{"Name":"Hydrocephalus-blue sclerae-nephropathy syndrome","DiseaseID__c":"GARD:0000236","id":236,"encodedName":"hydrocephalus-blue-sclerae-nephropathy-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Hydrocephalus-blue sclerae-nephropathy syndrome","Xref_IDs__c":"C2931014; C535768; MEDGEN:418960; MONDO:0016350; ORPHA:2186","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0016350","Disease_Description__c":"A rare, genetic, renal malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978.","GARD_Name__c":"Hydrocephalus-blue sclerae-nephropathy syndrome","GARD_Synonym__c":"daentl towsend siegel syndrome; daentl-townsend-siegel syndrome; familial nephrosis, hydrocephalus, thin skin, blue sclerae syndrome; hydrocephalus blue sclera nephropathy","Curated_Disease_Description_Source__c":"MONDO:0016350","Curated_Disease_Description__c":"A rare, genetic, renal malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:2186","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016350","ORPHANET_ID__c":"ORPHA:2186","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hidrocefalia-escleróticas azules-nefropatía","Spanish_Description_Source__c":"ORPHA:2186","Spanish_Description__c":"Es un síndrome de malformación renal o del tracto urinario, genético y poco frecuente, caracterizado por síndrome nefrótico con esclerosis focal y segmentaria, asociada a hidrocefalia, piel delgada y esclerótica azul. No ha habido más casos descritos en la literatura desde 1978.","Spanish_Disease_Name__c":"síndrome de hidrocefalia-escleróticas azules-nefropatía","Spanish_GARD_Synonym__c":"síndrome de daentl-townsend-siegel","Category_Linearization__c":"ORPHA:93890","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":"A rare, genetic, renal malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978.","Curated_Disease_Description_Source__c":"MONDO:0016350","GARD_Synonym__c":"daentl towsend siegel syndrome; daentl-townsend-siegel syndrome; familial nephrosis, hydrocephalus, thin skin, blue sclerae syndrome; hydrocephalus blue sclera nephropathy","Name":"Hydrocephalus-blue sclerae-nephropathy syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Ophthalmology","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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"No data available","Provided_By__c":"ORPHA:2186"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931014","Source__c":"C2931014","Xref__c":"C2931014"},{"URL__c":"https://www.orpha.net/en/disease/detail/2186","Source__c":"C2931014; MONDO:0016350","Xref__c":"ORPHA:2186"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535768","Source__c":"MONDO:0016350","Xref__c":"C535768"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=418960","Source__c":"C2931014","Xref__c":"MEDGEN:418960"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016350","Source__c":"GARD:0000236","Xref__c":"MONDO:0016350"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Nephrology"],"Account":["Nephrology"]},"synonyms":["daentl towsend siegel syndrome"," daentl-townsend-siegel syndrome"," familial nephrosis, hydrocephalus, thin skin, blue sclerae syndrome"," hydrocephalus blue sclera nephropathy"]}