{"Name":"Late-infantile neuronal ceroid lipofuscinosis","DiseaseID__c":"GARD:0017032","id":17032,"encodedName":"late-infantile-neuronal-ceroid-lipofuscinosis","IsDeleted":false,"Disease_Name_Full__c":"Late-infantile neuronal ceroid lipofuscinosis","Xref_IDs__c":"14637005; 423022435; C0022340; MEDGEN:9589; MONDO:0015674","USA_Estimate__c":"5,000","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":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0015674","Disease_Description__c":"A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration.","GARD_Name__c":"Late-infantile neuronal ceroid lipofuscinosis","GARD_Synonym__c":"amaurotic idiocy early juvenile type; amaurotic idiocy late infantile type; amaurotic idiocy, early juvenile type; amaurotic idiocy, late infantile type; bielschowsky-jansky disease; bielschowsky-jansky type neuronal ceroid lipofuscinosis; dollinger-bielschowsky syndrome; dollinger-bielschowsky type neuronal ceroid lipofuscinosis; jansky-bielschowsky disease; late infantile ncl; late infantile neuronal ceroid lipofuscinosis; lincl","Curated_Disease_Description_Source__c":"ORPHA:168491","Curated_Disease_Description__c":"Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:168491","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015674","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":"Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration.","Curated_Disease_Description_Source__c":"ORPHA:168491","GARD_Synonym__c":"amaurotic idiocy early juvenile type; amaurotic idiocy late infantile type; amaurotic idiocy, early juvenile type; amaurotic idiocy, late infantile type; bielschowsky-jansky disease; bielschowsky-jansky type neuronal ceroid lipofuscinosis; dollinger-bielschowsky syndrome; dollinger-bielschowsky type neuronal ceroid lipofuscinosis; jansky-bielschowsky disease; late infantile ncl; late infantile neuronal ceroid lipofuscinosis; lincl","Name":"Late-infantile neuronal ceroid lipofuscinosis","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Children's Brain Disease Foundation","Website__c":"https://childrensbraindiseasesfoundation.org/"},{"Account_Name__c":"BDSRA Foundation","Website__c":"https://bdsrafoundation.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://uts.nlm.nih.gov/uts/umls/concept/C0022340","Source__c":"C0022340","Xref__c":"C0022340"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=9589","Source__c":"C0022340","Xref__c":"MEDGEN:9589"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=14637005","Source__c":"C0022340; MONDO:0015674","Xref__c":"14637005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015674","Source__c":"GARD:0017032","Xref__c":"MONDO:0015674"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022435","Xref__c":"423022435"}],"tags":{"Cause":["Genetics","Lysosomal"],"Disease Category":["Genetics","Lysosomal"],"Specialist":["Genetics"],"Account":["Lysosomal"]},"synonyms":["amaurotic idiocy early juvenile type"," amaurotic idiocy late infantile type"," amaurotic idiocy, early juvenile type"," amaurotic idiocy, late infantile type"," bielschowsky-jansky disease"," bielschowsky-jansky type neuronal ceroid lipofuscinosis"," dollinger-bielschowsky syndrome"," dollinger-bielschowsky type neuronal ceroid lipofuscinosis"," jansky-bielschowsky disease"," late infantile ncl"," late infantile neuronal ceroid lipofuscinosis"," lincl"]}