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:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | ABCC6 CL E G H | 368 | 264800 | Pseudoxanthoma elasticum | 264800 | C0033847 | OMIM | 1 | | 1666 | 57 | 603234 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | ABCC6 CL E G H | 368 | 177850 | Pseudoxanthoma elasticum, forme fruste | 177850 | C1867450 | OMIM | 1 | | 1666 | 57 | 603234 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | AGGF1 CL E G H | 55109 | 90308 | | | | ORPHA | 1 | | 48 | 24684 | 608464 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | ALDOB CL E G H | 229 | 229600 | Hereditary fructosuria | 229600 | C0016751 | OMIM | 1 | | 438 | 417 | 612724 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | B2M CL E G H | 567 | 314652 | | | | ORPHA | 1 | | 60 | 914 | 109700 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | C4A CL E G H | 720 | 117 | | | | ORPHA | 1 | | 53 | 1323 | 120810 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | CCR1 CL E G H | 1230 | 117 | | | | ORPHA | 1 | | 31 | 1602 | 601159 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | CYP7B1 CL E G H | 9420 | 79302 | | | | ORPHA | 1 | | 415 | 2652 | 603711 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | EPCAM CL E G H | 4072 | 144 | | | | ORPHA | 1 | | 744 | 11529 | 185535 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | ERAP1 CL E G H | 51752 | 117 | | | | ORPHA | 1 | | 175 | 18173 | 606832 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | F2 CL E G H | 2147 | 613679 | Prothrombin deficiency, congenital | 613679 | C0020640 | OMIM | 1 | | 165 | 3535 | 176930 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | F7 CL E G H | 2155 | 327 | | | | ORPHA | 1 | | 343 | 3544 | 613878 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | F9 CL E G H | 2158 | 306900 | Hereditary factor IX deficiency disease | 306900 | C0008533 | OMIM | 1 | | 646 | 3551 | 300746 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | FAH CL E G H | 2184 | 276700 | Tyrosinemia type I | 276700 | C0268490 | OMIM | 1 | | 601 | 3579 | 613871 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | FAN1 CL E G H | 22909 | 144 | | | | ORPHA | 1 | | 482 | 29170 | 613534 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | FAS CL E G H | 355 | 117 | | | | ORPHA | 1 | | 387 | 11920 | 134637 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | FGA CL E G H | 2243 | 101041 | | | | ORPHA | 1 | | 208 | 3661 | 134820 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | FGA CL E G H | 2243 | 98881 | | | | ORPHA | 1 | | 208 | 3661 | 134820 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | FGB CL E G H | 2244 | 101041 | | | | ORPHA | 1 | | 194 | 3662 | 134830 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | FGB CL E G H | 2244 | 98881 | | | | ORPHA | 1 | | 194 | 3662 | 134830 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | FGG CL E G H | 2266 | 101041 | | | | ORPHA | 1 | | 143 | 3694 | 134850 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | FGG CL E G H | 2266 | 98881 | | | | ORPHA | 1 | | 143 | 3694 | 134850 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | GFI1B CL E G H | 8328 | 187900 | Platelet-type bleeding disorder 17 | 187900 | C1861194 | OMIM | 1 | | 123 | 4238 | 604383 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | GP1BA CL E G H | 2811 | 231200 | Bernard Soulier syndrome | 231200 | C0005129 | OMIM | 1 | | 180 | 4439 | 606672 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | GP1BB CL E G H | 2812 | 231200 | Bernard Soulier syndrome | 231200 | C0005129 | OMIM | 1 | | 479 | 4440 | 138720 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | GP9 CL E G H | 2815 | 231200 | Bernard Soulier syndrome | 231200 | C0005129 | OMIM | 1 | | 113 | 4444 | 173515 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | HLA-B CL E G H | 3106 | 117 | | | | ORPHA | 1 | | 29 | 4932 | 142830 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | HSD3B7 CL E G H | 80270 | 79301 | | | | ORPHA | 1 | | 139 | 18324 | 607764 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | IL10 CL E G H | 3586 | 117 | | | | ORPHA | 1 | | 123 | 5962 | 124092 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | IL12A CL E G H | 3592 | 117 | | | | ORPHA | 1 | | 34 | 5969 | 161560 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | IL12A-AS1 CL E G H | 101928376 | 117 | | | | ORPHA | 1 | | 18 | 49094 | 0 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | IL23R CL E G H | 149233 | 117 | | | | ORPHA | 1 | | 241 | 19100 | 607562 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | ITGA2B CL E G H | 3674 | 273800 | Glanzmann thrombasthenia | 273800 | C0040015 | OMIM | 1 | | 540 | 6138 | 607759 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | ITGB3 CL E G H | 3690 | 273800 | Glanzmann thrombasthenia | 273800 | C0040015 | OMIM | 1 | | 469 | 6156 | 173470 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | JAK2 CL E G H | 3717 | 263300 | Polycythemia vera | 263300 | C0032463 | OMIM | 1 | | 412 | 6192 | 147796 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 2488 | 6342 | 164920 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | KLRC4 CL E G H | 8302 | 117 | | | | ORPHA | 1 | | 44 | 6377 | 602893 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | KRAS CL E G H | 3845 | 144 | | | | ORPHA | 1 | | 480 | 6407 | 190070 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | LBR CL E G H | 3930 | 613471 | Reynolds syndrome | 613471 | C0748397 | OMIM | 1 | | 357 | 6518 | 600024 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | MEFV CL E G H | 4210 | 117 | | | | ORPHA | 1 | | 1083 | 6998 | 608107 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | MLH1 CL E G H | 4292 | 144 | | | | ORPHA | 1 | | 5122 | 7127 | 120436 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | MLH3 CL E G H | 27030 | 144 | | | | ORPHA | 1 | | 2210 | 7128 | 604395 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | MSH2 CL E G H | 4436 | 144 | | | | ORPHA | 1 | | 6856 | 7325 | 609309 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | MSH6 CL E G H | 2956 | 144 | | | | ORPHA | 1 | | 8438 | 7329 | 600678 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | MVK CL E G H | 4598 | 343 | | | | ORPHA | 1 | | 570 | 7530 | 251170 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 2832 | 8803 | 173490 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | PIK3CA CL E G H | 5290 | 144 | | | | ORPHA | 1 | | 1159 | 8975 | 171834 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | PLOD1 CL E G H | 5351 | 225400 | Ehlers-Danlos syndrome, hydroxylysine-deficient | 225400 | C0268342 | OMIM | 1 | | 931 | 9081 | 153454 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | PMS1 CL E G H | 5378 | 144 | | | | ORPHA | 1 | | 125 | 9121 | 600258 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | PMS2 CL E G H | 5395 | 144 | | | | ORPHA | 1 | | 4719 | 9122 | 600259 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | RHBDF2 CL E G H | 79651 | 2198 | | | | ORPHA | 1 | | 209 | 20788 | 614404 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 2503 | 10680 | 600857 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 1249 | 10681 | 185470 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | SDHB CL E G H | 6390 | 97286 | | | | ORPHA | 1 | | 1249 | 10681 | 185470 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 798 | 10682 | 602413 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | SDHC CL E G H | 6391 | 97286 | | | | ORPHA | 1 | | 798 | 10682 | 602413 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | SDHD CL E G H | 6392 | 97286 | | | | ORPHA | 1 | | 686 | 10683 | 602690 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | STAT4 CL E G H | 6775 | 117 | | | | ORPHA | 1 | | 307 | 11365 | 600558 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | STK11 CL E G H | 6794 | 2869 | Hypertrophic osteoarthropathy, primary or idiopathic | | | ORPHA | 1 | | 2389 | 11389 | 602216 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | STN1 CL E G H | 79991 | 617341 | Cerebroretinal microangiopathy with calcifications and cysts 2 | 617341 | C4479220 | OMIM | 1 | | 225 | 26200 | 613128 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | TGFBR2 CL E G H | 7048 | 144 | | | | ORPHA | 1 | | 948 | 11773 | 190182 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | TLR4 CL E G H | 7099 | 117 | | | | ORPHA | 1 | | 83 | 11850 | 603030 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | UBAC2 CL E G H | 337867 | 117 | | | | ORPHA | 1 | | 126 | 20486 | 0 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | VWF CL E G H | 7450 | 193400 | von Willebrand disease type 1 | 193400 | C1264039 | OMIM | 1 | | 1385 | 12726 | 613160 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | ABCC6 CL E G H | 368 | 264800 | Pseudoxanthoma elasticum | 264800 | C0033847 | OMIM | 1 | | 1666 | 57 | 603234 |
HP:0002239 | HP:0002249 | Melena | 1 | ABCC6 CL E G H | 368 | 264800 | Pseudoxanthoma elasticum | 264800 | C0033847 | OMIM | 1 | | 1666 | 57 | 603234 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | ABCC6 CL E G H | 368 | 264800 | Pseudoxanthoma elasticum | 264800 | C0033847 | OMIM | 1 | | 1666 | 57 | 603234 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | ABCC6 CL E G H | 368 | 264800 | Pseudoxanthoma elasticum | 264800 | C0033847 | OMIM | 1 | | 1666 | 57 | 603234 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | ABCC6 CL E G H | 368 | 264800 | Pseudoxanthoma elasticum | 264800 | C0033847 | OMIM | 1 | | 1666 | 57 | 603234 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | ABCC6 CL E G H | 368 | 177850 | Pseudoxanthoma elasticum, forme fruste | 177850 | C1867450 | OMIM | 1 | | 1666 | 57 | 603234 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | ABCC6 CL E G H | 368 | 177850 | Pseudoxanthoma elasticum, forme fruste | 177850 | C1867450 | OMIM | 1 | | 1666 | 57 | 603234 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | ABCC6 CL E G H | 368 | 177850 | Pseudoxanthoma elasticum, forme fruste | 177850 | C1867450 | OMIM | 1 | | 1666 | 57 | 603234 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | ABCC6 CL E G H | 368 | 177850 | Pseudoxanthoma elasticum, forme fruste | 177850 | C1867450 | OMIM | 1 | | 1666 | 57 | 603234 |
HP:0002239 | HP:0002249 | Melena | 1 | ABCC6 CL E G H | 368 | 177850 | Pseudoxanthoma elasticum, forme fruste | 177850 | C1867450 | OMIM | 1 | | 1666 | 57 | 603234 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | AGGF1 CL E G H | 55109 | 90308 | | | | ORPHA | 1 | | 48 | 24684 | 608464 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | AGGF1 CL E G H | 55109 | 90308 | | | | ORPHA | 1 | | 48 | 24684 | 608464 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | AGGF1 CL E G H | 55109 | 90308 | | | | ORPHA | 1 | | 48 | 24684 | 608464 |
HP:0002239 | HP:0002249 | Melena | 1 | AGGF1 CL E G H | 55109 | 90308 | | | | ORPHA | 1 | | 48 | 24684 | 608464 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | AGGF1 CL E G H | 55109 | 90308 | | | | ORPHA | 1 | | 48 | 24684 | 608464 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | ALDOB CL E G H | 229 | 229600 | Hereditary fructosuria | 229600 | C0016751 | OMIM | 1 | | 438 | 417 | 612724 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | ALDOB CL E G H | 229 | 229600 | Hereditary fructosuria | 229600 | C0016751 | OMIM | 1 | | 438 | 417 | 612724 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | ALDOB CL E G H | 229 | 229600 | Hereditary fructosuria | 229600 | C0016751 | OMIM | 1 | | 438 | 417 | 612724 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | ALDOB CL E G H | 229 | 229600 | Hereditary fructosuria | 229600 | C0016751 | OMIM | 1 | | 438 | 417 | 612724 |
HP:0002239 | HP:0002249 | Melena | 1 | ALDOB CL E G H | 229 | 229600 | Hereditary fructosuria | 229600 | C0016751 | OMIM | 1 | | 438 | 417 | 612724 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | B2M CL E G H | 567 | 314652 | | | | ORPHA | 1 | | 60 | 914 | 109700 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | B2M CL E G H | 567 | 314652 | | | | ORPHA | 1 | | 60 | 914 | 109700 |
HP:0002239 | HP:0002249 | Melena | 1 | B2M CL E G H | 567 | 314652 | | | | ORPHA | 1 | | 60 | 914 | 109700 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | B2M CL E G H | 567 | 314652 | | | | ORPHA | 1 | | 60 | 914 | 109700 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | B2M CL E G H | 567 | 314652 | | | | ORPHA | 1 | | 60 | 914 | 109700 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | C4A CL E G H | 720 | 117 | | | | ORPHA | 1 | | 53 | 1323 | 120810 |
HP:0002239 | HP:0002249 | Melena | 1 | C4A CL E G H | 720 | 117 | | | | ORPHA | 1 | | 53 | 1323 | 120810 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | C4A CL E G H | 720 | 117 | | | | ORPHA | 1 | | 53 | 1323 | 120810 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | C4A CL E G H | 720 | 117 | | | | ORPHA | 1 | | 53 | 1323 | 120810 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | C4A CL E G H | 720 | 117 | | | | ORPHA | 1 | | 53 | 1323 | 120810 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | CCR1 CL E G H | 1230 | 117 | | | | ORPHA | 1 | | 31 | 1602 | 601159 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | CCR1 CL E G H | 1230 | 117 | | | | ORPHA | 1 | | 31 | 1602 | 601159 |
HP:0002239 | HP:0002249 | Melena | 1 | CCR1 CL E G H | 1230 | 117 | | | | ORPHA | 1 | | 31 | 1602 | 601159 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | CCR1 CL E G H | 1230 | 117 | | | | ORPHA | 1 | | 31 | 1602 | 601159 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | CCR1 CL E G H | 1230 | 117 | | | | ORPHA | 1 | | 31 | 1602 | 601159 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | CYP7B1 CL E G H | 9420 | 79302 | | | | ORPHA | 1 | | 415 | 2652 | 603711 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | CYP7B1 CL E G H | 9420 | 79302 | | | | ORPHA | 1 | | 415 | 2652 | 603711 |
HP:0002239 | HP:0002249 | Melena | 1 | CYP7B1 CL E G H | 9420 | 79302 | | | | ORPHA | 1 | | 415 | 2652 | 603711 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | CYP7B1 CL E G H | 9420 | 79302 | | | | ORPHA | 1 | | 415 | 2652 | 603711 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | CYP7B1 CL E G H | 9420 | 79302 | | | | ORPHA | 1 | | 415 | 2652 | 603711 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | EPCAM CL E G H | 4072 | 144 | | | | ORPHA | 1 | | 744 | 11529 | 185535 |
HP:0002239 | HP:0002249 | Melena | 1 | EPCAM CL E G H | 4072 | 144 | | | | ORPHA | 1 | | 744 | 11529 | 185535 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | EPCAM CL E G H | 4072 | 144 | | | | ORPHA | 1 | | 744 | 11529 | 185535 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | EPCAM CL E G H | 4072 | 144 | | | | ORPHA | 1 | | 744 | 11529 | 185535 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | EPCAM CL E G H | 4072 | 144 | | | | ORPHA | 1 | | 744 | 11529 | 185535 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | ERAP1 CL E G H | 51752 | 117 | | | | ORPHA | 1 | | 175 | 18173 | 606832 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | ERAP1 CL E G H | 51752 | 117 | | | | ORPHA | 1 | | 175 | 18173 | 606832 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | ERAP1 CL E G H | 51752 | 117 | | | | ORPHA | 1 | | 175 | 18173 | 606832 |
HP:0002239 | HP:0002249 | Melena | 1 | ERAP1 CL E G H | 51752 | 117 | | | | ORPHA | 1 | | 175 | 18173 | 606832 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | ERAP1 CL E G H | 51752 | 117 | | | | ORPHA | 1 | | 175 | 18173 | 606832 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | F2 CL E G H | 2147 | 613679 | Prothrombin deficiency, congenital | 613679 | C0020640 | OMIM | 1 | | 165 | 3535 | 176930 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | F2 CL E G H | 2147 | 613679 | Prothrombin deficiency, congenital | 613679 | C0020640 | OMIM | 1 | | 165 | 3535 | 176930 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | F2 CL E G H | 2147 | 613679 | Prothrombin deficiency, congenital | 613679 | C0020640 | OMIM | 1 | | 165 | 3535 | 176930 |
HP:0002239 | HP:0002249 | Melena | 1 | F2 CL E G H | 2147 | 613679 | Prothrombin deficiency, congenital | 613679 | C0020640 | OMIM | 1 | | 165 | 3535 | 176930 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | F2 CL E G H | 2147 | 613679 | Prothrombin deficiency, congenital | 613679 | C0020640 | OMIM | 1 | | 165 | 3535 | 176930 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | F7 CL E G H | 2155 | 327 | | | | ORPHA | 1 | | 343 | 3544 | 613878 |
HP:0002239 | HP:0002249 | Melena | 1 | F7 CL E G H | 2155 | 327 | | | | ORPHA | 1 | | 343 | 3544 | 613878 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | F7 CL E G H | 2155 | 327 | | | | ORPHA | 1 | | 343 | 3544 | 613878 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | F7 CL E G H | 2155 | 327 | | | | ORPHA | 1 | | 343 | 3544 | 613878 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | F7 CL E G H | 2155 | 327 | | | | ORPHA | 1 | | 343 | 3544 | 613878 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | F9 CL E G H | 2158 | 306900 | Hereditary factor IX deficiency disease | 306900 | C0008533 | OMIM | 1 | | 646 | 3551 | 300746 |
HP:0002239 | HP:0002249 | Melena | 1 | F9 CL E G H | 2158 | 306900 | Hereditary factor IX deficiency disease | 306900 | C0008533 | OMIM | 1 | | 646 | 3551 | 300746 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | F9 CL E G H | 2158 | 306900 | Hereditary factor IX deficiency disease | 306900 | C0008533 | OMIM | 1 | | 646 | 3551 | 300746 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | F9 CL E G H | 2158 | 306900 | Hereditary factor IX deficiency disease | 306900 | C0008533 | OMIM | 1 | | 646 | 3551 | 300746 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | F9 CL E G H | 2158 | 306900 | Hereditary factor IX deficiency disease | 306900 | C0008533 | OMIM | 1 | | 646 | 3551 | 300746 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | FAH CL E G H | 2184 | 276700 | Tyrosinemia type I | 276700 | C0268490 | OMIM | 1 | | 601 | 3579 | 613871 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | FAH CL E G H | 2184 | 276700 | Tyrosinemia type I | 276700 | C0268490 | OMIM | 1 | | 601 | 3579 | 613871 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | FAH CL E G H | 2184 | 276700 | Tyrosinemia type I | 276700 | C0268490 | OMIM | 1 | | 601 | 3579 | 613871 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | FAH CL E G H | 2184 | 276700 | Tyrosinemia type I | 276700 | C0268490 | OMIM | 1 | | 601 | 3579 | 613871 |
HP:0002239 | HP:0002249 | Melena | 1 | FAH CL E G H | 2184 | 276700 | Tyrosinemia type I | 276700 | C0268490 | OMIM | 1 | | 601 | 3579 | 613871 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | FAN1 CL E G H | 22909 | 144 | | | | ORPHA | 1 | | 482 | 29170 | 613534 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | FAN1 CL E G H | 22909 | 144 | | | | ORPHA | 1 | | 482 | 29170 | 613534 |
HP:0002239 | HP:0002249 | Melena | 1 | FAN1 CL E G H | 22909 | 144 | | | | ORPHA | 1 | | 482 | 29170 | 613534 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | FAN1 CL E G H | 22909 | 144 | | | | ORPHA | 1 | | 482 | 29170 | 613534 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | FAN1 CL E G H | 22909 | 144 | | | | ORPHA | 1 | | 482 | 29170 | 613534 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | FAS CL E G H | 355 | 117 | | | | ORPHA | 1 | | 387 | 11920 | 134637 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | FAS CL E G H | 355 | 117 | | | | ORPHA | 1 | | 387 | 11920 | 134637 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | FAS CL E G H | 355 | 117 | | | | ORPHA | 1 | | 387 | 11920 | 134637 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | FAS CL E G H | 355 | 117 | | | | ORPHA | 1 | | 387 | 11920 | 134637 |
HP:0002239 | HP:0002249 | Melena | 1 | FAS CL E G H | 355 | 117 | | | | ORPHA | 1 | | 387 | 11920 | 134637 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | FGA CL E G H | 2243 | 98881 | | | | ORPHA | 1 | | 208 | 3661 | 134820 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | FGA CL E G H | 2243 | 101041 | | | | ORPHA | 1 | | 208 | 3661 | 134820 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | FGA CL E G H | 2243 | 98881 | | | | ORPHA | 1 | | 208 | 3661 | 134820 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | FGA CL E G H | 2243 | 101041 | | | | ORPHA | 1 | | 208 | 3661 | 134820 |
HP:0002239 | HP:0002249 | Melena | 1 | FGA CL E G H | 2243 | 101041 | | | | ORPHA | 1 | | 208 | 3661 | 134820 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | FGA CL E G H | 2243 | 98881 | | | | ORPHA | 1 | | 208 | 3661 | 134820 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | FGA CL E G H | 2243 | 101041 | | | | ORPHA | 1 | | 208 | 3661 | 134820 |
HP:0002239 | HP:0002249 | Melena | 1 | FGA CL E G H | 2243 | 98881 | | | | ORPHA | 1 | | 208 | 3661 | 134820 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | FGA CL E G H | 2243 | 101041 | | | | ORPHA | 1 | | 208 | 3661 | 134820 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | FGA CL E G H | 2243 | 98881 | | | | ORPHA | 1 | | 208 | 3661 | 134820 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | FGB CL E G H | 2244 | 98881 | | | | ORPHA | 1 | | 194 | 3662 | 134830 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | FGB CL E G H | 2244 | 101041 | | | | ORPHA | 1 | | 194 | 3662 | 134830 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | FGB CL E G H | 2244 | 98881 | | | | ORPHA | 1 | | 194 | 3662 | 134830 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | FGB CL E G H | 2244 | 101041 | | | | ORPHA | 1 | | 194 | 3662 | 134830 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | FGB CL E G H | 2244 | 98881 | | | | ORPHA | 1 | | 194 | 3662 | 134830 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | FGB CL E G H | 2244 | 101041 | | | | ORPHA | 1 | | 194 | 3662 | 134830 |
HP:0002239 | HP:0002249 | Melena | 1 | FGB CL E G H | 2244 | 101041 | | | | ORPHA | 1 | | 194 | 3662 | 134830 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | FGB CL E G H | 2244 | 98881 | | | | ORPHA | 1 | | 194 | 3662 | 134830 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | FGB CL E G H | 2244 | 101041 | | | | ORPHA | 1 | | 194 | 3662 | 134830 |
HP:0002239 | HP:0002249 | Melena | 1 | FGB CL E G H | 2244 | 98881 | | | | ORPHA | 1 | | 194 | 3662 | 134830 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | FGG CL E G H | 2266 | 98881 | | | | ORPHA | 1 | | 143 | 3694 | 134850 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | FGG CL E G H | 2266 | 101041 | | | | ORPHA | 1 | | 143 | 3694 | 134850 |
HP:0002239 | HP:0002249 | Melena | 1 | FGG CL E G H | 2266 | 98881 | | | | ORPHA | 1 | | 143 | 3694 | 134850 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | FGG CL E G H | 2266 | 101041 | | | | ORPHA | 1 | | 143 | 3694 | 134850 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | FGG CL E G H | 2266 | 98881 | | | | ORPHA | 1 | | 143 | 3694 | 134850 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | FGG CL E G H | 2266 | 98881 | | | | ORPHA | 1 | | 143 | 3694 | 134850 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | FGG CL E G H | 2266 | 101041 | | | | ORPHA | 1 | | 143 | 3694 | 134850 |
HP:0002239 | HP:0002249 | Melena | 1 | FGG CL E G H | 2266 | 101041 | | | | ORPHA | 1 | | 143 | 3694 | 134850 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | FGG CL E G H | 2266 | 98881 | | | | ORPHA | 1 | | 143 | 3694 | 134850 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | FGG CL E G H | 2266 | 101041 | | | | ORPHA | 1 | | 143 | 3694 | 134850 |
HP:0002239 | HP:0002249 | Melena | 1 | GFI1B CL E G H | 8328 | 187900 | Platelet-type bleeding disorder 17 | 187900 | C1861194 | OMIM | 1 | | 123 | 4238 | 604383 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | GFI1B CL E G H | 8328 | 187900 | Platelet-type bleeding disorder 17 | 187900 | C1861194 | OMIM | 1 | | 123 | 4238 | 604383 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | GFI1B CL E G H | 8328 | 187900 | Platelet-type bleeding disorder 17 | 187900 | C1861194 | OMIM | 1 | | 123 | 4238 | 604383 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | GFI1B CL E G H | 8328 | 187900 | Platelet-type bleeding disorder 17 | 187900 | C1861194 | OMIM | 1 | | 123 | 4238 | 604383 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | GFI1B CL E G H | 8328 | 187900 | Platelet-type bleeding disorder 17 | 187900 | C1861194 | OMIM | 1 | | 123 | 4238 | 604383 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | GP1BA CL E G H | 2811 | 231200 | Bernard Soulier syndrome | 231200 | C0005129 | OMIM | 1 | | 180 | 4439 | 606672 |
HP:0002239 | HP:0002249 | Melena | 1 | GP1BA CL E G H | 2811 | 231200 | Bernard Soulier syndrome | 231200 | C0005129 | OMIM | 1 | | 180 | 4439 | 606672 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | GP1BA CL E G H | 2811 | 231200 | Bernard Soulier syndrome | 231200 | C0005129 | OMIM | 1 | | 180 | 4439 | 606672 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | GP1BA CL E G H | 2811 | 231200 | Bernard Soulier syndrome | 231200 | C0005129 | OMIM | 1 | | 180 | 4439 | 606672 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | GP1BA CL E G H | 2811 | 231200 | Bernard Soulier syndrome | 231200 | C0005129 | OMIM | 1 | | 180 | 4439 | 606672 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | GP1BB CL E G H | 2812 | 231200 | Bernard Soulier syndrome | 231200 | C0005129 | OMIM | 1 | | 479 | 4440 | 138720 |
HP:0002239 | HP:0002249 | Melena | 1 | GP1BB CL E G H | 2812 | 231200 | Bernard Soulier syndrome | 231200 | C0005129 | OMIM | 1 | | 479 | 4440 | 138720 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | GP1BB CL E G H | 2812 | 231200 | Bernard Soulier syndrome | 231200 | C0005129 | OMIM | 1 | | 479 | 4440 | 138720 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | GP1BB CL E G H | 2812 | 231200 | Bernard Soulier syndrome | 231200 | C0005129 | OMIM | 1 | | 479 | 4440 | 138720 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | GP1BB CL E G H | 2812 | 231200 | Bernard Soulier syndrome | 231200 | C0005129 | OMIM | 1 | | 479 | 4440 | 138720 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | GP9 CL E G H | 2815 | 231200 | Bernard Soulier syndrome | 231200 | C0005129 | OMIM | 1 | | 113 | 4444 | 173515 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | GP9 CL E G H | 2815 | 231200 | Bernard Soulier syndrome | 231200 | C0005129 | OMIM | 1 | | 113 | 4444 | 173515 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | GP9 CL E G H | 2815 | 231200 | Bernard Soulier syndrome | 231200 | C0005129 | OMIM | 1 | | 113 | 4444 | 173515 |
HP:0002239 | HP:0002249 | Melena | 1 | GP9 CL E G H | 2815 | 231200 | Bernard Soulier syndrome | 231200 | C0005129 | OMIM | 1 | | 113 | 4444 | 173515 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | GP9 CL E G H | 2815 | 231200 | Bernard Soulier syndrome | 231200 | C0005129 | OMIM | 1 | | 113 | 4444 | 173515 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | HLA-B CL E G H | 3106 | 117 | | | | ORPHA | 1 | | 29 | 4932 | 142830 |
HP:0002239 | HP:0002249 | Melena | 1 | HLA-B CL E G H | 3106 | 117 | | | | ORPHA | 1 | | 29 | 4932 | 142830 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | HLA-B CL E G H | 3106 | 117 | | | | ORPHA | 1 | | 29 | 4932 | 142830 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | HLA-B CL E G H | 3106 | 117 | | | | ORPHA | 1 | | 29 | 4932 | 142830 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | HLA-B CL E G H | 3106 | 117 | | | | ORPHA | 1 | | 29 | 4932 | 142830 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | HSD3B7 CL E G H | 80270 | 79301 | | | | ORPHA | 1 | | 139 | 18324 | 607764 |
HP:0002239 | HP:0002249 | Melena | 1 | HSD3B7 CL E G H | 80270 | 79301 | | | | ORPHA | 1 | | 139 | 18324 | 607764 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | HSD3B7 CL E G H | 80270 | 79301 | | | | ORPHA | 1 | | 139 | 18324 | 607764 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | HSD3B7 CL E G H | 80270 | 79301 | | | | ORPHA | 1 | | 139 | 18324 | 607764 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | HSD3B7 CL E G H | 80270 | 79301 | | | | ORPHA | 1 | | 139 | 18324 | 607764 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | IL10 CL E G H | 3586 | 117 | | | | ORPHA | 1 | | 123 | 5962 | 124092 |
HP:0002239 | HP:0002249 | Melena | 1 | IL10 CL E G H | 3586 | 117 | | | | ORPHA | 1 | | 123 | 5962 | 124092 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | IL10 CL E G H | 3586 | 117 | | | | ORPHA | 1 | | 123 | 5962 | 124092 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | IL10 CL E G H | 3586 | 117 | | | | ORPHA | 1 | | 123 | 5962 | 124092 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | IL10 CL E G H | 3586 | 117 | | | | ORPHA | 1 | | 123 | 5962 | 124092 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | IL12A CL E G H | 3592 | 117 | | | | ORPHA | 1 | | 34 | 5969 | 161560 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | IL12A CL E G H | 3592 | 117 | | | | ORPHA | 1 | | 34 | 5969 | 161560 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | IL12A CL E G H | 3592 | 117 | | | | ORPHA | 1 | | 34 | 5969 | 161560 |
HP:0002239 | HP:0002249 | Melena | 1 | IL12A CL E G H | 3592 | 117 | | | | ORPHA | 1 | | 34 | 5969 | 161560 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | IL12A CL E G H | 3592 | 117 | | | | ORPHA | 1 | | 34 | 5969 | 161560 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | IL12A-AS1 CL E G H | 101928376 | 117 | | | | ORPHA | 1 | | 18 | 49094 | 0 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | IL12A-AS1 CL E G H | 101928376 | 117 | | | | ORPHA | 1 | | 18 | 49094 | 0 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | IL12A-AS1 CL E G H | 101928376 | 117 | | | | ORPHA | 1 | | 18 | 49094 | 0 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | IL12A-AS1 CL E G H | 101928376 | 117 | | | | ORPHA | 1 | | 18 | 49094 | 0 |
HP:0002239 | HP:0002249 | Melena | 1 | IL12A-AS1 CL E G H | 101928376 | 117 | | | | ORPHA | 1 | | 18 | 49094 | 0 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | IL23R CL E G H | 149233 | 117 | | | | ORPHA | 1 | | 241 | 19100 | 607562 |
HP:0002239 | HP:0002249 | Melena | 1 | IL23R CL E G H | 149233 | 117 | | | | ORPHA | 1 | | 241 | 19100 | 607562 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | IL23R CL E G H | 149233 | 117 | | | | ORPHA | 1 | | 241 | 19100 | 607562 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | IL23R CL E G H | 149233 | 117 | | | | ORPHA | 1 | | 241 | 19100 | 607562 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | IL23R CL E G H | 149233 | 117 | | | | ORPHA | 1 | | 241 | 19100 | 607562 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | ITGA2B CL E G H | 3674 | 273800 | Glanzmann thrombasthenia | 273800 | C0040015 | OMIM | 1 | | 540 | 6138 | 607759 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | ITGA2B CL E G H | 3674 | 273800 | Glanzmann thrombasthenia | 273800 | C0040015 | OMIM | 1 | | 540 | 6138 | 607759 |
HP:0002239 | HP:0002249 | Melena | 1 | ITGA2B CL E G H | 3674 | 273800 | Glanzmann thrombasthenia | 273800 | C0040015 | OMIM | 1 | | 540 | 6138 | 607759 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | ITGA2B CL E G H | 3674 | 273800 | Glanzmann thrombasthenia | 273800 | C0040015 | OMIM | 1 | | 540 | 6138 | 607759 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | ITGA2B CL E G H | 3674 | 273800 | Glanzmann thrombasthenia | 273800 | C0040015 | OMIM | 1 | | 540 | 6138 | 607759 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | ITGB3 CL E G H | 3690 | 273800 | Glanzmann thrombasthenia | 273800 | C0040015 | OMIM | 1 | | 469 | 6156 | 173470 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | ITGB3 CL E G H | 3690 | 273800 | Glanzmann thrombasthenia | 273800 | C0040015 | OMIM | 1 | | 469 | 6156 | 173470 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | ITGB3 CL E G H | 3690 | 273800 | Glanzmann thrombasthenia | 273800 | C0040015 | OMIM | 1 | | 469 | 6156 | 173470 |
HP:0002239 | HP:0002249 | Melena | 1 | ITGB3 CL E G H | 3690 | 273800 | Glanzmann thrombasthenia | 273800 | C0040015 | OMIM | 1 | | 469 | 6156 | 173470 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | ITGB3 CL E G H | 3690 | 273800 | Glanzmann thrombasthenia | 273800 | C0040015 | OMIM | 1 | | 469 | 6156 | 173470 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | JAK2 CL E G H | 3717 | 263300 | Polycythemia vera | 263300 | C0032463 | OMIM | 1 | | 412 | 6192 | 147796 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | JAK2 CL E G H | 3717 | 263300 | Polycythemia vera | 263300 | C0032463 | OMIM | 1 | | 412 | 6192 | 147796 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | JAK2 CL E G H | 3717 | 263300 | Polycythemia vera | 263300 | C0032463 | OMIM | 1 | | 412 | 6192 | 147796 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | JAK2 CL E G H | 3717 | 263300 | Polycythemia vera | 263300 | C0032463 | OMIM | 1 | | 412 | 6192 | 147796 |
HP:0002239 | HP:0002249 | Melena | 1 | JAK2 CL E G H | 3717 | 263300 | Polycythemia vera | 263300 | C0032463 | OMIM | 1 | | 412 | 6192 | 147796 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 2488 | 6342 | 164920 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 2488 | 6342 | 164920 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 2488 | 6342 | 164920 |
HP:0002239 | HP:0002249 | Melena | 1 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 2488 | 6342 | 164920 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 2488 | 6342 | 164920 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | KLRC4 CL E G H | 8302 | 117 | | | | ORPHA | 1 | | 44 | 6377 | 602893 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | KLRC4 CL E G H | 8302 | 117 | | | | ORPHA | 1 | | 44 | 6377 | 602893 |
HP:0002239 | HP:0002249 | Melena | 1 | KLRC4 CL E G H | 8302 | 117 | | | | ORPHA | 1 | | 44 | 6377 | 602893 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | KLRC4 CL E G H | 8302 | 117 | | | | ORPHA | 1 | | 44 | 6377 | 602893 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | KLRC4 CL E G H | 8302 | 117 | | | | ORPHA | 1 | | 44 | 6377 | 602893 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | KRAS CL E G H | 3845 | 144 | | | | ORPHA | 1 | | 480 | 6407 | 190070 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | KRAS CL E G H | 3845 | 144 | | | | ORPHA | 1 | | 480 | 6407 | 190070 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | KRAS CL E G H | 3845 | 144 | | | | ORPHA | 1 | | 480 | 6407 | 190070 |
HP:0002239 | HP:0002249 | Melena | 1 | KRAS CL E G H | 3845 | 144 | | | | ORPHA | 1 | | 480 | 6407 | 190070 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | KRAS CL E G H | 3845 | 144 | | | | ORPHA | 1 | | 480 | 6407 | 190070 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | LBR CL E G H | 3930 | 613471 | Reynolds syndrome | 613471 | C0748397 | OMIM | 1 | | 357 | 6518 | 600024 |
HP:0002239 | HP:0002249 | Melena | 1 | LBR CL E G H | 3930 | 613471 | Reynolds syndrome | 613471 | C0748397 | OMIM | 1 | | 357 | 6518 | 600024 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | LBR CL E G H | 3930 | 613471 | Reynolds syndrome | 613471 | C0748397 | OMIM | 1 | | 357 | 6518 | 600024 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | LBR CL E G H | 3930 | 613471 | Reynolds syndrome | 613471 | C0748397 | OMIM | 1 | | 357 | 6518 | 600024 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | LBR CL E G H | 3930 | 613471 | Reynolds syndrome | 613471 | C0748397 | OMIM | 1 | | 357 | 6518 | 600024 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | MEFV CL E G H | 4210 | 117 | | | | ORPHA | 1 | | 1083 | 6998 | 608107 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | MEFV CL E G H | 4210 | 117 | | | | ORPHA | 1 | | 1083 | 6998 | 608107 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | MEFV CL E G H | 4210 | 117 | | | | ORPHA | 1 | | 1083 | 6998 | 608107 |
HP:0002239 | HP:0002249 | Melena | 1 | MEFV CL E G H | 4210 | 117 | | | | ORPHA | 1 | | 1083 | 6998 | 608107 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | MEFV CL E G H | 4210 | 117 | | | | ORPHA | 1 | | 1083 | 6998 | 608107 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | MLH1 CL E G H | 4292 | 144 | | | | ORPHA | 1 | | 5122 | 7127 | 120436 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | MLH1 CL E G H | 4292 | 144 | | | | ORPHA | 1 | | 5122 | 7127 | 120436 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | MLH1 CL E G H | 4292 | 144 | | | | ORPHA | 1 | | 5122 | 7127 | 120436 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | MLH1 CL E G H | 4292 | 144 | | | | ORPHA | 1 | | 5122 | 7127 | 120436 |
HP:0002239 | HP:0002249 | Melena | 1 | MLH1 CL E G H | 4292 | 144 | | | | ORPHA | 1 | | 5122 | 7127 | 120436 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | MLH3 CL E G H | 27030 | 144 | | | | ORPHA | 1 | | 2210 | 7128 | 604395 |
HP:0002239 | HP:0002249 | Melena | 1 | MLH3 CL E G H | 27030 | 144 | | | | ORPHA | 1 | | 2210 | 7128 | 604395 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | MLH3 CL E G H | 27030 | 144 | | | | ORPHA | 1 | | 2210 | 7128 | 604395 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | MLH3 CL E G H | 27030 | 144 | | | | ORPHA | 1 | | 2210 | 7128 | 604395 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | MLH3 CL E G H | 27030 | 144 | | | | ORPHA | 1 | | 2210 | 7128 | 604395 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | MSH2 CL E G H | 4436 | 144 | | | | ORPHA | 1 | | 6856 | 7325 | 609309 |
HP:0002239 | HP:0002249 | Melena | 1 | MSH2 CL E G H | 4436 | 144 | | | | ORPHA | 1 | | 6856 | 7325 | 609309 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | MSH2 CL E G H | 4436 | 144 | | | | ORPHA | 1 | | 6856 | 7325 | 609309 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | MSH2 CL E G H | 4436 | 144 | | | | ORPHA | 1 | | 6856 | 7325 | 609309 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | MSH2 CL E G H | 4436 | 144 | | | | ORPHA | 1 | | 6856 | 7325 | 609309 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | MSH6 CL E G H | 2956 | 144 | | | | ORPHA | 1 | | 8438 | 7329 | 600678 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | MSH6 CL E G H | 2956 | 144 | | | | ORPHA | 1 | | 8438 | 7329 | 600678 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | MSH6 CL E G H | 2956 | 144 | | | | ORPHA | 1 | | 8438 | 7329 | 600678 |
HP:0002239 | HP:0002249 | Melena | 1 | MSH6 CL E G H | 2956 | 144 | | | | ORPHA | 1 | | 8438 | 7329 | 600678 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | MSH6 CL E G H | 2956 | 144 | | | | ORPHA | 1 | | 8438 | 7329 | 600678 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | MVK CL E G H | 4598 | 343 | | | | ORPHA | 1 | | 570 | 7530 | 251170 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | MVK CL E G H | 4598 | 343 | | | | ORPHA | 1 | | 570 | 7530 | 251170 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | MVK CL E G H | 4598 | 343 | | | | ORPHA | 1 | | 570 | 7530 | 251170 |
HP:0002239 | HP:0002249 | Melena | 1 | MVK CL E G H | 4598 | 343 | | | | ORPHA | 1 | | 570 | 7530 | 251170 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | MVK CL E G H | 4598 | 343 | | | | ORPHA | 1 | | 570 | 7530 | 251170 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 2832 | 8803 | 173490 |
HP:0002239 | HP:0002249 | Melena | 1 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 2832 | 8803 | 173490 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 2832 | 8803 | 173490 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 2832 | 8803 | 173490 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 2832 | 8803 | 173490 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | PIK3CA CL E G H | 5290 | 144 | | | | ORPHA | 1 | | 1159 | 8975 | 171834 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | PIK3CA CL E G H | 5290 | 144 | | | | ORPHA | 1 | | 1159 | 8975 | 171834 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | PIK3CA CL E G H | 5290 | 144 | | | | ORPHA | 1 | | 1159 | 8975 | 171834 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | PIK3CA CL E G H | 5290 | 144 | | | | ORPHA | 1 | | 1159 | 8975 | 171834 |
HP:0002239 | HP:0002249 | Melena | 1 | PIK3CA CL E G H | 5290 | 144 | | | | ORPHA | 1 | | 1159 | 8975 | 171834 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | PLOD1 CL E G H | 5351 | 225400 | Ehlers-Danlos syndrome, hydroxylysine-deficient | 225400 | C0268342 | OMIM | 1 | | 931 | 9081 | 153454 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | PLOD1 CL E G H | 5351 | 225400 | Ehlers-Danlos syndrome, hydroxylysine-deficient | 225400 | C0268342 | OMIM | 1 | | 931 | 9081 | 153454 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | PLOD1 CL E G H | 5351 | 225400 | Ehlers-Danlos syndrome, hydroxylysine-deficient | 225400 | C0268342 | OMIM | 1 | | 931 | 9081 | 153454 |
HP:0002239 | HP:0002249 | Melena | 1 | PLOD1 CL E G H | 5351 | 225400 | Ehlers-Danlos syndrome, hydroxylysine-deficient | 225400 | C0268342 | OMIM | 1 | | 931 | 9081 | 153454 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | PLOD1 CL E G H | 5351 | 225400 | Ehlers-Danlos syndrome, hydroxylysine-deficient | 225400 | C0268342 | OMIM | 1 | | 931 | 9081 | 153454 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | PMS1 CL E G H | 5378 | 144 | | | | ORPHA | 1 | | 125 | 9121 | 600258 |
HP:0002239 | HP:0002249 | Melena | 1 | PMS1 CL E G H | 5378 | 144 | | | | ORPHA | 1 | | 125 | 9121 | 600258 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | PMS1 CL E G H | 5378 | 144 | | | | ORPHA | 1 | | 125 | 9121 | 600258 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | PMS1 CL E G H | 5378 | 144 | | | | ORPHA | 1 | | 125 | 9121 | 600258 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | PMS1 CL E G H | 5378 | 144 | | | | ORPHA | 1 | | 125 | 9121 | 600258 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | PMS2 CL E G H | 5395 | 144 | | | | ORPHA | 1 | | 4719 | 9122 | 600259 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | PMS2 CL E G H | 5395 | 144 | | | | ORPHA | 1 | | 4719 | 9122 | 600259 |
HP:0002239 | HP:0002249 | Melena | 1 | PMS2 CL E G H | 5395 | 144 | | | | ORPHA | 1 | | 4719 | 9122 | 600259 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | PMS2 CL E G H | 5395 | 144 | | | | ORPHA | 1 | | 4719 | 9122 | 600259 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | PMS2 CL E G H | 5395 | 144 | | | | ORPHA | 1 | | 4719 | 9122 | 600259 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | RHBDF2 CL E G H | 79651 | 2198 | | | | ORPHA | 1 | | 209 | 20788 | 614404 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | RHBDF2 CL E G H | 79651 | 2198 | | | | ORPHA | 1 | | 209 | 20788 | 614404 |
HP:0002239 | HP:0002249 | Melena | 1 | RHBDF2 CL E G H | 79651 | 2198 | | | | ORPHA | 1 | | 209 | 20788 | 614404 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | RHBDF2 CL E G H | 79651 | 2198 | | | | ORPHA | 1 | | 209 | 20788 | 614404 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | RHBDF2 CL E G H | 79651 | 2198 | | | | ORPHA | 1 | | 209 | 20788 | 614404 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 2503 | 10680 | 600857 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 2503 | 10680 | 600857 |
HP:0002239 | HP:0002249 | Melena | 1 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 2503 | 10680 | 600857 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 2503 | 10680 | 600857 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 2503 | 10680 | 600857 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 1249 | 10681 | 185470 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | SDHB CL E G H | 6390 | 97286 | | | | ORPHA | 1 | | 1249 | 10681 | 185470 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | SDHB CL E G H | 6390 | 97286 | | | | ORPHA | 1 | | 1249 | 10681 | 185470 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 1249 | 10681 | 185470 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 1249 | 10681 | 185470 |
HP:0002239 | HP:0002249 | Melena | 1 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 1249 | 10681 | 185470 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | SDHB CL E G H | 6390 | 97286 | | | | ORPHA | 1 | | 1249 | 10681 | 185470 |
HP:0002239 | HP:0002249 | Melena | 1 | SDHB CL E G H | 6390 | 97286 | | | | ORPHA | 1 | | 1249 | 10681 | 185470 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | SDHB CL E G H | 6390 | 97286 | | | | ORPHA | 1 | | 1249 | 10681 | 185470 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 1249 | 10681 | 185470 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | SDHC CL E G H | 6391 | 97286 | | | | ORPHA | 1 | | 798 | 10682 | 602413 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 798 | 10682 | 602413 |
HP:0002239 | HP:0002249 | Melena | 1 | SDHC CL E G H | 6391 | 97286 | | | | ORPHA | 1 | | 798 | 10682 | 602413 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | SDHC CL E G H | 6391 | 97286 | | | | ORPHA | 1 | | 798 | 10682 | 602413 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 798 | 10682 | 602413 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | SDHC CL E G H | 6391 | 97286 | | | | ORPHA | 1 | | 798 | 10682 | 602413 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 798 | 10682 | 602413 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | SDHC CL E G H | 6391 | 97286 | | | | ORPHA | 1 | | 798 | 10682 | 602413 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 798 | 10682 | 602413 |
HP:0002239 | HP:0002249 | Melena | 1 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 798 | 10682 | 602413 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | SDHD CL E G H | 6392 | 97286 | | | | ORPHA | 1 | | 686 | 10683 | 602690 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | SDHD CL E G H | 6392 | 97286 | | | | ORPHA | 1 | | 686 | 10683 | 602690 |
HP:0002239 | HP:0002249 | Melena | 1 | SDHD CL E G H | 6392 | 97286 | | | | ORPHA | 1 | | 686 | 10683 | 602690 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | SDHD CL E G H | 6392 | 97286 | | | | ORPHA | 1 | | 686 | 10683 | 602690 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | SDHD CL E G H | 6392 | 97286 | | | | ORPHA | 1 | | 686 | 10683 | 602690 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | STAT4 CL E G H | 6775 | 117 | | | | ORPHA | 1 | | 307 | 11365 | 600558 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | STAT4 CL E G H | 6775 | 117 | | | | ORPHA | 1 | | 307 | 11365 | 600558 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | STAT4 CL E G H | 6775 | 117 | | | | ORPHA | 1 | | 307 | 11365 | 600558 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | STAT4 CL E G H | 6775 | 117 | | | | ORPHA | 1 | | 307 | 11365 | 600558 |
HP:0002239 | HP:0002249 | Melena | 1 | STAT4 CL E G H | 6775 | 117 | | | | ORPHA | 1 | | 307 | 11365 | 600558 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | STK11 CL E G H | 6794 | 2869 | Hypertrophic osteoarthropathy, primary or idiopathic | | | ORPHA | 1 | | 2389 | 11389 | 602216 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | STK11 CL E G H | 6794 | 2869 | Hypertrophic osteoarthropathy, primary or idiopathic | | | ORPHA | 1 | | 2389 | 11389 | 602216 |
HP:0002239 | HP:0002249 | Melena | 1 | STK11 CL E G H | 6794 | 2869 | Hypertrophic osteoarthropathy, primary or idiopathic | | | ORPHA | 1 | | 2389 | 11389 | 602216 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | STK11 CL E G H | 6794 | 2869 | Hypertrophic osteoarthropathy, primary or idiopathic | | | ORPHA | 1 | | 2389 | 11389 | 602216 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | STK11 CL E G H | 6794 | 2869 | Hypertrophic osteoarthropathy, primary or idiopathic | | | ORPHA | 1 | | 2389 | 11389 | 602216 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | STN1 CL E G H | 79991 | 617341 | Cerebroretinal microangiopathy with calcifications and cysts 2 | 617341 | C4479220 | OMIM | 1 | | 225 | 26200 | 613128 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | STN1 CL E G H | 79991 | 617341 | Cerebroretinal microangiopathy with calcifications and cysts 2 | 617341 | C4479220 | OMIM | 1 | | 225 | 26200 | 613128 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | STN1 CL E G H | 79991 | 617341 | Cerebroretinal microangiopathy with calcifications and cysts 2 | 617341 | C4479220 | OMIM | 1 | | 225 | 26200 | 613128 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | STN1 CL E G H | 79991 | 617341 | Cerebroretinal microangiopathy with calcifications and cysts 2 | 617341 | C4479220 | OMIM | 1 | | 225 | 26200 | 613128 |
HP:0002239 | HP:0002249 | Melena | 1 | STN1 CL E G H | 79991 | 617341 | Cerebroretinal microangiopathy with calcifications and cysts 2 | 617341 | C4479220 | OMIM | 1 | | 225 | 26200 | 613128 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | TGFBR2 CL E G H | 7048 | 144 | | | | ORPHA | 1 | | 948 | 11773 | 190182 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | TGFBR2 CL E G H | 7048 | 144 | | | | ORPHA | 1 | | 948 | 11773 | 190182 |
HP:0002239 | HP:0002249 | Melena | 1 | TGFBR2 CL E G H | 7048 | 144 | | | | ORPHA | 1 | | 948 | 11773 | 190182 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | TGFBR2 CL E G H | 7048 | 144 | | | | ORPHA | 1 | | 948 | 11773 | 190182 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | TGFBR2 CL E G H | 7048 | 144 | | | | ORPHA | 1 | | 948 | 11773 | 190182 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | TLR4 CL E G H | 7099 | 117 | | | | ORPHA | 1 | | 83 | 11850 | 603030 |
HP:0002239 | HP:0002249 | Melena | 1 | TLR4 CL E G H | 7099 | 117 | | | | ORPHA | 1 | | 83 | 11850 | 603030 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | TLR4 CL E G H | 7099 | 117 | | | | ORPHA | 1 | | 83 | 11850 | 603030 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | TLR4 CL E G H | 7099 | 117 | | | | ORPHA | 1 | | 83 | 11850 | 603030 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | TLR4 CL E G H | 7099 | 117 | | | | ORPHA | 1 | | 83 | 11850 | 603030 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | UBAC2 CL E G H | 337867 | 117 | | | | ORPHA | 1 | | 126 | 20486 | 0 |
HP:0002239 | HP:0002249 | Melena | 1 | UBAC2 CL E G H | 337867 | 117 | | | | ORPHA | 1 | | 126 | 20486 | 0 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | UBAC2 CL E G H | 337867 | 117 | | | | ORPHA | 1 | | 126 | 20486 | 0 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | UBAC2 CL E G H | 337867 | 117 | | | | ORPHA | 1 | | 126 | 20486 | 0 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | UBAC2 CL E G H | 337867 | 117 | | | | ORPHA | 1 | | 126 | 20486 | 0 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | VWF CL E G H | 7450 | 193400 | von Willebrand disease type 1 | 193400 | C1264039 | OMIM | 1 | | 1385 | 12726 | 613160 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | VWF CL E G H | 7450 | 193400 | von Willebrand disease type 1 | 193400 | C1264039 | OMIM | 1 | | 1385 | 12726 | 613160 |
HP:0002239 | HP:0002249 | Melena | 1 | VWF CL E G H | 7450 | 193400 | von Willebrand disease type 1 | 193400 | C1264039 | OMIM | 1 | | 1385 | 12726 | 613160 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | VWF CL E G H | 7450 | 193400 | von Willebrand disease type 1 | 193400 | C1264039 | OMIM | 1 | | 1385 | 12726 | 613160 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | VWF CL E G H | 7450 | 193400 | von Willebrand disease type 1 | 193400 | C1264039 | OMIM | 1 | | 1385 | 12726 | 613160 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | ABCC6 CL E G H | 368 | 264800 | Pseudoxanthoma elasticum | 264800 | C0033847 | OMIM | 1 | | 1666 | 57 | 603234 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | ABCC6 CL E G H | 368 | 177850 | Pseudoxanthoma elasticum, forme fruste | 177850 | C1867450 | OMIM | 1 | | 1666 | 57 | 603234 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | AGGF1 CL E G H | 55109 | 90308 | | | | ORPHA | 1 | | 48 | 24684 | 608464 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | ALDOB CL E G H | 229 | 229600 | Hereditary fructosuria | 229600 | C0016751 | OMIM | 1 | | 438 | 417 | 612724 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | B2M CL E G H | 567 | 314652 | | | | ORPHA | 1 | | 60 | 914 | 109700 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | C4A CL E G H | 720 | 117 | | | | ORPHA | 1 | | 53 | 1323 | 120810 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | CCR1 CL E G H | 1230 | 117 | | | | ORPHA | 1 | | 31 | 1602 | 601159 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | CYP7B1 CL E G H | 9420 | 79302 | | | | ORPHA | 1 | | 415 | 2652 | 603711 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | EPCAM CL E G H | 4072 | 144 | | | | ORPHA | 1 | | 744 | 11529 | 185535 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | ERAP1 CL E G H | 51752 | 117 | | | | ORPHA | 1 | | 175 | 18173 | 606832 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | F2 CL E G H | 2147 | 613679 | Prothrombin deficiency, congenital | 613679 | C0020640 | OMIM | 1 | | 165 | 3535 | 176930 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | F7 CL E G H | 2155 | 327 | | | | ORPHA | 1 | | 343 | 3544 | 613878 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | F9 CL E G H | 2158 | 306900 | Hereditary factor IX deficiency disease | 306900 | C0008533 | OMIM | 1 | | 646 | 3551 | 300746 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | FAH CL E G H | 2184 | 276700 | Tyrosinemia type I | 276700 | C0268490 | OMIM | 1 | | 601 | 3579 | 613871 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | FAN1 CL E G H | 22909 | 144 | | | | ORPHA | 1 | | 482 | 29170 | 613534 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | FAS CL E G H | 355 | 117 | | | | ORPHA | 1 | | 387 | 11920 | 134637 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | FGA CL E G H | 2243 | 101041 | | | | ORPHA | 1 | | 208 | 3661 | 134820 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | FGA CL E G H | 2243 | 98881 | | | | ORPHA | 1 | | 208 | 3661 | 134820 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | FGB CL E G H | 2244 | 98881 | | | | ORPHA | 1 | | 194 | 3662 | 134830 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | FGB CL E G H | 2244 | 101041 | | | | ORPHA | 1 | | 194 | 3662 | 134830 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | FGG CL E G H | 2266 | 101041 | | | | ORPHA | 1 | | 143 | 3694 | 134850 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | FGG CL E G H | 2266 | 98881 | | | | ORPHA | 1 | | 143 | 3694 | 134850 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | GFI1B CL E G H | 8328 | 187900 | Platelet-type bleeding disorder 17 | 187900 | C1861194 | OMIM | 1 | | 123 | 4238 | 604383 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | GP1BA CL E G H | 2811 | 231200 | Bernard Soulier syndrome | 231200 | C0005129 | OMIM | 1 | | 180 | 4439 | 606672 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | GP1BB CL E G H | 2812 | 231200 | Bernard Soulier syndrome | 231200 | C0005129 | OMIM | 1 | | 479 | 4440 | 138720 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | GP9 CL E G H | 2815 | 231200 | Bernard Soulier syndrome | 231200 | C0005129 | OMIM | 1 | | 113 | 4444 | 173515 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | HLA-B CL E G H | 3106 | 117 | | | | ORPHA | 1 | | 29 | 4932 | 142830 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | HSD3B7 CL E G H | 80270 | 79301 | | | | ORPHA | 1 | | 139 | 18324 | 607764 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | IL10 CL E G H | 3586 | 117 | | | | ORPHA | 1 | | 123 | 5962 | 124092 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | IL12A CL E G H | 3592 | 117 | | | | ORPHA | 1 | | 34 | 5969 | 161560 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | IL12A-AS1 CL E G H | 101928376 | 117 | | | | ORPHA | 1 | | 18 | 49094 | 0 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | IL23R CL E G H | 149233 | 117 | | | | ORPHA | 1 | | 241 | 19100 | 607562 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | ITGA2B CL E G H | 3674 | 273800 | Glanzmann thrombasthenia | 273800 | C0040015 | OMIM | 1 | | 540 | 6138 | 607759 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | ITGB3 CL E G H | 3690 | 273800 | Glanzmann thrombasthenia | 273800 | C0040015 | OMIM | 1 | | 469 | 6156 | 173470 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | JAK2 CL E G H | 3717 | 263300 | Polycythemia vera | 263300 | C0032463 | OMIM | 1 | | 412 | 6192 | 147796 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | KIT CL E G H | 3815 | 44890 | | | | ORPHA | 1 | | 2488 | 6342 | 164920 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | KLRC4 CL E G H | 8302 | 117 | | | | ORPHA | 1 | | 44 | 6377 | 602893 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | KRAS CL E G H | 3845 | 144 | | | | ORPHA | 1 | | 480 | 6407 | 190070 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | LBR CL E G H | 3930 | 613471 | Reynolds syndrome | 613471 | C0748397 | OMIM | 1 | | 357 | 6518 | 600024 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | MEFV CL E G H | 4210 | 117 | | | | ORPHA | 1 | | 1083 | 6998 | 608107 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | MLH1 CL E G H | 4292 | 144 | | | | ORPHA | 1 | | 5122 | 7127 | 120436 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | MLH3 CL E G H | 27030 | 144 | | | | ORPHA | 1 | | 2210 | 7128 | 604395 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | MSH2 CL E G H | 4436 | 144 | | | | ORPHA | 1 | | 6856 | 7325 | 609309 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | MSH6 CL E G H | 2956 | 144 | | | | ORPHA | 1 | | 8438 | 7329 | 600678 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | MVK CL E G H | 4598 | 343 | | | | ORPHA | 1 | | 570 | 7530 | 251170 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | PDGFRA CL E G H | 5156 | 44890 | | | | ORPHA | 1 | | 2832 | 8803 | 173490 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | PIK3CA CL E G H | 5290 | 144 | | | | ORPHA | 1 | | 1159 | 8975 | 171834 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | PLOD1 CL E G H | 5351 | 225400 | Ehlers-Danlos syndrome, hydroxylysine-deficient | 225400 | C0268342 | OMIM | 1 | | 931 | 9081 | 153454 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | PMS1 CL E G H | 5378 | 144 | | | | ORPHA | 1 | | 125 | 9121 | 600258 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | PMS2 CL E G H | 5395 | 144 | | | | ORPHA | 1 | | 4719 | 9122 | 600259 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | RHBDF2 CL E G H | 79651 | 2198 | | | | ORPHA | 1 | | 209 | 20788 | 614404 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | SDHA CL E G H | 6389 | 44890 | | | | ORPHA | 1 | | 2503 | 10680 | 600857 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | SDHB CL E G H | 6390 | 97286 | | | | ORPHA | 1 | | 1249 | 10681 | 185470 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | SDHB CL E G H | 6390 | 44890 | | | | ORPHA | 1 | | 1249 | 10681 | 185470 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | SDHC CL E G H | 6391 | 44890 | | | | ORPHA | 1 | | 798 | 10682 | 602413 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | SDHC CL E G H | 6391 | 97286 | | | | ORPHA | 1 | | 798 | 10682 | 602413 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | SDHD CL E G H | 6392 | 97286 | | | | ORPHA | 1 | | 686 | 10683 | 602690 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | STAT4 CL E G H | 6775 | 117 | | | | ORPHA | 1 | | 307 | 11365 | 600558 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | STK11 CL E G H | 6794 | 2869 | Hypertrophic osteoarthropathy, primary or idiopathic | | | ORPHA | 1 | | 2389 | 11389 | 602216 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | STN1 CL E G H | 79991 | 617341 | Cerebroretinal microangiopathy with calcifications and cysts 2 | 617341 | C4479220 | OMIM | 1 | | 225 | 26200 | 613128 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | TGFBR2 CL E G H | 7048 | 144 | | | | ORPHA | 1 | | 948 | 11773 | 190182 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | TLR4 CL E G H | 7099 | 117 | | | | ORPHA | 1 | | 83 | 11850 | 603030 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | UBAC2 CL E G H | 337867 | 117 | | | | ORPHA | 1 | | 126 | 20486 | 0 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | VWF CL E G H | 7450 | 193400 | von Willebrand disease type 1 | 193400 | C1264039 | OMIM | 1 | | 1385 | 12726 | 613160 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | ABCC6 CL E G H | 368 | 758 | Apo A-I deficiency | | | ORPHA | 0 | | 1666 | 57 | 603234 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | ACVRL1 CL E G H | 94 | 774 | | | | ORPHA | 0 | | 888 | 175 | 601284 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | APC CL E G H | 324 | 873 | Bethlem myopathy | | C1834674 | ORPHA | 0 | | 13157 | 583 | 611731 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | ARHGAP31 CL E G H | 57514 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 394 | 29216 | 610911 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | ARVCF CL E G H | 421 | 567 | | | | ORPHA | 0 | | 620 | 728 | 602269 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | ATP7A CL E G H | 538 | 565 | | | | ORPHA | 0 | | 1751 | 869 | 300011 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | CBS CL E G H | 875 | 394 | | | | ORPHA | 0 | | 1120 | 1550 | 613381 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | CISD2 CL E G H | 493856 | 3463 | | | | ORPHA | 0 | | 71 | 24212 | 611507 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | COMT CL E G H | 1312 | 567 | | | | ORPHA | 0 | | 610 | 2228 | 116790 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | CTLA4 CL E G H | 1493 | 900 | | | | ORPHA | 0 | | 232 | 2505 | 123890 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | CTNNB1 CL E G H | 1499 | 873 | Bethlem myopathy | | C1834674 | ORPHA | 0 | | 624 | 2514 | 116806 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | DLL4 CL E G H | 54567 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 212 | 2910 | 605185 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | DOCK6 CL E G H | 57572 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 1080 | 19189 | 614194 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | ENG CL E G H | 2022 | 774 | | | | ORPHA | 0 | | 1413 | 3349 | 131195 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | ENPP1 CL E G H | 5167 | 758 | Apo A-I deficiency | | | ORPHA | 0 | | 589 | 3356 | 173335 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | EOGT CL E G H | 285203 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 218 | 28526 | 614789 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | F11 CL E G H | 2160 | 329 | Eosinophilic cellulitis | | | ORPHA | 0 | | 682 | 3529 | 264900 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | F5 CL E G H | 2153 | 131 | Myeloid sarcoma | | | ORPHA | 0 | | 601 | 3542 | 612309 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | FCGR2C CL E G H | 9103 | 3002 | Infantile spasms broad thumbs | | | ORPHA | 0 | | 49 | 15626 | 612169 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | GDF2 CL E G H | 2658 | 774 | | | | ORPHA | 0 | | 330 | 4217 | 605120 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | GP1BB CL E G H | 2812 | 567 | | | | ORPHA | 0 | | 479 | 4440 | 138720 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | HIRA CL E G H | 7290 | 567 | | | | ORPHA | 0 | | 476 | 4916 | 600237 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | HLA-B CL E G H | 3106 | 36426 | | | | ORPHA | 0 | | 29 | 4932 | 142830 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | HLA-DPA1 CL E G H | 3113 | 900 | | | | ORPHA | 0 | | 18 | 4938 | 142880 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | HLA-DPB1 CL E G H | 3115 | 900 | | | | ORPHA | 0 | | 19 | 4940 | 142858 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | HPGD CL E G H | 3248 | 2796 | Familial hypocalciuric hypercalcemia | | C1809471 | ORPHA | 0 | | 227 | 5154 | 601688 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | IKZF1 CL E G H | 10320 | 36426 | | | | ORPHA | 0 | | 200 | 13176 | 603023 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | ITGA2B CL E G H | 3674 | 849 | | | | ORPHA | 0 | | 540 | 6138 | 607759 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | ITGB3 CL E G H | 3690 | 849 | | | | ORPHA | 0 | | 469 | 6156 | 173470 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | JAK2 CL E G H | 3717 | 729 | Anti-factor 8 autoimmunization | | | ORPHA | 0 | | 412 | 6192 | 147796 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | JAK2 CL E G H | 3717 | 131 | Myeloid sarcoma | | | ORPHA | 0 | | 412 | 6192 | 147796 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | JMJD1C CL E G H | 221037 | 567 | | | | ORPHA | 0 | | 1178 | 12313 | 604503 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | LRP5 CL E G H | 4041 | 2924 | Hypoplastic thumbs hydranencephaly | | | ORPHA | 0 | | 1819 | 6697 | 603506 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | LYST CL E G H | 1130 | 167 | | | | ORPHA | 0 | | 2575 | 1968 | 606897 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | MPL CL E G H | 4352 | 729 | Anti-factor 8 autoimmunization | | | ORPHA | 0 | | 562 | 7217 | 159530 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | MYC CL E G H | 4609 | 543 | | | | ORPHA | 0 | | 79 | 7553 | 190080 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | MYD88 CL E G H | 4615 | 33226 | | | | ORPHA | 0 | | 141 | 7562 | 602170 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | NOTCH1 CL E G H | 4851 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 3187 | 7881 | 190198 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | PRKCSH CL E G H | 5589 | 2924 | Hypoplastic thumbs hydranencephaly | | | ORPHA | 0 | | 302 | 9411 | 177060 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | PRTN3 CL E G H | 5657 | 900 | | | | ORPHA | 0 | | 55 | 9495 | 177020 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | PTPN22 CL E G H | 26191 | 900 | | | | ORPHA | 0 | | 63 | 9652 | 600716 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | PUF60 CL E G H | 22827 | 508488 | | | | ORPHA | 0 | | 228 | 17042 | 604819 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | RBPJ CL E G H | 3516 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 186 | 5724 | 147183 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | RREB1 CL E G H | 6239 | 567 | | | | ORPHA | 0 | | 297 | 10449 | 602209 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | SEC24C CL E G H | 9632 | 567 | | | | ORPHA | 0 | | 58 | 10705 | 607185 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | SEC63 CL E G H | 11231 | 2924 | Hypoplastic thumbs hydranencephaly | | | ORPHA | 0 | | 408 | 21082 | 608648 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | SLCO2A1 CL E G H | 6578 | 2796 | Familial hypocalciuric hypercalcemia | | C1809471 | ORPHA | 0 | | 247 | 10955 | 601460 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | SMAD4 CL E G H | 4089 | 774 | | | | ORPHA | 0 | | 1898 | 6770 | 600993 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | TBX1 CL E G H | 6899 | 567 | | | | ORPHA | 0 | | 1169 | 11592 | 602054 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | TET2 CL E G H | 54790 | 729 | Anti-factor 8 autoimmunization | | | ORPHA | 0 | | 326 | 25941 | 612839 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | TNXB CL E G H | 7148 | 230839 | | | | ORPHA | 0 | | 2159 | 11976 | 600985 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | TSC1 CL E G H | 7248 | 538 | | | | ORPHA | 0 | | 4172 | 12362 | 605284 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | TSC2 CL E G H | 7249 | 538 | | | | ORPHA | 0 | | 9638 | 12363 | 191092 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | UFD1 CL E G H | 7353 | 567 | | | | ORPHA | 0 | | 415 | 12520 | 601754 |
HP:0002239 | HP:0002239 | Gastrointestinal hemorrhage | 0 | WFS1 CL E G H | 7466 | 3463 | | | | ORPHA | 0 | | 1634 | 12762 | 606201 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | ABCC6 CL E G H | 368 | 758 | Apo A-I deficiency | | | ORPHA | 0 | | 1666 | 57 | 603234 |
HP:0002239 | HP:0002249 | Melena | 1 | ABCC6 CL E G H | 368 | 758 | Apo A-I deficiency | | | ORPHA | 0 | | 1666 | 57 | 603234 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | ABCC6 CL E G H | 368 | 758 | Apo A-I deficiency | | | ORPHA | 0 | | 1666 | 57 | 603234 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | ABCC6 CL E G H | 368 | 758 | Apo A-I deficiency | | | ORPHA | 0 | | 1666 | 57 | 603234 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | ABCC6 CL E G H | 368 | 758 | Apo A-I deficiency | | | ORPHA | 0 | | 1666 | 57 | 603234 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | ACVRL1 CL E G H | 94 | 774 | | | | ORPHA | 0 | | 888 | 175 | 601284 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | ACVRL1 CL E G H | 94 | 774 | | | | ORPHA | 0 | | 888 | 175 | 601284 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | ACVRL1 CL E G H | 94 | 774 | | | | ORPHA | 0 | | 888 | 175 | 601284 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | ACVRL1 CL E G H | 94 | 774 | | | | ORPHA | 0 | | 888 | 175 | 601284 |
HP:0002239 | HP:0002249 | Melena | 1 | ACVRL1 CL E G H | 94 | 774 | | | | ORPHA | 0 | | 888 | 175 | 601284 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | APC CL E G H | 324 | 873 | Bethlem myopathy | | C1834674 | ORPHA | 0 | | 13157 | 583 | 611731 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | APC CL E G H | 324 | 873 | Bethlem myopathy | | C1834674 | ORPHA | 0 | | 13157 | 583 | 611731 |
HP:0002239 | HP:0002249 | Melena | 1 | APC CL E G H | 324 | 873 | Bethlem myopathy | | C1834674 | ORPHA | 0 | | 13157 | 583 | 611731 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | APC CL E G H | 324 | 873 | Bethlem myopathy | | C1834674 | ORPHA | 0 | | 13157 | 583 | 611731 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | APC CL E G H | 324 | 873 | Bethlem myopathy | | C1834674 | ORPHA | 0 | | 13157 | 583 | 611731 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | ARHGAP31 CL E G H | 57514 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 394 | 29216 | 610911 |
HP:0002239 | HP:0002249 | Melena | 1 | ARHGAP31 CL E G H | 57514 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 394 | 29216 | 610911 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | ARHGAP31 CL E G H | 57514 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 394 | 29216 | 610911 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | ARHGAP31 CL E G H | 57514 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 394 | 29216 | 610911 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | ARHGAP31 CL E G H | 57514 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 394 | 29216 | 610911 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | ARVCF CL E G H | 421 | 567 | | | | ORPHA | 0 | | 620 | 728 | 602269 |
HP:0002239 | HP:0002249 | Melena | 1 | ARVCF CL E G H | 421 | 567 | | | | ORPHA | 0 | | 620 | 728 | 602269 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | ARVCF CL E G H | 421 | 567 | | | | ORPHA | 0 | | 620 | 728 | 602269 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | ARVCF CL E G H | 421 | 567 | | | | ORPHA | 0 | | 620 | 728 | 602269 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | ARVCF CL E G H | 421 | 567 | | | | ORPHA | 0 | | 620 | 728 | 602269 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | ATP7A CL E G H | 538 | 565 | | | | ORPHA | 0 | | 1751 | 869 | 300011 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | ATP7A CL E G H | 538 | 565 | | | | ORPHA | 0 | | 1751 | 869 | 300011 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | ATP7A CL E G H | 538 | 565 | | | | ORPHA | 0 | | 1751 | 869 | 300011 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | ATP7A CL E G H | 538 | 565 | | | | ORPHA | 0 | | 1751 | 869 | 300011 |
HP:0002239 | HP:0002249 | Melena | 1 | ATP7A CL E G H | 538 | 565 | | | | ORPHA | 0 | | 1751 | 869 | 300011 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | CBS CL E G H | 875 | 394 | | | | ORPHA | 0 | | 1120 | 1550 | 613381 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | CBS CL E G H | 875 | 394 | | | | ORPHA | 0 | | 1120 | 1550 | 613381 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | CBS CL E G H | 875 | 394 | | | | ORPHA | 0 | | 1120 | 1550 | 613381 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | CBS CL E G H | 875 | 394 | | | | ORPHA | 0 | | 1120 | 1550 | 613381 |
HP:0002239 | HP:0002249 | Melena | 1 | CBS CL E G H | 875 | 394 | | | | ORPHA | 0 | | 1120 | 1550 | 613381 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | CISD2 CL E G H | 493856 | 3463 | | | | ORPHA | 0 | | 71 | 24212 | 611507 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | CISD2 CL E G H | 493856 | 3463 | | | | ORPHA | 0 | | 71 | 24212 | 611507 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | CISD2 CL E G H | 493856 | 3463 | | | | ORPHA | 0 | | 71 | 24212 | 611507 |
HP:0002239 | HP:0002249 | Melena | 1 | CISD2 CL E G H | 493856 | 3463 | | | | ORPHA | 0 | | 71 | 24212 | 611507 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | CISD2 CL E G H | 493856 | 3463 | | | | ORPHA | 0 | | 71 | 24212 | 611507 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | COMT CL E G H | 1312 | 567 | | | | ORPHA | 0 | | 610 | 2228 | 116790 |
HP:0002239 | HP:0002249 | Melena | 1 | COMT CL E G H | 1312 | 567 | | | | ORPHA | 0 | | 610 | 2228 | 116790 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | COMT CL E G H | 1312 | 567 | | | | ORPHA | 0 | | 610 | 2228 | 116790 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | COMT CL E G H | 1312 | 567 | | | | ORPHA | 0 | | 610 | 2228 | 116790 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | COMT CL E G H | 1312 | 567 | | | | ORPHA | 0 | | 610 | 2228 | 116790 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | CTLA4 CL E G H | 1493 | 900 | | | | ORPHA | 0 | | 232 | 2505 | 123890 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | CTLA4 CL E G H | 1493 | 900 | | | | ORPHA | 0 | | 232 | 2505 | 123890 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | CTLA4 CL E G H | 1493 | 900 | | | | ORPHA | 0 | | 232 | 2505 | 123890 |
HP:0002239 | HP:0002249 | Melena | 1 | CTLA4 CL E G H | 1493 | 900 | | | | ORPHA | 0 | | 232 | 2505 | 123890 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | CTLA4 CL E G H | 1493 | 900 | | | | ORPHA | 0 | | 232 | 2505 | 123890 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | CTNNB1 CL E G H | 1499 | 873 | Bethlem myopathy | | C1834674 | ORPHA | 0 | | 624 | 2514 | 116806 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | CTNNB1 CL E G H | 1499 | 873 | Bethlem myopathy | | C1834674 | ORPHA | 0 | | 624 | 2514 | 116806 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | CTNNB1 CL E G H | 1499 | 873 | Bethlem myopathy | | C1834674 | ORPHA | 0 | | 624 | 2514 | 116806 |
HP:0002239 | HP:0002249 | Melena | 1 | CTNNB1 CL E G H | 1499 | 873 | Bethlem myopathy | | C1834674 | ORPHA | 0 | | 624 | 2514 | 116806 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | CTNNB1 CL E G H | 1499 | 873 | Bethlem myopathy | | C1834674 | ORPHA | 0 | | 624 | 2514 | 116806 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | DLL4 CL E G H | 54567 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 212 | 2910 | 605185 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | DLL4 CL E G H | 54567 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 212 | 2910 | 605185 |
HP:0002239 | HP:0002249 | Melena | 1 | DLL4 CL E G H | 54567 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 212 | 2910 | 605185 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | DLL4 CL E G H | 54567 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 212 | 2910 | 605185 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | DLL4 CL E G H | 54567 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 212 | 2910 | 605185 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | DOCK6 CL E G H | 57572 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 1080 | 19189 | 614194 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | DOCK6 CL E G H | 57572 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 1080 | 19189 | 614194 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | DOCK6 CL E G H | 57572 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 1080 | 19189 | 614194 |
HP:0002239 | HP:0002249 | Melena | 1 | DOCK6 CL E G H | 57572 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 1080 | 19189 | 614194 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | DOCK6 CL E G H | 57572 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 1080 | 19189 | 614194 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | ENG CL E G H | 2022 | 774 | | | | ORPHA | 0 | | 1413 | 3349 | 131195 |
HP:0002239 | HP:0002249 | Melena | 1 | ENG CL E G H | 2022 | 774 | | | | ORPHA | 0 | | 1413 | 3349 | 131195 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | ENG CL E G H | 2022 | 774 | | | | ORPHA | 0 | | 1413 | 3349 | 131195 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | ENG CL E G H | 2022 | 774 | | | | ORPHA | 0 | | 1413 | 3349 | 131195 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | ENG CL E G H | 2022 | 774 | | | | ORPHA | 0 | | 1413 | 3349 | 131195 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | ENPP1 CL E G H | 5167 | 758 | Apo A-I deficiency | | | ORPHA | 0 | | 589 | 3356 | 173335 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | ENPP1 CL E G H | 5167 | 758 | Apo A-I deficiency | | | ORPHA | 0 | | 589 | 3356 | 173335 |
HP:0002239 | HP:0002249 | Melena | 1 | ENPP1 CL E G H | 5167 | 758 | Apo A-I deficiency | | | ORPHA | 0 | | 589 | 3356 | 173335 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | ENPP1 CL E G H | 5167 | 758 | Apo A-I deficiency | | | ORPHA | 0 | | 589 | 3356 | 173335 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | ENPP1 CL E G H | 5167 | 758 | Apo A-I deficiency | | | ORPHA | 0 | | 589 | 3356 | 173335 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | EOGT CL E G H | 285203 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 218 | 28526 | 614789 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | EOGT CL E G H | 285203 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 218 | 28526 | 614789 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | EOGT CL E G H | 285203 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 218 | 28526 | 614789 |
HP:0002239 | HP:0002249 | Melena | 1 | EOGT CL E G H | 285203 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 218 | 28526 | 614789 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | EOGT CL E G H | 285203 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 218 | 28526 | 614789 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | F11 CL E G H | 2160 | 329 | Eosinophilic cellulitis | | | ORPHA | 0 | | 682 | 3529 | 264900 |
HP:0002239 | HP:0002249 | Melena | 1 | F11 CL E G H | 2160 | 329 | Eosinophilic cellulitis | | | ORPHA | 0 | | 682 | 3529 | 264900 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | F11 CL E G H | 2160 | 329 | Eosinophilic cellulitis | | | ORPHA | 0 | | 682 | 3529 | 264900 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | F11 CL E G H | 2160 | 329 | Eosinophilic cellulitis | | | ORPHA | 0 | | 682 | 3529 | 264900 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | F11 CL E G H | 2160 | 329 | Eosinophilic cellulitis | | | ORPHA | 0 | | 682 | 3529 | 264900 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | F5 CL E G H | 2153 | 131 | Myeloid sarcoma | | | ORPHA | 0 | | 601 | 3542 | 612309 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | F5 CL E G H | 2153 | 131 | Myeloid sarcoma | | | ORPHA | 0 | | 601 | 3542 | 612309 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | F5 CL E G H | 2153 | 131 | Myeloid sarcoma | | | ORPHA | 0 | | 601 | 3542 | 612309 |
HP:0002239 | HP:0002249 | Melena | 1 | F5 CL E G H | 2153 | 131 | Myeloid sarcoma | | | ORPHA | 0 | | 601 | 3542 | 612309 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | F5 CL E G H | 2153 | 131 | Myeloid sarcoma | | | ORPHA | 0 | | 601 | 3542 | 612309 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | FCGR2C CL E G H | 9103 | 3002 | Infantile spasms broad thumbs | | | ORPHA | 0 | | 49 | 15626 | 612169 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | FCGR2C CL E G H | 9103 | 3002 | Infantile spasms broad thumbs | | | ORPHA | 0 | | 49 | 15626 | 612169 |
HP:0002239 | HP:0002249 | Melena | 1 | FCGR2C CL E G H | 9103 | 3002 | Infantile spasms broad thumbs | | | ORPHA | 0 | | 49 | 15626 | 612169 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | FCGR2C CL E G H | 9103 | 3002 | Infantile spasms broad thumbs | | | ORPHA | 0 | | 49 | 15626 | 612169 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | FCGR2C CL E G H | 9103 | 3002 | Infantile spasms broad thumbs | | | ORPHA | 0 | | 49 | 15626 | 612169 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | GDF2 CL E G H | 2658 | 774 | | | | ORPHA | 0 | | 330 | 4217 | 605120 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | GDF2 CL E G H | 2658 | 774 | | | | ORPHA | 0 | | 330 | 4217 | 605120 |
HP:0002239 | HP:0002249 | Melena | 1 | GDF2 CL E G H | 2658 | 774 | | | | ORPHA | 0 | | 330 | 4217 | 605120 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | GDF2 CL E G H | 2658 | 774 | | | | ORPHA | 0 | | 330 | 4217 | 605120 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | GDF2 CL E G H | 2658 | 774 | | | | ORPHA | 0 | | 330 | 4217 | 605120 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | GP1BB CL E G H | 2812 | 567 | | | | ORPHA | 0 | | 479 | 4440 | 138720 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | GP1BB CL E G H | 2812 | 567 | | | | ORPHA | 0 | | 479 | 4440 | 138720 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | GP1BB CL E G H | 2812 | 567 | | | | ORPHA | 0 | | 479 | 4440 | 138720 |
HP:0002239 | HP:0002249 | Melena | 1 | GP1BB CL E G H | 2812 | 567 | | | | ORPHA | 0 | | 479 | 4440 | 138720 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | GP1BB CL E G H | 2812 | 567 | | | | ORPHA | 0 | | 479 | 4440 | 138720 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | HIRA CL E G H | 7290 | 567 | | | | ORPHA | 0 | | 476 | 4916 | 600237 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | HIRA CL E G H | 7290 | 567 | | | | ORPHA | 0 | | 476 | 4916 | 600237 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | HIRA CL E G H | 7290 | 567 | | | | ORPHA | 0 | | 476 | 4916 | 600237 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | HIRA CL E G H | 7290 | 567 | | | | ORPHA | 0 | | 476 | 4916 | 600237 |
HP:0002239 | HP:0002249 | Melena | 1 | HIRA CL E G H | 7290 | 567 | | | | ORPHA | 0 | | 476 | 4916 | 600237 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | HLA-B CL E G H | 3106 | 36426 | | | | ORPHA | 0 | | 29 | 4932 | 142830 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | HLA-B CL E G H | 3106 | 36426 | | | | ORPHA | 0 | | 29 | 4932 | 142830 |
HP:0002239 | HP:0002249 | Melena | 1 | HLA-B CL E G H | 3106 | 36426 | | | | ORPHA | 0 | | 29 | 4932 | 142830 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | HLA-B CL E G H | 3106 | 36426 | | | | ORPHA | 0 | | 29 | 4932 | 142830 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | HLA-B CL E G H | 3106 | 36426 | | | | ORPHA | 0 | | 29 | 4932 | 142830 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | HLA-DPA1 CL E G H | 3113 | 900 | | | | ORPHA | 0 | | 18 | 4938 | 142880 |
HP:0002239 | HP:0002249 | Melena | 1 | HLA-DPA1 CL E G H | 3113 | 900 | | | | ORPHA | 0 | | 18 | 4938 | 142880 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | HLA-DPA1 CL E G H | 3113 | 900 | | | | ORPHA | 0 | | 18 | 4938 | 142880 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | HLA-DPA1 CL E G H | 3113 | 900 | | | | ORPHA | 0 | | 18 | 4938 | 142880 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | HLA-DPA1 CL E G H | 3113 | 900 | | | | ORPHA | 0 | | 18 | 4938 | 142880 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | HLA-DPB1 CL E G H | 3115 | 900 | | | | ORPHA | 0 | | 19 | 4940 | 142858 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | HLA-DPB1 CL E G H | 3115 | 900 | | | | ORPHA | 0 | | 19 | 4940 | 142858 |
HP:0002239 | HP:0002249 | Melena | 1 | HLA-DPB1 CL E G H | 3115 | 900 | | | | ORPHA | 0 | | 19 | 4940 | 142858 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | HLA-DPB1 CL E G H | 3115 | 900 | | | | ORPHA | 0 | | 19 | 4940 | 142858 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | HLA-DPB1 CL E G H | 3115 | 900 | | | | ORPHA | 0 | | 19 | 4940 | 142858 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | HPGD CL E G H | 3248 | 2796 | Familial hypocalciuric hypercalcemia | | C1809471 | ORPHA | 0 | | 227 | 5154 | 601688 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | HPGD CL E G H | 3248 | 2796 | Familial hypocalciuric hypercalcemia | | C1809471 | ORPHA | 0 | | 227 | 5154 | 601688 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | HPGD CL E G H | 3248 | 2796 | Familial hypocalciuric hypercalcemia | | C1809471 | ORPHA | 0 | | 227 | 5154 | 601688 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | HPGD CL E G H | 3248 | 2796 | Familial hypocalciuric hypercalcemia | | C1809471 | ORPHA | 0 | | 227 | 5154 | 601688 |
HP:0002239 | HP:0002249 | Melena | 1 | HPGD CL E G H | 3248 | 2796 | Familial hypocalciuric hypercalcemia | | C1809471 | ORPHA | 0 | | 227 | 5154 | 601688 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | IKZF1 CL E G H | 10320 | 36426 | | | | ORPHA | 0 | | 200 | 13176 | 603023 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | IKZF1 CL E G H | 10320 | 36426 | | | | ORPHA | 0 | | 200 | 13176 | 603023 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | IKZF1 CL E G H | 10320 | 36426 | | | | ORPHA | 0 | | 200 | 13176 | 603023 |
HP:0002239 | HP:0002249 | Melena | 1 | IKZF1 CL E G H | 10320 | 36426 | | | | ORPHA | 0 | | 200 | 13176 | 603023 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | IKZF1 CL E G H | 10320 | 36426 | | | | ORPHA | 0 | | 200 | 13176 | 603023 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | ITGA2B CL E G H | 3674 | 849 | | | | ORPHA | 0 | | 540 | 6138 | 607759 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | ITGA2B CL E G H | 3674 | 849 | | | | ORPHA | 0 | | 540 | 6138 | 607759 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | ITGA2B CL E G H | 3674 | 849 | | | | ORPHA | 0 | | 540 | 6138 | 607759 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | ITGA2B CL E G H | 3674 | 849 | | | | ORPHA | 0 | | 540 | 6138 | 607759 |
HP:0002239 | HP:0002249 | Melena | 1 | ITGA2B CL E G H | 3674 | 849 | | | | ORPHA | 0 | | 540 | 6138 | 607759 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | ITGB3 CL E G H | 3690 | 849 | | | | ORPHA | 0 | | 469 | 6156 | 173470 |
HP:0002239 | HP:0002249 | Melena | 1 | ITGB3 CL E G H | 3690 | 849 | | | | ORPHA | 0 | | 469 | 6156 | 173470 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | ITGB3 CL E G H | 3690 | 849 | | | | ORPHA | 0 | | 469 | 6156 | 173470 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | ITGB3 CL E G H | 3690 | 849 | | | | ORPHA | 0 | | 469 | 6156 | 173470 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | ITGB3 CL E G H | 3690 | 849 | | | | ORPHA | 0 | | 469 | 6156 | 173470 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | JAK2 CL E G H | 3717 | 729 | Anti-factor 8 autoimmunization | | | ORPHA | 0 | | 412 | 6192 | 147796 |
HP:0002239 | HP:0002249 | Melena | 1 | JAK2 CL E G H | 3717 | 729 | Anti-factor 8 autoimmunization | | | ORPHA | 0 | | 412 | 6192 | 147796 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | JAK2 CL E G H | 3717 | 729 | Anti-factor 8 autoimmunization | | | ORPHA | 0 | | 412 | 6192 | 147796 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | JAK2 CL E G H | 3717 | 729 | Anti-factor 8 autoimmunization | | | ORPHA | 0 | | 412 | 6192 | 147796 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | JAK2 CL E G H | 3717 | 729 | Anti-factor 8 autoimmunization | | | ORPHA | 0 | | 412 | 6192 | 147796 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | JAK2 CL E G H | 3717 | 131 | Myeloid sarcoma | | | ORPHA | 0 | | 412 | 6192 | 147796 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | JAK2 CL E G H | 3717 | 131 | Myeloid sarcoma | | | ORPHA | 0 | | 412 | 6192 | 147796 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | JAK2 CL E G H | 3717 | 131 | Myeloid sarcoma | | | ORPHA | 0 | | 412 | 6192 | 147796 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | JAK2 CL E G H | 3717 | 131 | Myeloid sarcoma | | | ORPHA | 0 | | 412 | 6192 | 147796 |
HP:0002239 | HP:0002249 | Melena | 1 | JAK2 CL E G H | 3717 | 131 | Myeloid sarcoma | | | ORPHA | 0 | | 412 | 6192 | 147796 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | JMJD1C CL E G H | 221037 | 567 | | | | ORPHA | 0 | | 1178 | 12313 | 604503 |
HP:0002239 | HP:0002249 | Melena | 1 | JMJD1C CL E G H | 221037 | 567 | | | | ORPHA | 0 | | 1178 | 12313 | 604503 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | JMJD1C CL E G H | 221037 | 567 | | | | ORPHA | 0 | | 1178 | 12313 | 604503 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | JMJD1C CL E G H | 221037 | 567 | | | | ORPHA | 0 | | 1178 | 12313 | 604503 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | JMJD1C CL E G H | 221037 | 567 | | | | ORPHA | 0 | | 1178 | 12313 | 604503 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | LRP5 CL E G H | 4041 | 2924 | Hypoplastic thumbs hydranencephaly | | | ORPHA | 0 | | 1819 | 6697 | 603506 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | LRP5 CL E G H | 4041 | 2924 | Hypoplastic thumbs hydranencephaly | | | ORPHA | 0 | | 1819 | 6697 | 603506 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | LRP5 CL E G H | 4041 | 2924 | Hypoplastic thumbs hydranencephaly | | | ORPHA | 0 | | 1819 | 6697 | 603506 |
HP:0002239 | HP:0002249 | Melena | 1 | LRP5 CL E G H | 4041 | 2924 | Hypoplastic thumbs hydranencephaly | | | ORPHA | 0 | | 1819 | 6697 | 603506 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | LRP5 CL E G H | 4041 | 2924 | Hypoplastic thumbs hydranencephaly | | | ORPHA | 0 | | 1819 | 6697 | 603506 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | LYST CL E G H | 1130 | 167 | | | | ORPHA | 0 | | 2575 | 1968 | 606897 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | LYST CL E G H | 1130 | 167 | | | | ORPHA | 0 | | 2575 | 1968 | 606897 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | LYST CL E G H | 1130 | 167 | | | | ORPHA | 0 | | 2575 | 1968 | 606897 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | LYST CL E G H | 1130 | 167 | | | | ORPHA | 0 | | 2575 | 1968 | 606897 |
HP:0002239 | HP:0002249 | Melena | 1 | LYST CL E G H | 1130 | 167 | | | | ORPHA | 0 | | 2575 | 1968 | 606897 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | MPL CL E G H | 4352 | 729 | Anti-factor 8 autoimmunization | | | ORPHA | 0 | | 562 | 7217 | 159530 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | MPL CL E G H | 4352 | 729 | Anti-factor 8 autoimmunization | | | ORPHA | 0 | | 562 | 7217 | 159530 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | MPL CL E G H | 4352 | 729 | Anti-factor 8 autoimmunization | | | ORPHA | 0 | | 562 | 7217 | 159530 |
HP:0002239 | HP:0002249 | Melena | 1 | MPL CL E G H | 4352 | 729 | Anti-factor 8 autoimmunization | | | ORPHA | 0 | | 562 | 7217 | 159530 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | MPL CL E G H | 4352 | 729 | Anti-factor 8 autoimmunization | | | ORPHA | 0 | | 562 | 7217 | 159530 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | MYC CL E G H | 4609 | 543 | | | | ORPHA | 0 | | 79 | 7553 | 190080 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | MYC CL E G H | 4609 | 543 | | | | ORPHA | 0 | | 79 | 7553 | 190080 |
HP:0002239 | HP:0002249 | Melena | 1 | MYC CL E G H | 4609 | 543 | | | | ORPHA | 0 | | 79 | 7553 | 190080 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | MYC CL E G H | 4609 | 543 | | | | ORPHA | 0 | | 79 | 7553 | 190080 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | MYC CL E G H | 4609 | 543 | | | | ORPHA | 0 | | 79 | 7553 | 190080 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | MYD88 CL E G H | 4615 | 33226 | | | | ORPHA | 0 | | 141 | 7562 | 602170 |
HP:0002239 | HP:0002249 | Melena | 1 | MYD88 CL E G H | 4615 | 33226 | | | | ORPHA | 0 | | 141 | 7562 | 602170 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | MYD88 CL E G H | 4615 | 33226 | | | | ORPHA | 0 | | 141 | 7562 | 602170 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | MYD88 CL E G H | 4615 | 33226 | | | | ORPHA | 0 | | 141 | 7562 | 602170 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | MYD88 CL E G H | 4615 | 33226 | | | | ORPHA | 0 | | 141 | 7562 | 602170 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | NOTCH1 CL E G H | 4851 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 3187 | 7881 | 190198 |
HP:0002239 | HP:0002249 | Melena | 1 | NOTCH1 CL E G H | 4851 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 3187 | 7881 | 190198 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | NOTCH1 CL E G H | 4851 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 3187 | 7881 | 190198 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | NOTCH1 CL E G H | 4851 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 3187 | 7881 | 190198 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | NOTCH1 CL E G H | 4851 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 3187 | 7881 | 190198 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | PRKCSH CL E G H | 5589 | 2924 | Hypoplastic thumbs hydranencephaly | | | ORPHA | 0 | | 302 | 9411 | 177060 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | PRKCSH CL E G H | 5589 | 2924 | Hypoplastic thumbs hydranencephaly | | | ORPHA | 0 | | 302 | 9411 | 177060 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | PRKCSH CL E G H | 5589 | 2924 | Hypoplastic thumbs hydranencephaly | | | ORPHA | 0 | | 302 | 9411 | 177060 |
HP:0002239 | HP:0002249 | Melena | 1 | PRKCSH CL E G H | 5589 | 2924 | Hypoplastic thumbs hydranencephaly | | | ORPHA | 0 | | 302 | 9411 | 177060 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | PRKCSH CL E G H | 5589 | 2924 | Hypoplastic thumbs hydranencephaly | | | ORPHA | 0 | | 302 | 9411 | 177060 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | PRTN3 CL E G H | 5657 | 900 | | | | ORPHA | 0 | | 55 | 9495 | 177020 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | PRTN3 CL E G H | 5657 | 900 | | | | ORPHA | 0 | | 55 | 9495 | 177020 |
HP:0002239 | HP:0002249 | Melena | 1 | PRTN3 CL E G H | 5657 | 900 | | | | ORPHA | 0 | | 55 | 9495 | 177020 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | PRTN3 CL E G H | 5657 | 900 | | | | ORPHA | 0 | | 55 | 9495 | 177020 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | PRTN3 CL E G H | 5657 | 900 | | | | ORPHA | 0 | | 55 | 9495 | 177020 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | PTPN22 CL E G H | 26191 | 900 | | | | ORPHA | 0 | | 63 | 9652 | 600716 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | PTPN22 CL E G H | 26191 | 900 | | | | ORPHA | 0 | | 63 | 9652 | 600716 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | PTPN22 CL E G H | 26191 | 900 | | | | ORPHA | 0 | | 63 | 9652 | 600716 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | PTPN22 CL E G H | 26191 | 900 | | | | ORPHA | 0 | | 63 | 9652 | 600716 |
HP:0002239 | HP:0002249 | Melena | 1 | PTPN22 CL E G H | 26191 | 900 | | | | ORPHA | 0 | | 63 | 9652 | 600716 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | PUF60 CL E G H | 22827 | 508488 | | | | ORPHA | 0 | | 228 | 17042 | 604819 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | PUF60 CL E G H | 22827 | 508488 | | | | ORPHA | 0 | | 228 | 17042 | 604819 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | PUF60 CL E G H | 22827 | 508488 | | | | ORPHA | 0 | | 228 | 17042 | 604819 |
HP:0002239 | HP:0002249 | Melena | 1 | PUF60 CL E G H | 22827 | 508488 | | | | ORPHA | 0 | | 228 | 17042 | 604819 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | PUF60 CL E G H | 22827 | 508488 | | | | ORPHA | 0 | | 228 | 17042 | 604819 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | RBPJ CL E G H | 3516 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 186 | 5724 | 147183 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | RBPJ CL E G H | 3516 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 186 | 5724 | 147183 |
HP:0002239 | HP:0002249 | Melena | 1 | RBPJ CL E G H | 3516 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 186 | 5724 | 147183 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | RBPJ CL E G H | 3516 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 186 | 5724 | 147183 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | RBPJ CL E G H | 3516 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 186 | 5724 | 147183 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | RREB1 CL E G H | 6239 | 567 | | | | ORPHA | 0 | | 297 | 10449 | 602209 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | RREB1 CL E G H | 6239 | 567 | | | | ORPHA | 0 | | 297 | 10449 | 602209 |
HP:0002239 | HP:0002249 | Melena | 1 | RREB1 CL E G H | 6239 | 567 | | | | ORPHA | 0 | | 297 | 10449 | 602209 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | RREB1 CL E G H | 6239 | 567 | | | | ORPHA | 0 | | 297 | 10449 | 602209 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | RREB1 CL E G H | 6239 | 567 | | | | ORPHA | 0 | | 297 | 10449 | 602209 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | SEC24C CL E G H | 9632 | 567 | | | | ORPHA | 0 | | 58 | 10705 | 607185 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | SEC24C CL E G H | 9632 | 567 | | | | ORPHA | 0 | | 58 | 10705 | 607185 |
HP:0002239 | HP:0002249 | Melena | 1 | SEC24C CL E G H | 9632 | 567 | | | | ORPHA | 0 | | 58 | 10705 | 607185 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | SEC24C CL E G H | 9632 | 567 | | | | ORPHA | 0 | | 58 | 10705 | 607185 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | SEC24C CL E G H | 9632 | 567 | | | | ORPHA | 0 | | 58 | 10705 | 607185 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | SEC63 CL E G H | 11231 | 2924 | Hypoplastic thumbs hydranencephaly | | | ORPHA | 0 | | 408 | 21082 | 608648 |
HP:0002239 | HP:0002249 | Melena | 1 | SEC63 CL E G H | 11231 | 2924 | Hypoplastic thumbs hydranencephaly | | | ORPHA | 0 | | 408 | 21082 | 608648 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | SEC63 CL E G H | 11231 | 2924 | Hypoplastic thumbs hydranencephaly | | | ORPHA | 0 | | 408 | 21082 | 608648 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | SEC63 CL E G H | 11231 | 2924 | Hypoplastic thumbs hydranencephaly | | | ORPHA | 0 | | 408 | 21082 | 608648 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | SEC63 CL E G H | 11231 | 2924 | Hypoplastic thumbs hydranencephaly | | | ORPHA | 0 | | 408 | 21082 | 608648 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | SLCO2A1 CL E G H | 6578 | 2796 | Familial hypocalciuric hypercalcemia | | C1809471 | ORPHA | 0 | | 247 | 10955 | 601460 |
HP:0002239 | HP:0002249 | Melena | 1 | SLCO2A1 CL E G H | 6578 | 2796 | Familial hypocalciuric hypercalcemia | | C1809471 | ORPHA | 0 | | 247 | 10955 | 601460 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | SLCO2A1 CL E G H | 6578 | 2796 | Familial hypocalciuric hypercalcemia | | C1809471 | ORPHA | 0 | | 247 | 10955 | 601460 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | SLCO2A1 CL E G H | 6578 | 2796 | Familial hypocalciuric hypercalcemia | | C1809471 | ORPHA | 0 | | 247 | 10955 | 601460 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | SLCO2A1 CL E G H | 6578 | 2796 | Familial hypocalciuric hypercalcemia | | C1809471 | ORPHA | 0 | | 247 | 10955 | 601460 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | SMAD4 CL E G H | 4089 | 774 | | | | ORPHA | 0 | | 1898 | 6770 | 600993 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | SMAD4 CL E G H | 4089 | 774 | | | | ORPHA | 0 | | 1898 | 6770 | 600993 |
HP:0002239 | HP:0002249 | Melena | 1 | SMAD4 CL E G H | 4089 | 774 | | | | ORPHA | 0 | | 1898 | 6770 | 600993 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | SMAD4 CL E G H | 4089 | 774 | | | | ORPHA | 0 | | 1898 | 6770 | 600993 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | SMAD4 CL E G H | 4089 | 774 | | | | ORPHA | 0 | | 1898 | 6770 | 600993 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | TBX1 CL E G H | 6899 | 567 | | | | ORPHA | 0 | | 1169 | 11592 | 602054 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | TBX1 CL E G H | 6899 | 567 | | | | ORPHA | 0 | | 1169 | 11592 | 602054 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | TBX1 CL E G H | 6899 | 567 | | | | ORPHA | 0 | | 1169 | 11592 | 602054 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | TBX1 CL E G H | 6899 | 567 | | | | ORPHA | 0 | | 1169 | 11592 | 602054 |
HP:0002239 | HP:0002249 | Melena | 1 | TBX1 CL E G H | 6899 | 567 | | | | ORPHA | 0 | | 1169 | 11592 | 602054 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | TET2 CL E G H | 54790 | 729 | Anti-factor 8 autoimmunization | | | ORPHA | 0 | | 326 | 25941 | 612839 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | TET2 CL E G H | 54790 | 729 | Anti-factor 8 autoimmunization | | | ORPHA | 0 | | 326 | 25941 | 612839 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | TET2 CL E G H | 54790 | 729 | Anti-factor 8 autoimmunization | | | ORPHA | 0 | | 326 | 25941 | 612839 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | TET2 CL E G H | 54790 | 729 | Anti-factor 8 autoimmunization | | | ORPHA | 0 | | 326 | 25941 | 612839 |
HP:0002239 | HP:0002249 | Melena | 1 | TET2 CL E G H | 54790 | 729 | Anti-factor 8 autoimmunization | | | ORPHA | 0 | | 326 | 25941 | 612839 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | TNXB CL E G H | 7148 | 230839 | | | | ORPHA | 0 | | 2159 | 11976 | 600985 |
HP:0002239 | HP:0002249 | Melena | 1 | TNXB CL E G H | 7148 | 230839 | | | | ORPHA | 0 | | 2159 | 11976 | 600985 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | TNXB CL E G H | 7148 | 230839 | | | | ORPHA | 0 | | 2159 | 11976 | 600985 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | TNXB CL E G H | 7148 | 230839 | | | | ORPHA | 0 | | 2159 | 11976 | 600985 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | TNXB CL E G H | 7148 | 230839 | | | | ORPHA | 0 | | 2159 | 11976 | 600985 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | TSC1 CL E G H | 7248 | 538 | | | | ORPHA | 0 | | 4172 | 12362 | 605284 |
HP:0002239 | HP:0002249 | Melena | 1 | TSC1 CL E G H | 7248 | 538 | | | | ORPHA | 0 | | 4172 | 12362 | 605284 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | TSC1 CL E G H | 7248 | 538 | | | | ORPHA | 0 | | 4172 | 12362 | 605284 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | TSC1 CL E G H | 7248 | 538 | | | | ORPHA | 0 | | 4172 | 12362 | 605284 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | TSC1 CL E G H | 7248 | 538 | | | | ORPHA | 0 | | 4172 | 12362 | 605284 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | TSC2 CL E G H | 7249 | 538 | | | | ORPHA | 0 | | 9638 | 12363 | 191092 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | TSC2 CL E G H | 7249 | 538 | | | | ORPHA | 0 | | 9638 | 12363 | 191092 |
HP:0002239 | HP:0002249 | Melena | 1 | TSC2 CL E G H | 7249 | 538 | | | | ORPHA | 0 | | 9638 | 12363 | 191092 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | TSC2 CL E G H | 7249 | 538 | | | | ORPHA | 0 | | 9638 | 12363 | 191092 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | TSC2 CL E G H | 7249 | 538 | | | | ORPHA | 0 | | 9638 | 12363 | 191092 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | UFD1 CL E G H | 7353 | 567 | | | | ORPHA | 0 | | 415 | 12520 | 601754 |
HP:0002239 | HP:0002249 | Melena | 1 | UFD1 CL E G H | 7353 | 567 | | | | ORPHA | 0 | | 415 | 12520 | 601754 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | UFD1 CL E G H | 7353 | 567 | | | | ORPHA | 0 | | 415 | 12520 | 601754 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | UFD1 CL E G H | 7353 | 567 | | | | ORPHA | 0 | | 415 | 12520 | 601754 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | UFD1 CL E G H | 7353 | 567 | | | | ORPHA | 0 | | 415 | 12520 | 601754 |
HP:0002239 | HP:0032144 | Coffee ground vomitus | 1 | WFS1 CL E G H | 7466 | 3463 | | | | ORPHA | 0 | | 1634 | 12762 | 606201 |
HP:0002239 | HP:0002584 | Intestinal bleeding | 1 | WFS1 CL E G H | 7466 | 3463 | | | | ORPHA | 0 | | 1634 | 12762 | 606201 |
HP:0002239 | HP:0002573 | Hematochezia | 1 | WFS1 CL E G H | 7466 | 3463 | | | | ORPHA | 0 | | 1634 | 12762 | 606201 |
HP:0002239 | HP:0002248 | Hematemesis | 1 | WFS1 CL E G H | 7466 | 3463 | | | | ORPHA | 0 | | 1634 | 12762 | 606201 |
HP:0002239 | HP:0002249 | Melena | 1 | WFS1 CL E G H | 7466 | 3463 | | | | ORPHA | 0 | | 1634 | 12762 | 606201 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | ABCC6 CL E G H | 368 | 758 | Apo A-I deficiency | | | ORPHA | 0 | | 1666 | 57 | 603234 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | ACVRL1 CL E G H | 94 | 774 | | | | ORPHA | 0 | | 888 | 175 | 601284 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | APC CL E G H | 324 | 873 | Bethlem myopathy | | C1834674 | ORPHA | 0 | | 13157 | 583 | 611731 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | ARHGAP31 CL E G H | 57514 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 394 | 29216 | 610911 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | ARVCF CL E G H | 421 | 567 | | | | ORPHA | 0 | | 620 | 728 | 602269 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | ATP7A CL E G H | 538 | 565 | | | | ORPHA | 0 | | 1751 | 869 | 300011 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | CBS CL E G H | 875 | 394 | | | | ORPHA | 0 | | 1120 | 1550 | 613381 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | CISD2 CL E G H | 493856 | 3463 | | | | ORPHA | 0 | | 71 | 24212 | 611507 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | COMT CL E G H | 1312 | 567 | | | | ORPHA | 0 | | 610 | 2228 | 116790 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | CTLA4 CL E G H | 1493 | 900 | | | | ORPHA | 0 | | 232 | 2505 | 123890 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | CTNNB1 CL E G H | 1499 | 873 | Bethlem myopathy | | C1834674 | ORPHA | 0 | | 624 | 2514 | 116806 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | DLL4 CL E G H | 54567 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 212 | 2910 | 605185 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | DOCK6 CL E G H | 57572 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 1080 | 19189 | 614194 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | ENG CL E G H | 2022 | 774 | | | | ORPHA | 0 | | 1413 | 3349 | 131195 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | ENPP1 CL E G H | 5167 | 758 | Apo A-I deficiency | | | ORPHA | 0 | | 589 | 3356 | 173335 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | EOGT CL E G H | 285203 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 218 | 28526 | 614789 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | F11 CL E G H | 2160 | 329 | Eosinophilic cellulitis | | | ORPHA | 0 | | 682 | 3529 | 264900 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | F5 CL E G H | 2153 | 131 | Myeloid sarcoma | | | ORPHA | 0 | | 601 | 3542 | 612309 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | FCGR2C CL E G H | 9103 | 3002 | Infantile spasms broad thumbs | | | ORPHA | 0 | | 49 | 15626 | 612169 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | GDF2 CL E G H | 2658 | 774 | | | | ORPHA | 0 | | 330 | 4217 | 605120 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | GP1BB CL E G H | 2812 | 567 | | | | ORPHA | 0 | | 479 | 4440 | 138720 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | HIRA CL E G H | 7290 | 567 | | | | ORPHA | 0 | | 476 | 4916 | 600237 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | HLA-B CL E G H | 3106 | 36426 | | | | ORPHA | 0 | | 29 | 4932 | 142830 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | HLA-DPA1 CL E G H | 3113 | 900 | | | | ORPHA | 0 | | 18 | 4938 | 142880 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | HLA-DPB1 CL E G H | 3115 | 900 | | | | ORPHA | 0 | | 19 | 4940 | 142858 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | HPGD CL E G H | 3248 | 2796 | Familial hypocalciuric hypercalcemia | | C1809471 | ORPHA | 0 | | 227 | 5154 | 601688 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | IKZF1 CL E G H | 10320 | 36426 | | | | ORPHA | 0 | | 200 | 13176 | 603023 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | ITGA2B CL E G H | 3674 | 849 | | | | ORPHA | 0 | | 540 | 6138 | 607759 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | ITGB3 CL E G H | 3690 | 849 | | | | ORPHA | 0 | | 469 | 6156 | 173470 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | JAK2 CL E G H | 3717 | 729 | Anti-factor 8 autoimmunization | | | ORPHA | 0 | | 412 | 6192 | 147796 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | JAK2 CL E G H | 3717 | 131 | Myeloid sarcoma | | | ORPHA | 0 | | 412 | 6192 | 147796 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | JMJD1C CL E G H | 221037 | 567 | | | | ORPHA | 0 | | 1178 | 12313 | 604503 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | LRP5 CL E G H | 4041 | 2924 | Hypoplastic thumbs hydranencephaly | | | ORPHA | 0 | | 1819 | 6697 | 603506 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | LYST CL E G H | 1130 | 167 | | | | ORPHA | 0 | | 2575 | 1968 | 606897 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | MPL CL E G H | 4352 | 729 | Anti-factor 8 autoimmunization | | | ORPHA | 0 | | 562 | 7217 | 159530 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | MYC CL E G H | 4609 | 543 | | | | ORPHA | 0 | | 79 | 7553 | 190080 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | MYD88 CL E G H | 4615 | 33226 | | | | ORPHA | 0 | | 141 | 7562 | 602170 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | NOTCH1 CL E G H | 4851 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 3187 | 7881 | 190198 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | PRKCSH CL E G H | 5589 | 2924 | Hypoplastic thumbs hydranencephaly | | | ORPHA | 0 | | 302 | 9411 | 177060 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | PRTN3 CL E G H | 5657 | 900 | | | | ORPHA | 0 | | 55 | 9495 | 177020 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | PTPN22 CL E G H | 26191 | 900 | | | | ORPHA | 0 | | 63 | 9652 | 600716 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | PUF60 CL E G H | 22827 | 508488 | | | | ORPHA | 0 | | 228 | 17042 | 604819 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | RBPJ CL E G H | 3516 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 186 | 5724 | 147183 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | RREB1 CL E G H | 6239 | 567 | | | | ORPHA | 0 | | 297 | 10449 | 602209 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | SEC24C CL E G H | 9632 | 567 | | | | ORPHA | 0 | | 58 | 10705 | 607185 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | SEC63 CL E G H | 11231 | 2924 | Hypoplastic thumbs hydranencephaly | | | ORPHA | 0 | | 408 | 21082 | 608648 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | SLCO2A1 CL E G H | 6578 | 2796 | Familial hypocalciuric hypercalcemia | | C1809471 | ORPHA | 0 | | 247 | 10955 | 601460 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | SMAD4 CL E G H | 4089 | 774 | | | | ORPHA | 0 | | 1898 | 6770 | 600993 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | TBX1 CL E G H | 6899 | 567 | | | | ORPHA | 0 | | 1169 | 11592 | 602054 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | TET2 CL E G H | 54790 | 729 | Anti-factor 8 autoimmunization | | | ORPHA | 0 | | 326 | 25941 | 612839 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | TNXB CL E G H | 7148 | 230839 | | | | ORPHA | 0 | | 2159 | 11976 | 600985 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | TSC1 CL E G H | 7248 | 538 | | | | ORPHA | 0 | | 4172 | 12362 | 605284 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | TSC2 CL E G H | 7249 | 538 | | | | ORPHA | 0 | | 9638 | 12363 | 191092 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | UFD1 CL E G H | 7353 | 567 | | | | ORPHA | 0 | | 415 | 12520 | 601754 |
HP:0002239 | HP:0012849 | Small intestinal bleeding | 2 | WFS1 CL E G H | 7466 | 3463 | | | | ORPHA | 0 | | 1634 | 12762 | 606201 |