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:0001298 | HP:0001298 | Encephalopathy | 0 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 1 | | | 20 | 601065 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | AARS CL E G H | 16 | 616339 | Epileptic encephalopathy, early infantile, 29 | 616339 | C4225361 | OMIM | 1 | | | 20 | 601065 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | ACAD9 CL E G H | 28976 | 99901 | | | | ORPHA | 1 | | 771 | 21497 | 611103 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | ACAD9 CL E G H | 28976 | 611126 | Acyl-CoA dehydrogenase family, member 9, deficiency of | 611126 | C1970173 | OMIM | 1 | | 771 | 21497 | 611103 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | ACY1 CL E G H | 95 | 137754 | | | | ORPHA | 1 | | 153 | 177 | 104620 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | AMT CL E G H | 275 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 591 | 473 | 238310 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 1 | | 690 | 567 | 602166 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 1 | | 89 | 29561 | 611647 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | ASNS CL E G H | 440 | 615574 | Asparagine synthetase deficiency | 615574 | C3809971 | OMIM | 1 | | 586 | 753 | 108370 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | ATAD1 CL E G H | 84896 | 618011 | HYPEREKPLEXIA 4 | 618011 | CN248518 | OMIM | 1 | | 183 | 25903 | 614452 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | ATP1A3 CL E G H | 478 | 1171 | | | | ORPHA | 1 | | 993 | 801 | 182350 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | ATP5F1A CL E G H | 498 | 616045 | Combined oxidative phosphorylation deficiency 22 | 616045 | C4015062 | OMIM | 1 | | 209 | 823 | 164360 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | ATP5F1A CL E G H | 498 | 615228 | Mitochondrial complex v (atp synthase) deficiency, nuclear type 4 | 615228 | C3808899 | OMIM | 1 | | 209 | 823 | 164360 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | ATP5F1D CL E G H | 513 | 618120 | MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 | 618120 | CN253835 | OMIM | 1 | | 122 | 837 | 603150 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 1 | | 229 | 851 | 607027 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | BSCL2 CL E G H | 26580 | 615924 | Encephalopathy, progressive, with or without lipodystrophy | 615924 | C4014700 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 1 | | 3248 | 1388 | 601011 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | CHD2 CL E G H | 1106 | 2382 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | CLP1 CL E G H | 10978 | 615803 | Pontocerebellar hypoplasia, type 10 | 615803 | C4014347 | OMIM | 1 | | 97 | 16999 | 608757 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 1 | | 645 | 2092 | 118955 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 1 | | 306 | 19701 | 300724 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | COG8 CL E G H | 84342 | 611182 | Congenital disorder of glycosylation type 2H | 611182 | C1970021 | OMIM | 1 | | 245 | 18623 | 606979 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | COQ2 CL E G H | 27235 | 607426 | Coenzyme Q10 deficiency, primary 1 | 607426 | C1843920 | OMIM | 1 | | 346 | 25223 | 609825 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | COQ9 CL E G H | 57017 | 614654 | Coenzyme Q10 deficiency, primary, 5 | 614654 | C3553374 | OMIM | 1 | | 276 | 25302 | 612837 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | COX15 CL E G H | 1355 | 615119 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | 615119 | C3554534 | OMIM | 1 | | 357 | 2263 | 603646 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | CUX2 CL E G H | 23316 | 2382 | | | | ORPHA | 1 | | 227 | 19347 | 610648 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | CYC1 CL E G H | 1537 | 615453 | Mitochondrial complex III deficiency, nuclear type 6 | 615453 | C3809553 | OMIM | 1 | | 161 | 2579 | 123980 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 1 | | 668 | 13760 | 606323 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | DGUOK CL E G H | 1716 | 251880 | Mitochondrial DNA-depletion syndrome 3, hepatocerebral | 251880 | C3151513 | OMIM | 1 | | 239 | 2858 | 601465 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 1 | | 434 | 20603 | 608172 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | DLD CL E G H | 1738 | 246900 | Maple syrup urine disease, type 3 | 246900 | CN043137 | OMIM | 1 | | 520 | 2898 | 238331 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | DNM1 CL E G H | 1759 | 2382 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | DNM1L CL E G H | 10059 | 614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | 614388 | C3280660 | OMIM | 1 | | 591 | 2973 | 603850 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 1 | | 575 | 3192 | 602959 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | ETHE1 CL E G H | 23474 | 51188 | | | | ORPHA | 1 | | 338 | 23287 | 608451 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | ETHE1 CL E G H | 23474 | 602473 | Ethylmalonic encephalopathy | 602473 | C1865349 | OMIM | 1 | | 338 | 23287 | 608451 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | FADD CL E G H | 8772 | 306550 | | | | ORPHA | 1 | | 110 | 3573 | 602457 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | FADD CL E G H | 8772 | 613759 | Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations | 613759 | C3151062 | OMIM | 1 | | 110 | 3573 | 602457 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | FBXL4 CL E G H | 26235 | 615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | 615471 | C3809592 | OMIM | 1 | | 566 | 13601 | 605654 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 1 | | 259 | 3668 | 601513 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 1 | | 494 | 4082 | 600232 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | GABRB3 CL E G H | 2562 | 2382 | | | | ORPHA | 1 | | 838 | 4083 | 137192 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | GBA CL E G H | 2629 | 77260 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | GBA CL E G H | 2629 | 77261 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | GCDH CL E G H | 2639 | 25 | | | | ORPHA | 1 | | 720 | 4189 | 608801 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | GCSH CL E G H | 2653 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 176 | 4208 | 238330 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | GLDC CL E G H | 2731 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 2238 | 4313 | 238300 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | GLUL CL E G H | 2752 | 610015 | Glutamine deficiency, congenital | 610015 | C1864910 | OMIM | 1 | | 256 | 4341 | 138290 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | GLYCTK CL E G H | 132158 | 220120 | Deficiency of glycerate kinase | 220120 | C1291386 | OMIM | 1 | | 166 | 24247 | 610516 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | GPT2 CL E G H | 84706 | 616281 | Mental retardation, autosomal recessive 49 | 616281 | C4225388 | OMIM | 1 | | 109 | 18062 | 138210 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 1 | | 823 | 4588 | 602717 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 1 | | 796 | 4845 | 602780 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 271 | 27302 | 615316 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | ITPA CL E G H | 3704 | 616647 | Epileptic encephalopathy, early infantile, 35 | 616647 | C4225256 | OMIM | 1 | | 319 | 6176 | 147520 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 1 | | 401 | 6220 | 176262 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 1 | | 635 | 6231 | 600397 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | KYNU CL E G H | 8942 | 79155 | | | | ORPHA | 1 | | 81 | 6469 | 605197 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | LIAS CL E G H | 11019 | 614462 | Pyruvate dehydrogenase lipoic acid synthetase deficiency | 614462 | C3280887 | OMIM | 1 | | 410 | 16429 | 607031 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | LIPT2 CL E G H | 387787 | 617668 | ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES | 617668 | C4540052 | OMIM | 1 | | 113 | 37216 | 617659 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | LYRM7 CL E G H | 90624 | 615838 | Mitochondrial complex III deficiency, nuclear type 8 | 615838 | C4014440 | OMIM | 1 | | 92 | 28072 | 615831 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | MAPK10 CL E G H | 5602 | 2382 | | | | ORPHA | 1 | | 70 | 6872 | 602897 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | MECP2 CL E G H | 4204 | 300673 | Severe neonatal-onset encephalopathy with microcephaly | 300673 | C1968556 | OMIM | 1 | | 1925 | 6990 | 300005 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | MT-CO1 CL E G H | 4512 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7419 | 516030 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | MT-CO2 CL E G H | 4513 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7421 | 516040 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | MT-CO3 CL E G H | 4514 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7422 | 516050 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | MT-CYB CL E G H | 4519 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7427 | 516020 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | MT-ND1 CL E G H | 4535 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7455 | 516000 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | MT-ND5 CL E G H | 4540 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7461 | 516005 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | MT-ND6 CL E G H | 4541 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7462 | 516006 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | MT-TC CL E G H | 4511 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7477 | 590020 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | MT-TF CL E G H | 4558 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7481 | 590070 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | MT-TK CL E G H | 4566 | 1349 | Chromosome 9, partial monosomy 9p | | C2931695 | ORPHA | 1 | | | 7489 | 590060 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | MT-TK CL E G H | 4566 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7489 | 590060 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | MT-TL1 CL E G H | 4567 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7490 | 590050 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | MT-TQ CL E G H | 4572 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7495 | 590030 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | MT-TS1 CL E G H | 4574 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7497 | 590080 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | MT-TS2 CL E G H | 4575 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7498 | 590085 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | MT-TV CL E G H | 4577 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7500 | 590105 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | MT-TW CL E G H | 4578 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7501 | 590095 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | NADK2 CL E G H | 133686 | 616034 | 2,4-Dienoyl-CoA reductase deficiency | 616034 | C1857252 | OMIM | 1 | | 221 | 26404 | 615787 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | NAXE CL E G H | 128240 | 617186 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy | 617186 | C4310675 | OMIM | 1 | | 146 | 18453 | 608862 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | NDUFA11 CL E G H | 126328 | 618236 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 | 618236 | | OMIM | 1 | | 131 | 20371 | 612638 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | NDUFA6 CL E G H | 4700 | 618253 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 | 618253 | | OMIM | 1 | | 90 | 7690 | 602138 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | NDUFAF1 CL E G H | 51103 | 618234 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 | 618234 | | OMIM | 1 | | 154 | 18828 | 606934 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | NDUFAF2 CL E G H | 91942 | 618233 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 | 618233 | | OMIM | 1 | | 132 | 28086 | 609653 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | NDUFAF4 CL E G H | 29078 | 618237 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15 | 618237 | | OMIM | 1 | | 136 | 21034 | 611776 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | NDUFB3 CL E G H | 4709 | 618246 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 | 618246 | | OMIM | 1 | | 79 | 7698 | 603839 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | NDUFS3 CL E G H | 4722 | 618230 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 | 618230 | | OMIM | 1 | | 147 | 7710 | 603846 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | NDUFS6 CL E G H | 4726 | 618232 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 | 618232 | | OMIM | 1 | | 302 | 7713 | 603848 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | NDUFS7 CL E G H | 374291 | 618224 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 | 618224 | | OMIM | 1 | | 215 | 7714 | 601825 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | NDUFV2 CL E G H | 4729 | 618229 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7 | 618229 | | OMIM | 1 | | 229 | 7717 | 600532 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | NECAP1 CL E G H | 25977 | 442835 | | | | ORPHA | 1 | | 221 | 24539 | 611623 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | NTRK2 CL E G H | 4915 | 442835 | | | | ORPHA | 1 | | 509 | 8032 | 600456 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | NUS1 CL E G H | 116150 | 442835 | | | | ORPHA | 1 | | 326 | 21042 | 610463 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | PNPO CL E G H | 55163 | 610090 | Pyridoxal 5'-phosphate-dependent epilepsy | 610090 | C1864723 | OMIM | 1 | | 317 | 30260 | 603287 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | PPP3CA CL E G H | 5530 | 442835 | | | | ORPHA | 1 | | 351 | 9314 | 114105 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | PRNP CL E G H | 5621 | 606688 | Spongiform encephalopathy with neuropsychiatric features | 606688 | C1847650 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | RNASEH2B CL E G H | 79621 | 610181 | Aicardi Goutieres syndrome 2 | 610181 | C3489724 | OMIM | 1 | | 426 | 25671 | 610326 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | RNASEH2C CL E G H | 84153 | 610329 | Aicardi Goutieres syndrome 3 | 610329 | C1835916 | OMIM | 1 | | 307 | 24116 | 610330 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | SCN1A CL E G H | 6323 | 2382 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | SCN3A CL E G H | 6328 | 442835 | | | | ORPHA | 1 | | 1420 | 10590 | 182391 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | SCN8A CL E G H | 6334 | 442835 | | | | ORPHA | 1 | | 1799 | 10596 | 600702 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | SERAC1 CL E G H | 84947 | 614739 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 614739 | C3553597 | OMIM | 1 | | 400 | 21061 | 614725 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | SERPINI1 CL E G H | 5274 | 604218 | Encephalopathy, familial, with neuroserpin inclusion bodies | 604218 | C1858680 | OMIM | 1 | | 310 | 8943 | 602445 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | SIK1 CL E G H | 150094 | 616341 | Epileptic encephalopathy, early infantile, 30 | 616341 | C4225360 | OMIM | 1 | | 909 | 11142 | 605705 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | SLC13A5 CL E G H | 284111 | 442835 | | | | ORPHA | 1 | | 685 | 23089 | 608305 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | SLC1A2 CL E G H | 6506 | 442835 | | | | ORPHA | 1 | | 359 | 10940 | 600300 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | SLC22A5 CL E G H | 6584 | 212140 | Renal carnitine transport defect | 212140 | C0342788 | OMIM | 1 | | 1027 | 10969 | 603377 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | SLC25A1 CL E G H | 6576 | 615182 | Combined d-2- and l-2-hydroxyglutaric aciduria | 615182 | C2746066 | OMIM | 1 | | 568 | 10979 | 190315 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | SLC25A20 CL E G H | 788 | 159 | | | | ORPHA | 1 | | 197 | 1421 | 613698 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | SLC2A1 CL E G H | 6513 | 71277 | | | | ORPHA | 1 | | 965 | 11005 | 138140 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | SLC35A1 CL E G H | 10559 | 603585 | Congenital disorder of glycosylation type 2F | 603585 | C1970344 | OMIM | 1 | | 125 | 11021 | 605634 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | SLC6A9 CL E G H | 6536 | 617301 | Glycine encephalopathy with normal serum glycine | 617301 | C4310943 | OMIM | 1 | | 269 | 11056 | 601019 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | STXBP1 CL E G H | 6812 | 442835 | | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | SUCLG1 CL E G H | 8802 | 245400 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) | 245400 | C3151476 | OMIM | 1 | | 303 | 11449 | 611224 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | SYNGAP1 CL E G H | 8831 | 442835 | | | | ORPHA | 1 | | 1335 | 11497 | 603384 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | SYNJ1 CL E G H | 8867 | 442835 | | | | ORPHA | 1 | | 1315 | 11503 | 604297 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | SZT2 CL E G H | 23334 | 442835 | | | | ORPHA | 1 | | 2862 | 29040 | 615463 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | TBCD CL E G H | 6904 | 617193 | Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum | 617193 | C4310671 | OMIM | 1 | | 705 | 11581 | 604649 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | TBCE CL E G H | 6905 | 617207 | Encephalopathy, progressive, with amyotrophy and optic atrophy | 617207 | C4310667 | OMIM | 1 | | 456 | 11582 | 604934 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | TBCK CL E G H | 93627 | 616900 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 616900 | C4225161 | OMIM | 1 | | 722 | 28261 | 616899 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | TCF4 CL E G H | 6925 | 610954 | Pitt-Hopkins syndrome | 610954 | C1970431 | OMIM | 1 | | 1069 | 11634 | 602272 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | TGFB1 CL E G H | 7040 | 618213 | INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY | 618213 | | OMIM | 1 | | 286 | 11766 | 190180 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | TMEM70 CL E G H | 54968 | 614052 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 | 614052 | C3279699 | OMIM | 1 | | 325 | 26050 | 612418 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | TRAK1 CL E G H | 22906 | 442835 | | | | ORPHA | 1 | | 208 | 29947 | 608112 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | TRAK1 CL E G H | 22906 | 618201 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 | 618201 | | OMIM | 1 | | 208 | 29947 | 608112 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | TRAPPC12 CL E G H | 51112 | 617669 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY | 617669 | C4540059 | OMIM | 1 | | 202 | 24284 | 614139 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | TRIT1 CL E G H | 54802 | 617873 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35 | 617873 | CN807948 | OMIM | 1 | | 113 | 20286 | 617840 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | TSFM CL E G H | 10102 | 610505 | Combined oxidative phosphorylation deficiency 3 | 610505 | C1864840 | OMIM | 1 | | 434 | 12367 | 604723 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | TUFM CL E G H | 7284 | 610678 | Combined oxidative phosphorylation deficiency 4 | 610678 | C1857682 | OMIM | 1 | | 323 | 12420 | 602389 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | TWNK CL E G H | 56652 | 271245 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | 271245 | C1849096 | OMIM | 1 | | 450 | 1160 | 606075 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | UBA5 CL E G H | 79876 | 442835 | | | | ORPHA | 1 | | 223 | 23230 | 610552 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | UBA5 CL E G H | 79876 | 617132 | Epileptic encephalopathy, early infantile, 44 | 617132 | C4310700 | OMIM | 1 | | 223 | 23230 | 610552 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | UGT1A1 CL E G H | 54658 | 218800 | Crigler Najjar syndrome, type 1 | 218800 | | OMIM | 1 | | 315 | 12530 | 191740 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | WWOX CL E G H | 51741 | 442835 | | | | ORPHA | 1 | | 1102 | 12799 | 605131 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | YWHAG CL E G H | 7532 | 442835 | | | | ORPHA | 1 | | 189 | 12852 | 605356 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 1 | | | 20 | 601065 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 1 | | | 20 | 601065 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 1 | | | 20 | 601065 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 1 | | | 20 | 601065 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 1 | | | 20 | 601065 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 1 | | | 20 | 601065 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 1 | | | 20 | 601065 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 1 | | | 20 | 601065 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 1 | | | 20 | 601065 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 1 | | | 20 | 601065 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 1 | | | 20 | 601065 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | AARS CL E G H | 16 | 616339 | Epileptic encephalopathy, early infantile, 29 | 616339 | C4225361 | OMIM | 1 | | | 20 | 601065 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | AARS CL E G H | 16 | 616339 | Epileptic encephalopathy, early infantile, 29 | 616339 | C4225361 | OMIM | 1 | | | 20 | 601065 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | AARS CL E G H | 16 | 616339 | Epileptic encephalopathy, early infantile, 29 | 616339 | C4225361 | OMIM | 1 | | | 20 | 601065 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | AARS CL E G H | 16 | 616339 | Epileptic encephalopathy, early infantile, 29 | 616339 | C4225361 | OMIM | 1 | | | 20 | 601065 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | AARS CL E G H | 16 | 616339 | Epileptic encephalopathy, early infantile, 29 | 616339 | C4225361 | OMIM | 1 | | | 20 | 601065 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | AARS CL E G H | 16 | 616339 | Epileptic encephalopathy, early infantile, 29 | 616339 | C4225361 | OMIM | 1 | | | 20 | 601065 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | AARS CL E G H | 16 | 616339 | Epileptic encephalopathy, early infantile, 29 | 616339 | C4225361 | OMIM | 1 | | | 20 | 601065 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | AARS CL E G H | 16 | 616339 | Epileptic encephalopathy, early infantile, 29 | 616339 | C4225361 | OMIM | 1 | | | 20 | 601065 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | AARS CL E G H | 16 | 616339 | Epileptic encephalopathy, early infantile, 29 | 616339 | C4225361 | OMIM | 1 | | | 20 | 601065 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | AARS CL E G H | 16 | 616339 | Epileptic encephalopathy, early infantile, 29 | 616339 | C4225361 | OMIM | 1 | | | 20 | 601065 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | AARS CL E G H | 16 | 616339 | Epileptic encephalopathy, early infantile, 29 | 616339 | C4225361 | OMIM | 1 | | | 20 | 601065 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | ACAD9 CL E G H | 28976 | 99901 | | | | ORPHA | 1 | | 771 | 21497 | 611103 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | ACAD9 CL E G H | 28976 | 99901 | | | | ORPHA | 1 | | 771 | 21497 | 611103 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | ACAD9 CL E G H | 28976 | 99901 | | | | ORPHA | 1 | | 771 | 21497 | 611103 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | ACAD9 CL E G H | 28976 | 99901 | | | | ORPHA | 1 | | 771 | 21497 | 611103 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | ACAD9 CL E G H | 28976 | 99901 | | | | ORPHA | 1 | | 771 | 21497 | 611103 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | ACAD9 CL E G H | 28976 | 99901 | | | | ORPHA | 1 | | 771 | 21497 | 611103 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | ACAD9 CL E G H | 28976 | 99901 | | | | ORPHA | 1 | | 771 | 21497 | 611103 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | ACAD9 CL E G H | 28976 | 99901 | | | | ORPHA | 1 | | 771 | 21497 | 611103 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | ACAD9 CL E G H | 28976 | 99901 | | | | ORPHA | 1 | | 771 | 21497 | 611103 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | ACAD9 CL E G H | 28976 | 99901 | | | | ORPHA | 1 | | 771 | 21497 | 611103 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | ACAD9 CL E G H | 28976 | 99901 | | | | ORPHA | 1 | | 771 | 21497 | 611103 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | ACAD9 CL E G H | 28976 | 611126 | Acyl-CoA dehydrogenase family, member 9, deficiency of | 611126 | C1970173 | OMIM | 1 | | 771 | 21497 | 611103 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | ACAD9 CL E G H | 28976 | 611126 | Acyl-CoA dehydrogenase family, member 9, deficiency of | 611126 | C1970173 | OMIM | 1 | | 771 | 21497 | 611103 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | ACAD9 CL E G H | 28976 | 611126 | Acyl-CoA dehydrogenase family, member 9, deficiency of | 611126 | C1970173 | OMIM | 1 | | 771 | 21497 | 611103 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | ACAD9 CL E G H | 28976 | 611126 | Acyl-CoA dehydrogenase family, member 9, deficiency of | 611126 | C1970173 | OMIM | 1 | | 771 | 21497 | 611103 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | ACAD9 CL E G H | 28976 | 611126 | Acyl-CoA dehydrogenase family, member 9, deficiency of | 611126 | C1970173 | OMIM | 1 | | 771 | 21497 | 611103 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | ACAD9 CL E G H | 28976 | 611126 | Acyl-CoA dehydrogenase family, member 9, deficiency of | 611126 | C1970173 | OMIM | 1 | | 771 | 21497 | 611103 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | ACAD9 CL E G H | 28976 | 611126 | Acyl-CoA dehydrogenase family, member 9, deficiency of | 611126 | C1970173 | OMIM | 1 | | 771 | 21497 | 611103 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | ACAD9 CL E G H | 28976 | 611126 | Acyl-CoA dehydrogenase family, member 9, deficiency of | 611126 | C1970173 | OMIM | 1 | | 771 | 21497 | 611103 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | ACAD9 CL E G H | 28976 | 611126 | Acyl-CoA dehydrogenase family, member 9, deficiency of | 611126 | C1970173 | OMIM | 1 | | 771 | 21497 | 611103 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | ACAD9 CL E G H | 28976 | 611126 | Acyl-CoA dehydrogenase family, member 9, deficiency of | 611126 | C1970173 | OMIM | 1 | | 771 | 21497 | 611103 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | ACAD9 CL E G H | 28976 | 611126 | Acyl-CoA dehydrogenase family, member 9, deficiency of | 611126 | C1970173 | OMIM | 1 | | 771 | 21497 | 611103 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | ACY1 CL E G H | 95 | 137754 | | | | ORPHA | 1 | | 153 | 177 | 104620 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | ACY1 CL E G H | 95 | 137754 | | | | ORPHA | 1 | | 153 | 177 | 104620 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | ACY1 CL E G H | 95 | 137754 | | | | ORPHA | 1 | | 153 | 177 | 104620 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | ACY1 CL E G H | 95 | 137754 | | | | ORPHA | 1 | | 153 | 177 | 104620 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | ACY1 CL E G H | 95 | 137754 | | | | ORPHA | 1 | | 153 | 177 | 104620 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | ACY1 CL E G H | 95 | 137754 | | | | ORPHA | 1 | | 153 | 177 | 104620 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | ACY1 CL E G H | 95 | 137754 | | | | ORPHA | 1 | | 153 | 177 | 104620 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | ACY1 CL E G H | 95 | 137754 | | | | ORPHA | 1 | | 153 | 177 | 104620 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | ACY1 CL E G H | 95 | 137754 | | | | ORPHA | 1 | | 153 | 177 | 104620 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | ACY1 CL E G H | 95 | 137754 | | | | ORPHA | 1 | | 153 | 177 | 104620 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | ACY1 CL E G H | 95 | 137754 | | | | ORPHA | 1 | | 153 | 177 | 104620 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | AMT CL E G H | 275 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 591 | 473 | 238310 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | AMT CL E G H | 275 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 591 | 473 | 238310 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | AMT CL E G H | 275 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 591 | 473 | 238310 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | AMT CL E G H | 275 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 591 | 473 | 238310 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | AMT CL E G H | 275 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 591 | 473 | 238310 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | AMT CL E G H | 275 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 591 | 473 | 238310 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | AMT CL E G H | 275 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 591 | 473 | 238310 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | AMT CL E G H | 275 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 591 | 473 | 238310 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | AMT CL E G H | 275 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 591 | 473 | 238310 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | AMT CL E G H | 275 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 591 | 473 | 238310 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | AMT CL E G H | 275 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 591 | 473 | 238310 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 1 | | 690 | 567 | 602166 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 1 | | 690 | 567 | 602166 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 1 | | 690 | 567 | 602166 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 1 | | 690 | 567 | 602166 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 1 | | 690 | 567 | 602166 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 1 | | 690 | 567 | 602166 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 1 | | 690 | 567 | 602166 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 1 | | 690 | 567 | 602166 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 1 | | 690 | 567 | 602166 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 1 | | 690 | 567 | 602166 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 1 | | 690 | 567 | 602166 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 1 | | 89 | 29561 | 611647 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 1 | | 89 | 29561 | 611647 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 1 | | 89 | 29561 | 611647 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 1 | | 89 | 29561 | 611647 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 1 | | 89 | 29561 | 611647 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 1 | | 89 | 29561 | 611647 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 1 | | 89 | 29561 | 611647 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 1 | | 89 | 29561 | 611647 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 1 | | 89 | 29561 | 611647 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 1 | | 89 | 29561 | 611647 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 1 | | 89 | 29561 | 611647 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | ASNS CL E G H | 440 | 615574 | Asparagine synthetase deficiency | 615574 | C3809971 | OMIM | 1 | | 586 | 753 | 108370 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | ASNS CL E G H | 440 | 615574 | Asparagine synthetase deficiency | 615574 | C3809971 | OMIM | 1 | | 586 | 753 | 108370 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | ASNS CL E G H | 440 | 615574 | Asparagine synthetase deficiency | 615574 | C3809971 | OMIM | 1 | | 586 | 753 | 108370 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | ASNS CL E G H | 440 | 615574 | Asparagine synthetase deficiency | 615574 | C3809971 | OMIM | 1 | | 586 | 753 | 108370 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | ASNS CL E G H | 440 | 615574 | Asparagine synthetase deficiency | 615574 | C3809971 | OMIM | 1 | | 586 | 753 | 108370 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | ASNS CL E G H | 440 | 615574 | Asparagine synthetase deficiency | 615574 | C3809971 | OMIM | 1 | | 586 | 753 | 108370 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | ASNS CL E G H | 440 | 615574 | Asparagine synthetase deficiency | 615574 | C3809971 | OMIM | 1 | | 586 | 753 | 108370 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | ASNS CL E G H | 440 | 615574 | Asparagine synthetase deficiency | 615574 | C3809971 | OMIM | 1 | | 586 | 753 | 108370 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | ASNS CL E G H | 440 | 615574 | Asparagine synthetase deficiency | 615574 | C3809971 | OMIM | 1 | | 586 | 753 | 108370 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | ASNS CL E G H | 440 | 615574 | Asparagine synthetase deficiency | 615574 | C3809971 | OMIM | 1 | | 586 | 753 | 108370 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | ASNS CL E G H | 440 | 615574 | Asparagine synthetase deficiency | 615574 | C3809971 | OMIM | 1 | | 586 | 753 | 108370 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | ATAD1 CL E G H | 84896 | 618011 | HYPEREKPLEXIA 4 | 618011 | CN248518 | OMIM | 1 | | 183 | 25903 | 614452 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | ATAD1 CL E G H | 84896 | 618011 | HYPEREKPLEXIA 4 | 618011 | CN248518 | OMIM | 1 | | 183 | 25903 | 614452 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | ATAD1 CL E G H | 84896 | 618011 | HYPEREKPLEXIA 4 | 618011 | CN248518 | OMIM | 1 | | 183 | 25903 | 614452 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | ATAD1 CL E G H | 84896 | 618011 | HYPEREKPLEXIA 4 | 618011 | CN248518 | OMIM | 1 | | 183 | 25903 | 614452 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | ATAD1 CL E G H | 84896 | 618011 | HYPEREKPLEXIA 4 | 618011 | CN248518 | OMIM | 1 | | 183 | 25903 | 614452 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | ATAD1 CL E G H | 84896 | 618011 | HYPEREKPLEXIA 4 | 618011 | CN248518 | OMIM | 1 | | 183 | 25903 | 614452 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | ATAD1 CL E G H | 84896 | 618011 | HYPEREKPLEXIA 4 | 618011 | CN248518 | OMIM | 1 | | 183 | 25903 | 614452 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | ATAD1 CL E G H | 84896 | 618011 | HYPEREKPLEXIA 4 | 618011 | CN248518 | OMIM | 1 | | 183 | 25903 | 614452 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | ATAD1 CL E G H | 84896 | 618011 | HYPEREKPLEXIA 4 | 618011 | CN248518 | OMIM | 1 | | 183 | 25903 | 614452 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | ATAD1 CL E G H | 84896 | 618011 | HYPEREKPLEXIA 4 | 618011 | CN248518 | OMIM | 1 | | 183 | 25903 | 614452 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | ATAD1 CL E G H | 84896 | 618011 | HYPEREKPLEXIA 4 | 618011 | CN248518 | OMIM | 1 | | 183 | 25903 | 614452 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | ATP1A3 CL E G H | 478 | 1171 | | | | ORPHA | 1 | | 993 | 801 | 182350 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | ATP1A3 CL E G H | 478 | 1171 | | | | ORPHA | 1 | | 993 | 801 | 182350 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | ATP1A3 CL E G H | 478 | 1171 | | | | ORPHA | 1 | | 993 | 801 | 182350 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | ATP1A3 CL E G H | 478 | 1171 | | | | ORPHA | 1 | | 993 | 801 | 182350 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | ATP1A3 CL E G H | 478 | 1171 | | | | ORPHA | 1 | | 993 | 801 | 182350 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | ATP1A3 CL E G H | 478 | 1171 | | | | ORPHA | 1 | | 993 | 801 | 182350 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | ATP1A3 CL E G H | 478 | 1171 | | | | ORPHA | 1 | | 993 | 801 | 182350 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | ATP1A3 CL E G H | 478 | 1171 | | | | ORPHA | 1 | | 993 | 801 | 182350 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | ATP1A3 CL E G H | 478 | 1171 | | | | ORPHA | 1 | | 993 | 801 | 182350 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | ATP1A3 CL E G H | 478 | 1171 | | | | ORPHA | 1 | | 993 | 801 | 182350 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | ATP1A3 CL E G H | 478 | 1171 | | | | ORPHA | 1 | | 993 | 801 | 182350 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | ATP5F1A CL E G H | 498 | 616045 | Combined oxidative phosphorylation deficiency 22 | 616045 | C4015062 | OMIM | 1 | | 209 | 823 | 164360 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | ATP5F1A CL E G H | 498 | 616045 | Combined oxidative phosphorylation deficiency 22 | 616045 | C4015062 | OMIM | 1 | | 209 | 823 | 164360 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | ATP5F1A CL E G H | 498 | 616045 | Combined oxidative phosphorylation deficiency 22 | 616045 | C4015062 | OMIM | 1 | | 209 | 823 | 164360 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | ATP5F1A CL E G H | 498 | 616045 | Combined oxidative phosphorylation deficiency 22 | 616045 | C4015062 | OMIM | 1 | | 209 | 823 | 164360 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | ATP5F1A CL E G H | 498 | 616045 | Combined oxidative phosphorylation deficiency 22 | 616045 | C4015062 | OMIM | 1 | | 209 | 823 | 164360 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | ATP5F1A CL E G H | 498 | 616045 | Combined oxidative phosphorylation deficiency 22 | 616045 | C4015062 | OMIM | 1 | | 209 | 823 | 164360 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | ATP5F1A CL E G H | 498 | 616045 | Combined oxidative phosphorylation deficiency 22 | 616045 | C4015062 | OMIM | 1 | | 209 | 823 | 164360 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | ATP5F1A CL E G H | 498 | 616045 | Combined oxidative phosphorylation deficiency 22 | 616045 | C4015062 | OMIM | 1 | | 209 | 823 | 164360 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | ATP5F1A CL E G H | 498 | 616045 | Combined oxidative phosphorylation deficiency 22 | 616045 | C4015062 | OMIM | 1 | | 209 | 823 | 164360 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | ATP5F1A CL E G H | 498 | 616045 | Combined oxidative phosphorylation deficiency 22 | 616045 | C4015062 | OMIM | 1 | | 209 | 823 | 164360 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | ATP5F1A CL E G H | 498 | 616045 | Combined oxidative phosphorylation deficiency 22 | 616045 | C4015062 | OMIM | 1 | | 209 | 823 | 164360 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | ATP5F1A CL E G H | 498 | 615228 | Mitochondrial complex v (atp synthase) deficiency, nuclear type 4 | 615228 | C3808899 | OMIM | 1 | | 209 | 823 | 164360 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | ATP5F1A CL E G H | 498 | 615228 | Mitochondrial complex v (atp synthase) deficiency, nuclear type 4 | 615228 | C3808899 | OMIM | 1 | | 209 | 823 | 164360 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | ATP5F1A CL E G H | 498 | 615228 | Mitochondrial complex v (atp synthase) deficiency, nuclear type 4 | 615228 | C3808899 | OMIM | 1 | | 209 | 823 | 164360 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | ATP5F1A CL E G H | 498 | 615228 | Mitochondrial complex v (atp synthase) deficiency, nuclear type 4 | 615228 | C3808899 | OMIM | 1 | | 209 | 823 | 164360 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | ATP5F1A CL E G H | 498 | 615228 | Mitochondrial complex v (atp synthase) deficiency, nuclear type 4 | 615228 | C3808899 | OMIM | 1 | | 209 | 823 | 164360 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | ATP5F1A CL E G H | 498 | 615228 | Mitochondrial complex v (atp synthase) deficiency, nuclear type 4 | 615228 | C3808899 | OMIM | 1 | | 209 | 823 | 164360 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | ATP5F1A CL E G H | 498 | 615228 | Mitochondrial complex v (atp synthase) deficiency, nuclear type 4 | 615228 | C3808899 | OMIM | 1 | | 209 | 823 | 164360 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | ATP5F1A CL E G H | 498 | 615228 | Mitochondrial complex v (atp synthase) deficiency, nuclear type 4 | 615228 | C3808899 | OMIM | 1 | | 209 | 823 | 164360 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | ATP5F1A CL E G H | 498 | 615228 | Mitochondrial complex v (atp synthase) deficiency, nuclear type 4 | 615228 | C3808899 | OMIM | 1 | | 209 | 823 | 164360 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | ATP5F1A CL E G H | 498 | 615228 | Mitochondrial complex v (atp synthase) deficiency, nuclear type 4 | 615228 | C3808899 | OMIM | 1 | | 209 | 823 | 164360 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | ATP5F1A CL E G H | 498 | 615228 | Mitochondrial complex v (atp synthase) deficiency, nuclear type 4 | 615228 | C3808899 | OMIM | 1 | | 209 | 823 | 164360 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | ATP5F1D CL E G H | 513 | 618120 | MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 | 618120 | CN253835 | OMIM | 1 | | 122 | 837 | 603150 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | ATP5F1D CL E G H | 513 | 618120 | MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 | 618120 | CN253835 | OMIM | 1 | | 122 | 837 | 603150 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | ATP5F1D CL E G H | 513 | 618120 | MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 | 618120 | CN253835 | OMIM | 1 | | 122 | 837 | 603150 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | ATP5F1D CL E G H | 513 | 618120 | MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 | 618120 | CN253835 | OMIM | 1 | | 122 | 837 | 603150 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | ATP5F1D CL E G H | 513 | 618120 | MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 | 618120 | CN253835 | OMIM | 1 | | 122 | 837 | 603150 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | ATP5F1D CL E G H | 513 | 618120 | MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 | 618120 | CN253835 | OMIM | 1 | | 122 | 837 | 603150 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | ATP5F1D CL E G H | 513 | 618120 | MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 | 618120 | CN253835 | OMIM | 1 | | 122 | 837 | 603150 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | ATP5F1D CL E G H | 513 | 618120 | MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 | 618120 | CN253835 | OMIM | 1 | | 122 | 837 | 603150 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | ATP5F1D CL E G H | 513 | 618120 | MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 | 618120 | CN253835 | OMIM | 1 | | 122 | 837 | 603150 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | ATP5F1D CL E G H | 513 | 618120 | MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 | 618120 | CN253835 | OMIM | 1 | | 122 | 837 | 603150 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | ATP5F1D CL E G H | 513 | 618120 | MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 | 618120 | CN253835 | OMIM | 1 | | 122 | 837 | 603150 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 1 | | 229 | 851 | 607027 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 1 | | 229 | 851 | 607027 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 1 | | 229 | 851 | 607027 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 1 | | 229 | 851 | 607027 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 1 | | 229 | 851 | 607027 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 1 | | 229 | 851 | 607027 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 1 | | 229 | 851 | 607027 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 1 | | 229 | 851 | 607027 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 1 | | 229 | 851 | 607027 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 1 | | 229 | 851 | 607027 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 1 | | 229 | 851 | 607027 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | BSCL2 CL E G H | 26580 | 615924 | Encephalopathy, progressive, with or without lipodystrophy | 615924 | C4014700 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | BSCL2 CL E G H | 26580 | 615924 | Encephalopathy, progressive, with or without lipodystrophy | 615924 | C4014700 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | BSCL2 CL E G H | 26580 | 615924 | Encephalopathy, progressive, with or without lipodystrophy | 615924 | C4014700 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | BSCL2 CL E G H | 26580 | 615924 | Encephalopathy, progressive, with or without lipodystrophy | 615924 | C4014700 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | BSCL2 CL E G H | 26580 | 615924 | Encephalopathy, progressive, with or without lipodystrophy | 615924 | C4014700 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | BSCL2 CL E G H | 26580 | 615924 | Encephalopathy, progressive, with or without lipodystrophy | 615924 | C4014700 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | BSCL2 CL E G H | 26580 | 615924 | Encephalopathy, progressive, with or without lipodystrophy | 615924 | C4014700 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | BSCL2 CL E G H | 26580 | 615924 | Encephalopathy, progressive, with or without lipodystrophy | 615924 | C4014700 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | BSCL2 CL E G H | 26580 | 615924 | Encephalopathy, progressive, with or without lipodystrophy | 615924 | C4014700 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | BSCL2 CL E G H | 26580 | 615924 | Encephalopathy, progressive, with or without lipodystrophy | 615924 | C4014700 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | BSCL2 CL E G H | 26580 | 615924 | Encephalopathy, progressive, with or without lipodystrophy | 615924 | C4014700 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 1 | | 3248 | 1388 | 601011 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 1 | | 3248 | 1388 | 601011 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 1 | | 3248 | 1388 | 601011 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 1 | | 3248 | 1388 | 601011 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 1 | | 3248 | 1388 | 601011 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 1 | | 3248 | 1388 | 601011 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 1 | | 3248 | 1388 | 601011 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 1 | | 3248 | 1388 | 601011 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 1 | | 3248 | 1388 | 601011 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 1 | | 3248 | 1388 | 601011 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 1 | | 3248 | 1388 | 601011 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | CHD2 CL E G H | 1106 | 2382 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | CHD2 CL E G H | 1106 | 2382 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | CHD2 CL E G H | 1106 | 2382 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | CHD2 CL E G H | 1106 | 2382 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | CHD2 CL E G H | 1106 | 2382 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | CHD2 CL E G H | 1106 | 2382 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | CHD2 CL E G H | 1106 | 2382 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | CHD2 CL E G H | 1106 | 2382 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | CHD2 CL E G H | 1106 | 2382 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | CHD2 CL E G H | 1106 | 2382 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | CHD2 CL E G H | 1106 | 2382 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | CLP1 CL E G H | 10978 | 615803 | Pontocerebellar hypoplasia, type 10 | 615803 | C4014347 | OMIM | 1 | | 97 | 16999 | 608757 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | CLP1 CL E G H | 10978 | 615803 | Pontocerebellar hypoplasia, type 10 | 615803 | C4014347 | OMIM | 1 | | 97 | 16999 | 608757 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | CLP1 CL E G H | 10978 | 615803 | Pontocerebellar hypoplasia, type 10 | 615803 | C4014347 | OMIM | 1 | | 97 | 16999 | 608757 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | CLP1 CL E G H | 10978 | 615803 | Pontocerebellar hypoplasia, type 10 | 615803 | C4014347 | OMIM | 1 | | 97 | 16999 | 608757 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | CLP1 CL E G H | 10978 | 615803 | Pontocerebellar hypoplasia, type 10 | 615803 | C4014347 | OMIM | 1 | | 97 | 16999 | 608757 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | CLP1 CL E G H | 10978 | 615803 | Pontocerebellar hypoplasia, type 10 | 615803 | C4014347 | OMIM | 1 | | 97 | 16999 | 608757 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | CLP1 CL E G H | 10978 | 615803 | Pontocerebellar hypoplasia, type 10 | 615803 | C4014347 | OMIM | 1 | | 97 | 16999 | 608757 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | CLP1 CL E G H | 10978 | 615803 | Pontocerebellar hypoplasia, type 10 | 615803 | C4014347 | OMIM | 1 | | 97 | 16999 | 608757 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | CLP1 CL E G H | 10978 | 615803 | Pontocerebellar hypoplasia, type 10 | 615803 | C4014347 | OMIM | 1 | | 97 | 16999 | 608757 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | CLP1 CL E G H | 10978 | 615803 | Pontocerebellar hypoplasia, type 10 | 615803 | C4014347 | OMIM | 1 | | 97 | 16999 | 608757 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | CLP1 CL E G H | 10978 | 615803 | Pontocerebellar hypoplasia, type 10 | 615803 | C4014347 | OMIM | 1 | | 97 | 16999 | 608757 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 1 | | 645 | 2092 | 118955 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 1 | | 645 | 2092 | 118955 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 1 | | 645 | 2092 | 118955 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 1 | | 645 | 2092 | 118955 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 1 | | 645 | 2092 | 118955 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 1 | | 645 | 2092 | 118955 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 1 | | 645 | 2092 | 118955 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 1 | | 645 | 2092 | 118955 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 1 | | 645 | 2092 | 118955 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 1 | | 645 | 2092 | 118955 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 1 | | 645 | 2092 | 118955 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 1 | | 306 | 19701 | 300724 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 1 | | 306 | 19701 | 300724 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 1 | | 306 | 19701 | 300724 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 1 | | 306 | 19701 | 300724 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 1 | | 306 | 19701 | 300724 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 1 | | 306 | 19701 | 300724 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 1 | | 306 | 19701 | 300724 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 1 | | 306 | 19701 | 300724 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 1 | | 306 | 19701 | 300724 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 1 | | 306 | 19701 | 300724 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 1 | | 306 | 19701 | 300724 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | COG8 CL E G H | 84342 | 611182 | Congenital disorder of glycosylation type 2H | 611182 | C1970021 | OMIM | 1 | | 245 | 18623 | 606979 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | COG8 CL E G H | 84342 | 611182 | Congenital disorder of glycosylation type 2H | 611182 | C1970021 | OMIM | 1 | | 245 | 18623 | 606979 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | COG8 CL E G H | 84342 | 611182 | Congenital disorder of glycosylation type 2H | 611182 | C1970021 | OMIM | 1 | | 245 | 18623 | 606979 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | COG8 CL E G H | 84342 | 611182 | Congenital disorder of glycosylation type 2H | 611182 | C1970021 | OMIM | 1 | | 245 | 18623 | 606979 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | COG8 CL E G H | 84342 | 611182 | Congenital disorder of glycosylation type 2H | 611182 | C1970021 | OMIM | 1 | | 245 | 18623 | 606979 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | COG8 CL E G H | 84342 | 611182 | Congenital disorder of glycosylation type 2H | 611182 | C1970021 | OMIM | 1 | | 245 | 18623 | 606979 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | COG8 CL E G H | 84342 | 611182 | Congenital disorder of glycosylation type 2H | 611182 | C1970021 | OMIM | 1 | | 245 | 18623 | 606979 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | COG8 CL E G H | 84342 | 611182 | Congenital disorder of glycosylation type 2H | 611182 | C1970021 | OMIM | 1 | | 245 | 18623 | 606979 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | COG8 CL E G H | 84342 | 611182 | Congenital disorder of glycosylation type 2H | 611182 | C1970021 | OMIM | 1 | | 245 | 18623 | 606979 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | COG8 CL E G H | 84342 | 611182 | Congenital disorder of glycosylation type 2H | 611182 | C1970021 | OMIM | 1 | | 245 | 18623 | 606979 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | COG8 CL E G H | 84342 | 611182 | Congenital disorder of glycosylation type 2H | 611182 | C1970021 | OMIM | 1 | | 245 | 18623 | 606979 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | COQ2 CL E G H | 27235 | 607426 | Coenzyme Q10 deficiency, primary 1 | 607426 | C1843920 | OMIM | 1 | | 346 | 25223 | 609825 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | COQ2 CL E G H | 27235 | 607426 | Coenzyme Q10 deficiency, primary 1 | 607426 | C1843920 | OMIM | 1 | | 346 | 25223 | 609825 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | COQ2 CL E G H | 27235 | 607426 | Coenzyme Q10 deficiency, primary 1 | 607426 | C1843920 | OMIM | 1 | | 346 | 25223 | 609825 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | COQ2 CL E G H | 27235 | 607426 | Coenzyme Q10 deficiency, primary 1 | 607426 | C1843920 | OMIM | 1 | | 346 | 25223 | 609825 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | COQ2 CL E G H | 27235 | 607426 | Coenzyme Q10 deficiency, primary 1 | 607426 | C1843920 | OMIM | 1 | | 346 | 25223 | 609825 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | COQ2 CL E G H | 27235 | 607426 | Coenzyme Q10 deficiency, primary 1 | 607426 | C1843920 | OMIM | 1 | | 346 | 25223 | 609825 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | COQ2 CL E G H | 27235 | 607426 | Coenzyme Q10 deficiency, primary 1 | 607426 | C1843920 | OMIM | 1 | | 346 | 25223 | 609825 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | COQ2 CL E G H | 27235 | 607426 | Coenzyme Q10 deficiency, primary 1 | 607426 | C1843920 | OMIM | 1 | | 346 | 25223 | 609825 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | COQ2 CL E G H | 27235 | 607426 | Coenzyme Q10 deficiency, primary 1 | 607426 | C1843920 | OMIM | 1 | | 346 | 25223 | 609825 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | COQ2 CL E G H | 27235 | 607426 | Coenzyme Q10 deficiency, primary 1 | 607426 | C1843920 | OMIM | 1 | | 346 | 25223 | 609825 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | COQ2 CL E G H | 27235 | 607426 | Coenzyme Q10 deficiency, primary 1 | 607426 | C1843920 | OMIM | 1 | | 346 | 25223 | 609825 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | COQ9 CL E G H | 57017 | 614654 | Coenzyme Q10 deficiency, primary, 5 | 614654 | C3553374 | OMIM | 1 | | 276 | 25302 | 612837 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | COQ9 CL E G H | 57017 | 614654 | Coenzyme Q10 deficiency, primary, 5 | 614654 | C3553374 | OMIM | 1 | | 276 | 25302 | 612837 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | COQ9 CL E G H | 57017 | 614654 | Coenzyme Q10 deficiency, primary, 5 | 614654 | C3553374 | OMIM | 1 | | 276 | 25302 | 612837 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | COQ9 CL E G H | 57017 | 614654 | Coenzyme Q10 deficiency, primary, 5 | 614654 | C3553374 | OMIM | 1 | | 276 | 25302 | 612837 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | COQ9 CL E G H | 57017 | 614654 | Coenzyme Q10 deficiency, primary, 5 | 614654 | C3553374 | OMIM | 1 | | 276 | 25302 | 612837 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | COQ9 CL E G H | 57017 | 614654 | Coenzyme Q10 deficiency, primary, 5 | 614654 | C3553374 | OMIM | 1 | | 276 | 25302 | 612837 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | COQ9 CL E G H | 57017 | 614654 | Coenzyme Q10 deficiency, primary, 5 | 614654 | C3553374 | OMIM | 1 | | 276 | 25302 | 612837 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | COQ9 CL E G H | 57017 | 614654 | Coenzyme Q10 deficiency, primary, 5 | 614654 | C3553374 | OMIM | 1 | | 276 | 25302 | 612837 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | COQ9 CL E G H | 57017 | 614654 | Coenzyme Q10 deficiency, primary, 5 | 614654 | C3553374 | OMIM | 1 | | 276 | 25302 | 612837 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | COQ9 CL E G H | 57017 | 614654 | Coenzyme Q10 deficiency, primary, 5 | 614654 | C3553374 | OMIM | 1 | | 276 | 25302 | 612837 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | COQ9 CL E G H | 57017 | 614654 | Coenzyme Q10 deficiency, primary, 5 | 614654 | C3553374 | OMIM | 1 | | 276 | 25302 | 612837 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | COX15 CL E G H | 1355 | 615119 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | 615119 | C3554534 | OMIM | 1 | | 357 | 2263 | 603646 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | COX15 CL E G H | 1355 | 615119 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | 615119 | C3554534 | OMIM | 1 | | 357 | 2263 | 603646 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | COX15 CL E G H | 1355 | 615119 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | 615119 | C3554534 | OMIM | 1 | | 357 | 2263 | 603646 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | COX15 CL E G H | 1355 | 615119 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | 615119 | C3554534 | OMIM | 1 | | 357 | 2263 | 603646 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | COX15 CL E G H | 1355 | 615119 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | 615119 | C3554534 | OMIM | 1 | | 357 | 2263 | 603646 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | COX15 CL E G H | 1355 | 615119 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | 615119 | C3554534 | OMIM | 1 | | 357 | 2263 | 603646 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | COX15 CL E G H | 1355 | 615119 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | 615119 | C3554534 | OMIM | 1 | | 357 | 2263 | 603646 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | COX15 CL E G H | 1355 | 615119 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | 615119 | C3554534 | OMIM | 1 | | 357 | 2263 | 603646 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | COX15 CL E G H | 1355 | 615119 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | 615119 | C3554534 | OMIM | 1 | | 357 | 2263 | 603646 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | COX15 CL E G H | 1355 | 615119 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | 615119 | C3554534 | OMIM | 1 | | 357 | 2263 | 603646 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | COX15 CL E G H | 1355 | 615119 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | 615119 | C3554534 | OMIM | 1 | | 357 | 2263 | 603646 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | CUX2 CL E G H | 23316 | 2382 | | | | ORPHA | 1 | | 227 | 19347 | 610648 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | CUX2 CL E G H | 23316 | 2382 | | | | ORPHA | 1 | | 227 | 19347 | 610648 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | CUX2 CL E G H | 23316 | 2382 | | | | ORPHA | 1 | | 227 | 19347 | 610648 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | CUX2 CL E G H | 23316 | 2382 | | | | ORPHA | 1 | | 227 | 19347 | 610648 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | CUX2 CL E G H | 23316 | 2382 | | | | ORPHA | 1 | | 227 | 19347 | 610648 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | CUX2 CL E G H | 23316 | 2382 | | | | ORPHA | 1 | | 227 | 19347 | 610648 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | CUX2 CL E G H | 23316 | 2382 | | | | ORPHA | 1 | | 227 | 19347 | 610648 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | CUX2 CL E G H | 23316 | 2382 | | | | ORPHA | 1 | | 227 | 19347 | 610648 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | CUX2 CL E G H | 23316 | 2382 | | | | ORPHA | 1 | | 227 | 19347 | 610648 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | CUX2 CL E G H | 23316 | 2382 | | | | ORPHA | 1 | | 227 | 19347 | 610648 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | CUX2 CL E G H | 23316 | 2382 | | | | ORPHA | 1 | | 227 | 19347 | 610648 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | CYC1 CL E G H | 1537 | 615453 | Mitochondrial complex III deficiency, nuclear type 6 | 615453 | C3809553 | OMIM | 1 | | 161 | 2579 | 123980 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | CYC1 CL E G H | 1537 | 615453 | Mitochondrial complex III deficiency, nuclear type 6 | 615453 | C3809553 | OMIM | 1 | | 161 | 2579 | 123980 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | CYC1 CL E G H | 1537 | 615453 | Mitochondrial complex III deficiency, nuclear type 6 | 615453 | C3809553 | OMIM | 1 | | 161 | 2579 | 123980 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | CYC1 CL E G H | 1537 | 615453 | Mitochondrial complex III deficiency, nuclear type 6 | 615453 | C3809553 | OMIM | 1 | | 161 | 2579 | 123980 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | CYC1 CL E G H | 1537 | 615453 | Mitochondrial complex III deficiency, nuclear type 6 | 615453 | C3809553 | OMIM | 1 | | 161 | 2579 | 123980 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | CYC1 CL E G H | 1537 | 615453 | Mitochondrial complex III deficiency, nuclear type 6 | 615453 | C3809553 | OMIM | 1 | | 161 | 2579 | 123980 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | CYC1 CL E G H | 1537 | 615453 | Mitochondrial complex III deficiency, nuclear type 6 | 615453 | C3809553 | OMIM | 1 | | 161 | 2579 | 123980 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | CYC1 CL E G H | 1537 | 615453 | Mitochondrial complex III deficiency, nuclear type 6 | 615453 | C3809553 | OMIM | 1 | | 161 | 2579 | 123980 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | CYC1 CL E G H | 1537 | 615453 | Mitochondrial complex III deficiency, nuclear type 6 | 615453 | C3809553 | OMIM | 1 | | 161 | 2579 | 123980 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | CYC1 CL E G H | 1537 | 615453 | Mitochondrial complex III deficiency, nuclear type 6 | 615453 | C3809553 | OMIM | 1 | | 161 | 2579 | 123980 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | CYC1 CL E G H | 1537 | 615453 | Mitochondrial complex III deficiency, nuclear type 6 | 615453 | C3809553 | OMIM | 1 | | 161 | 2579 | 123980 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 1 | | 668 | 13760 | 606323 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 1 | | 668 | 13760 | 606323 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 1 | | 668 | 13760 | 606323 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 1 | | 668 | 13760 | 606323 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 1 | | 668 | 13760 | 606323 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 1 | | 668 | 13760 | 606323 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 1 | | 668 | 13760 | 606323 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 1 | | 668 | 13760 | 606323 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 1 | | 668 | 13760 | 606323 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 1 | | 668 | 13760 | 606323 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 1 | | 668 | 13760 | 606323 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | DGUOK CL E G H | 1716 | 251880 | Mitochondrial DNA-depletion syndrome 3, hepatocerebral | 251880 | C3151513 | OMIM | 1 | | 239 | 2858 | 601465 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | DGUOK CL E G H | 1716 | 251880 | Mitochondrial DNA-depletion syndrome 3, hepatocerebral | 251880 | C3151513 | OMIM | 1 | | 239 | 2858 | 601465 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | DGUOK CL E G H | 1716 | 251880 | Mitochondrial DNA-depletion syndrome 3, hepatocerebral | 251880 | C3151513 | OMIM | 1 | | 239 | 2858 | 601465 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | DGUOK CL E G H | 1716 | 251880 | Mitochondrial DNA-depletion syndrome 3, hepatocerebral | 251880 | C3151513 | OMIM | 1 | | 239 | 2858 | 601465 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | DGUOK CL E G H | 1716 | 251880 | Mitochondrial DNA-depletion syndrome 3, hepatocerebral | 251880 | C3151513 | OMIM | 1 | | 239 | 2858 | 601465 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | DGUOK CL E G H | 1716 | 251880 | Mitochondrial DNA-depletion syndrome 3, hepatocerebral | 251880 | C3151513 | OMIM | 1 | | 239 | 2858 | 601465 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | DGUOK CL E G H | 1716 | 251880 | Mitochondrial DNA-depletion syndrome 3, hepatocerebral | 251880 | C3151513 | OMIM | 1 | | 239 | 2858 | 601465 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | DGUOK CL E G H | 1716 | 251880 | Mitochondrial DNA-depletion syndrome 3, hepatocerebral | 251880 | C3151513 | OMIM | 1 | | 239 | 2858 | 601465 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | DGUOK CL E G H | 1716 | 251880 | Mitochondrial DNA-depletion syndrome 3, hepatocerebral | 251880 | C3151513 | OMIM | 1 | | 239 | 2858 | 601465 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | DGUOK CL E G H | 1716 | 251880 | Mitochondrial DNA-depletion syndrome 3, hepatocerebral | 251880 | C3151513 | OMIM | 1 | | 239 | 2858 | 601465 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | DGUOK CL E G H | 1716 | 251880 | Mitochondrial DNA-depletion syndrome 3, hepatocerebral | 251880 | C3151513 | OMIM | 1 | | 239 | 2858 | 601465 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 1 | | 434 | 20603 | 608172 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 1 | | 434 | 20603 | 608172 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 1 | | 434 | 20603 | 608172 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 1 | | 434 | 20603 | 608172 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 1 | | 434 | 20603 | 608172 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 1 | | 434 | 20603 | 608172 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 1 | | 434 | 20603 | 608172 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 1 | | 434 | 20603 | 608172 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 1 | | 434 | 20603 | 608172 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 1 | | 434 | 20603 | 608172 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 1 | | 434 | 20603 | 608172 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | DLD CL E G H | 1738 | 246900 | Maple syrup urine disease, type 3 | 246900 | CN043137 | OMIM | 1 | | 520 | 2898 | 238331 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | DLD CL E G H | 1738 | 246900 | Maple syrup urine disease, type 3 | 246900 | CN043137 | OMIM | 1 | | 520 | 2898 | 238331 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | DLD CL E G H | 1738 | 246900 | Maple syrup urine disease, type 3 | 246900 | CN043137 | OMIM | 1 | | 520 | 2898 | 238331 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | DLD CL E G H | 1738 | 246900 | Maple syrup urine disease, type 3 | 246900 | CN043137 | OMIM | 1 | | 520 | 2898 | 238331 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | DLD CL E G H | 1738 | 246900 | Maple syrup urine disease, type 3 | 246900 | CN043137 | OMIM | 1 | | 520 | 2898 | 238331 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | DLD CL E G H | 1738 | 246900 | Maple syrup urine disease, type 3 | 246900 | CN043137 | OMIM | 1 | | 520 | 2898 | 238331 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | DLD CL E G H | 1738 | 246900 | Maple syrup urine disease, type 3 | 246900 | CN043137 | OMIM | 1 | | 520 | 2898 | 238331 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | DLD CL E G H | 1738 | 246900 | Maple syrup urine disease, type 3 | 246900 | CN043137 | OMIM | 1 | | 520 | 2898 | 238331 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | DLD CL E G H | 1738 | 246900 | Maple syrup urine disease, type 3 | 246900 | CN043137 | OMIM | 1 | | 520 | 2898 | 238331 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | DLD CL E G H | 1738 | 246900 | Maple syrup urine disease, type 3 | 246900 | CN043137 | OMIM | 1 | | 520 | 2898 | 238331 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | DLD CL E G H | 1738 | 246900 | Maple syrup urine disease, type 3 | 246900 | CN043137 | OMIM | 1 | | 520 | 2898 | 238331 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | DNM1 CL E G H | 1759 | 2382 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | DNM1 CL E G H | 1759 | 2382 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | DNM1 CL E G H | 1759 | 2382 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | DNM1 CL E G H | 1759 | 2382 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | DNM1 CL E G H | 1759 | 2382 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | DNM1 CL E G H | 1759 | 2382 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | DNM1 CL E G H | 1759 | 2382 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | DNM1 CL E G H | 1759 | 2382 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | DNM1 CL E G H | 1759 | 2382 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | DNM1 CL E G H | 1759 | 2382 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | DNM1 CL E G H | 1759 | 2382 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | DNM1L CL E G H | 10059 | 614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | 614388 | C3280660 | OMIM | 1 | | 591 | 2973 | 603850 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | DNM1L CL E G H | 10059 | 614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | 614388 | C3280660 | OMIM | 1 | | 591 | 2973 | 603850 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | DNM1L CL E G H | 10059 | 614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | 614388 | C3280660 | OMIM | 1 | | 591 | 2973 | 603850 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | DNM1L CL E G H | 10059 | 614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | 614388 | C3280660 | OMIM | 1 | | 591 | 2973 | 603850 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | DNM1L CL E G H | 10059 | 614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | 614388 | C3280660 | OMIM | 1 | | 591 | 2973 | 603850 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | DNM1L CL E G H | 10059 | 614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | 614388 | C3280660 | OMIM | 1 | | 591 | 2973 | 603850 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | DNM1L CL E G H | 10059 | 614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | 614388 | C3280660 | OMIM | 1 | | 591 | 2973 | 603850 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | DNM1L CL E G H | 10059 | 614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | 614388 | C3280660 | OMIM | 1 | | 591 | 2973 | 603850 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | DNM1L CL E G H | 10059 | 614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | 614388 | C3280660 | OMIM | 1 | | 591 | 2973 | 603850 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | DNM1L CL E G H | 10059 | 614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | 614388 | C3280660 | OMIM | 1 | | 591 | 2973 | 603850 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | DNM1L CL E G H | 10059 | 614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | 614388 | C3280660 | OMIM | 1 | | 591 | 2973 | 603850 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 1 | | 575 | 3192 | 602959 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 1 | | 575 | 3192 | 602959 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 1 | | 575 | 3192 | 602959 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 1 | | 575 | 3192 | 602959 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 1 | | 575 | 3192 | 602959 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 1 | | 575 | 3192 | 602959 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 1 | | 575 | 3192 | 602959 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 1 | | 575 | 3192 | 602959 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 1 | | 575 | 3192 | 602959 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 1 | | 575 | 3192 | 602959 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 1 | | 575 | 3192 | 602959 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | ETHE1 CL E G H | 23474 | 51188 | | | | ORPHA | 1 | | 338 | 23287 | 608451 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | ETHE1 CL E G H | 23474 | 51188 | | | | ORPHA | 1 | | 338 | 23287 | 608451 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | ETHE1 CL E G H | 23474 | 51188 | | | | ORPHA | 1 | | 338 | 23287 | 608451 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | ETHE1 CL E G H | 23474 | 51188 | | | | ORPHA | 1 | | 338 | 23287 | 608451 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | ETHE1 CL E G H | 23474 | 51188 | | | | ORPHA | 1 | | 338 | 23287 | 608451 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | ETHE1 CL E G H | 23474 | 51188 | | | | ORPHA | 1 | | 338 | 23287 | 608451 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | ETHE1 CL E G H | 23474 | 51188 | | | | ORPHA | 1 | | 338 | 23287 | 608451 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | ETHE1 CL E G H | 23474 | 51188 | | | | ORPHA | 1 | | 338 | 23287 | 608451 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | ETHE1 CL E G H | 23474 | 51188 | | | | ORPHA | 1 | | 338 | 23287 | 608451 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | ETHE1 CL E G H | 23474 | 51188 | | | | ORPHA | 1 | | 338 | 23287 | 608451 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | ETHE1 CL E G H | 23474 | 51188 | | | | ORPHA | 1 | | 338 | 23287 | 608451 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | ETHE1 CL E G H | 23474 | 602473 | Ethylmalonic encephalopathy | 602473 | C1865349 | OMIM | 1 | | 338 | 23287 | 608451 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | ETHE1 CL E G H | 23474 | 602473 | Ethylmalonic encephalopathy | 602473 | C1865349 | OMIM | 1 | | 338 | 23287 | 608451 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | ETHE1 CL E G H | 23474 | 602473 | Ethylmalonic encephalopathy | 602473 | C1865349 | OMIM | 1 | | 338 | 23287 | 608451 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | ETHE1 CL E G H | 23474 | 602473 | Ethylmalonic encephalopathy | 602473 | C1865349 | OMIM | 1 | | 338 | 23287 | 608451 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | ETHE1 CL E G H | 23474 | 602473 | Ethylmalonic encephalopathy | 602473 | C1865349 | OMIM | 1 | | 338 | 23287 | 608451 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | ETHE1 CL E G H | 23474 | 602473 | Ethylmalonic encephalopathy | 602473 | C1865349 | OMIM | 1 | | 338 | 23287 | 608451 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | ETHE1 CL E G H | 23474 | 602473 | Ethylmalonic encephalopathy | 602473 | C1865349 | OMIM | 1 | | 338 | 23287 | 608451 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | ETHE1 CL E G H | 23474 | 602473 | Ethylmalonic encephalopathy | 602473 | C1865349 | OMIM | 1 | | 338 | 23287 | 608451 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | ETHE1 CL E G H | 23474 | 602473 | Ethylmalonic encephalopathy | 602473 | C1865349 | OMIM | 1 | | 338 | 23287 | 608451 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | ETHE1 CL E G H | 23474 | 602473 | Ethylmalonic encephalopathy | 602473 | C1865349 | OMIM | 1 | | 338 | 23287 | 608451 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | ETHE1 CL E G H | 23474 | 602473 | Ethylmalonic encephalopathy | 602473 | C1865349 | OMIM | 1 | | 338 | 23287 | 608451 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | FADD CL E G H | 8772 | 306550 | | | | ORPHA | 1 | | 110 | 3573 | 602457 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | FADD CL E G H | 8772 | 306550 | | | | ORPHA | 1 | | 110 | 3573 | 602457 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | FADD CL E G H | 8772 | 306550 | | | | ORPHA | 1 | | 110 | 3573 | 602457 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | FADD CL E G H | 8772 | 306550 | | | | ORPHA | 1 | | 110 | 3573 | 602457 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | FADD CL E G H | 8772 | 306550 | | | | ORPHA | 1 | | 110 | 3573 | 602457 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | FADD CL E G H | 8772 | 306550 | | | | ORPHA | 1 | | 110 | 3573 | 602457 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | FADD CL E G H | 8772 | 306550 | | | | ORPHA | 1 | | 110 | 3573 | 602457 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | FADD CL E G H | 8772 | 306550 | | | | ORPHA | 1 | | 110 | 3573 | 602457 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | FADD CL E G H | 8772 | 306550 | | | | ORPHA | 1 | | 110 | 3573 | 602457 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | FADD CL E G H | 8772 | 306550 | | | | ORPHA | 1 | | 110 | 3573 | 602457 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | FADD CL E G H | 8772 | 306550 | | | | ORPHA | 1 | | 110 | 3573 | 602457 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | FADD CL E G H | 8772 | 613759 | Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations | 613759 | C3151062 | OMIM | 1 | | 110 | 3573 | 602457 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | FADD CL E G H | 8772 | 613759 | Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations | 613759 | C3151062 | OMIM | 1 | | 110 | 3573 | 602457 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | FADD CL E G H | 8772 | 613759 | Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations | 613759 | C3151062 | OMIM | 1 | | 110 | 3573 | 602457 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | FADD CL E G H | 8772 | 613759 | Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations | 613759 | C3151062 | OMIM | 1 | | 110 | 3573 | 602457 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | FADD CL E G H | 8772 | 613759 | Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations | 613759 | C3151062 | OMIM | 1 | | 110 | 3573 | 602457 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | FADD CL E G H | 8772 | 613759 | Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations | 613759 | C3151062 | OMIM | 1 | | 110 | 3573 | 602457 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | FADD CL E G H | 8772 | 613759 | Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations | 613759 | C3151062 | OMIM | 1 | | 110 | 3573 | 602457 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | FADD CL E G H | 8772 | 613759 | Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations | 613759 | C3151062 | OMIM | 1 | | 110 | 3573 | 602457 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | FADD CL E G H | 8772 | 613759 | Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations | 613759 | C3151062 | OMIM | 1 | | 110 | 3573 | 602457 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | FADD CL E G H | 8772 | 613759 | Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations | 613759 | C3151062 | OMIM | 1 | | 110 | 3573 | 602457 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | FADD CL E G H | 8772 | 613759 | Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations | 613759 | C3151062 | OMIM | 1 | | 110 | 3573 | 602457 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | FBXL4 CL E G H | 26235 | 615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | 615471 | C3809592 | OMIM | 1 | | 566 | 13601 | 605654 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | FBXL4 CL E G H | 26235 | 615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | 615471 | C3809592 | OMIM | 1 | | 566 | 13601 | 605654 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | FBXL4 CL E G H | 26235 | 615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | 615471 | C3809592 | OMIM | 1 | | 566 | 13601 | 605654 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | FBXL4 CL E G H | 26235 | 615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | 615471 | C3809592 | OMIM | 1 | | 566 | 13601 | 605654 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | FBXL4 CL E G H | 26235 | 615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | 615471 | C3809592 | OMIM | 1 | | 566 | 13601 | 605654 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | FBXL4 CL E G H | 26235 | 615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | 615471 | C3809592 | OMIM | 1 | | 566 | 13601 | 605654 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | FBXL4 CL E G H | 26235 | 615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | 615471 | C3809592 | OMIM | 1 | | 566 | 13601 | 605654 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | FBXL4 CL E G H | 26235 | 615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | 615471 | C3809592 | OMIM | 1 | | 566 | 13601 | 605654 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | FBXL4 CL E G H | 26235 | 615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | 615471 | C3809592 | OMIM | 1 | | 566 | 13601 | 605654 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | FBXL4 CL E G H | 26235 | 615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | 615471 | C3809592 | OMIM | 1 | | 566 | 13601 | 605654 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | FBXL4 CL E G H | 26235 | 615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | 615471 | C3809592 | OMIM | 1 | | 566 | 13601 | 605654 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 1 | | 259 | 3668 | 601513 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 1 | | 259 | 3668 | 601513 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 1 | | 259 | 3668 | 601513 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 1 | | 259 | 3668 | 601513 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 1 | | 259 | 3668 | 601513 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 1 | | 259 | 3668 | 601513 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 1 | | 259 | 3668 | 601513 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 1 | | 259 | 3668 | 601513 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 1 | | 259 | 3668 | 601513 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 1 | | 259 | 3668 | 601513 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 1 | | 259 | 3668 | 601513 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 1 | | 494 | 4082 | 600232 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 1 | | 494 | 4082 | 600232 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 1 | | 494 | 4082 | 600232 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 1 | | 494 | 4082 | 600232 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 1 | | 494 | 4082 | 600232 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 1 | | 494 | 4082 | 600232 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 1 | | 494 | 4082 | 600232 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 1 | | 494 | 4082 | 600232 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 1 | | 494 | 4082 | 600232 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 1 | | 494 | 4082 | 600232 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 1 | | 494 | 4082 | 600232 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | GABRB3 CL E G H | 2562 | 2382 | | | | ORPHA | 1 | | 838 | 4083 | 137192 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | GABRB3 CL E G H | 2562 | 2382 | | | | ORPHA | 1 | | 838 | 4083 | 137192 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | GABRB3 CL E G H | 2562 | 2382 | | | | ORPHA | 1 | | 838 | 4083 | 137192 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | GABRB3 CL E G H | 2562 | 2382 | | | | ORPHA | 1 | | 838 | 4083 | 137192 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | GABRB3 CL E G H | 2562 | 2382 | | | | ORPHA | 1 | | 838 | 4083 | 137192 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | GABRB3 CL E G H | 2562 | 2382 | | | | ORPHA | 1 | | 838 | 4083 | 137192 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | GABRB3 CL E G H | 2562 | 2382 | | | | ORPHA | 1 | | 838 | 4083 | 137192 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | GABRB3 CL E G H | 2562 | 2382 | | | | ORPHA | 1 | | 838 | 4083 | 137192 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | GABRB3 CL E G H | 2562 | 2382 | | | | ORPHA | 1 | | 838 | 4083 | 137192 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | GABRB3 CL E G H | 2562 | 2382 | | | | ORPHA | 1 | | 838 | 4083 | 137192 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | GABRB3 CL E G H | 2562 | 2382 | | | | ORPHA | 1 | | 838 | 4083 | 137192 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | GBA CL E G H | 2629 | 77261 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | GBA CL E G H | 2629 | 77260 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | GBA CL E G H | 2629 | 77261 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | GBA CL E G H | 2629 | 77260 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | GBA CL E G H | 2629 | 77260 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | GBA CL E G H | 2629 | 77260 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | GBA CL E G H | 2629 | 77261 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | GBA CL E G H | 2629 | 77261 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | GBA CL E G H | 2629 | 77261 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | GBA CL E G H | 2629 | 77260 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | GBA CL E G H | 2629 | 77260 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | GBA CL E G H | 2629 | 77260 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | GBA CL E G H | 2629 | 77260 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | GBA CL E G H | 2629 | 77261 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | GBA CL E G H | 2629 | 77260 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | GBA CL E G H | 2629 | 77261 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | GBA CL E G H | 2629 | 77261 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | GBA CL E G H | 2629 | 77261 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | GBA CL E G H | 2629 | 77260 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | GBA CL E G H | 2629 | 77261 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | GBA CL E G H | 2629 | 77260 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | GBA CL E G H | 2629 | 77261 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | GCDH CL E G H | 2639 | 25 | | | | ORPHA | 1 | | 720 | 4189 | 608801 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | GCDH CL E G H | 2639 | 25 | | | | ORPHA | 1 | | 720 | 4189 | 608801 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | GCDH CL E G H | 2639 | 25 | | | | ORPHA | 1 | | 720 | 4189 | 608801 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | GCDH CL E G H | 2639 | 25 | | | | ORPHA | 1 | | 720 | 4189 | 608801 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | GCDH CL E G H | 2639 | 25 | | | | ORPHA | 1 | | 720 | 4189 | 608801 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | GCDH CL E G H | 2639 | 25 | | | | ORPHA | 1 | | 720 | 4189 | 608801 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | GCDH CL E G H | 2639 | 25 | | | | ORPHA | 1 | | 720 | 4189 | 608801 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | GCDH CL E G H | 2639 | 25 | | | | ORPHA | 1 | | 720 | 4189 | 608801 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | GCDH CL E G H | 2639 | 25 | | | | ORPHA | 1 | | 720 | 4189 | 608801 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | GCDH CL E G H | 2639 | 25 | | | | ORPHA | 1 | | 720 | 4189 | 608801 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | GCDH CL E G H | 2639 | 25 | | | | ORPHA | 1 | | 720 | 4189 | 608801 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | GCSH CL E G H | 2653 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 176 | 4208 | 238330 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | GCSH CL E G H | 2653 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 176 | 4208 | 238330 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | GCSH CL E G H | 2653 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 176 | 4208 | 238330 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | GCSH CL E G H | 2653 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 176 | 4208 | 238330 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | GCSH CL E G H | 2653 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 176 | 4208 | 238330 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | GCSH CL E G H | 2653 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 176 | 4208 | 238330 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | GCSH CL E G H | 2653 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 176 | 4208 | 238330 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | GCSH CL E G H | 2653 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 176 | 4208 | 238330 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | GCSH CL E G H | 2653 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 176 | 4208 | 238330 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | GCSH CL E G H | 2653 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 176 | 4208 | 238330 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | GCSH CL E G H | 2653 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 176 | 4208 | 238330 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | GLDC CL E G H | 2731 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 2238 | 4313 | 238300 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | GLDC CL E G H | 2731 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 2238 | 4313 | 238300 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | GLDC CL E G H | 2731 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 2238 | 4313 | 238300 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | GLDC CL E G H | 2731 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 2238 | 4313 | 238300 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | GLDC CL E G H | 2731 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 2238 | 4313 | 238300 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | GLDC CL E G H | 2731 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 2238 | 4313 | 238300 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | GLDC CL E G H | 2731 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 2238 | 4313 | 238300 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | GLDC CL E G H | 2731 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 2238 | 4313 | 238300 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | GLDC CL E G H | 2731 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 2238 | 4313 | 238300 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | GLDC CL E G H | 2731 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 2238 | 4313 | 238300 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | GLDC CL E G H | 2731 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 2238 | 4313 | 238300 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | GLUL CL E G H | 2752 | 610015 | Glutamine deficiency, congenital | 610015 | C1864910 | OMIM | 1 | | 256 | 4341 | 138290 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | GLUL CL E G H | 2752 | 610015 | Glutamine deficiency, congenital | 610015 | C1864910 | OMIM | 1 | | 256 | 4341 | 138290 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | GLUL CL E G H | 2752 | 610015 | Glutamine deficiency, congenital | 610015 | C1864910 | OMIM | 1 | | 256 | 4341 | 138290 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | GLUL CL E G H | 2752 | 610015 | Glutamine deficiency, congenital | 610015 | C1864910 | OMIM | 1 | | 256 | 4341 | 138290 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | GLUL CL E G H | 2752 | 610015 | Glutamine deficiency, congenital | 610015 | C1864910 | OMIM | 1 | | 256 | 4341 | 138290 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | GLUL CL E G H | 2752 | 610015 | Glutamine deficiency, congenital | 610015 | C1864910 | OMIM | 1 | | 256 | 4341 | 138290 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | GLUL CL E G H | 2752 | 610015 | Glutamine deficiency, congenital | 610015 | C1864910 | OMIM | 1 | | 256 | 4341 | 138290 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | GLUL CL E G H | 2752 | 610015 | Glutamine deficiency, congenital | 610015 | C1864910 | OMIM | 1 | | 256 | 4341 | 138290 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | GLUL CL E G H | 2752 | 610015 | Glutamine deficiency, congenital | 610015 | C1864910 | OMIM | 1 | | 256 | 4341 | 138290 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | GLUL CL E G H | 2752 | 610015 | Glutamine deficiency, congenital | 610015 | C1864910 | OMIM | 1 | | 256 | 4341 | 138290 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | GLUL CL E G H | 2752 | 610015 | Glutamine deficiency, congenital | 610015 | C1864910 | OMIM | 1 | | 256 | 4341 | 138290 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | GLYCTK CL E G H | 132158 | 220120 | Deficiency of glycerate kinase | 220120 | C1291386 | OMIM | 1 | | 166 | 24247 | 610516 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | GLYCTK CL E G H | 132158 | 220120 | Deficiency of glycerate kinase | 220120 | C1291386 | OMIM | 1 | | 166 | 24247 | 610516 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | GLYCTK CL E G H | 132158 | 220120 | Deficiency of glycerate kinase | 220120 | C1291386 | OMIM | 1 | | 166 | 24247 | 610516 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | GLYCTK CL E G H | 132158 | 220120 | Deficiency of glycerate kinase | 220120 | C1291386 | OMIM | 1 | | 166 | 24247 | 610516 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | GLYCTK CL E G H | 132158 | 220120 | Deficiency of glycerate kinase | 220120 | C1291386 | OMIM | 1 | | 166 | 24247 | 610516 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | GLYCTK CL E G H | 132158 | 220120 | Deficiency of glycerate kinase | 220120 | C1291386 | OMIM | 1 | | 166 | 24247 | 610516 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | GLYCTK CL E G H | 132158 | 220120 | Deficiency of glycerate kinase | 220120 | C1291386 | OMIM | 1 | | 166 | 24247 | 610516 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | GLYCTK CL E G H | 132158 | 220120 | Deficiency of glycerate kinase | 220120 | C1291386 | OMIM | 1 | | 166 | 24247 | 610516 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | GLYCTK CL E G H | 132158 | 220120 | Deficiency of glycerate kinase | 220120 | C1291386 | OMIM | 1 | | 166 | 24247 | 610516 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | GLYCTK CL E G H | 132158 | 220120 | Deficiency of glycerate kinase | 220120 | C1291386 | OMIM | 1 | | 166 | 24247 | 610516 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | GLYCTK CL E G H | 132158 | 220120 | Deficiency of glycerate kinase | 220120 | C1291386 | OMIM | 1 | | 166 | 24247 | 610516 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | GPT2 CL E G H | 84706 | 616281 | Mental retardation, autosomal recessive 49 | 616281 | C4225388 | OMIM | 1 | | 109 | 18062 | 138210 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | GPT2 CL E G H | 84706 | 616281 | Mental retardation, autosomal recessive 49 | 616281 | C4225388 | OMIM | 1 | | 109 | 18062 | 138210 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | GPT2 CL E G H | 84706 | 616281 | Mental retardation, autosomal recessive 49 | 616281 | C4225388 | OMIM | 1 | | 109 | 18062 | 138210 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | GPT2 CL E G H | 84706 | 616281 | Mental retardation, autosomal recessive 49 | 616281 | C4225388 | OMIM | 1 | | 109 | 18062 | 138210 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | GPT2 CL E G H | 84706 | 616281 | Mental retardation, autosomal recessive 49 | 616281 | C4225388 | OMIM | 1 | | 109 | 18062 | 138210 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | GPT2 CL E G H | 84706 | 616281 | Mental retardation, autosomal recessive 49 | 616281 | C4225388 | OMIM | 1 | | 109 | 18062 | 138210 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | GPT2 CL E G H | 84706 | 616281 | Mental retardation, autosomal recessive 49 | 616281 | C4225388 | OMIM | 1 | | 109 | 18062 | 138210 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | GPT2 CL E G H | 84706 | 616281 | Mental retardation, autosomal recessive 49 | 616281 | C4225388 | OMIM | 1 | | 109 | 18062 | 138210 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | GPT2 CL E G H | 84706 | 616281 | Mental retardation, autosomal recessive 49 | 616281 | C4225388 | OMIM | 1 | | 109 | 18062 | 138210 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | GPT2 CL E G H | 84706 | 616281 | Mental retardation, autosomal recessive 49 | 616281 | C4225388 | OMIM | 1 | | 109 | 18062 | 138210 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | GPT2 CL E G H | 84706 | 616281 | Mental retardation, autosomal recessive 49 | 616281 | C4225388 | OMIM | 1 | | 109 | 18062 | 138210 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 1 | | 823 | 4588 | 602717 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 1 | | 823 | 4588 | 602717 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 1 | | 823 | 4588 | 602717 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 1 | | 823 | 4588 | 602717 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 1 | | 823 | 4588 | 602717 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 1 | | 823 | 4588 | 602717 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 1 | | 823 | 4588 | 602717 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 1 | | 823 | 4588 | 602717 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 1 | | 823 | 4588 | 602717 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 1 | | 823 | 4588 | 602717 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 1 | | 823 | 4588 | 602717 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 1 | | 796 | 4845 | 602780 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 1 | | 796 | 4845 | 602780 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 1 | | 796 | 4845 | 602780 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 1 | | 796 | 4845 | 602780 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 1 | | 796 | 4845 | 602780 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 1 | | 796 | 4845 | 602780 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 1 | | 796 | 4845 | 602780 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 1 | | 796 | 4845 | 602780 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 1 | | 796 | 4845 | 602780 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 1 | | 796 | 4845 | 602780 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 1 | | 796 | 4845 | 602780 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 271 | 27302 | 615316 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 271 | 27302 | 615316 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 271 | 27302 | 615316 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 271 | 27302 | 615316 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 271 | 27302 | 615316 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 271 | 27302 | 615316 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 271 | 27302 | 615316 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 271 | 27302 | 615316 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 271 | 27302 | 615316 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 271 | 27302 | 615316 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 271 | 27302 | 615316 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | ITPA CL E G H | 3704 | 616647 | Epileptic encephalopathy, early infantile, 35 | 616647 | C4225256 | OMIM | 1 | | 319 | 6176 | 147520 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | ITPA CL E G H | 3704 | 616647 | Epileptic encephalopathy, early infantile, 35 | 616647 | C4225256 | OMIM | 1 | | 319 | 6176 | 147520 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | ITPA CL E G H | 3704 | 616647 | Epileptic encephalopathy, early infantile, 35 | 616647 | C4225256 | OMIM | 1 | | 319 | 6176 | 147520 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | ITPA CL E G H | 3704 | 616647 | Epileptic encephalopathy, early infantile, 35 | 616647 | C4225256 | OMIM | 1 | | 319 | 6176 | 147520 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | ITPA CL E G H | 3704 | 616647 | Epileptic encephalopathy, early infantile, 35 | 616647 | C4225256 | OMIM | 1 | | 319 | 6176 | 147520 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | ITPA CL E G H | 3704 | 616647 | Epileptic encephalopathy, early infantile, 35 | 616647 | C4225256 | OMIM | 1 | | 319 | 6176 | 147520 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | ITPA CL E G H | 3704 | 616647 | Epileptic encephalopathy, early infantile, 35 | 616647 | C4225256 | OMIM | 1 | | 319 | 6176 | 147520 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | ITPA CL E G H | 3704 | 616647 | Epileptic encephalopathy, early infantile, 35 | 616647 | C4225256 | OMIM | 1 | | 319 | 6176 | 147520 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | ITPA CL E G H | 3704 | 616647 | Epileptic encephalopathy, early infantile, 35 | 616647 | C4225256 | OMIM | 1 | | 319 | 6176 | 147520 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | ITPA CL E G H | 3704 | 616647 | Epileptic encephalopathy, early infantile, 35 | 616647 | C4225256 | OMIM | 1 | | 319 | 6176 | 147520 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | ITPA CL E G H | 3704 | 616647 | Epileptic encephalopathy, early infantile, 35 | 616647 | C4225256 | OMIM | 1 | | 319 | 6176 | 147520 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 1 | | 401 | 6220 | 176262 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 1 | | 401 | 6220 | 176262 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 1 | | 401 | 6220 | 176262 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 1 | | 401 | 6220 | 176262 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 1 | | 401 | 6220 | 176262 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 1 | | 401 | 6220 | 176262 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 1 | | 401 | 6220 | 176262 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 1 | | 401 | 6220 | 176262 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 1 | | 401 | 6220 | 176262 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 1 | | 401 | 6220 | 176262 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 1 | | 401 | 6220 | 176262 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 1 | | 635 | 6231 | 600397 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 1 | | 635 | 6231 | 600397 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 1 | | 635 | 6231 | 600397 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 1 | | 635 | 6231 | 600397 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 1 | | 635 | 6231 | 600397 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 1 | | 635 | 6231 | 600397 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 1 | | 635 | 6231 | 600397 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 1 | | 635 | 6231 | 600397 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 1 | | 635 | 6231 | 600397 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 1 | | 635 | 6231 | 600397 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 1 | | 635 | 6231 | 600397 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | KYNU CL E G H | 8942 | 79155 | | | | ORPHA | 1 | | 81 | 6469 | 605197 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | KYNU CL E G H | 8942 | 79155 | | | | ORPHA | 1 | | 81 | 6469 | 605197 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | KYNU CL E G H | 8942 | 79155 | | | | ORPHA | 1 | | 81 | 6469 | 605197 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | KYNU CL E G H | 8942 | 79155 | | | | ORPHA | 1 | | 81 | 6469 | 605197 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | KYNU CL E G H | 8942 | 79155 | | | | ORPHA | 1 | | 81 | 6469 | 605197 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | KYNU CL E G H | 8942 | 79155 | | | | ORPHA | 1 | | 81 | 6469 | 605197 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | KYNU CL E G H | 8942 | 79155 | | | | ORPHA | 1 | | 81 | 6469 | 605197 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | KYNU CL E G H | 8942 | 79155 | | | | ORPHA | 1 | | 81 | 6469 | 605197 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | KYNU CL E G H | 8942 | 79155 | | | | ORPHA | 1 | | 81 | 6469 | 605197 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | KYNU CL E G H | 8942 | 79155 | | | | ORPHA | 1 | | 81 | 6469 | 605197 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | KYNU CL E G H | 8942 | 79155 | | | | ORPHA | 1 | | 81 | 6469 | 605197 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | LIAS CL E G H | 11019 | 614462 | Pyruvate dehydrogenase lipoic acid synthetase deficiency | 614462 | C3280887 | OMIM | 1 | | 410 | 16429 | 607031 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | LIAS CL E G H | 11019 | 614462 | Pyruvate dehydrogenase lipoic acid synthetase deficiency | 614462 | C3280887 | OMIM | 1 | | 410 | 16429 | 607031 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | LIAS CL E G H | 11019 | 614462 | Pyruvate dehydrogenase lipoic acid synthetase deficiency | 614462 | C3280887 | OMIM | 1 | | 410 | 16429 | 607031 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | LIAS CL E G H | 11019 | 614462 | Pyruvate dehydrogenase lipoic acid synthetase deficiency | 614462 | C3280887 | OMIM | 1 | | 410 | 16429 | 607031 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | LIAS CL E G H | 11019 | 614462 | Pyruvate dehydrogenase lipoic acid synthetase deficiency | 614462 | C3280887 | OMIM | 1 | | 410 | 16429 | 607031 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | LIAS CL E G H | 11019 | 614462 | Pyruvate dehydrogenase lipoic acid synthetase deficiency | 614462 | C3280887 | OMIM | 1 | | 410 | 16429 | 607031 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | LIAS CL E G H | 11019 | 614462 | Pyruvate dehydrogenase lipoic acid synthetase deficiency | 614462 | C3280887 | OMIM | 1 | | 410 | 16429 | 607031 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | LIAS CL E G H | 11019 | 614462 | Pyruvate dehydrogenase lipoic acid synthetase deficiency | 614462 | C3280887 | OMIM | 1 | | 410 | 16429 | 607031 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | LIAS CL E G H | 11019 | 614462 | Pyruvate dehydrogenase lipoic acid synthetase deficiency | 614462 | C3280887 | OMIM | 1 | | 410 | 16429 | 607031 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | LIAS CL E G H | 11019 | 614462 | Pyruvate dehydrogenase lipoic acid synthetase deficiency | 614462 | C3280887 | OMIM | 1 | | 410 | 16429 | 607031 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | LIAS CL E G H | 11019 | 614462 | Pyruvate dehydrogenase lipoic acid synthetase deficiency | 614462 | C3280887 | OMIM | 1 | | 410 | 16429 | 607031 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | LIPT2 CL E G H | 387787 | 617668 | ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES | 617668 | C4540052 | OMIM | 1 | | 113 | 37216 | 617659 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | LIPT2 CL E G H | 387787 | 617668 | ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES | 617668 | C4540052 | OMIM | 1 | | 113 | 37216 | 617659 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | LIPT2 CL E G H | 387787 | 617668 | ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES | 617668 | C4540052 | OMIM | 1 | | 113 | 37216 | 617659 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | LIPT2 CL E G H | 387787 | 617668 | ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES | 617668 | C4540052 | OMIM | 1 | | 113 | 37216 | 617659 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | LIPT2 CL E G H | 387787 | 617668 | ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES | 617668 | C4540052 | OMIM | 1 | | 113 | 37216 | 617659 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | LIPT2 CL E G H | 387787 | 617668 | ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES | 617668 | C4540052 | OMIM | 1 | | 113 | 37216 | 617659 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | LIPT2 CL E G H | 387787 | 617668 | ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES | 617668 | C4540052 | OMIM | 1 | | 113 | 37216 | 617659 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | LIPT2 CL E G H | 387787 | 617668 | ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES | 617668 | C4540052 | OMIM | 1 | | 113 | 37216 | 617659 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | LIPT2 CL E G H | 387787 | 617668 | ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES | 617668 | C4540052 | OMIM | 1 | | 113 | 37216 | 617659 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | LIPT2 CL E G H | 387787 | 617668 | ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES | 617668 | C4540052 | OMIM | 1 | | 113 | 37216 | 617659 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | LIPT2 CL E G H | 387787 | 617668 | ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES | 617668 | C4540052 | OMIM | 1 | | 113 | 37216 | 617659 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | LYRM7 CL E G H | 90624 | 615838 | Mitochondrial complex III deficiency, nuclear type 8 | 615838 | C4014440 | OMIM | 1 | | 92 | 28072 | 615831 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | LYRM7 CL E G H | 90624 | 615838 | Mitochondrial complex III deficiency, nuclear type 8 | 615838 | C4014440 | OMIM | 1 | | 92 | 28072 | 615831 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | LYRM7 CL E G H | 90624 | 615838 | Mitochondrial complex III deficiency, nuclear type 8 | 615838 | C4014440 | OMIM | 1 | | 92 | 28072 | 615831 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | LYRM7 CL E G H | 90624 | 615838 | Mitochondrial complex III deficiency, nuclear type 8 | 615838 | C4014440 | OMIM | 1 | | 92 | 28072 | 615831 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | LYRM7 CL E G H | 90624 | 615838 | Mitochondrial complex III deficiency, nuclear type 8 | 615838 | C4014440 | OMIM | 1 | | 92 | 28072 | 615831 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | LYRM7 CL E G H | 90624 | 615838 | Mitochondrial complex III deficiency, nuclear type 8 | 615838 | C4014440 | OMIM | 1 | | 92 | 28072 | 615831 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | LYRM7 CL E G H | 90624 | 615838 | Mitochondrial complex III deficiency, nuclear type 8 | 615838 | C4014440 | OMIM | 1 | | 92 | 28072 | 615831 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | LYRM7 CL E G H | 90624 | 615838 | Mitochondrial complex III deficiency, nuclear type 8 | 615838 | C4014440 | OMIM | 1 | | 92 | 28072 | 615831 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | LYRM7 CL E G H | 90624 | 615838 | Mitochondrial complex III deficiency, nuclear type 8 | 615838 | C4014440 | OMIM | 1 | | 92 | 28072 | 615831 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | LYRM7 CL E G H | 90624 | 615838 | Mitochondrial complex III deficiency, nuclear type 8 | 615838 | C4014440 | OMIM | 1 | | 92 | 28072 | 615831 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | LYRM7 CL E G H | 90624 | 615838 | Mitochondrial complex III deficiency, nuclear type 8 | 615838 | C4014440 | OMIM | 1 | | 92 | 28072 | 615831 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | MAPK10 CL E G H | 5602 | 2382 | | | | ORPHA | 1 | | 70 | 6872 | 602897 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | MAPK10 CL E G H | 5602 | 2382 | | | | ORPHA | 1 | | 70 | 6872 | 602897 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | MAPK10 CL E G H | 5602 | 2382 | | | | ORPHA | 1 | | 70 | 6872 | 602897 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | MAPK10 CL E G H | 5602 | 2382 | | | | ORPHA | 1 | | 70 | 6872 | 602897 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | MAPK10 CL E G H | 5602 | 2382 | | | | ORPHA | 1 | | 70 | 6872 | 602897 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | MAPK10 CL E G H | 5602 | 2382 | | | | ORPHA | 1 | | 70 | 6872 | 602897 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | MAPK10 CL E G H | 5602 | 2382 | | | | ORPHA | 1 | | 70 | 6872 | 602897 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | MAPK10 CL E G H | 5602 | 2382 | | | | ORPHA | 1 | | 70 | 6872 | 602897 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | MAPK10 CL E G H | 5602 | 2382 | | | | ORPHA | 1 | | 70 | 6872 | 602897 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | MAPK10 CL E G H | 5602 | 2382 | | | | ORPHA | 1 | | 70 | 6872 | 602897 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | MAPK10 CL E G H | 5602 | 2382 | | | | ORPHA | 1 | | 70 | 6872 | 602897 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | MECP2 CL E G H | 4204 | 300673 | Severe neonatal-onset encephalopathy with microcephaly | 300673 | C1968556 | OMIM | 1 | | 1925 | 6990 | 300005 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | MECP2 CL E G H | 4204 | 300673 | Severe neonatal-onset encephalopathy with microcephaly | 300673 | C1968556 | OMIM | 1 | | 1925 | 6990 | 300005 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | MECP2 CL E G H | 4204 | 300673 | Severe neonatal-onset encephalopathy with microcephaly | 300673 | C1968556 | OMIM | 1 | | 1925 | 6990 | 300005 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | MECP2 CL E G H | 4204 | 300673 | Severe neonatal-onset encephalopathy with microcephaly | 300673 | C1968556 | OMIM | 1 | | 1925 | 6990 | 300005 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | MECP2 CL E G H | 4204 | 300673 | Severe neonatal-onset encephalopathy with microcephaly | 300673 | C1968556 | OMIM | 1 | | 1925 | 6990 | 300005 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | MECP2 CL E G H | 4204 | 300673 | Severe neonatal-onset encephalopathy with microcephaly | 300673 | C1968556 | OMIM | 1 | | 1925 | 6990 | 300005 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | MECP2 CL E G H | 4204 | 300673 | Severe neonatal-onset encephalopathy with microcephaly | 300673 | C1968556 | OMIM | 1 | | 1925 | 6990 | 300005 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | MECP2 CL E G H | 4204 | 300673 | Severe neonatal-onset encephalopathy with microcephaly | 300673 | C1968556 | OMIM | 1 | | 1925 | 6990 | 300005 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | MECP2 CL E G H | 4204 | 300673 | Severe neonatal-onset encephalopathy with microcephaly | 300673 | C1968556 | OMIM | 1 | | 1925 | 6990 | 300005 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | MECP2 CL E G H | 4204 | 300673 | Severe neonatal-onset encephalopathy with microcephaly | 300673 | C1968556 | OMIM | 1 | | 1925 | 6990 | 300005 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | MECP2 CL E G H | 4204 | 300673 | Severe neonatal-onset encephalopathy with microcephaly | 300673 | C1968556 | OMIM | 1 | | 1925 | 6990 | 300005 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | MT-CO1 CL E G H | 4512 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7419 | 516030 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | MT-CO1 CL E G H | 4512 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7419 | 516030 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | MT-CO1 CL E G H | 4512 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7419 | 516030 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | MT-CO1 CL E G H | 4512 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7419 | 516030 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | MT-CO1 CL E G H | 4512 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7419 | 516030 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | MT-CO1 CL E G H | 4512 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7419 | 516030 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | MT-CO1 CL E G H | 4512 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7419 | 516030 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | MT-CO1 CL E G H | 4512 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7419 | 516030 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | MT-CO1 CL E G H | 4512 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7419 | 516030 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | MT-CO1 CL E G H | 4512 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7419 | 516030 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | MT-CO1 CL E G H | 4512 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7419 | 516030 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | MT-CO2 CL E G H | 4513 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7421 | 516040 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | MT-CO2 CL E G H | 4513 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7421 | 516040 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | MT-CO2 CL E G H | 4513 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7421 | 516040 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | MT-CO2 CL E G H | 4513 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7421 | 516040 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | MT-CO2 CL E G H | 4513 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7421 | 516040 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | MT-CO2 CL E G H | 4513 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7421 | 516040 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | MT-CO2 CL E G H | 4513 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7421 | 516040 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | MT-CO2 CL E G H | 4513 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7421 | 516040 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | MT-CO2 CL E G H | 4513 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7421 | 516040 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | MT-CO2 CL E G H | 4513 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7421 | 516040 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | MT-CO2 CL E G H | 4513 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7421 | 516040 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | MT-CO3 CL E G H | 4514 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7422 | 516050 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | MT-CO3 CL E G H | 4514 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7422 | 516050 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | MT-CO3 CL E G H | 4514 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7422 | 516050 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | MT-CO3 CL E G H | 4514 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7422 | 516050 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | MT-CO3 CL E G H | 4514 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7422 | 516050 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | MT-CO3 CL E G H | 4514 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7422 | 516050 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | MT-CO3 CL E G H | 4514 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7422 | 516050 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | MT-CO3 CL E G H | 4514 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7422 | 516050 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | MT-CO3 CL E G H | 4514 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7422 | 516050 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | MT-CO3 CL E G H | 4514 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7422 | 516050 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | MT-CO3 CL E G H | 4514 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7422 | 516050 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | MT-CYB CL E G H | 4519 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7427 | 516020 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | MT-CYB CL E G H | 4519 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7427 | 516020 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | MT-CYB CL E G H | 4519 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7427 | 516020 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | MT-CYB CL E G H | 4519 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7427 | 516020 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | MT-CYB CL E G H | 4519 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7427 | 516020 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | MT-CYB CL E G H | 4519 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7427 | 516020 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | MT-CYB CL E G H | 4519 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7427 | 516020 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | MT-CYB CL E G H | 4519 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7427 | 516020 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | MT-CYB CL E G H | 4519 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7427 | 516020 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | MT-CYB CL E G H | 4519 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7427 | 516020 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | MT-CYB CL E G H | 4519 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7427 | 516020 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | MT-ND1 CL E G H | 4535 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7455 | 516000 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | MT-ND1 CL E G H | 4535 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7455 | 516000 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | MT-ND1 CL E G H | 4535 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7455 | 516000 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | MT-ND1 CL E G H | 4535 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7455 | 516000 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | MT-ND1 CL E G H | 4535 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7455 | 516000 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | MT-ND1 CL E G H | 4535 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7455 | 516000 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | MT-ND1 CL E G H | 4535 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7455 | 516000 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | MT-ND1 CL E G H | 4535 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7455 | 516000 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | MT-ND1 CL E G H | 4535 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7455 | 516000 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | MT-ND1 CL E G H | 4535 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7455 | 516000 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | MT-ND1 CL E G H | 4535 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7455 | 516000 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | MT-ND5 CL E G H | 4540 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7461 | 516005 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | MT-ND5 CL E G H | 4540 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7461 | 516005 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | MT-ND5 CL E G H | 4540 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7461 | 516005 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | MT-ND5 CL E G H | 4540 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7461 | 516005 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | MT-ND5 CL E G H | 4540 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7461 | 516005 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | MT-ND5 CL E G H | 4540 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7461 | 516005 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | MT-ND5 CL E G H | 4540 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7461 | 516005 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | MT-ND5 CL E G H | 4540 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7461 | 516005 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | MT-ND5 CL E G H | 4540 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7461 | 516005 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | MT-ND5 CL E G H | 4540 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7461 | 516005 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | MT-ND5 CL E G H | 4540 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7461 | 516005 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | MT-ND6 CL E G H | 4541 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7462 | 516006 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | MT-ND6 CL E G H | 4541 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7462 | 516006 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | MT-ND6 CL E G H | 4541 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7462 | 516006 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | MT-ND6 CL E G H | 4541 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7462 | 516006 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | MT-ND6 CL E G H | 4541 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7462 | 516006 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | MT-ND6 CL E G H | 4541 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7462 | 516006 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | MT-ND6 CL E G H | 4541 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7462 | 516006 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | MT-ND6 CL E G H | 4541 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7462 | 516006 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | MT-ND6 CL E G H | 4541 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7462 | 516006 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | MT-ND6 CL E G H | 4541 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7462 | 516006 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | MT-ND6 CL E G H | 4541 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7462 | 516006 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | MT-TC CL E G H | 4511 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7477 | 590020 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | MT-TC CL E G H | 4511 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7477 | 590020 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | MT-TC CL E G H | 4511 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7477 | 590020 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | MT-TC CL E G H | 4511 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7477 | 590020 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | MT-TC CL E G H | 4511 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7477 | 590020 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | MT-TC CL E G H | 4511 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7477 | 590020 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | MT-TC CL E G H | 4511 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7477 | 590020 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | MT-TC CL E G H | 4511 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7477 | 590020 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | MT-TC CL E G H | 4511 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7477 | 590020 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | MT-TC CL E G H | 4511 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7477 | 590020 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | MT-TC CL E G H | 4511 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7477 | 590020 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | MT-TF CL E G H | 4558 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7481 | 590070 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | MT-TF CL E G H | 4558 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7481 | 590070 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | MT-TF CL E G H | 4558 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7481 | 590070 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | MT-TF CL E G H | 4558 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7481 | 590070 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | MT-TF CL E G H | 4558 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7481 | 590070 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | MT-TF CL E G H | 4558 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7481 | 590070 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | MT-TF CL E G H | 4558 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7481 | 590070 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | MT-TF CL E G H | 4558 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7481 | 590070 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | MT-TF CL E G H | 4558 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7481 | 590070 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | MT-TF CL E G H | 4558 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7481 | 590070 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | MT-TF CL E G H | 4558 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7481 | 590070 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | MT-TK CL E G H | 4566 | 1349 | Chromosome 9, partial monosomy 9p | | C2931695 | ORPHA | 1 | | | 7489 | 590060 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | MT-TK CL E G H | 4566 | 1349 | Chromosome 9, partial monosomy 9p | | C2931695 | ORPHA | 1 | | | 7489 | 590060 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | MT-TK CL E G H | 4566 | 1349 | Chromosome 9, partial monosomy 9p | | C2931695 | ORPHA | 1 | | | 7489 | 590060 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | MT-TK CL E G H | 4566 | 1349 | Chromosome 9, partial monosomy 9p | | C2931695 | ORPHA | 1 | | | 7489 | 590060 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | MT-TK CL E G H | 4566 | 1349 | Chromosome 9, partial monosomy 9p | | C2931695 | ORPHA | 1 | | | 7489 | 590060 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | MT-TK CL E G H | 4566 | 1349 | Chromosome 9, partial monosomy 9p | | C2931695 | ORPHA | 1 | | | 7489 | 590060 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | MT-TK CL E G H | 4566 | 1349 | Chromosome 9, partial monosomy 9p | | C2931695 | ORPHA | 1 | | | 7489 | 590060 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | MT-TK CL E G H | 4566 | 1349 | Chromosome 9, partial monosomy 9p | | C2931695 | ORPHA | 1 | | | 7489 | 590060 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | MT-TK CL E G H | 4566 | 1349 | Chromosome 9, partial monosomy 9p | | C2931695 | ORPHA | 1 | | | 7489 | 590060 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | MT-TK CL E G H | 4566 | 1349 | Chromosome 9, partial monosomy 9p | | C2931695 | ORPHA | 1 | | | 7489 | 590060 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | MT-TK CL E G H | 4566 | 1349 | Chromosome 9, partial monosomy 9p | | C2931695 | ORPHA | 1 | | | 7489 | 590060 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | MT-TK CL E G H | 4566 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7489 | 590060 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | MT-TK CL E G H | 4566 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7489 | 590060 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | MT-TK CL E G H | 4566 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7489 | 590060 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | MT-TK CL E G H | 4566 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7489 | 590060 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | MT-TK CL E G H | 4566 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7489 | 590060 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | MT-TK CL E G H | 4566 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7489 | 590060 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | MT-TK CL E G H | 4566 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7489 | 590060 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | MT-TK CL E G H | 4566 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7489 | 590060 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | MT-TK CL E G H | 4566 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7489 | 590060 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | MT-TK CL E G H | 4566 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7489 | 590060 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | MT-TK CL E G H | 4566 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7489 | 590060 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | MT-TL1 CL E G H | 4567 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7490 | 590050 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | MT-TL1 CL E G H | 4567 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7490 | 590050 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | MT-TL1 CL E G H | 4567 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7490 | 590050 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | MT-TL1 CL E G H | 4567 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7490 | 590050 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | MT-TL1 CL E G H | 4567 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7490 | 590050 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | MT-TL1 CL E G H | 4567 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7490 | 590050 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | MT-TL1 CL E G H | 4567 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7490 | 590050 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | MT-TL1 CL E G H | 4567 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7490 | 590050 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | MT-TL1 CL E G H | 4567 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7490 | 590050 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | MT-TL1 CL E G H | 4567 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7490 | 590050 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | MT-TL1 CL E G H | 4567 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7490 | 590050 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | MT-TQ CL E G H | 4572 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7495 | 590030 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | MT-TQ CL E G H | 4572 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7495 | 590030 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | MT-TQ CL E G H | 4572 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7495 | 590030 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | MT-TQ CL E G H | 4572 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7495 | 590030 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | MT-TQ CL E G H | 4572 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7495 | 590030 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | MT-TQ CL E G H | 4572 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7495 | 590030 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | MT-TQ CL E G H | 4572 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7495 | 590030 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | MT-TQ CL E G H | 4572 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7495 | 590030 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | MT-TQ CL E G H | 4572 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7495 | 590030 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | MT-TQ CL E G H | 4572 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7495 | 590030 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | MT-TQ CL E G H | 4572 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7495 | 590030 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | MT-TS1 CL E G H | 4574 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7497 | 590080 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | MT-TS1 CL E G H | 4574 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7497 | 590080 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | MT-TS1 CL E G H | 4574 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7497 | 590080 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | MT-TS1 CL E G H | 4574 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7497 | 590080 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | MT-TS1 CL E G H | 4574 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7497 | 590080 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | MT-TS1 CL E G H | 4574 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7497 | 590080 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | MT-TS1 CL E G H | 4574 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7497 | 590080 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | MT-TS1 CL E G H | 4574 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7497 | 590080 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | MT-TS1 CL E G H | 4574 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7497 | 590080 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | MT-TS1 CL E G H | 4574 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7497 | 590080 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | MT-TS1 CL E G H | 4574 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7497 | 590080 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | MT-TS2 CL E G H | 4575 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7498 | 590085 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | MT-TS2 CL E G H | 4575 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7498 | 590085 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | MT-TS2 CL E G H | 4575 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7498 | 590085 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | MT-TS2 CL E G H | 4575 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7498 | 590085 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | MT-TS2 CL E G H | 4575 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7498 | 590085 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | MT-TS2 CL E G H | 4575 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7498 | 590085 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | MT-TS2 CL E G H | 4575 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7498 | 590085 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | MT-TS2 CL E G H | 4575 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7498 | 590085 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | MT-TS2 CL E G H | 4575 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7498 | 590085 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | MT-TS2 CL E G H | 4575 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7498 | 590085 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | MT-TS2 CL E G H | 4575 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7498 | 590085 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | MT-TV CL E G H | 4577 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7500 | 590105 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | MT-TV CL E G H | 4577 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7500 | 590105 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | MT-TV CL E G H | 4577 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7500 | 590105 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | MT-TV CL E G H | 4577 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7500 | 590105 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | MT-TV CL E G H | 4577 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7500 | 590105 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | MT-TV CL E G H | 4577 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7500 | 590105 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | MT-TV CL E G H | 4577 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7500 | 590105 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | MT-TV CL E G H | 4577 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7500 | 590105 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | MT-TV CL E G H | 4577 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7500 | 590105 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | MT-TV CL E G H | 4577 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7500 | 590105 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | MT-TV CL E G H | 4577 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7500 | 590105 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | MT-TW CL E G H | 4578 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7501 | 590095 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | MT-TW CL E G H | 4578 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7501 | 590095 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | MT-TW CL E G H | 4578 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7501 | 590095 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | MT-TW CL E G H | 4578 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7501 | 590095 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | MT-TW CL E G H | 4578 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7501 | 590095 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | MT-TW CL E G H | 4578 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7501 | 590095 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | MT-TW CL E G H | 4578 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7501 | 590095 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | MT-TW CL E G H | 4578 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7501 | 590095 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | MT-TW CL E G H | 4578 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7501 | 590095 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | MT-TW CL E G H | 4578 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7501 | 590095 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | MT-TW CL E G H | 4578 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7501 | 590095 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | NADK2 CL E G H | 133686 | 616034 | 2,4-Dienoyl-CoA reductase deficiency | 616034 | C1857252 | OMIM | 1 | | 221 | 26404 | 615787 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | NADK2 CL E G H | 133686 | 616034 | 2,4-Dienoyl-CoA reductase deficiency | 616034 | C1857252 | OMIM | 1 | | 221 | 26404 | 615787 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | NADK2 CL E G H | 133686 | 616034 | 2,4-Dienoyl-CoA reductase deficiency | 616034 | C1857252 | OMIM | 1 | | 221 | 26404 | 615787 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | NADK2 CL E G H | 133686 | 616034 | 2,4-Dienoyl-CoA reductase deficiency | 616034 | C1857252 | OMIM | 1 | | 221 | 26404 | 615787 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | NADK2 CL E G H | 133686 | 616034 | 2,4-Dienoyl-CoA reductase deficiency | 616034 | C1857252 | OMIM | 1 | | 221 | 26404 | 615787 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | NADK2 CL E G H | 133686 | 616034 | 2,4-Dienoyl-CoA reductase deficiency | 616034 | C1857252 | OMIM | 1 | | 221 | 26404 | 615787 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | NADK2 CL E G H | 133686 | 616034 | 2,4-Dienoyl-CoA reductase deficiency | 616034 | C1857252 | OMIM | 1 | | 221 | 26404 | 615787 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | NADK2 CL E G H | 133686 | 616034 | 2,4-Dienoyl-CoA reductase deficiency | 616034 | C1857252 | OMIM | 1 | | 221 | 26404 | 615787 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | NADK2 CL E G H | 133686 | 616034 | 2,4-Dienoyl-CoA reductase deficiency | 616034 | C1857252 | OMIM | 1 | | 221 | 26404 | 615787 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | NADK2 CL E G H | 133686 | 616034 | 2,4-Dienoyl-CoA reductase deficiency | 616034 | C1857252 | OMIM | 1 | | 221 | 26404 | 615787 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | NADK2 CL E G H | 133686 | 616034 | 2,4-Dienoyl-CoA reductase deficiency | 616034 | C1857252 | OMIM | 1 | | 221 | 26404 | 615787 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | NAXE CL E G H | 128240 | 617186 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy | 617186 | C4310675 | OMIM | 1 | | 146 | 18453 | 608862 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | NAXE CL E G H | 128240 | 617186 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy | 617186 | C4310675 | OMIM | 1 | | 146 | 18453 | 608862 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | NAXE CL E G H | 128240 | 617186 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy | 617186 | C4310675 | OMIM | 1 | | 146 | 18453 | 608862 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | NAXE CL E G H | 128240 | 617186 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy | 617186 | C4310675 | OMIM | 1 | | 146 | 18453 | 608862 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | NAXE CL E G H | 128240 | 617186 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy | 617186 | C4310675 | OMIM | 1 | | 146 | 18453 | 608862 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | NAXE CL E G H | 128240 | 617186 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy | 617186 | C4310675 | OMIM | 1 | | 146 | 18453 | 608862 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | NAXE CL E G H | 128240 | 617186 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy | 617186 | C4310675 | OMIM | 1 | | 146 | 18453 | 608862 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | NAXE CL E G H | 128240 | 617186 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy | 617186 | C4310675 | OMIM | 1 | | 146 | 18453 | 608862 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | NAXE CL E G H | 128240 | 617186 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy | 617186 | C4310675 | OMIM | 1 | | 146 | 18453 | 608862 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | NAXE CL E G H | 128240 | 617186 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy | 617186 | C4310675 | OMIM | 1 | | 146 | 18453 | 608862 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | NAXE CL E G H | 128240 | 617186 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy | 617186 | C4310675 | OMIM | 1 | | 146 | 18453 | 608862 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | NDUFA11 CL E G H | 126328 | 618236 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 | 618236 | | OMIM | 1 | | 131 | 20371 | 612638 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | NDUFA11 CL E G H | 126328 | 618236 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 | 618236 | | OMIM | 1 | | 131 | 20371 | 612638 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | NDUFA11 CL E G H | 126328 | 618236 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 | 618236 | | OMIM | 1 | | 131 | 20371 | 612638 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | NDUFA11 CL E G H | 126328 | 618236 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 | 618236 | | OMIM | 1 | | 131 | 20371 | 612638 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | NDUFA11 CL E G H | 126328 | 618236 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 | 618236 | | OMIM | 1 | | 131 | 20371 | 612638 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | NDUFA11 CL E G H | 126328 | 618236 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 | 618236 | | OMIM | 1 | | 131 | 20371 | 612638 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | NDUFA11 CL E G H | 126328 | 618236 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 | 618236 | | OMIM | 1 | | 131 | 20371 | 612638 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | NDUFA11 CL E G H | 126328 | 618236 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 | 618236 | | OMIM | 1 | | 131 | 20371 | 612638 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | NDUFA11 CL E G H | 126328 | 618236 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 | 618236 | | OMIM | 1 | | 131 | 20371 | 612638 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | NDUFA11 CL E G H | 126328 | 618236 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 | 618236 | | OMIM | 1 | | 131 | 20371 | 612638 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | NDUFA11 CL E G H | 126328 | 618236 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 | 618236 | | OMIM | 1 | | 131 | 20371 | 612638 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | NDUFA6 CL E G H | 4700 | 618253 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 | 618253 | | OMIM | 1 | | 90 | 7690 | 602138 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | NDUFA6 CL E G H | 4700 | 618253 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 | 618253 | | OMIM | 1 | | 90 | 7690 | 602138 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | NDUFA6 CL E G H | 4700 | 618253 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 | 618253 | | OMIM | 1 | | 90 | 7690 | 602138 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | NDUFA6 CL E G H | 4700 | 618253 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 | 618253 | | OMIM | 1 | | 90 | 7690 | 602138 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | NDUFA6 CL E G H | 4700 | 618253 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 | 618253 | | OMIM | 1 | | 90 | 7690 | 602138 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | NDUFA6 CL E G H | 4700 | 618253 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 | 618253 | | OMIM | 1 | | 90 | 7690 | 602138 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | NDUFA6 CL E G H | 4700 | 618253 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 | 618253 | | OMIM | 1 | | 90 | 7690 | 602138 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | NDUFA6 CL E G H | 4700 | 618253 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 | 618253 | | OMIM | 1 | | 90 | 7690 | 602138 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | NDUFA6 CL E G H | 4700 | 618253 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 | 618253 | | OMIM | 1 | | 90 | 7690 | 602138 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | NDUFA6 CL E G H | 4700 | 618253 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 | 618253 | | OMIM | 1 | | 90 | 7690 | 602138 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | NDUFA6 CL E G H | 4700 | 618253 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 | 618253 | | OMIM | 1 | | 90 | 7690 | 602138 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | NDUFAF1 CL E G H | 51103 | 618234 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 | 618234 | | OMIM | 1 | | 154 | 18828 | 606934 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | NDUFAF1 CL E G H | 51103 | 618234 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 | 618234 | | OMIM | 1 | | 154 | 18828 | 606934 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | NDUFAF1 CL E G H | 51103 | 618234 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 | 618234 | | OMIM | 1 | | 154 | 18828 | 606934 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | NDUFAF1 CL E G H | 51103 | 618234 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 | 618234 | | OMIM | 1 | | 154 | 18828 | 606934 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | NDUFAF1 CL E G H | 51103 | 618234 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 | 618234 | | OMIM | 1 | | 154 | 18828 | 606934 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | NDUFAF1 CL E G H | 51103 | 618234 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 | 618234 | | OMIM | 1 | | 154 | 18828 | 606934 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | NDUFAF1 CL E G H | 51103 | 618234 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 | 618234 | | OMIM | 1 | | 154 | 18828 | 606934 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | NDUFAF1 CL E G H | 51103 | 618234 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 | 618234 | | OMIM | 1 | | 154 | 18828 | 606934 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | NDUFAF1 CL E G H | 51103 | 618234 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 | 618234 | | OMIM | 1 | | 154 | 18828 | 606934 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | NDUFAF1 CL E G H | 51103 | 618234 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 | 618234 | | OMIM | 1 | | 154 | 18828 | 606934 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | NDUFAF1 CL E G H | 51103 | 618234 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 | 618234 | | OMIM | 1 | | 154 | 18828 | 606934 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | NDUFAF2 CL E G H | 91942 | 618233 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 | 618233 | | OMIM | 1 | | 132 | 28086 | 609653 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | NDUFAF2 CL E G H | 91942 | 618233 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 | 618233 | | OMIM | 1 | | 132 | 28086 | 609653 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | NDUFAF2 CL E G H | 91942 | 618233 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 | 618233 | | OMIM | 1 | | 132 | 28086 | 609653 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | NDUFAF2 CL E G H | 91942 | 618233 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 | 618233 | | OMIM | 1 | | 132 | 28086 | 609653 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | NDUFAF2 CL E G H | 91942 | 618233 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 | 618233 | | OMIM | 1 | | 132 | 28086 | 609653 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | NDUFAF2 CL E G H | 91942 | 618233 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 | 618233 | | OMIM | 1 | | 132 | 28086 | 609653 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | NDUFAF2 CL E G H | 91942 | 618233 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 | 618233 | | OMIM | 1 | | 132 | 28086 | 609653 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | NDUFAF2 CL E G H | 91942 | 618233 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 | 618233 | | OMIM | 1 | | 132 | 28086 | 609653 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | NDUFAF2 CL E G H | 91942 | 618233 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 | 618233 | | OMIM | 1 | | 132 | 28086 | 609653 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | NDUFAF2 CL E G H | 91942 | 618233 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 | 618233 | | OMIM | 1 | | 132 | 28086 | 609653 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | NDUFAF2 CL E G H | 91942 | 618233 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 | 618233 | | OMIM | 1 | | 132 | 28086 | 609653 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | NDUFAF4 CL E G H | 29078 | 618237 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15 | 618237 | | OMIM | 1 | | 136 | 21034 | 611776 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | NDUFAF4 CL E G H | 29078 | 618237 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15 | 618237 | | OMIM | 1 | | 136 | 21034 | 611776 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | NDUFAF4 CL E G H | 29078 | 618237 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15 | 618237 | | OMIM | 1 | | 136 | 21034 | 611776 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | NDUFAF4 CL E G H | 29078 | 618237 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15 | 618237 | | OMIM | 1 | | 136 | 21034 | 611776 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | NDUFAF4 CL E G H | 29078 | 618237 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15 | 618237 | | OMIM | 1 | | 136 | 21034 | 611776 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | NDUFAF4 CL E G H | 29078 | 618237 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15 | 618237 | | OMIM | 1 | | 136 | 21034 | 611776 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | NDUFAF4 CL E G H | 29078 | 618237 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15 | 618237 | | OMIM | 1 | | 136 | 21034 | 611776 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | NDUFAF4 CL E G H | 29078 | 618237 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15 | 618237 | | OMIM | 1 | | 136 | 21034 | 611776 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | NDUFAF4 CL E G H | 29078 | 618237 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15 | 618237 | | OMIM | 1 | | 136 | 21034 | 611776 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | NDUFAF4 CL E G H | 29078 | 618237 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15 | 618237 | | OMIM | 1 | | 136 | 21034 | 611776 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | NDUFAF4 CL E G H | 29078 | 618237 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15 | 618237 | | OMIM | 1 | | 136 | 21034 | 611776 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | NDUFB3 CL E G H | 4709 | 618246 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 | 618246 | | OMIM | 1 | | 79 | 7698 | 603839 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | NDUFB3 CL E G H | 4709 | 618246 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 | 618246 | | OMIM | 1 | | 79 | 7698 | 603839 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | NDUFB3 CL E G H | 4709 | 618246 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 | 618246 | | OMIM | 1 | | 79 | 7698 | 603839 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | NDUFB3 CL E G H | 4709 | 618246 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 | 618246 | | OMIM | 1 | | 79 | 7698 | 603839 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | NDUFB3 CL E G H | 4709 | 618246 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 | 618246 | | OMIM | 1 | | 79 | 7698 | 603839 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | NDUFB3 CL E G H | 4709 | 618246 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 | 618246 | | OMIM | 1 | | 79 | 7698 | 603839 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | NDUFB3 CL E G H | 4709 | 618246 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 | 618246 | | OMIM | 1 | | 79 | 7698 | 603839 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | NDUFB3 CL E G H | 4709 | 618246 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 | 618246 | | OMIM | 1 | | 79 | 7698 | 603839 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | NDUFB3 CL E G H | 4709 | 618246 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 | 618246 | | OMIM | 1 | | 79 | 7698 | 603839 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | NDUFB3 CL E G H | 4709 | 618246 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 | 618246 | | OMIM | 1 | | 79 | 7698 | 603839 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | NDUFB3 CL E G H | 4709 | 618246 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 | 618246 | | OMIM | 1 | | 79 | 7698 | 603839 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | NDUFS3 CL E G H | 4722 | 618230 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 | 618230 | | OMIM | 1 | | 147 | 7710 | 603846 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | NDUFS3 CL E G H | 4722 | 618230 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 | 618230 | | OMIM | 1 | | 147 | 7710 | 603846 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | NDUFS3 CL E G H | 4722 | 618230 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 | 618230 | | OMIM | 1 | | 147 | 7710 | 603846 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | NDUFS3 CL E G H | 4722 | 618230 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 | 618230 | | OMIM | 1 | | 147 | 7710 | 603846 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | NDUFS3 CL E G H | 4722 | 618230 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 | 618230 | | OMIM | 1 | | 147 | 7710 | 603846 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | NDUFS3 CL E G H | 4722 | 618230 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 | 618230 | | OMIM | 1 | | 147 | 7710 | 603846 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | NDUFS3 CL E G H | 4722 | 618230 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 | 618230 | | OMIM | 1 | | 147 | 7710 | 603846 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | NDUFS3 CL E G H | 4722 | 618230 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 | 618230 | | OMIM | 1 | | 147 | 7710 | 603846 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | NDUFS3 CL E G H | 4722 | 618230 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 | 618230 | | OMIM | 1 | | 147 | 7710 | 603846 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | NDUFS3 CL E G H | 4722 | 618230 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 | 618230 | | OMIM | 1 | | 147 | 7710 | 603846 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | NDUFS3 CL E G H | 4722 | 618230 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 | 618230 | | OMIM | 1 | | 147 | 7710 | 603846 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | NDUFS6 CL E G H | 4726 | 618232 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 | 618232 | | OMIM | 1 | | 302 | 7713 | 603848 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | NDUFS6 CL E G H | 4726 | 618232 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 | 618232 | | OMIM | 1 | | 302 | 7713 | 603848 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | NDUFS6 CL E G H | 4726 | 618232 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 | 618232 | | OMIM | 1 | | 302 | 7713 | 603848 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | NDUFS6 CL E G H | 4726 | 618232 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 | 618232 | | OMIM | 1 | | 302 | 7713 | 603848 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | NDUFS6 CL E G H | 4726 | 618232 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 | 618232 | | OMIM | 1 | | 302 | 7713 | 603848 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | NDUFS6 CL E G H | 4726 | 618232 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 | 618232 | | OMIM | 1 | | 302 | 7713 | 603848 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | NDUFS6 CL E G H | 4726 | 618232 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 | 618232 | | OMIM | 1 | | 302 | 7713 | 603848 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | NDUFS6 CL E G H | 4726 | 618232 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 | 618232 | | OMIM | 1 | | 302 | 7713 | 603848 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | NDUFS6 CL E G H | 4726 | 618232 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 | 618232 | | OMIM | 1 | | 302 | 7713 | 603848 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | NDUFS6 CL E G H | 4726 | 618232 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 | 618232 | | OMIM | 1 | | 302 | 7713 | 603848 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | NDUFS6 CL E G H | 4726 | 618232 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 | 618232 | | OMIM | 1 | | 302 | 7713 | 603848 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | NDUFS7 CL E G H | 374291 | 618224 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 | 618224 | | OMIM | 1 | | 215 | 7714 | 601825 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | NDUFS7 CL E G H | 374291 | 618224 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 | 618224 | | OMIM | 1 | | 215 | 7714 | 601825 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | NDUFS7 CL E G H | 374291 | 618224 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 | 618224 | | OMIM | 1 | | 215 | 7714 | 601825 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | NDUFS7 CL E G H | 374291 | 618224 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 | 618224 | | OMIM | 1 | | 215 | 7714 | 601825 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | NDUFS7 CL E G H | 374291 | 618224 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 | 618224 | | OMIM | 1 | | 215 | 7714 | 601825 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | NDUFS7 CL E G H | 374291 | 618224 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 | 618224 | | OMIM | 1 | | 215 | 7714 | 601825 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | NDUFS7 CL E G H | 374291 | 618224 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 | 618224 | | OMIM | 1 | | 215 | 7714 | 601825 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | NDUFS7 CL E G H | 374291 | 618224 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 | 618224 | | OMIM | 1 | | 215 | 7714 | 601825 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | NDUFS7 CL E G H | 374291 | 618224 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 | 618224 | | OMIM | 1 | | 215 | 7714 | 601825 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | NDUFS7 CL E G H | 374291 | 618224 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 | 618224 | | OMIM | 1 | | 215 | 7714 | 601825 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | NDUFS7 CL E G H | 374291 | 618224 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 | 618224 | | OMIM | 1 | | 215 | 7714 | 601825 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | NDUFV2 CL E G H | 4729 | 618229 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7 | 618229 | | OMIM | 1 | | 229 | 7717 | 600532 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | NDUFV2 CL E G H | 4729 | 618229 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7 | 618229 | | OMIM | 1 | | 229 | 7717 | 600532 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | NDUFV2 CL E G H | 4729 | 618229 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7 | 618229 | | OMIM | 1 | | 229 | 7717 | 600532 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | NDUFV2 CL E G H | 4729 | 618229 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7 | 618229 | | OMIM | 1 | | 229 | 7717 | 600532 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | NDUFV2 CL E G H | 4729 | 618229 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7 | 618229 | | OMIM | 1 | | 229 | 7717 | 600532 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | NDUFV2 CL E G H | 4729 | 618229 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7 | 618229 | | OMIM | 1 | | 229 | 7717 | 600532 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | NDUFV2 CL E G H | 4729 | 618229 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7 | 618229 | | OMIM | 1 | | 229 | 7717 | 600532 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | NDUFV2 CL E G H | 4729 | 618229 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7 | 618229 | | OMIM | 1 | | 229 | 7717 | 600532 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | NDUFV2 CL E G H | 4729 | 618229 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7 | 618229 | | OMIM | 1 | | 229 | 7717 | 600532 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | NDUFV2 CL E G H | 4729 | 618229 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7 | 618229 | | OMIM | 1 | | 229 | 7717 | 600532 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | NDUFV2 CL E G H | 4729 | 618229 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7 | 618229 | | OMIM | 1 | | 229 | 7717 | 600532 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | NECAP1 CL E G H | 25977 | 442835 | | | | ORPHA | 1 | | 221 | 24539 | 611623 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | NECAP1 CL E G H | 25977 | 442835 | | | | ORPHA | 1 | | 221 | 24539 | 611623 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | NECAP1 CL E G H | 25977 | 442835 | | | | ORPHA | 1 | | 221 | 24539 | 611623 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | NECAP1 CL E G H | 25977 | 442835 | | | | ORPHA | 1 | | 221 | 24539 | 611623 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | NECAP1 CL E G H | 25977 | 442835 | | | | ORPHA | 1 | | 221 | 24539 | 611623 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | NECAP1 CL E G H | 25977 | 442835 | | | | ORPHA | 1 | | 221 | 24539 | 611623 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | NECAP1 CL E G H | 25977 | 442835 | | | | ORPHA | 1 | | 221 | 24539 | 611623 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | NECAP1 CL E G H | 25977 | 442835 | | | | ORPHA | 1 | | 221 | 24539 | 611623 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | NECAP1 CL E G H | 25977 | 442835 | | | | ORPHA | 1 | | 221 | 24539 | 611623 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | NECAP1 CL E G H | 25977 | 442835 | | | | ORPHA | 1 | | 221 | 24539 | 611623 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | NECAP1 CL E G H | 25977 | 442835 | | | | ORPHA | 1 | | 221 | 24539 | 611623 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | NTRK2 CL E G H | 4915 | 442835 | | | | ORPHA | 1 | | 509 | 8032 | 600456 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | NTRK2 CL E G H | 4915 | 442835 | | | | ORPHA | 1 | | 509 | 8032 | 600456 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | NTRK2 CL E G H | 4915 | 442835 | | | | ORPHA | 1 | | 509 | 8032 | 600456 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | NTRK2 CL E G H | 4915 | 442835 | | | | ORPHA | 1 | | 509 | 8032 | 600456 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | NTRK2 CL E G H | 4915 | 442835 | | | | ORPHA | 1 | | 509 | 8032 | 600456 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | NTRK2 CL E G H | 4915 | 442835 | | | | ORPHA | 1 | | 509 | 8032 | 600456 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | NTRK2 CL E G H | 4915 | 442835 | | | | ORPHA | 1 | | 509 | 8032 | 600456 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | NTRK2 CL E G H | 4915 | 442835 | | | | ORPHA | 1 | | 509 | 8032 | 600456 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | NTRK2 CL E G H | 4915 | 442835 | | | | ORPHA | 1 | | 509 | 8032 | 600456 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | NTRK2 CL E G H | 4915 | 442835 | | | | ORPHA | 1 | | 509 | 8032 | 600456 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | NTRK2 CL E G H | 4915 | 442835 | | | | ORPHA | 1 | | 509 | 8032 | 600456 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | NUS1 CL E G H | 116150 | 442835 | | | | ORPHA | 1 | | 326 | 21042 | 610463 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | NUS1 CL E G H | 116150 | 442835 | | | | ORPHA | 1 | | 326 | 21042 | 610463 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | NUS1 CL E G H | 116150 | 442835 | | | | ORPHA | 1 | | 326 | 21042 | 610463 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | NUS1 CL E G H | 116150 | 442835 | | | | ORPHA | 1 | | 326 | 21042 | 610463 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | NUS1 CL E G H | 116150 | 442835 | | | | ORPHA | 1 | | 326 | 21042 | 610463 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | NUS1 CL E G H | 116150 | 442835 | | | | ORPHA | 1 | | 326 | 21042 | 610463 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | NUS1 CL E G H | 116150 | 442835 | | | | ORPHA | 1 | | 326 | 21042 | 610463 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | NUS1 CL E G H | 116150 | 442835 | | | | ORPHA | 1 | | 326 | 21042 | 610463 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | NUS1 CL E G H | 116150 | 442835 | | | | ORPHA | 1 | | 326 | 21042 | 610463 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | NUS1 CL E G H | 116150 | 442835 | | | | ORPHA | 1 | | 326 | 21042 | 610463 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | NUS1 CL E G H | 116150 | 442835 | | | | ORPHA | 1 | | 326 | 21042 | 610463 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | PNPO CL E G H | 55163 | 610090 | Pyridoxal 5'-phosphate-dependent epilepsy | 610090 | C1864723 | OMIM | 1 | | 317 | 30260 | 603287 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | PNPO CL E G H | 55163 | 610090 | Pyridoxal 5'-phosphate-dependent epilepsy | 610090 | C1864723 | OMIM | 1 | | 317 | 30260 | 603287 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | PNPO CL E G H | 55163 | 610090 | Pyridoxal 5'-phosphate-dependent epilepsy | 610090 | C1864723 | OMIM | 1 | | 317 | 30260 | 603287 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | PNPO CL E G H | 55163 | 610090 | Pyridoxal 5'-phosphate-dependent epilepsy | 610090 | C1864723 | OMIM | 1 | | 317 | 30260 | 603287 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | PNPO CL E G H | 55163 | 610090 | Pyridoxal 5'-phosphate-dependent epilepsy | 610090 | C1864723 | OMIM | 1 | | 317 | 30260 | 603287 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | PNPO CL E G H | 55163 | 610090 | Pyridoxal 5'-phosphate-dependent epilepsy | 610090 | C1864723 | OMIM | 1 | | 317 | 30260 | 603287 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | PNPO CL E G H | 55163 | 610090 | Pyridoxal 5'-phosphate-dependent epilepsy | 610090 | C1864723 | OMIM | 1 | | 317 | 30260 | 603287 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | PNPO CL E G H | 55163 | 610090 | Pyridoxal 5'-phosphate-dependent epilepsy | 610090 | C1864723 | OMIM | 1 | | 317 | 30260 | 603287 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | PNPO CL E G H | 55163 | 610090 | Pyridoxal 5'-phosphate-dependent epilepsy | 610090 | C1864723 | OMIM | 1 | | 317 | 30260 | 603287 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | PNPO CL E G H | 55163 | 610090 | Pyridoxal 5'-phosphate-dependent epilepsy | 610090 | C1864723 | OMIM | 1 | | 317 | 30260 | 603287 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | PNPO CL E G H | 55163 | 610090 | Pyridoxal 5'-phosphate-dependent epilepsy | 610090 | C1864723 | OMIM | 1 | | 317 | 30260 | 603287 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | PPP3CA CL E G H | 5530 | 442835 | | | | ORPHA | 1 | | 351 | 9314 | 114105 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | PPP3CA CL E G H | 5530 | 442835 | | | | ORPHA | 1 | | 351 | 9314 | 114105 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | PPP3CA CL E G H | 5530 | 442835 | | | | ORPHA | 1 | | 351 | 9314 | 114105 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | PPP3CA CL E G H | 5530 | 442835 | | | | ORPHA | 1 | | 351 | 9314 | 114105 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | PPP3CA CL E G H | 5530 | 442835 | | | | ORPHA | 1 | | 351 | 9314 | 114105 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | PPP3CA CL E G H | 5530 | 442835 | | | | ORPHA | 1 | | 351 | 9314 | 114105 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | PPP3CA CL E G H | 5530 | 442835 | | | | ORPHA | 1 | | 351 | 9314 | 114105 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | PPP3CA CL E G H | 5530 | 442835 | | | | ORPHA | 1 | | 351 | 9314 | 114105 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | PPP3CA CL E G H | 5530 | 442835 | | | | ORPHA | 1 | | 351 | 9314 | 114105 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | PPP3CA CL E G H | 5530 | 442835 | | | | ORPHA | 1 | | 351 | 9314 | 114105 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | PPP3CA CL E G H | 5530 | 442835 | | | | ORPHA | 1 | | 351 | 9314 | 114105 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | PRNP CL E G H | 5621 | 606688 | Spongiform encephalopathy with neuropsychiatric features | 606688 | C1847650 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | PRNP CL E G H | 5621 | 606688 | Spongiform encephalopathy with neuropsychiatric features | 606688 | C1847650 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | PRNP CL E G H | 5621 | 606688 | Spongiform encephalopathy with neuropsychiatric features | 606688 | C1847650 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | PRNP CL E G H | 5621 | 606688 | Spongiform encephalopathy with neuropsychiatric features | 606688 | C1847650 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | PRNP CL E G H | 5621 | 606688 | Spongiform encephalopathy with neuropsychiatric features | 606688 | C1847650 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | PRNP CL E G H | 5621 | 606688 | Spongiform encephalopathy with neuropsychiatric features | 606688 | C1847650 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | PRNP CL E G H | 5621 | 606688 | Spongiform encephalopathy with neuropsychiatric features | 606688 | C1847650 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | PRNP CL E G H | 5621 | 606688 | Spongiform encephalopathy with neuropsychiatric features | 606688 | C1847650 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | PRNP CL E G H | 5621 | 606688 | Spongiform encephalopathy with neuropsychiatric features | 606688 | C1847650 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | PRNP CL E G H | 5621 | 606688 | Spongiform encephalopathy with neuropsychiatric features | 606688 | C1847650 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | PRNP CL E G H | 5621 | 606688 | Spongiform encephalopathy with neuropsychiatric features | 606688 | C1847650 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | RNASEH2B CL E G H | 79621 | 610181 | Aicardi Goutieres syndrome 2 | 610181 | C3489724 | OMIM | 1 | | 426 | 25671 | 610326 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | RNASEH2B CL E G H | 79621 | 610181 | Aicardi Goutieres syndrome 2 | 610181 | C3489724 | OMIM | 1 | | 426 | 25671 | 610326 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | RNASEH2B CL E G H | 79621 | 610181 | Aicardi Goutieres syndrome 2 | 610181 | C3489724 | OMIM | 1 | | 426 | 25671 | 610326 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | RNASEH2B CL E G H | 79621 | 610181 | Aicardi Goutieres syndrome 2 | 610181 | C3489724 | OMIM | 1 | | 426 | 25671 | 610326 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | RNASEH2B CL E G H | 79621 | 610181 | Aicardi Goutieres syndrome 2 | 610181 | C3489724 | OMIM | 1 | | 426 | 25671 | 610326 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | RNASEH2B CL E G H | 79621 | 610181 | Aicardi Goutieres syndrome 2 | 610181 | C3489724 | OMIM | 1 | | 426 | 25671 | 610326 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | RNASEH2B CL E G H | 79621 | 610181 | Aicardi Goutieres syndrome 2 | 610181 | C3489724 | OMIM | 1 | | 426 | 25671 | 610326 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | RNASEH2B CL E G H | 79621 | 610181 | Aicardi Goutieres syndrome 2 | 610181 | C3489724 | OMIM | 1 | | 426 | 25671 | 610326 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | RNASEH2B CL E G H | 79621 | 610181 | Aicardi Goutieres syndrome 2 | 610181 | C3489724 | OMIM | 1 | | 426 | 25671 | 610326 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | RNASEH2B CL E G H | 79621 | 610181 | Aicardi Goutieres syndrome 2 | 610181 | C3489724 | OMIM | 1 | | 426 | 25671 | 610326 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | RNASEH2B CL E G H | 79621 | 610181 | Aicardi Goutieres syndrome 2 | 610181 | C3489724 | OMIM | 1 | | 426 | 25671 | 610326 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | RNASEH2C CL E G H | 84153 | 610329 | Aicardi Goutieres syndrome 3 | 610329 | C1835916 | OMIM | 1 | | 307 | 24116 | 610330 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | RNASEH2C CL E G H | 84153 | 610329 | Aicardi Goutieres syndrome 3 | 610329 | C1835916 | OMIM | 1 | | 307 | 24116 | 610330 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | RNASEH2C CL E G H | 84153 | 610329 | Aicardi Goutieres syndrome 3 | 610329 | C1835916 | OMIM | 1 | | 307 | 24116 | 610330 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | RNASEH2C CL E G H | 84153 | 610329 | Aicardi Goutieres syndrome 3 | 610329 | C1835916 | OMIM | 1 | | 307 | 24116 | 610330 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | RNASEH2C CL E G H | 84153 | 610329 | Aicardi Goutieres syndrome 3 | 610329 | C1835916 | OMIM | 1 | | 307 | 24116 | 610330 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | RNASEH2C CL E G H | 84153 | 610329 | Aicardi Goutieres syndrome 3 | 610329 | C1835916 | OMIM | 1 | | 307 | 24116 | 610330 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | RNASEH2C CL E G H | 84153 | 610329 | Aicardi Goutieres syndrome 3 | 610329 | C1835916 | OMIM | 1 | | 307 | 24116 | 610330 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | RNASEH2C CL E G H | 84153 | 610329 | Aicardi Goutieres syndrome 3 | 610329 | C1835916 | OMIM | 1 | | 307 | 24116 | 610330 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | RNASEH2C CL E G H | 84153 | 610329 | Aicardi Goutieres syndrome 3 | 610329 | C1835916 | OMIM | 1 | | 307 | 24116 | 610330 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | RNASEH2C CL E G H | 84153 | 610329 | Aicardi Goutieres syndrome 3 | 610329 | C1835916 | OMIM | 1 | | 307 | 24116 | 610330 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | RNASEH2C CL E G H | 84153 | 610329 | Aicardi Goutieres syndrome 3 | 610329 | C1835916 | OMIM | 1 | | 307 | 24116 | 610330 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | SCN1A CL E G H | 6323 | 2382 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | SCN1A CL E G H | 6323 | 2382 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | SCN1A CL E G H | 6323 | 2382 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | SCN1A CL E G H | 6323 | 2382 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | SCN1A CL E G H | 6323 | 2382 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | SCN1A CL E G H | 6323 | 2382 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | SCN1A CL E G H | 6323 | 2382 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | SCN1A CL E G H | 6323 | 2382 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | SCN1A CL E G H | 6323 | 2382 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | SCN1A CL E G H | 6323 | 2382 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | SCN1A CL E G H | 6323 | 2382 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | SCN3A CL E G H | 6328 | 442835 | | | | ORPHA | 1 | | 1420 | 10590 | 182391 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | SCN3A CL E G H | 6328 | 442835 | | | | ORPHA | 1 | | 1420 | 10590 | 182391 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | SCN3A CL E G H | 6328 | 442835 | | | | ORPHA | 1 | | 1420 | 10590 | 182391 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | SCN3A CL E G H | 6328 | 442835 | | | | ORPHA | 1 | | 1420 | 10590 | 182391 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | SCN3A CL E G H | 6328 | 442835 | | | | ORPHA | 1 | | 1420 | 10590 | 182391 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | SCN3A CL E G H | 6328 | 442835 | | | | ORPHA | 1 | | 1420 | 10590 | 182391 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | SCN3A CL E G H | 6328 | 442835 | | | | ORPHA | 1 | | 1420 | 10590 | 182391 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | SCN3A CL E G H | 6328 | 442835 | | | | ORPHA | 1 | | 1420 | 10590 | 182391 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | SCN3A CL E G H | 6328 | 442835 | | | | ORPHA | 1 | | 1420 | 10590 | 182391 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | SCN3A CL E G H | 6328 | 442835 | | | | ORPHA | 1 | | 1420 | 10590 | 182391 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | SCN3A CL E G H | 6328 | 442835 | | | | ORPHA | 1 | | 1420 | 10590 | 182391 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | SCN8A CL E G H | 6334 | 442835 | | | | ORPHA | 1 | | 1799 | 10596 | 600702 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | SCN8A CL E G H | 6334 | 442835 | | | | ORPHA | 1 | | 1799 | 10596 | 600702 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | SCN8A CL E G H | 6334 | 442835 | | | | ORPHA | 1 | | 1799 | 10596 | 600702 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | SCN8A CL E G H | 6334 | 442835 | | | | ORPHA | 1 | | 1799 | 10596 | 600702 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | SCN8A CL E G H | 6334 | 442835 | | | | ORPHA | 1 | | 1799 | 10596 | 600702 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | SCN8A CL E G H | 6334 | 442835 | | | | ORPHA | 1 | | 1799 | 10596 | 600702 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | SCN8A CL E G H | 6334 | 442835 | | | | ORPHA | 1 | | 1799 | 10596 | 600702 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | SCN8A CL E G H | 6334 | 442835 | | | | ORPHA | 1 | | 1799 | 10596 | 600702 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | SCN8A CL E G H | 6334 | 442835 | | | | ORPHA | 1 | | 1799 | 10596 | 600702 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | SCN8A CL E G H | 6334 | 442835 | | | | ORPHA | 1 | | 1799 | 10596 | 600702 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | SCN8A CL E G H | 6334 | 442835 | | | | ORPHA | 1 | | 1799 | 10596 | 600702 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | SERAC1 CL E G H | 84947 | 614739 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 614739 | C3553597 | OMIM | 1 | | 400 | 21061 | 614725 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | SERAC1 CL E G H | 84947 | 614739 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 614739 | C3553597 | OMIM | 1 | | 400 | 21061 | 614725 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | SERAC1 CL E G H | 84947 | 614739 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 614739 | C3553597 | OMIM | 1 | | 400 | 21061 | 614725 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | SERAC1 CL E G H | 84947 | 614739 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 614739 | C3553597 | OMIM | 1 | | 400 | 21061 | 614725 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | SERAC1 CL E G H | 84947 | 614739 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 614739 | C3553597 | OMIM | 1 | | 400 | 21061 | 614725 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | SERAC1 CL E G H | 84947 | 614739 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 614739 | C3553597 | OMIM | 1 | | 400 | 21061 | 614725 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | SERAC1 CL E G H | 84947 | 614739 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 614739 | C3553597 | OMIM | 1 | | 400 | 21061 | 614725 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | SERAC1 CL E G H | 84947 | 614739 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 614739 | C3553597 | OMIM | 1 | | 400 | 21061 | 614725 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | SERAC1 CL E G H | 84947 | 614739 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 614739 | C3553597 | OMIM | 1 | | 400 | 21061 | 614725 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | SERAC1 CL E G H | 84947 | 614739 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 614739 | C3553597 | OMIM | 1 | | 400 | 21061 | 614725 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | SERAC1 CL E G H | 84947 | 614739 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 614739 | C3553597 | OMIM | 1 | | 400 | 21061 | 614725 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | SERPINI1 CL E G H | 5274 | 604218 | Encephalopathy, familial, with neuroserpin inclusion bodies | 604218 | C1858680 | OMIM | 1 | | 310 | 8943 | 602445 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | SERPINI1 CL E G H | 5274 | 604218 | Encephalopathy, familial, with neuroserpin inclusion bodies | 604218 | C1858680 | OMIM | 1 | | 310 | 8943 | 602445 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | SERPINI1 CL E G H | 5274 | 604218 | Encephalopathy, familial, with neuroserpin inclusion bodies | 604218 | C1858680 | OMIM | 1 | | 310 | 8943 | 602445 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | SERPINI1 CL E G H | 5274 | 604218 | Encephalopathy, familial, with neuroserpin inclusion bodies | 604218 | C1858680 | OMIM | 1 | | 310 | 8943 | 602445 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | SERPINI1 CL E G H | 5274 | 604218 | Encephalopathy, familial, with neuroserpin inclusion bodies | 604218 | C1858680 | OMIM | 1 | | 310 | 8943 | 602445 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | SERPINI1 CL E G H | 5274 | 604218 | Encephalopathy, familial, with neuroserpin inclusion bodies | 604218 | C1858680 | OMIM | 1 | | 310 | 8943 | 602445 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | SERPINI1 CL E G H | 5274 | 604218 | Encephalopathy, familial, with neuroserpin inclusion bodies | 604218 | C1858680 | OMIM | 1 | | 310 | 8943 | 602445 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | SERPINI1 CL E G H | 5274 | 604218 | Encephalopathy, familial, with neuroserpin inclusion bodies | 604218 | C1858680 | OMIM | 1 | | 310 | 8943 | 602445 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | SERPINI1 CL E G H | 5274 | 604218 | Encephalopathy, familial, with neuroserpin inclusion bodies | 604218 | C1858680 | OMIM | 1 | | 310 | 8943 | 602445 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | SERPINI1 CL E G H | 5274 | 604218 | Encephalopathy, familial, with neuroserpin inclusion bodies | 604218 | C1858680 | OMIM | 1 | | 310 | 8943 | 602445 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | SERPINI1 CL E G H | 5274 | 604218 | Encephalopathy, familial, with neuroserpin inclusion bodies | 604218 | C1858680 | OMIM | 1 | | 310 | 8943 | 602445 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | SIK1 CL E G H | 150094 | 616341 | Epileptic encephalopathy, early infantile, 30 | 616341 | C4225360 | OMIM | 1 | | 909 | 11142 | 605705 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | SIK1 CL E G H | 150094 | 616341 | Epileptic encephalopathy, early infantile, 30 | 616341 | C4225360 | OMIM | 1 | | 909 | 11142 | 605705 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | SIK1 CL E G H | 150094 | 616341 | Epileptic encephalopathy, early infantile, 30 | 616341 | C4225360 | OMIM | 1 | | 909 | 11142 | 605705 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | SIK1 CL E G H | 150094 | 616341 | Epileptic encephalopathy, early infantile, 30 | 616341 | C4225360 | OMIM | 1 | | 909 | 11142 | 605705 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | SIK1 CL E G H | 150094 | 616341 | Epileptic encephalopathy, early infantile, 30 | 616341 | C4225360 | OMIM | 1 | | 909 | 11142 | 605705 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | SIK1 CL E G H | 150094 | 616341 | Epileptic encephalopathy, early infantile, 30 | 616341 | C4225360 | OMIM | 1 | | 909 | 11142 | 605705 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | SIK1 CL E G H | 150094 | 616341 | Epileptic encephalopathy, early infantile, 30 | 616341 | C4225360 | OMIM | 1 | | 909 | 11142 | 605705 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | SIK1 CL E G H | 150094 | 616341 | Epileptic encephalopathy, early infantile, 30 | 616341 | C4225360 | OMIM | 1 | | 909 | 11142 | 605705 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | SIK1 CL E G H | 150094 | 616341 | Epileptic encephalopathy, early infantile, 30 | 616341 | C4225360 | OMIM | 1 | | 909 | 11142 | 605705 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | SIK1 CL E G H | 150094 | 616341 | Epileptic encephalopathy, early infantile, 30 | 616341 | C4225360 | OMIM | 1 | | 909 | 11142 | 605705 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | SIK1 CL E G H | 150094 | 616341 | Epileptic encephalopathy, early infantile, 30 | 616341 | C4225360 | OMIM | 1 | | 909 | 11142 | 605705 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | SLC13A5 CL E G H | 284111 | 442835 | | | | ORPHA | 1 | | 685 | 23089 | 608305 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | SLC13A5 CL E G H | 284111 | 442835 | | | | ORPHA | 1 | | 685 | 23089 | 608305 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | SLC13A5 CL E G H | 284111 | 442835 | | | | ORPHA | 1 | | 685 | 23089 | 608305 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | SLC13A5 CL E G H | 284111 | 442835 | | | | ORPHA | 1 | | 685 | 23089 | 608305 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | SLC13A5 CL E G H | 284111 | 442835 | | | | ORPHA | 1 | | 685 | 23089 | 608305 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | SLC13A5 CL E G H | 284111 | 442835 | | | | ORPHA | 1 | | 685 | 23089 | 608305 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | SLC13A5 CL E G H | 284111 | 442835 | | | | ORPHA | 1 | | 685 | 23089 | 608305 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | SLC13A5 CL E G H | 284111 | 442835 | | | | ORPHA | 1 | | 685 | 23089 | 608305 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | SLC13A5 CL E G H | 284111 | 442835 | | | | ORPHA | 1 | | 685 | 23089 | 608305 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | SLC13A5 CL E G H | 284111 | 442835 | | | | ORPHA | 1 | | 685 | 23089 | 608305 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | SLC13A5 CL E G H | 284111 | 442835 | | | | ORPHA | 1 | | 685 | 23089 | 608305 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | SLC1A2 CL E G H | 6506 | 442835 | | | | ORPHA | 1 | | 359 | 10940 | 600300 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | SLC1A2 CL E G H | 6506 | 442835 | | | | ORPHA | 1 | | 359 | 10940 | 600300 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | SLC1A2 CL E G H | 6506 | 442835 | | | | ORPHA | 1 | | 359 | 10940 | 600300 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | SLC1A2 CL E G H | 6506 | 442835 | | | | ORPHA | 1 | | 359 | 10940 | 600300 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | SLC1A2 CL E G H | 6506 | 442835 | | | | ORPHA | 1 | | 359 | 10940 | 600300 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | SLC1A2 CL E G H | 6506 | 442835 | | | | ORPHA | 1 | | 359 | 10940 | 600300 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | SLC1A2 CL E G H | 6506 | 442835 | | | | ORPHA | 1 | | 359 | 10940 | 600300 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | SLC1A2 CL E G H | 6506 | 442835 | | | | ORPHA | 1 | | 359 | 10940 | 600300 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | SLC1A2 CL E G H | 6506 | 442835 | | | | ORPHA | 1 | | 359 | 10940 | 600300 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | SLC1A2 CL E G H | 6506 | 442835 | | | | ORPHA | 1 | | 359 | 10940 | 600300 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | SLC1A2 CL E G H | 6506 | 442835 | | | | ORPHA | 1 | | 359 | 10940 | 600300 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | SLC22A5 CL E G H | 6584 | 212140 | Renal carnitine transport defect | 212140 | C0342788 | OMIM | 1 | | 1027 | 10969 | 603377 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | SLC22A5 CL E G H | 6584 | 212140 | Renal carnitine transport defect | 212140 | C0342788 | OMIM | 1 | | 1027 | 10969 | 603377 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | SLC22A5 CL E G H | 6584 | 212140 | Renal carnitine transport defect | 212140 | C0342788 | OMIM | 1 | | 1027 | 10969 | 603377 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | SLC22A5 CL E G H | 6584 | 212140 | Renal carnitine transport defect | 212140 | C0342788 | OMIM | 1 | | 1027 | 10969 | 603377 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | SLC22A5 CL E G H | 6584 | 212140 | Renal carnitine transport defect | 212140 | C0342788 | OMIM | 1 | | 1027 | 10969 | 603377 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | SLC22A5 CL E G H | 6584 | 212140 | Renal carnitine transport defect | 212140 | C0342788 | OMIM | 1 | | 1027 | 10969 | 603377 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | SLC22A5 CL E G H | 6584 | 212140 | Renal carnitine transport defect | 212140 | C0342788 | OMIM | 1 | | 1027 | 10969 | 603377 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | SLC22A5 CL E G H | 6584 | 212140 | Renal carnitine transport defect | 212140 | C0342788 | OMIM | 1 | | 1027 | 10969 | 603377 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | SLC22A5 CL E G H | 6584 | 212140 | Renal carnitine transport defect | 212140 | C0342788 | OMIM | 1 | | 1027 | 10969 | 603377 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | SLC22A5 CL E G H | 6584 | 212140 | Renal carnitine transport defect | 212140 | C0342788 | OMIM | 1 | | 1027 | 10969 | 603377 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | SLC22A5 CL E G H | 6584 | 212140 | Renal carnitine transport defect | 212140 | C0342788 | OMIM | 1 | | 1027 | 10969 | 603377 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | SLC25A1 CL E G H | 6576 | 615182 | Combined d-2- and l-2-hydroxyglutaric aciduria | 615182 | C2746066 | OMIM | 1 | | 568 | 10979 | 190315 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | SLC25A1 CL E G H | 6576 | 615182 | Combined d-2- and l-2-hydroxyglutaric aciduria | 615182 | C2746066 | OMIM | 1 | | 568 | 10979 | 190315 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | SLC25A1 CL E G H | 6576 | 615182 | Combined d-2- and l-2-hydroxyglutaric aciduria | 615182 | C2746066 | OMIM | 1 | | 568 | 10979 | 190315 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | SLC25A1 CL E G H | 6576 | 615182 | Combined d-2- and l-2-hydroxyglutaric aciduria | 615182 | C2746066 | OMIM | 1 | | 568 | 10979 | 190315 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | SLC25A1 CL E G H | 6576 | 615182 | Combined d-2- and l-2-hydroxyglutaric aciduria | 615182 | C2746066 | OMIM | 1 | | 568 | 10979 | 190315 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | SLC25A1 CL E G H | 6576 | 615182 | Combined d-2- and l-2-hydroxyglutaric aciduria | 615182 | C2746066 | OMIM | 1 | | 568 | 10979 | 190315 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | SLC25A1 CL E G H | 6576 | 615182 | Combined d-2- and l-2-hydroxyglutaric aciduria | 615182 | C2746066 | OMIM | 1 | | 568 | 10979 | 190315 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | SLC25A1 CL E G H | 6576 | 615182 | Combined d-2- and l-2-hydroxyglutaric aciduria | 615182 | C2746066 | OMIM | 1 | | 568 | 10979 | 190315 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | SLC25A1 CL E G H | 6576 | 615182 | Combined d-2- and l-2-hydroxyglutaric aciduria | 615182 | C2746066 | OMIM | 1 | | 568 | 10979 | 190315 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | SLC25A1 CL E G H | 6576 | 615182 | Combined d-2- and l-2-hydroxyglutaric aciduria | 615182 | C2746066 | OMIM | 1 | | 568 | 10979 | 190315 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | SLC25A1 CL E G H | 6576 | 615182 | Combined d-2- and l-2-hydroxyglutaric aciduria | 615182 | C2746066 | OMIM | 1 | | 568 | 10979 | 190315 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | SLC25A20 CL E G H | 788 | 159 | | | | ORPHA | 1 | | 197 | 1421 | 613698 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | SLC25A20 CL E G H | 788 | 159 | | | | ORPHA | 1 | | 197 | 1421 | 613698 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | SLC25A20 CL E G H | 788 | 159 | | | | ORPHA | 1 | | 197 | 1421 | 613698 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | SLC25A20 CL E G H | 788 | 159 | | | | ORPHA | 1 | | 197 | 1421 | 613698 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | SLC25A20 CL E G H | 788 | 159 | | | | ORPHA | 1 | | 197 | 1421 | 613698 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | SLC25A20 CL E G H | 788 | 159 | | | | ORPHA | 1 | | 197 | 1421 | 613698 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | SLC25A20 CL E G H | 788 | 159 | | | | ORPHA | 1 | | 197 | 1421 | 613698 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | SLC25A20 CL E G H | 788 | 159 | | | | ORPHA | 1 | | 197 | 1421 | 613698 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | SLC25A20 CL E G H | 788 | 159 | | | | ORPHA | 1 | | 197 | 1421 | 613698 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | SLC25A20 CL E G H | 788 | 159 | | | | ORPHA | 1 | | 197 | 1421 | 613698 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | SLC25A20 CL E G H | 788 | 159 | | | | ORPHA | 1 | | 197 | 1421 | 613698 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | SLC2A1 CL E G H | 6513 | 71277 | | | | ORPHA | 1 | | 965 | 11005 | 138140 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | SLC2A1 CL E G H | 6513 | 71277 | | | | ORPHA | 1 | | 965 | 11005 | 138140 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | SLC2A1 CL E G H | 6513 | 71277 | | | | ORPHA | 1 | | 965 | 11005 | 138140 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | SLC2A1 CL E G H | 6513 | 71277 | | | | ORPHA | 1 | | 965 | 11005 | 138140 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | SLC2A1 CL E G H | 6513 | 71277 | | | | ORPHA | 1 | | 965 | 11005 | 138140 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | SLC2A1 CL E G H | 6513 | 71277 | | | | ORPHA | 1 | | 965 | 11005 | 138140 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | SLC2A1 CL E G H | 6513 | 71277 | | | | ORPHA | 1 | | 965 | 11005 | 138140 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | SLC2A1 CL E G H | 6513 | 71277 | | | | ORPHA | 1 | | 965 | 11005 | 138140 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | SLC2A1 CL E G H | 6513 | 71277 | | | | ORPHA | 1 | | 965 | 11005 | 138140 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | SLC2A1 CL E G H | 6513 | 71277 | | | | ORPHA | 1 | | 965 | 11005 | 138140 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | SLC2A1 CL E G H | 6513 | 71277 | | | | ORPHA | 1 | | 965 | 11005 | 138140 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | SLC35A1 CL E G H | 10559 | 603585 | Congenital disorder of glycosylation type 2F | 603585 | C1970344 | OMIM | 1 | | 125 | 11021 | 605634 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | SLC35A1 CL E G H | 10559 | 603585 | Congenital disorder of glycosylation type 2F | 603585 | C1970344 | OMIM | 1 | | 125 | 11021 | 605634 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | SLC35A1 CL E G H | 10559 | 603585 | Congenital disorder of glycosylation type 2F | 603585 | C1970344 | OMIM | 1 | | 125 | 11021 | 605634 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | SLC35A1 CL E G H | 10559 | 603585 | Congenital disorder of glycosylation type 2F | 603585 | C1970344 | OMIM | 1 | | 125 | 11021 | 605634 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | SLC35A1 CL E G H | 10559 | 603585 | Congenital disorder of glycosylation type 2F | 603585 | C1970344 | OMIM | 1 | | 125 | 11021 | 605634 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | SLC35A1 CL E G H | 10559 | 603585 | Congenital disorder of glycosylation type 2F | 603585 | C1970344 | OMIM | 1 | | 125 | 11021 | 605634 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | SLC35A1 CL E G H | 10559 | 603585 | Congenital disorder of glycosylation type 2F | 603585 | C1970344 | OMIM | 1 | | 125 | 11021 | 605634 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | SLC35A1 CL E G H | 10559 | 603585 | Congenital disorder of glycosylation type 2F | 603585 | C1970344 | OMIM | 1 | | 125 | 11021 | 605634 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | SLC35A1 CL E G H | 10559 | 603585 | Congenital disorder of glycosylation type 2F | 603585 | C1970344 | OMIM | 1 | | 125 | 11021 | 605634 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | SLC35A1 CL E G H | 10559 | 603585 | Congenital disorder of glycosylation type 2F | 603585 | C1970344 | OMIM | 1 | | 125 | 11021 | 605634 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | SLC35A1 CL E G H | 10559 | 603585 | Congenital disorder of glycosylation type 2F | 603585 | C1970344 | OMIM | 1 | | 125 | 11021 | 605634 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | SLC6A9 CL E G H | 6536 | 617301 | Glycine encephalopathy with normal serum glycine | 617301 | C4310943 | OMIM | 1 | | 269 | 11056 | 601019 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | SLC6A9 CL E G H | 6536 | 617301 | Glycine encephalopathy with normal serum glycine | 617301 | C4310943 | OMIM | 1 | | 269 | 11056 | 601019 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | SLC6A9 CL E G H | 6536 | 617301 | Glycine encephalopathy with normal serum glycine | 617301 | C4310943 | OMIM | 1 | | 269 | 11056 | 601019 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | SLC6A9 CL E G H | 6536 | 617301 | Glycine encephalopathy with normal serum glycine | 617301 | C4310943 | OMIM | 1 | | 269 | 11056 | 601019 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | SLC6A9 CL E G H | 6536 | 617301 | Glycine encephalopathy with normal serum glycine | 617301 | C4310943 | OMIM | 1 | | 269 | 11056 | 601019 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | SLC6A9 CL E G H | 6536 | 617301 | Glycine encephalopathy with normal serum glycine | 617301 | C4310943 | OMIM | 1 | | 269 | 11056 | 601019 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | SLC6A9 CL E G H | 6536 | 617301 | Glycine encephalopathy with normal serum glycine | 617301 | C4310943 | OMIM | 1 | | 269 | 11056 | 601019 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | SLC6A9 CL E G H | 6536 | 617301 | Glycine encephalopathy with normal serum glycine | 617301 | C4310943 | OMIM | 1 | | 269 | 11056 | 601019 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | SLC6A9 CL E G H | 6536 | 617301 | Glycine encephalopathy with normal serum glycine | 617301 | C4310943 | OMIM | 1 | | 269 | 11056 | 601019 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | SLC6A9 CL E G H | 6536 | 617301 | Glycine encephalopathy with normal serum glycine | 617301 | C4310943 | OMIM | 1 | | 269 | 11056 | 601019 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | SLC6A9 CL E G H | 6536 | 617301 | Glycine encephalopathy with normal serum glycine | 617301 | C4310943 | OMIM | 1 | | 269 | 11056 | 601019 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | STXBP1 CL E G H | 6812 | 442835 | | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | STXBP1 CL E G H | 6812 | 442835 | | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | STXBP1 CL E G H | 6812 | 442835 | | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | STXBP1 CL E G H | 6812 | 442835 | | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | STXBP1 CL E G H | 6812 | 442835 | | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | STXBP1 CL E G H | 6812 | 442835 | | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | STXBP1 CL E G H | 6812 | 442835 | | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | STXBP1 CL E G H | 6812 | 442835 | | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | STXBP1 CL E G H | 6812 | 442835 | | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | STXBP1 CL E G H | 6812 | 442835 | | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | STXBP1 CL E G H | 6812 | 442835 | | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | SUCLG1 CL E G H | 8802 | 245400 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) | 245400 | C3151476 | OMIM | 1 | | 303 | 11449 | 611224 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | SUCLG1 CL E G H | 8802 | 245400 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) | 245400 | C3151476 | OMIM | 1 | | 303 | 11449 | 611224 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | SUCLG1 CL E G H | 8802 | 245400 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) | 245400 | C3151476 | OMIM | 1 | | 303 | 11449 | 611224 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | SUCLG1 CL E G H | 8802 | 245400 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) | 245400 | C3151476 | OMIM | 1 | | 303 | 11449 | 611224 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | SUCLG1 CL E G H | 8802 | 245400 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) | 245400 | C3151476 | OMIM | 1 | | 303 | 11449 | 611224 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | SUCLG1 CL E G H | 8802 | 245400 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) | 245400 | C3151476 | OMIM | 1 | | 303 | 11449 | 611224 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | SUCLG1 CL E G H | 8802 | 245400 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) | 245400 | C3151476 | OMIM | 1 | | 303 | 11449 | 611224 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | SUCLG1 CL E G H | 8802 | 245400 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) | 245400 | C3151476 | OMIM | 1 | | 303 | 11449 | 611224 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | SUCLG1 CL E G H | 8802 | 245400 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) | 245400 | C3151476 | OMIM | 1 | | 303 | 11449 | 611224 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | SUCLG1 CL E G H | 8802 | 245400 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) | 245400 | C3151476 | OMIM | 1 | | 303 | 11449 | 611224 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | SUCLG1 CL E G H | 8802 | 245400 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) | 245400 | C3151476 | OMIM | 1 | | 303 | 11449 | 611224 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | SYNGAP1 CL E G H | 8831 | 442835 | | | | ORPHA | 1 | | 1335 | 11497 | 603384 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | SYNGAP1 CL E G H | 8831 | 442835 | | | | ORPHA | 1 | | 1335 | 11497 | 603384 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | SYNGAP1 CL E G H | 8831 | 442835 | | | | ORPHA | 1 | | 1335 | 11497 | 603384 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | SYNGAP1 CL E G H | 8831 | 442835 | | | | ORPHA | 1 | | 1335 | 11497 | 603384 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | SYNGAP1 CL E G H | 8831 | 442835 | | | | ORPHA | 1 | | 1335 | 11497 | 603384 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | SYNGAP1 CL E G H | 8831 | 442835 | | | | ORPHA | 1 | | 1335 | 11497 | 603384 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | SYNGAP1 CL E G H | 8831 | 442835 | | | | ORPHA | 1 | | 1335 | 11497 | 603384 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | SYNGAP1 CL E G H | 8831 | 442835 | | | | ORPHA | 1 | | 1335 | 11497 | 603384 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | SYNGAP1 CL E G H | 8831 | 442835 | | | | ORPHA | 1 | | 1335 | 11497 | 603384 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | SYNGAP1 CL E G H | 8831 | 442835 | | | | ORPHA | 1 | | 1335 | 11497 | 603384 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | SYNGAP1 CL E G H | 8831 | 442835 | | | | ORPHA | 1 | | 1335 | 11497 | 603384 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | SYNJ1 CL E G H | 8867 | 442835 | | | | ORPHA | 1 | | 1315 | 11503 | 604297 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | SYNJ1 CL E G H | 8867 | 442835 | | | | ORPHA | 1 | | 1315 | 11503 | 604297 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | SYNJ1 CL E G H | 8867 | 442835 | | | | ORPHA | 1 | | 1315 | 11503 | 604297 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | SYNJ1 CL E G H | 8867 | 442835 | | | | ORPHA | 1 | | 1315 | 11503 | 604297 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | SYNJ1 CL E G H | 8867 | 442835 | | | | ORPHA | 1 | | 1315 | 11503 | 604297 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | SYNJ1 CL E G H | 8867 | 442835 | | | | ORPHA | 1 | | 1315 | 11503 | 604297 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | SYNJ1 CL E G H | 8867 | 442835 | | | | ORPHA | 1 | | 1315 | 11503 | 604297 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | SYNJ1 CL E G H | 8867 | 442835 | | | | ORPHA | 1 | | 1315 | 11503 | 604297 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | SYNJ1 CL E G H | 8867 | 442835 | | | | ORPHA | 1 | | 1315 | 11503 | 604297 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | SYNJ1 CL E G H | 8867 | 442835 | | | | ORPHA | 1 | | 1315 | 11503 | 604297 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | SYNJ1 CL E G H | 8867 | 442835 | | | | ORPHA | 1 | | 1315 | 11503 | 604297 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | SZT2 CL E G H | 23334 | 442835 | | | | ORPHA | 1 | | 2862 | 29040 | 615463 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | SZT2 CL E G H | 23334 | 442835 | | | | ORPHA | 1 | | 2862 | 29040 | 615463 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | SZT2 CL E G H | 23334 | 442835 | | | | ORPHA | 1 | | 2862 | 29040 | 615463 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | SZT2 CL E G H | 23334 | 442835 | | | | ORPHA | 1 | | 2862 | 29040 | 615463 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | SZT2 CL E G H | 23334 | 442835 | | | | ORPHA | 1 | | 2862 | 29040 | 615463 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | SZT2 CL E G H | 23334 | 442835 | | | | ORPHA | 1 | | 2862 | 29040 | 615463 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | SZT2 CL E G H | 23334 | 442835 | | | | ORPHA | 1 | | 2862 | 29040 | 615463 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | SZT2 CL E G H | 23334 | 442835 | | | | ORPHA | 1 | | 2862 | 29040 | 615463 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | SZT2 CL E G H | 23334 | 442835 | | | | ORPHA | 1 | | 2862 | 29040 | 615463 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | SZT2 CL E G H | 23334 | 442835 | | | | ORPHA | 1 | | 2862 | 29040 | 615463 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | SZT2 CL E G H | 23334 | 442835 | | | | ORPHA | 1 | | 2862 | 29040 | 615463 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | TBCD CL E G H | 6904 | 617193 | Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum | 617193 | C4310671 | OMIM | 1 | | 705 | 11581 | 604649 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | TBCD CL E G H | 6904 | 617193 | Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum | 617193 | C4310671 | OMIM | 1 | | 705 | 11581 | 604649 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | TBCD CL E G H | 6904 | 617193 | Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum | 617193 | C4310671 | OMIM | 1 | | 705 | 11581 | 604649 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | TBCD CL E G H | 6904 | 617193 | Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum | 617193 | C4310671 | OMIM | 1 | | 705 | 11581 | 604649 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | TBCD CL E G H | 6904 | 617193 | Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum | 617193 | C4310671 | OMIM | 1 | | 705 | 11581 | 604649 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | TBCD CL E G H | 6904 | 617193 | Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum | 617193 | C4310671 | OMIM | 1 | | 705 | 11581 | 604649 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | TBCD CL E G H | 6904 | 617193 | Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum | 617193 | C4310671 | OMIM | 1 | | 705 | 11581 | 604649 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | TBCD CL E G H | 6904 | 617193 | Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum | 617193 | C4310671 | OMIM | 1 | | 705 | 11581 | 604649 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | TBCD CL E G H | 6904 | 617193 | Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum | 617193 | C4310671 | OMIM | 1 | | 705 | 11581 | 604649 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | TBCD CL E G H | 6904 | 617193 | Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum | 617193 | C4310671 | OMIM | 1 | | 705 | 11581 | 604649 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | TBCD CL E G H | 6904 | 617193 | Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum | 617193 | C4310671 | OMIM | 1 | | 705 | 11581 | 604649 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | TBCE CL E G H | 6905 | 617207 | Encephalopathy, progressive, with amyotrophy and optic atrophy | 617207 | C4310667 | OMIM | 1 | | 456 | 11582 | 604934 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | TBCE CL E G H | 6905 | 617207 | Encephalopathy, progressive, with amyotrophy and optic atrophy | 617207 | C4310667 | OMIM | 1 | | 456 | 11582 | 604934 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | TBCE CL E G H | 6905 | 617207 | Encephalopathy, progressive, with amyotrophy and optic atrophy | 617207 | C4310667 | OMIM | 1 | | 456 | 11582 | 604934 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | TBCE CL E G H | 6905 | 617207 | Encephalopathy, progressive, with amyotrophy and optic atrophy | 617207 | C4310667 | OMIM | 1 | | 456 | 11582 | 604934 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | TBCE CL E G H | 6905 | 617207 | Encephalopathy, progressive, with amyotrophy and optic atrophy | 617207 | C4310667 | OMIM | 1 | | 456 | 11582 | 604934 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | TBCE CL E G H | 6905 | 617207 | Encephalopathy, progressive, with amyotrophy and optic atrophy | 617207 | C4310667 | OMIM | 1 | | 456 | 11582 | 604934 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | TBCE CL E G H | 6905 | 617207 | Encephalopathy, progressive, with amyotrophy and optic atrophy | 617207 | C4310667 | OMIM | 1 | | 456 | 11582 | 604934 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | TBCE CL E G H | 6905 | 617207 | Encephalopathy, progressive, with amyotrophy and optic atrophy | 617207 | C4310667 | OMIM | 1 | | 456 | 11582 | 604934 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | TBCE CL E G H | 6905 | 617207 | Encephalopathy, progressive, with amyotrophy and optic atrophy | 617207 | C4310667 | OMIM | 1 | | 456 | 11582 | 604934 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | TBCE CL E G H | 6905 | 617207 | Encephalopathy, progressive, with amyotrophy and optic atrophy | 617207 | C4310667 | OMIM | 1 | | 456 | 11582 | 604934 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | TBCE CL E G H | 6905 | 617207 | Encephalopathy, progressive, with amyotrophy and optic atrophy | 617207 | C4310667 | OMIM | 1 | | 456 | 11582 | 604934 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | TBCK CL E G H | 93627 | 616900 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 616900 | C4225161 | OMIM | 1 | | 722 | 28261 | 616899 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | TBCK CL E G H | 93627 | 616900 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 616900 | C4225161 | OMIM | 1 | | 722 | 28261 | 616899 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | TBCK CL E G H | 93627 | 616900 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 616900 | C4225161 | OMIM | 1 | | 722 | 28261 | 616899 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | TBCK CL E G H | 93627 | 616900 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 616900 | C4225161 | OMIM | 1 | | 722 | 28261 | 616899 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | TBCK CL E G H | 93627 | 616900 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 616900 | C4225161 | OMIM | 1 | | 722 | 28261 | 616899 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | TBCK CL E G H | 93627 | 616900 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 616900 | C4225161 | OMIM | 1 | | 722 | 28261 | 616899 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | TBCK CL E G H | 93627 | 616900 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 616900 | C4225161 | OMIM | 1 | | 722 | 28261 | 616899 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | TBCK CL E G H | 93627 | 616900 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 616900 | C4225161 | OMIM | 1 | | 722 | 28261 | 616899 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | TBCK CL E G H | 93627 | 616900 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 616900 | C4225161 | OMIM | 1 | | 722 | 28261 | 616899 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | TBCK CL E G H | 93627 | 616900 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 616900 | C4225161 | OMIM | 1 | | 722 | 28261 | 616899 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | TBCK CL E G H | 93627 | 616900 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 616900 | C4225161 | OMIM | 1 | | 722 | 28261 | 616899 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | TCF4 CL E G H | 6925 | 610954 | Pitt-Hopkins syndrome | 610954 | C1970431 | OMIM | 1 | | 1069 | 11634 | 602272 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | TCF4 CL E G H | 6925 | 610954 | Pitt-Hopkins syndrome | 610954 | C1970431 | OMIM | 1 | | 1069 | 11634 | 602272 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | TCF4 CL E G H | 6925 | 610954 | Pitt-Hopkins syndrome | 610954 | C1970431 | OMIM | 1 | | 1069 | 11634 | 602272 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | TCF4 CL E G H | 6925 | 610954 | Pitt-Hopkins syndrome | 610954 | C1970431 | OMIM | 1 | | 1069 | 11634 | 602272 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | TCF4 CL E G H | 6925 | 610954 | Pitt-Hopkins syndrome | 610954 | C1970431 | OMIM | 1 | | 1069 | 11634 | 602272 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | TCF4 CL E G H | 6925 | 610954 | Pitt-Hopkins syndrome | 610954 | C1970431 | OMIM | 1 | | 1069 | 11634 | 602272 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | TCF4 CL E G H | 6925 | 610954 | Pitt-Hopkins syndrome | 610954 | C1970431 | OMIM | 1 | | 1069 | 11634 | 602272 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | TCF4 CL E G H | 6925 | 610954 | Pitt-Hopkins syndrome | 610954 | C1970431 | OMIM | 1 | | 1069 | 11634 | 602272 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | TCF4 CL E G H | 6925 | 610954 | Pitt-Hopkins syndrome | 610954 | C1970431 | OMIM | 1 | | 1069 | 11634 | 602272 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | TCF4 CL E G H | 6925 | 610954 | Pitt-Hopkins syndrome | 610954 | C1970431 | OMIM | 1 | | 1069 | 11634 | 602272 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | TCF4 CL E G H | 6925 | 610954 | Pitt-Hopkins syndrome | 610954 | C1970431 | OMIM | 1 | | 1069 | 11634 | 602272 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | TGFB1 CL E G H | 7040 | 618213 | INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY | 618213 | | OMIM | 1 | | 286 | 11766 | 190180 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | TGFB1 CL E G H | 7040 | 618213 | INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY | 618213 | | OMIM | 1 | | 286 | 11766 | 190180 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | TGFB1 CL E G H | 7040 | 618213 | INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY | 618213 | | OMIM | 1 | | 286 | 11766 | 190180 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | TGFB1 CL E G H | 7040 | 618213 | INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY | 618213 | | OMIM | 1 | | 286 | 11766 | 190180 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | TGFB1 CL E G H | 7040 | 618213 | INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY | 618213 | | OMIM | 1 | | 286 | 11766 | 190180 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | TGFB1 CL E G H | 7040 | 618213 | INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY | 618213 | | OMIM | 1 | | 286 | 11766 | 190180 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | TGFB1 CL E G H | 7040 | 618213 | INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY | 618213 | | OMIM | 1 | | 286 | 11766 | 190180 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | TGFB1 CL E G H | 7040 | 618213 | INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY | 618213 | | OMIM | 1 | | 286 | 11766 | 190180 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | TGFB1 CL E G H | 7040 | 618213 | INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY | 618213 | | OMIM | 1 | | 286 | 11766 | 190180 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | TGFB1 CL E G H | 7040 | 618213 | INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY | 618213 | | OMIM | 1 | | 286 | 11766 | 190180 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | TGFB1 CL E G H | 7040 | 618213 | INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY | 618213 | | OMIM | 1 | | 286 | 11766 | 190180 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | TMEM70 CL E G H | 54968 | 614052 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 | 614052 | C3279699 | OMIM | 1 | | 325 | 26050 | 612418 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | TMEM70 CL E G H | 54968 | 614052 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 | 614052 | C3279699 | OMIM | 1 | | 325 | 26050 | 612418 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | TMEM70 CL E G H | 54968 | 614052 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 | 614052 | C3279699 | OMIM | 1 | | 325 | 26050 | 612418 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | TMEM70 CL E G H | 54968 | 614052 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 | 614052 | C3279699 | OMIM | 1 | | 325 | 26050 | 612418 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | TMEM70 CL E G H | 54968 | 614052 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 | 614052 | C3279699 | OMIM | 1 | | 325 | 26050 | 612418 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | TMEM70 CL E G H | 54968 | 614052 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 | 614052 | C3279699 | OMIM | 1 | | 325 | 26050 | 612418 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | TMEM70 CL E G H | 54968 | 614052 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 | 614052 | C3279699 | OMIM | 1 | | 325 | 26050 | 612418 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | TMEM70 CL E G H | 54968 | 614052 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 | 614052 | C3279699 | OMIM | 1 | | 325 | 26050 | 612418 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | TMEM70 CL E G H | 54968 | 614052 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 | 614052 | C3279699 | OMIM | 1 | | 325 | 26050 | 612418 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | TMEM70 CL E G H | 54968 | 614052 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 | 614052 | C3279699 | OMIM | 1 | | 325 | 26050 | 612418 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | TMEM70 CL E G H | 54968 | 614052 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 | 614052 | C3279699 | OMIM | 1 | | 325 | 26050 | 612418 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | TRAK1 CL E G H | 22906 | 442835 | | | | ORPHA | 1 | | 208 | 29947 | 608112 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | TRAK1 CL E G H | 22906 | 442835 | | | | ORPHA | 1 | | 208 | 29947 | 608112 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | TRAK1 CL E G H | 22906 | 442835 | | | | ORPHA | 1 | | 208 | 29947 | 608112 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | TRAK1 CL E G H | 22906 | 442835 | | | | ORPHA | 1 | | 208 | 29947 | 608112 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | TRAK1 CL E G H | 22906 | 442835 | | | | ORPHA | 1 | | 208 | 29947 | 608112 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | TRAK1 CL E G H | 22906 | 442835 | | | | ORPHA | 1 | | 208 | 29947 | 608112 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | TRAK1 CL E G H | 22906 | 442835 | | | | ORPHA | 1 | | 208 | 29947 | 608112 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | TRAK1 CL E G H | 22906 | 442835 | | | | ORPHA | 1 | | 208 | 29947 | 608112 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | TRAK1 CL E G H | 22906 | 442835 | | | | ORPHA | 1 | | 208 | 29947 | 608112 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | TRAK1 CL E G H | 22906 | 442835 | | | | ORPHA | 1 | | 208 | 29947 | 608112 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | TRAK1 CL E G H | 22906 | 442835 | | | | ORPHA | 1 | | 208 | 29947 | 608112 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | TRAK1 CL E G H | 22906 | 618201 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 | 618201 | | OMIM | 1 | | 208 | 29947 | 608112 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | TRAK1 CL E G H | 22906 | 618201 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 | 618201 | | OMIM | 1 | | 208 | 29947 | 608112 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | TRAK1 CL E G H | 22906 | 618201 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 | 618201 | | OMIM | 1 | | 208 | 29947 | 608112 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | TRAK1 CL E G H | 22906 | 618201 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 | 618201 | | OMIM | 1 | | 208 | 29947 | 608112 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | TRAK1 CL E G H | 22906 | 618201 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 | 618201 | | OMIM | 1 | | 208 | 29947 | 608112 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | TRAK1 CL E G H | 22906 | 618201 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 | 618201 | | OMIM | 1 | | 208 | 29947 | 608112 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | TRAK1 CL E G H | 22906 | 618201 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 | 618201 | | OMIM | 1 | | 208 | 29947 | 608112 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | TRAK1 CL E G H | 22906 | 618201 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 | 618201 | | OMIM | 1 | | 208 | 29947 | 608112 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | TRAK1 CL E G H | 22906 | 618201 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 | 618201 | | OMIM | 1 | | 208 | 29947 | 608112 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | TRAK1 CL E G H | 22906 | 618201 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 | 618201 | | OMIM | 1 | | 208 | 29947 | 608112 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | TRAK1 CL E G H | 22906 | 618201 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 | 618201 | | OMIM | 1 | | 208 | 29947 | 608112 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | TRAPPC12 CL E G H | 51112 | 617669 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY | 617669 | C4540059 | OMIM | 1 | | 202 | 24284 | 614139 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | TRAPPC12 CL E G H | 51112 | 617669 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY | 617669 | C4540059 | OMIM | 1 | | 202 | 24284 | 614139 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | TRAPPC12 CL E G H | 51112 | 617669 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY | 617669 | C4540059 | OMIM | 1 | | 202 | 24284 | 614139 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | TRAPPC12 CL E G H | 51112 | 617669 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY | 617669 | C4540059 | OMIM | 1 | | 202 | 24284 | 614139 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | TRAPPC12 CL E G H | 51112 | 617669 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY | 617669 | C4540059 | OMIM | 1 | | 202 | 24284 | 614139 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | TRAPPC12 CL E G H | 51112 | 617669 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY | 617669 | C4540059 | OMIM | 1 | | 202 | 24284 | 614139 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | TRAPPC12 CL E G H | 51112 | 617669 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY | 617669 | C4540059 | OMIM | 1 | | 202 | 24284 | 614139 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | TRAPPC12 CL E G H | 51112 | 617669 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY | 617669 | C4540059 | OMIM | 1 | | 202 | 24284 | 614139 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | TRAPPC12 CL E G H | 51112 | 617669 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY | 617669 | C4540059 | OMIM | 1 | | 202 | 24284 | 614139 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | TRAPPC12 CL E G H | 51112 | 617669 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY | 617669 | C4540059 | OMIM | 1 | | 202 | 24284 | 614139 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | TRAPPC12 CL E G H | 51112 | 617669 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY | 617669 | C4540059 | OMIM | 1 | | 202 | 24284 | 614139 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | TRIT1 CL E G H | 54802 | 617873 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35 | 617873 | CN807948 | OMIM | 1 | | 113 | 20286 | 617840 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | TRIT1 CL E G H | 54802 | 617873 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35 | 617873 | CN807948 | OMIM | 1 | | 113 | 20286 | 617840 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | TRIT1 CL E G H | 54802 | 617873 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35 | 617873 | CN807948 | OMIM | 1 | | 113 | 20286 | 617840 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | TRIT1 CL E G H | 54802 | 617873 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35 | 617873 | CN807948 | OMIM | 1 | | 113 | 20286 | 617840 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | TRIT1 CL E G H | 54802 | 617873 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35 | 617873 | CN807948 | OMIM | 1 | | 113 | 20286 | 617840 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | TRIT1 CL E G H | 54802 | 617873 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35 | 617873 | CN807948 | OMIM | 1 | | 113 | 20286 | 617840 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | TRIT1 CL E G H | 54802 | 617873 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35 | 617873 | CN807948 | OMIM | 1 | | 113 | 20286 | 617840 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | TRIT1 CL E G H | 54802 | 617873 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35 | 617873 | CN807948 | OMIM | 1 | | 113 | 20286 | 617840 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | TRIT1 CL E G H | 54802 | 617873 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35 | 617873 | CN807948 | OMIM | 1 | | 113 | 20286 | 617840 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | TRIT1 CL E G H | 54802 | 617873 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35 | 617873 | CN807948 | OMIM | 1 | | 113 | 20286 | 617840 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | TRIT1 CL E G H | 54802 | 617873 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35 | 617873 | CN807948 | OMIM | 1 | | 113 | 20286 | 617840 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | TSFM CL E G H | 10102 | 610505 | Combined oxidative phosphorylation deficiency 3 | 610505 | C1864840 | OMIM | 1 | | 434 | 12367 | 604723 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | TSFM CL E G H | 10102 | 610505 | Combined oxidative phosphorylation deficiency 3 | 610505 | C1864840 | OMIM | 1 | | 434 | 12367 | 604723 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | TSFM CL E G H | 10102 | 610505 | Combined oxidative phosphorylation deficiency 3 | 610505 | C1864840 | OMIM | 1 | | 434 | 12367 | 604723 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | TSFM CL E G H | 10102 | 610505 | Combined oxidative phosphorylation deficiency 3 | 610505 | C1864840 | OMIM | 1 | | 434 | 12367 | 604723 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | TSFM CL E G H | 10102 | 610505 | Combined oxidative phosphorylation deficiency 3 | 610505 | C1864840 | OMIM | 1 | | 434 | 12367 | 604723 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | TSFM CL E G H | 10102 | 610505 | Combined oxidative phosphorylation deficiency 3 | 610505 | C1864840 | OMIM | 1 | | 434 | 12367 | 604723 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | TSFM CL E G H | 10102 | 610505 | Combined oxidative phosphorylation deficiency 3 | 610505 | C1864840 | OMIM | 1 | | 434 | 12367 | 604723 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | TSFM CL E G H | 10102 | 610505 | Combined oxidative phosphorylation deficiency 3 | 610505 | C1864840 | OMIM | 1 | | 434 | 12367 | 604723 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | TSFM CL E G H | 10102 | 610505 | Combined oxidative phosphorylation deficiency 3 | 610505 | C1864840 | OMIM | 1 | | 434 | 12367 | 604723 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | TSFM CL E G H | 10102 | 610505 | Combined oxidative phosphorylation deficiency 3 | 610505 | C1864840 | OMIM | 1 | | 434 | 12367 | 604723 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | TSFM CL E G H | 10102 | 610505 | Combined oxidative phosphorylation deficiency 3 | 610505 | C1864840 | OMIM | 1 | | 434 | 12367 | 604723 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | TUFM CL E G H | 7284 | 610678 | Combined oxidative phosphorylation deficiency 4 | 610678 | C1857682 | OMIM | 1 | | 323 | 12420 | 602389 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | TUFM CL E G H | 7284 | 610678 | Combined oxidative phosphorylation deficiency 4 | 610678 | C1857682 | OMIM | 1 | | 323 | 12420 | 602389 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | TUFM CL E G H | 7284 | 610678 | Combined oxidative phosphorylation deficiency 4 | 610678 | C1857682 | OMIM | 1 | | 323 | 12420 | 602389 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | TUFM CL E G H | 7284 | 610678 | Combined oxidative phosphorylation deficiency 4 | 610678 | C1857682 | OMIM | 1 | | 323 | 12420 | 602389 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | TUFM CL E G H | 7284 | 610678 | Combined oxidative phosphorylation deficiency 4 | 610678 | C1857682 | OMIM | 1 | | 323 | 12420 | 602389 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | TUFM CL E G H | 7284 | 610678 | Combined oxidative phosphorylation deficiency 4 | 610678 | C1857682 | OMIM | 1 | | 323 | 12420 | 602389 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | TUFM CL E G H | 7284 | 610678 | Combined oxidative phosphorylation deficiency 4 | 610678 | C1857682 | OMIM | 1 | | 323 | 12420 | 602389 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | TUFM CL E G H | 7284 | 610678 | Combined oxidative phosphorylation deficiency 4 | 610678 | C1857682 | OMIM | 1 | | 323 | 12420 | 602389 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | TUFM CL E G H | 7284 | 610678 | Combined oxidative phosphorylation deficiency 4 | 610678 | C1857682 | OMIM | 1 | | 323 | 12420 | 602389 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | TUFM CL E G H | 7284 | 610678 | Combined oxidative phosphorylation deficiency 4 | 610678 | C1857682 | OMIM | 1 | | 323 | 12420 | 602389 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | TUFM CL E G H | 7284 | 610678 | Combined oxidative phosphorylation deficiency 4 | 610678 | C1857682 | OMIM | 1 | | 323 | 12420 | 602389 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | TWNK CL E G H | 56652 | 271245 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | 271245 | C1849096 | OMIM | 1 | | 450 | 1160 | 606075 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | TWNK CL E G H | 56652 | 271245 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | 271245 | C1849096 | OMIM | 1 | | 450 | 1160 | 606075 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | TWNK CL E G H | 56652 | 271245 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | 271245 | C1849096 | OMIM | 1 | | 450 | 1160 | 606075 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | TWNK CL E G H | 56652 | 271245 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | 271245 | C1849096 | OMIM | 1 | | 450 | 1160 | 606075 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | TWNK CL E G H | 56652 | 271245 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | 271245 | C1849096 | OMIM | 1 | | 450 | 1160 | 606075 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | TWNK CL E G H | 56652 | 271245 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | 271245 | C1849096 | OMIM | 1 | | 450 | 1160 | 606075 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | TWNK CL E G H | 56652 | 271245 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | 271245 | C1849096 | OMIM | 1 | | 450 | 1160 | 606075 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | TWNK CL E G H | 56652 | 271245 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | 271245 | C1849096 | OMIM | 1 | | 450 | 1160 | 606075 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | TWNK CL E G H | 56652 | 271245 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | 271245 | C1849096 | OMIM | 1 | | 450 | 1160 | 606075 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | TWNK CL E G H | 56652 | 271245 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | 271245 | C1849096 | OMIM | 1 | | 450 | 1160 | 606075 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | TWNK CL E G H | 56652 | 271245 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | 271245 | C1849096 | OMIM | 1 | | 450 | 1160 | 606075 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | UBA5 CL E G H | 79876 | 442835 | | | | ORPHA | 1 | | 223 | 23230 | 610552 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | UBA5 CL E G H | 79876 | 442835 | | | | ORPHA | 1 | | 223 | 23230 | 610552 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | UBA5 CL E G H | 79876 | 442835 | | | | ORPHA | 1 | | 223 | 23230 | 610552 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | UBA5 CL E G H | 79876 | 442835 | | | | ORPHA | 1 | | 223 | 23230 | 610552 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | UBA5 CL E G H | 79876 | 442835 | | | | ORPHA | 1 | | 223 | 23230 | 610552 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | UBA5 CL E G H | 79876 | 442835 | | | | ORPHA | 1 | | 223 | 23230 | 610552 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | UBA5 CL E G H | 79876 | 442835 | | | | ORPHA | 1 | | 223 | 23230 | 610552 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | UBA5 CL E G H | 79876 | 442835 | | | | ORPHA | 1 | | 223 | 23230 | 610552 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | UBA5 CL E G H | 79876 | 442835 | | | | ORPHA | 1 | | 223 | 23230 | 610552 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | UBA5 CL E G H | 79876 | 442835 | | | | ORPHA | 1 | | 223 | 23230 | 610552 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | UBA5 CL E G H | 79876 | 442835 | | | | ORPHA | 1 | | 223 | 23230 | 610552 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | UBA5 CL E G H | 79876 | 617132 | Epileptic encephalopathy, early infantile, 44 | 617132 | C4310700 | OMIM | 1 | | 223 | 23230 | 610552 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | UBA5 CL E G H | 79876 | 617132 | Epileptic encephalopathy, early infantile, 44 | 617132 | C4310700 | OMIM | 1 | | 223 | 23230 | 610552 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | UBA5 CL E G H | 79876 | 617132 | Epileptic encephalopathy, early infantile, 44 | 617132 | C4310700 | OMIM | 1 | | 223 | 23230 | 610552 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | UBA5 CL E G H | 79876 | 617132 | Epileptic encephalopathy, early infantile, 44 | 617132 | C4310700 | OMIM | 1 | | 223 | 23230 | 610552 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | UBA5 CL E G H | 79876 | 617132 | Epileptic encephalopathy, early infantile, 44 | 617132 | C4310700 | OMIM | 1 | | 223 | 23230 | 610552 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | UBA5 CL E G H | 79876 | 617132 | Epileptic encephalopathy, early infantile, 44 | 617132 | C4310700 | OMIM | 1 | | 223 | 23230 | 610552 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | UBA5 CL E G H | 79876 | 617132 | Epileptic encephalopathy, early infantile, 44 | 617132 | C4310700 | OMIM | 1 | | 223 | 23230 | 610552 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | UBA5 CL E G H | 79876 | 617132 | Epileptic encephalopathy, early infantile, 44 | 617132 | C4310700 | OMIM | 1 | | 223 | 23230 | 610552 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | UBA5 CL E G H | 79876 | 617132 | Epileptic encephalopathy, early infantile, 44 | 617132 | C4310700 | OMIM | 1 | | 223 | 23230 | 610552 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | UBA5 CL E G H | 79876 | 617132 | Epileptic encephalopathy, early infantile, 44 | 617132 | C4310700 | OMIM | 1 | | 223 | 23230 | 610552 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | UBA5 CL E G H | 79876 | 617132 | Epileptic encephalopathy, early infantile, 44 | 617132 | C4310700 | OMIM | 1 | | 223 | 23230 | 610552 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | UGT1A1 CL E G H | 54658 | 218800 | Crigler Najjar syndrome, type 1 | 218800 | | OMIM | 1 | | 315 | 12530 | 191740 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | UGT1A1 CL E G H | 54658 | 218800 | Crigler Najjar syndrome, type 1 | 218800 | | OMIM | 1 | | 315 | 12530 | 191740 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | UGT1A1 CL E G H | 54658 | 218800 | Crigler Najjar syndrome, type 1 | 218800 | | OMIM | 1 | | 315 | 12530 | 191740 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | UGT1A1 CL E G H | 54658 | 218800 | Crigler Najjar syndrome, type 1 | 218800 | | OMIM | 1 | | 315 | 12530 | 191740 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | UGT1A1 CL E G H | 54658 | 218800 | Crigler Najjar syndrome, type 1 | 218800 | | OMIM | 1 | | 315 | 12530 | 191740 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | UGT1A1 CL E G H | 54658 | 218800 | Crigler Najjar syndrome, type 1 | 218800 | | OMIM | 1 | | 315 | 12530 | 191740 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | UGT1A1 CL E G H | 54658 | 218800 | Crigler Najjar syndrome, type 1 | 218800 | | OMIM | 1 | | 315 | 12530 | 191740 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | UGT1A1 CL E G H | 54658 | 218800 | Crigler Najjar syndrome, type 1 | 218800 | | OMIM | 1 | | 315 | 12530 | 191740 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | UGT1A1 CL E G H | 54658 | 218800 | Crigler Najjar syndrome, type 1 | 218800 | | OMIM | 1 | | 315 | 12530 | 191740 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | UGT1A1 CL E G H | 54658 | 218800 | Crigler Najjar syndrome, type 1 | 218800 | | OMIM | 1 | | 315 | 12530 | 191740 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | UGT1A1 CL E G H | 54658 | 218800 | Crigler Najjar syndrome, type 1 | 218800 | | OMIM | 1 | | 315 | 12530 | 191740 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | WWOX CL E G H | 51741 | 442835 | | | | ORPHA | 1 | | 1102 | 12799 | 605131 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | WWOX CL E G H | 51741 | 442835 | | | | ORPHA | 1 | | 1102 | 12799 | 605131 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | WWOX CL E G H | 51741 | 442835 | | | | ORPHA | 1 | | 1102 | 12799 | 605131 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | WWOX CL E G H | 51741 | 442835 | | | | ORPHA | 1 | | 1102 | 12799 | 605131 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | WWOX CL E G H | 51741 | 442835 | | | | ORPHA | 1 | | 1102 | 12799 | 605131 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | WWOX CL E G H | 51741 | 442835 | | | | ORPHA | 1 | | 1102 | 12799 | 605131 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | WWOX CL E G H | 51741 | 442835 | | | | ORPHA | 1 | | 1102 | 12799 | 605131 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | WWOX CL E G H | 51741 | 442835 | | | | ORPHA | 1 | | 1102 | 12799 | 605131 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | WWOX CL E G H | 51741 | 442835 | | | | ORPHA | 1 | | 1102 | 12799 | 605131 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | WWOX CL E G H | 51741 | 442835 | | | | ORPHA | 1 | | 1102 | 12799 | 605131 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | WWOX CL E G H | 51741 | 442835 | | | | ORPHA | 1 | | 1102 | 12799 | 605131 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | YWHAG CL E G H | 7532 | 442835 | | | | ORPHA | 1 | | 189 | 12852 | 605356 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | YWHAG CL E G H | 7532 | 442835 | | | | ORPHA | 1 | | 189 | 12852 | 605356 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | YWHAG CL E G H | 7532 | 442835 | | | | ORPHA | 1 | | 189 | 12852 | 605356 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | YWHAG CL E G H | 7532 | 442835 | | | | ORPHA | 1 | | 189 | 12852 | 605356 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | YWHAG CL E G H | 7532 | 442835 | | | | ORPHA | 1 | | 189 | 12852 | 605356 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | YWHAG CL E G H | 7532 | 442835 | | | | ORPHA | 1 | | 189 | 12852 | 605356 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | YWHAG CL E G H | 7532 | 442835 | | | | ORPHA | 1 | | 189 | 12852 | 605356 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | YWHAG CL E G H | 7532 | 442835 | | | | ORPHA | 1 | | 189 | 12852 | 605356 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | YWHAG CL E G H | 7532 | 442835 | | | | ORPHA | 1 | | 189 | 12852 | 605356 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | YWHAG CL E G H | 7532 | 442835 | | | | ORPHA | 1 | | 189 | 12852 | 605356 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | YWHAG CL E G H | 7532 | 442835 | | | | ORPHA | 1 | | 189 | 12852 | 605356 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 1 | | | 20 | 601065 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 1 | | | 20 | 601065 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 1 | | | 20 | 601065 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | AARS CL E G H | 16 | 616339 | Epileptic encephalopathy, early infantile, 29 | 616339 | C4225361 | OMIM | 1 | | | 20 | 601065 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | AARS CL E G H | 16 | 616339 | Epileptic encephalopathy, early infantile, 29 | 616339 | C4225361 | OMIM | 1 | | | 20 | 601065 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | AARS CL E G H | 16 | 616339 | Epileptic encephalopathy, early infantile, 29 | 616339 | C4225361 | OMIM | 1 | | | 20 | 601065 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | ACAD9 CL E G H | 28976 | 99901 | | | | ORPHA | 1 | | 771 | 21497 | 611103 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | ACAD9 CL E G H | 28976 | 99901 | | | | ORPHA | 1 | | 771 | 21497 | 611103 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | ACAD9 CL E G H | 28976 | 99901 | | | | ORPHA | 1 | | 771 | 21497 | 611103 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | ACAD9 CL E G H | 28976 | 611126 | Acyl-CoA dehydrogenase family, member 9, deficiency of | 611126 | C1970173 | OMIM | 1 | | 771 | 21497 | 611103 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | ACAD9 CL E G H | 28976 | 611126 | Acyl-CoA dehydrogenase family, member 9, deficiency of | 611126 | C1970173 | OMIM | 1 | | 771 | 21497 | 611103 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | ACAD9 CL E G H | 28976 | 611126 | Acyl-CoA dehydrogenase family, member 9, deficiency of | 611126 | C1970173 | OMIM | 1 | | 771 | 21497 | 611103 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | ACY1 CL E G H | 95 | 137754 | | | | ORPHA | 1 | | 153 | 177 | 104620 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | ACY1 CL E G H | 95 | 137754 | | | | ORPHA | 1 | | 153 | 177 | 104620 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | ACY1 CL E G H | 95 | 137754 | | | | ORPHA | 1 | | 153 | 177 | 104620 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | AMT CL E G H | 275 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 591 | 473 | 238310 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | AMT CL E G H | 275 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 591 | 473 | 238310 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | AMT CL E G H | 275 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 591 | 473 | 238310 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 1 | | 690 | 567 | 602166 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 1 | | 690 | 567 | 602166 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 1 | | 690 | 567 | 602166 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 1 | | 89 | 29561 | 611647 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 1 | | 89 | 29561 | 611647 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 1 | | 89 | 29561 | 611647 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | ASNS CL E G H | 440 | 615574 | Asparagine synthetase deficiency | 615574 | C3809971 | OMIM | 1 | | 586 | 753 | 108370 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | ASNS CL E G H | 440 | 615574 | Asparagine synthetase deficiency | 615574 | C3809971 | OMIM | 1 | | 586 | 753 | 108370 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | ASNS CL E G H | 440 | 615574 | Asparagine synthetase deficiency | 615574 | C3809971 | OMIM | 1 | | 586 | 753 | 108370 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | ATAD1 CL E G H | 84896 | 618011 | HYPEREKPLEXIA 4 | 618011 | CN248518 | OMIM | 1 | | 183 | 25903 | 614452 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | ATAD1 CL E G H | 84896 | 618011 | HYPEREKPLEXIA 4 | 618011 | CN248518 | OMIM | 1 | | 183 | 25903 | 614452 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | ATAD1 CL E G H | 84896 | 618011 | HYPEREKPLEXIA 4 | 618011 | CN248518 | OMIM | 1 | | 183 | 25903 | 614452 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | ATP1A3 CL E G H | 478 | 1171 | | | | ORPHA | 1 | | 993 | 801 | 182350 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | ATP1A3 CL E G H | 478 | 1171 | | | | ORPHA | 1 | | 993 | 801 | 182350 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | ATP1A3 CL E G H | 478 | 1171 | | | | ORPHA | 1 | | 993 | 801 | 182350 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | ATP5F1A CL E G H | 498 | 616045 | Combined oxidative phosphorylation deficiency 22 | 616045 | C4015062 | OMIM | 1 | | 209 | 823 | 164360 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | ATP5F1A CL E G H | 498 | 616045 | Combined oxidative phosphorylation deficiency 22 | 616045 | C4015062 | OMIM | 1 | | 209 | 823 | 164360 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | ATP5F1A CL E G H | 498 | 616045 | Combined oxidative phosphorylation deficiency 22 | 616045 | C4015062 | OMIM | 1 | | 209 | 823 | 164360 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | ATP5F1A CL E G H | 498 | 615228 | Mitochondrial complex v (atp synthase) deficiency, nuclear type 4 | 615228 | C3808899 | OMIM | 1 | | 209 | 823 | 164360 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | ATP5F1A CL E G H | 498 | 615228 | Mitochondrial complex v (atp synthase) deficiency, nuclear type 4 | 615228 | C3808899 | OMIM | 1 | | 209 | 823 | 164360 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | ATP5F1A CL E G H | 498 | 615228 | Mitochondrial complex v (atp synthase) deficiency, nuclear type 4 | 615228 | C3808899 | OMIM | 1 | | 209 | 823 | 164360 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | ATP5F1D CL E G H | 513 | 618120 | MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 | 618120 | CN253835 | OMIM | 1 | | 122 | 837 | 603150 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | ATP5F1D CL E G H | 513 | 618120 | MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 | 618120 | CN253835 | OMIM | 1 | | 122 | 837 | 603150 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | ATP5F1D CL E G H | 513 | 618120 | MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 | 618120 | CN253835 | OMIM | 1 | | 122 | 837 | 603150 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 1 | | 229 | 851 | 607027 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 1 | | 229 | 851 | 607027 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 1 | | 229 | 851 | 607027 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | BSCL2 CL E G H | 26580 | 615924 | Encephalopathy, progressive, with or without lipodystrophy | 615924 | C4014700 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | BSCL2 CL E G H | 26580 | 615924 | Encephalopathy, progressive, with or without lipodystrophy | 615924 | C4014700 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | BSCL2 CL E G H | 26580 | 615924 | Encephalopathy, progressive, with or without lipodystrophy | 615924 | C4014700 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 1 | | 3248 | 1388 | 601011 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 1 | | 3248 | 1388 | 601011 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 1 | | 3248 | 1388 | 601011 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | CHD2 CL E G H | 1106 | 2382 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | CHD2 CL E G H | 1106 | 2382 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | CHD2 CL E G H | 1106 | 2382 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | CLP1 CL E G H | 10978 | 615803 | Pontocerebellar hypoplasia, type 10 | 615803 | C4014347 | OMIM | 1 | | 97 | 16999 | 608757 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | CLP1 CL E G H | 10978 | 615803 | Pontocerebellar hypoplasia, type 10 | 615803 | C4014347 | OMIM | 1 | | 97 | 16999 | 608757 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | CLP1 CL E G H | 10978 | 615803 | Pontocerebellar hypoplasia, type 10 | 615803 | C4014347 | OMIM | 1 | | 97 | 16999 | 608757 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 1 | | 645 | 2092 | 118955 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 1 | | 645 | 2092 | 118955 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 1 | | 645 | 2092 | 118955 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 1 | | 306 | 19701 | 300724 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 1 | | 306 | 19701 | 300724 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 1 | | 306 | 19701 | 300724 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | COG8 CL E G H | 84342 | 611182 | Congenital disorder of glycosylation type 2H | 611182 | C1970021 | OMIM | 1 | | 245 | 18623 | 606979 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | COG8 CL E G H | 84342 | 611182 | Congenital disorder of glycosylation type 2H | 611182 | C1970021 | OMIM | 1 | | 245 | 18623 | 606979 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | COG8 CL E G H | 84342 | 611182 | Congenital disorder of glycosylation type 2H | 611182 | C1970021 | OMIM | 1 | | 245 | 18623 | 606979 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | COQ2 CL E G H | 27235 | 607426 | Coenzyme Q10 deficiency, primary 1 | 607426 | C1843920 | OMIM | 1 | | 346 | 25223 | 609825 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | COQ2 CL E G H | 27235 | 607426 | Coenzyme Q10 deficiency, primary 1 | 607426 | C1843920 | OMIM | 1 | | 346 | 25223 | 609825 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | COQ2 CL E G H | 27235 | 607426 | Coenzyme Q10 deficiency, primary 1 | 607426 | C1843920 | OMIM | 1 | | 346 | 25223 | 609825 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | COQ9 CL E G H | 57017 | 614654 | Coenzyme Q10 deficiency, primary, 5 | 614654 | C3553374 | OMIM | 1 | | 276 | 25302 | 612837 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | COQ9 CL E G H | 57017 | 614654 | Coenzyme Q10 deficiency, primary, 5 | 614654 | C3553374 | OMIM | 1 | | 276 | 25302 | 612837 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | COQ9 CL E G H | 57017 | 614654 | Coenzyme Q10 deficiency, primary, 5 | 614654 | C3553374 | OMIM | 1 | | 276 | 25302 | 612837 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | COX15 CL E G H | 1355 | 615119 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | 615119 | C3554534 | OMIM | 1 | | 357 | 2263 | 603646 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | COX15 CL E G H | 1355 | 615119 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | 615119 | C3554534 | OMIM | 1 | | 357 | 2263 | 603646 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | COX15 CL E G H | 1355 | 615119 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | 615119 | C3554534 | OMIM | 1 | | 357 | 2263 | 603646 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | CUX2 CL E G H | 23316 | 2382 | | | | ORPHA | 1 | | 227 | 19347 | 610648 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | CUX2 CL E G H | 23316 | 2382 | | | | ORPHA | 1 | | 227 | 19347 | 610648 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | CUX2 CL E G H | 23316 | 2382 | | | | ORPHA | 1 | | 227 | 19347 | 610648 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | CYC1 CL E G H | 1537 | 615453 | Mitochondrial complex III deficiency, nuclear type 6 | 615453 | C3809553 | OMIM | 1 | | 161 | 2579 | 123980 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | CYC1 CL E G H | 1537 | 615453 | Mitochondrial complex III deficiency, nuclear type 6 | 615453 | C3809553 | OMIM | 1 | | 161 | 2579 | 123980 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | CYC1 CL E G H | 1537 | 615453 | Mitochondrial complex III deficiency, nuclear type 6 | 615453 | C3809553 | OMIM | 1 | | 161 | 2579 | 123980 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 1 | | 668 | 13760 | 606323 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 1 | | 668 | 13760 | 606323 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 1 | | 668 | 13760 | 606323 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | DGUOK CL E G H | 1716 | 251880 | Mitochondrial DNA-depletion syndrome 3, hepatocerebral | 251880 | C3151513 | OMIM | 1 | | 239 | 2858 | 601465 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | DGUOK CL E G H | 1716 | 251880 | Mitochondrial DNA-depletion syndrome 3, hepatocerebral | 251880 | C3151513 | OMIM | 1 | | 239 | 2858 | 601465 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | DGUOK CL E G H | 1716 | 251880 | Mitochondrial DNA-depletion syndrome 3, hepatocerebral | 251880 | C3151513 | OMIM | 1 | | 239 | 2858 | 601465 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 1 | | 434 | 20603 | 608172 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 1 | | 434 | 20603 | 608172 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 1 | | 434 | 20603 | 608172 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | DLD CL E G H | 1738 | 246900 | Maple syrup urine disease, type 3 | 246900 | CN043137 | OMIM | 1 | | 520 | 2898 | 238331 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | DLD CL E G H | 1738 | 246900 | Maple syrup urine disease, type 3 | 246900 | CN043137 | OMIM | 1 | | 520 | 2898 | 238331 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | DLD CL E G H | 1738 | 246900 | Maple syrup urine disease, type 3 | 246900 | CN043137 | OMIM | 1 | | 520 | 2898 | 238331 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | DNM1 CL E G H | 1759 | 2382 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | DNM1 CL E G H | 1759 | 2382 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | DNM1 CL E G H | 1759 | 2382 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | DNM1L CL E G H | 10059 | 614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | 614388 | C3280660 | OMIM | 1 | | 591 | 2973 | 603850 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | DNM1L CL E G H | 10059 | 614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | 614388 | C3280660 | OMIM | 1 | | 591 | 2973 | 603850 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | DNM1L CL E G H | 10059 | 614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | 614388 | C3280660 | OMIM | 1 | | 591 | 2973 | 603850 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 1 | | 575 | 3192 | 602959 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 1 | | 575 | 3192 | 602959 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 1 | | 575 | 3192 | 602959 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | ETHE1 CL E G H | 23474 | 51188 | | | | ORPHA | 1 | | 338 | 23287 | 608451 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | ETHE1 CL E G H | 23474 | 51188 | | | | ORPHA | 1 | | 338 | 23287 | 608451 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | ETHE1 CL E G H | 23474 | 51188 | | | | ORPHA | 1 | | 338 | 23287 | 608451 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | ETHE1 CL E G H | 23474 | 602473 | Ethylmalonic encephalopathy | 602473 | C1865349 | OMIM | 1 | | 338 | 23287 | 608451 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | ETHE1 CL E G H | 23474 | 602473 | Ethylmalonic encephalopathy | 602473 | C1865349 | OMIM | 1 | | 338 | 23287 | 608451 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | ETHE1 CL E G H | 23474 | 602473 | Ethylmalonic encephalopathy | 602473 | C1865349 | OMIM | 1 | | 338 | 23287 | 608451 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | FADD CL E G H | 8772 | 306550 | | | | ORPHA | 1 | | 110 | 3573 | 602457 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | FADD CL E G H | 8772 | 306550 | | | | ORPHA | 1 | | 110 | 3573 | 602457 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | FADD CL E G H | 8772 | 306550 | | | | ORPHA | 1 | | 110 | 3573 | 602457 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | FADD CL E G H | 8772 | 613759 | Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations | 613759 | C3151062 | OMIM | 1 | | 110 | 3573 | 602457 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | FADD CL E G H | 8772 | 613759 | Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations | 613759 | C3151062 | OMIM | 1 | | 110 | 3573 | 602457 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | FADD CL E G H | 8772 | 613759 | Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations | 613759 | C3151062 | OMIM | 1 | | 110 | 3573 | 602457 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | FBXL4 CL E G H | 26235 | 615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | 615471 | C3809592 | OMIM | 1 | | 566 | 13601 | 605654 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | FBXL4 CL E G H | 26235 | 615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | 615471 | C3809592 | OMIM | 1 | | 566 | 13601 | 605654 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | FBXL4 CL E G H | 26235 | 615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | 615471 | C3809592 | OMIM | 1 | | 566 | 13601 | 605654 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 1 | | 259 | 3668 | 601513 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 1 | | 259 | 3668 | 601513 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 1 | | 259 | 3668 | 601513 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 1 | | 494 | 4082 | 600232 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 1 | | 494 | 4082 | 600232 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 1 | | 494 | 4082 | 600232 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | GABRB3 CL E G H | 2562 | 2382 | | | | ORPHA | 1 | | 838 | 4083 | 137192 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | GABRB3 CL E G H | 2562 | 2382 | | | | ORPHA | 1 | | 838 | 4083 | 137192 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | GABRB3 CL E G H | 2562 | 2382 | | | | ORPHA | 1 | | 838 | 4083 | 137192 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | GBA CL E G H | 2629 | 77261 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | GBA CL E G H | 2629 | 77260 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | GBA CL E G H | 2629 | 77260 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | GBA CL E G H | 2629 | 77261 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | GBA CL E G H | 2629 | 77261 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | GBA CL E G H | 2629 | 77260 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | GCDH CL E G H | 2639 | 25 | | | | ORPHA | 1 | | 720 | 4189 | 608801 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | GCDH CL E G H | 2639 | 25 | | | | ORPHA | 1 | | 720 | 4189 | 608801 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | GCDH CL E G H | 2639 | 25 | | | | ORPHA | 1 | | 720 | 4189 | 608801 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | GCSH CL E G H | 2653 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 176 | 4208 | 238330 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | GCSH CL E G H | 2653 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 176 | 4208 | 238330 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | GCSH CL E G H | 2653 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 176 | 4208 | 238330 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | GLDC CL E G H | 2731 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 2238 | 4313 | 238300 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | GLDC CL E G H | 2731 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 2238 | 4313 | 238300 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | GLDC CL E G H | 2731 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 2238 | 4313 | 238300 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | GLUL CL E G H | 2752 | 610015 | Glutamine deficiency, congenital | 610015 | C1864910 | OMIM | 1 | | 256 | 4341 | 138290 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | GLUL CL E G H | 2752 | 610015 | Glutamine deficiency, congenital | 610015 | C1864910 | OMIM | 1 | | 256 | 4341 | 138290 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | GLUL CL E G H | 2752 | 610015 | Glutamine deficiency, congenital | 610015 | C1864910 | OMIM | 1 | | 256 | 4341 | 138290 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | GLYCTK CL E G H | 132158 | 220120 | Deficiency of glycerate kinase | 220120 | C1291386 | OMIM | 1 | | 166 | 24247 | 610516 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | GLYCTK CL E G H | 132158 | 220120 | Deficiency of glycerate kinase | 220120 | C1291386 | OMIM | 1 | | 166 | 24247 | 610516 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | GLYCTK CL E G H | 132158 | 220120 | Deficiency of glycerate kinase | 220120 | C1291386 | OMIM | 1 | | 166 | 24247 | 610516 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | GPT2 CL E G H | 84706 | 616281 | Mental retardation, autosomal recessive 49 | 616281 | C4225388 | OMIM | 1 | | 109 | 18062 | 138210 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | GPT2 CL E G H | 84706 | 616281 | Mental retardation, autosomal recessive 49 | 616281 | C4225388 | OMIM | 1 | | 109 | 18062 | 138210 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | GPT2 CL E G H | 84706 | 616281 | Mental retardation, autosomal recessive 49 | 616281 | C4225388 | OMIM | 1 | | 109 | 18062 | 138210 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 1 | | 823 | 4588 | 602717 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 1 | | 823 | 4588 | 602717 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 1 | | 823 | 4588 | 602717 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 1 | | 796 | 4845 | 602780 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 1 | | 796 | 4845 | 602780 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 1 | | 796 | 4845 | 602780 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 271 | 27302 | 615316 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 271 | 27302 | 615316 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 271 | 27302 | 615316 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | ITPA CL E G H | 3704 | 616647 | Epileptic encephalopathy, early infantile, 35 | 616647 | C4225256 | OMIM | 1 | | 319 | 6176 | 147520 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | ITPA CL E G H | 3704 | 616647 | Epileptic encephalopathy, early infantile, 35 | 616647 | C4225256 | OMIM | 1 | | 319 | 6176 | 147520 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | ITPA CL E G H | 3704 | 616647 | Epileptic encephalopathy, early infantile, 35 | 616647 | C4225256 | OMIM | 1 | | 319 | 6176 | 147520 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 1 | | 401 | 6220 | 176262 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 1 | | 401 | 6220 | 176262 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 1 | | 401 | 6220 | 176262 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 1 | | 635 | 6231 | 600397 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 1 | | 635 | 6231 | 600397 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 1 | | 635 | 6231 | 600397 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | KYNU CL E G H | 8942 | 79155 | | | | ORPHA | 1 | | 81 | 6469 | 605197 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | KYNU CL E G H | 8942 | 79155 | | | | ORPHA | 1 | | 81 | 6469 | 605197 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | KYNU CL E G H | 8942 | 79155 | | | | ORPHA | 1 | | 81 | 6469 | 605197 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | LIAS CL E G H | 11019 | 614462 | Pyruvate dehydrogenase lipoic acid synthetase deficiency | 614462 | C3280887 | OMIM | 1 | | 410 | 16429 | 607031 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | LIAS CL E G H | 11019 | 614462 | Pyruvate dehydrogenase lipoic acid synthetase deficiency | 614462 | C3280887 | OMIM | 1 | | 410 | 16429 | 607031 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | LIAS CL E G H | 11019 | 614462 | Pyruvate dehydrogenase lipoic acid synthetase deficiency | 614462 | C3280887 | OMIM | 1 | | 410 | 16429 | 607031 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | LIPT2 CL E G H | 387787 | 617668 | ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES | 617668 | C4540052 | OMIM | 1 | | 113 | 37216 | 617659 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | LIPT2 CL E G H | 387787 | 617668 | ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES | 617668 | C4540052 | OMIM | 1 | | 113 | 37216 | 617659 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | LIPT2 CL E G H | 387787 | 617668 | ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES | 617668 | C4540052 | OMIM | 1 | | 113 | 37216 | 617659 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | LYRM7 CL E G H | 90624 | 615838 | Mitochondrial complex III deficiency, nuclear type 8 | 615838 | C4014440 | OMIM | 1 | | 92 | 28072 | 615831 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | LYRM7 CL E G H | 90624 | 615838 | Mitochondrial complex III deficiency, nuclear type 8 | 615838 | C4014440 | OMIM | 1 | | 92 | 28072 | 615831 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | LYRM7 CL E G H | 90624 | 615838 | Mitochondrial complex III deficiency, nuclear type 8 | 615838 | C4014440 | OMIM | 1 | | 92 | 28072 | 615831 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | MAPK10 CL E G H | 5602 | 2382 | | | | ORPHA | 1 | | 70 | 6872 | 602897 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | MAPK10 CL E G H | 5602 | 2382 | | | | ORPHA | 1 | | 70 | 6872 | 602897 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | MAPK10 CL E G H | 5602 | 2382 | | | | ORPHA | 1 | | 70 | 6872 | 602897 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | MECP2 CL E G H | 4204 | 300673 | Severe neonatal-onset encephalopathy with microcephaly | 300673 | C1968556 | OMIM | 1 | | 1925 | 6990 | 300005 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | MECP2 CL E G H | 4204 | 300673 | Severe neonatal-onset encephalopathy with microcephaly | 300673 | C1968556 | OMIM | 1 | | 1925 | 6990 | 300005 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | MECP2 CL E G H | 4204 | 300673 | Severe neonatal-onset encephalopathy with microcephaly | 300673 | C1968556 | OMIM | 1 | | 1925 | 6990 | 300005 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | MT-CO1 CL E G H | 4512 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7419 | 516030 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | MT-CO1 CL E G H | 4512 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7419 | 516030 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | MT-CO1 CL E G H | 4512 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7419 | 516030 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | MT-CO2 CL E G H | 4513 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7421 | 516040 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | MT-CO2 CL E G H | 4513 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7421 | 516040 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | MT-CO2 CL E G H | 4513 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7421 | 516040 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | MT-CO3 CL E G H | 4514 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7422 | 516050 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | MT-CO3 CL E G H | 4514 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7422 | 516050 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | MT-CO3 CL E G H | 4514 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7422 | 516050 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | MT-CYB CL E G H | 4519 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7427 | 516020 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | MT-CYB CL E G H | 4519 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7427 | 516020 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | MT-CYB CL E G H | 4519 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7427 | 516020 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | MT-ND1 CL E G H | 4535 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7455 | 516000 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | MT-ND1 CL E G H | 4535 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7455 | 516000 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | MT-ND1 CL E G H | 4535 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7455 | 516000 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | MT-ND5 CL E G H | 4540 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7461 | 516005 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | MT-ND5 CL E G H | 4540 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7461 | 516005 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | MT-ND5 CL E G H | 4540 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7461 | 516005 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | MT-ND6 CL E G H | 4541 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7462 | 516006 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | MT-ND6 CL E G H | 4541 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7462 | 516006 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | MT-ND6 CL E G H | 4541 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7462 | 516006 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | MT-TC CL E G H | 4511 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7477 | 590020 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | MT-TC CL E G H | 4511 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7477 | 590020 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | MT-TC CL E G H | 4511 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7477 | 590020 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | MT-TF CL E G H | 4558 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7481 | 590070 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | MT-TF CL E G H | 4558 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7481 | 590070 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | MT-TF CL E G H | 4558 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7481 | 590070 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | MT-TK CL E G H | 4566 | 1349 | Chromosome 9, partial monosomy 9p | | C2931695 | ORPHA | 1 | | | 7489 | 590060 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | MT-TK CL E G H | 4566 | 1349 | Chromosome 9, partial monosomy 9p | | C2931695 | ORPHA | 1 | | | 7489 | 590060 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | MT-TK CL E G H | 4566 | 1349 | Chromosome 9, partial monosomy 9p | | C2931695 | ORPHA | 1 | | | 7489 | 590060 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | MT-TK CL E G H | 4566 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7489 | 590060 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | MT-TK CL E G H | 4566 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7489 | 590060 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | MT-TK CL E G H | 4566 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7489 | 590060 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | MT-TL1 CL E G H | 4567 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7490 | 590050 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | MT-TL1 CL E G H | 4567 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7490 | 590050 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | MT-TL1 CL E G H | 4567 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7490 | 590050 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | MT-TQ CL E G H | 4572 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7495 | 590030 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | MT-TQ CL E G H | 4572 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7495 | 590030 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | MT-TQ CL E G H | 4572 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7495 | 590030 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | MT-TS1 CL E G H | 4574 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7497 | 590080 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | MT-TS1 CL E G H | 4574 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7497 | 590080 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | MT-TS1 CL E G H | 4574 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7497 | 590080 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | MT-TS2 CL E G H | 4575 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7498 | 590085 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | MT-TS2 CL E G H | 4575 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7498 | 590085 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | MT-TS2 CL E G H | 4575 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7498 | 590085 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | MT-TV CL E G H | 4577 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7500 | 590105 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | MT-TV CL E G H | 4577 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7500 | 590105 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | MT-TV CL E G H | 4577 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7500 | 590105 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | MT-TW CL E G H | 4578 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7501 | 590095 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | MT-TW CL E G H | 4578 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7501 | 590095 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | MT-TW CL E G H | 4578 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7501 | 590095 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | NADK2 CL E G H | 133686 | 616034 | 2,4-Dienoyl-CoA reductase deficiency | 616034 | C1857252 | OMIM | 1 | | 221 | 26404 | 615787 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | NADK2 CL E G H | 133686 | 616034 | 2,4-Dienoyl-CoA reductase deficiency | 616034 | C1857252 | OMIM | 1 | | 221 | 26404 | 615787 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | NADK2 CL E G H | 133686 | 616034 | 2,4-Dienoyl-CoA reductase deficiency | 616034 | C1857252 | OMIM | 1 | | 221 | 26404 | 615787 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | NAXE CL E G H | 128240 | 617186 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy | 617186 | C4310675 | OMIM | 1 | | 146 | 18453 | 608862 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | NAXE CL E G H | 128240 | 617186 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy | 617186 | C4310675 | OMIM | 1 | | 146 | 18453 | 608862 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | NAXE CL E G H | 128240 | 617186 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy | 617186 | C4310675 | OMIM | 1 | | 146 | 18453 | 608862 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | NDUFA11 CL E G H | 126328 | 618236 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 | 618236 | | OMIM | 1 | | 131 | 20371 | 612638 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | NDUFA11 CL E G H | 126328 | 618236 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 | 618236 | | OMIM | 1 | | 131 | 20371 | 612638 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | NDUFA11 CL E G H | 126328 | 618236 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 | 618236 | | OMIM | 1 | | 131 | 20371 | 612638 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | NDUFA6 CL E G H | 4700 | 618253 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 | 618253 | | OMIM | 1 | | 90 | 7690 | 602138 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | NDUFA6 CL E G H | 4700 | 618253 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 | 618253 | | OMIM | 1 | | 90 | 7690 | 602138 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | NDUFA6 CL E G H | 4700 | 618253 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 | 618253 | | OMIM | 1 | | 90 | 7690 | 602138 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | NDUFAF1 CL E G H | 51103 | 618234 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 | 618234 | | OMIM | 1 | | 154 | 18828 | 606934 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | NDUFAF1 CL E G H | 51103 | 618234 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 | 618234 | | OMIM | 1 | | 154 | 18828 | 606934 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | NDUFAF1 CL E G H | 51103 | 618234 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 | 618234 | | OMIM | 1 | | 154 | 18828 | 606934 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | NDUFAF2 CL E G H | 91942 | 618233 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 | 618233 | | OMIM | 1 | | 132 | 28086 | 609653 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | NDUFAF2 CL E G H | 91942 | 618233 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 | 618233 | | OMIM | 1 | | 132 | 28086 | 609653 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | NDUFAF2 CL E G H | 91942 | 618233 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 | 618233 | | OMIM | 1 | | 132 | 28086 | 609653 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | NDUFAF4 CL E G H | 29078 | 618237 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15 | 618237 | | OMIM | 1 | | 136 | 21034 | 611776 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | NDUFAF4 CL E G H | 29078 | 618237 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15 | 618237 | | OMIM | 1 | | 136 | 21034 | 611776 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | NDUFAF4 CL E G H | 29078 | 618237 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15 | 618237 | | OMIM | 1 | | 136 | 21034 | 611776 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | NDUFB3 CL E G H | 4709 | 618246 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 | 618246 | | OMIM | 1 | | 79 | 7698 | 603839 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | NDUFB3 CL E G H | 4709 | 618246 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 | 618246 | | OMIM | 1 | | 79 | 7698 | 603839 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | NDUFB3 CL E G H | 4709 | 618246 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 | 618246 | | OMIM | 1 | | 79 | 7698 | 603839 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | NDUFS3 CL E G H | 4722 | 618230 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 | 618230 | | OMIM | 1 | | 147 | 7710 | 603846 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | NDUFS3 CL E G H | 4722 | 618230 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 | 618230 | | OMIM | 1 | | 147 | 7710 | 603846 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | NDUFS3 CL E G H | 4722 | 618230 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 | 618230 | | OMIM | 1 | | 147 | 7710 | 603846 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | NDUFS6 CL E G H | 4726 | 618232 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 | 618232 | | OMIM | 1 | | 302 | 7713 | 603848 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | NDUFS6 CL E G H | 4726 | 618232 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 | 618232 | | OMIM | 1 | | 302 | 7713 | 603848 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | NDUFS6 CL E G H | 4726 | 618232 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 | 618232 | | OMIM | 1 | | 302 | 7713 | 603848 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | NDUFS7 CL E G H | 374291 | 618224 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 | 618224 | | OMIM | 1 | | 215 | 7714 | 601825 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | NDUFS7 CL E G H | 374291 | 618224 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 | 618224 | | OMIM | 1 | | 215 | 7714 | 601825 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | NDUFS7 CL E G H | 374291 | 618224 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 | 618224 | | OMIM | 1 | | 215 | 7714 | 601825 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | NDUFV2 CL E G H | 4729 | 618229 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7 | 618229 | | OMIM | 1 | | 229 | 7717 | 600532 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | NDUFV2 CL E G H | 4729 | 618229 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7 | 618229 | | OMIM | 1 | | 229 | 7717 | 600532 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | NDUFV2 CL E G H | 4729 | 618229 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7 | 618229 | | OMIM | 1 | | 229 | 7717 | 600532 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | NECAP1 CL E G H | 25977 | 442835 | | | | ORPHA | 1 | | 221 | 24539 | 611623 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | NECAP1 CL E G H | 25977 | 442835 | | | | ORPHA | 1 | | 221 | 24539 | 611623 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | NECAP1 CL E G H | 25977 | 442835 | | | | ORPHA | 1 | | 221 | 24539 | 611623 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | NTRK2 CL E G H | 4915 | 442835 | | | | ORPHA | 1 | | 509 | 8032 | 600456 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | NTRK2 CL E G H | 4915 | 442835 | | | | ORPHA | 1 | | 509 | 8032 | 600456 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | NTRK2 CL E G H | 4915 | 442835 | | | | ORPHA | 1 | | 509 | 8032 | 600456 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | NUS1 CL E G H | 116150 | 442835 | | | | ORPHA | 1 | | 326 | 21042 | 610463 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | NUS1 CL E G H | 116150 | 442835 | | | | ORPHA | 1 | | 326 | 21042 | 610463 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | NUS1 CL E G H | 116150 | 442835 | | | | ORPHA | 1 | | 326 | 21042 | 610463 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | PNPO CL E G H | 55163 | 610090 | Pyridoxal 5'-phosphate-dependent epilepsy | 610090 | C1864723 | OMIM | 1 | | 317 | 30260 | 603287 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | PNPO CL E G H | 55163 | 610090 | Pyridoxal 5'-phosphate-dependent epilepsy | 610090 | C1864723 | OMIM | 1 | | 317 | 30260 | 603287 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | PNPO CL E G H | 55163 | 610090 | Pyridoxal 5'-phosphate-dependent epilepsy | 610090 | C1864723 | OMIM | 1 | | 317 | 30260 | 603287 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | PPP3CA CL E G H | 5530 | 442835 | | | | ORPHA | 1 | | 351 | 9314 | 114105 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | PPP3CA CL E G H | 5530 | 442835 | | | | ORPHA | 1 | | 351 | 9314 | 114105 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | PPP3CA CL E G H | 5530 | 442835 | | | | ORPHA | 1 | | 351 | 9314 | 114105 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | PRNP CL E G H | 5621 | 606688 | Spongiform encephalopathy with neuropsychiatric features | 606688 | C1847650 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | PRNP CL E G H | 5621 | 606688 | Spongiform encephalopathy with neuropsychiatric features | 606688 | C1847650 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | PRNP CL E G H | 5621 | 606688 | Spongiform encephalopathy with neuropsychiatric features | 606688 | C1847650 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | RNASEH2B CL E G H | 79621 | 610181 | Aicardi Goutieres syndrome 2 | 610181 | C3489724 | OMIM | 1 | | 426 | 25671 | 610326 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | RNASEH2B CL E G H | 79621 | 610181 | Aicardi Goutieres syndrome 2 | 610181 | C3489724 | OMIM | 1 | | 426 | 25671 | 610326 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | RNASEH2B CL E G H | 79621 | 610181 | Aicardi Goutieres syndrome 2 | 610181 | C3489724 | OMIM | 1 | | 426 | 25671 | 610326 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | RNASEH2C CL E G H | 84153 | 610329 | Aicardi Goutieres syndrome 3 | 610329 | C1835916 | OMIM | 1 | | 307 | 24116 | 610330 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | RNASEH2C CL E G H | 84153 | 610329 | Aicardi Goutieres syndrome 3 | 610329 | C1835916 | OMIM | 1 | | 307 | 24116 | 610330 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | RNASEH2C CL E G H | 84153 | 610329 | Aicardi Goutieres syndrome 3 | 610329 | C1835916 | OMIM | 1 | | 307 | 24116 | 610330 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | SCN1A CL E G H | 6323 | 2382 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | SCN1A CL E G H | 6323 | 2382 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | SCN1A CL E G H | 6323 | 2382 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | SCN3A CL E G H | 6328 | 442835 | | | | ORPHA | 1 | | 1420 | 10590 | 182391 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | SCN3A CL E G H | 6328 | 442835 | | | | ORPHA | 1 | | 1420 | 10590 | 182391 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | SCN3A CL E G H | 6328 | 442835 | | | | ORPHA | 1 | | 1420 | 10590 | 182391 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | SCN8A CL E G H | 6334 | 442835 | | | | ORPHA | 1 | | 1799 | 10596 | 600702 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | SCN8A CL E G H | 6334 | 442835 | | | | ORPHA | 1 | | 1799 | 10596 | 600702 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | SCN8A CL E G H | 6334 | 442835 | | | | ORPHA | 1 | | 1799 | 10596 | 600702 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | SERAC1 CL E G H | 84947 | 614739 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 614739 | C3553597 | OMIM | 1 | | 400 | 21061 | 614725 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | SERAC1 CL E G H | 84947 | 614739 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 614739 | C3553597 | OMIM | 1 | | 400 | 21061 | 614725 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | SERAC1 CL E G H | 84947 | 614739 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 614739 | C3553597 | OMIM | 1 | | 400 | 21061 | 614725 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | SERPINI1 CL E G H | 5274 | 604218 | Encephalopathy, familial, with neuroserpin inclusion bodies | 604218 | C1858680 | OMIM | 1 | | 310 | 8943 | 602445 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | SERPINI1 CL E G H | 5274 | 604218 | Encephalopathy, familial, with neuroserpin inclusion bodies | 604218 | C1858680 | OMIM | 1 | | 310 | 8943 | 602445 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | SERPINI1 CL E G H | 5274 | 604218 | Encephalopathy, familial, with neuroserpin inclusion bodies | 604218 | C1858680 | OMIM | 1 | | 310 | 8943 | 602445 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | SIK1 CL E G H | 150094 | 616341 | Epileptic encephalopathy, early infantile, 30 | 616341 | C4225360 | OMIM | 1 | | 909 | 11142 | 605705 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | SIK1 CL E G H | 150094 | 616341 | Epileptic encephalopathy, early infantile, 30 | 616341 | C4225360 | OMIM | 1 | | 909 | 11142 | 605705 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | SIK1 CL E G H | 150094 | 616341 | Epileptic encephalopathy, early infantile, 30 | 616341 | C4225360 | OMIM | 1 | | 909 | 11142 | 605705 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | SLC13A5 CL E G H | 284111 | 442835 | | | | ORPHA | 1 | | 685 | 23089 | 608305 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | SLC13A5 CL E G H | 284111 | 442835 | | | | ORPHA | 1 | | 685 | 23089 | 608305 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | SLC13A5 CL E G H | 284111 | 442835 | | | | ORPHA | 1 | | 685 | 23089 | 608305 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 563 | 16266 | 606152 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | SLC1A2 CL E G H | 6506 | 442835 | | | | ORPHA | 1 | | 359 | 10940 | 600300 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | SLC1A2 CL E G H | 6506 | 442835 | | | | ORPHA | 1 | | 359 | 10940 | 600300 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | SLC1A2 CL E G H | 6506 | 442835 | | | | ORPHA | 1 | | 359 | 10940 | 600300 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | SLC22A5 CL E G H | 6584 | 212140 | Renal carnitine transport defect | 212140 | C0342788 | OMIM | 1 | | 1027 | 10969 | 603377 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | SLC22A5 CL E G H | 6584 | 212140 | Renal carnitine transport defect | 212140 | C0342788 | OMIM | 1 | | 1027 | 10969 | 603377 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | SLC22A5 CL E G H | 6584 | 212140 | Renal carnitine transport defect | 212140 | C0342788 | OMIM | 1 | | 1027 | 10969 | 603377 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | SLC25A1 CL E G H | 6576 | 615182 | Combined d-2- and l-2-hydroxyglutaric aciduria | 615182 | C2746066 | OMIM | 1 | | 568 | 10979 | 190315 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | SLC25A1 CL E G H | 6576 | 615182 | Combined d-2- and l-2-hydroxyglutaric aciduria | 615182 | C2746066 | OMIM | 1 | | 568 | 10979 | 190315 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | SLC25A1 CL E G H | 6576 | 615182 | Combined d-2- and l-2-hydroxyglutaric aciduria | 615182 | C2746066 | OMIM | 1 | | 568 | 10979 | 190315 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | SLC25A20 CL E G H | 788 | 159 | | | | ORPHA | 1 | | 197 | 1421 | 613698 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | SLC25A20 CL E G H | 788 | 159 | | | | ORPHA | 1 | | 197 | 1421 | 613698 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | SLC25A20 CL E G H | 788 | 159 | | | | ORPHA | 1 | | 197 | 1421 | 613698 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | SLC2A1 CL E G H | 6513 | 71277 | | | | ORPHA | 1 | | 965 | 11005 | 138140 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | SLC2A1 CL E G H | 6513 | 71277 | | | | ORPHA | 1 | | 965 | 11005 | 138140 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | SLC2A1 CL E G H | 6513 | 71277 | | | | ORPHA | 1 | | 965 | 11005 | 138140 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | SLC35A1 CL E G H | 10559 | 603585 | Congenital disorder of glycosylation type 2F | 603585 | C1970344 | OMIM | 1 | | 125 | 11021 | 605634 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | SLC35A1 CL E G H | 10559 | 603585 | Congenital disorder of glycosylation type 2F | 603585 | C1970344 | OMIM | 1 | | 125 | 11021 | 605634 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | SLC35A1 CL E G H | 10559 | 603585 | Congenital disorder of glycosylation type 2F | 603585 | C1970344 | OMIM | 1 | | 125 | 11021 | 605634 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | SLC6A9 CL E G H | 6536 | 617301 | Glycine encephalopathy with normal serum glycine | 617301 | C4310943 | OMIM | 1 | | 269 | 11056 | 601019 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | SLC6A9 CL E G H | 6536 | 617301 | Glycine encephalopathy with normal serum glycine | 617301 | C4310943 | OMIM | 1 | | 269 | 11056 | 601019 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | SLC6A9 CL E G H | 6536 | 617301 | Glycine encephalopathy with normal serum glycine | 617301 | C4310943 | OMIM | 1 | | 269 | 11056 | 601019 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | STXBP1 CL E G H | 6812 | 442835 | | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | STXBP1 CL E G H | 6812 | 442835 | | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | STXBP1 CL E G H | 6812 | 442835 | | | | ORPHA | 1 | | 1017 | 11444 | 602926 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | SUCLG1 CL E G H | 8802 | 245400 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) | 245400 | C3151476 | OMIM | 1 | | 303 | 11449 | 611224 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | SUCLG1 CL E G H | 8802 | 245400 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) | 245400 | C3151476 | OMIM | 1 | | 303 | 11449 | 611224 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | SUCLG1 CL E G H | 8802 | 245400 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) | 245400 | C3151476 | OMIM | 1 | | 303 | 11449 | 611224 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | SYNGAP1 CL E G H | 8831 | 442835 | | | | ORPHA | 1 | | 1335 | 11497 | 603384 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | SYNGAP1 CL E G H | 8831 | 442835 | | | | ORPHA | 1 | | 1335 | 11497 | 603384 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | SYNGAP1 CL E G H | 8831 | 442835 | | | | ORPHA | 1 | | 1335 | 11497 | 603384 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | SYNJ1 CL E G H | 8867 | 442835 | | | | ORPHA | 1 | | 1315 | 11503 | 604297 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | SYNJ1 CL E G H | 8867 | 442835 | | | | ORPHA | 1 | | 1315 | 11503 | 604297 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | SYNJ1 CL E G H | 8867 | 442835 | | | | ORPHA | 1 | | 1315 | 11503 | 604297 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | SZT2 CL E G H | 23334 | 442835 | | | | ORPHA | 1 | | 2862 | 29040 | 615463 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | SZT2 CL E G H | 23334 | 442835 | | | | ORPHA | 1 | | 2862 | 29040 | 615463 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | SZT2 CL E G H | 23334 | 442835 | | | | ORPHA | 1 | | 2862 | 29040 | 615463 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | TBCD CL E G H | 6904 | 617193 | Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum | 617193 | C4310671 | OMIM | 1 | | 705 | 11581 | 604649 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | TBCD CL E G H | 6904 | 617193 | Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum | 617193 | C4310671 | OMIM | 1 | | 705 | 11581 | 604649 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | TBCD CL E G H | 6904 | 617193 | Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum | 617193 | C4310671 | OMIM | 1 | | 705 | 11581 | 604649 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | TBCE CL E G H | 6905 | 617207 | Encephalopathy, progressive, with amyotrophy and optic atrophy | 617207 | C4310667 | OMIM | 1 | | 456 | 11582 | 604934 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | TBCE CL E G H | 6905 | 617207 | Encephalopathy, progressive, with amyotrophy and optic atrophy | 617207 | C4310667 | OMIM | 1 | | 456 | 11582 | 604934 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | TBCE CL E G H | 6905 | 617207 | Encephalopathy, progressive, with amyotrophy and optic atrophy | 617207 | C4310667 | OMIM | 1 | | 456 | 11582 | 604934 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | TBCK CL E G H | 93627 | 616900 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 616900 | C4225161 | OMIM | 1 | | 722 | 28261 | 616899 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | TBCK CL E G H | 93627 | 616900 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 616900 | C4225161 | OMIM | 1 | | 722 | 28261 | 616899 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | TBCK CL E G H | 93627 | 616900 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 616900 | C4225161 | OMIM | 1 | | 722 | 28261 | 616899 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | TCF4 CL E G H | 6925 | 610954 | Pitt-Hopkins syndrome | 610954 | C1970431 | OMIM | 1 | | 1069 | 11634 | 602272 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | TCF4 CL E G H | 6925 | 610954 | Pitt-Hopkins syndrome | 610954 | C1970431 | OMIM | 1 | | 1069 | 11634 | 602272 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | TCF4 CL E G H | 6925 | 610954 | Pitt-Hopkins syndrome | 610954 | C1970431 | OMIM | 1 | | 1069 | 11634 | 602272 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | TGFB1 CL E G H | 7040 | 618213 | INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY | 618213 | | OMIM | 1 | | 286 | 11766 | 190180 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | TGFB1 CL E G H | 7040 | 618213 | INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY | 618213 | | OMIM | 1 | | 286 | 11766 | 190180 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | TGFB1 CL E G H | 7040 | 618213 | INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY | 618213 | | OMIM | 1 | | 286 | 11766 | 190180 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | TMEM70 CL E G H | 54968 | 614052 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 | 614052 | C3279699 | OMIM | 1 | | 325 | 26050 | 612418 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | TMEM70 CL E G H | 54968 | 614052 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 | 614052 | C3279699 | OMIM | 1 | | 325 | 26050 | 612418 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | TMEM70 CL E G H | 54968 | 614052 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 | 614052 | C3279699 | OMIM | 1 | | 325 | 26050 | 612418 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | TRAK1 CL E G H | 22906 | 442835 | | | | ORPHA | 1 | | 208 | 29947 | 608112 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | TRAK1 CL E G H | 22906 | 442835 | | | | ORPHA | 1 | | 208 | 29947 | 608112 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | TRAK1 CL E G H | 22906 | 442835 | | | | ORPHA | 1 | | 208 | 29947 | 608112 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | TRAK1 CL E G H | 22906 | 618201 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 | 618201 | | OMIM | 1 | | 208 | 29947 | 608112 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | TRAK1 CL E G H | 22906 | 618201 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 | 618201 | | OMIM | 1 | | 208 | 29947 | 608112 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | TRAK1 CL E G H | 22906 | 618201 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 | 618201 | | OMIM | 1 | | 208 | 29947 | 608112 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | TRAPPC12 CL E G H | 51112 | 617669 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY | 617669 | C4540059 | OMIM | 1 | | 202 | 24284 | 614139 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | TRAPPC12 CL E G H | 51112 | 617669 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY | 617669 | C4540059 | OMIM | 1 | | 202 | 24284 | 614139 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | TRAPPC12 CL E G H | 51112 | 617669 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY | 617669 | C4540059 | OMIM | 1 | | 202 | 24284 | 614139 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | TRIT1 CL E G H | 54802 | 617873 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35 | 617873 | CN807948 | OMIM | 1 | | 113 | 20286 | 617840 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | TRIT1 CL E G H | 54802 | 617873 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35 | 617873 | CN807948 | OMIM | 1 | | 113 | 20286 | 617840 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | TRIT1 CL E G H | 54802 | 617873 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35 | 617873 | CN807948 | OMIM | 1 | | 113 | 20286 | 617840 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | TSFM CL E G H | 10102 | 610505 | Combined oxidative phosphorylation deficiency 3 | 610505 | C1864840 | OMIM | 1 | | 434 | 12367 | 604723 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | TSFM CL E G H | 10102 | 610505 | Combined oxidative phosphorylation deficiency 3 | 610505 | C1864840 | OMIM | 1 | | 434 | 12367 | 604723 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | TSFM CL E G H | 10102 | 610505 | Combined oxidative phosphorylation deficiency 3 | 610505 | C1864840 | OMIM | 1 | | 434 | 12367 | 604723 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | TUFM CL E G H | 7284 | 610678 | Combined oxidative phosphorylation deficiency 4 | 610678 | C1857682 | OMIM | 1 | | 323 | 12420 | 602389 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | TUFM CL E G H | 7284 | 610678 | Combined oxidative phosphorylation deficiency 4 | 610678 | C1857682 | OMIM | 1 | | 323 | 12420 | 602389 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | TUFM CL E G H | 7284 | 610678 | Combined oxidative phosphorylation deficiency 4 | 610678 | C1857682 | OMIM | 1 | | 323 | 12420 | 602389 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | TWNK CL E G H | 56652 | 271245 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | 271245 | C1849096 | OMIM | 1 | | 450 | 1160 | 606075 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | TWNK CL E G H | 56652 | 271245 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | 271245 | C1849096 | OMIM | 1 | | 450 | 1160 | 606075 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | TWNK CL E G H | 56652 | 271245 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | 271245 | C1849096 | OMIM | 1 | | 450 | 1160 | 606075 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | UBA5 CL E G H | 79876 | 442835 | | | | ORPHA | 1 | | 223 | 23230 | 610552 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | UBA5 CL E G H | 79876 | 442835 | | | | ORPHA | 1 | | 223 | 23230 | 610552 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | UBA5 CL E G H | 79876 | 442835 | | | | ORPHA | 1 | | 223 | 23230 | 610552 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | UBA5 CL E G H | 79876 | 617132 | Epileptic encephalopathy, early infantile, 44 | 617132 | C4310700 | OMIM | 1 | | 223 | 23230 | 610552 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | UBA5 CL E G H | 79876 | 617132 | Epileptic encephalopathy, early infantile, 44 | 617132 | C4310700 | OMIM | 1 | | 223 | 23230 | 610552 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | UBA5 CL E G H | 79876 | 617132 | Epileptic encephalopathy, early infantile, 44 | 617132 | C4310700 | OMIM | 1 | | 223 | 23230 | 610552 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | UGT1A1 CL E G H | 54658 | 218800 | Crigler Najjar syndrome, type 1 | 218800 | | OMIM | 1 | | 315 | 12530 | 191740 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | UGT1A1 CL E G H | 54658 | 218800 | Crigler Najjar syndrome, type 1 | 218800 | | OMIM | 1 | | 315 | 12530 | 191740 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | UGT1A1 CL E G H | 54658 | 218800 | Crigler Najjar syndrome, type 1 | 218800 | | OMIM | 1 | | 315 | 12530 | 191740 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | WWOX CL E G H | 51741 | 442835 | | | | ORPHA | 1 | | 1102 | 12799 | 605131 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | WWOX CL E G H | 51741 | 442835 | | | | ORPHA | 1 | | 1102 | 12799 | 605131 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | WWOX CL E G H | 51741 | 442835 | | | | ORPHA | 1 | | 1102 | 12799 | 605131 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | YWHAG CL E G H | 7532 | 442835 | | | | ORPHA | 1 | | 189 | 12852 | 605356 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | YWHAG CL E G H | 7532 | 442835 | | | | ORPHA | 1 | | 189 | 12852 | 605356 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | YWHAG CL E G H | 7532 | 442835 | | | | ORPHA | 1 | | 189 | 12852 | 605356 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | AMACR CL E G H | 23600 | 79095 | | | | ORPHA | 0 | | 392 | 451 | 604489 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | GPR35 CL E G H | 2859 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 139 | 4492 | 602646 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | MPC1 CL E G H | 51660 | 614741 | Mitochondrial pyruvate carrier deficiency | 614741 | C3553607 | OMIM | 0 | | 98 | 21606 | 614738 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | MST1 CL E G H | 4485 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 57 | 7380 | 142408 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | STAT2 CL E G H | 6773 | 616636 | Immunodeficiency 44 | 616636 | C4225260 | OMIM | 0 | | 406 | 11363 | 600556 |
HP:0001298 | HP:0001298 | Encephalopathy | 0 | TCF4 CL E G H | 6925 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 1069 | 11634 | 602272 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | AMACR CL E G H | 23600 | 79095 | | | | ORPHA | 0 | | 392 | 451 | 604489 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | AMACR CL E G H | 23600 | 79095 | | | | ORPHA | 0 | | 392 | 451 | 604489 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | AMACR CL E G H | 23600 | 79095 | | | | ORPHA | 0 | | 392 | 451 | 604489 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | AMACR CL E G H | 23600 | 79095 | | | | ORPHA | 0 | | 392 | 451 | 604489 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | AMACR CL E G H | 23600 | 79095 | | | | ORPHA | 0 | | 392 | 451 | 604489 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | AMACR CL E G H | 23600 | 79095 | | | | ORPHA | 0 | | 392 | 451 | 604489 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | AMACR CL E G H | 23600 | 79095 | | | | ORPHA | 0 | | 392 | 451 | 604489 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | AMACR CL E G H | 23600 | 79095 | | | | ORPHA | 0 | | 392 | 451 | 604489 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | AMACR CL E G H | 23600 | 79095 | | | | ORPHA | 0 | | 392 | 451 | 604489 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | AMACR CL E G H | 23600 | 79095 | | | | ORPHA | 0 | | 392 | 451 | 604489 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | AMACR CL E G H | 23600 | 79095 | | | | ORPHA | 0 | | 392 | 451 | 604489 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | GPR35 CL E G H | 2859 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 139 | 4492 | 602646 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | GPR35 CL E G H | 2859 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 139 | 4492 | 602646 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | GPR35 CL E G H | 2859 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 139 | 4492 | 602646 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | GPR35 CL E G H | 2859 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 139 | 4492 | 602646 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | GPR35 CL E G H | 2859 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 139 | 4492 | 602646 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | GPR35 CL E G H | 2859 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 139 | 4492 | 602646 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | GPR35 CL E G H | 2859 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 139 | 4492 | 602646 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | GPR35 CL E G H | 2859 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 139 | 4492 | 602646 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | GPR35 CL E G H | 2859 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 139 | 4492 | 602646 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | GPR35 CL E G H | 2859 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 139 | 4492 | 602646 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | GPR35 CL E G H | 2859 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 139 | 4492 | 602646 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | MPC1 CL E G H | 51660 | 614741 | Mitochondrial pyruvate carrier deficiency | 614741 | C3553607 | OMIM | 0 | | 98 | 21606 | 614738 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | MPC1 CL E G H | 51660 | 614741 | Mitochondrial pyruvate carrier deficiency | 614741 | C3553607 | OMIM | 0 | | 98 | 21606 | 614738 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | MPC1 CL E G H | 51660 | 614741 | Mitochondrial pyruvate carrier deficiency | 614741 | C3553607 | OMIM | 0 | | 98 | 21606 | 614738 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | MPC1 CL E G H | 51660 | 614741 | Mitochondrial pyruvate carrier deficiency | 614741 | C3553607 | OMIM | 0 | | 98 | 21606 | 614738 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | MPC1 CL E G H | 51660 | 614741 | Mitochondrial pyruvate carrier deficiency | 614741 | C3553607 | OMIM | 0 | | 98 | 21606 | 614738 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | MPC1 CL E G H | 51660 | 614741 | Mitochondrial pyruvate carrier deficiency | 614741 | C3553607 | OMIM | 0 | | 98 | 21606 | 614738 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | MPC1 CL E G H | 51660 | 614741 | Mitochondrial pyruvate carrier deficiency | 614741 | C3553607 | OMIM | 0 | | 98 | 21606 | 614738 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | MPC1 CL E G H | 51660 | 614741 | Mitochondrial pyruvate carrier deficiency | 614741 | C3553607 | OMIM | 0 | | 98 | 21606 | 614738 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | MPC1 CL E G H | 51660 | 614741 | Mitochondrial pyruvate carrier deficiency | 614741 | C3553607 | OMIM | 0 | | 98 | 21606 | 614738 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | MPC1 CL E G H | 51660 | 614741 | Mitochondrial pyruvate carrier deficiency | 614741 | C3553607 | OMIM | 0 | | 98 | 21606 | 614738 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | MPC1 CL E G H | 51660 | 614741 | Mitochondrial pyruvate carrier deficiency | 614741 | C3553607 | OMIM | 0 | | 98 | 21606 | 614738 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | MST1 CL E G H | 4485 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 57 | 7380 | 142408 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | MST1 CL E G H | 4485 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 57 | 7380 | 142408 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | MST1 CL E G H | 4485 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 57 | 7380 | 142408 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | MST1 CL E G H | 4485 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 57 | 7380 | 142408 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | MST1 CL E G H | 4485 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 57 | 7380 | 142408 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | MST1 CL E G H | 4485 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 57 | 7380 | 142408 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | MST1 CL E G H | 4485 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 57 | 7380 | 142408 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | MST1 CL E G H | 4485 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 57 | 7380 | 142408 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | MST1 CL E G H | 4485 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 57 | 7380 | 142408 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | MST1 CL E G H | 4485 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 57 | 7380 | 142408 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | MST1 CL E G H | 4485 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 57 | 7380 | 142408 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | STAT2 CL E G H | 6773 | 616636 | Immunodeficiency 44 | 616636 | C4225260 | OMIM | 0 | | 406 | 11363 | 600556 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | STAT2 CL E G H | 6773 | 616636 | Immunodeficiency 44 | 616636 | C4225260 | OMIM | 0 | | 406 | 11363 | 600556 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | STAT2 CL E G H | 6773 | 616636 | Immunodeficiency 44 | 616636 | C4225260 | OMIM | 0 | | 406 | 11363 | 600556 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | STAT2 CL E G H | 6773 | 616636 | Immunodeficiency 44 | 616636 | C4225260 | OMIM | 0 | | 406 | 11363 | 600556 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | STAT2 CL E G H | 6773 | 616636 | Immunodeficiency 44 | 616636 | C4225260 | OMIM | 0 | | 406 | 11363 | 600556 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | STAT2 CL E G H | 6773 | 616636 | Immunodeficiency 44 | 616636 | C4225260 | OMIM | 0 | | 406 | 11363 | 600556 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | STAT2 CL E G H | 6773 | 616636 | Immunodeficiency 44 | 616636 | C4225260 | OMIM | 0 | | 406 | 11363 | 600556 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | STAT2 CL E G H | 6773 | 616636 | Immunodeficiency 44 | 616636 | C4225260 | OMIM | 0 | | 406 | 11363 | 600556 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | STAT2 CL E G H | 6773 | 616636 | Immunodeficiency 44 | 616636 | C4225260 | OMIM | 0 | | 406 | 11363 | 600556 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | STAT2 CL E G H | 6773 | 616636 | Immunodeficiency 44 | 616636 | C4225260 | OMIM | 0 | | 406 | 11363 | 600556 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | STAT2 CL E G H | 6773 | 616636 | Immunodeficiency 44 | 616636 | C4225260 | OMIM | 0 | | 406 | 11363 | 600556 |
HP:0001298 | HP:0007030 | Nonprogressive encephalopathy | 1 | TCF4 CL E G H | 6925 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 1069 | 11634 | 602272 |
HP:0001298 | HP:0007239 | Congenital encephalopathy | 1 | TCF4 CL E G H | 6925 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 1069 | 11634 | 602272 |
HP:0001298 | HP:0006929 | Hypoglycemic encephalopathy | 1 | TCF4 CL E G H | 6925 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 1069 | 11634 | 602272 |
HP:0001298 | HP:0007335 | Recurrent encephalopathy | 1 | TCF4 CL E G H | 6925 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 1069 | 11634 | 602272 |
HP:0001298 | HP:0006976 | Necrotizing encephalopathy | 1 | TCF4 CL E G H | 6925 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 1069 | 11634 | 602272 |
HP:0001298 | HP:0002448 | Progressive encephalopathy | 1 | TCF4 CL E G H | 6925 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 1069 | 11634 | 602272 |
HP:0001298 | HP:0006846 | Acute encephalopathy | 1 | TCF4 CL E G H | 6925 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 1069 | 11634 | 602272 |
HP:0001298 | HP:0002480 | Hepatic encephalopathy | 1 | TCF4 CL E G H | 6925 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 1069 | 11634 | 602272 |
HP:0001298 | HP:0006789 | Mitochondrial encephalopathy | 1 | TCF4 CL E G H | 6925 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 1069 | 11634 | 602272 |
HP:0001298 | HP:0200134 | Epileptic encephalopathy | 1 | TCF4 CL E G H | 6925 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 1069 | 11634 | 602272 |
HP:0001298 | HP:0007105 | Infantile encephalopathy | 1 | TCF4 CL E G H | 6925 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 1069 | 11634 | 602272 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | AMACR CL E G H | 23600 | 79095 | | | | ORPHA | 0 | | 392 | 451 | 604489 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | AMACR CL E G H | 23600 | 79095 | | | | ORPHA | 0 | | 392 | 451 | 604489 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | AMACR CL E G H | 23600 | 79095 | | | | ORPHA | 0 | | 392 | 451 | 604489 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | GPR35 CL E G H | 2859 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 139 | 4492 | 602646 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | GPR35 CL E G H | 2859 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 139 | 4492 | 602646 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | GPR35 CL E G H | 2859 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 139 | 4492 | 602646 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | MPC1 CL E G H | 51660 | 614741 | Mitochondrial pyruvate carrier deficiency | 614741 | C3553607 | OMIM | 0 | | 98 | 21606 | 614738 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | MPC1 CL E G H | 51660 | 614741 | Mitochondrial pyruvate carrier deficiency | 614741 | C3553607 | OMIM | 0 | | 98 | 21606 | 614738 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | MPC1 CL E G H | 51660 | 614741 | Mitochondrial pyruvate carrier deficiency | 614741 | C3553607 | OMIM | 0 | | 98 | 21606 | 614738 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | MST1 CL E G H | 4485 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 57 | 7380 | 142408 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | MST1 CL E G H | 4485 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 57 | 7380 | 142408 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | MST1 CL E G H | 4485 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 57 | 7380 | 142408 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | STAT2 CL E G H | 6773 | 616636 | Immunodeficiency 44 | 616636 | C4225260 | OMIM | 0 | | 406 | 11363 | 600556 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | STAT2 CL E G H | 6773 | 616636 | Immunodeficiency 44 | 616636 | C4225260 | OMIM | 0 | | 406 | 11363 | 600556 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | STAT2 CL E G H | 6773 | 616636 | Immunodeficiency 44 | 616636 | C4225260 | OMIM | 0 | | 406 | 11363 | 600556 |
HP:0001298 | HP:0006965 | Acute necrotizing encephalopathy | 2 | TCF4 CL E G H | 6925 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 1069 | 11634 | 602272 |
HP:0001298 | HP:0007111 | Chronic hepatic encephalopathy | 2 | TCF4 CL E G H | 6925 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 1069 | 11634 | 602272 |
HP:0001298 | HP:0007069 | Profound static encephalopathy | 2 | TCF4 CL E G H | 6925 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 0 | | 1069 | 11634 | 602272 |