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Disease association ontology term - MONDO:0100062 - genetic developmental and epileptic encephalopathy

Term summary

ID
MONDO:0100062
Name
genetic developmental and epileptic encephalopathy
Ontology or CV name
Disease association
Definition
A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity.

Parents

Annotation

Disease association

MONDO:0030881 - developmental and epileptic encephalopathy 102

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MONDO:0031021 - developmental and epileptic encephalopathy 104

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MONDO:0031028 - developmental and epileptic encephalopathy 105 with hypopituitarism

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MONDO:0031055 - developmental and epileptic encephalopathy 107

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MONDO:0859325 - developmental and epileptic encephalopathy 109

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MONDO:0957780 - developmental and epileptic encephalopathy 111

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MONDO:0958330 - developmental and epileptic encephalopathy 113

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MONDO:0968946 - developmental and epileptic encephalopathy 115

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MONDO:0970945 - developmental and epileptic encephalopathy 116

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MONDO:0020630 - developmental and epileptic encephalopathy 91

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MONDO:0020632 - developmental and epileptic encephalopathy 93

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MONDO:0014150 - developmental and epileptic encephalopathy 94

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MONDO:0023659 - developmental and epileptic encephalopathy 96

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MONDO:0013389 - developmental and epileptic encephalopathy, 12

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MONDO:0014199 - developmental and epileptic encephalopathy, 17

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MONDO:0014392 - developmental and epileptic encephalopathy, 25

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MONDO:0014593 - developmental and epileptic encephalopathy, 29

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MONDO:0012245 - developmental and epileptic encephalopathy, 3

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MONDO:0014598 - developmental and epileptic encephalopathy, 31A

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MONDO:0957248 - developmental and epileptic encephalopathy, 31B

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MONDO:0014625 - developmental and epileptic encephalopathy, 33

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MONDO:0014719 - developmental and epileptic encephalopathy, 35

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MONDO:0010472 - developmental and epileptic encephalopathy, 36

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MONDO:0014868 - developmental and epileptic encephalopathy, 38

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MONDO:0012812 - developmental and epileptic encephalopathy, 4

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MONDO:0014895 - developmental and epileptic encephalopathy, 40

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MONDO:0014933 - developmental and epileptic encephalopathy, 44

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MONDO:0015000 - developmental and epileptic encephalopathy, 48

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MONDO:0014647 - developmental and epileptic encephalopathy, 50

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MONDO:0015025 - developmental and epileptic encephalopathy, 51

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MONDO:0033362 - developmental and epileptic encephalopathy, 53

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MONDO:0033364 - developmental and epileptic encephalopathy, 55

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MONDO:0033365 - developmental and epileptic encephalopathy, 56

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MONDO:0029138 - developmental and epileptic encephalopathy, 67

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MONDO:0034106 - developmental and epileptic encephalopathy, 73

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MONDO:0032752 - developmental and epileptic encephalopathy, 75

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MONDO:0032768 - developmental and epileptic encephalopathy, 76

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MONDO:0032808 - developmental and epileptic encephalopathy, 77

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MONDO:0032822 - developmental and epileptic encephalopathy, 80

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MONDO:0032858 - developmental and epileptic encephalopathy, 81

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MONDO:0032880 - developmental and epileptic encephalopathy, 82

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MONDO:0032895 - developmental and epileptic encephalopathy, 83

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MONDO:0026771 - developmental and epileptic encephalopathy, 85, with or without midline brain defects

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MONDO:0030059 - developmental and epileptic encephalopathy, 87

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MONDO:0016532 - Lennox-Gastaut syndrome

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MONDO:0013254 - microcephaly, seizures, and developmental delay

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MONDO:0010466 - multiple congenital anomalies-hypotonia-seizures syndrome 2

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