- 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:95455)
- Myalgia (HP:0003326): Pain in muscle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:95455)
- Rhinitis (HP:0012384): Inflammation of the nasal mucosa with nasal congestion. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:95455)
- 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:95455)
- Abnormal bronchus morphology (HP:0025426): Any structural anomaly of the bronchi, i.e., of the airways leading from the trachea to the lungs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:95455)
- Pharyngitis (HP:0025439): Inflammation (due to infection or irritation) of the pharynx. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:95455)
- Genital blistering (HP:0031464): The presence of one or more bullae on the skin of the genital region, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:95455)
- Acantholysis (HP:0100792): The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:95455)
- 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:95455)
- Oral mucosal blisters (HP:0200097): Blisters arising in the mouth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:95455)
- Oral-pharyngeal dysphagia (HP:0200136). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:95455)
- Abnormal penis morphology (HP:0000036): Abnormality of the male external sex organ. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95455)
- Xerostomia (HP:0000217): Dryness of the mouth due to salivary gland dysfunction. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95455)
- Keratitis (HP:0000491): Inflammation of the cornea. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95455)
- Visual loss (HP:0000572): Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95455)
- Photophobia (HP:0000613): Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95455)
- Depression (HP:0000716): Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95455)
- 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:95455)
- 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:95455)
- Trichiasis (HP:0001128): Inversion and rubbing of the eyelashes against the globe of the eye. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95455)
- Abnormality of the larynx (HP:0001600): An abnormality of the larynx. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95455)
- Decreased total neutrophil count (HP:0001875): Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95455)
- 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:95455)
- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95455)
- Pneumonia (HP:0002090): Inflammation of any part of the lung parenchyma. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95455)
- Abdominal distention (HP:0003270): Distention of the abdomen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95455)
- Abnormality of the anus (HP:0004378): Abnormality of the anal canal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95455)
- Gastrointestinal inflammation (HP:0004386): Inflammation of the alimentary part of the gastrointestinal system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95455)
- Respiratory failure requiring assisted ventilation (HP:0004887): A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95455)
- Nail dystrophy (HP:0008404): Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95455)
- Renal tubular epithelial necrosis (HP:0008682): Coagulative necrosis of tubular epithelial cells, defined as cells with increased cytoplasmic eosinophilia and nucleus that has a condensed chromatin pattern with fuzzy nuclear contour or has barely visible nuclear basophilic staining. The extent of cortical tubular necrosis is scoredsemiquantitatively as none, mild (less than 25% tubules with necrosis), moderate (25-50 percent), and severe (over 50%). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95455)
- Oral synechia (HP:0010285): Fibrous band between the mucosal surfaces of the upper and lower alveolar ridges. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95455)
- Generalized abnormality of skin (HP:0011354): An abnormality of the skin that is not localized to any one particular region. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95455)
- Anterior uveitis (HP:0012122): Inflammation of the uveal tract in which the primary site of inflammation is the anterior chamber. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95455)
- Chemosis (HP:0012375): Edema (swelling) of the bulbar conjunctiva. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95455)
- Moderate albuminuria (HP:0012594): The presence of moderately increased concentrations of albumin in the urine, defined as and albumin-creatinine ratio (ACR) of 30 to 299 mg/gm (3.4 to 34 mg/mmol). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95455)
- Vaginal stricture (HP:0025416): A narrowing of the vagina owing to scar formation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95455)
- Vulvodynia (HP:0030943): Pain in the vulvar area. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95455)
- Vaginal dryness (HP:0031088): Persistent vaginal dryness. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95455)
- Increased tear production (HP:0031731): Increased lacrimation owing to overproduction of tears. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95455)
- Dysuria (HP:0100518): Painful or difficult urination. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95455)
- Corneal erosion (HP:0200020): An erosion or abrasion of the cornea's outermost layer of epithelial cells. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95455)
- Symblepharon (HP:0430007): A partial or complete adhesion of the palpebral conjunctiva of the eyelid to the bulbar conjunctiva of the eyeball. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95455)
- 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: Very rare (HP:0040284). (ORPHA:95455)
- Anonychia (HP:0001798): Aplasia of the nail. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:95455)
- Chronic lung disease (HP:0006528): According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:95455)
- Intestinal perforation (HP:0031368): A hole (perforation) in the wall of the intestine. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:95455)
- Sepsis (HP:0100806): Sepsis is defined as life-threatening organ dysfunction caused by a dysregulated host response to infection. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:95455)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:95455)
- Abnormal blistering of the skin (HP:0008066): The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:95455)
- Inflammatory abnormality of the skin (HP:0011123): The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:95455)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:95455)
- Conjunctival hyperemia (HP:0030953): Dilatation of the blood vessels of the conjunctiva leading to a red appearance of the sclera. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:95455)
- Conjunctivitis (HP:0000509): Inflammation of the conjunctiva. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:95455)
- Abnormality of the pharynx (HP:0000600): An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:95455)
- Anxiety (HP:0000739): Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:95455)
- Hyperpigmentation of the skin (HP:0000953): A darkening of the skin related to an increase in melanin production and deposition. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:95455)
- Atypical scarring of skin (HP:0000987): Atypically scarred skin . Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:95455)
- Skin rash (HP:0000988): A red eruption of the skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:95455)
- 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: Frequent (HP:0040282). (ORPHA:95455)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:95455)
- Anorexia (HP:0002039): Lack of desire to eat (loss of appetite). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:95455)
- 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: Frequent (HP:0040282). (ORPHA:95455)
- Headache (HP:0002315): Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:95455)
These phenotypes are associated with the disease Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum (ORPHA:95455).