{"Name":"Adult familial nephronophthisis-spastic quadriparesia syndrome","DiseaseID__c":"GARD:0018777","id":18777,"encodedName":"adult-familial-nephronophthisis-spastic-quadriparesia-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Adult familial nephronophthisis-spastic quadriparesia syndrome","Xref_IDs__c":"C4518090; MEDGEN:1385988; MONDO:0017044; ORPHA:2666","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":0,"World_Estimate__c":"1 to 8,000","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:0017044","Disease_Description__c":"A rare, genetic, renal disease characterized by the association of familial adult medullary cystic disease with spastic quadriparesis. There have been no further descriptions in the literature since 1990.","GARD_Name__c":"Adult familial nephronophthisis-spastic quadriparesia syndrome","GARD_Synonym__c":"adult familial nephronophthisis with spastic quadriparesia syndrome","Curated_Disease_Description_Source__c":"ORPHA:2666","Curated_Disease_Description__c":"A rare, genetic, renal disease characterized by the association of familial adult medullary cystic disease with spastic quadriparesis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:2666","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017044","ORPHANET_ID__c":"ORPHA:2666","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de nefronoptisis familiar del adulto-quadriparesia espástica","Spanish_Description_Source__c":"ORPHA:2666","Spanish_Description__c":"A rare, genetic, renal disease characterized by the association of familial adult medullary cystic disease with spastic quadriparesis. There have been no further descriptions in the literature since 1990.","Spanish_Disease_Name__c":"síndrome de nefronoptisis familiar del adulto-quadriparesia espástica","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93626","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 disease characterized by the association of familial adult medullary cystic disease with spastic quadriparesis.","Curated_Disease_Description_Source__c":"ORPHA:2666","GARD_Synonym__c":"adult familial nephronophthisis with spastic quadriparesia syndrome","Name":"Adult familial nephronophthisis-spastic quadriparesia 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":"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:2666"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1385988","Source__c":"C4518090","Xref__c":"MEDGEN:1385988"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4518090","Source__c":"C4518090","Xref__c":"C4518090"},{"URL__c":"https://www.orpha.net/en/disease/detail/2666","Source__c":"C4518090; MONDO:0017044; ORPHA:2666","Xref__c":"ORPHA:2666"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017044","Source__c":"GARD:0018777","Xref__c":"MONDO:0017044"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=733650000","Source__c":"C4518090","Xref__c":"733650000"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology"],"Specialist":["Genetics","Nephrology"],"Account":["Nephrology"]},"synonyms":["adult familial nephronophthisis with spastic quadriparesia syndrome"]}