{"Name":"Congenital neuronal ceroid lipofuscinosis","DiseaseID__c":"GARD:0017031","id":17031,"encodedName":"congenital-neuronal-ceroid-lipofuscinosis","IsDeleted":false,"Disease_Name_Full__c":"Congenital neuronal ceroid lipofuscinosis","Xref_IDs__c":"C1864670; MEDGEN:351189; MONDO:0850001","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":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0850001","Disease_Description__c":"Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy.","GARD_Name__c":"Congenital neuronal ceroid lipofuscinosis","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"ORPHA:168486","Curated_Disease_Description__c":"Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:168486","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0850001","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":"Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy.","Curated_Disease_Description_Source__c":"ORPHA:168486","Name":"Congenital 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://www.ncbi.nlm.nih.gov/medgen/?term=351189","Source__c":"C1864670","Xref__c":"MEDGEN:351189"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1864670","Source__c":"C1864670","Xref__c":"C1864670"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0850001","Source__c":"GARD:0017031","Xref__c":"MONDO:0850001"}],"tags":{"Cause":["Genetics","Lysosomal"],"Disease Category":["Genetics","Lysosomal"],"Specialist":["Genetics"],"Account":["Lysosomal"]},"synonyms":[""]}