{"Name":"Juvenile neuronal ceroid lipofuscinosis","DiseaseID__c":"GARD:0004938","id":4938,"encodedName":"juvenile-neuronal-ceroid-lipofuscinosis","IsDeleted":false,"Disease_Name_Full__c":"Juvenile neuronal ceroid lipofuscinosis","Xref_IDs__c":"423022365; 61663001; CN293564; MEDGEN:978346; MONDO:0019262","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":1,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0019262","Disease_Description__c":"A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities.","GARD_Name__c":"Juvenile neuronal ceroid lipofuscinosis","GARD_Synonym__c":"batten disease; jncl; juvenile ncl; spielmeyer-vogt disease","Curated_Disease_Description_Source__c":"ORPHA:79264","Curated_Disease_Description__c":"Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:79264","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019262","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities.","Curated_Disease_Description_Source__c":"ORPHA:79264","GARD_Synonym__c":"batten disease; jncl; juvenile ncl; spielmeyer-vogt disease","Name":"Juvenile neuronal ceroid lipofuscinosis","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Isaac Foundation","Website__c":"https://www.theisaacfoundation.com/"},{"Account_Name__c":"Children's Brain Disease Foundation","Website__c":"https://childrensbraindiseasesfoundation.org/"}],"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":"Lysosomal","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Lysosomal storage diseases are a group of genetic metabolic diseases that affect the ability of the body's cells to break down substances and remove toxins.","curated_tag_name":"Lysosomal storage diseases"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=61663001","Source__c":"MONDO:0019262","Xref__c":"61663001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019262","Source__c":"GARD:0004938","Xref__c":"MONDO:0019262"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=978346","Source__c":"CN293564","Xref__c":"MEDGEN:978346"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/CN293564","Source__c":"CN293564","Xref__c":"CN293564"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022365","Xref__c":"423022365"}],"tags":{"Cause":["Genetics","Lysosomal"],"Disease Category":["Genetics","Lysosomal"],"Specialist":["Genetics"],"Account":["Lysosomal"]},"synonyms":["batten disease"," jncl"," juvenile ncl"," spielmeyer-vogt disease"]}