Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | ABCA1 CL E G H | 19 | 29 | ORPHA:31150 | Tangier disease | HP:0040282 - Frequent | | | 191 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | ABCB11 CL E G H | 8647 | 42 | ORPHA:69665 | Intrahepatic cholestasis of pregnancy | HP:0040284 - Very rare | | | 146 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | ABCB4 CL E G H | 5244 | 45 | ORPHA:69665 | Intrahepatic cholestasis of pregnancy | HP:0040284 - Very rare | | | 111 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | ABCB4 CL E G H | 5244 | 45 | ORPHA:69663 | Low phospholipid-associated cholelithiasis | | | | 111 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | ABCC2 CL E G H | 1244 | 53 | ORPHA:234 | Dubin-Johnson syndrome | HP:0040283 - Occasional | | | 119 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | ABCD1 CL E G H | 215 | 61 | ORPHA:388 | Hirschsprung disease | HP:0040281 - Very frequent | | | 135 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | ABCG8 CL E G H | 64241 | 13887 | OMIM:210250 | Sitosterolemia 1 | . | | | 76 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | ACTG2 CL E G H | 72 | 145 | OMIM:155310 | Visceral myopathy 1 | . | | | 23 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | ACTN4 CL E G H | 81 | 166 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 27 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | ADA2 CL E G H | 51816 | 1839 | OMIM:615688 | Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome | | | | 22 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | ALAD CL E G H | 210 | 395 | ORPHA:100924 | Porphyria due to ALA dehydratase deficiency | HP:0040282 - Frequent | | | 62 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | ALAD CL E G H | 210 | 395 | OMIM:612740 | Porphyria, acute hepatic | | | | 62 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | ALDH4A1 CL E G H | 8659 | 406 | ORPHA:79101 | Hyperprolinemia type 2 | HP:0040283 - Occasional | | | 74 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | ALDOB CL E G H | 229 | 417 | OMIM:229600 | Fructose intolerance, hereditary | . | | | 73 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | ALDOB CL E G H | 229 | 417 | ORPHA:469 | Hereditary fructose intolerance | HP:0040281 - Very frequent | | | 73 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | ANK1 CL E G H | 286 | 492 | ORPHA:822 | Hereditary spherocytosis | HP:0040283 - Occasional | | | 150 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | ANKFY1 CL E G H | 51479 | 20763 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | ANLN CL E G H | 54443 | 14082 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | APC CL E G H | 324 | 583 | ORPHA:873 | Desmoid tumor | HP:0040282 - Frequent | | | 3179 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | APC CL E G H | 324 | 583 | OMIM:619182 | GASTRIC ADENOCARCINOMA AND PROXIMAL POLYPOSIS OF THE STOMACH; GAPPS | | | | 3179 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | APC CL E G H | 324 | 583 | ORPHA:99818 | Turcot syndrome with polyposis | HP:0040283 - Occasional | | | 3179 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | APOL1 CL E G H | 8542 | 618 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | APRT CL E G H | 353 | 626 | ORPHA:976 | Adenine phosphoribosyltransferase deficiency | | | | 19 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | APRT CL E G H | 353 | 626 | OMIM:614723 | Adenine phosphoribosyltransferase deficiency | | | | 19 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | ARHGAP24 CL E G H | 83478 | 25361 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | ARHGDIA CL E G H | 396 | 678 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040282 - Frequent | | | 145 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040283 - Occasional | | | 145 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | ATP7A CL E G H | 538 | 869 | ORPHA:388 | Hirschsprung disease | HP:0040281 - Very frequent | | | 192 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | ATP8B1 CL E G H | 5205 | 3706 | ORPHA:69665 | Intrahepatic cholestasis of pregnancy | HP:0040284 - Very rare | | | 144 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | ATRX CL E G H | 546 | 886 | ORPHA:100075 | Neuroendocrine tumor of stomach | | | | 169 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | BCL10 CL E G H | 8915 | 989 | ORPHA:52417 | MALT lymphoma | HP:0040283 - Occasional | | | 18 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | BCL11A CL E G H | 53335 | 13221 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 11 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | BCOR CL E G H | 54880 | 20893 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 101 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | BIRC3 CL E G H | 330 | 591 | ORPHA:52417 | MALT lymphoma | HP:0040283 - Occasional | | | | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | BMP2 CL E G H | 650 | 1069 | OMIM:235200 | Hemochromatosis, type 1 | . | | | 13 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | BMP6 CL E G H | 654 | 1073 | ORPHA:465508 | Symptomatic form of hemochromatosis type 1 | HP:0040282 - Frequent | | | | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | BMPR1A CL E G H | 657 | 1076 | ORPHA:440437 | Familial colorectal cancer Type X | HP:0040281 - Very frequent | | | 385 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | BMPR1A CL E G H | 657 | 1076 | ORPHA:79076 | Juvenile polyposis of infancy | HP:0040282 - Frequent | | | 385 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | BMPR1A CL E G H | 657 | 1076 | OMIM:174900 | Juvenile polyposis syndrome | | | | 385 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:70567 | Cholangiocarcinoma | HP:0040283 - Occasional | | | 5769 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040281 - Very frequent | | | 5769 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:168829 | Primary peritoneal carcinoma | HP:0040281 - Very frequent | | | 5769 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:70567 | Cholangiocarcinoma | HP:0040283 - Occasional | | | 7642 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040281 - Very frequent | | | 7642 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:654 | Nephroblastoma | HP:0040281 - Very frequent | | | 7642 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | C4A CL E G H | 720 | 1323 | ORPHA:117 | Behçet disease | HP:0040282 - Frequent | | | 1 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | CALR CL E G H | 811 | 1455 | ORPHA:131 | Budd-Chiari syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | CARD8 CL E G H | 22900 | 17057 | OMIM:619079 | INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30; IBD30 | | | | 1 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | CASK CL E G H | 8573 | 1497 | OMIM:300908 | Anemia, nonspherocytic hemolytic, due to g6pd deficiency | . | | | 118 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | CASR CL E G H | 846 | 1514 | ORPHA:428 | Autosomal dominant hypocalcemia | HP:0040282 - Frequent | | | 272 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | CASR CL E G H | 846 | 1514 | ORPHA:676 | Hereditary chronic pancreatitis | HP:0040281 - Very frequent | | | 272 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | CBL CL E G H | 867 | 1541 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040282 - Frequent | | | 317 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | CCND1 CL E G H | 595 | 1582 | ORPHA:892 | Von Hippel-Lindau disease | HP:0040283 - Occasional | | | 1 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | CCR1 CL E G H | 1230 | 1602 | ORPHA:117 | Behçet disease | HP:0040282 - Frequent | | | | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | CD2AP CL E G H | 23607 | 14258 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 105 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | CD46 CL E G H | 4179 | 6953 | ORPHA:244242 | HELLP syndrome | HP:0040283 - Occasional | | | 39 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | CD55 CL E G H | 1604 | 2665 | OMIM:226300 | Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy | . | | | 9 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | CDC73 CL E G H | 79577 | 16783 | ORPHA:99880 | Hyperparathyroidism-jaw tumor syndrome | | | | 169 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | CDC73 CL E G H | 79577 | 16783 | ORPHA:143 | Parathyroid carcinoma | | | | 169 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040282 - Frequent | | | 2 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040282 - Frequent | | | 102 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:276152 | Multiple endocrine neoplasia type 4 | | | | 102 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 289 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040281 - Very frequent | | | 289 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040282 - Frequent | | | 1 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040282 - Frequent | | | | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | CEBPE CL E G H | 1053 | 1836 | OMIM:260570 | Pelger-Huet-Like anomaly and episodic fever with abdominal pain | . | | | 3 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | CEL CL E G H | 1056 | 1848 | OMIM:609812 | Maturity-Onset diabetes of the young, type 8, with exocrine dysfunction | . | | | 25 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | CFH CL E G H | 3075 | 4883 | ORPHA:244242 | HELLP syndrome | HP:0040283 - Occasional | | | 86 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | CFI CL E G H | 3426 | 5394 | ORPHA:244242 | HELLP syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | CFTR CL E G H | 1080 | 1884 | ORPHA:676 | Hereditary chronic pancreatitis | HP:0040281 - Very frequent | | | 1371 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | CFTR CL E G H | 1080 | 1884 | OMIM:167800 | Pancreatitis, hereditary | . | | | 1371 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:358 | Gitelman syndrome | HP:0040282 - Frequent | | | 27 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | CLDN16 CL E G H | 10686 | 2037 | OMIM:248250 | Hypomagnesemia 3, renal | . | | | 58 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | CLPB CL E G H | 81570 | 30664 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040282 - Frequent | | | 38 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | COL4A3 CL E G H | 1285 | 2204 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 161 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | COL4A5 CL E G H | 1287 | 2207 | ORPHA:1018 | X-linked Alport syndrome-diffuse leiomyomatosis | | | | 678 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | COL4A6 CL E G H | 1288 | 2208 | ORPHA:1018 | X-linked Alport syndrome-diffuse leiomyomatosis | | | | 18 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | COQ8B CL E G H | 79934 | 19041 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 35 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | CORIN CL E G H | 10699 | 19012 | ORPHA:275555 | Preeclampsia | HP:0040283 - Occasional | | | 5 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | CPA1 CL E G H | 1357 | 2296 | ORPHA:676 | Hereditary chronic pancreatitis | HP:0040281 - Very frequent | | | 5 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | CPOX CL E G H | 1371 | 2321 | OMIM:121300 | Coproporphyria | | | | 72 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | CPOX CL E G H | 1371 | 2321 | ORPHA:79273 | Hereditary coproporphyria | HP:0040281 - Very frequent | | | 72 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228305 | Carnitine palmitoyl transferase II deficiency, severe infantile form | | | | 101 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | CRB2 CL E G H | 286204 | 18688 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040282 - Frequent | | | 10 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 88 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:873 | Desmoid tumor | HP:0040282 - Frequent | | | 88 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:33402 | Pediatric hepatocellular carcinoma | HP:0040281 - Very frequent | | | 88 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | CTRC CL E G H | 11330 | 2523 | ORPHA:676 | Hereditary chronic pancreatitis | HP:0040281 - Very frequent | | | 39 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | CTRC CL E G H | 11330 | 2523 | OMIM:167800 | Pancreatitis, hereditary | . | | | 39 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | DAAM2 CL E G H | 23500 | 18143 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | DAXX CL E G H | 1616 | 2681 | ORPHA:100075 | Neuroendocrine tumor of stomach | | | | | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | DDIT3 CL E G H | 1649 | 2726 | ORPHA:99967 | Myxoid/round cell liposarcoma | HP:0040283 - Occasional | | | | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | DGAT1 CL E G H | 8694 | 2843 | OMIM:615863 | Diarrhea 7, protein-losing Enteropathy type | | | | 9 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | DIS3L2 CL E G H | 129563 | 28648 | ORPHA:654 | Nephroblastoma | HP:0040281 - Very frequent | | | 164 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | DLST CL E G H | 1743 | 2911 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | DMPK CL E G H | 1760 | 2933 | ORPHA:589821 | Congenital-onset Steinert myotonic dystrophy | | | | 152 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | DNASE1L3 CL E G H | 1776 | 2959 | ORPHA:36412 | Hypocomplementemic urticarial vasculitis | HP:0040282 - Frequent | | | 3 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | DNMT3A CL E G H | 1788 | 2978 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | | | | 44 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | ECE1 CL E G H | 1889 | 3146 | ORPHA:388 | Hirschsprung disease | HP:0040281 - Very frequent | | | 13 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | EDN3 CL E G H | 1908 | 3178 | ORPHA:388 | Hirschsprung disease | HP:0040281 - Very frequent | | | 67 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | EDN3 CL E G H | 1908 | 3178 | ORPHA:897 | Waardenburg-Shah syndrome | HP:0040282 - Frequent | | | 67 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | EDNRB CL E G H | 1910 | 3180 | ORPHA:388 | Hirschsprung disease | HP:0040281 - Very frequent | | | 55 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | EDNRB CL E G H | 1910 | 3180 | ORPHA:897 | Waardenburg-Shah syndrome | HP:0040282 - Frequent | | | 55 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | ELANE CL E G H | 1991 | 3309 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040282 - Frequent | | | 79 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | ELANE CL E G H | 1991 | 3309 | ORPHA:2686 | Cyclic neutropenia | HP:0040283 - Occasional | | | 79 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | ELF4 CL E G H | 2000 | 3319 | OMIM:301074 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2 | | | | 1 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 172 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | EMP2 CL E G H | 2013 | 3334 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | EPAS1 CL E G H | 2034 | 3374 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | | | | 112 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | EPB41 CL E G H | 2035 | 3377 | ORPHA:288 | Hereditary elliptocytosis | HP:0040284 - Very rare | | | 6 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | EPB42 CL E G H | 2038 | 3381 | ORPHA:822 | Hereditary spherocytosis | HP:0040283 - Occasional | | | 51 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | EPCAM CL E G H | 4072 | 11529 | ORPHA:144 | Lynch syndrome | HP:0040281 - Very frequent | | | 170 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | EPOR CL E G H | 2057 | 3416 | ORPHA:90042 | Primary familial polycythemia | HP:0040282 - Frequent | | | 43 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | ERAP1 CL E G H | 51752 | 18173 | ORPHA:117 | Behçet disease | HP:0040282 - Frequent | | | 1 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | ERBB2 CL E G H | 2064 | 3430 | ORPHA:388 | Hirschsprung disease | HP:0040281 - Very frequent | | | 77 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | ERBB3 CL E G H | 2065 | 3431 | ORPHA:388 | Hirschsprung disease | HP:0040281 - Very frequent | | | 12 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | ERBB3 CL E G H | 2065 | 3431 | OMIM:243180 | Visceral neuropathy, familial, autosomal recessive | | | | 12 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | ESR1 CL E G H | 2099 | 3467 | ORPHA:785 | Estrogen resistance syndrome | | | | 13 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | EWSR1 CL E G H | 2130 | 3508 | ORPHA:83469 | Desmoplastic small round cell tumor | HP:0040281 - Very frequent | | | | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | F12 CL E G H | 2161 | 3530 | OMIM:610618 | ANGIOEDEMA, HEREDITARY, TYPE III; HAE3 | | | | 28 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | F5 CL E G H | 2153 | 3542 | ORPHA:131 | Budd-Chiari syndrome | HP:0040282 - Frequent | | | 159 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | FAN1 CL E G H | 22909 | 29170 | ORPHA:144 | Lynch syndrome | HP:0040281 - Very frequent | | | 15 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | FAS CL E G H | 355 | 11920 | ORPHA:117 | Behçet disease | HP:0040282 - Frequent | | | 59 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | FGF13 CL E G H | 2258 | 3670 | OMIM:301058 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90 | | | | 1 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | FH CL E G H | 2271 | 3700 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 301 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | FIP1L1 CL E G H | 81608 | 19124 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 4 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | FLI1 CL E G H | 2313 | 3749 | ORPHA:370348 | Peripheral primitive neuroectodermal tumor | | | | 8 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | FLT1 CL E G H | 2321 | 3763 | ORPHA:275555 | Preeclampsia | HP:0040283 - Occasional | | | 11 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | FOXP1 CL E G H | 27086 | 3823 | ORPHA:52417 | MALT lymphoma | HP:0040283 - Occasional | | | 184 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | FSHR CL E G H | 2492 | 3969 | OMIM:608115 | Ovarian hyperstimulation syndrome | . | | | 50 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | FSHR CL E G H | 2492 | 3969 | ORPHA:64739 | Ovarian hyperstimulation syndrome | HP:0040281 - Very frequent | | | 50 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | FUS CL E G H | 2521 | 4010 | ORPHA:99967 | Myxoid/round cell liposarcoma | HP:0040283 - Occasional | | | 105 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | G6PD CL E G H | 2539 | 4057 | OMIM:300908 | Anemia, nonspherocytic hemolytic, due to g6pd deficiency | . | | | 101 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | GAPVD1 CL E G H | 26130 | 23375 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:77259 | Gaucher disease type 1 | HP:0040282 - Frequent | | | | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | GCGR CL E G H | 2642 | 4192 | ORPHA:438274 | GCGR-related hyperglucagonemia | HP:0040282 - Frequent | | | 1 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | GCGR CL E G H | 2642 | 4192 | OMIM:619290 | MAHVASH DISEASE; MVAH | | | | 1 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | GDNF CL E G H | 2668 | 4232 | ORPHA:388 | Hirschsprung disease | HP:0040281 - Very frequent | | | 59 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | GFI1 CL E G H | 2672 | 4237 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040282 - Frequent | | | 56 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | GHSR CL E G H | 2693 | 4267 | ORPHA:314811 | Short stature due to GHSR deficiency | HP:0040281 - Very frequent | | | 37 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | GLA CL E G H | 2717 | 4296 | OMIM:301500 | Fabry disease | . | | | 291 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | GLA CL E G H | 2717 | 4296 | ORPHA:324 | Fabry disease | HP:0040281 - Very frequent | | | 291 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | GNA11 CL E G H | 2767 | 4379 | ORPHA:428 | Autosomal dominant hypocalcemia | HP:0040282 - Frequent | | | 16 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | GNE CL E G H | 10020 | 23657 | ORPHA:3166 | Sialuria | | | | 173 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | GPC3 CL E G H | 2719 | 4451 | ORPHA:654 | Nephroblastoma | HP:0040281 - Very frequent | | | 73 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | GPR35 CL E G H | 2859 | 4492 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | 2 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | GUCY2C CL E G H | 2984 | 4688 | OMIM:614616 | Diarrhea 6 | HP:0040283 - Occasional | | | 12 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | GYPC CL E G H | 2995 | 4704 | ORPHA:288 | Hereditary elliptocytosis | HP:0040284 - Very rare | | | 5 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | H19 CL E G H | 283120 | 4713 | ORPHA:654 | Nephroblastoma | HP:0040281 - Very frequent | | | 4 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:90039 | Hemoglobin D disease | | | | 580 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 580 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | HBB CL E G H | 3043 | 4827 | OMIM:603903 | Sickle cell anemia | . | | | 580 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | HBG1 CL E G H | 3047 | 4831 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 35 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | HBG2 CL E G H | 3048 | 4832 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 50 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | HELLPAR CL E G H | 101101692 | 43984 | ORPHA:244242 | HELLP syndrome | HP:0040283 - Occasional | | | | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | HEXB CL E G H | 3074 | 4879 | OMIM:268800 | Sandhoff disease | | | | 80 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | HFE CL E G H | 3077 | 4886 | OMIM:235200 | Hemochromatosis, type 1 | . | | | 38 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | HFE CL E G H | 3077 | 4886 | OMIM:176200 | Porphyria variegata | . | | | 38 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | HFE CL E G H | 3077 | 4886 | ORPHA:465508 | Symptomatic form of hemochromatosis type 1 | HP:0040282 - Frequent | | | 38 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:117 | Behçet disease | HP:0040282 - Frequent | | | 4 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:397 | Giant cell arteritis | HP:0040283 - Occasional | | | 4 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:29207 | Reactive arthritis | HP:0040282 - Frequent | | | 4 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:36426 | Stevens-Johnson syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | HLA-DPA1 CL E G H | 3113 | 4938 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040282 - Frequent | | | | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | HLA-DPB1 CL E G H | 3115 | 4940 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040282 - Frequent | | | 1 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | HLA-DQA1 CL E G H | 3117 | 4942 | OMIM:212750 | Celiac disease, susceptibility to, 1 | . | | | | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | HLA-DQB1 CL E G H | 3119 | 4944 | OMIM:212750 | Celiac disease, susceptibility to, 1 | . | | | | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:397 | Giant cell arteritis | HP:0040283 - Occasional | | | 2 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 2 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | HMBS CL E G H | 3145 | 4982 | ORPHA:79276 | Acute intermittent porphyria | HP:0040281 - Very frequent | | | 81 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | HMBS CL E G H | 3145 | 4982 | OMIM:176000 | Porphyria, acute intermittent | . | | | 81 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | HPS1 CL E G H | 3257 | 5163 | OMIM:203300 | Hermansky-Pudlak syndrome 1 | . | | | 121 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | HS3ST6 CL E G H | 64711 | 14178 | OMIM:619367 | ANGIOEDEMA, HEREDITARY, 8; HAE8 | | | | | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | IFNGR1 CL E G H | 3459 | 5439 | ORPHA:117 | Behçet disease | HP:0040282 - Frequent | | | 60 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | IGH CL E G H | 3492 | 5477 | ORPHA:52417 | MALT lymphoma | HP:0040283 - Occasional | | | 7 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | IKZF1 CL E G H | 10320 | 13176 | ORPHA:36426 | Stevens-Johnson syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | IL10 CL E G H | 3586 | 5962 | ORPHA:117 | Behçet disease | HP:0040282 - Frequent | | | 2 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | IL12A CL E G H | 3592 | 5969 | ORPHA:117 | Behçet disease | HP:0040282 - Frequent | | | | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | IL12A-AS1 CL E G H | 101928376 | 49094 | ORPHA:117 | Behçet disease | HP:0040282 - Frequent | | | | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | IL23R CL E G H | 149233 | 19100 | ORPHA:117 | Behçet disease | HP:0040282 - Frequent | | | 1 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | IL6 CL E G H | 3569 | 6018 | OMIM:266600 | Inflammatory bowel disease 1, Crohn disease | . | | | 2 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | IL6 CL E G H | 3569 | 6018 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 2 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | INF2 CL E G H | 64423 | 23791 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 135 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | IRAK1 CL E G H | 3654 | 6112 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040283 - Occasional | | | | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | IRF2BP2 CL E G H | 359948 | 21729 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 4 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | IRF4 CL E G H | 3662 | 6119 | ORPHA:3452 | Whipple disease | HP:0040281 - Very frequent | | | 1 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | JAK2 CL E G H | 3717 | 6192 | ORPHA:131 | Budd-Chiari syndrome | HP:0040282 - Frequent | | | 57 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | JAK2 CL E G H | 3717 | 6192 | ORPHA:729 | Polycythemia vera | HP:0040281 - Very frequent | | | 57 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | KCNN4 CL E G H | 3783 | 6293 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | HP:0040283 - Occasional | | | 3 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | KIF1B CL E G H | 23095 | 16636 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 202 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | KIF1B CL E G H | 23095 | 16636 | OMIM:256700 | Neuroblastoma, susceptibility to | . | | | 202 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | KIT CL E G H | 3815 | 6342 | ORPHA:79455 | Cutaneous mastocytoma | HP:0040283 - Occasional | | | 327 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | KIT CL E G H | 3815 | 6342 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040283 - Occasional | | | 327 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | KLF1 CL E G H | 10661 | 6345 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 42 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | KLRC4 CL E G H | 8302 | 6377 | ORPHA:117 | Behçet disease | HP:0040282 - Frequent | | | | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040281 - Very frequent | | | 196 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:144 | Lynch syndrome | HP:0040281 - Very frequent | | | 196 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | LACC1 CL E G H | 144811 | 26789 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 1 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | LIG3 CL E G H | 3980 | 6600 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040281 - Very frequent | | | 1 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | LPL CL E G H | 4023 | 6677 | OMIM:238600 | Type I hyperlipoproteinemia | | | | 106 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | LRP5 CL E G H | 4041 | 6697 | ORPHA:2924 | Isolated polycystic liver disease | HP:0040283 - Occasional | | | 125 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | MAGI2 CL E G H | 9863 | 18957 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 59 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | MALT1 CL E G H | 10892 | 6819 | ORPHA:52417 | MALT lymphoma | HP:0040283 - Occasional | | | 6 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | MAX CL E G H | 4149 | 6913 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 84 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | MC2R CL E G H | 4158 | 6930 | ORPHA:361 | Familial glucocorticoid deficiency | | | | 94 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | MCM6 CL E G H | 4175 | 6949 | OMIM:223100 | LACTOSE INTOLERANCE, ADULT TYPE | | | | 5 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | MDH2 CL E G H | 4191 | 6971 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 4 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:301068 | HARDIKAR SYNDROME; HDKR | | | | 228 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | MEFV CL E G H | 4210 | 6998 | ORPHA:117 | Behçet disease | HP:0040282 - Frequent | | | 281 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | MEFV CL E G H | 4210 | 6998 | ORPHA:342 | Familial Mediterranean fever | HP:0040281 - Very frequent | | | 281 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | MEFV CL E G H | 4210 | 6998 | OMIM:249100 | Familial Mediterranean fever, AR | | | | 281 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | MEFV CL E G H | 4210 | 6998 | OMIM:134610 | FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT | | | | 281 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040282 - Frequent | | | 462 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | MET CL E G H | 4233 | 7029 | ORPHA:33402 | Pediatric hepatocellular carcinoma | HP:0040281 - Very frequent | | | 375 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | MIF CL E G H | 4282 | 7097 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 1 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | MITF CL E G H | 4286 | 7105 | ORPHA:897 | Waardenburg-Shah syndrome | HP:0040282 - Frequent | | | 91 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | MLH1 CL E G H | 4292 | 7127 | ORPHA:144 | Lynch syndrome | HP:0040281 - Very frequent | | | 1819 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | MLH3 CL E G H | 27030 | 7128 | ORPHA:144 | Lynch syndrome | HP:0040281 - Very frequent | | | 131 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | MLYCD CL E G H | 23417 | 7150 | OMIM:248360 | Malonyl-CoA decarboxylase deficiency | . | | | 80 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | MMUT CL E G H | 4594 | 7526 | ORPHA:79312 | Vitamin B12-unresponsive methylmalonic acidemia type mut- | HP:0040283 - Occasional | | | | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | MPL CL E G H | 4352 | 7217 | ORPHA:729 | Polycythemia vera | HP:0040281 - Very frequent | | | 97 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | MRAP CL E G H | 56246 | 1304 | ORPHA:361 | Familial glucocorticoid deficiency | | | | 26 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | MSH2 CL E G H | 4436 | 7325 | ORPHA:144 | Lynch syndrome | HP:0040281 - Very frequent | | | 2162 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | MSH6 CL E G H | 2956 | 7329 | ORPHA:144 | Lynch syndrome | HP:0040281 - Very frequent | | | 2232 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | MST1 CL E G H | 4485 | 7380 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | 1 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | MVK CL E G H | 4598 | 7530 | OMIM:260920 | Hyper-Igd syndrome | | | | 150 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | MVK CL E G H | 4598 | 7530 | ORPHA:343 | Hyperimmunoglobulinemia D with periodic fever | HP:0040281 - Very frequent | | | 150 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | MYC CL E G H | 4609 | 7553 | ORPHA:543 | Burkitt lymphoma | HP:0040283 - Occasional | | | 11 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | MYO1E CL E G H | 4643 | 7599 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | NABP1 CL E G H | 64859 | 26232 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 1952 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:871 | Familial progressive cardiac conduction defect | HP:0040282 - Frequent | | | 90 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | NLRP12 CL E G H | 91662 | 22938 | OMIM:611762 | Familial cold autoinflammatory syndrome 2 | | | | 99 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:47045 | Familial cold urticaria | HP:0040283 - Occasional | | | 217 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:575 | Muckle-Wells syndrome | HP:0040282 - Frequent | | | 217 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | NNT CL E G H | 23530 | 7863 | ORPHA:361 | Familial glucocorticoid deficiency | | | | 13 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | NOD2 CL E G H | 64127 | 5331 | OMIM:266600 | Inflammatory bowel disease 1, Crohn disease | . | | | 187 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | NOD2 CL E G H | 64127 | 5331 | OMIM:617321 | YAO SYNDROME; YAOS | | | | 187 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | NPHS1 CL E G H | 4868 | 7908 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 241 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | NPHS2 CL E G H | 7827 | 13394 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 69 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | NPM1 CL E G H | 4869 | 7910 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 12 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | NR1H4 CL E G H | 9971 | 7967 | ORPHA:69665 | Intrahepatic cholestasis of pregnancy | HP:0040284 - Very rare | | | 14 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | NRTN CL E G H | 4902 | 8007 | ORPHA:388 | Hirschsprung disease | HP:0040281 - Very frequent | | | 4 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | NUMA1 CL E G H | 4926 | 8059 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | NUP107 CL E G H | 57122 | 29914 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | NUP133 CL E G H | 55746 | 18016 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | NUP160 CL E G H | 23279 | 18017 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | NUP205 CL E G H | 23165 | 18658 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | NUP37 CL E G H | 79023 | 29929 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | NUP85 CL E G H | 79902 | 8734 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | NUP93 CL E G H | 9688 | 28958 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | OPLAH CL E G H | 26873 | 8149 | OMIM:260005 | 5-@oxoprolinase deficiency | . | | | 5 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | OTC CL E G H | 5009 | 8512 | OMIM:311250 | Ornithine transcarbamylase deficiency, hyperammonemia due to | | | | 369 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | OTULIN CL E G H | 90268 | 25118 | OMIM:617099 | AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS | | | | 3 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | P4HA2 CL E G H | 8974 | 8547 | ORPHA:397 | Giant cell arteritis | HP:0040283 - Occasional | | | 3 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | PALB2 CL E G H | 79728 | 26144 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040281 - Very frequent | | | 1349 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | PALLD CL E G H | 23022 | 17068 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040281 - Very frequent | | | 192 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | PAX2 CL E G H | 5076 | 8616 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 39 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | PIEZO1 CL E G H | 9780 | 28993 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | HP:0040283 - Occasional | | | 36 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | PIGA CL E G H | 5277 | 8957 | ORPHA:447 | Paroxysmal nocturnal hemoglobinuria | | | | 46 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | PIGT CL E G H | 51604 | 14938 | OMIM:615399 | Paroxysmal nocturnal hemoglobinuria 2 | . | | | 12 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | PIGY CL E G H | 84992 | 28213 | OMIM:616809 | Hyperphosphatasia with mental retardation syndrome 6 | | | | 2 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:144 | Lynch syndrome | HP:0040281 - Very frequent | | | 162 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:53035 | Caroli disease | HP:0040282 - Frequent | | | 563 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | PLCE1 CL E G H | 51196 | 17175 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 118 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | PML CL E G H | 5371 | 9113 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 3 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | PMS1 CL E G H | 5378 | 9121 | ORPHA:144 | Lynch syndrome | HP:0040281 - Very frequent | | | 56 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | PMS2 CL E G H | 5395 | 9122 | ORPHA:144 | Lynch syndrome | HP:0040281 - Very frequent | | | 1121 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | PNPT1 CL E G H | 87178 | 23166 | ORPHA:101111 | Spinocerebellar ataxia type 25 | | | | 60 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | POLG CL E G H | 5428 | 9179 | OMIM:603041 | Mitochondrial DNA depletion syndrome 1 (mngie type) | . | | | 464 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | POLG CL E G H | 5428 | 9179 | OMIM:613662 | Mitochondrial DNA depletion syndrome 4B (mngie type) | . | | | 464 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040281 - Very frequent | | | 464 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:86812 | POMT1-related limb-girdle muscular dystrophy R11 | HP:0040283 - Occasional | | | 213 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | PORCN CL E G H | 64840 | 17652 | ORPHA:2092 | Focal dermal hypoplasia | HP:0040283 - Occasional | | | 20 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | POU6F2 CL E G H | 11281 | 21694 | ORPHA:654 | Nephroblastoma | HP:0040281 - Very frequent | | | 2 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | PPOX CL E G H | 5498 | 9280 | ORPHA:79473 | Porphyria variegata | HP:0040281 - Very frequent | | | 41 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | PPOX CL E G H | 5498 | 9280 | OMIM:176200 | Porphyria variegata | . | | | 41 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 134 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 134 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | PRKCSH CL E G H | 5589 | 9411 | ORPHA:2924 | Isolated polycystic liver disease | HP:0040283 - Occasional | | | 63 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | PRSS1 CL E G H | 5644 | 9475 | ORPHA:676 | Hereditary chronic pancreatitis | HP:0040281 - Very frequent | | | 51 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | PRSS1 CL E G H | 5644 | 9475 | OMIM:167800 | Pancreatitis, hereditary | . | | | 51 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | PRSS2 CL E G H | 5645 | 9483 | ORPHA:676 | Hereditary chronic pancreatitis | HP:0040281 - Very frequent | | | 1 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | PRSS2 CL E G H | 5645 | 9483 | OMIM:167800 | Pancreatitis, hereditary | . | | | 1 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | PRTN3 CL E G H | 5657 | 9495 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040282 - Frequent | | | | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:79076 | Juvenile polyposis of infancy | HP:0040282 - Frequent | | | 948 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:397 | Giant cell arteritis | HP:0040283 - Occasional | | | 3 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040282 - Frequent | | | 3 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | PTPN3 CL E G H | 5774 | 9655 | ORPHA:70567 | Cholangiocarcinoma | HP:0040283 - Occasional | | | 1 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | PTPRO CL E G H | 5800 | 9678 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | RABL3 CL E G H | 285282 | 18072 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040281 - Very frequent | | | | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | RAD21 CL E G H | 5885 | 9811 | OMIM:611376 | Mungan syndrome | | | | 25 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | RARA CL E G H | 5914 | 9864 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 2 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | RBCK1 CL E G H | 10616 | 15864 | OMIM:615895 | Polyglucosan body myopathy 1 with or without immunodeficiency | | | | 10 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | REST CL E G H | 5978 | 9966 | ORPHA:654 | Nephroblastoma | HP:0040281 - Very frequent | | | 7 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | RET CL E G H | 5979 | 9967 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 572 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | RET CL E G H | 5979 | 9967 | ORPHA:388 | Hirschsprung disease | HP:0040281 - Very frequent | | | 572 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | RET CL E G H | 5979 | 9967 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | | | | 572 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | RIPK1 CL E G H | 8737 | 10019 | OMIM:618852 | AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL | | | | | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | RNF168 CL E G H | 165918 | 26661 | ORPHA:420741 | RIDDLE syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | RPS20 CL E G H | 6224 | 10405 | ORPHA:440437 | Familial colorectal cancer Type X | HP:0040281 - Very frequent | | | 1 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040281 - Very frequent | | | 125 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | RUNX1 CL E G H | 861 | 10471 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040282 - Frequent | | | 181 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | SAA1 CL E G H | 6288 | 10513 | ORPHA:85445 | AA amyloidosis | HP:0040282 - Frequent | | | 2 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | SCARB2 CL E G H | 950 | 1665 | ORPHA:77259 | Gaucher disease type 1 | HP:0040282 - Frequent | | | 77 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | SCN1B CL E G H | 6324 | 10586 | ORPHA:871 | Familial progressive cardiac conduction defect | HP:0040282 - Frequent | | | 126 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | SCN5A CL E G H | 6331 | 10593 | ORPHA:871 | Familial progressive cardiac conduction defect | HP:0040282 - Frequent | | | 1134 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 304 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | SDHAF2 CL E G H | 54949 | 26034 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 55 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:97286 | Carney-Stratakis syndrome | HP:0040282 - Frequent | | | 237 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 237 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | | | | 237 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | SDHC CL E G H | 6391 | 10682 | ORPHA:97286 | Carney-Stratakis syndrome | HP:0040282 - Frequent | | | 147 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | SDHC CL E G H | 6391 | 10682 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 147 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:100093 | Carcinoid syndrome | | | | 129 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:97286 | Carney-Stratakis syndrome | HP:0040282 - Frequent | | | 129 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 129 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | | | | 129 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | SEC63 CL E G H | 11231 | 21082 | ORPHA:2924 | Isolated polycystic liver disease | HP:0040283 - Occasional | | | 137 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | SEMA3C CL E G H | 10512 | 10725 | ORPHA:388 | Hirschsprung disease | HP:0040281 - Very frequent | | | 1 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | SEMA3D CL E G H | 223117 | 10726 | ORPHA:388 | Hirschsprung disease | HP:0040281 - Very frequent | | | 2 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | SEMA4A CL E G H | 64218 | 10729 | ORPHA:440437 | Familial colorectal cancer Type X | HP:0040281 - Very frequent | | | 48 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | SEMA4D CL E G H | 10507 | 10732 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | SERPING1 CL E G H | 710 | 1228 | OMIM:106100 | Angioedema, hereditary, 1 | . | | | 64 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | SERPING1 CL E G H | 710 | 1228 | ORPHA:100050 | Hereditary angioedema type 1 | HP:0040281 - Very frequent | | | 64 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | SI CL E G H | 6476 | 10856 | ORPHA:35122 | Congenital sucrase-isomaltase deficiency | | | | 98 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | SI CL E G H | 6476 | 10856 | OMIM:222900 | Sucrase-isomaltase deficiency, congenital | | | | 98 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | SLC12A3 CL E G H | 6559 | 10912 | OMIM:263800 | Gitelman syndrome | | | | 145 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | SLC12A3 CL E G H | 6559 | 10912 | ORPHA:358 | Gitelman syndrome | HP:0040282 - Frequent | | | 145 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | SLC25A11 CL E G H | 8402 | 10981 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | SLC25A26 CL E G H | 115286 | 20661 | OMIM:616794 | Combined oxidative phosphorylation deficiency 28 | | | | 5 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | SLC40A1 CL E G H | 30061 | 10909 | ORPHA:139491 | Hemochromatosis type 4 | HP:0040282 - Frequent | | | 56 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | SLC4A1 CL E G H | 6521 | 11027 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | HP:0040283 - Occasional | | | 109 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | SLC4A1 CL E G H | 6521 | 11027 | ORPHA:822 | Hereditary spherocytosis | HP:0040283 - Occasional | | | 109 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040281 - Very frequent | | | 504 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | SMAD4 CL E G H | 4089 | 6770 | OMIM:174900 | Juvenile polyposis syndrome | | | | 504 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | SMO CL E G H | 6608 | 11119 | ORPHA:388 | Hirschsprung disease | HP:0040281 - Very frequent | | | 22 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | SOX10 CL E G H | 6663 | 11190 | ORPHA:163746 | Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease | HP:0040281 - Very frequent | | | 61 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | SOX10 CL E G H | 6663 | 11190 | ORPHA:897 | Waardenburg-Shah syndrome | HP:0040282 - Frequent | | | 61 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | SPINK1 CL E G H | 6690 | 11244 | ORPHA:676 | Hereditary chronic pancreatitis | HP:0040281 - Very frequent | | | 34 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | SPINK1 CL E G H | 6690 | 11244 | OMIM:167800 | Pancreatitis, hereditary | . | | | 34 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | SPINK1 CL E G H | 6690 | 11244 | OMIM:608189 | Tropical calcific pancreatitis | . | | | 34 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | SPP1 CL E G H | 6696 | 11255 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040283 - Occasional | | | | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | SPTA1 CL E G H | 6708 | 11272 | ORPHA:288 | Hereditary elliptocytosis | HP:0040284 - Very rare | | | 228 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | SPTA1 CL E G H | 6708 | 11272 | ORPHA:822 | Hereditary spherocytosis | HP:0040283 - Occasional | | | 228 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | SPTB CL E G H | 6710 | 11274 | ORPHA:288 | Hereditary elliptocytosis | HP:0040284 - Very rare | | | 156 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | SPTB CL E G H | 6710 | 11274 | ORPHA:822 | Hereditary spherocytosis | HP:0040283 - Occasional | | | 156 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | SREBF1 CL E G H | 6720 | 11289 | ORPHA:388 | Hirschsprung disease | HP:0040281 - Very frequent | | | 1 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | SRP54 CL E G H | 6729 | 11301 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040282 - Frequent | | | | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040282 - Frequent | | | 1 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040283 - Occasional | | | 1 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | STAR CL E G H | 6770 | 11359 | ORPHA:361 | Familial glucocorticoid deficiency | | | | 45 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | STAT3 CL E G H | 6774 | 11364 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 110 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:117 | Behçet disease | HP:0040282 - Frequent | | | 2 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040283 - Occasional | | | 2 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | STAT5B CL E G H | 6777 | 11367 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 12 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | STK11 CL E G H | 6794 | 11389 | OMIM:175200 | Peutz-Jeghers syndrome | . | | | 740 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | STK11 CL E G H | 6794 | 11389 | ORPHA:2869 | Peutz-Jeghers syndrome | HP:0040283 - Occasional | | | 740 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | STOX1 CL E G H | 219736 | 23508 | ORPHA:275555 | Preeclampsia | HP:0040283 - Occasional | | | 2 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | SYK CL E G H | 6850 | 11491 | OMIM:619381 | IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82 | | | | 1 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | TBC1D8B CL E G H | 54885 | 24715 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | TBL1XR1 CL E G H | 79718 | 29529 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 22 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | TCF4 CL E G H | 6925 | 11634 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | 241 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040282 - Frequent | | | 82 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 238 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040282 - Frequent | | | 3 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:729 | Polycythemia vera | HP:0040281 - Very frequent | | | 3 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040283 - Occasional | | | 3 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | TGFBR2 CL E G H | 7048 | 11773 | ORPHA:144 | Lynch syndrome | HP:0040281 - Very frequent | | | 253 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | TLR4 CL E G H | 7099 | 11850 | ORPHA:117 | Behçet disease | HP:0040282 - Frequent | | | 3 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | TMEM127 CL E G H | 55654 | 26038 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 131 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | TNFRSF1A CL E G H | 7132 | 11916 | OMIM:142680 | Periodic fever, familial, autosomal dominant | | | | 131 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | TNFRSF1A CL E G H | 7132 | 11916 | ORPHA:32960 | Tumor necrosis factor receptor 1 associated periodic syndrome | HP:0040281 - Very frequent | | | 131 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 911 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040281 - Very frequent | | | 911 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | TREH CL E G H | 11181 | 12266 | OMIM:612119 | Trehalase deficiency | . | | | 2 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | TREH CL E G H | 11181 | 12266 | ORPHA:103909 | Trehalase deficiency | | | | 2 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | TRIM28 CL E G H | 10155 | 16384 | ORPHA:654 | Nephroblastoma | HP:0040281 - Very frequent | | | 2 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | TRIP13 CL E G H | 9319 | 12307 | ORPHA:654 | Nephroblastoma | HP:0040281 - Very frequent | | | 2 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | TRPC6 CL E G H | 7225 | 12338 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 107 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | TRPM4 CL E G H | 54795 | 17993 | ORPHA:871 | Familial progressive cardiac conduction defect | HP:0040282 - Frequent | | | 124 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | TSC1 CL E G H | 7248 | 12362 | ORPHA:538 | Lymphangioleiomyomatosis | HP:0040282 - Frequent | | | 1090 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | TSC2 CL E G H | 7249 | 12363 | ORPHA:538 | Lymphangioleiomyomatosis | HP:0040282 - Frequent | | | 2738 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | TXNRD2 CL E G H | 10587 | 18155 | ORPHA:361 | Familial glucocorticoid deficiency | | | | 85 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | TYMP CL E G H | 1890 | 3148 | OMIM:603041 | Mitochondrial DNA depletion syndrome 1 (mngie type) | . | | | 138 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | TYMP CL E G H | 1890 | 3148 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040281 - Very frequent | | | 138 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | UBAC2 CL E G H | 337867 | 20486 | ORPHA:117 | Behçet disease | HP:0040282 - Frequent | | | | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | UNC45A CL E G H | 55898 | 30594 | OMIM:619377 | OSTEOOTOHEPATOENTERIC SYNDROME; OOHE | | | | | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 490 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | | | | 490 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:892 | Von Hippel-Lindau disease | HP:0040283 - Occasional | | | 490 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:83469 | Desmoplastic small round cell tumor | HP:0040281 - Very frequent | | | 177 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 177 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:654 | Nephroblastoma | HP:0040281 - Very frequent | | | 177 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | ZBTB16 CL E G H | 7704 | 12930 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 1 | | |
HP:0002027 | HP:0002027 | Abdominal pain | 0 | ZNRF3 CL E G H | 84133 | 18126 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | | | |
HP:0002027 | HP:0032546 | Abdominal guarding | 1 | CL E G H | | | | | | | | | | |
HP:0002027 | HP:0033400 | Acute abdomen | 1 | CL E G H | | | | | | | | | | |
HP:0002027 | HP:0011848 | Abdominal colic | 1 | ABCB4 CL E G H | 5244 | 45 | ORPHA:69663 | Low phospholipid-associated cholelithiasis | HP:0040281 - Very frequent | | | 111 | | |
HP:0002027 | HP:0011848 | Abdominal colic | 1 | ALAD CL E G H | 210 | 395 | OMIM:612740 | Porphyria, acute hepatic | . | | | 62 | | |
HP:0002027 | HP:0011848 | Abdominal colic | 1 | APRT CL E G H | 353 | 626 | ORPHA:976 | Adenine phosphoribosyltransferase deficiency | HP:0040283 - Occasional | | | 19 | | |
HP:0002027 | HP:0032155 | Abdominal cramps | 1 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040282 - Frequent | | | 145 | | |
HP:0002027 | HP:0002574 | Episodic abdominal pain | 1 | ATRX CL E G H | 546 | 886 | ORPHA:100075 | Neuroendocrine tumor of stomach | HP:0040282 - Frequent | | | 169 | | |
HP:0002027 | HP:0032155 | Abdominal cramps | 1 | CBL CL E G H | 867 | 1541 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040282 - Frequent | | | 317 | | |
HP:0002027 | HP:0002574 | Episodic abdominal pain | 1 | CDC73 CL E G H | 79577 | 16783 | ORPHA:99880 | Hyperparathyroidism-jaw tumor syndrome | HP:0040283 - Occasional | | | 169 | | |
HP:0002027 | HP:0002574 | Episodic abdominal pain | 1 | CDC73 CL E G H | 79577 | 16783 | ORPHA:143 | Parathyroid carcinoma | HP:0040283 - Occasional | | | 169 | | |
HP:0002027 | HP:0002574 | Episodic abdominal pain | 1 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:276152 | Multiple endocrine neoplasia type 4 | HP:0040282 - Frequent | | | 102 | | |
HP:0002027 | HP:0410281 | Dyspepsia | 1 | COL4A5 CL E G H | 1287 | 2207 | ORPHA:1018 | X-linked Alport syndrome-diffuse leiomyomatosis | HP:0040282 - Frequent | | | 678 | | |
HP:0002027 | HP:0410281 | Dyspepsia | 1 | COL4A6 CL E G H | 1288 | 2208 | ORPHA:1018 | X-linked Alport syndrome-diffuse leiomyomatosis | HP:0040282 - Frequent | | | 18 | | |
HP:0002027 | HP:0002574 | Episodic abdominal pain | 1 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228305 | Carnitine palmitoyl transferase II deficiency, severe infantile form | HP:0040282 - Frequent | | | 101 | | |
HP:0002027 | HP:0002574 | Episodic abdominal pain | 1 | DAXX CL E G H | 1616 | 2681 | ORPHA:100075 | Neuroendocrine tumor of stomach | HP:0040282 - Frequent | | | | | |
HP:0002027 | HP:0011848 | Abdominal colic | 1 | DGAT1 CL E G H | 8694 | 2843 | OMIM:615863 | Diarrhea 7, protein-losing Enteropathy type | | | | 9 | | |
HP:0002027 | HP:0002574 | Episodic abdominal pain | 1 | DLST CL E G H | 1743 | 2911 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | | | |
HP:0002027 | HP:0002574 | Episodic abdominal pain | 1 | DNMT3A CL E G H | 1788 | 2978 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 44 | | |
HP:0002027 | HP:0002574 | Episodic abdominal pain | 1 | EPAS1 CL E G H | 2034 | 3374 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 112 | | |
HP:0002027 | HP:0002574 | Episodic abdominal pain | 1 | ERBB3 CL E G H | 2065 | 3431 | OMIM:243180 | Visceral neuropathy, familial, autosomal recessive | . | | | 12 | | |
HP:0002027 | HP:0002574 | Episodic abdominal pain | 1 | ESR1 CL E G H | 2099 | 3467 | ORPHA:785 | Estrogen resistance syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0002027 | HP:0002574 | Episodic abdominal pain | 1 | F12 CL E G H | 2161 | 3530 | OMIM:610618 | ANGIOEDEMA, HEREDITARY, TYPE III; HAE3 | | | | 28 | | |
HP:0002027 | HP:0002574 | Episodic abdominal pain | 1 | FH CL E G H | 2271 | 3700 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 301 | | |
HP:0002027 | HP:0002574 | Episodic abdominal pain | 1 | FLI1 CL E G H | 2313 | 3749 | ORPHA:370348 | Peripheral primitive neuroectodermal tumor | HP:0040283 - Occasional | | | 8 | | |
HP:0002027 | HP:0002574 | Episodic abdominal pain | 1 | GNE CL E G H | 10020 | 23657 | ORPHA:3166 | Sialuria | HP:0040281 - Very frequent | | | 173 | | |
HP:0002027 | HP:0002574 | Episodic abdominal pain | 1 | HEXB CL E G H | 3074 | 4879 | OMIM:268800 | Sandhoff disease | . | | | 80 | | |
HP:0002027 | HP:0002574 | Episodic abdominal pain | 1 | KIF1B CL E G H | 23095 | 16636 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 202 | | |
HP:0002027 | HP:0002574 | Episodic abdominal pain | 1 | LPL CL E G H | 4023 | 6677 | OMIM:238600 | Type I hyperlipoproteinemia | . | | | 106 | | |
HP:0002027 | HP:0002574 | Episodic abdominal pain | 1 | MAX CL E G H | 4149 | 6913 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 84 | | |
HP:0002027 | HP:0002574 | Episodic abdominal pain | 1 | MC2R CL E G H | 4158 | 6930 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040282 - Frequent | | | 94 | | |
HP:0002027 | HP:0002574 | Episodic abdominal pain | 1 | MDH2 CL E G H | 4191 | 6971 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 4 | | |
HP:0002027 | HP:0002574 | Episodic abdominal pain | 1 | MEFV CL E G H | 4210 | 6998 | OMIM:249100 | Familial Mediterranean fever, AR | | | | 281 | | |
HP:0002027 | HP:0002574 | Episodic abdominal pain | 1 | MRAP CL E G H | 56246 | 1304 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040282 - Frequent | | | 26 | | |
HP:0002027 | HP:0002574 | Episodic abdominal pain | 1 | NF1 CL E G H | 4763 | 7765 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 1952 | | |
HP:0002027 | HP:0002574 | Episodic abdominal pain | 1 | NNT CL E G H | 23530 | 7863 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040282 - Frequent | | | 13 | | |
HP:0002027 | HP:0002574 | Episodic abdominal pain | 1 | PIGA CL E G H | 5277 | 8957 | ORPHA:447 | Paroxysmal nocturnal hemoglobinuria | HP:0040282 - Frequent | | | 46 | | |
HP:0002027 | HP:0032545 | Abdominal rigidity | 1 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:53035 | Caroli disease | HP:0040283 - Occasional | | | 563 | | |
HP:0002027 | HP:0002574 | Episodic abdominal pain | 1 | PNPT1 CL E G H | 87178 | 23166 | ORPHA:101111 | Spinocerebellar ataxia type 25 | HP:0040283 - Occasional | | | 60 | | |
HP:0002027 | HP:0032155 | Abdominal cramps | 1 | POLG CL E G H | 5428 | 9179 | OMIM:603041 | Mitochondrial DNA depletion syndrome 1 (mngie type) | | | | 464 | | |
HP:0002027 | HP:0002574 | Episodic abdominal pain | 1 | RET CL E G H | 5979 | 9967 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 572 | | |
HP:0002027 | HP:0002574 | Episodic abdominal pain | 1 | RET CL E G H | 5979 | 9967 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 572 | | |
HP:0002027 | HP:0032155 | Abdominal cramps | 1 | RUNX1 CL E G H | 861 | 10471 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040282 - Frequent | | | 181 | | |
HP:0002027 | HP:0002574 | Episodic abdominal pain | 1 | SDHA CL E G H | 6389 | 10680 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 304 | | |
HP:0002027 | HP:0002574 | Episodic abdominal pain | 1 | SDHAF2 CL E G H | 54949 | 26034 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 55 | | |
HP:0002027 | HP:0002574 | Episodic abdominal pain | 1 | SDHB CL E G H | 6390 | 10681 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 237 | | |
HP:0002027 | HP:0002574 | Episodic abdominal pain | 1 | SDHB CL E G H | 6390 | 10681 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 237 | | |
HP:0002027 | HP:0002574 | Episodic abdominal pain | 1 | SDHC CL E G H | 6391 | 10682 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 147 | | |
HP:0002027 | HP:0002574 | Episodic abdominal pain | 1 | SDHD CL E G H | 6392 | 10683 | ORPHA:100093 | Carcinoid syndrome | HP:0040282 - Frequent | | | 129 | | |
HP:0002027 | HP:0002574 | Episodic abdominal pain | 1 | SDHD CL E G H | 6392 | 10683 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 129 | | |
HP:0002027 | HP:0002574 | Episodic abdominal pain | 1 | SDHD CL E G H | 6392 | 10683 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 129 | | |
HP:0002027 | HP:0011848 | Abdominal colic | 1 | SI CL E G H | 6476 | 10856 | ORPHA:35122 | Congenital sucrase-isomaltase deficiency | HP:0040283 - Occasional | | | 98 | | |
HP:0002027 | HP:0002574 | Episodic abdominal pain | 1 | SLC25A11 CL E G H | 8402 | 10981 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | | | |
HP:0002027 | HP:0032155 | Abdominal cramps | 1 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040282 - Frequent | | | 1 | | |
HP:0002027 | HP:0002574 | Episodic abdominal pain | 1 | STAR CL E G H | 6770 | 11359 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040282 - Frequent | | | 45 | | |
HP:0002027 | HP:0032155 | Abdominal cramps | 1 | TET2 CL E G H | 54790 | 25941 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040282 - Frequent | | | 3 | | |
HP:0002027 | HP:0002574 | Episodic abdominal pain | 1 | TMEM127 CL E G H | 55654 | 26038 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 131 | | |
HP:0002027 | HP:0002574 | Episodic abdominal pain | 1 | TXNRD2 CL E G H | 10587 | 18155 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040282 - Frequent | | | 85 | | |
HP:0002027 | HP:0032155 | Abdominal cramps | 1 | TYMP CL E G H | 1890 | 3148 | OMIM:603041 | Mitochondrial DNA depletion syndrome 1 (mngie type) | | | | 138 | | |
HP:0002027 | HP:0002574 | Episodic abdominal pain | 1 | VHL CL E G H | 7428 | 12687 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 490 | | |
HP:0002027 | HP:0002574 | Episodic abdominal pain | 1 | VHL CL E G H | 7428 | 12687 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 490 | | |