{"Name":"Infantile neuronal ceroid lipofuscinosis","DiseaseID__c":"GARD:0009447","id":9447,"encodedName":"infantile-neuronal-ceroid-lipofuscinosis","IsDeleted":false,"Disease_Name_Full__c":"Infantile neuronal ceroid lipofuscinosis","Xref_IDs__c":"423022425; 58258004; C0268281; MEDGEN:75666; MONDO:0019261","USA_Estimate__c":"1,000","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":"1 to 8,000","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:0019261","Disease_Description__c":"A form of neuronal ceroid lipofuscinosis (NCL) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities.","GARD_Name__c":"Infantile neuronal ceroid lipofuscinosis","GARD_Synonym__c":"classic infantile cln1 disease; hagberg-santavouri type neuronal ceroid lipofuscinosis; hagberg-santavuori disease; haltia-santavouri type neuronal ceroid lipofuscinosis; incl; infantile ncl; polyunsaturated acid lipidosis; polyunsaturated fatty acid lipidosis; santavuori disease; santavuori-haltia disease","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Infantile neuronal ceroid lipofuscinosis (INCL) is a rare disease that affects the brain. It usually starts when babies are around 6 months old and causes them to quickly lose their ability to move and think. This means they won't be able to do things like crawl, walk, or talk.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:79263","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019261","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":"Infantile neuronal ceroid lipofuscinosis (INCL) is a rare disease that affects the brain. It usually starts when babies are around 6 months old and causes them to quickly lose their ability to move and think. This means they won't be able to do things like crawl, walk, or talk.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"classic infantile cln1 disease; hagberg-santavouri type neuronal ceroid lipofuscinosis; hagberg-santavuori disease; haltia-santavouri type neuronal ceroid lipofuscinosis; incl; infantile ncl; polyunsaturated acid lipidosis; polyunsaturated fatty acid lipidosis; santavuori disease; santavuori-haltia disease","Name":"Infantile neuronal ceroid lipofuscinosis","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"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=58258004","Source__c":"C0268281; MONDO:0019261","Xref__c":"58258004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=75666","Source__c":"C0268281","Xref__c":"MEDGEN:75666"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268281","Source__c":"C0268281","Xref__c":"C0268281"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019261","Source__c":"GARD:0009447","Xref__c":"MONDO:0019261"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022425","Xref__c":"423022425"}],"tags":{"Cause":["Genetics","Lysosomal"],"Disease Category":["Genetics","Lysosomal"],"Specialist":["Genetics"],"Account":["Lysosomal"]},"synonyms":["classic infantile cln1 disease"," hagberg-santavouri type neuronal ceroid lipofuscinosis"," hagberg-santavuori disease"," haltia-santavouri type neuronal ceroid lipofuscinosis"," incl"," infantile ncl"," polyunsaturated acid lipidosis"," polyunsaturated fatty acid lipidosis"," santavuori disease"," santavuori-haltia disease"]}