{"Name":"Adult neuronal ceroid lipofuscinosis","DiseaseID__c":"GARD:0010973","id":10973,"encodedName":"adult-neuronal-ceroid-lipofuscinosis","IsDeleted":false,"Disease_Name_Full__c":"Adult neuronal ceroid lipofuscinosis","Xref_IDs__c":"423022790; 62009002; C0022797; MEDGEN:7230; MONDO:0019260","USA_Estimate__c":null,"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":null,"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:0019260","Disease_Description__c":"A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration.","GARD_Name__c":"Adult neuronal ceroid lipofuscinosis","GARD_Synonym__c":"adult ncl; adult-type amaurotic idiocy; amaurotic idiocy adult type; amaurotic idiocy late familial; ancl; kufs disease; kufs type neuronal ceroid lipofuscinosis; kufs' disease; late familial amaurotic idiocy; neuronal ceroid lipofuscinosis of adults","Curated_Disease_Description_Source__c":"GARD:0010973","Curated_Disease_Description__c":"A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:79262","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019260","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":"A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration.","Curated_Disease_Description_Source__c":"GARD:0010973","GARD_Synonym__c":"adult ncl; adult-type amaurotic idiocy; amaurotic idiocy adult type; amaurotic idiocy late familial; ancl; kufs disease; kufs type neuronal ceroid lipofuscinosis; kufs' disease; late familial amaurotic idiocy; neuronal ceroid lipofuscinosis of adults","Name":"Adult neuronal ceroid lipofuscinosis","estimateUsa":""}],"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"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0022797"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=62009002","Source__c":"C0022797; MONDO:0019260","Xref__c":"62009002"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0022797","Source__c":"C0022797","Xref__c":"C0022797"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=7230","Source__c":"C0022797","Xref__c":"MEDGEN:7230"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019260","Source__c":"GARD:0010973","Xref__c":"MONDO:0019260"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022790","Xref__c":"423022790"}],"tags":{"Cause":["Genetics","Lysosomal"],"Disease Category":["Genetics","Lysosomal"],"Specialist":["Genetics"],"Account":["Lysosomal"]},"synonyms":["adult ncl"," adult-type amaurotic idiocy"," amaurotic idiocy adult type"," amaurotic idiocy late familial"," ancl"," kufs disease"," kufs type neuronal ceroid lipofuscinosis"," kufs' disease"," late familial amaurotic idiocy"," neuronal ceroid lipofuscinosis of adults"]}