hpo_id
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| hpo_name
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| ncbi_gene_id
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| gene_symbol
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| disease_id
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|---|---|---|---|---|
HP:0033997 | Perinuclear cardiomyocyte vacuolization | 6123 | RPL3L | OMIM:619371 |
HP:0033995 | Microvillus inclusions | 6809 | STX3 | OMIM:619445 |
HP:0033996 | Microvillar PAS-positive secretory granules | 6809 | STX3 | OMIM:619445 |
HP:0033993 | Viral encephalitis | 7098 | TLR3 | OMIM:613002 |
HP:0033993 | Viral encephalitis | 10525 | HYOU1 | OMIM:233600 |
HP:0033993 | Viral encephalitis | 6772 | STAT1 | OMIM:613796 |
HP:0033993 | Viral encephalitis | 6772 | STAT1 | OMIM:614892 |
HP:0033993 | Viral encephalitis | 3661 | IRF3 | OMIM:616532 |
HP:0033993 | Viral encephalitis | 148022 | TICAM1 | OMIM:614850 |
HP:0033993 | Viral encephalitis | 81622 | UNC93B1 | OMIM:610551 |
HP:0033993 | Viral encephalitis | 29110 | TBK1 | OMIM:617900 |
HP:0033993 | Viral encephalitis | 3071 | NCKAP1L | OMIM:618982 |
HP:0033993 | Viral encephalitis | 7187 | TRAF3 | OMIM:614849 |
HP:0033993 | Viral encephalitis | 677814 | SNORA31 | OMIM:619396 |
HP:0033993 | Viral encephalitis | 939 | CD27 | OMIM:615122 |
HP:0033993 | Viral encephalitis | 51163 | DBR1 | OMIM:619441 |
HP:0033993 | Viral encephalitis | 959 | CD40LG | OMIM:308230 |
HP:0033994 | Dependency on parenteral nutrition | 6809 | STX3 | OMIM:619445 |
HP:0033994 | Dependency on parenteral nutrition | 54914 | FOCAD | OMIM:619991 |
HP:0033992 | Chronotropic incompetence | 2783 | GNB2 | OMIM:619464 |
HP:0033986 | Tortuous lymphatic vessels | 9620 | CELSR1 | OMIM:619319 |
HP:0033984 | Increased urinary 8-oxo-7,8-dihydroguanosine level | 1147 | CHUK | OMIM:613630 |
HP:0033985 | Elongated femoral neck | 26175 | LYSET | OMIM:619345 |
HP:0033982 | Celiac artery dissection | 1289 | COL5A1 | OMIM:619329 |
HP:0033983 | Decreased circulating apolipoprotein C-II concentration | 344 | APOC2 | OMIM:207750 |
HP:0033980 | Paroxysmal tonic upgaze | 57167 | SALL4 | OMIM:147750 |
HP:0033980 | Paroxysmal tonic upgaze | 51091 | SEPSECS | OMIM:613811 |
HP:0033981 | Vertebral artery tortuosity | 4087 | SMAD2 | OMIM:619656 |
HP:0033981 | Vertebral artery tortuosity | 1289 | COL5A1 | OMIM:619329 |
HP:0033977 | Talar aplasia | 2019 | EN1 | OMIM:619218 |
HP:0033978 | Reduced beta-hexosaminidase activity | 3074 | HEXB | ORPHA:309162 |
HP:0033978 | Reduced beta-hexosaminidase activity | 3074 | HEXB | ORPHA:309155 |
HP:0033978 | Reduced beta-hexosaminidase activity | 3074 | HEXB | ORPHA:309169 |
HP:0033978 | Reduced beta-hexosaminidase activity | 3074 | HEXB | OMIM:268800 |
HP:0030998 | Cerebrospinal fluid rhinorrhoea | 3514 | IGKC | ORPHA:183675 |
HP:0030998 | Cerebrospinal fluid rhinorrhoea | 3501 | IGHG2 | ORPHA:183675 |
HP:0030997 | Atretic vas deferens | 6928 | HNF1B | OMIM:137920 |
HP:0030996 | Megaduodenum | 5885 | RAD21 | OMIM:611376 |
HP:0030996 | Megaduodenum | 4629 | MYH11 | OMIM:619350 |
HP:0030996 | Megaduodenum | 72 | ACTG2 | OMIM:155310 |
HP:0030992 | Abnormal pancreatic duct morphology | 11330 | CTRC | ORPHA:103918 |
HP:0030992 | Abnormal pancreatic duct morphology | 6690 | SPINK1 | ORPHA:103918 |
HP:0030992 | Abnormal pancreatic duct morphology | 2317 | FLNB | ORPHA:1190 |
HP:0030991 | Sclerosing cholangitis | 9076 | CLDN1 | OMIM:607626 |
HP:0030991 | Sclerosing cholangitis | 81704 | DOCK8 | OMIM:243700 |
HP:0030991 | Sclerosing cholangitis | 5994 | RFXAP | ORPHA:572 |
HP:0030991 | Sclerosing cholangitis | 4261 | CIITA | ORPHA:572 |
HP:0030991 | Sclerosing cholangitis | 5993 | RFX5 | ORPHA:572 |
HP:0030991 | Sclerosing cholangitis | 8625 | RFXANK | ORPHA:572 |
HP:0030991 | Sclerosing cholangitis | 5966 | REL | OMIM:619652 |
HP:0030991 | Sclerosing cholangitis | 5244 | ABCB4 | ORPHA:69663 |
HP:0030991 | Sclerosing cholangitis | 51473 | DCDC2 | OMIM:617394 |
HP:0030991 | Sclerosing cholangitis | 959 | CD40LG | OMIM:308230 |
HP:0030991 | Sclerosing cholangitis | 113220 | KIF12 | OMIM:619662 |
HP:0001321 | Cerebellar hypoplasia | 10682 | EBP | ORPHA:401973 |
HP:0001321 | Cerebellar hypoplasia | 10682 | EBP | OMIM:300960 |
HP:0001321 | Cerebellar hypoplasia | 10682 | EBP | OMIM:302960 |
HP:0001321 | Cerebellar hypoplasia | 3265 | HRAS | ORPHA:2612 |
HP:0001321 | Cerebellar hypoplasia | 3845 | KRAS | ORPHA:2612 |
HP:0001321 | Cerebellar hypoplasia | 4893 | NRAS | ORPHA:2612 |
HP:0001321 | Cerebellar hypoplasia | 4893 | NRAS | OMIM:249400 |
HP:0001321 | Cerebellar hypoplasia | 23556 | PIGN | ORPHA:2059 |
HP:0001321 | Cerebellar hypoplasia | 7545 | ZIC1 | OMIM:616602 |
HP:0001321 | Cerebellar hypoplasia | 7545 | ZIC1 | OMIM:618736 |
HP:0001321 | Cerebellar hypoplasia | 84942 | WDR73 | OMIM:251300 |
HP:0001321 | Cerebellar hypoplasia | 57465 | TBC1D24 | OMIM:220500 |
HP:0001321 | Cerebellar hypoplasia | 57465 | TBC1D24 | ORPHA:79500 |
HP:0001321 | Cerebellar hypoplasia | 55636 | CHD7 | ORPHA:138 |
HP:0001321 | Cerebellar hypoplasia | 9723 | SEMA3E | ORPHA:138 |
HP:0001321 | Cerebellar hypoplasia | 79068 | FTO | OMIM:612938 |
HP:0001321 | Cerebellar hypoplasia | 57492 | ARID1B | OMIM:135900 |
HP:0001321 | Cerebellar hypoplasia | 57492 | ARID1B | ORPHA:1465 |
HP:0001321 | Cerebellar hypoplasia | 3899 | AFF3 | OMIM:619297 |
HP:0001321 | Cerebellar hypoplasia | 25885 | POLR1A | OMIM:616462 |
HP:0001321 | Cerebellar hypoplasia | 6597 | SMARCA4 | ORPHA:1465 |
HP:0001321 | Cerebellar hypoplasia | 6597 | SMARCA4 | OMIM:614609 |
HP:0001321 | Cerebellar hypoplasia | 6659 | SOX4 | ORPHA:1465 |
HP:0001321 | Cerebellar hypoplasia | 5977 | DPF2 | ORPHA:1465 |
HP:0001321 | Cerebellar hypoplasia | 6601 | SMARCC2 | ORPHA:1465 |
HP:0001321 | Cerebellar hypoplasia | 6602 | SMARCD1 | ORPHA:1465 |
HP:0001321 | Cerebellar hypoplasia | 196528 | ARID2 | ORPHA:1465 |
HP:0001321 | Cerebellar hypoplasia | 6664 | SOX11 | ORPHA:1465 |
HP:0001321 | Cerebellar hypoplasia | 27315 | PGAP2 | OMIM:614207 |
HP:0001321 | Cerebellar hypoplasia | 157570 | ESCO2 | ORPHA:2319 |
HP:0001321 | Cerebellar hypoplasia | 1717 | DHCR7 | OMIM:270400 |
HP:0001321 | Cerebellar hypoplasia | 57096 | RPGRIP1 | ORPHA:564 |
HP:0001321 | Cerebellar hypoplasia | 79770 | TXNDC15 | ORPHA:564 |
HP:0001321 | Cerebellar hypoplasia | 27031 | NPHP3 | OMIM:267010 |
HP:0001321 | Cerebellar hypoplasia | 27031 | NPHP3 | OMIM:208540 |
HP:0001321 | Cerebellar hypoplasia | 27031 | NPHP3 | ORPHA:3032 |
HP:0001321 | Cerebellar hypoplasia | 171023 | ASXL1 | ORPHA:97297 |
HP:0001321 | Cerebellar hypoplasia | 171023 | ASXL1 | OMIM:605039 |
HP:0001321 | Cerebellar hypoplasia | 9184 | BUB3 | ORPHA:1052 |
HP:0001321 | Cerebellar hypoplasia | 699 | BUB1 | ORPHA:1052 |
HP:0001321 | Cerebellar hypoplasia | 9702 | CEP57 | ORPHA:1052 |
HP:0001321 | Cerebellar hypoplasia | 9319 | TRIP13 | ORPHA:1052 |
HP:0001321 | Cerebellar hypoplasia | 84188 | FAR1 | ORPHA:438178 |
HP:0001321 | Cerebellar hypoplasia | 84188 | FAR1 | OMIM:616154 |
HP:0001321 | Cerebellar hypoplasia | 55605 | KIF21A | ORPHA:994 |
HP:0001321 | Cerebellar hypoplasia | 4927 | NUP88 | ORPHA:994 |