{"Name":"Systemic sclerosis","DiseaseID__c":"GARD:0009748","id":9748,"encodedName":"systemic-sclerosis","IsDeleted":false,"Disease_Name_Full__c":"Systemic sclerosis","Xref_IDs__c":"89155008; C0036421; C72070; D012595; DOID:418; M34; MEDGEN:19897; MONDO:0005100; ORPHA:90291","USA_Estimate__c":"200,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":2,"World_Estimate__c":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0005100","Disease_Description__c":"A chronic disorder, possibly autoimmune, marked by excessive production of collagen which results in hardening and thickening of body tissues. The two types of systemic scleroderma, limited cutaneous and diffuse cutaneous are classified with focus on the extent of affected skin. A relationship exists between the extent of skin area affected and degree of internal organ/system involvement. Systemic scleroderma can manifest itself in pulmonary fibrosis, Raynaud's syndrome, digestive system telangiectasias, renal hypertension and/or pulmonary hypertension.","GARD_Name__c":"Systemic sclerosis","GARD_Synonym__c":"diffuse scleroderma; diffuse sclerosis; progressive systemic sclerosis; pss (progressive systemic sclerosis); scleroderma (& [systemic sclerosis]); scleroderma syndrome; scleroderma, diffuse; scleroderma, systemic; ss - systemic sclerosis; ssc; ssc, diffuse sclerosis; systemic scleroderma","Curated_Disease_Description_Source__c":"GARD:0009748","Curated_Disease_Description__c":"Systemic scleroderma is an autoimmune disorder that affects the skin and internal organs. It is characterized by the buildup of scar tissue (fibrosis) in the skin and other organs. The fibrosis is caused by the body's production of too much collagen, which normally strengthens and supports connective tissues. The symptoms usually begin with episodes of Raynaud's phenomenon. This may be followed by puffy or swollen hands before the skin becomes thickened and hard. The fibrosis can also affect internal organs, including the esophagus, heart, lungs, and kidneys.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:90291","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0005100","ORPHANET_ID__c":"ORPHA:90291","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Esclerosis sistémica","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"esclerosis sistémica","Spanish_GARD_Synonym__c":"esclerodermia sistémica","Category_Linearization__c":"ORPHA:98023","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":"Systemic scleroderma is an autoimmune disorder that affects the skin and internal organs. It is characterized by the buildup of scar tissue (fibrosis) in the skin and other organs. The fibrosis is caused by the body's production of too much collagen, which normally strengthens and supports connective tissues. The symptoms usually begin with episodes of Raynaud's phenomenon. This may be followed by puffy or swollen hands before the skin becomes thickened and hard. The fibrosis can also affect internal organs, including the esophagus, heart, lungs, and kidneys.","Curated_Disease_Description_Source__c":"GARD:0009748","GARD_Synonym__c":"diffuse scleroderma; diffuse sclerosis; progressive systemic sclerosis; pss (progressive systemic sclerosis); scleroderma (& [systemic sclerosis]); scleroderma syndrome; scleroderma, diffuse; scleroderma, systemic; ss - systemic sclerosis; ssc; ssc, diffuse sclerosis; systemic scleroderma","Name":"Systemic sclerosis","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The International Foundation for Autoimmune & Autoinflammatory Arthritis","Website__c":"https://www.aiarthritis.org/"},{"Account_Name__c":"Autoimmune Registry","Website__c":"https://www.autoimmuneregistry.org/"},{"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/"},{"Account_Name__c":"Global Fibrosis Foundation","Website__c":"http://www.globalfibrosis.com/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cardiology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pulmonology","Tag_Category__c":"Disease Category;Specialist","category_description":"Respiratory diseases affect the nose, mouth, throat, voice box, windpipe, lungs, or blood vessels.","curated_tag_name":"Respiratory diseases"},{"Tag_Name__c":"Rheumatology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney diseases"},{"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":"Cardiomyopathy","Tag_Category__c":"Account","curated_tag_name":"Cardiomyopathy"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:90291"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=19897","Source__c":"C0036421","Xref__c":"MEDGEN:19897"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A418","Source__c":"MONDO:0005100","Xref__c":"DOID:418"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0036421","Source__c":"C0036421","Xref__c":"C0036421"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C012595","Source__c":"C0036421; MONDO:0005100","Xref__c":"D012595"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=89155008","Source__c":"C0036421; MONDO:0005100","Xref__c":"89155008"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C72070","Source__c":"C0036421; MONDO:0005100","Xref__c":"C72070"},{"URL__c":"https://www.orpha.net/en/disease/detail/90291","Source__c":"C0036421; MONDO:0005100; ORPHA:90291","Xref__c":"ORPHA:90291"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0005100","Source__c":"GARD:0009748","Xref__c":"MONDO:0005100"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/M34","Source__c":"MONDO:0005100","Xref__c":"M34"},{"URL__c":"https://medlineplus.gov/genetics/condition/systemic-scleroderma"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C197525","Source__c":"C0036421","Xref__c":"C197525"},{"URL__c":"https://medlineplus.gov/genetics/condition/systemic-scleroderma","Source__c":"GARD:0009748","Xref__c":"https://medlineplus.gov/genetics/condition/systemic-scleroderma"}],"Inheritance__c":["Non-Mendelian inheritance"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:90291","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Telangiectases in the area of the nails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001232","HPO_Synonym__c":"Nail bed telangiectases","HPO_Name__c":"Nail bed telangiectasia","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90291","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012531","HPO_Synonym__c":"Pain","HPO_Name__c":"Pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90291","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Deposition of calcium in the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025520","HPO_Synonym__c":"Cutaneous calcification","HPO_Name__c":"Calcinosis cutis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90291","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Pinhole-sized concave depressions with hyperkeratosis in the skin of a finger or toe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031293","HPO_Name__c":"Digital pitting scar","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90291","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Nor90.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034083","HPO_Synonym__c":"Anti-Nor90 antibody positivity","HPO_Name__c":"Anti-nucleolus-organizing region antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:90291","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003236","HPO_Synonym__c":"Elevated blood creatine phosphokinase; Elevated circulating creatine phosphokinase; Elevated creatine kinase; Elevated serum CPK; Elevated serum creatine kinase; Elevated serum creatine phosphokinase; High serum creatine kinase; Increased CPK; Increased creatine kinase; Increased creatine phosphokinase; Increased serum CK; Increased serum creatine kinase; Increased serum creatine phosphokinase","HPO_Name__c":"Elevated circulating creatine kinase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:90291","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against angiotensin receptor type-1.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034094","HPO_Synonym__c":"Anti-AT1R antibody positivity","HPO_Name__c":"Anti-angiotensin receptor type-1 antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:90291","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Difficulty in swallowing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002015","HPO_Synonym__c":"Difficulty swallowing; Poor swallowing; Swallowing difficulties; Swallowing difficulty","HPO_Name__c":"Dysphagia","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90291","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Pain in muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003326","HPO_Synonym__c":"Muscle ache; Muscle pain","HPO_Name__c":"Myalgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90291","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002578","HPO_Synonym__c":"Delayed gastric emptying","HPO_Name__c":"Gastroparesis","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90291","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:4000170","HPO_Synonym__c":"Antiplatelet antibodies present","HPO_Name__c":"Anti-platelet antigen antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:90291","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the renal glomeruli.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000099","HPO_Synonym__c":"Glomerular nephritis","HPO_Name__c":"Glomerulonephritis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90291","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against U3 RNP.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034080","HPO_Synonym__c":"Anti-fibrillarin antibody positivity","HPO_Name__c":"Anti-U3 RNP antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:90291","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced strength of muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001324","HPO_Synonym__c":"Muscle weakness; Muscular weakness","HPO_Name__c":"Muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90291","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001708","HPO_Synonym__c":"Impaired right ventricular function; Right ventricular impairment; Right-sided heart failure","HPO_Name__c":"Right ventricular failure","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90291","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100758","HPO_Synonym__c":"Death of body tissue due to lack of blood flow or infection","HPO_Name__c":"Gangrene","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90291","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in interstitial spaces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031329","HPO_Name__c":"Interstitial cardiac fibrosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90291","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001009","HPO_Synonym__c":"Telangiectases","HPO_Name__c":"Telangiectasia","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90291","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002754","HPO_Synonym__c":"Bone infection","HPO_Name__c":"Osteomyelitis","Feature_System__c":"Musculoskeletal System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90291","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100580","HPO_Synonym__c":"Barret syndrome; Barrett's esophagus; Endobrachyesophagus","HPO_Name__c":"Barrett esophagus","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90291","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against angiotensin-converting enzyme 2.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034117","HPO_Synonym__c":"Anti-ACE2 antibody positivity","HPO_Name__c":"Anti-angiotensin-converting enzyme 2 antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:90291","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Bleeding from the intestines.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002584","HPO_Synonym__c":"Intestinal bleeding; 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Acute renal failure; AKI","HPO_Name__c":"Acute kidney injury","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90291","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000160","HPO_Synonym__c":"Microstomia; Narrow mouth; Small mouth; Small oral aperture","HPO_Name__c":"Narrow mouth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90291","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006261","HPO_Synonym__c":"Abnormality of phalangeal joints of the hand; Abnormality of the small joints of the hand","HPO_Name__c":"Abnormal phalangeal joint morphology of the hand","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90291","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Enlargement of the soft tissues of one or more fingers.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025131","HPO_Synonym__c":"Swelling of fingers; Swollen finger; Swollen fingers","HPO_Name__c":"Finger swelling","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90291","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Telangiectasia affecting the gastrointestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002604","HPO_Synonym__c":"GI telangiectasia; Small, enlarged blood vessels near skin","HPO_Name__c":"Gastrointestinal telangiectasia","Feature_System__c":"Skin System; Cardiovascular System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90291","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies (immunoglobulins) in the serum that react against the centromeres or centromere components.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030873","HPO_Synonym__c":"ACA positivity; Anticentromere antibody positivity","HPO_Name__c":"Anti-centromere antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:90291","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against B23.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034089","HPO_Name__c":"Anti-B23 antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:90291","HPO_Frequency__c":"Frequent (30-79%)","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:90291","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against endothelin-1 type A receptor.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034095","HPO_Synonym__c":"Anti-ETAR antibody positivity","HPO_Name__c":"Anti-endothelin-1 type A receptor antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:90291","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies in the serum that react to RNA-polymerase III.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033038","HPO_Name__c":"Anti-RNA-polymerase-III-autoantibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:90291","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A noncongenital process of hair loss, which may progress to partial or complete baldness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001596","HPO_Synonym__c":"Hair loss","HPO_Name__c":"Alopecia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90291","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002094","HPO_Synonym__c":"Abnormal breathing; Breathing difficulty; Difficult to breathe; Difficulty breathing; Shortness of breath; Trouble breathing","HPO_Name__c":"Dyspnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90291","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies (immunoglobulins) in the blood circulation that react against platelet derived growth factor receptor.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034091","HPO_Synonym__c":"Anti-PDGFR antibody positivity","HPO_Name__c":"Anti-platelet derived growth factor receptor","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:90291","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000083","HPO_Synonym__c":"Renal failure; Renal failure in adulthood","HPO_Name__c":"Renal insufficiency","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90291","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A structural abnormality of the esophagus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002031","HPO_Synonym__c":"Abnormality of esophagus structure; Anomaly of the esophagus","HPO_Name__c":"Abnormal esophagus morphology","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cardiology","Pulmonology","Rheumatology","Nephrology","Dermatology"],"Disease Category":["Pulmonology","Nephrology","Dermatology"],"Account":["Nephrology","Dermatology","Cardiomyopathy"]},"synonyms":["diffuse scleroderma"," diffuse sclerosis"," progressive systemic sclerosis"," pss (progressive systemic sclerosis)"," scleroderma (& [systemic sclerosis])"," scleroderma syndrome"," scleroderma, diffuse"," scleroderma, systemic"," ss - systemic sclerosis"," ssc"," ssc, diffuse sclerosis"," systemic scleroderma"]}