Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | AASS CL E G H | 10157 | 17366 | ORPHA:2203 | Hyperlysinemia | | | | 15 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | ABHD16A CL E G H | 7920 | 13921 | OMIM:619735 | SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86 | | | | | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | ACADM CL E G H | 34 | 89 | ORPHA:42 | Medium chain acyl-CoA dehydrogenase deficiency | HP:0040283 - Occasional | | | 197 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | ADGRV1 CL E G H | 84059 | 17416 | OMIM:604352 | Febrile seizures, familial, 4 | . | | | 530 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | ADGRV1 CL E G H | 84059 | 17416 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | HP:0040282 - Frequent | | | 530 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | ADORA2A CL E G H | 135 | 263 | ORPHA:363549 | Acute encephalopathy with biphasic seizures and late reduced diffusion | | | | 1 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | ALDH4A1 CL E G H | 8659 | 406 | ORPHA:79101 | Hyperprolinemia type 2 | HP:0040283 - Occasional | | | 74 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | AP2M1 CL E G H | 1173 | 564 | ORPHA:1942 | Myoclonic-astatic epilepsy | | | | | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | AP4S1 CL E G H | 11154 | 575 | OMIM:614067 | Spastic paraplegia 52, autosomal recessive | HP:0040283 - Occasional | | | 18 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | APP CL E G H | 351 | 620 | ORPHA:324723 | ABeta amyloidosis, Arctic type | HP:0040281 - Very frequent | | | 74 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | ARX CL E G H | 170302 | 18060 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 166 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | ASXL2 CL E G H | 55252 | 23805 | OMIM:617190 | Shashi-Pena syndrome | | | | 7 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:569 | Familial or sporadic hemiplegic migraine | | | | 239 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | AUH CL E G H | 549 | 890 | OMIM:250950 | 3-methylglutaconic aciduria, type I | . | | | 49 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:569 | Familial or sporadic hemiplegic migraine | | | | 449 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | CACNA1H CL E G H | 8912 | 1395 | ORPHA:64280 | Childhood absence epilepsy | HP:0040283 - Occasional | | | 75 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | CACNB4 CL E G H | 785 | 1404 | OMIM:607682 | Epilepsy, idiopathic generalized, susceptibility to, 9 | | | | 146 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | CACNB4 CL E G H | 785 | 1404 | OMIM:613855 | Episodic ataxia, type 5 | | | | 146 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | CACNB4 CL E G H | 785 | 1404 | ORPHA:307 | Juvenile myoclonic epilepsy | HP:0040283 - Occasional | | | 146 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | CAMK2A CL E G H | 815 | 1460 | OMIM:617798 | Mental retardation, autosomal dominant 53 | | | | 1 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | CASK CL E G H | 8573 | 1497 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 118 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 405 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | CEP85L CL E G H | 387119 | 21638 | OMIM:618873 | LISSENCEPHALY 10; LIS10 | | | | 1 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | CHD2 CL E G H | 1106 | 1917 | OMIM:615369 | EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET; EEOC | | | | 227 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | CHD2 CL E G H | 1106 | 1917 | ORPHA:1942 | Myoclonic-astatic epilepsy | | | | 227 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | CILK1 CL E G H | 22858 | 21219 | OMIM:617924 | Epilepsy, juvenile myoclonic, susceptibility to, 10 | . | | | | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | CILK1 CL E G H | 22858 | 21219 | ORPHA:307 | Juvenile myoclonic epilepsy | HP:0040283 - Occasional | | | | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | CLCN2 CL E G H | 1181 | 2020 | ORPHA:307 | Juvenile myoclonic epilepsy | HP:0040283 - Occasional | | | 44 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | CNKSR2 CL E G H | 22866 | 19701 | OMIM:301008 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG | | | | 18 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | COG4 CL E G H | 25839 | 18620 | ORPHA:263501 | COG4-CDG | | | | 67 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | CPA6 CL E G H | 57094 | 17245 | OMIM:614418 | FEBRILE SEIZURES, FAMILIAL, 11; FEB11 | | | | 49 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:352582 | Familial infantile myoclonic epilepsy | | | | 1 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | DEPDC5 CL E G H | 9681 | 18423 | ORPHA:98820 | Familial focal epilepsy with variable foci | | | | 172 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | DMXL2 CL E G H | 23312 | 2938 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 3 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | DNMT3A CL E G H | 1788 | 2978 | OMIM:615879 | Tatton-Brown-Rahman syndrome | | | | 44 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | DPYD CL E G H | 1806 | 3012 | ORPHA:1675 | Dihydropyrimidine dehydrogenase deficiency | HP:0040283 - Occasional | | | 144 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | DTYMK CL E G H | 1841 | 3061 | OMIM:619847 | | | | | | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:268261 | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | HP:0040283 - Occasional | | | 134 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:464311 | Intellectual disability syndrome due to a DYRK1A point mutation | | | | 134 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | DYRK1A CL E G H | 1859 | 3091 | OMIM:614104 | Mental retardation, autosomal dominant 7 | . | | | 134 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | EFHC1 CL E G H | 114327 | 16406 | ORPHA:1941 | Juvenile absence epilepsy | HP:0040283 - Occasional | | | 153 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | EFHC1 CL E G H | 114327 | 16406 | ORPHA:307 | Juvenile myoclonic epilepsy | HP:0040283 - Occasional | | | 153 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | EMC10 CL E G H | 284361 | 27609 | OMIM:619264 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS | | | | | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | ERLIN2 CL E G H | 11160 | 1356 | ORPHA:280384 | Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome | HP:0040282 - Frequent | | | 18 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | FAR1 CL E G H | 84188 | 26222 | OMIM:619338 | CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD | | | | 7 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | FBXO28 CL E G H | 23219 | 29046 | OMIM:619777 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100 | | | | | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | GABRA1 CL E G H | 2554 | 4075 | ORPHA:64280 | Childhood absence epilepsy | HP:0040283 - Occasional | | | 134 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | GABRA1 CL E G H | 2554 | 4075 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 134 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | GABRA1 CL E G H | 2554 | 4075 | OMIM:615744 | Epileptic encephalopathy, early infantile, 19 | . | | | 134 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | GABRA1 CL E G H | 2554 | 4075 | ORPHA:307 | Juvenile myoclonic epilepsy | HP:0040283 - Occasional | | | 134 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | GABRB3 CL E G H | 2562 | 4083 | ORPHA:64280 | Childhood absence epilepsy | HP:0040283 - Occasional | | | 57 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | GABRD CL E G H | 2563 | 4084 | OMIM:613060 | Epilepsy, idiopathic generalized, 10 | . | HP:0003593 - Infantile onset | | 10 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | GABRD CL E G H | 2563 | 4084 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | HP:0040282 - Frequent | | | 10 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | GABRD CL E G H | 2563 | 4084 | ORPHA:307 | Juvenile myoclonic epilepsy | HP:0040283 - Occasional | | | 10 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:64280 | Childhood absence epilepsy | HP:0040283 - Occasional | | | 139 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 139 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | GABRG2 CL E G H | 2566 | 4087 | OMIM:607681 | Febrile seizures, familial, 8 | . | | | 139 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | HP:0040282 - Frequent | | | 139 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:1945 | Rolandic epilepsy | HP:0040283 - Occasional | | | 139 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | GALC CL E G H | 2581 | 4115 | ORPHA:206443 | Late-infantile/juvenile Krabbe disease | HP:0040283 - Occasional | | | 160 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | GAMT CL E G H | 2593 | 4136 | OMIM:612736 | Cerebral creatine deficiency syndrome 2 | | | | 91 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | GLS CL E G H | 2744 | 4331 | OMIM:618412 | Global developmental delay, progressive ataxia, and elevated glutamine | . | | | | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | GNAO1 CL E G H | 2775 | 4389 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 36 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | GNB1 CL E G H | 2782 | 4396 | OMIM:616973 | Mental retardation, autosomal dominant 42 | | | | 12 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | GPT2 CL E G H | 84706 | 18062 | ORPHA:477673 | Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | GRIA2 CL E G H | 2891 | 4572 | OMIM:618917 | NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB | | | | 1 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | GRIN1 CL E G H | 2902 | 4584 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:289266 | Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation | HP:0040283 - Occasional | | | 434 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:1945 | Rolandic epilepsy | HP:0040283 - Occasional | | | 434 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | GRM7 CL E G H | 2917 | 4599 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 5 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | HCN1 CL E G H | 348980 | 4845 | OMIM:615871 | Epileptic encephalopathy, early infantile, 24 | . | | | 54 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | HCN1 CL E G H | 348980 | 4845 | OMIM:618482 | Generalized epilepsy with febrile seizures plus, type 10 | . | | | 54 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | HCN1 CL E G H | 348980 | 4845 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | HP:0040282 - Frequent | | | 54 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | HCN2 CL E G H | 610 | 4846 | OMIM:602477 | Febrile seizures, familial, 2 | . | | | 7 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | HERC2 CL E G H | 8924 | 4868 | OMIM:615516 | Mental retardation, autosomal recessive 38 | | | | 38 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | HNRNPR CL E G H | 10236 | 5047 | OMIM:620073 | | | | | | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | HS6ST2 CL E G H | 90161 | 19133 | OMIM:301025 | Paganini-Miozzo syndrome | . | | | | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | JRK CL E G H | 8629 | 6199 | ORPHA:64280 | Childhood absence epilepsy | HP:0040283 - Occasional | | | | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | JRK CL E G H | 8629 | 6199 | ORPHA:307 | Juvenile myoclonic epilepsy | HP:0040283 - Occasional | | | | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | KCNA1 CL E G H | 3736 | 6218 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 145 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | KCNA2 CL E G H | 3737 | 6220 | OMIM:616366 | Epileptic encephalopathy, early infantile, 32 | | | | 13 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | KCNJ6 CL E G H | 3763 | 6267 | OMIM:614098 | Keppen-Lubinsky syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | KCNQ2 CL E G H | 3785 | 6296 | ORPHA:306 | Benign familial infantile epilepsy | | | | 528 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | KCNQ2 CL E G H | 3785 | 6296 | ORPHA:1949 | Benign familial neonatal epilepsy | | | | 528 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | KCNQ2 CL E G H | 3785 | 6296 | OMIM:121200 | Seizures, benign familial neonatal, 1 | HP:0040283 - Occasional | | | 528 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | KCNQ3 CL E G H | 3786 | 6297 | ORPHA:306 | Benign familial infantile epilepsy | | | | 302 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | KCNQ3 CL E G H | 3786 | 6297 | ORPHA:1949 | Benign familial neonatal epilepsy | | | | 302 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | KCNQ3 CL E G H | 3786 | 6297 | ORPHA:307 | Juvenile myoclonic epilepsy | HP:0040283 - Occasional | | | 302 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | KCTD7 CL E G H | 154881 | 21957 | ORPHA:263516 | Progressive myoclonic epilepsy type 3 | HP:0040283 - Occasional | | | 106 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | KMT5B CL E G H | 51111 | 24283 | OMIM:617788 | Mental retardation, autosomal dominant 51 | HP:0040284 - Very rare | | | 2 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | LMNB1 CL E G H | 4001 | 6637 | OMIM:619179 | MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26 | | | | 44 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | MAF CL E G H | 4094 | 6776 | ORPHA:1272 | Aymé-Gripp syndrome | HP:0040283 - Occasional | | | 21 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | MBD5 CL E G H | 55777 | 20444 | OMIM:156200 | Mental retardation, autosomal dominant 1 | . | HP:0003593 - Infantile onset | | 252 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | MBOAT7 CL E G H | 79143 | 15505 | OMIM:617188 | Mental retardation, autosomal recessive 57 | . | | | 5 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | MVK CL E G H | 4598 | 7530 | OMIM:260920 | Hyper-Igd syndrome | | | | 150 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | NEUROD2 CL E G H | 4761 | 7763 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | NEXMIF CL E G H | 340533 | 29433 | ORPHA:1942 | Myoclonic-astatic epilepsy | | | | 52 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | NFIX CL E G H | 4784 | 7788 | ORPHA:447980 | 19p13.3 microduplication syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | NPRL2 CL E G H | 10641 | 24969 | ORPHA:98820 | Familial focal epilepsy with variable foci | | | | 4 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | NPRL3 CL E G H | 8131 | 14124 | ORPHA:98820 | Familial focal epilepsy with variable foci | | | | 7 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | PCDH19 CL E G H | 57526 | 14270 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 225 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | PCDH19 CL E G H | 57526 | 14270 | ORPHA:101039 | Female restricted epilepsy with intellectual disability | HP:0040281 - Very frequent | | | 225 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | PDE2A CL E G H | 5138 | 8777 | ORPHA:31709 | Infantile convulsions and choreoathetosis | | | | | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | PEPD CL E G H | 5184 | 8840 | OMIM:170100 | Prolidase deficiency | | | | 66 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | PIGP CL E G H | 51227 | 3046 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 2 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | PIGQ CL E G H | 9091 | 14135 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 3 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | PNKP CL E G H | 11284 | 9154 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 244 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | POGZ CL E G H | 23126 | 18801 | ORPHA:468678 | White-Sutton syndrome | HP:0040284 - Very rare | | | 35 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:306 | Benign familial infantile epilepsy | | | | 94 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:569 | Familial or sporadic hemiplegic migraine | | | | 94 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:31709 | Infantile convulsions and choreoathetosis | | | | 94 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | PTH1R CL E G H | 5745 | 9608 | OMIM:600002 | Eiken syndrome | | | | 58 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | RNU12 CL E G H | 267010 | 19380 | ORPHA:512260 | Congenital cerebellar ataxia due to RNU12 mutation | HP:0040282 - Frequent | | | | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | RPL10 CL E G H | 6134 | 10298 | OMIM:300998 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35 | | | | 10 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | RPL10 CL E G H | 6134 | 10298 | ORPHA:459070 | X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | RSRC1 CL E G H | 51319 | 24152 | OMIM:618402 | Intellectual developmental disorder, autosomal recessive 70 | . | | | 2 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | SATB2 CL E G H | 23314 | 21637 | OMIM:612313 | Glass syndrome | | | | 34 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 1053 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:569 | Familial or sporadic hemiplegic migraine | | | | 1053 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | SCN1A CL E G H | 6323 | 10585 | OMIM:604403 | Generalized epilepsy with febrile seizures plus, type 2 | . | | | 1053 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | HP:0040282 - Frequent | | | 1053 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:1942 | Myoclonic-astatic epilepsy | | | | 1053 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | SCN1B CL E G H | 6324 | 10586 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 126 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | SCN1B CL E G H | 6324 | 10586 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 126 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | SCN1B CL E G H | 6324 | 10586 | OMIM:617350 | Epileptic encephalopathy, early infantile, 52 | . | | | 126 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | SCN1B CL E G H | 6324 | 10586 | OMIM:604233 | Generalized epilepsy with febrile seizures plus, type 1 | . | | | 126 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | SCN1B CL E G H | 6324 | 10586 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | HP:0040282 - Frequent | | | 126 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | SCN2A CL E G H | 6326 | 10588 | ORPHA:306 | Benign familial infantile epilepsy | | | | 427 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | SCN2A CL E G H | 6326 | 10588 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 427 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | SCN2A CL E G H | 6326 | 10588 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 427 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | SCN2A CL E G H | 6326 | 10588 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | HP:0040282 - Frequent | | | 427 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | SCN3A CL E G H | 6328 | 10590 | OMIM:617935 | Epilepsy, familial focal, with variable foci 4 | | | | 70 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | SCN8A CL E G H | 6334 | 10596 | ORPHA:306 | Benign familial infantile epilepsy | | | | 357 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | SCN8A CL E G H | 6334 | 10596 | OMIM:614558 | Epileptic encephalopathy, early infantile, 13 | | | | 357 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | SCN8A CL E G H | 6334 | 10596 | ORPHA:31709 | Infantile convulsions and choreoathetosis | | | | 357 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | SCN9A CL E G H | 6335 | 10597 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 318 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | SCN9A CL E G H | 6335 | 10597 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | HP:0040282 - Frequent | | | 318 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | SDHB CL E G H | 6390 | 10681 | OMIM:619224 | MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4 | | | | 237 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | SEPSECS CL E G H | 51091 | 30605 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 66 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | SETBP1 CL E G H | 26040 | 15573 | OMIM:616078 | Mental retardation, autosomal dominant 29 | | | | 143 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | SETD5 CL E G H | 55209 | 25566 | ORPHA:404440 | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | HP:0040283 - Occasional | | | 43 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | SIK1 CL E G H | 150094 | 11142 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 11 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | SLC12A5 CL E G H | 57468 | 13818 | OMIM:616685 | Epilepsy, idiopathic generalized, susceptibility to, 14 | HP:0040283 - Occasional | | | 8 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | SLC13A3 CL E G H | 64849 | 14430 | OMIM:618384 | Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate | | | | 2 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | SLC25A12 CL E G H | 8604 | 10982 | OMIM:612949 | Epileptic encephalopathy, early infantile, 39 | | | | 44 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | SLC25A22 CL E G H | 79751 | 19954 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 166 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:64280 | Childhood absence epilepsy | HP:0040283 - Occasional | | | 255 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:1942 | Myoclonic-astatic epilepsy | | | | 255 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | SLC35C1 CL E G H | 55343 | 20197 | OMIM:266265 | Congenital disorder of glycosylation, type IIc | | | | 71 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | SLC44A1 CL E G H | 23446 | 18798 | OMIM:618868 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC | | | | 1 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | SLC6A1 CL E G H | 6529 | 11042 | ORPHA:1942 | Myoclonic-astatic epilepsy | | | | 29 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | SRPX2 CL E G H | 27286 | 30668 | ORPHA:1945 | Rolandic epilepsy | HP:0040283 - Occasional | | | 50 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | STX1B CL E G H | 112755 | 18539 | OMIM:616172 | Generalized epilepsy with febrile seizures plus, type 9 | . | | | 9 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | STX1B CL E G H | 112755 | 18539 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | HP:0040282 - Frequent | | | 9 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | SYNGAP1 CL E G H | 8831 | 11497 | ORPHA:1942 | Myoclonic-astatic epilepsy | | | | 108 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:352582 | Familial infantile myoclonic epilepsy | | | | 271 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:605021 | Myoclonic epilepsy, familial infantile | | | | 271 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | TBCD CL E G H | 6904 | 11581 | ORPHA:496641 | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | HP:0040284 - Very rare | | | 16 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | THUMPD1 CL E G H | 55623 | 23807 | OMIM:619989 | | | | | | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | TRIM8 CL E G H | 81603 | 15579 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 1 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | TRIT1 CL E G H | 54802 | 20286 | OMIM:617873 | Combined oxidative phosphorylation deficiency 35 | | | | 12 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | TRNK CL E G H | 4566 | 7489 | ORPHA:1349 | Mitochondrial DNA-related cardiomyopathy and hearing loss | HP:0040283 - Occasional | | | | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | TSEN15 CL E G H | 116461 | 16791 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 3 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | TSEN2 CL E G H | 80746 | 28422 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 84 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | TSEN34 CL E G H | 79042 | 15506 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 57 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | TSEN54 CL E G H | 283989 | 27561 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 102 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | VPS11 CL E G H | 55823 | 14583 | ORPHA:466934 | VPS11-related autosomal recessive hypomyelinating leukodystrophy | HP:0040282 - Frequent | | | 1 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | WAC CL E G H | 51322 | 17327 | ORPHA:466950 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation | | | | 20 | | |
HP:0002373 | HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | 0 | WDR26 CL E G H | 80232 | 21208 | ORPHA:513456 | Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0002373 | HP:0011171 | Simple febrile seizure | 1 | AASS CL E G H | 10157 | 17366 | ORPHA:2203 | Hyperlysinemia | HP:0040283 - Occasional | | | 15 | | |
HP:0002373 | HP:0011172 | Complex febrile seizure | 1 | ADORA2A CL E G H | 135 | 263 | ORPHA:363549 | Acute encephalopathy with biphasic seizures and late reduced diffusion | HP:0040282 - Frequent | | | 1 | | |
HP:0002373 | HP:0011171 | Simple febrile seizure | 1 | AP2M1 CL E G H | 1173 | 564 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040283 - Occasional | | | | | |
HP:0002373 | HP:0011172 | Complex febrile seizure | 1 | ATP1A2 CL E G H | 477 | 800 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040282 - Frequent | | | 239 | | |
HP:0002373 | HP:0011172 | Complex febrile seizure | 1 | CACNA1A CL E G H | 773 | 1388 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040282 - Frequent | | | 449 | | |
HP:0002373 | HP:0011171 | Simple febrile seizure | 1 | CHD2 CL E G H | 1106 | 1917 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040283 - Occasional | | | 227 | | |
HP:0002373 | HP:0011172 | Complex febrile seizure | 1 | COG4 CL E G H | 25839 | 18620 | ORPHA:263501 | COG4-CDG | HP:0040282 - Frequent | | | 67 | | |
HP:0002373 | HP:0011171 | Simple febrile seizure | 1 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:352582 | Familial infantile myoclonic epilepsy | HP:0040282 - Frequent | | | 1 | | |
HP:0002373 | HP:0011171 | Simple febrile seizure | 1 | DEPDC5 CL E G H | 9681 | 18423 | ORPHA:98820 | Familial focal epilepsy with variable foci | HP:0040284 - Very rare | | | 172 | | |
HP:0002373 | HP:0011171 | Simple febrile seizure | 1 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:464311 | Intellectual disability syndrome due to a DYRK1A point mutation | HP:0040283 - Occasional | | | 134 | | |
HP:0002373 | HP:0011172 | Complex febrile seizure | 1 | FAR1 CL E G H | 84188 | 26222 | OMIM:619338 | CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD | | | | 7 | | |
HP:0002373 | HP:0011172 | Complex febrile seizure | 1 | GABRA1 CL E G H | 2554 | 4075 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 134 | | |
HP:0002373 | HP:0011172 | Complex febrile seizure | 1 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 139 | | |
HP:0002373 | HP:0011171 | Simple febrile seizure | 1 | KCNQ2 CL E G H | 3785 | 6296 | ORPHA:306 | Benign familial infantile epilepsy | HP:0040284 - Very rare | | | 528 | | |
HP:0002373 | HP:0011171 | Simple febrile seizure | 1 | KCNQ2 CL E G H | 3785 | 6296 | ORPHA:1949 | Benign familial neonatal epilepsy | HP:0040283 - Occasional | | | 528 | | |
HP:0002373 | HP:0011171 | Simple febrile seizure | 1 | KCNQ3 CL E G H | 3786 | 6297 | ORPHA:306 | Benign familial infantile epilepsy | HP:0040284 - Very rare | | | 302 | | |
HP:0002373 | HP:0011171 | Simple febrile seizure | 1 | KCNQ3 CL E G H | 3786 | 6297 | ORPHA:1949 | Benign familial neonatal epilepsy | HP:0040283 - Occasional | | | 302 | | |
HP:0002373 | HP:0011171 | Simple febrile seizure | 1 | NEXMIF CL E G H | 340533 | 29433 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040283 - Occasional | | | 52 | | |
HP:0002373 | HP:0011171 | Simple febrile seizure | 1 | NPRL2 CL E G H | 10641 | 24969 | ORPHA:98820 | Familial focal epilepsy with variable foci | HP:0040284 - Very rare | | | 4 | | |
HP:0002373 | HP:0011171 | Simple febrile seizure | 1 | NPRL3 CL E G H | 8131 | 14124 | ORPHA:98820 | Familial focal epilepsy with variable foci | HP:0040284 - Very rare | | | 7 | | |
HP:0002373 | HP:0011172 | Complex febrile seizure | 1 | PCDH19 CL E G H | 57526 | 14270 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 225 | | |
HP:0002373 | HP:0011172 | Complex febrile seizure | 1 | PCDH19 CL E G H | 57526 | 14270 | ORPHA:101039 | Female restricted epilepsy with intellectual disability | HP:0040283 - Occasional | | | 225 | | |
HP:0002373 | HP:0011172 | Complex febrile seizure | 1 | PDE2A CL E G H | 5138 | 8777 | ORPHA:31709 | Infantile convulsions and choreoathetosis | HP:0040283 - Occasional | | | | | |
HP:0002373 | HP:0011171 | Simple febrile seizure | 1 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:306 | Benign familial infantile epilepsy | HP:0040284 - Very rare | | | 94 | | |
HP:0002373 | HP:0011172 | Complex febrile seizure | 1 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040282 - Frequent | | | 94 | | |
HP:0002373 | HP:0011172 | Complex febrile seizure | 1 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:31709 | Infantile convulsions and choreoathetosis | HP:0040283 - Occasional | | | 94 | | |
HP:0002373 | HP:0011172 | Complex febrile seizure | 1 | SCN1A CL E G H | 6323 | 10585 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 1053 | | |
HP:0002373 | HP:0011172 | Complex febrile seizure | 1 | SCN1A CL E G H | 6323 | 10585 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040282 - Frequent | | | 1053 | | |
HP:0002373 | HP:0011171 | Simple febrile seizure | 1 | SCN1A CL E G H | 6323 | 10585 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040283 - Occasional | | | 1053 | | |
HP:0002373 | HP:0011172 | Complex febrile seizure | 1 | SCN1B CL E G H | 6324 | 10586 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 126 | | |
HP:0002373 | HP:0011171 | Simple febrile seizure | 1 | SCN2A CL E G H | 6326 | 10588 | ORPHA:306 | Benign familial infantile epilepsy | HP:0040284 - Very rare | | | 427 | | |
HP:0002373 | HP:0011172 | Complex febrile seizure | 1 | SCN2A CL E G H | 6326 | 10588 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 427 | | |
HP:0002373 | HP:0011171 | Simple febrile seizure | 1 | SCN3A CL E G H | 6328 | 10590 | OMIM:617935 | Epilepsy, familial focal, with variable foci 4 | | | | 70 | | |
HP:0002373 | HP:0011171 | Simple febrile seizure | 1 | SCN8A CL E G H | 6334 | 10596 | ORPHA:306 | Benign familial infantile epilepsy | HP:0040284 - Very rare | | | 357 | | |
HP:0002373 | HP:0011172 | Complex febrile seizure | 1 | SCN8A CL E G H | 6334 | 10596 | ORPHA:31709 | Infantile convulsions and choreoathetosis | HP:0040283 - Occasional | | | 357 | | |
HP:0002373 | HP:0011172 | Complex febrile seizure | 1 | SCN9A CL E G H | 6335 | 10597 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 318 | | |
HP:0002373 | HP:0011171 | Simple febrile seizure | 1 | SEPSECS CL E G H | 51091 | 30605 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040283 - Occasional | | | 66 | | |
HP:0002373 | HP:0011172 | Complex febrile seizure | 1 | SLC25A12 CL E G H | 8604 | 10982 | OMIM:612949 | Epileptic encephalopathy, early infantile, 39 | | | | 44 | | |
HP:0002373 | HP:0011171 | Simple febrile seizure | 1 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040283 - Occasional | | | 255 | | |
HP:0002373 | HP:0011171 | Simple febrile seizure | 1 | SLC6A1 CL E G H | 6529 | 11042 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040283 - Occasional | | | 29 | | |
HP:0002373 | HP:0011171 | Simple febrile seizure | 1 | SYNGAP1 CL E G H | 8831 | 11497 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040283 - Occasional | | | 108 | | |
HP:0002373 | HP:0011171 | Simple febrile seizure | 1 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:352582 | Familial infantile myoclonic epilepsy | HP:0040282 - Frequent | | | 271 | | |
HP:0002373 | HP:0011171 | Simple febrile seizure | 1 | TSEN15 CL E G H | 116461 | 16791 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040283 - Occasional | | | 3 | | |
HP:0002373 | HP:0011171 | Simple febrile seizure | 1 | TSEN2 CL E G H | 80746 | 28422 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040283 - Occasional | | | 84 | | |
HP:0002373 | HP:0011171 | Simple febrile seizure | 1 | TSEN34 CL E G H | 79042 | 15506 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040283 - Occasional | | | 57 | | |
HP:0002373 | HP:0011171 | Simple febrile seizure | 1 | TSEN54 CL E G H | 283989 | 27561 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040283 - Occasional | | | 102 | | |
HP:0002373 | HP:0011171 | Simple febrile seizure | 1 | WAC CL E G H | 51322 | 17327 | ORPHA:466950 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation | HP:0040283 - Occasional | | | 20 | | |
HP:0002373 | HP:0032656 | Febrile status epilepticus | 2 | SLC25A12 CL E G H | 8604 | 10982 | OMIM:612949 | Epileptic encephalopathy, early infantile, 39 | | | | 44 | | |