- Weight loss (HP:0001824): Reduction of total body weight. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221)
- Respiratory insufficiency (HP:0002093). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221)
- Pulmonary fibrosis (HP:0002206): Replacement of normal lung tissues by fibroblasts and collagen. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221)
- Diffuse reticular or finely nodular infiltrations (HP:0002207). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221)
- Respiratory insufficiency due to muscle weakness (HP:0002747). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221)
- Arthralgia (HP:0002829): Joint pain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221)
- 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:221)
- 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:221)
- EMG: myopathic abnormalities (HP:0003458): The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221)
- 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:221)
- Abnormal hair quantity (HP:0011362): An abnormal amount of hair. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221)
- 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: Frequent (HP:0040282). (ORPHA:221)
- Increased circulating lactate dehydrogenase concentration (HP:0025435): An elevated level of the enzyme lactate dehydrogenase in the blood circulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221)
- Gottron's papules (HP:0025508): Violaceous papules overlying the dorsal and lateral aspects of the metacarpophalangeal and proximal interphalangeal joints. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221)
- Shawl sign (HP:0025535): Erythematous, poikilodermatous macules distributed in a shawl pattern over the shoulders, arms and upper back. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221)
- Anti-SUMO-activating enzyme subunit 1 antibody positivity (HP:0034140): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE 1. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221)
- Anti-SUMO-activating enzyme subunit 2 antibody positivity (HP:0034141): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE 2. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221)
- Heliotrope rash (HP:0040324): In a heliotrope rash, the color of the skin turns to violet, which is the color of the heliotrope flower. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221)
- Myositis (HP:0100614): A general term for inflammation of the muscles without respect to the underlying cause. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221)
- Papule (HP:0200034): A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221)
- Skin ulcer (HP:0200042): A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221)
- Cutaneous photosensitivity (HP:0000992): An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:221)
- Poikiloderma (HP:0001029): Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:221)
- Alopecia (HP:0001596): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:221)
- Dysphonia (HP:0001618): Difficulty in speaking due to a physical disorder of the mouth, tongue, throat, or vocal cords. Associated with a known physical or neurological cause. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:221)
- Myocardial infarction (HP:0001658): Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:221)
- Abnormal eyelid morphology (HP:0000492): An abnormality of the eyelids. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:221)
- Edema (HP:0000969): An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:221)
- Autoimmunity (HP:0002960): The occurrence of an immune reaction against the organism's own cells or tissues. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:221)
- Limb-girdle muscle weakness (HP:0003325): Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:221)
- Myalgia (HP:0003326): Pain in muscle. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:221)
- EMG abnormality (HP:0003457): Abnormal results of investigations using electromyography (EMG). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:221)
- Proximal muscle weakness (HP:0003701): A lack of strength of the proximal muscles. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:221)
- Inflammatory myopathy (HP:0009071): Chronic muscle inflammation accompanied by muscle weakness. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:221)
- 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:221)
- Periorbital edema (HP:0100539): Edema affecting the region situated around the orbit of the eye. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:221)
- Chondrocalcinosis (HP:0000934): Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) . Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221)
- Dry skin (HP:0000958): Skin characterized by the lack of natural or normal moisture. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221)
- Skin rash (HP:0000988): A red eruption of the skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221)
- 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: Frequent (HP:0040282). (ORPHA:221)
- Facial erythema (HP:0001041): Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221)
- Acrocyanosis (HP:0001063): Bluish discoloration of the skin of the hands or feet. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221)
- Arthritis (HP:0001369): Inflammation of a joint. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221)
- Abnormal nail morphology (HP:0001597): Abnormal structure or appearance of the nail. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:221)
- Pericarditis (HP:0001701): Inflammation of the sac-like covering around the heart (pericardium). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:221)
- Abnormal eosinophil morphology (HP:0001879): An abnormal count or structure of eosinophils. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:221)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:221)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:221)
- 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:221)
- Vasculitis (HP:0002633): Inflammation of blood vessel. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:221)
- Neoplasm (HP:0002664): An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:221)
- Lymphoma (HP:0002665): A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:221)
- Breast carcinoma (HP:0003002): The presence of a carcinoma of the breast. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:221)
- Aplasia/Hypoplasia of the skin (HP:0008065). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:221)
- Feeding difficulties in infancy (HP:0008872): Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:221)
- 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:221)
- Sinus tachycardia (HP:0011703): Heart rate of greater than 100 beats per minute. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:221)
- Myocarditis (HP:0012819): Inflammation of the myocardium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:221)
- V-sign (HP:0025536): Erythematous, poikilodermatous macules distributed in a V-shaped distribution over the anterior neck and chest. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:221)
- Lung adenocarcinoma (HP:0030078). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:221)
- Raynaud phenomenon (HP:0030880). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:221)
- Anti-MDA5 antibody positivity (HP:0033033): The presence of autoantibodies in the serum that react to Anti-MDA5 (Anti-melanoma differentiation-associated proteine 5). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:221)
- Anti-Mi2 antibody positivity (HP:0033554): The presence of autoantibodies in the blood circulation that react against the Mi-2 antigen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:221)
- Anti-transcription intermediary factor-1gamma antibody positivity (HP:0034105): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against transcription intermediary factor-1gamma. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:221)
- Anti-SUMO-activating enzyme antibody positivity (HP:0034139): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:221)
- Anti-nuclear matrix protein-2 antibody positivity (HP:0034142): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NXP-2. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:221)
- Anti-histidyl tRNA synthetase antibody positivity (HP:0034152): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against histidyl tRNA synthetase. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:221)
- Telangiectasia of the skin (HP:0100585): Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:221)
- Cellulitis (HP:0100658): A bacterial infection and inflammation of the skin und subcutaneous tissues. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:221)
- Gastrointestinal stroma tumor (HP:0100723). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:221)
- 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:221)
- Gottron sign (HP:0430033): Erythematous macules or patches over extensor surfaces of elbows, knuckles, knees, and ankles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:221)
- Holster sign (HP:6000006): Symmetric poikiloderma of hips and lateral thighs below the greater trochanter. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:221)
- Palmar hyperkeratosis (HP:0010765): Abnormal thickening of the skin localized to the palm of the hand. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:221)
These phenotypes are associated with the disease Dermatomyositis (ORPHA:221).