Phenotypes associated with the disease Localized scleroderma (ORPHA:90289):
- Thickened skin (HP:0001072): Laminar thickening of skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:90289)
- Arthralgia (HP:0002829): Joint pain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90289)
- Localized skin lesion (HP:0011355): A lesion of the skin that is located in a specific region rather than being generalized. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90289)
- Stiff skin (HP:0030053): An induration (hardening) of the skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:90289)
- 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: Frequent (HP:0040282). (ORPHA:90289)
- Abnormality of the dentition (HP:0000164): Any abnormality of the teeth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90289)
- Abnormal upper lip morphology (HP:0000177): An abnormality of the upper lip. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90289)
- Facial asymmetry (HP:0000324): An abnormal difference between the left and right sides of the face. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90289)
- Abnormality of vision (HP:0000504): Abnormality of eyesight (visual perception). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90289)
- Uveitis (HP:0000554): Inflammation of one or all portions of the uveal tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90289)
- Dental malocclusion (HP:0000689): Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90289)
- 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:90289)
- Hypopigmented skin patches (HP:0001053). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90289)
- Arthritis (HP:0001369): Inflammation of a joint. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90289)
- 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:90289)
- 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:90289)
- Migraine (HP:0002076): Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90289)
- Patchy alopecia (HP:0002232): Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90289)
- 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: Occasional (HP:0040283). (ORPHA:90289)
- Autoimmunity (HP:0002960): The occurrence of an immune reaction against the organism's own cells or tissues. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90289)
- Myopathy (HP:0003198): A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90289)
- Abnormal cheek morphology (HP:0004426): An abnormality of the cheek- one of two bilateral soft tissue facial structures in the region of the face inferior to the eyes and between the nose and the ear. "Buccal" means relating to the cheek. The cheek is part of the midface. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90289)
- Short dental root (HP:0006336): Tooth root length more than 2 SD below mean, or subjectively apparently decreased tooth root length. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90289)
- Progressive loss of facial adipose tissue (HP:0009019). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90289)
- Erythema (HP:0010783): Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90289)
- Hemifacial atrophy (HP:0011331): Unilateral atrophy of facial tissues, including muscles, bones and skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90289)
- Abnormal facial skeleton morphology (HP:0011821): An abnormality of one or more of the set of bones that make up the facial skeleton. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90289)
- Erythematous plaque (HP:0025474): A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90289)
- Abnormality of the musculoskeletal system (HP:0033127): An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90289)
- Fasciitis (HP:0100537): Inflammation of fascia, the tissue under the skin and over the muscle. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90289)
- Upper limb asymmetry (HP:0100560): Difference in length or size between the right and left arm. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90289)
- Infra-orbital crease (HP:0100876): Skin crease extending from below the inner canthus laterally along the malar process of the maxilla and zygoma. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90289)
- Sclerosis of finger phalanx (HP:0100899): An elevation in bone density in one or more phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:90289)
- Abnormality of the kidney (HP:0000077): An abnormality of the kidney. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:90289)
- Abnormality of the nose (HP:0000366): An abnormality of the nose. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:90289)
- Deeply set eye (HP:0000490): An eye that is more deeply recessed into the plane of the face than is typical. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:90289)
- Proptosis (HP:0000520): An eye that is protruding anterior to the plane of the face to a greater extent than is typical. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:90289)
- Abnormality of the nervous system (HP:0000707): An abnormality of the nervous system. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:90289)
- Hashimoto thyroiditis (HP:0000872): A chronic, autoimmune type of thyroiditis associated with hypothyroidism. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:90289)
- Vitiligo (HP:0001045). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:90289)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:90289)
- Stroke (HP:0001297): Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:90289)
- Abnormality of the cardiovascular system (HP:0001626): Any abnormality of the cardiovascular system. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:90289)
- Abnormality of the respiratory system (HP:0002086): An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:90289)
- Focal impaired awareness seizure (HP:0002384): Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:90289)
- Vasculitis (HP:0002633): Inflammation of blood vessel. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:90289)
- Skeletal muscle atrophy (HP:0003202): The presence of skeletal muscular atrophy (which is also known as amyotrophy). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:90289)
- Abnormal bone structure (HP:0003330): Any anomaly in the composite material or the layered arrangement of the bony skeleton. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:90289)
- 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 rare (HP:0040284). (ORPHA:90289)
- Abnormal skin adnexa morphology (HP:0011138): An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:90289)
- 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: Very rare (HP:0040284). (ORPHA:90289)
- Abnormality on pulmonary function testing (HP:0030878): Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:90289)
- Raynaud phenomenon (HP:0030880). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:90289)
- Esophagitis (HP:0100633): Inflammation of the esophagus. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:90289)
- Skin erosion (HP:0200041): A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:90289)