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Disease association ontology term - MONDO:0005027 - epilepsy

Term summary

ID
MONDO:0005027
Name
epilepsy
Ontology or CV name
Disease association
Definition
A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.

Parents

Annotation

Disease association

MONDO:0005027 - epilepsy

References:

Genes:

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:0979238 - developmental and epileptic encephalopathy 118

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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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Genes:

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

References:

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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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Genes:

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:0015005 - epilepsy, early-onset, vitamin B6-dependent

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MONDO:0013322 - epilepsy, familial adult myoclonic, 3

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MONDO:0054846 - epilepsy, familial adult myoclonic, 6

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MONDO:0024556 - epilepsy, familial focal, with variable foci 1

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MONDO:0014924 - epilepsy, familial focal, with variable foci 2

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MONDO:0014925 - epilepsy, familial focal, with variable foci 3

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MONDO:0005384 - focal epilepsy

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MONDO:0014517 - generalized epilepsy with febrile seizures plus, type 9

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MONDO:0018097 - infantile spasms

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MONDO:0044319 - intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies

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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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MONDO:0958231 - neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism

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MONDO:0013526 - progressive myoclonic epilepsy type 6

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MONDO:0020074 - progressive myoclonus epilepsy

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MONDO:0012407 - pyridoxal phosphate-responsive seizures

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MONDO:0018614 - undetermined early-onset epileptic encephalopathy

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