnormal phalangeal joint morphology of the hand (HP:0006261). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90291)
- Abnormal pulmonary interstitial morphology (HP:0006530): Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90291)
- Irregular hyperpigmentation (HP:0007400). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90291)
- Sclerodactyly (HP:0011838): Localized thickening and tightness of the skin of the fingers or toes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90291)
- Pain (HP:0012531): An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90291)
- Finger swelling (HP:0025131): Enlargement of the soft tissues of one or more fingers. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90291)
- Calcinosis cutis (HP:0025520): Deposition of calcium in the skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90291)
- Anti-topoisomerase I antibody positivity (HP:0030859): The presence of autoantibodies (immunoglobulins) in the serum that react against topoisomerase I. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90291)
- Anti-centromere antibody positivity (HP:0030873): The presence of autoantibodies (immunoglobulins) in the serum that react against the centromeres or centromere components. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90291)
- Digital pitting scar (HP:0031293): Pinhole-sized concave depressions with hyperkeratosis in the skin of a finger or toe. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90291)
- Digital ulcer (HP:0031917): An open sore on the surface of the skin of a finger or toe. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90291)
- Anti-RNA-polymerase-III-autoantibody positivity (HP:0033038): The presence of autoantibodies in the serum that react to RNA-polymerase III. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90291)
- Anti-carbonic anhydrase II antibody positivity (HP:0033394): The presence of autoantibodies (immunoglobulins) in the serum that react against carbonic anhydrase II. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90291)
- Anti-PM-Scl antibody positivity (HP:0033560): Anti-PM-Scl antibodies target components of RNA-processing exosome complex in the nucleolus. There are ten proteins in this complex and antibodies to eight of them are found at varying frequencies; PM/Scl-100, PM/Scl-75, hRrp4, hRrp42, hRrp46, hCs14, hRrp41, and hRrp40. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90291)
- Anti-centromere protein A antibody positivity (HP:0034078): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CENP-A. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90291)
- Anti-centromere protein B antibody positivity (HP:0034079): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CENP-B. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90291)
- Anti-U3 RNP antibody positivity (HP:0034080): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against U3 RNP. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90291)
- Anti-Th/To antibody positivity (HP:0034081): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Th/To. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90291)
- Anti-bicaudal D2 antibody positivity (HP:0034082): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against bicaudal D2. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90291)
- Anti-nucleolus-organizing region antibody positivity (HP:0034083): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Nor90. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90291)
- Anti-PM-Scl100 antibody positivity (HP:0034085): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against PM-Scl100. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90291)
- Anti-PM-Scl75 antibody positivity (HP:0034086): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against PM-Scl75. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90291)
- Anti-U11/U12 RNP antibody positivity (HP:0034087): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against U11/U12 RNP. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90291)
- Anti-Ku antibody positivity (HP:0034088): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ku. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90291)
- Anti-B23 antibody positivity (HP:0034089): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against B23. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90291)
- Anti-RuvBL1/2 antibody positivity (HP:0034090): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against RuvBL1/2. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90291)
- Anti-platelet derived growth factor receptor (HP:0034091): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against platelet derived growth factor receptor. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90291)
- Anti-Ro52/TRIM21 antibody positivity (HP:0034093): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ro52/TRIM21. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90291)
- Anti-angiotensin receptor type-1 antibody positivity (HP:0034094): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against angiotensin receptor type-1. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90291)
- Anti-endothelin-1 type A receptor antibody positivity (HP:0034095): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against endothelin-1 type A receptor. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90291)
- Anti-angiotensin-converting enzyme 2 antibody positivity (HP:0034117): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against angiotensin-converting enzyme 2. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90291)
- Anti-platelet antigen antibody positivity (HP:4000170): The presence of autoantibodies (immunoglobulins) in the serum that react against antigens present on the surface of thrombocytes such as the glycoproteins GPIIb/IIIa, GPIb/IX, and GPIa/IIa. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90291)
- Anti-voltage-gated potassium channel antibody positivity (HP:4000171): The presence of autoantibodies (immunoglobulins) in the serum that react against a voltage-gated potassium channel. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90291)
- 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:90291)
- Proteinuria (HP:0000093): Increased levels of protein in the urine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90291)
- Glomerulonephritis (HP:0000099): Inflammation of the renal glomeruli. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90291)
- Hypohidrosis (HP:0000966): Abnormally diminished capacity to sweat. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90291)
- 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: Occasional (HP:0040283). (ORPHA:90291)
- Syncope (HP:0001279): A transient loss of consciousness (i.e., characterized by a rapid onset, a short duration, and a spontaneous and complete recovery) due to cerebral hypoperfusion. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90291)
- Arthritis (HP:0001369): Inflammation of a joint. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90291)
- Flexion contracture (HP:0001371): A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90291)
- Recurrent skin infections (HP:0001581): Infections of the skin that happen multiple times. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90291)
- Alopecia (HP:0001596): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90291)
- Pericarditis (HP:0001701): Inflammation of the sac-like covering around the heart (pericardium). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90291)
- Right ventricular failure (HP:0001708): Reduced ability of the right ventricle to perform its function (to receive blood from the right atrium and to eject blood into the pulmonary artery), often leading to pitting peripheral edema, ascites, and hepatomegaly. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90291)
- Acute kidney injury (HP:0001919): Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90291)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90291)
- Gastroesophageal reflux (HP:0002020): A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90291)
- Pulmonary arterial hypertension (HP:0002092): Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90291)
- 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: Occasional (HP:0040283). (ORPHA:90291)
- Abnormal small intestine morphology (HP:0002244): A structural abnormality of the small intestine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90291)
- Abnormal large intestine morphology (HP:0002250): Any abnormality of the large intestine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90291)
- Abnormal stomach morphology (HP:0002577): An abnormality of the stomach. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90291)
- Gastroparesis (HP:0002578): Decreased strength of the muscle layer of stomach, which leads to a decreased ability to empty the contents of the stomach despite the absence of obstruction. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90291)
- Intestinal bleeding (HP:0002584): Bleeding from the intestines. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90291)
- Gastrointestinal telangiectasia (HP:0002604): Telangiectasia affecting the gastrointestinal tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90291)
- Bowel incontinence (HP:0002607): Involuntary fecal soiling in adults and children who have usually already been toilet trained. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90291)
- 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:90291)
- Osteomyelitis (HP:0002754): Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90291)
- Osteolytic defects of the phalanges of the hand (HP:0009771): Dissolution or degeneration of bone tissue of the phalanges of the hand. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90291)
- Abnormality of facial soft tissue (HP:0011799). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90291)
- Constrictive median neuropathy (HP:0012185): Injury to the median nerve caused by its entrapment at the wrist as it traverses through the carpal tunnel. Clinically, constrictive median neuropathy is characterized by pain, paresthesia, and weakness in the median nerve distribution of the hand. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90291)
- Albuminuria (HP:0012592): Increased concentration of albumin in the urine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90291)
- Chronic kidney disease (HP:0012622): Functional anomaly of the kidney persisting for at least three months. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90291)
- Myocarditis (HP:0012819): Inflammation of the myocardium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90291)
- Interstitial cardiac fibrosis (HP:0031329): A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in interstitial spaces. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90291)
- Barrett esophagus (HP:0100580): An abnormal change (metaplasia) in the cells of the inferior portion of the esophagus. The normal squamous epithelium lining of the esophagus is replaced by metaplastic columnar epithelium. Columnar epithelium refers to a cell type that is typically found in more distal parts of the gastrointestinal system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90291)
- Gangrene (HP:0100758): A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:90291)
These phenotypes are associated with the disease Systemic sclerosis (ORPHA:90291).