{"Name":"Intermediate DEND syndrome","DiseaseID__c":"GARD:0019724","id":19724,"encodedName":"intermediate-dend-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Intermediate DEND syndrome","Xref_IDs__c":"1303868000; C5680423; MEDGEN:1843317; MONDO:0020569; ORPHA:99989","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0020569","Disease_Description__c":"A rare genetic neonatal diabetes mellitus syndrome characterized by neonatal insulin-dependent diabetes mellitus, mild motor, speech or cognitive delay, and absence of epilepsy. Is it a less severe form of DEND syndrome.","GARD_Name__c":"Intermediate DEND syndrome","GARD_Synonym__c":"developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form; developmental delay, epilepsy, neonatal diabetes syndrome, intermediate form; intermediate dend (developmental delay, epilepsy, neonatal diabetes) syndrome","Curated_Disease_Description_Source__c":"ORPHA:99989","Curated_Disease_Description__c":"A rare, genetic, neonatal diabetes mellitus syndrome, that is a variant of DEND syndrome and is characterized clinically by neonatal insulin-dependent diabetes mellitus, mild motor, speech or cognitive delay, and absence of epilepsy.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:99989","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0020569","ORPHANET_ID__c":"ORPHA:99989","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome intermedio dend","Spanish_Description_Source__c":"ORPHA:99989","Spanish_Description__c":"Es un síndrome de diabetes mellitus neonatal, de origen genético y poco frecuente. Es una variante del síndrome DEND caracterizada clínicamente por diabetes mellitus neonatal insulinodependiente, leve retraso motor, del habla o cognitivo y ausencia de epilepsia.","Spanish_Disease_Name__c":"síndrome intermedio dend","Spanish_GARD_Synonym__c":"síndrome de retraso del crecimiento-epilepsia-diabetes neonatal, forma intermedia","Category_Linearization__c":"ORPHA:97978","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 rare, genetic, neonatal diabetes mellitus syndrome, that is a variant of DEND syndrome and is characterized clinically by neonatal insulin-dependent diabetes mellitus, mild motor, speech or cognitive delay, and absence of epilepsy.","Curated_Disease_Description_Source__c":"ORPHA:99989","GARD_Synonym__c":"developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form; developmental delay, epilepsy, neonatal diabetes syndrome, intermediate form; intermediate dend (developmental delay, epilepsy, neonatal diabetes) syndrome","Name":"Intermediate DEND syndrome","estimateUsa":""}],"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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"},{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:99989"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:99989"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/99989","Source__c":"C5680423; MONDO:0020569; ORPHA:99989","Xref__c":"ORPHA:99989"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5680423","Source__c":"C5680423","Xref__c":"C5680423"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1843317","Source__c":"C5680423","Xref__c":"MEDGEN:1843317"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1303868000","Source__c":"C5680423","Xref__c":"1303868000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020569","Source__c":"GARD:0019724","Xref__c":"MONDO:0020569"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KCNJ11","GHR_URL__c":"https://medlineplus.gov/genetics/gene/kcnj11","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Endocrine"],"Specialist":["Genetics","Neurology","Endocrine","Epilepsy","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form"," developmental delay, epilepsy, neonatal diabetes syndrome, intermediate form"," intermediate dend (developmental delay, epilepsy, neonatal diabetes) syndrome"]}