Search results for Stiripentol

99 hits were found for Stiripentol

# Family MCID Name MIFTS Score
1
DRV001 Dravet Syndrome 69 21.311
2
P EPL164 Epilepsy 68 14.511
3
ERL001 Early Myoclonic Encephalopathy 62 11.440
4
P SZR006 Seizure Disorder 70 10.864
5
STT001 Status Epilepticus 59 9.125
6
P ENC018 Encephalopathy 62 7.527
7
FCL014 Focal Epilepsy 53 7.144
8
P PRM002 Primary Hyperoxaluria 65 5.693
9
LNN001 Lennox-Gastaut Syndrome 61 5.170
10
ATX038 Ataxia and Polyneuropathy, Adult-Onset 46 4.765
11
c MYC068 Myoclonic Epilepsy of Infancy 34 4.745
12
SCN067 Scn1a Seizure Disorders 12 4.705
13
ETH012 Ethylene Glycol Poisoning 29 3.760
14
ANT039 Antisynthetase Syndrome 55 3.648
15
P MYC026 Myoclonus Epilepsy 35 3.648
16
END086 End Stage Renal Disease 52 3.531
17
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 3.458
18
c ACT071 Acute Kidney Failure 60 3.369
19
WST001 West Syndrome 59 3.153
20
P EXN002 Exanthem 58 3.102
21
NPH009 Nephrolithiasis 54 2.903
22
VSL002 Visual Epilepsy 39 2.657
23
P TBR001 Tuberous Sclerosis 69 2.605
24
P FBR031 Febrile Seizures 52 2.433
25
P TRM003 Tremor 48 2.382
26
P BLY001 B-Lymphoblastic Leukemia/lymphoma 52 2.259
27
HRT012 Heart Valve Disease 53 2.259
28
NSP002 Nasopharyngitis 45 2.259
29
c PLM164 Pulmonary Hypertension, Primary, 1 76 2.125
30
c HYP794 Hyperoxaluria, Primary, Type I 63 2.125
31
c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 70 2.076
32
AND005 Androgen Insensitivity Syndrome, Mild 21 2.076
33
NNL005 Non-Alcoholic Fatty Liver Disease 63 1.977
34
CHL154 Childhood-Onset Epilepsy Syndrome 6 1.977
36
CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 57 1.808
37
SZR026 Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance 57 1.677
38
P MYC033 Myoclonus 47 1.662
39
c INF185 Infantile Epilepsy Syndrome 29 1.609
40
ATS010 Autosomal Recessive Disease 42 1.609
41
c DVL042 Developmental and Epileptic Encephalopathy 14 50 1.609
42
MLG120 Malignant Migrating Partial Seizures of Infancy 43 1.609
43
EPL230 Epilepsy with Myoclonic-Atonic Seizures 23 1.538
44
P DVL113 Developmental and Epileptic Encephalopathy 43 1.404
45
P EPL140 Epilepsy, Idiopathic Generalized 62 1.349
46
P THR014 Thrombocytopenia 66 1.349
47
P ERL057 Early Infantile Epileptic Encephalopathy 60 1.088
48
OHT001 Ohtahara Syndrome 38 1.088
49
c MJR022 Major Affective Disorder 8 38 0.888
50
c ATS007 Autism Spectrum Disorder 72 0.888
51
c MJR024 Major Affective Disorder 9 41 0.888
52
ACR012 Aicardi Syndrome 45 0.888
53
P STR020 Strabismus 56 0.888
54
P ATT013 Attention Deficit-Hyperactivity Disorder 64 0.888
55
MCH006 Mechanical Strabismus 40 0.888
56
P BPL003 Bipolar Disorder 56 0.888
57
P MCR010 Microcephaly 60 0.888
58
P DRR001 Diarrhea 55 0.888
59
P HYP265 Hypotonia 42 0.888
60
AGN016 Aging 54 0.672
61
CHL079 Children's Interstitial Lung Disease 26 0.672
62
PPL061 Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome 26 0.672
63
MLT161 Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly 55 0.628
64
c RRP028 Rare Epilepsy 17 0.628
65
P RTT002 Rett Syndrome 79 0.628
66
CRD223 Cardiac Arrhythmia 63 0.628
67
ANN002 Anencephaly 57 0.628
68
CLF027 Cleft Palate, Isolated 64 0.628
69
c MGR028 Migraine with or Without Aura 1 64 0.628
70
PYR012 Pyruvate Dehydrogenase E1-Beta Deficiency 41 0.628
71
CYN002 Cyanosis, Transient Neonatal 43 0.628
72
P GNR002 Generalized Epilepsy with Febrile Seizures Plus 60 0.628
73
P EPL198 Epilepsy, Myoclonic Juvenile 61 0.628
74
EPL118 Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation 67 0.628
75
TRG002 Trigeminal Neuralgia 61 0.628
76
OCL069 Ocular Motor Apraxia 57 0.628
77
c TBR025 Tuberous Sclerosis 1 84 0.628
78
P ANG001 Angelman Syndrome 65 0.628
79
c DVL034 Developmental and Epileptic Encephalopathy 3 44 0.628
80
P LKD001 Leukodystrophy 59 0.628
81
PRT037 Pertussis 65 0.628
82
P ATS011 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 48 0.628
83
CLF001 Cleft Lip 53 0.628
84
LRN003 Learning Disability 49 0.628
85
CNT015 Central Sleep Apnea 46 0.628
86
CHR074 Choriocarcinoma 46 0.628
87
P MVM001 Movement Disease 61 0.628
88
P AGN002 Agnosia 54 0.628
89
FBR047 Fibromyalgia 58 0.628
90
LND001 Landau-Kleffner Syndrome 51 0.628
91
P HYP040 Hypospadias 51 0.628
92
EPL001 Epilepsy with Generalized Tonic-Clonic Seizures 40 0.628
93
P TMP001 Temporal Lobe Epilepsy 49 0.628
94
PLC006 Placental Choriocarcinoma 38 0.628
96
ATN005 Autonomic Dysfunction 46 0.628
97
GNT046 Genetic Epilepsy with Febrile Seizures Plus 29 0.628
98
FTL007 Fetal Hydantoin Syndrome 32 0.628
99
PYR016 Pyridoxine Deficiency 29 0.628
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