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:0001410 | HP:0001410 | Decreased liver function | 0 | ADK CL E G H | 132 | 614300 | Hypermethioninemia due to adenosine kinase deficiency | 614300 | C3280381 | OMIM | 1 | | 137 | 257 | 102750 |
HP:0001410 | HP:0001410 | Decreased liver function | 0 | ALG8 CL E G H | 79053 | 608104 | Congenital disorder of glycosylation type 1H | 608104 | C2931002 | OMIM | 1 | | 286 | 23161 | 608103 |
HP:0001410 | HP:0001410 | Decreased liver function | 0 | APOPT1 CL E G H | 84334 | 436271 | | | | ORPHA | 1 | | 197 | 20492 | 616003 |
HP:0001410 | HP:0001410 | Decreased liver function | 0 | APOPT1 CL E G H | 84334 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 197 | 20492 | 616003 |
HP:0001410 | HP:0001410 | Decreased liver function | 0 | BCS1L CL E G H | 617 | 124000 | Mitochondrial complex III deficiency | 124000 | C1852372 | OMIM | 1 | | 413 | 1020 | 603647 |
HP:0001410 | HP:0001410 | Decreased liver function | 0 | BLVRA CL E G H | 644 | 614156 | Hyperbiliverdinemia | 614156 | C3279964 | OMIM | 1 | | 57 | 1062 | 109750 |
HP:0001410 | HP:0001410 | Decreased liver function | 0 | CCDC47 CL E G H | 57003 | 618268 | 618268 | 618268 | | OMIM | 1 | | 45 | 24856 | 0 |
HP:0001410 | HP:0001410 | Decreased liver function | 0 | COA7 CL E G H | 65260 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 58 | 25716 | 615623 |
HP:0001410 | HP:0001410 | Decreased liver function | 0 | COG2 CL E G H | 22796 | 435934 | | | | ORPHA | 1 | | 228 | 6546 | 606974 |
HP:0001410 | HP:0001410 | Decreased liver function | 0 | COG7 CL E G H | 91949 | 608779 | COG7 congenital disorder of glycosylation | 608779 | C2931010 | OMIM | 1 | | 456 | 18622 | 606978 |
HP:0001410 | HP:0001410 | Decreased liver function | 0 | COX10 CL E G H | 1352 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 356 | 2260 | 602125 |
HP:0001410 | HP:0001410 | Decreased liver function | 0 | COX14 CL E G H | 84987 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 38 | 28216 | 614478 |
HP:0001410 | HP:0001410 | Decreased liver function | 0 | COX20 CL E G H | 116228 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 206 | 26970 | 614698 |
HP:0001410 | HP:0001410 | Decreased liver function | 0 | COX6B1 CL E G H | 1340 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 68 | 2280 | 124089 |
HP:0001410 | HP:0001410 | Decreased liver function | 0 | COX8A CL E G H | 1351 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 32 | 2294 | 123870 |
HP:0001410 | HP:0001410 | Decreased liver function | 0 | DDOST CL E G H | 1650 | 614507 | Congenital disorder of glycosylation type Ir | 614507 | C3281084 | OMIM | 1 | | 253 | 2728 | 602202 |
HP:0001410 | HP:0001410 | Decreased liver function | 0 | FADD CL E G H | 8772 | 306550 | | | | ORPHA | 1 | | 110 | 3573 | 602457 |
HP:0001410 | HP:0001410 | Decreased liver function | 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:0001410 | HP:0001410 | Decreased liver function | 0 | FASTKD2 CL E G H | 22868 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 401 | 29160 | 612322 |
HP:0001410 | HP:0001410 | Decreased liver function | 0 | GALT CL E G H | 2592 | 230400 | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 230400 | C0268151 | OMIM | 1 | | 719 | 4135 | 606999 |
HP:0001410 | HP:0001410 | Decreased liver function | 0 | LARS2 CL E G H | 23395 | 617021 | Hydrops, lactic acidosis, and sideroblastic anemia | 617021 | C4310761 | OMIM | 1 | | 416 | 17095 | 604544 |
HP:0001410 | HP:0001410 | Decreased liver function | 0 | LIPT1 CL E G H | 51601 | 616299 | Lipoyltransferase 1 deficiency | 616299 | C4225379 | OMIM | 1 | | 124 | 29569 | 610284 |
HP:0001410 | HP:0001410 | Decreased liver function | 0 | MARS CL E G H | 4141 | 615486 | Interstitial lung and liver disease | 615486 | C4225400 | OMIM | 1 | | | 6898 | 156560 |
HP:0001410 | HP:0001410 | Decreased liver function | 0 | MT-TN CL E G H | 4570 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | | 7493 | 590010 |
HP:0001410 | HP:0001410 | Decreased liver function | 0 | MT-TS1 CL E G H | 4574 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | | 7497 | 590080 |
HP:0001410 | HP:0001410 | Decreased liver function | 0 | MTM1 CL E G H | 4534 | 310400 | Severe X-linked myotubular myopathy | 310400 | C0410203 | OMIM | 1 | | 807 | 7448 | 300415 |
HP:0001410 | HP:0001410 | Decreased liver function | 0 | OCLN CL E G H | 100506658 | 251290 | Band-like calcification with simplified gyration and polymicrogyria | 251290 | C3489725 | OMIM | 1 | | 138 | 8104 | 602876 |
HP:0001410 | HP:0001410 | Decreased liver function | 0 | PET100 CL E G H | 100131801 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 76 | 40038 | 614770 |
HP:0001410 | HP:0001410 | Decreased liver function | 0 | PEX10 CL E G H | 5192 | 614870 | Peroxisome biogenesis disorder 6A | 614870 | C3553947 | OMIM | 1 | | 803 | 8851 | 602859 |
HP:0001410 | HP:0001410 | Decreased liver function | 0 | PEX10 CL E G H | 5192 | 614871 | Peroxisome biogenesis disorder 6B | 614871 | C3553948 | OMIM | 1 | | 803 | 8851 | 602859 |
HP:0001410 | HP:0001410 | Decreased liver function | 0 | PEX13 CL E G H | 5194 | 614883 | Peroxisome biogenesis disorder 11A | 614883 | C3554000 | OMIM | 1 | | 497 | 8855 | 601789 |
HP:0001410 | HP:0001410 | Decreased liver function | 0 | PEX16 CL E G H | 9409 | 614877 | Peroxisome biogenesis disorder 8B | 614877 | C3553960 | OMIM | 1 | | 470 | 8857 | 603360 |
HP:0001410 | HP:0001410 | Decreased liver function | 0 | PEX2 CL E G H | 5828 | 614867 | Peroxisome biogenesis disorder 5B | 614867 | C3542026 | OMIM | 1 | | 463 | 9717 | 170993 |
HP:0001410 | HP:0001410 | Decreased liver function | 0 | PEX26 CL E G H | 55670 | 614873 | Peroxisome biogenesis disorder 7B | 614873 | C3553951 | OMIM | 1 | | 522 | 22965 | 608666 |
HP:0001410 | HP:0001410 | Decreased liver function | 0 | PEX6 CL E G H | 5190 | 614863 | Peroxisome biogenesis disorder 4B | 614863 | C3553937 | OMIM | 1 | | 1458 | 8859 | 601498 |
HP:0001410 | HP:0001410 | Decreased liver function | 0 | RMND1 CL E G H | 55005 | 614922 | Combined oxidative phosphorylation deficiency 11 | 614922 | C3554067 | OMIM | 1 | | 262 | 21176 | 614917 |
HP:0001410 | HP:0001410 | Decreased liver function | 0 | SCO1 CL E G H | 6341 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 212 | 10603 | 603644 |
HP:0001410 | HP:0001410 | Decreased liver function | 0 | SLC25A15 CL E G H | 10166 | 238970 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 238970 | C0268540 | OMIM | 1 | | 405 | 10985 | 603861 |
HP:0001410 | HP:0001410 | Decreased liver function | 0 | SLC30A10 CL E G H | 55532 | 613280 | Hypermanganesemia with dystonia 1 | 613280 | | OMIM | 1 | | 275 | 25355 | 611146 |
HP:0001410 | HP:0001410 | Decreased liver function | 0 | STT3B CL E G H | 201595 | 615597 | Congenital disorder of glycosylation type 1x | 615597 | C2931007 | OMIM | 1 | | 158 | 30611 | 608605 |
HP:0001410 | HP:0001410 | Decreased liver function | 0 | TACO1 CL E G H | 51204 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 117 | 24316 | 612958 |
HP:0001410 | HP:0001410 | Decreased liver function | 0 | TALDO1 CL E G H | 6888 | 606003 | Deficiency of transaldolase | 606003 | C1291329 | OMIM | 1 | | 210 | 11559 | 602063 |
HP:0001410 | HP:0001410 | Decreased liver function | 0 | TMEM199 CL E G H | 147007 | 616829 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp | 616829 | C4225190 | OMIM | 1 | | 82 | 18085 | 616815 |
HP:0001410 | HP:0001410 | Decreased liver function | 0 | TRMT10C CL E G H | 54931 | 616974 | Combined oxidative phosphorylation deficiency 30 | 616974 | C4310773 | OMIM | 1 | | 54 | 26022 | 615423 |
HP:0001410 | HP:0001410 | Decreased liver function | 0 | UQCRC2 CL E G H | 7385 | 615160 | Mitochondrial complex III deficiency, nuclear type 5 | 615160 | C3554608 | OMIM | 1 | | 235 | 12586 | 191329 |
HP:0001410 | HP:0001410 | Decreased liver function | 0 | USP18 CL E G H | 11274 | 617397 | Pseudo-torch syndrome 2 | 617397 | C4479376 | OMIM | 1 | | 165 | 12616 | 607057 |
HP:0001410 | HP:0001399 | Hepatic failure | 1 | ADK CL E G H | 132 | 614300 | Hypermethioninemia due to adenosine kinase deficiency | 614300 | C3280381 | OMIM | 1 | | 137 | 257 | 102750 |
HP:0001410 | HP:0001399 | Hepatic failure | 1 | ALG8 CL E G H | 79053 | 608104 | Congenital disorder of glycosylation type 1H | 608104 | C2931002 | OMIM | 1 | | 286 | 23161 | 608103 |
HP:0001410 | HP:0001399 | Hepatic failure | 1 | APOPT1 CL E G H | 84334 | 436271 | | | | ORPHA | 1 | | 197 | 20492 | 616003 |
HP:0001410 | HP:0001399 | Hepatic failure | 1 | APOPT1 CL E G H | 84334 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 197 | 20492 | 616003 |
HP:0001410 | HP:0001399 | Hepatic failure | 1 | BCS1L CL E G H | 617 | 124000 | Mitochondrial complex III deficiency | 124000 | C1852372 | OMIM | 1 | | 413 | 1020 | 603647 |
HP:0001410 | HP:0001399 | Hepatic failure | 1 | BLVRA CL E G H | 644 | 614156 | Hyperbiliverdinemia | 614156 | C3279964 | OMIM | 1 | | 57 | 1062 | 109750 |
HP:0001410 | HP:0001399 | Hepatic failure | 1 | CCDC47 CL E G H | 57003 | 618268 | 618268 | 618268 | | OMIM | 1 | | 45 | 24856 | 0 |
HP:0001410 | HP:0001399 | Hepatic failure | 1 | COA7 CL E G H | 65260 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 58 | 25716 | 615623 |
HP:0001410 | HP:0001399 | Hepatic failure | 1 | COG2 CL E G H | 22796 | 435934 | | | | ORPHA | 1 | | 228 | 6546 | 606974 |
HP:0001410 | HP:0001399 | Hepatic failure | 1 | COG7 CL E G H | 91949 | 608779 | COG7 congenital disorder of glycosylation | 608779 | C2931010 | OMIM | 1 | | 456 | 18622 | 606978 |
HP:0001410 | HP:0001399 | Hepatic failure | 1 | COX10 CL E G H | 1352 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 356 | 2260 | 602125 |
HP:0001410 | HP:0001399 | Hepatic failure | 1 | COX14 CL E G H | 84987 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 38 | 28216 | 614478 |
HP:0001410 | HP:0001399 | Hepatic failure | 1 | COX20 CL E G H | 116228 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 206 | 26970 | 614698 |
HP:0001410 | HP:0001399 | Hepatic failure | 1 | COX6B1 CL E G H | 1340 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 68 | 2280 | 124089 |
HP:0001410 | HP:0001399 | Hepatic failure | 1 | COX8A CL E G H | 1351 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 32 | 2294 | 123870 |
HP:0001410 | HP:0001399 | Hepatic failure | 1 | DDOST CL E G H | 1650 | 614507 | Congenital disorder of glycosylation type Ir | 614507 | C3281084 | OMIM | 1 | | 253 | 2728 | 602202 |
HP:0001410 | HP:0001399 | Hepatic failure | 1 | FADD CL E G H | 8772 | 306550 | | | | ORPHA | 1 | | 110 | 3573 | 602457 |
HP:0001410 | HP:0001399 | Hepatic failure | 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:0001410 | HP:0001399 | Hepatic failure | 1 | FASTKD2 CL E G H | 22868 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 401 | 29160 | 612322 |
HP:0001410 | HP:0001399 | Hepatic failure | 1 | GALT CL E G H | 2592 | 230400 | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 230400 | C0268151 | OMIM | 1 | | 719 | 4135 | 606999 |
HP:0001410 | HP:0001399 | Hepatic failure | 1 | LARS2 CL E G H | 23395 | 617021 | Hydrops, lactic acidosis, and sideroblastic anemia | 617021 | C4310761 | OMIM | 1 | | 416 | 17095 | 604544 |
HP:0001410 | HP:0001399 | Hepatic failure | 1 | LIPT1 CL E G H | 51601 | 616299 | Lipoyltransferase 1 deficiency | 616299 | C4225379 | OMIM | 1 | | 124 | 29569 | 610284 |
HP:0001410 | HP:0001399 | Hepatic failure | 1 | MARS CL E G H | 4141 | 615486 | Interstitial lung and liver disease | 615486 | C4225400 | OMIM | 1 | | | 6898 | 156560 |
HP:0001410 | HP:0001399 | Hepatic failure | 1 | MT-TN CL E G H | 4570 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | | 7493 | 590010 |
HP:0001410 | HP:0001399 | Hepatic failure | 1 | MT-TS1 CL E G H | 4574 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | | 7497 | 590080 |
HP:0001410 | HP:0001399 | Hepatic failure | 1 | MTM1 CL E G H | 4534 | 310400 | Severe X-linked myotubular myopathy | 310400 | C0410203 | OMIM | 1 | | 807 | 7448 | 300415 |
HP:0001410 | HP:0001399 | Hepatic failure | 1 | OCLN CL E G H | 100506658 | 251290 | Band-like calcification with simplified gyration and polymicrogyria | 251290 | C3489725 | OMIM | 1 | | 138 | 8104 | 602876 |
HP:0001410 | HP:0001399 | Hepatic failure | 1 | PET100 CL E G H | 100131801 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 76 | 40038 | 614770 |
HP:0001410 | HP:0001399 | Hepatic failure | 1 | PEX10 CL E G H | 5192 | 614870 | Peroxisome biogenesis disorder 6A | 614870 | C3553947 | OMIM | 1 | | 803 | 8851 | 602859 |
HP:0001410 | HP:0001399 | Hepatic failure | 1 | PEX10 CL E G H | 5192 | 614871 | Peroxisome biogenesis disorder 6B | 614871 | C3553948 | OMIM | 1 | | 803 | 8851 | 602859 |
HP:0001410 | HP:0001399 | Hepatic failure | 1 | PEX13 CL E G H | 5194 | 614883 | Peroxisome biogenesis disorder 11A | 614883 | C3554000 | OMIM | 1 | | 497 | 8855 | 601789 |
HP:0001410 | HP:0001399 | Hepatic failure | 1 | PEX16 CL E G H | 9409 | 614877 | Peroxisome biogenesis disorder 8B | 614877 | C3553960 | OMIM | 1 | | 470 | 8857 | 603360 |
HP:0001410 | HP:0001399 | Hepatic failure | 1 | PEX2 CL E G H | 5828 | 614867 | Peroxisome biogenesis disorder 5B | 614867 | C3542026 | OMIM | 1 | | 463 | 9717 | 170993 |
HP:0001410 | HP:0001399 | Hepatic failure | 1 | PEX26 CL E G H | 55670 | 614873 | Peroxisome biogenesis disorder 7B | 614873 | C3553951 | OMIM | 1 | | 522 | 22965 | 608666 |
HP:0001410 | HP:0001399 | Hepatic failure | 1 | PEX6 CL E G H | 5190 | 614863 | Peroxisome biogenesis disorder 4B | 614863 | C3553937 | OMIM | 1 | | 1458 | 8859 | 601498 |
HP:0001410 | HP:0001399 | Hepatic failure | 1 | RMND1 CL E G H | 55005 | 614922 | Combined oxidative phosphorylation deficiency 11 | 614922 | C3554067 | OMIM | 1 | | 262 | 21176 | 614917 |
HP:0001410 | HP:0001399 | Hepatic failure | 1 | SCO1 CL E G H | 6341 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 212 | 10603 | 603644 |
HP:0001410 | HP:0001399 | Hepatic failure | 1 | SLC25A15 CL E G H | 10166 | 238970 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 238970 | C0268540 | OMIM | 1 | | 405 | 10985 | 603861 |
HP:0001410 | HP:0001399 | Hepatic failure | 1 | SLC30A10 CL E G H | 55532 | 613280 | Hypermanganesemia with dystonia 1 | 613280 | | OMIM | 1 | | 275 | 25355 | 611146 |
HP:0001410 | HP:0001399 | Hepatic failure | 1 | STT3B CL E G H | 201595 | 615597 | Congenital disorder of glycosylation type 1x | 615597 | C2931007 | OMIM | 1 | | 158 | 30611 | 608605 |
HP:0001410 | HP:0001399 | Hepatic failure | 1 | TACO1 CL E G H | 51204 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 117 | 24316 | 612958 |
HP:0001410 | HP:0001399 | Hepatic failure | 1 | TALDO1 CL E G H | 6888 | 606003 | Deficiency of transaldolase | 606003 | C1291329 | OMIM | 1 | | 210 | 11559 | 602063 |
HP:0001410 | HP:0001399 | Hepatic failure | 1 | TMEM199 CL E G H | 147007 | 616829 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp | 616829 | C4225190 | OMIM | 1 | | 82 | 18085 | 616815 |
HP:0001410 | HP:0001399 | Hepatic failure | 1 | TRMT10C CL E G H | 54931 | 616974 | Combined oxidative phosphorylation deficiency 30 | 616974 | C4310773 | OMIM | 1 | | 54 | 26022 | 615423 |
HP:0001410 | HP:0001399 | Hepatic failure | 1 | UQCRC2 CL E G H | 7385 | 615160 | Mitochondrial complex III deficiency, nuclear type 5 | 615160 | C3554608 | OMIM | 1 | | 235 | 12586 | 191329 |
HP:0001410 | HP:0001399 | Hepatic failure | 1 | USP18 CL E G H | 11274 | 617397 | Pseudo-torch syndrome 2 | 617397 | C4479376 | OMIM | 1 | | 165 | 12616 | 607057 |
HP:0001410 | HP:0006583 | Fatal liver failure in infancy | 2 | ADK CL E G H | 132 | 614300 | Hypermethioninemia due to adenosine kinase deficiency | 614300 | C3280381 | OMIM | 1 | | 137 | 257 | 102750 |
HP:0001410 | HP:0006554 | Acute hepatic failure | 2 | ADK CL E G H | 132 | 614300 | Hypermethioninemia due to adenosine kinase deficiency | 614300 | C3280381 | OMIM | 1 | | 137 | 257 | 102750 |
HP:0001410 | HP:0100626 | Chronic hepatic failure | 2 | ADK CL E G H | 132 | 614300 | Hypermethioninemia due to adenosine kinase deficiency | 614300 | C3280381 | OMIM | 1 | | 137 | 257 | 102750 |
HP:0001410 | HP:0006583 | Fatal liver failure in infancy | 2 | ALG8 CL E G H | 79053 | 608104 | Congenital disorder of glycosylation type 1H | 608104 | C2931002 | OMIM | 1 | | 286 | 23161 | 608103 |
HP:0001410 | HP:0006554 | Acute hepatic failure | 2 | ALG8 CL E G H | 79053 | 608104 | Congenital disorder of glycosylation type 1H | 608104 | C2931002 | OMIM | 1 | | 286 | 23161 | 608103 |
HP:0001410 | HP:0100626 | Chronic hepatic failure | 2 | ALG8 CL E G H | 79053 | 608104 | Congenital disorder of glycosylation type 1H | 608104 | C2931002 | OMIM | 1 | | 286 | 23161 | 608103 |
HP:0001410 | HP:0006554 | Acute hepatic failure | 2 | APOPT1 CL E G H | 84334 | 436271 | | | | ORPHA | 1 | | 197 | 20492 | 616003 |
HP:0001410 | HP:0006583 | Fatal liver failure in infancy | 2 | APOPT1 CL E G H | 84334 | 436271 | | | | ORPHA | 1 | | 197 | 20492 | 616003 |
HP:0001410 | HP:0100626 | Chronic hepatic failure | 2 | APOPT1 CL E G H | 84334 | 436271 | | | | ORPHA | 1 | | 197 | 20492 | 616003 |
HP:0001410 | HP:0006583 | Fatal liver failure in infancy | 2 | APOPT1 CL E G H | 84334 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 197 | 20492 | 616003 |
HP:0001410 | HP:0006554 | Acute hepatic failure | 2 | APOPT1 CL E G H | 84334 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 197 | 20492 | 616003 |
HP:0001410 | HP:0100626 | Chronic hepatic failure | 2 | APOPT1 CL E G H | 84334 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 197 | 20492 | 616003 |
HP:0001410 | HP:0006554 | Acute hepatic failure | 2 | BCS1L CL E G H | 617 | 124000 | Mitochondrial complex III deficiency | 124000 | C1852372 | OMIM | 1 | | 413 | 1020 | 603647 |
HP:0001410 | HP:0006583 | Fatal liver failure in infancy | 2 | BCS1L CL E G H | 617 | 124000 | Mitochondrial complex III deficiency | 124000 | C1852372 | OMIM | 1 | | 413 | 1020 | 603647 |
HP:0001410 | HP:0100626 | Chronic hepatic failure | 2 | BCS1L CL E G H | 617 | 124000 | Mitochondrial complex III deficiency | 124000 | C1852372 | OMIM | 1 | | 413 | 1020 | 603647 |
HP:0001410 | HP:0006554 | Acute hepatic failure | 2 | BLVRA CL E G H | 644 | 614156 | Hyperbiliverdinemia | 614156 | C3279964 | OMIM | 1 | | 57 | 1062 | 109750 |
HP:0001410 | HP:0006583 | Fatal liver failure in infancy | 2 | BLVRA CL E G H | 644 | 614156 | Hyperbiliverdinemia | 614156 | C3279964 | OMIM | 1 | | 57 | 1062 | 109750 |
HP:0001410 | HP:0100626 | Chronic hepatic failure | 2 | BLVRA CL E G H | 644 | 614156 | Hyperbiliverdinemia | 614156 | C3279964 | OMIM | 1 | | 57 | 1062 | 109750 |
HP:0001410 | HP:0006583 | Fatal liver failure in infancy | 2 | CCDC47 CL E G H | 57003 | 618268 | 618268 | 618268 | | OMIM | 1 | | 45 | 24856 | 0 |
HP:0001410 | HP:0006554 | Acute hepatic failure | 2 | CCDC47 CL E G H | 57003 | 618268 | 618268 | 618268 | | OMIM | 1 | | 45 | 24856 | 0 |
HP:0001410 | HP:0100626 | Chronic hepatic failure | 2 | CCDC47 CL E G H | 57003 | 618268 | 618268 | 618268 | | OMIM | 1 | | 45 | 24856 | 0 |
HP:0001410 | HP:0006554 | Acute hepatic failure | 2 | COA7 CL E G H | 65260 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 58 | 25716 | 615623 |
HP:0001410 | HP:0006583 | Fatal liver failure in infancy | 2 | COA7 CL E G H | 65260 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 58 | 25716 | 615623 |
HP:0001410 | HP:0100626 | Chronic hepatic failure | 2 | COA7 CL E G H | 65260 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 58 | 25716 | 615623 |
HP:0001410 | HP:0006554 | Acute hepatic failure | 2 | COG2 CL E G H | 22796 | 435934 | | | | ORPHA | 1 | | 228 | 6546 | 606974 |
HP:0001410 | HP:0006583 | Fatal liver failure in infancy | 2 | COG2 CL E G H | 22796 | 435934 | | | | ORPHA | 1 | | 228 | 6546 | 606974 |
HP:0001410 | HP:0100626 | Chronic hepatic failure | 2 | COG2 CL E G H | 22796 | 435934 | | | | ORPHA | 1 | | 228 | 6546 | 606974 |
HP:0001410 | HP:0006554 | Acute hepatic failure | 2 | COG7 CL E G H | 91949 | 608779 | COG7 congenital disorder of glycosylation | 608779 | C2931010 | OMIM | 1 | | 456 | 18622 | 606978 |
HP:0001410 | HP:0006583 | Fatal liver failure in infancy | 2 | COG7 CL E G H | 91949 | 608779 | COG7 congenital disorder of glycosylation | 608779 | C2931010 | OMIM | 1 | | 456 | 18622 | 606978 |
HP:0001410 | HP:0100626 | Chronic hepatic failure | 2 | COG7 CL E G H | 91949 | 608779 | COG7 congenital disorder of glycosylation | 608779 | C2931010 | OMIM | 1 | | 456 | 18622 | 606978 |
HP:0001410 | HP:0100626 | Chronic hepatic failure | 2 | COX10 CL E G H | 1352 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 356 | 2260 | 602125 |
HP:0001410 | HP:0006554 | Acute hepatic failure | 2 | COX10 CL E G H | 1352 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 356 | 2260 | 602125 |
HP:0001410 | HP:0006583 | Fatal liver failure in infancy | 2 | COX10 CL E G H | 1352 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 356 | 2260 | 602125 |
HP:0001410 | HP:0006554 | Acute hepatic failure | 2 | COX14 CL E G H | 84987 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 38 | 28216 | 614478 |
HP:0001410 | HP:0006583 | Fatal liver failure in infancy | 2 | COX14 CL E G H | 84987 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 38 | 28216 | 614478 |
HP:0001410 | HP:0100626 | Chronic hepatic failure | 2 | COX14 CL E G H | 84987 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 38 | 28216 | 614478 |
HP:0001410 | HP:0006583 | Fatal liver failure in infancy | 2 | COX20 CL E G H | 116228 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 206 | 26970 | 614698 |
HP:0001410 | HP:0006554 | Acute hepatic failure | 2 | COX20 CL E G H | 116228 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 206 | 26970 | 614698 |
HP:0001410 | HP:0100626 | Chronic hepatic failure | 2 | COX20 CL E G H | 116228 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 206 | 26970 | 614698 |
HP:0001410 | HP:0006554 | Acute hepatic failure | 2 | COX6B1 CL E G H | 1340 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 68 | 2280 | 124089 |
HP:0001410 | HP:0006583 | Fatal liver failure in infancy | 2 | COX6B1 CL E G H | 1340 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 68 | 2280 | 124089 |
HP:0001410 | HP:0100626 | Chronic hepatic failure | 2 | COX6B1 CL E G H | 1340 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 68 | 2280 | 124089 |
HP:0001410 | HP:0100626 | Chronic hepatic failure | 2 | COX8A CL E G H | 1351 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 32 | 2294 | 123870 |
HP:0001410 | HP:0006554 | Acute hepatic failure | 2 | COX8A CL E G H | 1351 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 32 | 2294 | 123870 |
HP:0001410 | HP:0006583 | Fatal liver failure in infancy | 2 | COX8A CL E G H | 1351 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 32 | 2294 | 123870 |
HP:0001410 | HP:0100626 | Chronic hepatic failure | 2 | DDOST CL E G H | 1650 | 614507 | Congenital disorder of glycosylation type Ir | 614507 | C3281084 | OMIM | 1 | | 253 | 2728 | 602202 |
HP:0001410 | HP:0006554 | Acute hepatic failure | 2 | DDOST CL E G H | 1650 | 614507 | Congenital disorder of glycosylation type Ir | 614507 | C3281084 | OMIM | 1 | | 253 | 2728 | 602202 |
HP:0001410 | HP:0006583 | Fatal liver failure in infancy | 2 | DDOST CL E G H | 1650 | 614507 | Congenital disorder of glycosylation type Ir | 614507 | C3281084 | OMIM | 1 | | 253 | 2728 | 602202 |
HP:0001410 | HP:0100626 | Chronic hepatic failure | 2 | FADD CL E G H | 8772 | 306550 | | | | ORPHA | 1 | | 110 | 3573 | 602457 |
HP:0001410 | HP:0006554 | Acute hepatic failure | 2 | FADD CL E G H | 8772 | 306550 | | | | ORPHA | 1 | | 110 | 3573 | 602457 |
HP:0001410 | HP:0006583 | Fatal liver failure in infancy | 2 | FADD CL E G H | 8772 | 306550 | | | | ORPHA | 1 | | 110 | 3573 | 602457 |
HP:0001410 | HP:0006554 | Acute hepatic failure | 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:0001410 | HP:0006583 | Fatal liver failure in infancy | 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:0001410 | HP:0100626 | Chronic hepatic failure | 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:0001410 | HP:0006554 | Acute hepatic failure | 2 | FASTKD2 CL E G H | 22868 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 401 | 29160 | 612322 |
HP:0001410 | HP:0006583 | Fatal liver failure in infancy | 2 | FASTKD2 CL E G H | 22868 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 401 | 29160 | 612322 |
HP:0001410 | HP:0100626 | Chronic hepatic failure | 2 | FASTKD2 CL E G H | 22868 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 401 | 29160 | 612322 |
HP:0001410 | HP:0006554 | Acute hepatic failure | 2 | GALT CL E G H | 2592 | 230400 | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 230400 | C0268151 | OMIM | 1 | | 719 | 4135 | 606999 |
HP:0001410 | HP:0006583 | Fatal liver failure in infancy | 2 | GALT CL E G H | 2592 | 230400 | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 230400 | C0268151 | OMIM | 1 | | 719 | 4135 | 606999 |
HP:0001410 | HP:0100626 | Chronic hepatic failure | 2 | GALT CL E G H | 2592 | 230400 | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 230400 | C0268151 | OMIM | 1 | | 719 | 4135 | 606999 |
HP:0001410 | HP:0006583 | Fatal liver failure in infancy | 2 | LARS2 CL E G H | 23395 | 617021 | Hydrops, lactic acidosis, and sideroblastic anemia | 617021 | C4310761 | OMIM | 1 | | 416 | 17095 | 604544 |
HP:0001410 | HP:0006554 | Acute hepatic failure | 2 | LARS2 CL E G H | 23395 | 617021 | Hydrops, lactic acidosis, and sideroblastic anemia | 617021 | C4310761 | OMIM | 1 | | 416 | 17095 | 604544 |
HP:0001410 | HP:0100626 | Chronic hepatic failure | 2 | LARS2 CL E G H | 23395 | 617021 | Hydrops, lactic acidosis, and sideroblastic anemia | 617021 | C4310761 | OMIM | 1 | | 416 | 17095 | 604544 |
HP:0001410 | HP:0100626 | Chronic hepatic failure | 2 | LIPT1 CL E G H | 51601 | 616299 | Lipoyltransferase 1 deficiency | 616299 | C4225379 | OMIM | 1 | | 124 | 29569 | 610284 |
HP:0001410 | HP:0006554 | Acute hepatic failure | 2 | LIPT1 CL E G H | 51601 | 616299 | Lipoyltransferase 1 deficiency | 616299 | C4225379 | OMIM | 1 | | 124 | 29569 | 610284 |
HP:0001410 | HP:0006583 | Fatal liver failure in infancy | 2 | LIPT1 CL E G H | 51601 | 616299 | Lipoyltransferase 1 deficiency | 616299 | C4225379 | OMIM | 1 | | 124 | 29569 | 610284 |
HP:0001410 | HP:0006583 | Fatal liver failure in infancy | 2 | MARS CL E G H | 4141 | 615486 | Interstitial lung and liver disease | 615486 | C4225400 | OMIM | 1 | | | 6898 | 156560 |
HP:0001410 | HP:0006554 | Acute hepatic failure | 2 | MARS CL E G H | 4141 | 615486 | Interstitial lung and liver disease | 615486 | C4225400 | OMIM | 1 | | | 6898 | 156560 |
HP:0001410 | HP:0100626 | Chronic hepatic failure | 2 | MARS CL E G H | 4141 | 615486 | Interstitial lung and liver disease | 615486 | C4225400 | OMIM | 1 | | | 6898 | 156560 |
HP:0001410 | HP:0006554 | Acute hepatic failure | 2 | MT-TN CL E G H | 4570 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | | 7493 | 590010 |
HP:0001410 | HP:0006583 | Fatal liver failure in infancy | 2 | MT-TN CL E G H | 4570 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | | 7493 | 590010 |
HP:0001410 | HP:0100626 | Chronic hepatic failure | 2 | MT-TN CL E G H | 4570 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | | 7493 | 590010 |
HP:0001410 | HP:0006583 | Fatal liver failure in infancy | 2 | MT-TS1 CL E G H | 4574 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | | 7497 | 590080 |
HP:0001410 | HP:0006554 | Acute hepatic failure | 2 | MT-TS1 CL E G H | 4574 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | | 7497 | 590080 |
HP:0001410 | HP:0100626 | Chronic hepatic failure | 2 | MT-TS1 CL E G H | 4574 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | | 7497 | 590080 |
HP:0001410 | HP:0006583 | Fatal liver failure in infancy | 2 | MTM1 CL E G H | 4534 | 310400 | Severe X-linked myotubular myopathy | 310400 | C0410203 | OMIM | 1 | | 807 | 7448 | 300415 |
HP:0001410 | HP:0006554 | Acute hepatic failure | 2 | MTM1 CL E G H | 4534 | 310400 | Severe X-linked myotubular myopathy | 310400 | C0410203 | OMIM | 1 | | 807 | 7448 | 300415 |
HP:0001410 | HP:0100626 | Chronic hepatic failure | 2 | MTM1 CL E G H | 4534 | 310400 | Severe X-linked myotubular myopathy | 310400 | C0410203 | OMIM | 1 | | 807 | 7448 | 300415 |
HP:0001410 | HP:0006554 | Acute hepatic failure | 2 | OCLN CL E G H | 100506658 | 251290 | Band-like calcification with simplified gyration and polymicrogyria | 251290 | C3489725 | OMIM | 1 | | 138 | 8104 | 602876 |
HP:0001410 | HP:0006583 | Fatal liver failure in infancy | 2 | OCLN CL E G H | 100506658 | 251290 | Band-like calcification with simplified gyration and polymicrogyria | 251290 | C3489725 | OMIM | 1 | | 138 | 8104 | 602876 |
HP:0001410 | HP:0100626 | Chronic hepatic failure | 2 | OCLN CL E G H | 100506658 | 251290 | Band-like calcification with simplified gyration and polymicrogyria | 251290 | C3489725 | OMIM | 1 | | 138 | 8104 | 602876 |
HP:0001410 | HP:0006554 | Acute hepatic failure | 2 | PET100 CL E G H | 100131801 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 76 | 40038 | 614770 |
HP:0001410 | HP:0006583 | Fatal liver failure in infancy | 2 | PET100 CL E G H | 100131801 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 76 | 40038 | 614770 |
HP:0001410 | HP:0100626 | Chronic hepatic failure | 2 | PET100 CL E G H | 100131801 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 76 | 40038 | 614770 |
HP:0001410 | HP:0006554 | Acute hepatic failure | 2 | PEX10 CL E G H | 5192 | 614870 | Peroxisome biogenesis disorder 6A | 614870 | C3553947 | OMIM | 1 | | 803 | 8851 | 602859 |
HP:0001410 | HP:0006583 | Fatal liver failure in infancy | 2 | PEX10 CL E G H | 5192 | 614870 | Peroxisome biogenesis disorder 6A | 614870 | C3553947 | OMIM | 1 | | 803 | 8851 | 602859 |
HP:0001410 | HP:0100626 | Chronic hepatic failure | 2 | PEX10 CL E G H | 5192 | 614870 | Peroxisome biogenesis disorder 6A | 614870 | C3553947 | OMIM | 1 | | 803 | 8851 | 602859 |
HP:0001410 | HP:0100626 | Chronic hepatic failure | 2 | PEX10 CL E G H | 5192 | 614871 | Peroxisome biogenesis disorder 6B | 614871 | C3553948 | OMIM | 1 | | 803 | 8851 | 602859 |
HP:0001410 | HP:0006554 | Acute hepatic failure | 2 | PEX10 CL E G H | 5192 | 614871 | Peroxisome biogenesis disorder 6B | 614871 | C3553948 | OMIM | 1 | | 803 | 8851 | 602859 |
HP:0001410 | HP:0006583 | Fatal liver failure in infancy | 2 | PEX10 CL E G H | 5192 | 614871 | Peroxisome biogenesis disorder 6B | 614871 | C3553948 | OMIM | 1 | | 803 | 8851 | 602859 |
HP:0001410 | HP:0006583 | Fatal liver failure in infancy | 2 | PEX13 CL E G H | 5194 | 614883 | Peroxisome biogenesis disorder 11A | 614883 | C3554000 | OMIM | 1 | | 497 | 8855 | 601789 |
HP:0001410 | HP:0006554 | Acute hepatic failure | 2 | PEX13 CL E G H | 5194 | 614883 | Peroxisome biogenesis disorder 11A | 614883 | C3554000 | OMIM | 1 | | 497 | 8855 | 601789 |
HP:0001410 | HP:0100626 | Chronic hepatic failure | 2 | PEX13 CL E G H | 5194 | 614883 | Peroxisome biogenesis disorder 11A | 614883 | C3554000 | OMIM | 1 | | 497 | 8855 | 601789 |
HP:0001410 | HP:0006554 | Acute hepatic failure | 2 | PEX16 CL E G H | 9409 | 614877 | Peroxisome biogenesis disorder 8B | 614877 | C3553960 | OMIM | 1 | | 470 | 8857 | 603360 |
HP:0001410 | HP:0006583 | Fatal liver failure in infancy | 2 | PEX16 CL E G H | 9409 | 614877 | Peroxisome biogenesis disorder 8B | 614877 | C3553960 | OMIM | 1 | | 470 | 8857 | 603360 |
HP:0001410 | HP:0100626 | Chronic hepatic failure | 2 | PEX16 CL E G H | 9409 | 614877 | Peroxisome biogenesis disorder 8B | 614877 | C3553960 | OMIM | 1 | | 470 | 8857 | 603360 |
HP:0001410 | HP:0006583 | Fatal liver failure in infancy | 2 | PEX2 CL E G H | 5828 | 614867 | Peroxisome biogenesis disorder 5B | 614867 | C3542026 | OMIM | 1 | | 463 | 9717 | 170993 |
HP:0001410 | HP:0006554 | Acute hepatic failure | 2 | PEX2 CL E G H | 5828 | 614867 | Peroxisome biogenesis disorder 5B | 614867 | C3542026 | OMIM | 1 | | 463 | 9717 | 170993 |
HP:0001410 | HP:0100626 | Chronic hepatic failure | 2 | PEX2 CL E G H | 5828 | 614867 | Peroxisome biogenesis disorder 5B | 614867 | C3542026 | OMIM | 1 | | 463 | 9717 | 170993 |
HP:0001410 | HP:0006554 | Acute hepatic failure | 2 | PEX26 CL E G H | 55670 | 614873 | Peroxisome biogenesis disorder 7B | 614873 | C3553951 | OMIM | 1 | | 522 | 22965 | 608666 |
HP:0001410 | HP:0006583 | Fatal liver failure in infancy | 2 | PEX26 CL E G H | 55670 | 614873 | Peroxisome biogenesis disorder 7B | 614873 | C3553951 | OMIM | 1 | | 522 | 22965 | 608666 |
HP:0001410 | HP:0100626 | Chronic hepatic failure | 2 | PEX26 CL E G H | 55670 | 614873 | Peroxisome biogenesis disorder 7B | 614873 | C3553951 | OMIM | 1 | | 522 | 22965 | 608666 |
HP:0001410 | HP:0006554 | Acute hepatic failure | 2 | PEX6 CL E G H | 5190 | 614863 | Peroxisome biogenesis disorder 4B | 614863 | C3553937 | OMIM | 1 | | 1458 | 8859 | 601498 |
HP:0001410 | HP:0006583 | Fatal liver failure in infancy | 2 | PEX6 CL E G H | 5190 | 614863 | Peroxisome biogenesis disorder 4B | 614863 | C3553937 | OMIM | 1 | | 1458 | 8859 | 601498 |
HP:0001410 | HP:0100626 | Chronic hepatic failure | 2 | PEX6 CL E G H | 5190 | 614863 | Peroxisome biogenesis disorder 4B | 614863 | C3553937 | OMIM | 1 | | 1458 | 8859 | 601498 |
HP:0001410 | HP:0100626 | Chronic hepatic failure | 2 | RMND1 CL E G H | 55005 | 614922 | Combined oxidative phosphorylation deficiency 11 | 614922 | C3554067 | OMIM | 1 | | 262 | 21176 | 614917 |
HP:0001410 | HP:0006554 | Acute hepatic failure | 2 | RMND1 CL E G H | 55005 | 614922 | Combined oxidative phosphorylation deficiency 11 | 614922 | C3554067 | OMIM | 1 | | 262 | 21176 | 614917 |
HP:0001410 | HP:0006583 | Fatal liver failure in infancy | 2 | RMND1 CL E G H | 55005 | 614922 | Combined oxidative phosphorylation deficiency 11 | 614922 | C3554067 | OMIM | 1 | | 262 | 21176 | 614917 |
HP:0001410 | HP:0006583 | Fatal liver failure in infancy | 2 | SCO1 CL E G H | 6341 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 212 | 10603 | 603644 |
HP:0001410 | HP:0006554 | Acute hepatic failure | 2 | SCO1 CL E G H | 6341 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 212 | 10603 | 603644 |
HP:0001410 | HP:0100626 | Chronic hepatic failure | 2 | SCO1 CL E G H | 6341 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 212 | 10603 | 603644 |
HP:0001410 | HP:0100626 | Chronic hepatic failure | 2 | SLC25A15 CL E G H | 10166 | 238970 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 238970 | C0268540 | OMIM | 1 | | 405 | 10985 | 603861 |
HP:0001410 | HP:0006554 | Acute hepatic failure | 2 | SLC25A15 CL E G H | 10166 | 238970 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 238970 | C0268540 | OMIM | 1 | | 405 | 10985 | 603861 |
HP:0001410 | HP:0006583 | Fatal liver failure in infancy | 2 | SLC25A15 CL E G H | 10166 | 238970 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 238970 | C0268540 | OMIM | 1 | | 405 | 10985 | 603861 |
HP:0001410 | HP:0100626 | Chronic hepatic failure | 2 | SLC30A10 CL E G H | 55532 | 613280 | Hypermanganesemia with dystonia 1 | 613280 | | OMIM | 1 | | 275 | 25355 | 611146 |
HP:0001410 | HP:0006554 | Acute hepatic failure | 2 | SLC30A10 CL E G H | 55532 | 613280 | Hypermanganesemia with dystonia 1 | 613280 | | OMIM | 1 | | 275 | 25355 | 611146 |
HP:0001410 | HP:0006583 | Fatal liver failure in infancy | 2 | SLC30A10 CL E G H | 55532 | 613280 | Hypermanganesemia with dystonia 1 | 613280 | | OMIM | 1 | | 275 | 25355 | 611146 |
HP:0001410 | HP:0006554 | Acute hepatic failure | 2 | STT3B CL E G H | 201595 | 615597 | Congenital disorder of glycosylation type 1x | 615597 | C2931007 | OMIM | 1 | | 158 | 30611 | 608605 |
HP:0001410 | HP:0006583 | Fatal liver failure in infancy | 2 | STT3B CL E G H | 201595 | 615597 | Congenital disorder of glycosylation type 1x | 615597 | C2931007 | OMIM | 1 | | 158 | 30611 | 608605 |
HP:0001410 | HP:0100626 | Chronic hepatic failure | 2 | STT3B CL E G H | 201595 | 615597 | Congenital disorder of glycosylation type 1x | 615597 | C2931007 | OMIM | 1 | | 158 | 30611 | 608605 |
HP:0001410 | HP:0100626 | Chronic hepatic failure | 2 | TACO1 CL E G H | 51204 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 117 | 24316 | 612958 |
HP:0001410 | HP:0006554 | Acute hepatic failure | 2 | TACO1 CL E G H | 51204 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 117 | 24316 | 612958 |
HP:0001410 | HP:0006583 | Fatal liver failure in infancy | 2 | TACO1 CL E G H | 51204 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 117 | 24316 | 612958 |
HP:0001410 | HP:0006554 | Acute hepatic failure | 2 | TALDO1 CL E G H | 6888 | 606003 | Deficiency of transaldolase | 606003 | C1291329 | OMIM | 1 | | 210 | 11559 | 602063 |
HP:0001410 | HP:0006583 | Fatal liver failure in infancy | 2 | TALDO1 CL E G H | 6888 | 606003 | Deficiency of transaldolase | 606003 | C1291329 | OMIM | 1 | | 210 | 11559 | 602063 |
HP:0001410 | HP:0100626 | Chronic hepatic failure | 2 | TALDO1 CL E G H | 6888 | 606003 | Deficiency of transaldolase | 606003 | C1291329 | OMIM | 1 | | 210 | 11559 | 602063 |
HP:0001410 | HP:0006554 | Acute hepatic failure | 2 | TMEM199 CL E G H | 147007 | 616829 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp | 616829 | C4225190 | OMIM | 1 | | 82 | 18085 | 616815 |
HP:0001410 | HP:0006583 | Fatal liver failure in infancy | 2 | TMEM199 CL E G H | 147007 | 616829 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp | 616829 | C4225190 | OMIM | 1 | | 82 | 18085 | 616815 |
HP:0001410 | HP:0100626 | Chronic hepatic failure | 2 | TMEM199 CL E G H | 147007 | 616829 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp | 616829 | C4225190 | OMIM | 1 | | 82 | 18085 | 616815 |
HP:0001410 | HP:0006554 | Acute hepatic failure | 2 | TRMT10C CL E G H | 54931 | 616974 | Combined oxidative phosphorylation deficiency 30 | 616974 | C4310773 | OMIM | 1 | | 54 | 26022 | 615423 |
HP:0001410 | HP:0006583 | Fatal liver failure in infancy | 2 | TRMT10C CL E G H | 54931 | 616974 | Combined oxidative phosphorylation deficiency 30 | 616974 | C4310773 | OMIM | 1 | | 54 | 26022 | 615423 |
HP:0001410 | HP:0100626 | Chronic hepatic failure | 2 | TRMT10C CL E G H | 54931 | 616974 | Combined oxidative phosphorylation deficiency 30 | 616974 | C4310773 | OMIM | 1 | | 54 | 26022 | 615423 |
HP:0001410 | HP:0006554 | Acute hepatic failure | 2 | UQCRC2 CL E G H | 7385 | 615160 | Mitochondrial complex III deficiency, nuclear type 5 | 615160 | C3554608 | OMIM | 1 | | 235 | 12586 | 191329 |
HP:0001410 | HP:0006583 | Fatal liver failure in infancy | 2 | UQCRC2 CL E G H | 7385 | 615160 | Mitochondrial complex III deficiency, nuclear type 5 | 615160 | C3554608 | OMIM | 1 | | 235 | 12586 | 191329 |
HP:0001410 | HP:0100626 | Chronic hepatic failure | 2 | UQCRC2 CL E G H | 7385 | 615160 | Mitochondrial complex III deficiency, nuclear type 5 | 615160 | C3554608 | OMIM | 1 | | 235 | 12586 | 191329 |
HP:0001410 | HP:0006554 | Acute hepatic failure | 2 | USP18 CL E G H | 11274 | 617397 | Pseudo-torch syndrome 2 | 617397 | C4479376 | OMIM | 1 | | 165 | 12616 | 607057 |
HP:0001410 | HP:0006583 | Fatal liver failure in infancy | 2 | USP18 CL E G H | 11274 | 617397 | Pseudo-torch syndrome 2 | 617397 | C4479376 | OMIM | 1 | | 165 | 12616 | 607057 |
HP:0001410 | HP:0100626 | Chronic hepatic failure | 2 | USP18 CL E G H | 11274 | 617397 | Pseudo-torch syndrome 2 | 617397 | C4479376 | OMIM | 1 | | 165 | 12616 | 607057 |
HP:0001410 | HP:0004448 | Fulminant hepatic failure | 3 | ADK CL E G H | 132 | 614300 | Hypermethioninemia due to adenosine kinase deficiency | 614300 | C3280381 | OMIM | 1 | | 137 | 257 | 102750 |
HP:0001410 | HP:0004448 | Fulminant hepatic failure | 3 | ALG8 CL E G H | 79053 | 608104 | Congenital disorder of glycosylation type 1H | 608104 | C2931002 | OMIM | 1 | | 286 | 23161 | 608103 |
HP:0001410 | HP:0004448 | Fulminant hepatic failure | 3 | APOPT1 CL E G H | 84334 | 436271 | | | | ORPHA | 1 | | 197 | 20492 | 616003 |
HP:0001410 | HP:0004448 | Fulminant hepatic failure | 3 | APOPT1 CL E G H | 84334 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 197 | 20492 | 616003 |
HP:0001410 | HP:0004448 | Fulminant hepatic failure | 3 | BCS1L CL E G H | 617 | 124000 | Mitochondrial complex III deficiency | 124000 | C1852372 | OMIM | 1 | | 413 | 1020 | 603647 |
HP:0001410 | HP:0004448 | Fulminant hepatic failure | 3 | BLVRA CL E G H | 644 | 614156 | Hyperbiliverdinemia | 614156 | C3279964 | OMIM | 1 | | 57 | 1062 | 109750 |
HP:0001410 | HP:0004448 | Fulminant hepatic failure | 3 | CCDC47 CL E G H | 57003 | 618268 | 618268 | 618268 | | OMIM | 1 | | 45 | 24856 | 0 |
HP:0001410 | HP:0004448 | Fulminant hepatic failure | 3 | COA7 CL E G H | 65260 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 58 | 25716 | 615623 |
HP:0001410 | HP:0004448 | Fulminant hepatic failure | 3 | COG2 CL E G H | 22796 | 435934 | | | | ORPHA | 1 | | 228 | 6546 | 606974 |
HP:0001410 | HP:0004448 | Fulminant hepatic failure | 3 | COG7 CL E G H | 91949 | 608779 | COG7 congenital disorder of glycosylation | 608779 | C2931010 | OMIM | 1 | | 456 | 18622 | 606978 |
HP:0001410 | HP:0004448 | Fulminant hepatic failure | 3 | COX10 CL E G H | 1352 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 356 | 2260 | 602125 |
HP:0001410 | HP:0004448 | Fulminant hepatic failure | 3 | COX14 CL E G H | 84987 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 38 | 28216 | 614478 |
HP:0001410 | HP:0004448 | Fulminant hepatic failure | 3 | COX20 CL E G H | 116228 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 206 | 26970 | 614698 |
HP:0001410 | HP:0004448 | Fulminant hepatic failure | 3 | COX6B1 CL E G H | 1340 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 68 | 2280 | 124089 |
HP:0001410 | HP:0004448 | Fulminant hepatic failure | 3 | COX8A CL E G H | 1351 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 32 | 2294 | 123870 |
HP:0001410 | HP:0004448 | Fulminant hepatic failure | 3 | DDOST CL E G H | 1650 | 614507 | Congenital disorder of glycosylation type Ir | 614507 | C3281084 | OMIM | 1 | | 253 | 2728 | 602202 |
HP:0001410 | HP:0004448 | Fulminant hepatic failure | 3 | FADD CL E G H | 8772 | 306550 | | | | ORPHA | 1 | | 110 | 3573 | 602457 |
HP:0001410 | HP:0004448 | Fulminant hepatic failure | 3 | FADD CL E G H | 8772 | 613759 | Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations | 613759 | C3151062 | OMIM | 1 | | 110 | 3573 | 602457 |
HP:0001410 | HP:0004448 | Fulminant hepatic failure | 3 | FASTKD2 CL E G H | 22868 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 401 | 29160 | 612322 |
HP:0001410 | HP:0004448 | Fulminant hepatic failure | 3 | GALT CL E G H | 2592 | 230400 | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 230400 | C0268151 | OMIM | 1 | | 719 | 4135 | 606999 |
HP:0001410 | HP:0004448 | Fulminant hepatic failure | 3 | LARS2 CL E G H | 23395 | 617021 | Hydrops, lactic acidosis, and sideroblastic anemia | 617021 | C4310761 | OMIM | 1 | | 416 | 17095 | 604544 |
HP:0001410 | HP:0004448 | Fulminant hepatic failure | 3 | LIPT1 CL E G H | 51601 | 616299 | Lipoyltransferase 1 deficiency | 616299 | C4225379 | OMIM | 1 | | 124 | 29569 | 610284 |
HP:0001410 | HP:0004448 | Fulminant hepatic failure | 3 | MARS CL E G H | 4141 | 615486 | Interstitial lung and liver disease | 615486 | C4225400 | OMIM | 1 | | | 6898 | 156560 |
HP:0001410 | HP:0004448 | Fulminant hepatic failure | 3 | MT-TN CL E G H | 4570 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | | 7493 | 590010 |
HP:0001410 | HP:0004448 | Fulminant hepatic failure | 3 | MT-TS1 CL E G H | 4574 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | | 7497 | 590080 |
HP:0001410 | HP:0004448 | Fulminant hepatic failure | 3 | MTM1 CL E G H | 4534 | 310400 | Severe X-linked myotubular myopathy | 310400 | C0410203 | OMIM | 1 | | 807 | 7448 | 300415 |
HP:0001410 | HP:0004448 | Fulminant hepatic failure | 3 | OCLN CL E G H | 100506658 | 251290 | Band-like calcification with simplified gyration and polymicrogyria | 251290 | C3489725 | OMIM | 1 | | 138 | 8104 | 602876 |
HP:0001410 | HP:0004448 | Fulminant hepatic failure | 3 | PET100 CL E G H | 100131801 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 76 | 40038 | 614770 |
HP:0001410 | HP:0004448 | Fulminant hepatic failure | 3 | PEX10 CL E G H | 5192 | 614870 | Peroxisome biogenesis disorder 6A | 614870 | C3553947 | OMIM | 1 | | 803 | 8851 | 602859 |
HP:0001410 | HP:0004448 | Fulminant hepatic failure | 3 | PEX10 CL E G H | 5192 | 614871 | Peroxisome biogenesis disorder 6B | 614871 | C3553948 | OMIM | 1 | | 803 | 8851 | 602859 |
HP:0001410 | HP:0004448 | Fulminant hepatic failure | 3 | PEX13 CL E G H | 5194 | 614883 | Peroxisome biogenesis disorder 11A | 614883 | C3554000 | OMIM | 1 | | 497 | 8855 | 601789 |
HP:0001410 | HP:0004448 | Fulminant hepatic failure | 3 | PEX16 CL E G H | 9409 | 614877 | Peroxisome biogenesis disorder 8B | 614877 | C3553960 | OMIM | 1 | | 470 | 8857 | 603360 |
HP:0001410 | HP:0004448 | Fulminant hepatic failure | 3 | PEX2 CL E G H | 5828 | 614867 | Peroxisome biogenesis disorder 5B | 614867 | C3542026 | OMIM | 1 | | 463 | 9717 | 170993 |
HP:0001410 | HP:0004448 | Fulminant hepatic failure | 3 | PEX26 CL E G H | 55670 | 614873 | Peroxisome biogenesis disorder 7B | 614873 | C3553951 | OMIM | 1 | | 522 | 22965 | 608666 |
HP:0001410 | HP:0004448 | Fulminant hepatic failure | 3 | PEX6 CL E G H | 5190 | 614863 | Peroxisome biogenesis disorder 4B | 614863 | C3553937 | OMIM | 1 | | 1458 | 8859 | 601498 |
HP:0001410 | HP:0004448 | Fulminant hepatic failure | 3 | RMND1 CL E G H | 55005 | 614922 | Combined oxidative phosphorylation deficiency 11 | 614922 | C3554067 | OMIM | 1 | | 262 | 21176 | 614917 |
HP:0001410 | HP:0004448 | Fulminant hepatic failure | 3 | SCO1 CL E G H | 6341 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 212 | 10603 | 603644 |
HP:0001410 | HP:0004448 | Fulminant hepatic failure | 3 | SLC25A15 CL E G H | 10166 | 238970 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 238970 | C0268540 | OMIM | 1 | | 405 | 10985 | 603861 |
HP:0001410 | HP:0004448 | Fulminant hepatic failure | 3 | SLC30A10 CL E G H | 55532 | 613280 | Hypermanganesemia with dystonia 1 | 613280 | | OMIM | 1 | | 275 | 25355 | 611146 |
HP:0001410 | HP:0004448 | Fulminant hepatic failure | 3 | STT3B CL E G H | 201595 | 615597 | Congenital disorder of glycosylation type 1x | 615597 | C2931007 | OMIM | 1 | | 158 | 30611 | 608605 |
HP:0001410 | HP:0004448 | Fulminant hepatic failure | 3 | TACO1 CL E G H | 51204 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 117 | 24316 | 612958 |
HP:0001410 | HP:0004448 | Fulminant hepatic failure | 3 | TALDO1 CL E G H | 6888 | 606003 | Deficiency of transaldolase | 606003 | C1291329 | OMIM | 1 | | 210 | 11559 | 602063 |
HP:0001410 | HP:0004448 | Fulminant hepatic failure | 3 | TMEM199 CL E G H | 147007 | 616829 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp | 616829 | C4225190 | OMIM | 1 | | 82 | 18085 | 616815 |
HP:0001410 | HP:0004448 | Fulminant hepatic failure | 3 | TRMT10C CL E G H | 54931 | 616974 | Combined oxidative phosphorylation deficiency 30 | 616974 | C4310773 | OMIM | 1 | | 54 | 26022 | 615423 |
HP:0001410 | HP:0004448 | Fulminant hepatic failure | 3 | UQCRC2 CL E G H | 7385 | 615160 | Mitochondrial complex III deficiency, nuclear type 5 | 615160 | C3554608 | OMIM | 1 | | 235 | 12586 | 191329 |
HP:0001410 | HP:0004448 | Fulminant hepatic failure | 3 | USP18 CL E G H | 11274 | 617397 | Pseudo-torch syndrome 2 | 617397 | C4479376 | OMIM | 1 | | 165 | 12616 | 607057 |
HP:0001410 | HP:0004787 | Fulminant hepatitis | 4 | ADK CL E G H | 132 | 614300 | Hypermethioninemia due to adenosine kinase deficiency | 614300 | C3280381 | OMIM | 1 | | 137 | 257 | 102750 |
HP:0001410 | HP:0004787 | Fulminant hepatitis | 4 | ALG8 CL E G H | 79053 | 608104 | Congenital disorder of glycosylation type 1H | 608104 | C2931002 | OMIM | 1 | | 286 | 23161 | 608103 |
HP:0001410 | HP:0004787 | Fulminant hepatitis | 4 | APOPT1 CL E G H | 84334 | 436271 | | | | ORPHA | 1 | | 197 | 20492 | 616003 |
HP:0001410 | HP:0004787 | Fulminant hepatitis | 4 | APOPT1 CL E G H | 84334 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 197 | 20492 | 616003 |
HP:0001410 | HP:0004787 | Fulminant hepatitis | 4 | BCS1L CL E G H | 617 | 124000 | Mitochondrial complex III deficiency | 124000 | C1852372 | OMIM | 1 | | 413 | 1020 | 603647 |
HP:0001410 | HP:0004787 | Fulminant hepatitis | 4 | BLVRA CL E G H | 644 | 614156 | Hyperbiliverdinemia | 614156 | C3279964 | OMIM | 1 | | 57 | 1062 | 109750 |
HP:0001410 | HP:0004787 | Fulminant hepatitis | 4 | CCDC47 CL E G H | 57003 | 618268 | 618268 | 618268 | | OMIM | 1 | | 45 | 24856 | 0 |
HP:0001410 | HP:0004787 | Fulminant hepatitis | 4 | COA7 CL E G H | 65260 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 58 | 25716 | 615623 |
HP:0001410 | HP:0004787 | Fulminant hepatitis | 4 | COG2 CL E G H | 22796 | 435934 | | | | ORPHA | 1 | | 228 | 6546 | 606974 |
HP:0001410 | HP:0004787 | Fulminant hepatitis | 4 | COG7 CL E G H | 91949 | 608779 | COG7 congenital disorder of glycosylation | 608779 | C2931010 | OMIM | 1 | | 456 | 18622 | 606978 |
HP:0001410 | HP:0004787 | Fulminant hepatitis | 4 | COX10 CL E G H | 1352 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 356 | 2260 | 602125 |
HP:0001410 | HP:0004787 | Fulminant hepatitis | 4 | COX14 CL E G H | 84987 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 38 | 28216 | 614478 |
HP:0001410 | HP:0004787 | Fulminant hepatitis | 4 | COX20 CL E G H | 116228 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 206 | 26970 | 614698 |
HP:0001410 | HP:0004787 | Fulminant hepatitis | 4 | COX6B1 CL E G H | 1340 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 68 | 2280 | 124089 |
HP:0001410 | HP:0004787 | Fulminant hepatitis | 4 | COX8A CL E G H | 1351 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 32 | 2294 | 123870 |
HP:0001410 | HP:0004787 | Fulminant hepatitis | 4 | DDOST CL E G H | 1650 | 614507 | Congenital disorder of glycosylation type Ir | 614507 | C3281084 | OMIM | 1 | | 253 | 2728 | 602202 |
HP:0001410 | HP:0004787 | Fulminant hepatitis | 4 | FADD CL E G H | 8772 | 306550 | | | | ORPHA | 1 | | 110 | 3573 | 602457 |
HP:0001410 | HP:0004787 | Fulminant hepatitis | 4 | FADD CL E G H | 8772 | 613759 | Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations | 613759 | C3151062 | OMIM | 1 | | 110 | 3573 | 602457 |
HP:0001410 | HP:0004787 | Fulminant hepatitis | 4 | FASTKD2 CL E G H | 22868 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 401 | 29160 | 612322 |
HP:0001410 | HP:0004787 | Fulminant hepatitis | 4 | GALT CL E G H | 2592 | 230400 | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 230400 | C0268151 | OMIM | 1 | | 719 | 4135 | 606999 |
HP:0001410 | HP:0004787 | Fulminant hepatitis | 4 | LARS2 CL E G H | 23395 | 617021 | Hydrops, lactic acidosis, and sideroblastic anemia | 617021 | C4310761 | OMIM | 1 | | 416 | 17095 | 604544 |
HP:0001410 | HP:0004787 | Fulminant hepatitis | 4 | LIPT1 CL E G H | 51601 | 616299 | Lipoyltransferase 1 deficiency | 616299 | C4225379 | OMIM | 1 | | 124 | 29569 | 610284 |
HP:0001410 | HP:0004787 | Fulminant hepatitis | 4 | MARS CL E G H | 4141 | 615486 | Interstitial lung and liver disease | 615486 | C4225400 | OMIM | 1 | | | 6898 | 156560 |
HP:0001410 | HP:0004787 | Fulminant hepatitis | 4 | MT-TN CL E G H | 4570 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | | 7493 | 590010 |
HP:0001410 | HP:0004787 | Fulminant hepatitis | 4 | MT-TS1 CL E G H | 4574 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | | 7497 | 590080 |
HP:0001410 | HP:0004787 | Fulminant hepatitis | 4 | MTM1 CL E G H | 4534 | 310400 | Severe X-linked myotubular myopathy | 310400 | C0410203 | OMIM | 1 | | 807 | 7448 | 300415 |
HP:0001410 | HP:0004787 | Fulminant hepatitis | 4 | OCLN CL E G H | 100506658 | 251290 | Band-like calcification with simplified gyration and polymicrogyria | 251290 | C3489725 | OMIM | 1 | | 138 | 8104 | 602876 |
HP:0001410 | HP:0004787 | Fulminant hepatitis | 4 | PET100 CL E G H | 100131801 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 76 | 40038 | 614770 |
HP:0001410 | HP:0004787 | Fulminant hepatitis | 4 | PEX10 CL E G H | 5192 | 614870 | Peroxisome biogenesis disorder 6A | 614870 | C3553947 | OMIM | 1 | | 803 | 8851 | 602859 |
HP:0001410 | HP:0004787 | Fulminant hepatitis | 4 | PEX10 CL E G H | 5192 | 614871 | Peroxisome biogenesis disorder 6B | 614871 | C3553948 | OMIM | 1 | | 803 | 8851 | 602859 |
HP:0001410 | HP:0004787 | Fulminant hepatitis | 4 | PEX13 CL E G H | 5194 | 614883 | Peroxisome biogenesis disorder 11A | 614883 | C3554000 | OMIM | 1 | | 497 | 8855 | 601789 |
HP:0001410 | HP:0004787 | Fulminant hepatitis | 4 | PEX16 CL E G H | 9409 | 614877 | Peroxisome biogenesis disorder 8B | 614877 | C3553960 | OMIM | 1 | | 470 | 8857 | 603360 |
HP:0001410 | HP:0004787 | Fulminant hepatitis | 4 | PEX2 CL E G H | 5828 | 614867 | Peroxisome biogenesis disorder 5B | 614867 | C3542026 | OMIM | 1 | | 463 | 9717 | 170993 |
HP:0001410 | HP:0004787 | Fulminant hepatitis | 4 | PEX26 CL E G H | 55670 | 614873 | Peroxisome biogenesis disorder 7B | 614873 | C3553951 | OMIM | 1 | | 522 | 22965 | 608666 |
HP:0001410 | HP:0004787 | Fulminant hepatitis | 4 | PEX6 CL E G H | 5190 | 614863 | Peroxisome biogenesis disorder 4B | 614863 | C3553937 | OMIM | 1 | | 1458 | 8859 | 601498 |
HP:0001410 | HP:0004787 | Fulminant hepatitis | 4 | RMND1 CL E G H | 55005 | 614922 | Combined oxidative phosphorylation deficiency 11 | 614922 | C3554067 | OMIM | 1 | | 262 | 21176 | 614917 |
HP:0001410 | HP:0004787 | Fulminant hepatitis | 4 | SCO1 CL E G H | 6341 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 212 | 10603 | 603644 |
HP:0001410 | HP:0004787 | Fulminant hepatitis | 4 | SLC25A15 CL E G H | 10166 | 238970 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 238970 | C0268540 | OMIM | 1 | | 405 | 10985 | 603861 |
HP:0001410 | HP:0004787 | Fulminant hepatitis | 4 | SLC30A10 CL E G H | 55532 | 613280 | Hypermanganesemia with dystonia 1 | 613280 | | OMIM | 1 | | 275 | 25355 | 611146 |
HP:0001410 | HP:0004787 | Fulminant hepatitis | 4 | STT3B CL E G H | 201595 | 615597 | Congenital disorder of glycosylation type 1x | 615597 | C2931007 | OMIM | 1 | | 158 | 30611 | 608605 |
HP:0001410 | HP:0004787 | Fulminant hepatitis | 4 | TACO1 CL E G H | 51204 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 117 | 24316 | 612958 |
HP:0001410 | HP:0004787 | Fulminant hepatitis | 4 | TALDO1 CL E G H | 6888 | 606003 | Deficiency of transaldolase | 606003 | C1291329 | OMIM | 1 | | 210 | 11559 | 602063 |
HP:0001410 | HP:0004787 | Fulminant hepatitis | 4 | TMEM199 CL E G H | 147007 | 616829 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp | 616829 | C4225190 | OMIM | 1 | | 82 | 18085 | 616815 |
HP:0001410 | HP:0004787 | Fulminant hepatitis | 4 | TRMT10C CL E G H | 54931 | 616974 | Combined oxidative phosphorylation deficiency 30 | 616974 | C4310773 | OMIM | 1 | | 54 | 26022 | 615423 |
HP:0001410 | HP:0004787 | Fulminant hepatitis | 4 | UQCRC2 CL E G H | 7385 | 615160 | Mitochondrial complex III deficiency, nuclear type 5 | 615160 | C3554608 | OMIM | 1 | | 235 | 12586 | 191329 |
HP:0001410 | HP:0004787 | Fulminant hepatitis | 4 | USP18 CL E G H | 11274 | 617397 | Pseudo-torch syndrome 2 | 617397 | C4479376 | OMIM | 1 | | 165 | 12616 | 607057 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0001410 | HP:0001410 | Decreased liver function | 0 | DLD CL E G H | 1738 | 246900 | Maple syrup urine disease, type 3 | 246900 | CN043137 | OMIM | 0 | | 520 | 2898 | 238331 |
HP:0001410 | HP:0001410 | Decreased liver function | 0 | FECH CL E G H | 2235 | 79278 | | | | ORPHA | 0 | | 356 | 3647 | 612386 |
HP:0001410 | HP:0001410 | Decreased liver function | 0 | GANAB CL E G H | 23193 | 600666 | Polycystic kidney disease 3 | 600666 | C1418603 | OMIM | 0 | | 277 | 4138 | 104160 |
HP:0001410 | HP:0001410 | Decreased liver function | 0 | IARS CL E G H | 3376 | 617093 | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | 617093 | C4310720 | OMIM | 0 | | | 5330 | 600709 |
HP:0001410 | HP:0001410 | Decreased liver function | 0 | RNU12 CL E G H | 267010 | 512260 | | | | ORPHA | 0 | | 17 | 19380 | 0 |
HP:0001410 | HP:0001399 | Hepatic failure | 1 | DLD CL E G H | 1738 | 246900 | Maple syrup urine disease, type 3 | 246900 | CN043137 | OMIM | 0 | | 520 | 2898 | 238331 |
HP:0001410 | HP:0001399 | Hepatic failure | 1 | FECH CL E G H | 2235 | 79278 | | | | ORPHA | 0 | | 356 | 3647 | 612386 |
HP:0001410 | HP:0001399 | Hepatic failure | 1 | GANAB CL E G H | 23193 | 600666 | Polycystic kidney disease 3 | 600666 | C1418603 | OMIM | 0 | | 277 | 4138 | 104160 |
HP:0001410 | HP:0001399 | Hepatic failure | 1 | IARS CL E G H | 3376 | 617093 | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | 617093 | C4310720 | OMIM | 0 | | | 5330 | 600709 |
HP:0001410 | HP:0001399 | Hepatic failure | 1 | RNU12 CL E G H | 267010 | 512260 | | | | ORPHA | 0 | | 17 | 19380 | 0 |
HP:0001410 | HP:0006554 | Acute hepatic failure | 2 | DLD CL E G H | 1738 | 246900 | Maple syrup urine disease, type 3 | 246900 | CN043137 | OMIM | 0 | | 520 | 2898 | 238331 |
HP:0001410 | HP:0006583 | Fatal liver failure in infancy | 2 | DLD CL E G H | 1738 | 246900 | Maple syrup urine disease, type 3 | 246900 | CN043137 | OMIM | 0 | | 520 | 2898 | 238331 |
HP:0001410 | HP:0100626 | Chronic hepatic failure | 2 | DLD CL E G H | 1738 | 246900 | Maple syrup urine disease, type 3 | 246900 | CN043137 | OMIM | 0 | | 520 | 2898 | 238331 |
HP:0001410 | HP:0006554 | Acute hepatic failure | 2 | FECH CL E G H | 2235 | 79278 | | | | ORPHA | 0 | | 356 | 3647 | 612386 |
HP:0001410 | HP:0006583 | Fatal liver failure in infancy | 2 | FECH CL E G H | 2235 | 79278 | | | | ORPHA | 0 | | 356 | 3647 | 612386 |
HP:0001410 | HP:0100626 | Chronic hepatic failure | 2 | FECH CL E G H | 2235 | 79278 | | | | ORPHA | 0 | | 356 | 3647 | 612386 |
HP:0001410 | HP:0100626 | Chronic hepatic failure | 2 | GANAB CL E G H | 23193 | 600666 | Polycystic kidney disease 3 | 600666 | C1418603 | OMIM | 0 | | 277 | 4138 | 104160 |
HP:0001410 | HP:0006554 | Acute hepatic failure | 2 | GANAB CL E G H | 23193 | 600666 | Polycystic kidney disease 3 | 600666 | C1418603 | OMIM | 0 | | 277 | 4138 | 104160 |
HP:0001410 | HP:0006583 | Fatal liver failure in infancy | 2 | GANAB CL E G H | 23193 | 600666 | Polycystic kidney disease 3 | 600666 | C1418603 | OMIM | 0 | | 277 | 4138 | 104160 |
HP:0001410 | HP:0100626 | Chronic hepatic failure | 2 | IARS CL E G H | 3376 | 617093 | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | 617093 | C4310720 | OMIM | 0 | | | 5330 | 600709 |
HP:0001410 | HP:0006554 | Acute hepatic failure | 2 | IARS CL E G H | 3376 | 617093 | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | 617093 | C4310720 | OMIM | 0 | | | 5330 | 600709 |
HP:0001410 | HP:0006583 | Fatal liver failure in infancy | 2 | IARS CL E G H | 3376 | 617093 | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | 617093 | C4310720 | OMIM | 0 | | | 5330 | 600709 |
HP:0001410 | HP:0006583 | Fatal liver failure in infancy | 2 | RNU12 CL E G H | 267010 | 512260 | | | | ORPHA | 0 | | 17 | 19380 | 0 |
HP:0001410 | HP:0006554 | Acute hepatic failure | 2 | RNU12 CL E G H | 267010 | 512260 | | | | ORPHA | 0 | | 17 | 19380 | 0 |
HP:0001410 | HP:0100626 | Chronic hepatic failure | 2 | RNU12 CL E G H | 267010 | 512260 | | | | ORPHA | 0 | | 17 | 19380 | 0 |
HP:0001410 | HP:0004448 | Fulminant hepatic failure | 3 | DLD CL E G H | 1738 | 246900 | Maple syrup urine disease, type 3 | 246900 | CN043137 | OMIM | 0 | | 520 | 2898 | 238331 |
HP:0001410 | HP:0004448 | Fulminant hepatic failure | 3 | FECH CL E G H | 2235 | 79278 | | | | ORPHA | 0 | | 356 | 3647 | 612386 |
HP:0001410 | HP:0004448 | Fulminant hepatic failure | 3 | GANAB CL E G H | 23193 | 600666 | Polycystic kidney disease 3 | 600666 | C1418603 | OMIM | 0 | | 277 | 4138 | 104160 |
HP:0001410 | HP:0004448 | Fulminant hepatic failure | 3 | IARS CL E G H | 3376 | 617093 | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | 617093 | C4310720 | OMIM | 0 | | | 5330 | 600709 |
HP:0001410 | HP:0004448 | Fulminant hepatic failure | 3 | RNU12 CL E G H | 267010 | 512260 | | | | ORPHA | 0 | | 17 | 19380 | 0 |
HP:0001410 | HP:0004787 | Fulminant hepatitis | 4 | DLD CL E G H | 1738 | 246900 | Maple syrup urine disease, type 3 | 246900 | CN043137 | OMIM | 0 | | 520 | 2898 | 238331 |
HP:0001410 | HP:0004787 | Fulminant hepatitis | 4 | FECH CL E G H | 2235 | 79278 | | | | ORPHA | 0 | | 356 | 3647 | 612386 |
HP:0001410 | HP:0004787 | Fulminant hepatitis | 4 | GANAB CL E G H | 23193 | 600666 | Polycystic kidney disease 3 | 600666 | C1418603 | OMIM | 0 | | 277 | 4138 | 104160 |
HP:0001410 | HP:0004787 | Fulminant hepatitis | 4 | IARS CL E G H | 3376 | 617093 | Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | 617093 | C4310720 | OMIM | 0 | | | 5330 | 600709 |
HP:0001410 | HP:0004787 | Fulminant hepatitis | 4 | RNU12 CL E G H | 267010 | 512260 | | | | ORPHA | 0 | | 17 | 19380 | 0 |