Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | AARS2 CL E G H | 57505 | 614096 | Combined oxidative phosphorylation deficiency 8 | 614096 | C3279793 | OMIM | 1 | | 429 | 21022 | 612035 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | AASS CL E G H | 10157 | 268700 | Saccharopinuria | 268700 | C0268556 | OMIM | 1 | | 118 | 17366 | 605113 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | ABCA5 CL E G H | 23461 | 2026 | Hemoglobin E | | C0019024 | ORPHA | 1 | | 51 | 35 | 612503 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 517 | 119 | 609751 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | ADRA2B CL E G H | 151 | 86814 | | | | ORPHA | 1 | | 80 | 282 | 104260 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 385 | 315 | 604581 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | AHSG CL E G H | 197 | 2850 | | | | ORPHA | 1 | | 61 | 349 | 138680 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | AIMP1 CL E G H | 9255 | 260600 | Leukodystrophy, hypomyelinating 3 | 260600 | C1850053 | OMIM | 1 | | 71 | 10648 | 603605 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | ALDH5A1 CL E G H | 7915 | 271980 | Succinate-semialdehyde dehydrogenase deficiency | 271980 | C0268631 | OMIM | 1 | | 597 | 408 | 610045 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | ALDH7A1 CL E G H | 501 | 3006 | | | | ORPHA | 1 | | 761 | 877 | 107323 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | AP1S2 CL E G H | 8905 | 85329 | | | | ORPHA | 1 | | 218 | 560 | 300629 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | AP3D1 CL E G H | 8943 | 617050 | Hermansky-Pudlak syndrome 10 | 617050 | C4310746 | OMIM | 1 | | 596 | 568 | 607246 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | ARG1 CL E G H | 383 | 90 | | | | ORPHA | 1 | | 357 | 663 | 608313 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | ARX CL E G H | 170302 | 309510 | Partington X-linked mental retardation syndrome | 309510 | C0796250 | OMIM | 1 | | 679 | 18060 | 300382 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | ASAH1 CL E G H | 427 | 2590 | | | | ORPHA | 1 | | 712 | 735 | 613468 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | ASL CL E G H | 435 | 23 | Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 | | C2931135 | ORPHA | 1 | | 554 | 746 | 608310 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | ASPA CL E G H | 443 | 314911 | | | | ORPHA | 1 | | 319 | 756 | 608034 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | B3GALNT2 CL E G H | 148789 | 588 | | | | ORPHA | 1 | | 462 | 28596 | 610194 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | BCS1L CL E G H | 617 | 124000 | Mitochondrial complex III deficiency | 124000 | C1852372 | OMIM | 1 | | 334 | 1020 | 603647 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | BRAF CL E G H | 673 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 948 | 1097 | 164757 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | CACNA1A CL E G H | 773 | 617106 | Epileptic encephalopathy, early infantile, 42 | 617106 | C4310716 | OMIM | 1 | | 2689 | 1388 | 601011 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | CCDC47 CL E G H | 57003 | 618268 | 618268 | 618268 | | OMIM | 1 | | 27 | 24856 | 0 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | CDKL5 CL E G H | 6792 | 3095 | | | | ORPHA | 1 | | 1527 | 11411 | 300203 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | CHD2 CL E G H | 1106 | 615369 | Epileptic encephalopathy, childhood-onset | 615369 | C3809278 | OMIM | 1 | | 1526 | 1917 | 602119 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | CLN8 CL E G H | 2055 | 1947 | | | | ORPHA | 1 | | 541 | 2079 | 607837 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | CLN8 CL E G H | 2055 | 600143 | Ceroid lipofuscinosis neuronal 8 | 600143 | C1838570 | OMIM | 1 | | 541 | 2079 | 607837 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | CLN8 CL E G H | 2055 | 610003 | Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant | 610003 | C1864923 | OMIM | 1 | | 541 | 2079 | 607837 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | CNTN2 CL E G H | 6900 | 86814 | | | | ORPHA | 1 | | 518 | 2172 | 190197 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | CNTNAP2 CL E G H | 26047 | 610042 | Pitt-Hopkins-like syndrome 1 | 610042 | C2750246 | OMIM | 1 | | 1634 | 13830 | 604569 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1255 | 2348 | 600140 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | CTNNA2 CL E G H | 1496 | 618174 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 | 618174 | | OMIM | 1 | | 98 | 2510 | 114025 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | CTNND2 CL E G H | 1501 | 86814 | | | | ORPHA | 1 | | 313 | 2516 | 604275 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 119 | 2718 | 600811 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | DEAF1 CL E G H | 10522 | 819 | | | | ORPHA | 1 | | 452 | 14677 | 602635 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 452 | 14677 | 602635 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | DENND5A CL E G H | 23258 | 617281 | Epileptic encephalopathy, early infantile, 49 | 617281 | C4310635 | OMIM | 1 | | 106 | 19344 | 617278 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | DHDDS CL E G H | 79947 | 617836 | DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES | 617836 | CN769090 | OMIM | 1 | | 318 | 20603 | 608172 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | DPM1 CL E G H | 8813 | 608799 | Congenital disorder of glycosylation type 1E | 608799 | C1837396 | OMIM | 1 | | 203 | 3005 | 603503 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | EIF2S3 CL E G H | 1968 | 85282 | | | | ORPHA | 1 | | 190 | 3267 | 300161 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 835 | 3373 | 602700 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | EPG5 CL E G H | 57724 | 1493 | Congenital mesoblastic nephroma | | | ORPHA | 1 | | 1213 | 29331 | 615068 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | ERCC1 CL E G H | 2067 | 610758 | Cerebrooculofacioskeletal syndrome 4 | 610758 | C1853100 | OMIM | 1 | | 113 | 3433 | 126380 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 1196 | 3434 | 126340 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 368 | 3435 | 133510 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 602 | 3436 | 133520 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 425 | 3437 | 133530 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | FARS2 CL E G H | 10667 | 614946 | Combined oxidative phosphorylation deficiency 14 | 614946 | C3554168 | OMIM | 1 | | 479 | 21062 | 611592 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | FKRP CL E G H | 79147 | 588 | | | | ORPHA | 1 | | 787 | 17997 | 606596 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | FKTN CL E G H | 2218 | 588 | | | | ORPHA | 1 | | 783 | 3622 | 607440 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | FKTN CL E G H | 2218 | 272 | VACTERL hydrocephaly | | | ORPHA | 1 | | 783 | 3622 | 607440 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | FLCN CL E G H | 201163 | 610883 | Chromosome 17, trisomy 17p11 2 | 610883 | C2931246 | OMIM | 1 | | 1833 | 27310 | 607273 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | FLII CL E G H | 2314 | 819 | | | | ORPHA | 1 | | 154 | 3750 | 600362 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | FOXG1 CL E G H | 2290 | 3095 | | | | ORPHA | 1 | | 614 | 3811 | 164874 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | FOXG1 CL E G H | 2290 | 613454 | Rett syndrome, congenital variant | 613454 | C3150705 | OMIM | 1 | | 614 | 3811 | 164874 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | GABBR2 CL E G H | 9568 | 3095 | | | | ORPHA | 1 | | 682 | 4507 | 607340 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | GABRA1 CL E G H | 2554 | 33069 | | | | ORPHA | 1 | | 519 | 4075 | 137160 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | GABRB2 CL E G H | 2561 | 617829 | EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2 | 617829 | CN757794 | OMIM | 1 | | 421 | 4082 | 600232 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | GABRD CL E G H | 2563 | 1606 | | | | ORPHA | 1 | | 397 | 4084 | 137163 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | GABRG2 CL E G H | 2566 | 33069 | | | | ORPHA | 1 | | 528 | 4087 | 137164 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | GALC CL E G H | 2581 | 245200 | Galactosylceramide beta-galactosidase deficiency | 245200 | C0023521 | OMIM | 1 | | 962 | 4115 | 606890 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | GMPPB CL E G H | 29925 | 588 | | | | ORPHA | 1 | | 273 | 22932 | 615320 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | GNB1 CL E G H | 2782 | 616973 | Mental retardation, autosomal dominant 42 | 616973 | C4310774 | OMIM | 1 | | 310 | 4396 | 139380 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | GPAA1 CL E G H | 8733 | 617810 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 | 617810 | C4540520 | OMIM | 1 | | 353 | 4446 | 603048 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | GRIN1 CL E G H | 2902 | 614254 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | 614254 | C3280282 | OMIM | 1 | | 735 | 4584 | 138249 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | GRIN2B CL E G H | 2904 | 613970 | Mental retardation, autosomal dominant 6 | 613970 | C3151411 | OMIM | 1 | | 1124 | 4586 | 138252 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | GRN CL E G H | 2896 | 614706 | Ceroid lipofuscinosis, neuronal, 11 | 614706 | C3539123 | OMIM | 1 | | 417 | 4601 | 138945 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | HECW2 CL E G H | 57520 | 617268 | Neurodevelopmental disorder with hypotonia, seizures, and absent language | 617268 | C4310643 | OMIM | 1 | | 239 | 29853 | 617245 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | HIC1 CL E G H | 3090 | 531 | Acute myeloblastic leukemia type 6 | | | ORPHA | 1 | | 73 | 4909 | 603825 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | HMGCL CL E G H | 3155 | 246450 | Deficiency of hydroxymethylglutaryl-CoA lyase | 246450 | C0268601 | OMIM | 1 | | 327 | 5005 | 613898 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | HNRNPU CL E G H | 3192 | 617391 | Epileptic encephalopathy, early infantile, 54 | 617391 | C4479319 | OMIM | 1 | | 692 | 5048 | 602869 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | HRAS CL E G H | 3265 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 1 | | 547 | 5173 | 190020 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | HTT CL E G H | 3064 | 399 | 46,XX testicular disorder of sex development | | C2936420 | ORPHA | 1 | | 735 | 4851 | 613004 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | IQSEC2 CL E G H | 23096 | 819 | | | | ORPHA | 1 | | 955 | 29059 | 300522 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | ITGB6 CL E G H | 3694 | 2850 | | | | ORPHA | 1 | | 95 | 6161 | 147558 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | KCNAB2 CL E G H | 8514 | 1606 | | | | ORPHA | 1 | | 91 | 6229 | 601142 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | KCNMA1 CL E G H | 3778 | 617643 | CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES | 617643 | C4539985 | OMIM | 1 | | 868 | 6284 | 600150 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | KRAS CL E G H | 3845 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 440 | 6407 | 190070 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | KRAS CL E G H | 3845 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 1 | | 440 | 6407 | 190070 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | LAGE3 CL E G H | 8270 | 2065 | | | | ORPHA | 1 | | 233 | 26058 | 300060 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | LAMC3 CL E G H | 10319 | 614115 | Cortical malformations, occipital | 614115 | C3279875 | OMIM | 1 | | 1071 | 6494 | 604349 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | LARGE1 CL E G H | 9215 | 588 | | | | ORPHA | 1 | | 658 | 6511 | 603590 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | LARS2 CL E G H | 23395 | 617021 | Hydrops, lactic acidosis, and sideroblastic anemia | 617021 | C4310761 | OMIM | 1 | | 267 | 17095 | 604544 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | LIPT2 CL E G H | 387787 | 617668 | ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES | 617668 | C4540052 | OMIM | 1 | | 61 | 37216 | 617659 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | MAP2K1 CL E G H | 5604 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 398 | 6840 | 176872 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | MAP2K2 CL E G H | 5605 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 599 | 6842 | 601263 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | MCOLN1 CL E G H | 57192 | 578 | Akesson syndrome | | | ORPHA | 1 | | 538 | 13356 | 605248 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | MECP2 CL E G H | 4204 | 778 | | | | ORPHA | 1 | | 1778 | 6990 | 300005 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | MECP2 CL E G H | 4204 | 3095 | | | | ORPHA | 1 | | 1778 | 6990 | 300005 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | MECP2 CL E G H | 4204 | 300055 | Mental retardation, X-linked, syndromic 13 | 300055 | C1968550 | OMIM | 1 | | 1778 | 6990 | 300005 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | MECP2 CL E G H | 4204 | 312750 | Rett syndrome | 312750 | C0035372 | OMIM | 1 | | 1778 | 6990 | 300005 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | MECP2 CL E G H | 4204 | 300673 | Severe neonatal-onset encephalopathy with microcephaly | 300673 | C1968556 | OMIM | 1 | | 1778 | 6990 | 300005 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | MFSD8 CL E G H | 256471 | 610951 | Ceroid lipofuscinosis neuronal 7 | 610951 | C1838571 | OMIM | 1 | | 687 | 28486 | 611124 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | NDUFA9 CL E G H | 4704 | 618247 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 | 618247 | | OMIM | 1 | | 179 | 7693 | 603834 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | NEU1 CL E G H | 4758 | 812 | | | | ORPHA | 1 | | 147 | 7758 | 608272 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | NLGN4X CL E G H | 57502 | 300495 | Autism, susceptibility to, X-linked 2 | 300495 | C1845539 | OMIM | 1 | | 392 | 14287 | 300427 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | NOTCH3 CL E G H | 4854 | 136 | | | | ORPHA | 1 | | 1133 | 7883 | 600276 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | NRAS CL E G H | 4893 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 1 | | 250 | 7989 | 164790 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | NTNG1 CL E G H | 22854 | 3095 | | | | ORPHA | 1 | | 45 | 23319 | 608818 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | NUP107 CL E G H | 57122 | 2065 | | | | ORPHA | 1 | | 149 | 29914 | 607617 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | OCRL CL E G H | 4952 | 534 | Acute myeloblastic leukemia without maturation | | | ORPHA | 1 | | 508 | 8108 | 300535 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | OSGEP CL E G H | 55644 | 2065 | | | | ORPHA | 1 | | 106 | 18028 | 610107 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | PAFAH1B1 CL E G H | 5048 | 531 | Acute myeloblastic leukemia type 6 | | | ORPHA | 1 | | 439 | 8574 | 601545 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | PAX6 CL E G H | 5080 | 137902 | | | | ORPHA | 1 | | 688 | 8620 | 607108 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | PCDH19 CL E G H | 57526 | 33069 | | | | ORPHA | 1 | | 1120 | 14270 | 300460 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | PCK1 CL E G H | 5105 | 261680 | Phosphoenolpyruvate carboxykinase deficiency, cytosolic | 261680 | C1849814 | OMIM | 1 | | 170 | 8724 | 614168 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | PEX1 CL E G H | 5189 | 912 | | | | ORPHA | 1 | | 1205 | 8850 | 602136 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | PEX1 CL E G H | 5189 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 1205 | 8850 | 602136 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | PEX10 CL E G H | 5192 | 912 | | | | ORPHA | 1 | | 654 | 8851 | 602859 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | PEX10 CL E G H | 5192 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 654 | 8851 | 602859 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | PEX11B CL E G H | 8799 | 912 | | | | ORPHA | 1 | | 350 | 8853 | 603867 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | PEX11B CL E G H | 8799 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 350 | 8853 | 603867 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | PEX12 CL E G H | 5193 | 912 | | | | ORPHA | 1 | | 360 | 8854 | 601758 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | PEX12 CL E G H | 5193 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 360 | 8854 | 601758 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | PEX13 CL E G H | 5194 | 912 | | | | ORPHA | 1 | | 397 | 8855 | 601789 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | PEX13 CL E G H | 5194 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 397 | 8855 | 601789 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | PEX14 CL E G H | 5195 | 912 | | | | ORPHA | 1 | | 374 | 8856 | 601791 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | PEX14 CL E G H | 5195 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 374 | 8856 | 601791 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | PEX16 CL E G H | 9409 | 912 | | | | ORPHA | 1 | | 346 | 8857 | 603360 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | PEX16 CL E G H | 9409 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 346 | 8857 | 603360 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | PEX19 CL E G H | 5824 | 912 | | | | ORPHA | 1 | | 304 | 9713 | 600279 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | PEX19 CL E G H | 5824 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 304 | 9713 | 600279 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | PEX2 CL E G H | 5828 | 912 | | | | ORPHA | 1 | | 366 | 9717 | 170993 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | PEX2 CL E G H | 5828 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 366 | 9717 | 170993 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | PEX26 CL E G H | 55670 | 912 | | | | ORPHA | 1 | | 431 | 22965 | 608666 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | PEX26 CL E G H | 55670 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 431 | 22965 | 608666 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | PEX3 CL E G H | 8504 | 912 | | | | ORPHA | 1 | | 271 | 8858 | 603164 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | PEX3 CL E G H | 8504 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 271 | 8858 | 603164 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | PEX5 CL E G H | 5830 | 912 | | | | ORPHA | 1 | | 689 | 9719 | 600414 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | PEX5 CL E G H | 5830 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 689 | 9719 | 600414 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | PEX6 CL E G H | 5190 | 912 | | | | ORPHA | 1 | | 1085 | 8859 | 601498 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | PEX6 CL E G H | 5190 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 1085 | 8859 | 601498 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | PHF6 CL E G H | 84295 | 301900 | Borjeson-Forssman-Lehmann syndrome | 301900 | C0265339 | OMIM | 1 | | 285 | 18145 | 300414 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | PIGT CL E G H | 51604 | 615398 | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | 615398 | C3809356 | OMIM | 1 | | 161 | 14938 | 610272 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | PLPBP CL E G H | 11212 | 3006 | | | | ORPHA | 1 | | 90 | 9457 | 604436 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | POMGNT1 CL E G H | 55624 | 588 | | | | ORPHA | 1 | | 943 | 19139 | 606822 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | POMGNT1 CL E G H | 55624 | 253280 | Muscle eye brain disease | 253280 | C0457133 | OMIM | 1 | | 943 | 19139 | 606822 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | POMT1 CL E G H | 10585 | 588 | | | | ORPHA | 1 | | 737 | 9202 | 607423 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | POMT2 CL E G H | 29954 | 588 | | | | ORPHA | 1 | | 766 | 19743 | 607439 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | PPT1 CL E G H | 5538 | 256730 | Ceroid lipofuscinosis neuronal 1 | 256730 | C1850451 | OMIM | 1 | | 516 | 9325 | 600722 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | PRDM16 CL E G H | 63976 | 1606 | | | | ORPHA | 1 | | 1081 | 14000 | 605557 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | PRODH CL E G H | 5625 | 239500 | Proline dehydrogenase deficiency | 239500 | C0268529 | OMIM | 1 | | 639 | 9453 | 606810 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | RAI1 CL E G H | 10743 | 819 | | | | ORPHA | 1 | | 1149 | 9834 | 607642 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | RAI1 CL E G H | 10743 | 1713 | | | | ORPHA | 1 | | 1149 | 9834 | 607642 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | RAI1 CL E G H | 10743 | 182290 | Smith-Magenis syndrome | 182290 | C0795864 | OMIM | 1 | | 1149 | 9834 | 607642 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | RERE CL E G H | 473 | 1606 | | | | ORPHA | 1 | | 343 | 9965 | 605226 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | RMRP CL E G H | 6023 | 175 | | | | ORPHA | 1 | | 625 | 10031 | 157660 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | ROGDI CL E G H | 79641 | 1946 | | | | ORPHA | 1 | | 473 | 29478 | 614574 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | SAMD12 CL E G H | 401474 | 86814 | | | | ORPHA | 1 | | 62 | 31750 | 618073 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | SCN1A CL E G H | 6323 | 33069 | | | | ORPHA | 1 | | 3464 | 10585 | 182389 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | SCN1B CL E G H | 6324 | 33069 | | | | ORPHA | 1 | | 444 | 10586 | 600235 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | SCN2A CL E G H | 6326 | 33069 | | | | ORPHA | 1 | | 1914 | 10588 | 182390 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | SCN9A CL E G H | 6335 | 33069 | | | | ORPHA | 1 | | 1907 | 10597 | 603415 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | SH2B1 CL E G H | 25970 | 261197 | | | | ORPHA | 1 | | 204 | 30417 | 608937 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | SIM1 CL E G H | 6492 | 171829 | | | | ORPHA | 1 | | 166 | 10882 | 603128 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | SKI CL E G H | 6497 | 1606 | | | | ORPHA | 1 | | 910 | 10896 | 164780 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | SLC12A6 CL E G H | 9990 | 1496 | Congenital mitral stenosis | | | ORPHA | 1 | | 911 | 10914 | 604878 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | SLC13A5 CL E G H | 284111 | 1946 | | | | ORPHA | 1 | | 568 | 23089 | 608305 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | SLC13A5 CL E G H | 284111 | 3006 | | | | ORPHA | 1 | | 568 | 23089 | 608305 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | SLC2A1 CL E G H | 6513 | 71277 | | | | ORPHA | 1 | | 827 | 11005 | 138140 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | SLC2A1 CL E G H | 6513 | 606777 | GLUT1 deficiency syndrome 1 | 606777 | CN030711 | OMIM | 1 | | 827 | 11005 | 138140 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | SLC2A1 CL E G H | 6513 | 612126 | GLUT1 deficiency syndrome 2 | 612126 | C1842534 | OMIM | 1 | | 827 | 11005 | 138140 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | SLC2A3 CL E G H | 6515 | 399 | 46,XX testicular disorder of sex development | | C2936420 | ORPHA | 1 | | 71 | 11007 | 138170 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | SLC6A19 CL E G H | 340024 | 2116 | Encephalopathy-basal ganglia-calcification | | | ORPHA | 1 | | 371 | 27960 | 608893 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | SNIP1 CL E G H | 79753 | 614501 | Psychomotor retardation, epilepsy, and craniofacial dysmorphism | 614501 | C3281055 | OMIM | 1 | | 132 | 30587 | 608241 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | SNRPN CL E G H | 6638 | 209850 | Autistic disorder of childhood onset | 209850 | C0004352 | OMIM | 1 | | 377 | 11164 | 182279 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | SPATA5 CL E G H | 166378 | 616577 | Epilepsy, hearing loss, and mental retardation syndrome | 616577 | C4225276 | OMIM | 1 | | 646 | 18119 | 613940 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | STXBP1 CL E G H | 6812 | 3095 | | | | ORPHA | 1 | | 871 | 11444 | 602926 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | STXBP1 CL E G H | 6812 | 33069 | | | | ORPHA | 1 | | 871 | 11444 | 602926 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | SYNGAP1 CL E G H | 8831 | 612621 | Mental retardation, autosomal dominant 5 | 612621 | C2675473 | OMIM | 1 | | 1086 | 11497 | 603384 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | SYT1 CL E G H | 6857 | 618218 | BAKER-GORDON SYNDROME | 618218 | | OMIM | 1 | | 50 | 11509 | 185605 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | SZT2 CL E G H | 23334 | 615476 | Early infantile epileptic encephalopathy 18 | 615476 | C3809624 | OMIM | 1 | | 2342 | 29040 | 615463 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | TBC1D24 CL E G H | 57465 | 79500 | | | | ORPHA | 1 | | 795 | 29203 | 613577 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | TP53RK CL E G H | 112858 | 2065 | | | | ORPHA | 1 | | 40 | 16197 | 608679 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | TPRKB CL E G H | 51002 | 2065 | | | | ORPHA | 1 | | 22 | 24259 | 608680 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | TRIT1 CL E G H | 54802 | 617873 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35 | 617873 | CN807948 | OMIM | 1 | | 76 | 20286 | 617840 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | TSC1 CL E G H | 7248 | 805 | | | | ORPHA | 1 | | 3690 | 12362 | 605284 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | TSC2 CL E G H | 7249 | 805 | | | | ORPHA | 1 | | 8495 | 12363 | 191092 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | TYROBP CL E G H | 7305 | 221770 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | 221770 | C1857316 | OMIM | 1 | | 85 | 12449 | 604142 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | UBE3A CL E G H | 7337 | 105830 | Angelman syndrome | 105830 | C0162635 | OMIM | 1 | | 993 | 12496 | 601623 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | WDR4 CL E G H | 10785 | 2065 | | | | ORPHA | 1 | | 147 | 12756 | 605924 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | WDR73 CL E G H | 84942 | 2065 | | | | ORPHA | 1 | | 138 | 25928 | 616144 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 276 | 12814 | 611153 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 669 | 12816 | 613208 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | YWHAE CL E G H | 7531 | 531 | Acute myeloblastic leukemia type 6 | | | ORPHA | 1 | | 177 | 12851 | 605066 |
HP:0002353 | HP:0002353 | EEG abnormality | 0 | YWHAG CL E G H | 7532 | 617665 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56 | 617665 | C4540034 | OMIM | 1 | | 128 | 12852 | 605356 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | AARS2 CL E G H | 57505 | 614096 | Combined oxidative phosphorylation deficiency 8 | 614096 | C3279793 | OMIM | 1 | | 429 | 21022 | 612035 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | AARS2 CL E G H | 57505 | 614096 | Combined oxidative phosphorylation deficiency 8 | 614096 | C3279793 | OMIM | 1 | | 429 | 21022 | 612035 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | AARS2 CL E G H | 57505 | 614096 | Combined oxidative phosphorylation deficiency 8 | 614096 | C3279793 | OMIM | 1 | | 429 | 21022 | 612035 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | AARS2 CL E G H | 57505 | 614096 | Combined oxidative phosphorylation deficiency 8 | 614096 | C3279793 | OMIM | 1 | | 429 | 21022 | 612035 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | AARS2 CL E G H | 57505 | 614096 | Combined oxidative phosphorylation deficiency 8 | 614096 | C3279793 | OMIM | 1 | | 429 | 21022 | 612035 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | AARS2 CL E G H | 57505 | 614096 | Combined oxidative phosphorylation deficiency 8 | 614096 | C3279793 | OMIM | 1 | | 429 | 21022 | 612035 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | AASS CL E G H | 10157 | 268700 | Saccharopinuria | 268700 | C0268556 | OMIM | 1 | | 118 | 17366 | 605113 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | AASS CL E G H | 10157 | 268700 | Saccharopinuria | 268700 | C0268556 | OMIM | 1 | | 118 | 17366 | 605113 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | AASS CL E G H | 10157 | 268700 | Saccharopinuria | 268700 | C0268556 | OMIM | 1 | | 118 | 17366 | 605113 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | AASS CL E G H | 10157 | 268700 | Saccharopinuria | 268700 | C0268556 | OMIM | 1 | | 118 | 17366 | 605113 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | AASS CL E G H | 10157 | 268700 | Saccharopinuria | 268700 | C0268556 | OMIM | 1 | | 118 | 17366 | 605113 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | AASS CL E G H | 10157 | 268700 | Saccharopinuria | 268700 | C0268556 | OMIM | 1 | | 118 | 17366 | 605113 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | ABCA5 CL E G H | 23461 | 2026 | Hemoglobin E | | C0019024 | ORPHA | 1 | | 51 | 35 | 612503 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | ABCA5 CL E G H | 23461 | 2026 | Hemoglobin E | | C0019024 | ORPHA | 1 | | 51 | 35 | 612503 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | ABCA5 CL E G H | 23461 | 2026 | Hemoglobin E | | C0019024 | ORPHA | 1 | | 51 | 35 | 612503 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | ABCA5 CL E G H | 23461 | 2026 | Hemoglobin E | | C0019024 | ORPHA | 1 | | 51 | 35 | 612503 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | ABCA5 CL E G H | 23461 | 2026 | Hemoglobin E | | C0019024 | ORPHA | 1 | | 51 | 35 | 612503 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | ABCA5 CL E G H | 23461 | 2026 | Hemoglobin E | | C0019024 | ORPHA | 1 | | 51 | 35 | 612503 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 517 | 119 | 609751 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 517 | 119 | 609751 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 517 | 119 | 609751 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 517 | 119 | 609751 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 517 | 119 | 609751 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 517 | 119 | 609751 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | ADRA2B CL E G H | 151 | 86814 | | | | ORPHA | 1 | | 80 | 282 | 104260 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | ADRA2B CL E G H | 151 | 86814 | | | | ORPHA | 1 | | 80 | 282 | 104260 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | ADRA2B CL E G H | 151 | 86814 | | | | ORPHA | 1 | | 80 | 282 | 104260 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | ADRA2B CL E G H | 151 | 86814 | | | | ORPHA | 1 | | 80 | 282 | 104260 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | ADRA2B CL E G H | 151 | 86814 | | | | ORPHA | 1 | | 80 | 282 | 104260 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | ADRA2B CL E G H | 151 | 86814 | | | | ORPHA | 1 | | 80 | 282 | 104260 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 385 | 315 | 604581 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 385 | 315 | 604581 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 385 | 315 | 604581 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 385 | 315 | 604581 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 385 | 315 | 604581 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 385 | 315 | 604581 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | AHSG CL E G H | 197 | 2850 | | | | ORPHA | 1 | | 61 | 349 | 138680 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | AHSG CL E G H | 197 | 2850 | | | | ORPHA | 1 | | 61 | 349 | 138680 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | AHSG CL E G H | 197 | 2850 | | | | ORPHA | 1 | | 61 | 349 | 138680 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | AHSG CL E G H | 197 | 2850 | | | | ORPHA | 1 | | 61 | 349 | 138680 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | AHSG CL E G H | 197 | 2850 | | | | ORPHA | 1 | | 61 | 349 | 138680 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | AHSG CL E G H | 197 | 2850 | | | | ORPHA | 1 | | 61 | 349 | 138680 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | AIMP1 CL E G H | 9255 | 260600 | Leukodystrophy, hypomyelinating 3 | 260600 | C1850053 | OMIM | 1 | | 71 | 10648 | 603605 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | AIMP1 CL E G H | 9255 | 260600 | Leukodystrophy, hypomyelinating 3 | 260600 | C1850053 | OMIM | 1 | | 71 | 10648 | 603605 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | AIMP1 CL E G H | 9255 | 260600 | Leukodystrophy, hypomyelinating 3 | 260600 | C1850053 | OMIM | 1 | | 71 | 10648 | 603605 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | AIMP1 CL E G H | 9255 | 260600 | Leukodystrophy, hypomyelinating 3 | 260600 | C1850053 | OMIM | 1 | | 71 | 10648 | 603605 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | AIMP1 CL E G H | 9255 | 260600 | Leukodystrophy, hypomyelinating 3 | 260600 | C1850053 | OMIM | 1 | | 71 | 10648 | 603605 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | AIMP1 CL E G H | 9255 | 260600 | Leukodystrophy, hypomyelinating 3 | 260600 | C1850053 | OMIM | 1 | | 71 | 10648 | 603605 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | ALDH5A1 CL E G H | 7915 | 271980 | Succinate-semialdehyde dehydrogenase deficiency | 271980 | C0268631 | OMIM | 1 | | 597 | 408 | 610045 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | ALDH5A1 CL E G H | 7915 | 271980 | Succinate-semialdehyde dehydrogenase deficiency | 271980 | C0268631 | OMIM | 1 | | 597 | 408 | 610045 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | ALDH5A1 CL E G H | 7915 | 271980 | Succinate-semialdehyde dehydrogenase deficiency | 271980 | C0268631 | OMIM | 1 | | 597 | 408 | 610045 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | ALDH5A1 CL E G H | 7915 | 271980 | Succinate-semialdehyde dehydrogenase deficiency | 271980 | C0268631 | OMIM | 1 | | 597 | 408 | 610045 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | ALDH5A1 CL E G H | 7915 | 271980 | Succinate-semialdehyde dehydrogenase deficiency | 271980 | C0268631 | OMIM | 1 | | 597 | 408 | 610045 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | ALDH5A1 CL E G H | 7915 | 271980 | Succinate-semialdehyde dehydrogenase deficiency | 271980 | C0268631 | OMIM | 1 | | 597 | 408 | 610045 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | ALDH7A1 CL E G H | 501 | 3006 | | | | ORPHA | 1 | | 761 | 877 | 107323 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | ALDH7A1 CL E G H | 501 | 3006 | | | | ORPHA | 1 | | 761 | 877 | 107323 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | ALDH7A1 CL E G H | 501 | 3006 | | | | ORPHA | 1 | | 761 | 877 | 107323 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | ALDH7A1 CL E G H | 501 | 3006 | | | | ORPHA | 1 | | 761 | 877 | 107323 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | ALDH7A1 CL E G H | 501 | 3006 | | | | ORPHA | 1 | | 761 | 877 | 107323 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | ALDH7A1 CL E G H | 501 | 3006 | | | | ORPHA | 1 | | 761 | 877 | 107323 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | AP1S2 CL E G H | 8905 | 85329 | | | | ORPHA | 1 | | 218 | 560 | 300629 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | AP1S2 CL E G H | 8905 | 85329 | | | | ORPHA | 1 | | 218 | 560 | 300629 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | AP1S2 CL E G H | 8905 | 85329 | | | | ORPHA | 1 | | 218 | 560 | 300629 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | AP1S2 CL E G H | 8905 | 85329 | | | | ORPHA | 1 | | 218 | 560 | 300629 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | AP1S2 CL E G H | 8905 | 85329 | | | | ORPHA | 1 | | 218 | 560 | 300629 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | AP1S2 CL E G H | 8905 | 85329 | | | | ORPHA | 1 | | 218 | 560 | 300629 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | AP3D1 CL E G H | 8943 | 617050 | Hermansky-Pudlak syndrome 10 | 617050 | C4310746 | OMIM | 1 | | 596 | 568 | 607246 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | AP3D1 CL E G H | 8943 | 617050 | Hermansky-Pudlak syndrome 10 | 617050 | C4310746 | OMIM | 1 | | 596 | 568 | 607246 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | AP3D1 CL E G H | 8943 | 617050 | Hermansky-Pudlak syndrome 10 | 617050 | C4310746 | OMIM | 1 | | 596 | 568 | 607246 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | AP3D1 CL E G H | 8943 | 617050 | Hermansky-Pudlak syndrome 10 | 617050 | C4310746 | OMIM | 1 | | 596 | 568 | 607246 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | AP3D1 CL E G H | 8943 | 617050 | Hermansky-Pudlak syndrome 10 | 617050 | C4310746 | OMIM | 1 | | 596 | 568 | 607246 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | AP3D1 CL E G H | 8943 | 617050 | Hermansky-Pudlak syndrome 10 | 617050 | C4310746 | OMIM | 1 | | 596 | 568 | 607246 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | ARG1 CL E G H | 383 | 90 | | | | ORPHA | 1 | | 357 | 663 | 608313 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | ARG1 CL E G H | 383 | 90 | | | | ORPHA | 1 | | 357 | 663 | 608313 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | ARG1 CL E G H | 383 | 90 | | | | ORPHA | 1 | | 357 | 663 | 608313 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | ARG1 CL E G H | 383 | 90 | | | | ORPHA | 1 | | 357 | 663 | 608313 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | ARG1 CL E G H | 383 | 90 | | | | ORPHA | 1 | | 357 | 663 | 608313 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | ARG1 CL E G H | 383 | 90 | | | | ORPHA | 1 | | 357 | 663 | 608313 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | ARX CL E G H | 170302 | 309510 | Partington X-linked mental retardation syndrome | 309510 | C0796250 | OMIM | 1 | | 679 | 18060 | 300382 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | ARX CL E G H | 170302 | 309510 | Partington X-linked mental retardation syndrome | 309510 | C0796250 | OMIM | 1 | | 679 | 18060 | 300382 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | ARX CL E G H | 170302 | 309510 | Partington X-linked mental retardation syndrome | 309510 | C0796250 | OMIM | 1 | | 679 | 18060 | 300382 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | ARX CL E G H | 170302 | 309510 | Partington X-linked mental retardation syndrome | 309510 | C0796250 | OMIM | 1 | | 679 | 18060 | 300382 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | ARX CL E G H | 170302 | 309510 | Partington X-linked mental retardation syndrome | 309510 | C0796250 | OMIM | 1 | | 679 | 18060 | 300382 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | ARX CL E G H | 170302 | 309510 | Partington X-linked mental retardation syndrome | 309510 | C0796250 | OMIM | 1 | | 679 | 18060 | 300382 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | ASAH1 CL E G H | 427 | 2590 | | | | ORPHA | 1 | | 712 | 735 | 613468 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | ASAH1 CL E G H | 427 | 2590 | | | | ORPHA | 1 | | 712 | 735 | 613468 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | ASAH1 CL E G H | 427 | 2590 | | | | ORPHA | 1 | | 712 | 735 | 613468 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | ASAH1 CL E G H | 427 | 2590 | | | | ORPHA | 1 | | 712 | 735 | 613468 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | ASAH1 CL E G H | 427 | 2590 | | | | ORPHA | 1 | | 712 | 735 | 613468 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | ASAH1 CL E G H | 427 | 2590 | | | | ORPHA | 1 | | 712 | 735 | 613468 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | ASL CL E G H | 435 | 23 | Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 | | C2931135 | ORPHA | 1 | | 554 | 746 | 608310 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | ASL CL E G H | 435 | 23 | Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 | | C2931135 | ORPHA | 1 | | 554 | 746 | 608310 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | ASL CL E G H | 435 | 23 | Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 | | C2931135 | ORPHA | 1 | | 554 | 746 | 608310 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | ASL CL E G H | 435 | 23 | Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 | | C2931135 | ORPHA | 1 | | 554 | 746 | 608310 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | ASL CL E G H | 435 | 23 | Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 | | C2931135 | ORPHA | 1 | | 554 | 746 | 608310 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | ASL CL E G H | 435 | 23 | Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 | | C2931135 | ORPHA | 1 | | 554 | 746 | 608310 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | ASPA CL E G H | 443 | 314911 | | | | ORPHA | 1 | | 319 | 756 | 608034 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | ASPA CL E G H | 443 | 314911 | | | | ORPHA | 1 | | 319 | 756 | 608034 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | ASPA CL E G H | 443 | 314911 | | | | ORPHA | 1 | | 319 | 756 | 608034 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | ASPA CL E G H | 443 | 314911 | | | | ORPHA | 1 | | 319 | 756 | 608034 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | ASPA CL E G H | 443 | 314911 | | | | ORPHA | 1 | | 319 | 756 | 608034 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | ASPA CL E G H | 443 | 314911 | | | | ORPHA | 1 | | 319 | 756 | 608034 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | B3GALNT2 CL E G H | 148789 | 588 | | | | ORPHA | 1 | | 462 | 28596 | 610194 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | B3GALNT2 CL E G H | 148789 | 588 | | | | ORPHA | 1 | | 462 | 28596 | 610194 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | B3GALNT2 CL E G H | 148789 | 588 | | | | ORPHA | 1 | | 462 | 28596 | 610194 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | B3GALNT2 CL E G H | 148789 | 588 | | | | ORPHA | 1 | | 462 | 28596 | 610194 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | B3GALNT2 CL E G H | 148789 | 588 | | | | ORPHA | 1 | | 462 | 28596 | 610194 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | B3GALNT2 CL E G H | 148789 | 588 | | | | ORPHA | 1 | | 462 | 28596 | 610194 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | BCS1L CL E G H | 617 | 124000 | Mitochondrial complex III deficiency | 124000 | C1852372 | OMIM | 1 | | 334 | 1020 | 603647 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | BCS1L CL E G H | 617 | 124000 | Mitochondrial complex III deficiency | 124000 | C1852372 | OMIM | 1 | | 334 | 1020 | 603647 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | BCS1L CL E G H | 617 | 124000 | Mitochondrial complex III deficiency | 124000 | C1852372 | OMIM | 1 | | 334 | 1020 | 603647 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | BCS1L CL E G H | 617 | 124000 | Mitochondrial complex III deficiency | 124000 | C1852372 | OMIM | 1 | | 334 | 1020 | 603647 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | BCS1L CL E G H | 617 | 124000 | Mitochondrial complex III deficiency | 124000 | C1852372 | OMIM | 1 | | 334 | 1020 | 603647 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | BCS1L CL E G H | 617 | 124000 | Mitochondrial complex III deficiency | 124000 | C1852372 | OMIM | 1 | | 334 | 1020 | 603647 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | BRAF CL E G H | 673 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 948 | 1097 | 164757 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | BRAF CL E G H | 673 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 948 | 1097 | 164757 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | BRAF CL E G H | 673 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 948 | 1097 | 164757 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | BRAF CL E G H | 673 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 948 | 1097 | 164757 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | BRAF CL E G H | 673 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 948 | 1097 | 164757 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | BRAF CL E G H | 673 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 948 | 1097 | 164757 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | CACNA1A CL E G H | 773 | 617106 | Epileptic encephalopathy, early infantile, 42 | 617106 | C4310716 | OMIM | 1 | | 2689 | 1388 | 601011 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | CACNA1A CL E G H | 773 | 617106 | Epileptic encephalopathy, early infantile, 42 | 617106 | C4310716 | OMIM | 1 | | 2689 | 1388 | 601011 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | CACNA1A CL E G H | 773 | 617106 | Epileptic encephalopathy, early infantile, 42 | 617106 | C4310716 | OMIM | 1 | | 2689 | 1388 | 601011 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | CACNA1A CL E G H | 773 | 617106 | Epileptic encephalopathy, early infantile, 42 | 617106 | C4310716 | OMIM | 1 | | 2689 | 1388 | 601011 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | CACNA1A CL E G H | 773 | 617106 | Epileptic encephalopathy, early infantile, 42 | 617106 | C4310716 | OMIM | 1 | | 2689 | 1388 | 601011 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | CACNA1A CL E G H | 773 | 617106 | Epileptic encephalopathy, early infantile, 42 | 617106 | C4310716 | OMIM | 1 | | 2689 | 1388 | 601011 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | CCDC47 CL E G H | 57003 | 618268 | 618268 | 618268 | | OMIM | 1 | | 27 | 24856 | 0 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | CCDC47 CL E G H | 57003 | 618268 | 618268 | 618268 | | OMIM | 1 | | 27 | 24856 | 0 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | CCDC47 CL E G H | 57003 | 618268 | 618268 | 618268 | | OMIM | 1 | | 27 | 24856 | 0 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | CCDC47 CL E G H | 57003 | 618268 | 618268 | 618268 | | OMIM | 1 | | 27 | 24856 | 0 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | CCDC47 CL E G H | 57003 | 618268 | 618268 | 618268 | | OMIM | 1 | | 27 | 24856 | 0 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | CCDC47 CL E G H | 57003 | 618268 | 618268 | 618268 | | OMIM | 1 | | 27 | 24856 | 0 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | CDKL5 CL E G H | 6792 | 3095 | | | | ORPHA | 1 | | 1527 | 11411 | 300203 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | CDKL5 CL E G H | 6792 | 3095 | | | | ORPHA | 1 | | 1527 | 11411 | 300203 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | CDKL5 CL E G H | 6792 | 3095 | | | | ORPHA | 1 | | 1527 | 11411 | 300203 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | CDKL5 CL E G H | 6792 | 3095 | | | | ORPHA | 1 | | 1527 | 11411 | 300203 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | CDKL5 CL E G H | 6792 | 3095 | | | | ORPHA | 1 | | 1527 | 11411 | 300203 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | CDKL5 CL E G H | 6792 | 3095 | | | | ORPHA | 1 | | 1527 | 11411 | 300203 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | CHD2 CL E G H | 1106 | 615369 | Epileptic encephalopathy, childhood-onset | 615369 | C3809278 | OMIM | 1 | | 1526 | 1917 | 602119 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | CHD2 CL E G H | 1106 | 615369 | Epileptic encephalopathy, childhood-onset | 615369 | C3809278 | OMIM | 1 | | 1526 | 1917 | 602119 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | CHD2 CL E G H | 1106 | 615369 | Epileptic encephalopathy, childhood-onset | 615369 | C3809278 | OMIM | 1 | | 1526 | 1917 | 602119 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | CHD2 CL E G H | 1106 | 615369 | Epileptic encephalopathy, childhood-onset | 615369 | C3809278 | OMIM | 1 | | 1526 | 1917 | 602119 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | CHD2 CL E G H | 1106 | 615369 | Epileptic encephalopathy, childhood-onset | 615369 | C3809278 | OMIM | 1 | | 1526 | 1917 | 602119 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | CHD2 CL E G H | 1106 | 615369 | Epileptic encephalopathy, childhood-onset | 615369 | C3809278 | OMIM | 1 | | 1526 | 1917 | 602119 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | CLN8 CL E G H | 2055 | 1947 | | | | ORPHA | 1 | | 541 | 2079 | 607837 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | CLN8 CL E G H | 2055 | 1947 | | | | ORPHA | 1 | | 541 | 2079 | 607837 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | CLN8 CL E G H | 2055 | 1947 | | | | ORPHA | 1 | | 541 | 2079 | 607837 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | CLN8 CL E G H | 2055 | 1947 | | | | ORPHA | 1 | | 541 | 2079 | 607837 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | CLN8 CL E G H | 2055 | 1947 | | | | ORPHA | 1 | | 541 | 2079 | 607837 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | CLN8 CL E G H | 2055 | 1947 | | | | ORPHA | 1 | | 541 | 2079 | 607837 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | CLN8 CL E G H | 2055 | 600143 | Ceroid lipofuscinosis neuronal 8 | 600143 | C1838570 | OMIM | 1 | | 541 | 2079 | 607837 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | CLN8 CL E G H | 2055 | 600143 | Ceroid lipofuscinosis neuronal 8 | 600143 | C1838570 | OMIM | 1 | | 541 | 2079 | 607837 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | CLN8 CL E G H | 2055 | 600143 | Ceroid lipofuscinosis neuronal 8 | 600143 | C1838570 | OMIM | 1 | | 541 | 2079 | 607837 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | CLN8 CL E G H | 2055 | 600143 | Ceroid lipofuscinosis neuronal 8 | 600143 | C1838570 | OMIM | 1 | | 541 | 2079 | 607837 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | CLN8 CL E G H | 2055 | 600143 | Ceroid lipofuscinosis neuronal 8 | 600143 | C1838570 | OMIM | 1 | | 541 | 2079 | 607837 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | CLN8 CL E G H | 2055 | 600143 | Ceroid lipofuscinosis neuronal 8 | 600143 | C1838570 | OMIM | 1 | | 541 | 2079 | 607837 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | CLN8 CL E G H | 2055 | 610003 | Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant | 610003 | C1864923 | OMIM | 1 | | 541 | 2079 | 607837 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | CLN8 CL E G H | 2055 | 610003 | Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant | 610003 | C1864923 | OMIM | 1 | | 541 | 2079 | 607837 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | CLN8 CL E G H | 2055 | 610003 | Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant | 610003 | C1864923 | OMIM | 1 | | 541 | 2079 | 607837 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | CLN8 CL E G H | 2055 | 610003 | Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant | 610003 | C1864923 | OMIM | 1 | | 541 | 2079 | 607837 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | CLN8 CL E G H | 2055 | 610003 | Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant | 610003 | C1864923 | OMIM | 1 | | 541 | 2079 | 607837 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | CLN8 CL E G H | 2055 | 610003 | Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant | 610003 | C1864923 | OMIM | 1 | | 541 | 2079 | 607837 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | CNTN2 CL E G H | 6900 | 86814 | | | | ORPHA | 1 | | 518 | 2172 | 190197 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | CNTN2 CL E G H | 6900 | 86814 | | | | ORPHA | 1 | | 518 | 2172 | 190197 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | CNTN2 CL E G H | 6900 | 86814 | | | | ORPHA | 1 | | 518 | 2172 | 190197 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | CNTN2 CL E G H | 6900 | 86814 | | | | ORPHA | 1 | | 518 | 2172 | 190197 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | CNTN2 CL E G H | 6900 | 86814 | | | | ORPHA | 1 | | 518 | 2172 | 190197 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | CNTN2 CL E G H | 6900 | 86814 | | | | ORPHA | 1 | | 518 | 2172 | 190197 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | CNTNAP2 CL E G H | 26047 | 610042 | Pitt-Hopkins-like syndrome 1 | 610042 | C2750246 | OMIM | 1 | | 1634 | 13830 | 604569 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | CNTNAP2 CL E G H | 26047 | 610042 | Pitt-Hopkins-like syndrome 1 | 610042 | C2750246 | OMIM | 1 | | 1634 | 13830 | 604569 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | CNTNAP2 CL E G H | 26047 | 610042 | Pitt-Hopkins-like syndrome 1 | 610042 | C2750246 | OMIM | 1 | | 1634 | 13830 | 604569 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | CNTNAP2 CL E G H | 26047 | 610042 | Pitt-Hopkins-like syndrome 1 | 610042 | C2750246 | OMIM | 1 | | 1634 | 13830 | 604569 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | CNTNAP2 CL E G H | 26047 | 610042 | Pitt-Hopkins-like syndrome 1 | 610042 | C2750246 | OMIM | 1 | | 1634 | 13830 | 604569 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | CNTNAP2 CL E G H | 26047 | 610042 | Pitt-Hopkins-like syndrome 1 | 610042 | C2750246 | OMIM | 1 | | 1634 | 13830 | 604569 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1255 | 2348 | 600140 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1255 | 2348 | 600140 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1255 | 2348 | 600140 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1255 | 2348 | 600140 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1255 | 2348 | 600140 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1255 | 2348 | 600140 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | CTNNA2 CL E G H | 1496 | 618174 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 | 618174 | | OMIM | 1 | | 98 | 2510 | 114025 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | CTNNA2 CL E G H | 1496 | 618174 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 | 618174 | | OMIM | 1 | | 98 | 2510 | 114025 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | CTNNA2 CL E G H | 1496 | 618174 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 | 618174 | | OMIM | 1 | | 98 | 2510 | 114025 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | CTNNA2 CL E G H | 1496 | 618174 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 | 618174 | | OMIM | 1 | | 98 | 2510 | 114025 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | CTNNA2 CL E G H | 1496 | 618174 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 | 618174 | | OMIM | 1 | | 98 | 2510 | 114025 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | CTNNA2 CL E G H | 1496 | 618174 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 | 618174 | | OMIM | 1 | | 98 | 2510 | 114025 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | CTNND2 CL E G H | 1501 | 86814 | | | | ORPHA | 1 | | 313 | 2516 | 604275 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | CTNND2 CL E G H | 1501 | 86814 | | | | ORPHA | 1 | | 313 | 2516 | 604275 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | CTNND2 CL E G H | 1501 | 86814 | | | | ORPHA | 1 | | 313 | 2516 | 604275 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | CTNND2 CL E G H | 1501 | 86814 | | | | ORPHA | 1 | | 313 | 2516 | 604275 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | CTNND2 CL E G H | 1501 | 86814 | | | | ORPHA | 1 | | 313 | 2516 | 604275 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | CTNND2 CL E G H | 1501 | 86814 | | | | ORPHA | 1 | | 313 | 2516 | 604275 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 119 | 2718 | 600811 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 119 | 2718 | 600811 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 119 | 2718 | 600811 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 119 | 2718 | 600811 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 119 | 2718 | 600811 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 119 | 2718 | 600811 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | DEAF1 CL E G H | 10522 | 819 | | | | ORPHA | 1 | | 452 | 14677 | 602635 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | DEAF1 CL E G H | 10522 | 819 | | | | ORPHA | 1 | | 452 | 14677 | 602635 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | DEAF1 CL E G H | 10522 | 819 | | | | ORPHA | 1 | | 452 | 14677 | 602635 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | DEAF1 CL E G H | 10522 | 819 | | | | ORPHA | 1 | | 452 | 14677 | 602635 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | DEAF1 CL E G H | 10522 | 819 | | | | ORPHA | 1 | | 452 | 14677 | 602635 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | DEAF1 CL E G H | 10522 | 819 | | | | ORPHA | 1 | | 452 | 14677 | 602635 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 452 | 14677 | 602635 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 452 | 14677 | 602635 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 452 | 14677 | 602635 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 452 | 14677 | 602635 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 452 | 14677 | 602635 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 452 | 14677 | 602635 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | DENND5A CL E G H | 23258 | 617281 | Epileptic encephalopathy, early infantile, 49 | 617281 | C4310635 | OMIM | 1 | | 106 | 19344 | 617278 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | DENND5A CL E G H | 23258 | 617281 | Epileptic encephalopathy, early infantile, 49 | 617281 | C4310635 | OMIM | 1 | | 106 | 19344 | 617278 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | DENND5A CL E G H | 23258 | 617281 | Epileptic encephalopathy, early infantile, 49 | 617281 | C4310635 | OMIM | 1 | | 106 | 19344 | 617278 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | DENND5A CL E G H | 23258 | 617281 | Epileptic encephalopathy, early infantile, 49 | 617281 | C4310635 | OMIM | 1 | | 106 | 19344 | 617278 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | DENND5A CL E G H | 23258 | 617281 | Epileptic encephalopathy, early infantile, 49 | 617281 | C4310635 | OMIM | 1 | | 106 | 19344 | 617278 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | DENND5A CL E G H | 23258 | 617281 | Epileptic encephalopathy, early infantile, 49 | 617281 | C4310635 | OMIM | 1 | | 106 | 19344 | 617278 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | DHDDS CL E G H | 79947 | 617836 | DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES | 617836 | CN769090 | OMIM | 1 | | 318 | 20603 | 608172 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | DHDDS CL E G H | 79947 | 617836 | DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES | 617836 | CN769090 | OMIM | 1 | | 318 | 20603 | 608172 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | DHDDS CL E G H | 79947 | 617836 | DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES | 617836 | CN769090 | OMIM | 1 | | 318 | 20603 | 608172 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | DHDDS CL E G H | 79947 | 617836 | DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES | 617836 | CN769090 | OMIM | 1 | | 318 | 20603 | 608172 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | DHDDS CL E G H | 79947 | 617836 | DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES | 617836 | CN769090 | OMIM | 1 | | 318 | 20603 | 608172 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | DHDDS CL E G H | 79947 | 617836 | DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES | 617836 | CN769090 | OMIM | 1 | | 318 | 20603 | 608172 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | DPM1 CL E G H | 8813 | 608799 | Congenital disorder of glycosylation type 1E | 608799 | C1837396 | OMIM | 1 | | 203 | 3005 | 603503 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | DPM1 CL E G H | 8813 | 608799 | Congenital disorder of glycosylation type 1E | 608799 | C1837396 | OMIM | 1 | | 203 | 3005 | 603503 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | DPM1 CL E G H | 8813 | 608799 | Congenital disorder of glycosylation type 1E | 608799 | C1837396 | OMIM | 1 | | 203 | 3005 | 603503 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | DPM1 CL E G H | 8813 | 608799 | Congenital disorder of glycosylation type 1E | 608799 | C1837396 | OMIM | 1 | | 203 | 3005 | 603503 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | DPM1 CL E G H | 8813 | 608799 | Congenital disorder of glycosylation type 1E | 608799 | C1837396 | OMIM | 1 | | 203 | 3005 | 603503 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | DPM1 CL E G H | 8813 | 608799 | Congenital disorder of glycosylation type 1E | 608799 | C1837396 | OMIM | 1 | | 203 | 3005 | 603503 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | EIF2S3 CL E G H | 1968 | 85282 | | | | ORPHA | 1 | | 190 | 3267 | 300161 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | EIF2S3 CL E G H | 1968 | 85282 | | | | ORPHA | 1 | | 190 | 3267 | 300161 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | EIF2S3 CL E G H | 1968 | 85282 | | | | ORPHA | 1 | | 190 | 3267 | 300161 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | EIF2S3 CL E G H | 1968 | 85282 | | | | ORPHA | 1 | | 190 | 3267 | 300161 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | EIF2S3 CL E G H | 1968 | 85282 | | | | ORPHA | 1 | | 190 | 3267 | 300161 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | EIF2S3 CL E G H | 1968 | 85282 | | | | ORPHA | 1 | | 190 | 3267 | 300161 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 835 | 3373 | 602700 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 835 | 3373 | 602700 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 835 | 3373 | 602700 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 835 | 3373 | 602700 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 835 | 3373 | 602700 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 835 | 3373 | 602700 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | EPG5 CL E G H | 57724 | 1493 | Congenital mesoblastic nephroma | | | ORPHA | 1 | | 1213 | 29331 | 615068 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | EPG5 CL E G H | 57724 | 1493 | Congenital mesoblastic nephroma | | | ORPHA | 1 | | 1213 | 29331 | 615068 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | EPG5 CL E G H | 57724 | 1493 | Congenital mesoblastic nephroma | | | ORPHA | 1 | | 1213 | 29331 | 615068 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | EPG5 CL E G H | 57724 | 1493 | Congenital mesoblastic nephroma | | | ORPHA | 1 | | 1213 | 29331 | 615068 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | EPG5 CL E G H | 57724 | 1493 | Congenital mesoblastic nephroma | | | ORPHA | 1 | | 1213 | 29331 | 615068 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | EPG5 CL E G H | 57724 | 1493 | Congenital mesoblastic nephroma | | | ORPHA | 1 | | 1213 | 29331 | 615068 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | ERCC1 CL E G H | 2067 | 610758 | Cerebrooculofacioskeletal syndrome 4 | 610758 | C1853100 | OMIM | 1 | | 113 | 3433 | 126380 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | ERCC1 CL E G H | 2067 | 610758 | Cerebrooculofacioskeletal syndrome 4 | 610758 | C1853100 | OMIM | 1 | | 113 | 3433 | 126380 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | ERCC1 CL E G H | 2067 | 610758 | Cerebrooculofacioskeletal syndrome 4 | 610758 | C1853100 | OMIM | 1 | | 113 | 3433 | 126380 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | ERCC1 CL E G H | 2067 | 610758 | Cerebrooculofacioskeletal syndrome 4 | 610758 | C1853100 | OMIM | 1 | | 113 | 3433 | 126380 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | ERCC1 CL E G H | 2067 | 610758 | Cerebrooculofacioskeletal syndrome 4 | 610758 | C1853100 | OMIM | 1 | | 113 | 3433 | 126380 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | ERCC1 CL E G H | 2067 | 610758 | Cerebrooculofacioskeletal syndrome 4 | 610758 | C1853100 | OMIM | 1 | | 113 | 3433 | 126380 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 1196 | 3434 | 126340 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 1196 | 3434 | 126340 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 1196 | 3434 | 126340 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 1196 | 3434 | 126340 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 1196 | 3434 | 126340 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 1196 | 3434 | 126340 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 368 | 3435 | 133510 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 368 | 3435 | 133510 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 368 | 3435 | 133510 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 368 | 3435 | 133510 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 368 | 3435 | 133510 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 368 | 3435 | 133510 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 602 | 3436 | 133520 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 602 | 3436 | 133520 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 602 | 3436 | 133520 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 602 | 3436 | 133520 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 602 | 3436 | 133520 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 602 | 3436 | 133520 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 425 | 3437 | 133530 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 425 | 3437 | 133530 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 425 | 3437 | 133530 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 425 | 3437 | 133530 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 425 | 3437 | 133530 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 425 | 3437 | 133530 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | FARS2 CL E G H | 10667 | 614946 | Combined oxidative phosphorylation deficiency 14 | 614946 | C3554168 | OMIM | 1 | | 479 | 21062 | 611592 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | FARS2 CL E G H | 10667 | 614946 | Combined oxidative phosphorylation deficiency 14 | 614946 | C3554168 | OMIM | 1 | | 479 | 21062 | 611592 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | FARS2 CL E G H | 10667 | 614946 | Combined oxidative phosphorylation deficiency 14 | 614946 | C3554168 | OMIM | 1 | | 479 | 21062 | 611592 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | FARS2 CL E G H | 10667 | 614946 | Combined oxidative phosphorylation deficiency 14 | 614946 | C3554168 | OMIM | 1 | | 479 | 21062 | 611592 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | FARS2 CL E G H | 10667 | 614946 | Combined oxidative phosphorylation deficiency 14 | 614946 | C3554168 | OMIM | 1 | | 479 | 21062 | 611592 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | FARS2 CL E G H | 10667 | 614946 | Combined oxidative phosphorylation deficiency 14 | 614946 | C3554168 | OMIM | 1 | | 479 | 21062 | 611592 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | FKRP CL E G H | 79147 | 588 | | | | ORPHA | 1 | | 787 | 17997 | 606596 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | FKRP CL E G H | 79147 | 588 | | | | ORPHA | 1 | | 787 | 17997 | 606596 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | FKRP CL E G H | 79147 | 588 | | | | ORPHA | 1 | | 787 | 17997 | 606596 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | FKRP CL E G H | 79147 | 588 | | | | ORPHA | 1 | | 787 | 17997 | 606596 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | FKRP CL E G H | 79147 | 588 | | | | ORPHA | 1 | | 787 | 17997 | 606596 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | FKRP CL E G H | 79147 | 588 | | | | ORPHA | 1 | | 787 | 17997 | 606596 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | FKTN CL E G H | 2218 | 588 | | | | ORPHA | 1 | | 783 | 3622 | 607440 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | FKTN CL E G H | 2218 | 588 | | | | ORPHA | 1 | | 783 | 3622 | 607440 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | FKTN CL E G H | 2218 | 588 | | | | ORPHA | 1 | | 783 | 3622 | 607440 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | FKTN CL E G H | 2218 | 588 | | | | ORPHA | 1 | | 783 | 3622 | 607440 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | FKTN CL E G H | 2218 | 588 | | | | ORPHA | 1 | | 783 | 3622 | 607440 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | FKTN CL E G H | 2218 | 588 | | | | ORPHA | 1 | | 783 | 3622 | 607440 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | FKTN CL E G H | 2218 | 272 | VACTERL hydrocephaly | | | ORPHA | 1 | | 783 | 3622 | 607440 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | FKTN CL E G H | 2218 | 272 | VACTERL hydrocephaly | | | ORPHA | 1 | | 783 | 3622 | 607440 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | FKTN CL E G H | 2218 | 272 | VACTERL hydrocephaly | | | ORPHA | 1 | | 783 | 3622 | 607440 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | FKTN CL E G H | 2218 | 272 | VACTERL hydrocephaly | | | ORPHA | 1 | | 783 | 3622 | 607440 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | FKTN CL E G H | 2218 | 272 | VACTERL hydrocephaly | | | ORPHA | 1 | | 783 | 3622 | 607440 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | FKTN CL E G H | 2218 | 272 | VACTERL hydrocephaly | | | ORPHA | 1 | | 783 | 3622 | 607440 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | FLCN CL E G H | 201163 | 610883 | Chromosome 17, trisomy 17p11 2 | 610883 | C2931246 | OMIM | 1 | | 1833 | 27310 | 607273 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | FLCN CL E G H | 201163 | 610883 | Chromosome 17, trisomy 17p11 2 | 610883 | C2931246 | OMIM | 1 | | 1833 | 27310 | 607273 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | FLCN CL E G H | 201163 | 610883 | Chromosome 17, trisomy 17p11 2 | 610883 | C2931246 | OMIM | 1 | | 1833 | 27310 | 607273 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | FLCN CL E G H | 201163 | 610883 | Chromosome 17, trisomy 17p11 2 | 610883 | C2931246 | OMIM | 1 | | 1833 | 27310 | 607273 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | FLCN CL E G H | 201163 | 610883 | Chromosome 17, trisomy 17p11 2 | 610883 | C2931246 | OMIM | 1 | | 1833 | 27310 | 607273 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | FLCN CL E G H | 201163 | 610883 | Chromosome 17, trisomy 17p11 2 | 610883 | C2931246 | OMIM | 1 | | 1833 | 27310 | 607273 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | FLII CL E G H | 2314 | 819 | | | | ORPHA | 1 | | 154 | 3750 | 600362 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | FLII CL E G H | 2314 | 819 | | | | ORPHA | 1 | | 154 | 3750 | 600362 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | FLII CL E G H | 2314 | 819 | | | | ORPHA | 1 | | 154 | 3750 | 600362 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | FLII CL E G H | 2314 | 819 | | | | ORPHA | 1 | | 154 | 3750 | 600362 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | FLII CL E G H | 2314 | 819 | | | | ORPHA | 1 | | 154 | 3750 | 600362 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | FLII CL E G H | 2314 | 819 | | | | ORPHA | 1 | | 154 | 3750 | 600362 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | FOXG1 CL E G H | 2290 | 3095 | | | | ORPHA | 1 | | 614 | 3811 | 164874 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | FOXG1 CL E G H | 2290 | 3095 | | | | ORPHA | 1 | | 614 | 3811 | 164874 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | FOXG1 CL E G H | 2290 | 3095 | | | | ORPHA | 1 | | 614 | 3811 | 164874 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | FOXG1 CL E G H | 2290 | 3095 | | | | ORPHA | 1 | | 614 | 3811 | 164874 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | FOXG1 CL E G H | 2290 | 3095 | | | | ORPHA | 1 | | 614 | 3811 | 164874 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | FOXG1 CL E G H | 2290 | 3095 | | | | ORPHA | 1 | | 614 | 3811 | 164874 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | FOXG1 CL E G H | 2290 | 613454 | Rett syndrome, congenital variant | 613454 | C3150705 | OMIM | 1 | | 614 | 3811 | 164874 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | FOXG1 CL E G H | 2290 | 613454 | Rett syndrome, congenital variant | 613454 | C3150705 | OMIM | 1 | | 614 | 3811 | 164874 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | FOXG1 CL E G H | 2290 | 613454 | Rett syndrome, congenital variant | 613454 | C3150705 | OMIM | 1 | | 614 | 3811 | 164874 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | FOXG1 CL E G H | 2290 | 613454 | Rett syndrome, congenital variant | 613454 | C3150705 | OMIM | 1 | | 614 | 3811 | 164874 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | FOXG1 CL E G H | 2290 | 613454 | Rett syndrome, congenital variant | 613454 | C3150705 | OMIM | 1 | | 614 | 3811 | 164874 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | FOXG1 CL E G H | 2290 | 613454 | Rett syndrome, congenital variant | 613454 | C3150705 | OMIM | 1 | | 614 | 3811 | 164874 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | GABBR2 CL E G H | 9568 | 3095 | | | | ORPHA | 1 | | 682 | 4507 | 607340 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | GABBR2 CL E G H | 9568 | 3095 | | | | ORPHA | 1 | | 682 | 4507 | 607340 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | GABBR2 CL E G H | 9568 | 3095 | | | | ORPHA | 1 | | 682 | 4507 | 607340 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | GABBR2 CL E G H | 9568 | 3095 | | | | ORPHA | 1 | | 682 | 4507 | 607340 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | GABBR2 CL E G H | 9568 | 3095 | | | | ORPHA | 1 | | 682 | 4507 | 607340 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | GABBR2 CL E G H | 9568 | 3095 | | | | ORPHA | 1 | | 682 | 4507 | 607340 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | GABRA1 CL E G H | 2554 | 33069 | | | | ORPHA | 1 | | 519 | 4075 | 137160 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | GABRA1 CL E G H | 2554 | 33069 | | | | ORPHA | 1 | | 519 | 4075 | 137160 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | GABRA1 CL E G H | 2554 | 33069 | | | | ORPHA | 1 | | 519 | 4075 | 137160 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | GABRA1 CL E G H | 2554 | 33069 | | | | ORPHA | 1 | | 519 | 4075 | 137160 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | GABRA1 CL E G H | 2554 | 33069 | | | | ORPHA | 1 | | 519 | 4075 | 137160 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | GABRA1 CL E G H | 2554 | 33069 | | | | ORPHA | 1 | | 519 | 4075 | 137160 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | GABRB2 CL E G H | 2561 | 617829 | EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2 | 617829 | CN757794 | OMIM | 1 | | 421 | 4082 | 600232 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | GABRB2 CL E G H | 2561 | 617829 | EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2 | 617829 | CN757794 | OMIM | 1 | | 421 | 4082 | 600232 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | GABRB2 CL E G H | 2561 | 617829 | EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2 | 617829 | CN757794 | OMIM | 1 | | 421 | 4082 | 600232 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | GABRB2 CL E G H | 2561 | 617829 | EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2 | 617829 | CN757794 | OMIM | 1 | | 421 | 4082 | 600232 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | GABRB2 CL E G H | 2561 | 617829 | EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2 | 617829 | CN757794 | OMIM | 1 | | 421 | 4082 | 600232 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | GABRB2 CL E G H | 2561 | 617829 | EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2 | 617829 | CN757794 | OMIM | 1 | | 421 | 4082 | 600232 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | GABRD CL E G H | 2563 | 1606 | | | | ORPHA | 1 | | 397 | 4084 | 137163 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | GABRD CL E G H | 2563 | 1606 | | | | ORPHA | 1 | | 397 | 4084 | 137163 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | GABRD CL E G H | 2563 | 1606 | | | | ORPHA | 1 | | 397 | 4084 | 137163 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | GABRD CL E G H | 2563 | 1606 | | | | ORPHA | 1 | | 397 | 4084 | 137163 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | GABRD CL E G H | 2563 | 1606 | | | | ORPHA | 1 | | 397 | 4084 | 137163 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | GABRD CL E G H | 2563 | 1606 | | | | ORPHA | 1 | | 397 | 4084 | 137163 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | GABRG2 CL E G H | 2566 | 33069 | | | | ORPHA | 1 | | 528 | 4087 | 137164 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | GABRG2 CL E G H | 2566 | 33069 | | | | ORPHA | 1 | | 528 | 4087 | 137164 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | GABRG2 CL E G H | 2566 | 33069 | | | | ORPHA | 1 | | 528 | 4087 | 137164 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | GABRG2 CL E G H | 2566 | 33069 | | | | ORPHA | 1 | | 528 | 4087 | 137164 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | GABRG2 CL E G H | 2566 | 33069 | | | | ORPHA | 1 | | 528 | 4087 | 137164 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | GABRG2 CL E G H | 2566 | 33069 | | | | ORPHA | 1 | | 528 | 4087 | 137164 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | GALC CL E G H | 2581 | 245200 | Galactosylceramide beta-galactosidase deficiency | 245200 | C0023521 | OMIM | 1 | | 962 | 4115 | 606890 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | GALC CL E G H | 2581 | 245200 | Galactosylceramide beta-galactosidase deficiency | 245200 | C0023521 | OMIM | 1 | | 962 | 4115 | 606890 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | GALC CL E G H | 2581 | 245200 | Galactosylceramide beta-galactosidase deficiency | 245200 | C0023521 | OMIM | 1 | | 962 | 4115 | 606890 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | GALC CL E G H | 2581 | 245200 | Galactosylceramide beta-galactosidase deficiency | 245200 | C0023521 | OMIM | 1 | | 962 | 4115 | 606890 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | GALC CL E G H | 2581 | 245200 | Galactosylceramide beta-galactosidase deficiency | 245200 | C0023521 | OMIM | 1 | | 962 | 4115 | 606890 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | GALC CL E G H | 2581 | 245200 | Galactosylceramide beta-galactosidase deficiency | 245200 | C0023521 | OMIM | 1 | | 962 | 4115 | 606890 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | GMPPB CL E G H | 29925 | 588 | | | | ORPHA | 1 | | 273 | 22932 | 615320 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | GMPPB CL E G H | 29925 | 588 | | | | ORPHA | 1 | | 273 | 22932 | 615320 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | GMPPB CL E G H | 29925 | 588 | | | | ORPHA | 1 | | 273 | 22932 | 615320 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | GMPPB CL E G H | 29925 | 588 | | | | ORPHA | 1 | | 273 | 22932 | 615320 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | GMPPB CL E G H | 29925 | 588 | | | | ORPHA | 1 | | 273 | 22932 | 615320 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | GMPPB CL E G H | 29925 | 588 | | | | ORPHA | 1 | | 273 | 22932 | 615320 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | GNB1 CL E G H | 2782 | 616973 | Mental retardation, autosomal dominant 42 | 616973 | C4310774 | OMIM | 1 | | 310 | 4396 | 139380 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | GNB1 CL E G H | 2782 | 616973 | Mental retardation, autosomal dominant 42 | 616973 | C4310774 | OMIM | 1 | | 310 | 4396 | 139380 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | GNB1 CL E G H | 2782 | 616973 | Mental retardation, autosomal dominant 42 | 616973 | C4310774 | OMIM | 1 | | 310 | 4396 | 139380 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | GNB1 CL E G H | 2782 | 616973 | Mental retardation, autosomal dominant 42 | 616973 | C4310774 | OMIM | 1 | | 310 | 4396 | 139380 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | GNB1 CL E G H | 2782 | 616973 | Mental retardation, autosomal dominant 42 | 616973 | C4310774 | OMIM | 1 | | 310 | 4396 | 139380 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | GNB1 CL E G H | 2782 | 616973 | Mental retardation, autosomal dominant 42 | 616973 | C4310774 | OMIM | 1 | | 310 | 4396 | 139380 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | GPAA1 CL E G H | 8733 | 617810 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 | 617810 | C4540520 | OMIM | 1 | | 353 | 4446 | 603048 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | GPAA1 CL E G H | 8733 | 617810 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 | 617810 | C4540520 | OMIM | 1 | | 353 | 4446 | 603048 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | GPAA1 CL E G H | 8733 | 617810 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 | 617810 | C4540520 | OMIM | 1 | | 353 | 4446 | 603048 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | GPAA1 CL E G H | 8733 | 617810 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 | 617810 | C4540520 | OMIM | 1 | | 353 | 4446 | 603048 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | GPAA1 CL E G H | 8733 | 617810 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 | 617810 | C4540520 | OMIM | 1 | | 353 | 4446 | 603048 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | GPAA1 CL E G H | 8733 | 617810 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 | 617810 | C4540520 | OMIM | 1 | | 353 | 4446 | 603048 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | GRIN1 CL E G H | 2902 | 614254 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | 614254 | C3280282 | OMIM | 1 | | 735 | 4584 | 138249 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | GRIN1 CL E G H | 2902 | 614254 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | 614254 | C3280282 | OMIM | 1 | | 735 | 4584 | 138249 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | GRIN1 CL E G H | 2902 | 614254 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | 614254 | C3280282 | OMIM | 1 | | 735 | 4584 | 138249 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | GRIN1 CL E G H | 2902 | 614254 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | 614254 | C3280282 | OMIM | 1 | | 735 | 4584 | 138249 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | GRIN1 CL E G H | 2902 | 614254 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | 614254 | C3280282 | OMIM | 1 | | 735 | 4584 | 138249 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | GRIN1 CL E G H | 2902 | 614254 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | 614254 | C3280282 | OMIM | 1 | | 735 | 4584 | 138249 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | GRIN2B CL E G H | 2904 | 613970 | Mental retardation, autosomal dominant 6 | 613970 | C3151411 | OMIM | 1 | | 1124 | 4586 | 138252 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | GRIN2B CL E G H | 2904 | 613970 | Mental retardation, autosomal dominant 6 | 613970 | C3151411 | OMIM | 1 | | 1124 | 4586 | 138252 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | GRIN2B CL E G H | 2904 | 613970 | Mental retardation, autosomal dominant 6 | 613970 | C3151411 | OMIM | 1 | | 1124 | 4586 | 138252 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | GRIN2B CL E G H | 2904 | 613970 | Mental retardation, autosomal dominant 6 | 613970 | C3151411 | OMIM | 1 | | 1124 | 4586 | 138252 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | GRIN2B CL E G H | 2904 | 613970 | Mental retardation, autosomal dominant 6 | 613970 | C3151411 | OMIM | 1 | | 1124 | 4586 | 138252 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | GRIN2B CL E G H | 2904 | 613970 | Mental retardation, autosomal dominant 6 | 613970 | C3151411 | OMIM | 1 | | 1124 | 4586 | 138252 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | GRN CL E G H | 2896 | 614706 | Ceroid lipofuscinosis, neuronal, 11 | 614706 | C3539123 | OMIM | 1 | | 417 | 4601 | 138945 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | GRN CL E G H | 2896 | 614706 | Ceroid lipofuscinosis, neuronal, 11 | 614706 | C3539123 | OMIM | 1 | | 417 | 4601 | 138945 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | GRN CL E G H | 2896 | 614706 | Ceroid lipofuscinosis, neuronal, 11 | 614706 | C3539123 | OMIM | 1 | | 417 | 4601 | 138945 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | GRN CL E G H | 2896 | 614706 | Ceroid lipofuscinosis, neuronal, 11 | 614706 | C3539123 | OMIM | 1 | | 417 | 4601 | 138945 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | GRN CL E G H | 2896 | 614706 | Ceroid lipofuscinosis, neuronal, 11 | 614706 | C3539123 | OMIM | 1 | | 417 | 4601 | 138945 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | GRN CL E G H | 2896 | 614706 | Ceroid lipofuscinosis, neuronal, 11 | 614706 | C3539123 | OMIM | 1 | | 417 | 4601 | 138945 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | HECW2 CL E G H | 57520 | 617268 | Neurodevelopmental disorder with hypotonia, seizures, and absent language | 617268 | C4310643 | OMIM | 1 | | 239 | 29853 | 617245 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | HECW2 CL E G H | 57520 | 617268 | Neurodevelopmental disorder with hypotonia, seizures, and absent language | 617268 | C4310643 | OMIM | 1 | | 239 | 29853 | 617245 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | HECW2 CL E G H | 57520 | 617268 | Neurodevelopmental disorder with hypotonia, seizures, and absent language | 617268 | C4310643 | OMIM | 1 | | 239 | 29853 | 617245 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | HECW2 CL E G H | 57520 | 617268 | Neurodevelopmental disorder with hypotonia, seizures, and absent language | 617268 | C4310643 | OMIM | 1 | | 239 | 29853 | 617245 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | HECW2 CL E G H | 57520 | 617268 | Neurodevelopmental disorder with hypotonia, seizures, and absent language | 617268 | C4310643 | OMIM | 1 | | 239 | 29853 | 617245 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | HECW2 CL E G H | 57520 | 617268 | Neurodevelopmental disorder with hypotonia, seizures, and absent language | 617268 | C4310643 | OMIM | 1 | | 239 | 29853 | 617245 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | HIC1 CL E G H | 3090 | 531 | Acute myeloblastic leukemia type 6 | | | ORPHA | 1 | | 73 | 4909 | 603825 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | HIC1 CL E G H | 3090 | 531 | Acute myeloblastic leukemia type 6 | | | ORPHA | 1 | | 73 | 4909 | 603825 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | HIC1 CL E G H | 3090 | 531 | Acute myeloblastic leukemia type 6 | | | ORPHA | 1 | | 73 | 4909 | 603825 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | HIC1 CL E G H | 3090 | 531 | Acute myeloblastic leukemia type 6 | | | ORPHA | 1 | | 73 | 4909 | 603825 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | HIC1 CL E G H | 3090 | 531 | Acute myeloblastic leukemia type 6 | | | ORPHA | 1 | | 73 | 4909 | 603825 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | HIC1 CL E G H | 3090 | 531 | Acute myeloblastic leukemia type 6 | | | ORPHA | 1 | | 73 | 4909 | 603825 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | HMGCL CL E G H | 3155 | 246450 | Deficiency of hydroxymethylglutaryl-CoA lyase | 246450 | C0268601 | OMIM | 1 | | 327 | 5005 | 613898 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | HMGCL CL E G H | 3155 | 246450 | Deficiency of hydroxymethylglutaryl-CoA lyase | 246450 | C0268601 | OMIM | 1 | | 327 | 5005 | 613898 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | HMGCL CL E G H | 3155 | 246450 | Deficiency of hydroxymethylglutaryl-CoA lyase | 246450 | C0268601 | OMIM | 1 | | 327 | 5005 | 613898 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | HMGCL CL E G H | 3155 | 246450 | Deficiency of hydroxymethylglutaryl-CoA lyase | 246450 | C0268601 | OMIM | 1 | | 327 | 5005 | 613898 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | HMGCL CL E G H | 3155 | 246450 | Deficiency of hydroxymethylglutaryl-CoA lyase | 246450 | C0268601 | OMIM | 1 | | 327 | 5005 | 613898 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | HMGCL CL E G H | 3155 | 246450 | Deficiency of hydroxymethylglutaryl-CoA lyase | 246450 | C0268601 | OMIM | 1 | | 327 | 5005 | 613898 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | HNRNPU CL E G H | 3192 | 617391 | Epileptic encephalopathy, early infantile, 54 | 617391 | C4479319 | OMIM | 1 | | 692 | 5048 | 602869 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | HNRNPU CL E G H | 3192 | 617391 | Epileptic encephalopathy, early infantile, 54 | 617391 | C4479319 | OMIM | 1 | | 692 | 5048 | 602869 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | HNRNPU CL E G H | 3192 | 617391 | Epileptic encephalopathy, early infantile, 54 | 617391 | C4479319 | OMIM | 1 | | 692 | 5048 | 602869 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | HNRNPU CL E G H | 3192 | 617391 | Epileptic encephalopathy, early infantile, 54 | 617391 | C4479319 | OMIM | 1 | | 692 | 5048 | 602869 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | HNRNPU CL E G H | 3192 | 617391 | Epileptic encephalopathy, early infantile, 54 | 617391 | C4479319 | OMIM | 1 | | 692 | 5048 | 602869 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | HNRNPU CL E G H | 3192 | 617391 | Epileptic encephalopathy, early infantile, 54 | 617391 | C4479319 | OMIM | 1 | | 692 | 5048 | 602869 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | HRAS CL E G H | 3265 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 1 | | 547 | 5173 | 190020 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | HRAS CL E G H | 3265 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 1 | | 547 | 5173 | 190020 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | HRAS CL E G H | 3265 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 1 | | 547 | 5173 | 190020 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | HRAS CL E G H | 3265 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 1 | | 547 | 5173 | 190020 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | HRAS CL E G H | 3265 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 1 | | 547 | 5173 | 190020 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | HRAS CL E G H | 3265 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 1 | | 547 | 5173 | 190020 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | HTT CL E G H | 3064 | 399 | 46,XX testicular disorder of sex development | | C2936420 | ORPHA | 1 | | 735 | 4851 | 613004 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | HTT CL E G H | 3064 | 399 | 46,XX testicular disorder of sex development | | C2936420 | ORPHA | 1 | | 735 | 4851 | 613004 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | HTT CL E G H | 3064 | 399 | 46,XX testicular disorder of sex development | | C2936420 | ORPHA | 1 | | 735 | 4851 | 613004 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | HTT CL E G H | 3064 | 399 | 46,XX testicular disorder of sex development | | C2936420 | ORPHA | 1 | | 735 | 4851 | 613004 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | HTT CL E G H | 3064 | 399 | 46,XX testicular disorder of sex development | | C2936420 | ORPHA | 1 | | 735 | 4851 | 613004 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | HTT CL E G H | 3064 | 399 | 46,XX testicular disorder of sex development | | C2936420 | ORPHA | 1 | | 735 | 4851 | 613004 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | IQSEC2 CL E G H | 23096 | 819 | | | | ORPHA | 1 | | 955 | 29059 | 300522 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | IQSEC2 CL E G H | 23096 | 819 | | | | ORPHA | 1 | | 955 | 29059 | 300522 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | IQSEC2 CL E G H | 23096 | 819 | | | | ORPHA | 1 | | 955 | 29059 | 300522 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | IQSEC2 CL E G H | 23096 | 819 | | | | ORPHA | 1 | | 955 | 29059 | 300522 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | IQSEC2 CL E G H | 23096 | 819 | | | | ORPHA | 1 | | 955 | 29059 | 300522 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | IQSEC2 CL E G H | 23096 | 819 | | | | ORPHA | 1 | | 955 | 29059 | 300522 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | ITGB6 CL E G H | 3694 | 2850 | | | | ORPHA | 1 | | 95 | 6161 | 147558 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | ITGB6 CL E G H | 3694 | 2850 | | | | ORPHA | 1 | | 95 | 6161 | 147558 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | ITGB6 CL E G H | 3694 | 2850 | | | | ORPHA | 1 | | 95 | 6161 | 147558 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | ITGB6 CL E G H | 3694 | 2850 | | | | ORPHA | 1 | | 95 | 6161 | 147558 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | ITGB6 CL E G H | 3694 | 2850 | | | | ORPHA | 1 | | 95 | 6161 | 147558 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | ITGB6 CL E G H | 3694 | 2850 | | | | ORPHA | 1 | | 95 | 6161 | 147558 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | KCNAB2 CL E G H | 8514 | 1606 | | | | ORPHA | 1 | | 91 | 6229 | 601142 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | KCNAB2 CL E G H | 8514 | 1606 | | | | ORPHA | 1 | | 91 | 6229 | 601142 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | KCNAB2 CL E G H | 8514 | 1606 | | | | ORPHA | 1 | | 91 | 6229 | 601142 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | KCNAB2 CL E G H | 8514 | 1606 | | | | ORPHA | 1 | | 91 | 6229 | 601142 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | KCNAB2 CL E G H | 8514 | 1606 | | | | ORPHA | 1 | | 91 | 6229 | 601142 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | KCNAB2 CL E G H | 8514 | 1606 | | | | ORPHA | 1 | | 91 | 6229 | 601142 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | KCNMA1 CL E G H | 3778 | 617643 | CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES | 617643 | C4539985 | OMIM | 1 | | 868 | 6284 | 600150 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | KCNMA1 CL E G H | 3778 | 617643 | CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES | 617643 | C4539985 | OMIM | 1 | | 868 | 6284 | 600150 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | KCNMA1 CL E G H | 3778 | 617643 | CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES | 617643 | C4539985 | OMIM | 1 | | 868 | 6284 | 600150 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | KCNMA1 CL E G H | 3778 | 617643 | CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES | 617643 | C4539985 | OMIM | 1 | | 868 | 6284 | 600150 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | KCNMA1 CL E G H | 3778 | 617643 | CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES | 617643 | C4539985 | OMIM | 1 | | 868 | 6284 | 600150 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | KCNMA1 CL E G H | 3778 | 617643 | CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES | 617643 | C4539985 | OMIM | 1 | | 868 | 6284 | 600150 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | KRAS CL E G H | 3845 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 440 | 6407 | 190070 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | KRAS CL E G H | 3845 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 440 | 6407 | 190070 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | KRAS CL E G H | 3845 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 440 | 6407 | 190070 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | KRAS CL E G H | 3845 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 440 | 6407 | 190070 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | KRAS CL E G H | 3845 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 440 | 6407 | 190070 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | KRAS CL E G H | 3845 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 440 | 6407 | 190070 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | KRAS CL E G H | 3845 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 1 | | 440 | 6407 | 190070 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | KRAS CL E G H | 3845 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 1 | | 440 | 6407 | 190070 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | KRAS CL E G H | 3845 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 1 | | 440 | 6407 | 190070 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | KRAS CL E G H | 3845 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 1 | | 440 | 6407 | 190070 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | KRAS CL E G H | 3845 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 1 | | 440 | 6407 | 190070 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | KRAS CL E G H | 3845 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 1 | | 440 | 6407 | 190070 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | LAGE3 CL E G H | 8270 | 2065 | | | | ORPHA | 1 | | 233 | 26058 | 300060 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | LAGE3 CL E G H | 8270 | 2065 | | | | ORPHA | 1 | | 233 | 26058 | 300060 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | LAGE3 CL E G H | 8270 | 2065 | | | | ORPHA | 1 | | 233 | 26058 | 300060 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | LAGE3 CL E G H | 8270 | 2065 | | | | ORPHA | 1 | | 233 | 26058 | 300060 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | LAGE3 CL E G H | 8270 | 2065 | | | | ORPHA | 1 | | 233 | 26058 | 300060 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | LAGE3 CL E G H | 8270 | 2065 | | | | ORPHA | 1 | | 233 | 26058 | 300060 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | LAMC3 CL E G H | 10319 | 614115 | Cortical malformations, occipital | 614115 | C3279875 | OMIM | 1 | | 1071 | 6494 | 604349 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | LAMC3 CL E G H | 10319 | 614115 | Cortical malformations, occipital | 614115 | C3279875 | OMIM | 1 | | 1071 | 6494 | 604349 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | LAMC3 CL E G H | 10319 | 614115 | Cortical malformations, occipital | 614115 | C3279875 | OMIM | 1 | | 1071 | 6494 | 604349 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | LAMC3 CL E G H | 10319 | 614115 | Cortical malformations, occipital | 614115 | C3279875 | OMIM | 1 | | 1071 | 6494 | 604349 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | LAMC3 CL E G H | 10319 | 614115 | Cortical malformations, occipital | 614115 | C3279875 | OMIM | 1 | | 1071 | 6494 | 604349 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | LAMC3 CL E G H | 10319 | 614115 | Cortical malformations, occipital | 614115 | C3279875 | OMIM | 1 | | 1071 | 6494 | 604349 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | LARGE1 CL E G H | 9215 | 588 | | | | ORPHA | 1 | | 658 | 6511 | 603590 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | LARGE1 CL E G H | 9215 | 588 | | | | ORPHA | 1 | | 658 | 6511 | 603590 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | LARGE1 CL E G H | 9215 | 588 | | | | ORPHA | 1 | | 658 | 6511 | 603590 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | LARGE1 CL E G H | 9215 | 588 | | | | ORPHA | 1 | | 658 | 6511 | 603590 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | LARGE1 CL E G H | 9215 | 588 | | | | ORPHA | 1 | | 658 | 6511 | 603590 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | LARGE1 CL E G H | 9215 | 588 | | | | ORPHA | 1 | | 658 | 6511 | 603590 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | LARS2 CL E G H | 23395 | 617021 | Hydrops, lactic acidosis, and sideroblastic anemia | 617021 | C4310761 | OMIM | 1 | | 267 | 17095 | 604544 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | LARS2 CL E G H | 23395 | 617021 | Hydrops, lactic acidosis, and sideroblastic anemia | 617021 | C4310761 | OMIM | 1 | | 267 | 17095 | 604544 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | LARS2 CL E G H | 23395 | 617021 | Hydrops, lactic acidosis, and sideroblastic anemia | 617021 | C4310761 | OMIM | 1 | | 267 | 17095 | 604544 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | LARS2 CL E G H | 23395 | 617021 | Hydrops, lactic acidosis, and sideroblastic anemia | 617021 | C4310761 | OMIM | 1 | | 267 | 17095 | 604544 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | LARS2 CL E G H | 23395 | 617021 | Hydrops, lactic acidosis, and sideroblastic anemia | 617021 | C4310761 | OMIM | 1 | | 267 | 17095 | 604544 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | LARS2 CL E G H | 23395 | 617021 | Hydrops, lactic acidosis, and sideroblastic anemia | 617021 | C4310761 | OMIM | 1 | | 267 | 17095 | 604544 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | LIPT2 CL E G H | 387787 | 617668 | ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES | 617668 | C4540052 | OMIM | 1 | | 61 | 37216 | 617659 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | LIPT2 CL E G H | 387787 | 617668 | ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES | 617668 | C4540052 | OMIM | 1 | | 61 | 37216 | 617659 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | LIPT2 CL E G H | 387787 | 617668 | ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES | 617668 | C4540052 | OMIM | 1 | | 61 | 37216 | 617659 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | LIPT2 CL E G H | 387787 | 617668 | ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES | 617668 | C4540052 | OMIM | 1 | | 61 | 37216 | 617659 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | LIPT2 CL E G H | 387787 | 617668 | ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES | 617668 | C4540052 | OMIM | 1 | | 61 | 37216 | 617659 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | LIPT2 CL E G H | 387787 | 617668 | ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES | 617668 | C4540052 | OMIM | 1 | | 61 | 37216 | 617659 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | MAP2K1 CL E G H | 5604 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 398 | 6840 | 176872 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | MAP2K1 CL E G H | 5604 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 398 | 6840 | 176872 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | MAP2K1 CL E G H | 5604 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 398 | 6840 | 176872 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | MAP2K1 CL E G H | 5604 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 398 | 6840 | 176872 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | MAP2K1 CL E G H | 5604 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 398 | 6840 | 176872 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | MAP2K1 CL E G H | 5604 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 398 | 6840 | 176872 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | MAP2K2 CL E G H | 5605 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 599 | 6842 | 601263 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | MAP2K2 CL E G H | 5605 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 599 | 6842 | 601263 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | MAP2K2 CL E G H | 5605 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 599 | 6842 | 601263 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | MAP2K2 CL E G H | 5605 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 599 | 6842 | 601263 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | MAP2K2 CL E G H | 5605 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 599 | 6842 | 601263 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | MAP2K2 CL E G H | 5605 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 599 | 6842 | 601263 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | MCOLN1 CL E G H | 57192 | 578 | Akesson syndrome | | | ORPHA | 1 | | 538 | 13356 | 605248 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | MCOLN1 CL E G H | 57192 | 578 | Akesson syndrome | | | ORPHA | 1 | | 538 | 13356 | 605248 |
HP:0002353 | HP:0011176 | EEG with constitutional variants | 1 | MCOLN1 CL E G H | 57192 | 578 | Akesson syndrome | | | ORPHA | 1 | | 538 | 13356 | 605248 |
HP:0002353 | HP:0011202 | EEG with diffuse acceleration | 1 | MCOLN1 CL E G H | 57192 | 578 | Akesson syndrome | | | ORPHA | 1 | | 538 | 13356 | 605248 |
HP:0002353 | HP:0010852 | EEG with photoparoxysmal response | 1 | MCOLN1 CL E G H | 57192 | 578 | Akesson syndrome | | | ORPHA | 1 | | 538 | 13356 | 605248 |
HP:0002353 | HP:0025373 | Interictal EEG abnormality | 1 | MCOLN1 CL E G H | 57192 | 578 | Akesson syndrome | | | ORPHA | 1 | | 538 | 13356 | 605248 |
HP:0002353 | HP:0011203 | EEG with abnormally slow frequencies | 1 | MECP2 CL E G H | 4204 | 778 | | | | ORPHA | 1 | | 1778 | 6990 | 300005 |
HP:0002353 | HP:0011201 | EEG with changes in voltage | 1 | MECP2 CL E G H | 4204 | 778 | < |