{"Name":"Schistosomiasis","DiseaseID__c":"GARD:0009687","id":9687,"encodedName":"schistosomiasis","IsDeleted":false,"Disease_Name_Full__c":"Schistosomiasis","Xref_IDs__c":"10087007; B65; C0036323; C35000; D012552; DOID:1395; MEDGEN:48573; MONDO:0015254; ORPHA:1247","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":2,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0015254","Disease_Description__c":"A rare parasitic disease characterized by infection with trematodes of the genus <i>Schistosoma</i>. Humans become infected when larvae (cercariae) in infested freshwater penetrate the skin, potentially causing cercarial dermatitis. After a few weeks, eggs laid by the adult female worms living in blood vessels become trapped in body tissues, causing progressive organ damage due to inflammation, granuloma formation, and fibrosis. Acute schistosomiasis presents with fever, cough, headache, and urticaria, while chronic manifestations depend on the localization of the eggs and typically include abdominal pain, diarrhea, hepatosplenomegaly, blood in stool or urine, and dysuria, among others.","GARD_Name__c":"Schistosomiasis","GARD_Synonym__c":"bilharzia; bilharziasis; blood fluke infection; disease caused by schistosomatidae; hemic distomiasis; infection by schistosoma; infection caused by schistosoma; schistosomiasis - bilharziasis; schistosomosis; snail fever","Curated_Disease_Description_Source__c":"GARD:0009687","Curated_Disease_Description__c":"Schistosomiasis is a disease caused by parasitic worms. Infection occurs through contact with contaminated water. The parasite in its infective stages is called a cercaria. It swims freely in open bodies of water. On contact with humans, the parasite burrows into the skin, matures into another stage (schistosomula), then migrates to the lungs and liver, where it matures into the adult form. The adult worm then migrates to its preferred body part (bladder, rectum, intestines, liver, portal venous system (the veins that carry blood from the intestines to liver, spleen, lungs), depending on its species. Schistosomiasis is common in many tropical and subtropical areas worldwide.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:1247","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015254","ORPHANET_ID__c":"ORPHA:1247","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Esquistosomiasis","Spanish_Description_Source__c":"ORPHA:1247","Spanish_Description__c":"Es una rara enfermedad parasitaria caracterizada por la infección por trematodos del género <i>Schistosoma</i>. Los seres humanos se infectan cuando las larvas (cercarias) del agua dulce infestada penetran la piel, causando potencialmente dermatitis por cercarias. Después de unas semanas, los huevos puestos por las lombrices adultas que viven en los vasos sanguíneos quedan atrapados en los tejidos del cuerpo, causando daño progresivo a los órganos debido a la inflamación, la formación de granulomas y la fibrosis. La esquistosomiasis aguda se presenta con fiebre, tos, cefalea y urticaria, mientras que las manifestaciones crónicas dependen de la localización de los huevos y típicamente incluyen dolor abdominal, diarrea, hepatoesplenomegalia, sangre en las heces u orina y disuria, entre otras.","Spanish_Disease_Name__c":"esquistosomiasis","Spanish_GARD_Synonym__c":"bilharziosis","Category_Linearization__c":"ORPHA:68416","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":"Schistosomiasis is a disease caused by parasitic worms. Infection occurs through contact with contaminated water. The parasite in its infective stages is called a cercaria. It swims freely in open bodies of water. On contact with humans, the parasite burrows into the skin, matures into another stage (schistosomula), then migrates to the lungs and liver, where it matures into the adult form. The adult worm then migrates to its preferred body part (bladder, rectum, intestines, liver, portal venous system (the veins that carry blood from the intestines to liver, spleen, lungs), depending on its species. Schistosomiasis is common in many tropical and subtropical areas worldwide.","Curated_Disease_Description_Source__c":"GARD:0009687","GARD_Synonym__c":"bilharzia; bilharziasis; blood fluke infection; disease caused by schistosomatidae; hemic distomiasis; infection by schistosoma; infection caused by schistosoma; schistosomiasis - bilharziasis; schistosomosis; snail fever","Name":"Schistosomiasis","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Global Schistosomiasis Alliance","Website__c":"https://www.eliminateschisto.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Infectious Disease","Tag_Category__c":"Disease Category;Specialist","category_description":"Infectious diseases are caused by bacteria, viruses, fungi, or parasites entering the body, multiplying, and spreading illness.","curated_tag_name":"Infectious diseases"},{"Tag_Name__c":"Rare Parasitic Disease","Tag_Category__c":"Cause","curated_tag_name":"Parasitic Infectious Diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:1247"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/1247","Source__c":"MONDO:0015254","Xref__c":"ORPHA:1247"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0036323","Source__c":"C0036323","Xref__c":"C0036323"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C012552","Source__c":"C0036323; MONDO:0015254","Xref__c":"D012552"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=10087007","Source__c":"C0036323; MONDO:0015254","Xref__c":"10087007"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C35000","Source__c":"C0036323; MONDO:0015254","Xref__c":"C35000"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A1395","Source__c":"MONDO:0015254","Xref__c":"DOID:1395"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=48573","Source__c":"C0036323","Xref__c":"MEDGEN:48573"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/B65","Source__c":"MONDO:0015254","Xref__c":"B65"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015254","Source__c":"GARD:0009687","Xref__c":"MONDO:0015254"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=105661001","Source__c":"C0036323","Xref__c":"105661001"},{"URL__c":"https://www.cdc.gov/schistosomiasis/index.html"},{"URL__c":"https://www.niaid.nih.gov/diseases-conditions/schistosomiasis-bilharzia"}],"tags":{"Disease Category":["Infectious Disease"],"Specialist":["Infectious Disease","Pediatrics"],"Cause":["Rare Parasitic Disease"]},"synonyms":["bilharzia"," bilharziasis"," blood fluke infection"," disease caused by schistosomatidae"," hemic distomiasis"," infection by schistosoma"," infection caused by schistosoma"," schistosomiasis - bilharziasis"," schistosomosis"," snail fever"]}