{"Name":"CDKL5 disorder","DiseaseID__c":"GARD:0026021","id":26021,"encodedName":"cdkl5-disorder","IsDeleted":false,"Disease_Name_Full__c":"CDKL5 disorder","Xref_IDs__c":"423022133; CN296942; MEDGEN:979148; MONDO:0100039","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":2,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":2,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0100039","Disease_Description__c":"A monogenic disease that has material basis in mutation in the CDKL5 gene.","GARD_Name__c":"CDKL5 disorder","GARD_Synonym__c":"cdkl5 deficiency disorder; cdkl5 inherited genetic disease; inherited genetic disease caused by mutation in cdkl5","Curated_Disease_Description_Source__c":"MONDO:0100039","Curated_Disease_Description__c":"A monogenic disease that has material basis in mutation in the CDKL5 gene.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0100039","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 monogenic disease that has material basis in mutation in the CDKL5 gene.","Curated_Disease_Description_Source__c":"MONDO:0100039","GARD_Synonym__c":"cdkl5 deficiency disorder; cdkl5 inherited genetic disease; inherited genetic disease caused by mutation in cdkl5","Name":"CDKL5 disorder","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"CDKL5 UK","Website__c":"https://curecdkl5.org.uk/"},{"Account_Name__c":"International Foundation for CDKL5 Research","Website__c":"https://www.cdkl5.com/"}],"External_Identifier_Disease__c":[{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0100039","Source__c":"GARD:0026021","Xref__c":"MONDO:0100039"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=979148","Source__c":"CN296942","Xref__c":"MEDGEN:979148"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/CN296942","Source__c":"CN296942","Xref__c":"CN296942"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK602610","Source__c":"Gene Review","Xref__c":"NBK602610"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022133","Xref__c":"423022133"},{"URL__c":"https://medlineplus.gov/genetics/condition/cdkl5-deficiency-disorder"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CDKL5","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cdkl5","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"tags":{},"synonyms":["cdkl5 deficiency disorder"," cdkl5 inherited genetic disease"," inherited genetic disease caused by mutation in cdkl5"]}