{"Name":"Localized scleroderma","DiseaseID__c":"GARD:0007058","id":7058,"encodedName":"localized-scleroderma","IsDeleted":false,"Disease_Name_Full__c":"Localized scleroderma","Xref_IDs__c":"201048007; C0036420; C72069; D012594; DOID:8472; L94.0; MEDGEN:48586; MONDO:0019562; ORPHA:90289","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0019562","Disease_Description__c":"A rare skin disease characterized by inflammatory and sclerosing disease affecting the skin and underlying connective tissues (subcutaneous tissue, fascia, muscle or bone). It causes cutaneous patches or bands of skin inflammation and thickness affecting the head, neck region, trunk and extremities.","GARD_Name__c":"Localized scleroderma","GARD_Synonym__c":"addison's keloid; circumscribed scleroderma; localised fibrosing scleroderma; localised morphea; localised morphoea; localised scleroderma (disorder) [ambiguous]; localized dermatosclerosis; localized fibrosing scleroderma; localized morphea; localized morphoea; localized scleroderma (disorder) [ambiguous]; morphea; morphea scleroderma; scleroderma, circumscribed or localised; scleroderma, circumscribed or localized","Curated_Disease_Description_Source__c":"GARD:0007058","Curated_Disease_Description__c":"Localized scleroderma is characterized by thickening of the skin from excessive collagen deposits. Collagen is a protein normally present in our skin that provides structural support. However, when too much collagen is made, the skin becomes stiff and hard. Localized types of scleroderma are those limited to the skin and related tissues and, in some cases, the muscle below. Internal organs are not affected by Localized scleroderma, and Localized scleroderma can never progress to the systemic form of the disease. Often, localized conditions improve or go away on their own over time, but the skin changes and damage that occur when the disease is active can be permanent. For some people, Localized scleroderma is serious and disabling. There are two generally recognized types of Localized scleroderma: morphea and linear.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:90289","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019562","ORPHANET_ID__c":"ORPHA:90289","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Esclerodermia localizada","Spanish_Description_Source__c":"ORPHA:90289","Spanish_Description__c":"Es una enfermedad cutánea poco frecuente caracterizada por un trastorno inflamatorio y esclerosante que afecta a la piel y a los tejidos conectivos subyacentes (tejido subcutáneo, fascia, músculo o hueso) que se manifiesta con parches o bandas cutáneas de piel inflamada y engrosada que afectan a la cabeza, a la región del cuello, al tronco y a las extremidades.","Spanish_Disease_Name__c":"esclerodermia localizada","Spanish_GARD_Synonym__c":"esclerodermia fibrosante localizada","Category_Linearization__c":"ORPHA:89826","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Localized scleroderma is characterized by thickening of the skin from excessive collagen deposits. Collagen is a protein normally present in our skin that provides structural support. However, when too much collagen is made, the skin becomes stiff and hard. Localized types of scleroderma are those limited to the skin and related tissues and, in some cases, the muscle below. Internal organs are not affected by Localized scleroderma, and Localized scleroderma can never progress to the systemic form of the disease. Often, localized conditions improve or go away on their own over time, but the skin changes and damage that occur when the disease is active can be permanent. For some people, Localized scleroderma is serious and disabling. There are two generally recognized types of Localized scleroderma: morphea and linear.","Curated_Disease_Description_Source__c":"GARD:0007058","GARD_Synonym__c":"addison's keloid; circumscribed scleroderma; localised fibrosing scleroderma; localised morphea; localised morphoea; localised scleroderma (disorder) [ambiguous]; localized dermatosclerosis; localized fibrosing scleroderma; localized morphea; localized morphoea; localized scleroderma (disorder) [ambiguous]; morphea; morphea scleroderma; scleroderma, circumscribed or localised; scleroderma, circumscribed or localized","Name":"Localized scleroderma","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Scleroderma Foundation","Website__c":"https://www.scleroderma.org"},{"Account_Name__c":"Scleroderma Research Foundation","Website__c":"https://srfcure.org/"},{"Account_Name__c":"Scleroderma Society of Ontario","Website__c":"https://www.hardword.ca/"},{"Account_Name__c":"Scleroderma & Raynaud's UK","Website__c":"https://www.sruk.co.uk"},{"Account_Name__c":"Scleroderma Canada","Website__c":"https://www.scleroderma.ca/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:90289"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=201048007","Source__c":"C0036420; MONDO:0019562","Xref__c":"201048007"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C012594","Source__c":"C0036420; MONDO:0019562","Xref__c":"D012594"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0036420","Source__c":"C0036420","Xref__c":"C0036420"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C72069","Source__c":"C0036420; MONDO:0019562","Xref__c":"C72069"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=48586","Source__c":"C0036420","Xref__c":"MEDGEN:48586"},{"URL__c":"https://www.orpha.net/en/disease/detail/90289","Source__c":"C0036420; MONDO:0019562; ORPHA:90289","Xref__c":"ORPHA:90289"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A8472","Source__c":"MONDO:0019562","Xref__c":"DOID:8472"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019562","Source__c":"GARD:0007058","Xref__c":"MONDO:0019562"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/L94.0","Source__c":"MONDO:0019562","Xref__c":"L94.0"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:90289","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal difference between the left and right sides of the face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000324","HPO_Synonym__c":"Asymmetric facies; Asymmetry of face; Asymmetry of right and left side of face; Crooked face; Facial asymmetry; Unsymmetrical face","HPO_Name__c":"Facial asymmetry","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90289","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An eye that is more deeply recessed into the plane of the face than is typical.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000490","HPO_Synonym__c":"Deep set eye; Deep-set eyes; Deeply set eye; Enophthalmos; Ocular depression; Sunken eye; Sunken eyes","HPO_Name__c":"Deeply set eye","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90289","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of a joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001369","HPO_Synonym__c":"Arthritis; Joint inflammation","HPO_Name__c":"Arthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90289","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Tooth root length more than 2 SD below mean, or subjectively apparently decreased tooth root length.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006336","HPO_Synonym__c":"Decreased length of dental roots; Decreased length of tooth roots; Dental root hypoplasia; Dental root hypotrophy; Rhizomicry; Root dwarfism; Short dental roots; Short tooth roots; Underdeveloped dental roots","HPO_Name__c":"Short dental root","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90289","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Skin crease extending from below the inner canthus laterally along the malar process of the maxilla and zygoma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100876","HPO_Synonym__c":"Crease in skin under the eye; Groove in skin under the eye; Infraorbital crease; Infraorbital creases; Underorbital skin creases","HPO_Name__c":"Infra-orbital crease","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90289","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90289","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000689","HPO_Synonym__c":"Bad bite; Bilateral crossbite; Bilateral crossbite malocclusion; Incorrect relation between upper and lower dental arches; Malalignment of upper and lower dental arches; Malocclusion; Malocclusion of teeth; Misalignment of upper and lower dental arches; Occlusion anomaly","HPO_Name__c":"Dental malocclusion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90289","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormality of the nose.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000366","HPO_Synonym__c":"Abnormality of the nose; Anomaly of the nose; Nasal abnormality; Nasal anomaly","HPO_Name__c":"Abnormality of the nose","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90289","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100899","HPO_Synonym__c":"Increased bone density in the finger bone; Sclerosis of the phalanges of the hand","HPO_Name__c":"Sclerosis of finger phalanx","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90289","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A darkening of the skin related to an increase in melanin production and deposition.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000953","HPO_Synonym__c":"Cutaneous hyperpigmentation; Hyperpigmented lesion; Increased skin pigmentation; Patchy darkened skin; Skin hyperpigmentation","HPO_Name__c":"Hyperpigmentation of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90289","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"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).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031359","HPO_Name__c":"Cutaneous sclerotic plaque","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90289","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Inflammation of blood vessel.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002633","HPO_Synonym__c":"Angiitis; Inflammation of blood vessel","HPO_Name__c":"Vasculitis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90289","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of fascia, the tissue under the skin and over the muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100537","HPO_Synonym__c":"Inflammation of the fascia","HPO_Name__c":"Fasciitis","Feature_System__c":"Musculoskeletal System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90289","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Any anomaly in the composite material or the layered arrangement of the bony skeleton.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003330","HPO_Name__c":"Abnormal bone structure","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90289","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An induration (hardening) of the skin","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030053","HPO_Synonym__c":"Indurated skin; Skin induration; Stiff skin","HPO_Name__c":"Stiff skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90289","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Laminar thickening of skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001072","HPO_Synonym__c":"Pachydermia; Thick skin; Thickened skin","HPO_Name__c":"Thickened skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90289","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A lesion of the skin that is located in a specific region rather than being generalized.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011355","HPO_Synonym__c":"Localized skin lesion","HPO_Name__c":"Localized skin lesion","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90289","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of one or more of the set of bones that make up the facial skeleton.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011821","HPO_Synonym__c":"Abnormality of facial skeleton; Anomaly of facial skeleton","HPO_Name__c":"Abnormal facial skeleton morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90289","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009019","HPO_Synonym__c":"Atrophy of facial adipose tissue; Facial fat atrophy; Facial fat wasting; Loss of subcutaneous adipose tissue from face, progressive; Progressive loss of facial fat; Progressive loss of facial subcutaneous adipose tissue; Progressive loss of subcutaneous adipose tissue from face","HPO_Name__c":"Progressive loss of facial adipose tissue","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90289","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001297","HPO_Synonym__c":"Cerebral vascular events; Cerebrovascular accident; Stroke","HPO_Name__c":"Stroke","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90289","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Unilateral atrophy of facial tissues, including muscles, bones and skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011331","HPO_Synonym__c":"Atrophy of half of face; Atrophy of one side of the face; Facial hemiatrophy","HPO_Name__c":"Hemifacial atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90289","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the upper lip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000177","HPO_Synonym__c":"Abnormality of upper lip","HPO_Name__c":"Abnormal upper lip morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90289","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Inflammation of the esophagus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100633","HPO_Synonym__c":"Inflammation of the esophagus; Oesophagitis","HPO_Name__c":"Esophagitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90289","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Difference in length or size between the right and left arm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100560","HPO_Synonym__c":"Unequal size of arms","HPO_Name__c":"Upper limb asymmetry","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90289","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormality of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000077","HPO_Synonym__c":"Abnormal kidney; Abnormality of the kidney; Renal anomalies; Renal anomaly","HPO_Name__c":"Abnormality of the kidney","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90289","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Any abnormality of the cardiovascular system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001626","HPO_Synonym__c":"Abnormality of the cardiovascular system; Cardiovascular abnormality","HPO_Name__c":"Abnormality of the cardiovascular system","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90289","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030878","HPO_Synonym__c":"Abnormal pulmonary function test","HPO_Name__c":"Abnormality on pulmonary function testing","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Procedure_PFT"}},{"Provided_By__c":"ORPHA:90289","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033127","HPO_Name__c":"Abnormality of the musculoskeletal system","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90289","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any abnormality of the teeth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000164","HPO_Synonym__c":"Abnormal dentition; Abnormal teeth; Dental abnormalities; Dental abnormality; Dental anomalies","HPO_Name__c":"Abnormality of the dentition","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90289","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001045","HPO_Synonym__c":"Blotchy loss of skin color","HPO_Name__c":"Vitiligo","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90289","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001371","HPO_Synonym__c":"Flexed joint that cannot be straightened; Flexion contractures; Flexion contractures of joints","HPO_Name__c":"Flexion contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90289","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011675","HPO_Synonym__c":"Abnormal heart rate; Arrhythmias; Cardiac arrhythmia; Cardiac arrhythmias; Cardiac rhythm disturbances; Heart rhythm disorders; Irregular heart beat; Irregular heartbeat","HPO_Name__c":"Arrhythmia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90289","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008066","HPO_Synonym__c":"Abnormal blistering of the skin; Blister; Blistering, generalized; Blisters; Skin bullae","HPO_Name__c":"Abnormal blistering of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90289","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025474","HPO_Name__c":"Erythematous plaque","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90289","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The occurrence of an immune reaction against the organism's own cells or tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002960","HPO_Synonym__c":"Autoimmune condition; Autoimmune disease; Autoimmune disorder; Autoimmunity","HPO_Name__c":"Autoimmunity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90289","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002232","HPO_Synonym__c":"Alopecia areata; Patchy baldness","HPO_Name__c":"Patchy alopecia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90289","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002384","HPO_Synonym__c":"Complex focal seizures; Complex partial seizure; Complex partial seizures; Dyscognitive seizures; Focal dyscognitive seizure; Focal impaired awareness seizures; Focal seizure with impairment of awareness; Focal seizure with loss of awareness; Focal seizures with impairment of consciousness or awareness; Localised dyscognitive seizure; Localised seizure with impaired awareness; Localised seizure with loss of awareness; Localized dyscognitive seizure; Localized seizure with impaired awareness; Localized seizure with loss of awareness; Partial dyscognitive seizure; Partial seizure with impairment of awareness; Partial seizure with loss of awareness","HPO_Name__c":"Focal impaired awareness seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90289","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002315","HPO_Synonym__c":"Headache; Headaches","HPO_Name__c":"Headache","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90289","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002076","HPO_Synonym__c":"Intermittent migraine headaches; Migraine; Migraine headache; Migraine headaches","HPO_Name__c":"Migraine","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90289","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011138","HPO_Synonym__c":"Abnormal skin appendage; Abnormality of skin adnexa morphology","HPO_Name__c":"Abnormal skin adnexa morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90289","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010783","HPO_Synonym__c":"Redness of skin or mucous membrane","HPO_Name__c":"Erythema","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90289","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002020","HPO_Synonym__c":"Acid reflux; Acid reflux disease; Gastro-esophageal reflux; Gastroesophageal reflux disease; GERD; GORD; Heartburn","HPO_Name__c":"Gastroesophageal reflux","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90289","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of one or all portions of the uveal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000554","HPO_Name__c":"Uveitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90289","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002086","HPO_Synonym__c":"Respiratory abnormality","HPO_Name__c":"Abnormality of the respiratory system","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90289","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An eye that is protruding anterior to the plane of the face to a greater extent than is typical.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000520","HPO_Synonym__c":"Anterior bulging of the globe; Anterior bulging of the globe of eye; Bulging eye; Exophthalmos; Eyeballs bulging out; Ocular proptosis; Prominent eyes; Prominent globes; Protruding eyes; Protrusio bulbi","HPO_Name__c":"Proptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90289","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A chronic, autoimmune type of thyroiditis associated with hypothyroidism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000872","HPO_Synonym__c":"Chronic lymphocytic thyroiditis; Hashimoto's thyroiditis","HPO_Name__c":"Hashimoto thyroiditis","Feature_System__c":"Endocrine System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90289","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030880","HPO_Synonym__c":"Raynaud's phenomenon","HPO_Name__c":"Raynaud phenomenon","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90289","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200041","HPO_Name__c":"Skin erosion","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90289","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormality of the nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000707","HPO_Synonym__c":"Abnormality of the nervous system; Neurologic abnormalities; Neurological abnormality","HPO_Name__c":"Abnormality of the nervous system","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90289","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Joint pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002829","HPO_Synonym__c":"Arthralgias; Joint pain","HPO_Name__c":"Arthralgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90289","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormality of eyesight (visual perception).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000504","HPO_Synonym__c":"Abnormality of sight; Abnormality of vision; Vision issue","HPO_Name__c":"Abnormality of vision","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90289","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001053","HPO_Synonym__c":"Patchy loss of skin color","HPO_Name__c":"Hypopigmented skin patches","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90289","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"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","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004426","HPO_Synonym__c":"Abnormality of the cheek; Abnormality of the cheeks","HPO_Name__c":"Abnormal cheek morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90289","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003198","HPO_Synonym__c":"Muscle tissue disease; Myopathic changes","HPO_Name__c":"Myopathy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90289","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of skeletal muscular atrophy (which is also known as amyotrophy).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003202","HPO_Synonym__c":"Amyotrophy; Amyotrophy involving the extremities; Muscle atrophy; Muscle atrophy, neurogenic; Muscle degeneration; Muscle hypotrophy; Muscle wasting; Muscular atrophy; Neurogenic muscle atrophy; Neurogenic muscle atrophy, especially in the lower limbs; Neurogenic muscular atrophy","HPO_Name__c":"Skeletal muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Account":["Dermatology"],"Disease Category":["Dermatology"],"Specialist":["Dermatology","Pediatrics"]},"synonyms":["addison's keloid"," circumscribed scleroderma"," localised fibrosing scleroderma"," localised morphea"," localised morphoea"," localised scleroderma (disorder) [ambiguous]"," localized dermatosclerosis"," localized fibrosing scleroderma"," localized morphea"," localized morphoea"," localized scleroderma (disorder) [ambiguous]"," morphea"," morphea scleroderma"," scleroderma, circumscribed or localised"," scleroderma, circumscribed or localized"]}