{"Name":"Systemic sclerosis sine scleroderma","DiseaseID__c":"GARD:0009749","id":9749,"encodedName":"systemic-sclerosis-sine-scleroderma","IsDeleted":false,"Disease_Name_Full__c":"Systemic sclerosis sine scleroderma","Xref_IDs__c":"128461001; C116789; C1290138; MEDGEN:220934; MONDO:0016359; ORPHA:220407","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0016359","Disease_Description__c":"Limited systemic sclerosis (lSSc) (or SSc sine scleroderma) is a subset of systemic sclerosis (SSc; see this term) characterized by organ involvement in the absence of fibrosis of the skin.","GARD_Name__c":"Systemic sclerosis sine scleroderma","GARD_Synonym__c":"limited systemic sclerosis; ssc without skin involvement; systemic sclerosis without skin involvement; systemic sclerosis without skin thickening","Curated_Disease_Description_Source__c":"GARD:0009749","Curated_Disease_Description__c":"Limited systemic sclerosis (also known as sine scleroderma) is a type of systemic scleroderma that is characterized by Raynaud's phenomenon and the buildup of scar tissue (fibrosis) on one or more internal organs but not the skin. The exact cause of Limited systemic sclerosis is unknown. The fibrosis can affect internal organs, including the esophagus, heart, lungs, and kidneys. Internal organ involvement may be signaled by heartburn, difficulty swallowing (dysphagia), high blood pressure (hypertension), kidney problems, shortness of breath, diarrhea, or impairment of the muscle contractions that move food through the digestive tract (intestinal pseudo-obstruction).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:220407","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016359","ORPHANET_ID__c":"ORPHA:220407","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Esclerosis sistémica limitada","Spanish_Description_Source__c":"ORPHA:220407","Spanish_Description__c":"La esclerosis sistémica limitada (lSSc; por sus siglas en inglés) (o SSc sin esclerodermia) es una forma de la esclerosis sistémica (SSc, consulte este término), caracterizada por la afectación de órganos con ausencia de fibrosis cutánea.","Spanish_Disease_Name__c":"esclerosis sistémica limitada","Spanish_GARD_Synonym__c":"esclerosis sistémica sin afectación de la piel","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":"Limited systemic sclerosis (also known as sine scleroderma) is a type of systemic scleroderma that is characterized by Raynaud's phenomenon and the buildup of scar tissue (fibrosis) on one or more internal organs but not the skin. The exact cause of Limited systemic sclerosis is unknown. The fibrosis can affect internal organs, including the esophagus, heart, lungs, and kidneys. Internal organ involvement may be signaled by heartburn, difficulty swallowing (dysphagia), high blood pressure (hypertension), kidney problems, shortness of breath, diarrhea, or impairment of the muscle contractions that move food through the digestive tract (intestinal pseudo-obstruction).","Curated_Disease_Description_Source__c":"GARD:0009749","GARD_Synonym__c":"limited systemic sclerosis; ssc without skin involvement; systemic sclerosis without skin involvement; systemic sclerosis without skin thickening","Name":"Systemic sclerosis sine scleroderma","estimateUsa":""}],"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":"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:220407"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009749","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/220407","Source__c":"C1290138; MONDO:0016359","Xref__c":"ORPHA:220407"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1290138","Source__c":"C1290138","Xref__c":"C1290138"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C116789","Source__c":"C1290138; MONDO:0016359","Xref__c":"C116789"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=220934","Source__c":"C1290138","Xref__c":"MEDGEN:220934"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=128461001","Source__c":"C1290138; MONDO:0016359","Xref__c":"128461001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016359","Source__c":"GARD:0009749","Xref__c":"MONDO:0016359"}],"tags":{"Specialist":["Cardiology","Pulmonology","Rheumatology","Nephrology","Dermatology"],"Disease Category":["Pulmonology","Nephrology","Dermatology"],"Account":["Nephrology","Dermatology","Cardiomyopathy"]},"synonyms":["limited systemic sclerosis"," ssc without skin involvement"," systemic sclerosis without skin involvement"," systemic sclerosis without skin thickening"]}