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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
absence epilepsy +   
developmental and epileptic encephalopathy +   
An electroclinical syndrome characterized by epileptiform activity and at least one other pathology that together contribute to cognitive and behavioral impairments including developmental delay or regression with onset anywhere from birth to adulthood. (DO)
infancy electroclinical syndrome +   
neonatal period electroclinical syndrome +   
variable age at onset electroclinical syndrome +   
 congenital disorder of glycosylation type IIm  
 developmental and epileptic encephalopathy 1  
 developmental and epileptic encephalopathy 100  
 developmental and epileptic encephalopathy 101  
 developmental and epileptic encephalopathy 102  
 developmental and epileptic encephalopathy 103  
 developmental and epileptic encephalopathy 104  
 developmental and epileptic encephalopathy 105  
 developmental and epileptic encephalopathy 106  
 developmental and epileptic encephalopathy 107  
 developmental and epileptic encephalopathy 108  
 developmental and epileptic encephalopathy 109  
 developmental and epileptic encephalopathy 11  
 developmental and epileptic encephalopathy 110  
 Developmental and Epileptic Encephalopathy 111  
 Developmental and Epileptic Encephalopathy 112  
 Developmental and Epileptic Encephalopathy 113  
 Developmental and Epileptic Encephalopathy 114  
 Developmental and Epileptic Encephalopathy 115  
 developmental and epileptic encephalopathy 116  
 developmental and epileptic encephalopathy 12  
 developmental and epileptic encephalopathy 13  
 developmental and epileptic encephalopathy 14  
 developmental and epileptic encephalopathy 15  
 developmental and epileptic encephalopathy 16  
 developmental and epileptic encephalopathy 17  
 developmental and epileptic encephalopathy 18  
 developmental and epileptic encephalopathy 19  
 developmental and epileptic encephalopathy 2  
 developmental and epileptic encephalopathy 21  
 developmental and epileptic encephalopathy 23  
 developmental and epileptic encephalopathy 24  
 developmental and epileptic encephalopathy 25  
 developmental and epileptic encephalopathy 26  
 developmental and epileptic encephalopathy 27  
 developmental and epileptic encephalopathy 28  
 developmental and epileptic encephalopathy 29  
 developmental and epileptic encephalopathy 3  
 developmental and epileptic encephalopathy 30  
 developmental and epileptic encephalopathy 31A  
 developmental and epileptic encephalopathy 31B  
 developmental and epileptic encephalopathy 32  
 developmental and epileptic encephalopathy 33  
 developmental and epileptic encephalopathy 34  
 developmental and epileptic encephalopathy 35  
 developmental and epileptic encephalopathy 36  
 developmental and epileptic encephalopathy 37  
 developmental and epileptic encephalopathy 38  
 developmental and epileptic encephalopathy 39  
 developmental and epileptic encephalopathy 4  
 developmental and epileptic encephalopathy 40  
 developmental and epileptic encephalopathy 41  
 developmental and epileptic encephalopathy 42  
 developmental and epileptic encephalopathy 43  
 developmental and epileptic encephalopathy 44  
 developmental and epileptic encephalopathy 45  
 developmental and epileptic encephalopathy 46  
 developmental and epileptic encephalopathy 47  
 developmental and epileptic encephalopathy 48  
 developmental and epileptic encephalopathy 49  
 developmental and epileptic encephalopathy 5  
 developmental and epileptic encephalopathy 50  
 developmental and epileptic encephalopathy 51  
 developmental and epileptic encephalopathy 52  
 developmental and epileptic encephalopathy 53  
 developmental and epileptic encephalopathy 54  
 developmental and epileptic encephalopathy 55  
 developmental and epileptic encephalopathy 56  
 developmental and epileptic encephalopathy 57  
 developmental and epileptic encephalopathy 58  
 developmental and epileptic encephalopathy 59  
 developmental and epileptic encephalopathy 60  
 developmental and epileptic encephalopathy 61  
 developmental and epileptic encephalopathy 62  
 developmental and epileptic encephalopathy 63  
 developmental and epileptic encephalopathy 64  
 developmental and epileptic encephalopathy 65  
 developmental and epileptic encephalopathy 66  
 developmental and epileptic encephalopathy 67  
 developmental and epileptic encephalopathy 68  
 developmental and epileptic encephalopathy 69  
 developmental and epileptic encephalopathy 6B  
 developmental and epileptic encephalopathy 7  
 developmental and epileptic encephalopathy 70  
 developmental and epileptic encephalopathy 71  
 developmental and epileptic encephalopathy 72  
 developmental and epileptic encephalopathy 73  
 developmental and epileptic encephalopathy 74  
 developmental and epileptic encephalopathy 75  
 developmental and epileptic encephalopathy 76  
 developmental and epileptic encephalopathy 78  
 developmental and epileptic encephalopathy 79  
 developmental and epileptic encephalopathy 8  
 developmental and epileptic encephalopathy 80  
 developmental and epileptic encephalopathy 81  
 developmental and epileptic encephalopathy 82  
 developmental and epileptic encephalopathy 83  
 developmental and epileptic encephalopathy 84  
 developmental and epileptic encephalopathy 85  
 developmental and epileptic encephalopathy 86  
 developmental and epileptic encephalopathy 87  
 developmental and epileptic encephalopathy 88  
 developmental and epileptic encephalopathy 89  
 developmental and epileptic encephalopathy 9  
 developmental and epileptic encephalopathy 90  
 developmental and epileptic encephalopathy 91  
 developmental and epileptic encephalopathy 92  
 developmental and epileptic encephalopathy 93  
 developmental and epileptic encephalopathy 94  
 developmental and epileptic encephalopathy 95  
 developmental and epileptic encephalopathy 96  
 developmental and epileptic encephalopathy 97  
 developmental and epileptic encephalopathy 98  
 developmental and epileptic encephalopathy 99  
 Dravet syndrome  
 microcephaly, seizures, and developmental delay  
 multiple congenital anomalies-hypotonia-seizures syndrome 2  
 multiple congenital anomalies-hypotonia-seizures syndrome 4  

Synonyms
Narrow Synonyms: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY WITH JOINT LAXITY ;   KCNA3-ASSOCIATED DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY ;   RYR3-RELATED EPILEPTIC ENCEPHALOPATHY
Broad Synonyms: RYR3-RELATED CONDITION ;   TMEM63B-ASSOCIATED DISORDER
Xrefs: MIM:PS308350
Definition Sources: PMID:28276062 "DO" "DO", PMID:31926847 "DO" "DO"

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