Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ABCA1 CL E G H | 19 | 29 | ORPHA:31150 | Tangier disease | | | | 191 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ABCA1 CL E G H | 19 | 29 | OMIM:205400 | Tangier disease | | | | 191 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ABCB11 CL E G H | 8647 | 42 | OMIM:605479 | Cholestasis, benign recurrent intrahepatic, 2 | | | | 146 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ABCB11 CL E G H | 8647 | 42 | OMIM:601847 | Cholestasis, progressive familial intrahepatic 2 | | | | 146 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ABCB4 CL E G H | 5244 | 45 | OMIM:602347 | Cholestasis, progressive familial intrahepatic, 3 | | | | 111 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ABCC2 CL E G H | 1244 | 53 | ORPHA:234 | Dubin-Johnson syndrome | | | | 119 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ABCC8 CL E G H | 6833 | 59 | ORPHA:276575 | Autosomal dominant hyperinsulinism due to SUR1 deficiency | | | | 245 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ABCD3 CL E G H | 5825 | 67 | OMIM:616278 | BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5 | | | | 5 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ABCG8 CL E G H | 64241 | 13887 | OMIM:210250 | Sitosterolemia 1 | | | | 76 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ABHD5 CL E G H | 51099 | 21396 | OMIM:275630 | Chanarin-Dorfman syndrome | | | | 90 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ABHD5 CL E G H | 51099 | 21396 | ORPHA:98907 | Neutral lipid storage disease with ichthyosis | | | | 90 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ABL1 CL E G H | 25 | 76 | ORPHA:521 | Chronic myeloid leukemia | | | | 51 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ACADM CL E G H | 34 | 89 | OMIM:201450 | Acyl-Coa dehydrogenase, medium-chain, deficiency of | | | | 197 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ACADM CL E G H | 34 | 89 | ORPHA:42 | Medium chain acyl-CoA dehydrogenase deficiency | | | | 197 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ACADVL CL E G H | 37 | 92 | ORPHA:26793 | Very long chain acyl-CoA dehydrogenase deficiency | | | | 200 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ACADVL CL E G H | 37 | 92 | OMIM:201475 | Very long-chain acyl-CoA dehydrogenase deficiency | | | | 200 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ACAT1 CL E G H | 38 | 93 | ORPHA:134 | Beta-ketothiolase deficiency | | | | 91 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ACOX1 CL E G H | 51 | 119 | ORPHA:2971 | Peroxisomal acyl-CoA oxidase deficiency | | | | 120 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ACOX1 CL E G H | 51 | 119 | OMIM:264470 | Peroxisomal acyl-coa oxidase deficiency | | | | 120 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ADA CL E G H | 100 | 186 | ORPHA:39041 | Omenn syndrome | | | | 75 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ADA CL E G H | 100 | 186 | OMIM:102700 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | | | | 75 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ADA2 CL E G H | 51816 | 1839 | OMIM:615688 | Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome | | | | 22 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ADAMTS3 CL E G H | 9508 | 219 | ORPHA:2136 | Hennekam syndrome | | | | 1 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ADAMTSL2 CL E G H | 9719 | 14631 | OMIM:231050 | Geleophysic dysplasia 1 | | | | 72 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 116 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ADAR CL E G H | 103 | 225 | OMIM:615010 | Aicardi-Goutieres syndrome 6 | | | | 116 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | AFF4 CL E G H | 27125 | 17869 | OMIM:616368 | CHOPS syndrome | | | | 6 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | AGA CL E G H | 175 | 318 | ORPHA:93 | Aspartylglucosaminuria | | | | 76 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | AGA CL E G H | 175 | 318 | OMIM:208400 | ASPARTYLGLUCOSAMINURIA | | | | 76 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | AGGF1 CL E G H | 55109 | 24684 | ORPHA:90308 | Klippel-Trénaunay syndrome | | | | 1 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | AGL CL E G H | 178 | 321 | OMIM:232400 | Glycogen storage disease III | | | | 216 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | AGPAT2 CL E G H | 10555 | 325 | ORPHA:528 | Congenital generalized lipodystrophy | | | | 85 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | AGPAT2 CL E G H | 10555 | 325 | OMIM:608594 | Lipodystrophy, congenital generalized, type 1 | | | | 85 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | AKR1D1 CL E G H | 6718 | 388 | OMIM:235555 | Bile acid synthesis defect, congenital, 2 | | | | 62 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | AKR1D1 CL E G H | 6718 | 388 | ORPHA:79303 | Congenital bile acid synthesis defect type 2 | | | | 62 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | | | | 54 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | AKT1 CL E G H | 207 | 391 | OMIM:176920 | Proteus syndrome, somatic | | | | 54 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | AKT2 CL E G H | 208 | 392 | ORPHA:79085 | AKT2-related familial partial lipodystrophy | | | | 12 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ALAS2 CL E G H | 212 | 397 | ORPHA:75563 | X-linked sideroblastic anemia | | | | 72 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ALDH1A2 CL E G H | 8854 | 15472 | OMIM:620025 | | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ALDOA CL E G H | 226 | 414 | OMIM:611881 | Glycogen storage disease XII | | | | 50 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ALDOB CL E G H | 229 | 417 | OMIM:229600 | Fructose intolerance, hereditary | | | | 73 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ALDOB CL E G H | 229 | 417 | ORPHA:469 | Hereditary fructose intolerance | | | | 73 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ALG1 CL E G H | 56052 | 18294 | OMIM:608540 | Congenital disorder of glycosylation, type Ik | | | | 58 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ALG13 CL E G H | 79868 | 30881 | OMIM:300884 | Epileptic encephalopathy, early infantile, 36 | | | | 96 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ALG2 CL E G H | 85365 | 23159 | ORPHA:79326 | ALG2-CDG | | | | 46 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ALG2 CL E G H | 85365 | 23159 | OMIM:607906 | Congenital disorder of glycosylation, type Ii | | | | 46 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ALG8 CL E G H | 79053 | 23161 | OMIM:608104 | Congenital disorder of glycosylation, type Ih | | | | 46 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ALG9 CL E G H | 79796 | 15672 | ORPHA:79328 | ALG9-CDG | | | | 93 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ALG9 CL E G H | 79796 | 15672 | OMIM:608776 | Congenital disorder of glycosylation, type Il | | | | 93 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | | | | 404 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ALMS1 CL E G H | 7840 | 428 | OMIM:203800 | Alstrom syndrome | | | | 404 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ALPK1 CL E G H | 80216 | 20917 | OMIM:614979 | Splenomegaly, cytopenia, and vision loss | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | AMACR CL E G H | 23600 | 451 | OMIM:214950 | Bile acid synthesis defect, congenital, 4 | | | | 44 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ANK1 CL E G H | 286 | 492 | ORPHA:251066 | 8p11.2 deletion syndrome | | | | 150 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ANK1 CL E G H | 286 | 492 | ORPHA:822 | Hereditary spherocytosis | | | | 150 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ANK1 CL E G H | 286 | 492 | OMIM:182900 | Spherocytosis, type 1 | | | | 150 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ANKRD55 CL E G H | 79722 | 25681 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ANTXR1 CL E G H | 84168 | 21014 | OMIM:230740 | Gapo syndrome | | | | 8 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | AP3D1 CL E G H | 8943 | 568 | OMIM:617050 | HERMANSKY-PUDLAK SYNDROME 10; HPS10 | | | | 1 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | APOA1 CL E G H | 335 | 600 | OMIM:105200 | Amyloidosis, familial visceral | | | | 40 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | APOC2 CL E G H | 344 | 609 | OMIM:207750 | APOLIPOPROTEIN C-II DEFICIENCY | | | | 27 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | APOE CL E G H | 348 | 613 | ORPHA:412 | Dysbetalipoproteinemia | | | | 39 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | APOE CL E G H | 348 | 613 | OMIM:269600 | Sea-Blue histiocyte disease | | | | 39 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | APOE CL E G H | 348 | 613 | ORPHA:158029 | Sea-blue histiocytosis | | | | 39 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ARG1 CL E G H | 383 | 663 | OMIM:207800 | Argininemia | | | | 31 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ARL13B CL E G H | 200894 | 25419 | OMIM:612291 | JOUBERT SYNDROME 8; JBTS8 | | | | 62 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ARSB CL E G H | 411 | 714 | OMIM:253200 | Mucopolysaccharidosis, type VI | | | | 120 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 1 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ASAH1 CL E G H | 427 | 735 | ORPHA:333 | Farber disease | | | | 78 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ASAH1 CL E G H | 427 | 735 | OMIM:228000 | Farber lipogranulomatosis | | | | 78 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ASL CL E G H | 435 | 746 | OMIM:207900 | Argininosuccinic aciduria | | | | 81 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ASS1 CL E G H | 445 | 758 | OMIM:215700 | Citrullinemia, classic | | | | 119 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98850 | Aggressive systemic mastocytosis | | | | 145 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | | | | 145 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ATAD3A CL E G H | 55210 | 25567 | OMIM:618810 | PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL | | | | 5 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ATM CL E G H | 472 | 795 | ORPHA:52416 | Mantle cell lymphoma | | | | 3267 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ATP6AP1 CL E G H | 537 | 868 | OMIM:300972 | IMMUNODEFICIENCY 47; IMD47 | | | | 5 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:301045 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R | | | | 36 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:3473 | Zimmermann-Laband syndrome | | | | 5 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ATP7B CL E G H | 540 | 870 | ORPHA:905 | Wilson disease | | | | 315 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | | | | 315 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ATP8B1 CL E G H | 5205 | 3706 | OMIM:243300 | Cholestasis, benign recurrent intrahepatic 1 | | | | 144 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ATP8B1 CL E G H | 5205 | 3706 | OMIM:211600 | Cholestasis, progressive familial intrahepatic 1 | | | | 144 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ATPAF2 CL E G H | 91647 | 18802 | OMIM:604273 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 1 | | | | 32 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ATRX CL E G H | 546 | 886 | ORPHA:231401 | Alpha-thalassemia-myelodysplastic syndrome | | | | 169 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ATRX CL E G H | 546 | 886 | ORPHA:100075 | Neuroendocrine tumor of stomach | | | | 169 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | AUH CL E G H | 549 | 890 | ORPHA:67046 | 3-methylglutaconic aciduria type 1 | | | | 49 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | B2M CL E G H | 567 | 914 | OMIM:105200 | Amyloidosis, familial visceral | | | | 8 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | B4GALT1 CL E G H | 2683 | 924 | ORPHA:79332 | B4GALT1-CDG | | | | 85 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | BAAT CL E G H | 570 | 932 | OMIM:619232 | BILE ACID CONJUGATION DEFECT 1; BACD1 | | | | 63 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | BACH2 CL E G H | 60468 | 14078 | OMIM:618394 | IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60 | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | BAP1 CL E G H | 8314 | 950 | ORPHA:50251 | Pleural mesothelioma | | | | 184 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | BCL11A CL E G H | 53335 | 13221 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 11 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | BCL2 CL E G H | 596 | 990 | ORPHA:545 | Follicular lymphoma | | | | 1 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | BCL6 CL E G H | 604 | 1001 | ORPHA:545 | Follicular lymphoma | | | | 1 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | BCR CL E G H | 613 | 1014 | ORPHA:521 | Chronic myeloid leukemia | | | | 5 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | BMP2 CL E G H | 650 | 1069 | OMIM:235200 | Hemochromatosis, type 1 | | | | 13 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | BMP6 CL E G H | 654 | 1073 | ORPHA:465508 | Symptomatic form of hemochromatosis type 1 | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | BOLA3 CL E G H | 388962 | 24415 | OMIM:614299 | Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia | | | | 14 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | | | | 276 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 5769 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 7642 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:528 | Congenital generalized lipodystrophy | | | | 105 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | BSCL2 CL E G H | 26580 | 15832 | OMIM:615924 | Encephalopathy, progressive, with or without lipodystrophy | | | | 105 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | BSCL2 CL E G H | 26580 | 15832 | OMIM:269700 | Lipodystrophy, congenital generalized, type 2 | | | | 105 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:363400 | Severe neurodegenerative syndrome with lipodystrophy | | | | 105 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | BTD CL E G H | 686 | 1122 | OMIM:253260 | Biotinidase deficiencymultiple carboxylase deficiency, late-onset | | | | 223 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | | | | 1 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | BTNL2 CL E G H | 56244 | 1142 | OMIM:612387 | Sarcoidosis, susceptibility to, 2 | | | | 1 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | C1QBP CL E G H | 708 | 1243 | OMIM:617713 | Combined oxidative phosphorylation deficiency 33 | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | C2ORF69 CL E G H | 205327 | 26799 | OMIM:619423 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53 | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | C4A CL E G H | 720 | 1323 | ORPHA:117 | Behçet disease | | | | 1 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CA2 CL E G H | 760 | 1373 | ORPHA:2785 | Osteopetrosis with renal tubular acidosis | | | | 29 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CA2 CL E G H | 760 | 1373 | OMIM:259730 | Osteopetrosis, autosomal recessive 3 | | | | 29 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CALR CL E G H | 811 | 1455 | ORPHA:131 | Budd-Chiari syndrome | | | | 1 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CALR CL E G H | 811 | 1455 | ORPHA:3318 | Essential thrombocythemia | | | | 1 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CALR CL E G H | 811 | 1455 | OMIM:254450 | Myelofibrosismyelofibrosis with myeloid metaplasia, included | | | | 1 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CALR CL E G H | 811 | 1455 | ORPHA:824 | Primary myelofibrosis | | | | 1 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CALR CL E G H | 811 | 1455 | OMIM:187950 | THROMBOCYTHEMIA 1; THCYT1 | | | | 1 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CARD11 CL E G H | 84433 | 16393 | OMIM:616452 | B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA | | | | 45 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CASK CL E G H | 8573 | 1497 | OMIM:300908 | Anemia, nonspherocytic hemolytic, due to g6pd deficiency | | | | 118 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 87 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CASP10 CL E G H | 843 | 1500 | OMIM:603909 | Autoimmune lymphoproliferative syndrome, type IIA | | | | 87 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CASP8 CL E G H | 841 | 1509 | OMIM:607271 | CASPASE 8 DEFICIENCY | | | | 37 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CASR CL E G H | 846 | 1514 | OMIM:239200 | Hyperparathyroidism, neonatal severe | | | | 272 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CASR CL E G H | 846 | 1514 | ORPHA:417 | Neonatal severe primary hyperparathyroidism | | | | 272 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CAV1 CL E G H | 857 | 1527 | ORPHA:528 | Congenital generalized lipodystrophy | | | | 11 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CAV1 CL E G H | 857 | 1527 | OMIM:612526 | Lipodystrophy, congenital generalized, type 3 | | | | 11 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CAVIN1 CL E G H | 284119 | 9688 | ORPHA:528 | Congenital generalized lipodystrophy | | | | 48 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CAVIN1 CL E G H | 284119 | 9688 | OMIM:613327 | Lipodystrophy, congenital generalized, type 4 | | | | 48 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CBL CL E G H | 867 | 1541 | ORPHA:98850 | Aggressive systemic mastocytosis | | | | 317 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CBL CL E G H | 867 | 1541 | ORPHA:648 | Noonan syndrome | | | | 317 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CBS CL E G H | 875 | 1550 | ORPHA:394 | Classic homocystinuria | | | | 242 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 247 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CCBE1 CL E G H | 147372 | 29426 | ORPHA:2136 | Hennekam syndrome | | | | 147 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CCDC115 CL E G H | 84317 | 28178 | OMIM:616828 | Congenital disorder of glycosylation, type IIO | | | | 3 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CCDC47 CL E G H | 57003 | 24856 | OMIM:618268 | Trichohepatoneurodevelopmental syndrome | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CCND1 CL E G H | 595 | 1582 | ORPHA:52416 | Mantle cell lymphoma | | | | 1 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CCND1 CL E G H | 595 | 1582 | ORPHA:29073 | Multiple myeloma | | | | 1 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CCR1 CL E G H | 1230 | 1602 | ORPHA:117 | Behçet disease | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CD19 CL E G H | 930 | 1633 | ORPHA:1572 | Common variable immunodeficiency | | | | 38 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CD19 CL E G H | 930 | 1633 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 38 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CD247 CL E G H | 919 | 1677 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | 8 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CD247 CL E G H | 919 | 1677 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 8 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CD27 CL E G H | 939 | 11922 | OMIM:615122 | Lymphoproliferative syndrome 2 | | | | 4 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CD28 CL E G H | 940 | 1653 | ORPHA:2584 | Classic mycosis fungoides | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CD28 CL E G H | 940 | 1653 | ORPHA:3162 | Sézary syndrome | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CD3D CL E G H | 915 | 1673 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 18 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CD3E CL E G H | 916 | 1674 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 24 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CD40LG CL E G H | 959 | 11935 | OMIM:308230 | Immunodeficiency, X-linked, with hyper-IgM | | | | 33 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CD55 CL E G H | 1604 | 2665 | OMIM:226300 | Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy | | | | 9 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CD70 CL E G H | 970 | 11937 | OMIM:618261 | LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3 | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CD81 CL E G H | 975 | 1701 | ORPHA:1572 | Common variable immunodeficiency | | | | 1 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CD81 CL E G H | 975 | 1701 | OMIM:613496 | Immunodeficiency, common variable, 6 | | | | 1 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CD96 CL E G H | 10225 | 16892 | OMIM:211750 | C syndrome | | | | 83 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CDAN1 CL E G H | 146059 | 1713 | OMIM:224120 | Anemia, congenital dyserythropoietic, type Ia | | | | 86 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CDIN1 CL E G H | 84529 | 26929 | OMIM:615631 | Anemia, congenital dyserythropoietic, type Ib | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CDKN1C CL E G H | 1028 | 1786 | OMIM:130650 | Beckwith-Wiedemann syndrome | | | | 114 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 289 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CFAP410 CL E G H | 755 | 1260 | OMIM:602271 | Spondylometaphyseal dysplasia, axial | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CFTR CL E G H | 1080 | 1884 | OMIM:219700 | Cystic fibrosis | | | | 1371 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:39041 | Omenn syndrome | | | | 515 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CIDEC CL E G H | 63924 | 24229 | ORPHA:435651 | CIDEC-related familial partial lipodystrophy | | | | 8 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CIDEC CL E G H | 63924 | 24229 | OMIM:615238 | Lipodystrophy, familial partial, type 5 | | | | 8 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CLCN7 CL E G H | 1186 | 2025 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | | | | 102 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CLCN7 CL E G H | 1186 | 2025 | OMIM:618541 | Hypopigmentation, organomegaly, and delayed myelination and development | | | | 102 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CLCN7 CL E G H | 1186 | 2025 | ORPHA:210110 | Intermediate osteopetrosis | | | | 102 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CLCN7 CL E G H | 1186 | 2025 | OMIM:611490 | Osteopetrosis, autosomal recessive 4 | | | | 102 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CLDN1 CL E G H | 9076 | 2032 | OMIM:607626 | Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis | | | | 11 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CLDN1 CL E G H | 9076 | 2032 | ORPHA:59303 | Neonatal ichthyosis-sclerosing cholangitis syndrome | | | | 11 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CLPB CL E G H | 81570 | 30664 | OMIM:619813 | NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT; SCN9 | | | | 38 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CNTNAP2 CL E G H | 26047 | 13830 | ORPHA:163681 | CNTNAP2-related developmental and epileptic encephalopathy | | | | 518 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | COA8 CL E G H | 84334 | 20492 | ORPHA:436271 | Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | COG1 CL E G H | 9382 | 6545 | ORPHA:263508 | COG1-CDG | | | | 52 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | COG4 CL E G H | 25839 | 18620 | ORPHA:263501 | COG4-CDG | | | | 67 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | COG4 CL E G H | 25839 | 18620 | OMIM:613489 | Congenital disorder of glycosylation, type IIj | | | | 67 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | COG5 CL E G H | 10466 | 14857 | ORPHA:263487 | COG5-CDG | | | | 79 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | COG6 CL E G H | 57511 | 18621 | OMIM:614576 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L | | | | 71 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | COG7 CL E G H | 91949 | 18622 | ORPHA:79333 | COG7-CDG | | | | 64 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | COG7 CL E G H | 91949 | 18622 | OMIM:608779 | Congenital disorder of glycosylation, type IIe | | | | 64 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 6 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | COX10 CL E G H | 1352 | 2260 | OMIM:619046 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3 | | | | 82 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | COX14 CL E G H | 84987 | 28216 | OMIM:619053 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10 | | | | 4 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | COX4I2 CL E G H | 84701 | 16232 | OMIM:612714 | Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis | | | | 13 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | COX5A CL E G H | 9377 | 2267 | OMIM:619064 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20 | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CPOX CL E G H | 1371 | 2321 | OMIM:121300 | Coproporphyria | | | | 72 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CPOX CL E G H | 1371 | 2321 | OMIM:618892 | Harderoporphyria | | | | 72 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CPT1A CL E G H | 1374 | 2328 | ORPHA:156 | Carnitine palmitoyl transferase 1A deficiency | | | | 99 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CPT1A CL E G H | 1374 | 2328 | OMIM:255120 | Carnitine palmitoyltransferase I deficiency | | | | 99 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228308 | Carnitine palmitoyl transferase II deficiency, neonatal form | | | | 101 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228305 | Carnitine palmitoyl transferase II deficiency, severe infantile form | | | | 101 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CPT2 CL E G H | 1376 | 2330 | OMIM:600649 | Carnitine palmitoyltransferase II deficiency, infantile | | | | 101 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CPT2 CL E G H | 1376 | 2330 | OMIM:608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | | | | 101 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CR2 CL E G H | 1380 | 2336 | ORPHA:1572 | Common variable immunodeficiency | | | | 10 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CR2 CL E G H | 1380 | 2336 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 10 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CR2 CL E G H | 1380 | 2336 | OMIM:614699 | IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7 | | | | 10 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CSF3R CL E G H | 1441 | 2439 | OMIM:162830 | Neutrophilia, hereditary | | | | 34 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CTC1 CL E G H | 80169 | 26169 | ORPHA:1775 | Dyskeratosis congenita | | | | 160 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CTLA4 CL E G H | 1493 | 2505 | OMIM:616100 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5 | | | | 10 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:2584 | Classic mycosis fungoides | | | | 10 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:3162 | Sézary syndrome | | | | 10 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:33402 | Pediatric hepatocellular carcinoma | | | | 88 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | | | | 178 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CTSA CL E G H | 5476 | 9251 | OMIM:256540 | Galactosialidosis | | | | 51 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CTSK CL E G H | 1513 | 2536 | ORPHA:763 | Pycnodysostosis | | | | 39 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CYBA CL E G H | 1535 | 2577 | ORPHA:379 | Chronic granulomatous disease | | | | 27 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CYBA CL E G H | 1535 | 2577 | OMIM:233690 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE | | | | 27 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CYBB CL E G H | 1536 | 2578 | ORPHA:379 | Chronic granulomatous disease | | | | 111 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CYBB CL E G H | 1536 | 2578 | OMIM:306400 | Chronic granulomatous disease, X-linked | | | | 111 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CYBC1 CL E G H | 79415 | 28672 | ORPHA:379 | Chronic granulomatous disease | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CYBC1 CL E G H | 79415 | 28672 | OMIM:618935 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5 | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CYP7B1 CL E G H | 9420 | 2652 | OMIM:613812 | Bile acid synthesis defect, congenital, 3 | | | | 57 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CYP7B1 CL E G H | 9420 | 2652 | ORPHA:79302 | Congenital bile acid synthesis defect type 3 | | | | 57 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | CYTB CL E G H | 4519 | 7427 | ORPHA:137675 | Histiocytoid cardiomyopathy | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | DAXX CL E G H | 1616 | 2681 | ORPHA:100075 | Neuroendocrine tumor of stomach | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | DCDC2 CL E G H | 51473 | 18141 | OMIM:616217 | Nephronophthisis 19 | | | | 8 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | DCDC2 CL E G H | 51473 | 18141 | OMIM:617394 | Sclerosing cholangitis, neonatal | | | | 8 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | DCDC2 CL E G H | 51473 | 18141 | ORPHA:84081 | Senior-Boichis syndrome | | | | 8 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:39041 | Omenn syndrome | | | | 94 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:603554 | Omenn syndrome | | | | 94 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:602450 | Severe combined immunodeficiency with sensitivity to ionizing radiation | | | | 94 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | DDRGK1 CL E G H | 65992 | 16110 | OMIM:602557 | Spondyloepimetaphyseal dysplasia, Shohat type | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | DDRGK1 CL E G H | 65992 | 16110 | ORPHA:93352 | Spondyloepimetaphyseal dysplasia, Shohat type | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | DGUOK CL E G H | 1716 | 2858 | OMIM:251880 | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | | | | 57 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | DGUOK CL E G H | 1716 | 2858 | OMIM:617068 | Portal hypertension, noncirrhotic | | | | 57 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | DHCR24 CL E G H | 1718 | 2859 | ORPHA:35107 | Desmosterolosis | | | | 72 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | DHDDS CL E G H | 79947 | 20603 | OMIM:613861 | Retinitis pigmentosa 59 | | | | 47 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | DHFR CL E G H | 1719 | 2861 | OMIM:613839 | Megaloblastic anemia due to dihydrofolate reductase deficiency | | | | 7 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | DIS3L2 CL E G H | 129563 | 28648 | OMIM:267000 | Perlman syndrome | . | | | 164 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | DIS3L2 CL E G H | 129563 | 28648 | ORPHA:2849 | Perlman syndrome | | | | 164 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | DKC1 CL E G H | 1736 | 2890 | ORPHA:1775 | Dyskeratosis congenita | | | | 65 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | DLD CL E G H | 1738 | 2898 | OMIM:246900 | Dihydrolipoamide dehydrogenase deficiency | | | | 89 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | DLD CL E G H | 1738 | 2898 | ORPHA:2394 | Pyruvate dehydrogenase E3 deficiency | | | | 89 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | DLL4 CL E G H | 54567 | 2910 | OMIM:616589 | Adams-Oliver syndrome 6 | | | | 9 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | DNAJC21 CL E G H | 134218 | 27030 | ORPHA:811 | Shwachman-Diamond syndrome | | | | 5 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | DNAJC21 CL E G H | 134218 | 27030 | OMIM:260400 | Shwachman-Diamond syndrome 1 | | | | 5 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | DNASE1L3 CL E G H | 1776 | 2959 | ORPHA:36412 | Hypocomplementemic urticarial vasculitis | | | | 3 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | DNASE2 CL E G H | 1777 | 2960 | OMIM:619858 | | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | DOCK2 CL E G H | 1794 | 2988 | OMIM:616433 | Immunodeficiency 40 | | | | 6 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:86309 | DPAGT1-CDG | | | | 38 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | DPM1 CL E G H | 8813 | 3005 | OMIM:608799 | Congenital disorder of glycosylation, type IE | | | | 27 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | DPM1 CL E G H | 8813 | 3005 | ORPHA:79322 | DPM1-CDG | | | | 27 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | DPM2 CL E G H | 8818 | 3006 | ORPHA:329178 | Congenital muscular dystrophy with intellectual disability and severe epilepsy | | | | 26 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | DYNC2LI1 CL E G H | 51626 | 24595 | OMIM:617088 | Short-rib thoracic dysplasia 15 with polydactyly | | | | 7 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | DZIP1L CL E G H | 199221 | 26551 | ORPHA:731 | Autosomal recessive polycystic kidney disease | | | | 4 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | DZIP1L CL E G H | 199221 | 26551 | OMIM:617610 | Polycystic kidney disease 5 | | | | 4 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | EARS2 CL E G H | 124454 | 29419 | OMIM:614924 | Combined oxidative phosphorylation deficiency 12 | | | | 80 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | EFL1 CL E G H | 79631 | 25789 | ORPHA:811 | Shwachman-Diamond syndrome | | | | 1 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | EFL1 CL E G H | 79631 | 25789 | OMIM:617941 | Shwachman-Diamond syndrome 2 | | | | 1 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | EIF2AK3 CL E G H | 9451 | 3255 | OMIM:226980 | Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus | | | | 65 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | | | | 65 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | EPB41 CL E G H | 2035 | 3377 | OMIM:611804 | Elliptocytosis 1 | | | | 6 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | EPB41 CL E G H | 2035 | 3377 | ORPHA:288 | Hereditary elliptocytosis | | | | 6 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | EPB42 CL E G H | 2038 | 3381 | ORPHA:822 | Hereditary spherocytosis | | | | 51 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | EPB42 CL E G H | 2038 | 3381 | OMIM:612690 | SPHEROCYTOSIS, TYPE 5; SPH5 | | | | 51 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ERAP1 CL E G H | 51752 | 18173 | ORPHA:117 | Behçet disease | | | | 1 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ERBB3 CL E G H | 2065 | 3431 | OMIM:133180 | Erythroleukemia, familial, susceptibility to | | | | 12 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ERCC1 CL E G H | 2067 | 3433 | ORPHA:90322 | Cockayne syndrome type 2 | | | | 20 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:90321 | Cockayne syndrome type 1 | | | | 158 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90321 | Cockayne syndrome type 1 | | | | 199 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90322 | Cockayne syndrome type 2 | | | | 199 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90324 | Cockayne syndrome type 3 | | | | 199 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:133540 | Cockayne syndrome, type B | | | | 199 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ERCC8 CL E G H | 1161 | 3439 | OMIM:216400 | Cockayne syndrome A | | | | 55 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90321 | Cockayne syndrome type 1 | | | | 55 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90322 | Cockayne syndrome type 2 | | | | 55 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90324 | Cockayne syndrome type 3 | | | | 55 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ETFA CL E G H | 2108 | 3481 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | | | | 37 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ETFB CL E G H | 2109 | 3482 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | | | | 27 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ETFDH CL E G H | 2110 | 3483 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | | | | 77 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | EWSR1 CL E G H | 2130 | 3508 | ORPHA:83469 | Desmoplastic small round cell tumor | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | | | | 3 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | F5 CL E G H | 2153 | 3542 | ORPHA:131 | Budd-Chiari syndrome | | | | 159 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | FAH CL E G H | 2184 | 3579 | ORPHA:882 | Tyrosinemia type 1 | | | | 107 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | FAH CL E G H | 2184 | 3579 | OMIM:276700 | Tyrosinemia, type I | | | | 107 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | FAM111B CL E G H | 374393 | 24200 | OMIM:615704 | Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis | | | | 6 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | FARSA CL E G H | 2193 | 3592 | OMIM:619013 | RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2 | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | FAS CL E G H | 355 | 11920 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | FAS CL E G H | 355 | 11920 | ORPHA:117 | Behçet disease | | | | 59 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | FASLG CL E G H | 356 | 11936 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | FAT4 CL E G H | 79633 | 23109 | ORPHA:2136 | Hennekam syndrome | | | | 114 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:614185 | GELEOPHYSIC DYSPLASIA 2; GPHYSD2 | | | | 1361 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | FBP1 CL E G H | 2203 | 3606 | ORPHA:348 | Fructose-1,6-bisphosphatase deficiency | | | | 64 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | FBP1 CL E G H | 2203 | 3606 | OMIM:229700 | Fructose-1,6-Bisphosphatase deficiency | | | | 64 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | FCGR2A CL E G H | 2212 | 3616 | OMIM:219700 | Cystic fibrosis | | | | 6 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | FCHO1 CL E G H | 23149 | 29002 | OMIM:619164 | IMMUNODEFICIENCY 76; IMD76 | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | FDX2 CL E G H | 112812 | 30546 | OMIM:251900 | Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | FERMT3 CL E G H | 83706 | 23151 | OMIM:612840 | Leukocyte adhesion deficiency, type III | | | | 23 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | FGA CL E G H | 2243 | 3661 | OMIM:105200 | Amyloidosis, familial visceral | | | | 47 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:614592 | Bent bone dysplasia syndrome | | | | 175 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:313855 | FGFR2-related bent bone dysplasia | | | | 175 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | FLNC CL E G H | 2318 | 3756 | ORPHA:75249 | Familial isolated restrictive cardiomyopathy | | | | 197 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | FMO3 CL E G H | 2328 | 3771 | OMIM:602079 | Trimethylaminuria | | | | 55 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | FOS CL E G H | 2353 | 3796 | ORPHA:528 | Congenital generalized lipodystrophy | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | FOXP3 CL E G H | 50943 | 6106 | ORPHA:37042 | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | | | | 32 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | FOXRED1 CL E G H | 55572 | 26927 | ORPHA:2609 | Isolated complex I deficiency | | | | 61 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | FUCA1 CL E G H | 2517 | 4006 | ORPHA:349 | Fucosidosis | | | | 43 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | FUCA1 CL E G H | 2517 | 4006 | OMIM:230000 | FUCOSIDOSIS | | | | 43 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | G6PC1 CL E G H | 2538 | 4056 | OMIM:232200 | Glycogen storage disease ia | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | G6PC3 CL E G H | 92579 | 24861 | OMIM:612541 | Neutropenia, severe congenital, 4, autosomal recessive | | | | 37 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | G6PD CL E G H | 2539 | 4057 | OMIM:300908 | Anemia, nonspherocytic hemolytic, due to g6pd deficiency | | | | 101 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | GAA CL E G H | 2548 | 4065 | ORPHA:308552 | Glycogen storage disease due to acid maltase deficiency, infantile onset | | | | 407 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | GAA CL E G H | 2548 | 4065 | OMIM:232300 | Glycogen storage disease II | | | | 407 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | GALE CL E G H | 2582 | 4116 | OMIM:230350 | Galactose epimerase deficiency | | | | 52 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | GALK1 CL E G H | 2584 | 4118 | ORPHA:79237 | Galactokinase deficiency | | | | 23 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | GALM CL E G H | 130589 | 24063 | ORPHA:570422 | Galactose mutarotase deficiency | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | GALNS CL E G H | 2588 | 4122 | OMIM:253000 | Morquio syndrome A | | | | 123 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | GALT CL E G H | 2592 | 4135 | ORPHA:79239 | Classic galactosemia | | | | 351 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | GALT CL E G H | 2592 | 4135 | OMIM:230400 | GALACTOSEMIA | | | | 351 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:231393 | Beta-thalassemia-X-linked thrombocytopenia syndrome | | | | 29 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:79277 | Congenital erythropoietic porphyria | | | | 29 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | GATA1 CL E G H | 2623 | 4170 | OMIM:314050 | Thrombocytopenia with beta-thalassemia, X-linked | | | | 29 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | GATA2 CL E G H | 2624 | 4171 | ORPHA:3226 | Deafness-lymphedema-leukemia syndrome | | | | 137 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:85212 | Fetal Gaucher disease | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:77259 | Gaucher disease type 1 | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:77260 | Gaucher disease type 2 | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:77261 | Gaucher disease type 3 | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:608013 | Gaucher disease, perinatal lethal | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:230800 | Gaucher disease, type I | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:230900 | Gaucher disease, type II | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:231000 | Gaucher disease, type III | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:231005 | Gaucher disease, type IIIC | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:2072 | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | GBE1 CL E G H | 2632 | 4180 | OMIM:232500 | Glycogen storage disease IV | | | | 86 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | GCDH CL E G H | 2639 | 4189 | OMIM:231670 | Glutaric acidemia I | | | | 115 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | GCLC CL E G H | 2729 | 4311 | ORPHA:33574 | Glutamate-cysteine ligase deficiency | | | | 2 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | GEMIN4 CL E G H | 50628 | 15717 | OMIM:617913 | Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities | | | | 1 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | GFM1 CL E G H | 85476 | 13780 | OMIM:609060 | Combined oxidative phosphorylation deficiency 1 | | | | 85 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | GIMAP5 CL E G H | 55340 | 18005 | OMIM:619463 | PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2 | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | GLB1 CL E G H | 2720 | 4298 | ORPHA:79255 | GM1 gangliosidosis type 1 | | | | 120 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | GLB1 CL E G H | 2720 | 4298 | OMIM:230500 | GM1-gangliosidosis, type I | | | | 120 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | GLB1 CL E G H | 2720 | 4298 | OMIM:230600 | Gm1-gangliosidosis, type II | | | | 120 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | GLB1 CL E G H | 2720 | 4298 | OMIM:253010 | Mucopolysaccharidosis type IVB (Morquio) | | | | 120 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | GLIS3 CL E G H | 169792 | 28510 | OMIM:610199 | Diabetes mellitus, neonatal, with congenital hypothyroidism | | | | 143 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | GLRX5 CL E G H | 51218 | 20134 | OMIM:616860 | Anemia, sideroblastic, 3, pyridoxine-refractory | | | | 17 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | GNE CL E G H | 10020 | 23657 | ORPHA:3166 | Sialuria | | | | 173 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | GNE CL E G H | 10020 | 23657 | OMIM:269921 | SIALURIA | | | | 173 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | GNMT CL E G H | 27232 | 4415 | OMIM:606664 | GLYCINE N-METHYLTRANSFERASE DEFICIENCY | | | | 3 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | | | | 240 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | GNPTAB CL E G H | 79158 | 29670 | ORPHA:576 | Mucolipidosis type II | | | | 240 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | | | | 69 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | GP1BA CL E G H | 2811 | 4439 | OMIM:153670 | Bernard-Soulier syndrome, type A2, autosomal dominant | | | | 23 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 8 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | | | | 73 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | GPD1 CL E G H | 2819 | 4455 | OMIM:614480 | Hypertriglyceridemia, transient infantile | | | | 3 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | GPI CL E G H | 2821 | 4458 | OMIM:613470 | Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency | | | | 12 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | GPIHBP1 CL E G H | 338328 | 24945 | OMIM:615947 | Hyperlipoproteinemia, type ID | | | | 12 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | GPR35 CL E G H | 2859 | 4492 | ORPHA:171 | Primary sclerosing cholangitis | | | | 2 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | GUCY2D CL E G H | 3000 | 4689 | OMIM:204000 | Leber congenital amaurosis, type I | | | | 124 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | GUSB CL E G H | 2990 | 4696 | ORPHA:584 | Mucopolysaccharidosis type 7 | | | | 54 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | GUSB CL E G H | 2990 | 4696 | OMIM:253220 | Mucopolysaccharidosis, type VII | | | | 54 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | GYPC CL E G H | 2995 | 4704 | ORPHA:288 | Hereditary elliptocytosis | | | | 5 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | H19-ICR CL E G H | 105259599 | | OMIM:130650 | Beckwith-Wiedemann syndrome | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | HADHA CL E G H | 3030 | 4801 | ORPHA:5 | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | | | | 99 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | HADHA CL E G H | 3030 | 4801 | OMIM:609016 | Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency | | | | 99 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | HAMP CL E G H | 57817 | 15598 | OMIM:613313 | Hemochromatosis, type 2B | | | | 15 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | HAVCR2 CL E G H | 84868 | 18437 | ORPHA:86884 | Subcutaneous panniculitis-like T-cell lymphoma | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | HAVCR2 CL E G H | 84868 | 18437 | OMIM:618398 | T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | HBA1 CL E G H | 3039 | 4823 | ORPHA:163596 | Hb Bart's hydrops fetalis | | | | 200 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | HBA1 CL E G H | 3039 | 4823 | OMIM:613978 | Hemoglobin H disease | | | | 200 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | HBA2 CL E G H | 3040 | 4824 | ORPHA:163596 | Hb Bart's hydrops fetalis | | | | 88 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | HBA2 CL E G H | 3040 | 4824 | OMIM:613978 | Hemoglobin H disease | | | | 88 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231222 | Beta-thalassemia intermedia | | | | 580 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231214 | Beta-thalassemia major | | | | 580 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | HBB CL E G H | 3043 | 4827 | OMIM:603902 | BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE | | | | 580 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231226 | Dominant beta-thalassemia | | | | 580 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231242 | Hemoglobin C-beta-thalassemia syndrome | | | | 580 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:90039 | Hemoglobin D disease | | | | 580 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:2133 | Hemoglobin E disease | | | | 580 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:46532 | Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome | | | | 580 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 580 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | HBB CL E G H | 3043 | 4827 | OMIM:603903 | Sickle cell anemia | | | | 580 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | HBG1 CL E G H | 3047 | 4831 | ORPHA:46532 | Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome | | | | 35 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | HBG1 CL E G H | 3047 | 4831 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 35 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | HBG2 CL E G H | 3048 | 4832 | OMIM:613977 | Cyanosis, transient neonatal | | | | 50 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | HBG2 CL E G H | 3048 | 4832 | ORPHA:46532 | Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome | | | | 50 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | HBG2 CL E G H | 3048 | 4832 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 50 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | HEXB CL E G H | 3074 | 4879 | OMIM:268800 | Sandhoff disease | | | | 80 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | HEXB CL E G H | 3074 | 4879 | ORPHA:309155 | Sandhoff disease, infantile form | | | | 80 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | HFE CL E G H | 3077 | 4886 | OMIM:235200 | Hemochromatosis, type 1 | | | | 38 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | HFE CL E G H | 3077 | 4886 | ORPHA:465508 | Symptomatic form of hemochromatosis type 1 | | | | 38 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | HGSNAT CL E G H | 138050 | 26527 | OMIM:252930 | Mucopolysaccharidosis type IIIC | | | | 86 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 3 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | HJV CL E G H | 148738 | 4887 | OMIM:602390 | Hemochromatosis, type 2A | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | HK1 CL E G H | 3098 | 4922 | OMIM:235700 | Hemolytic anemia, nonspherocytic, due to hexokinase deficiency | | | | 11 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:117 | Behçet disease | | | | 4 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:545 | Follicular lymphoma | | | | 2 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | | | | 2 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | OMIM:181000 | Sarcoidosis, susceptibility to, 1 | | | | 2 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | | | | 2 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | HMGCL CL E G H | 3155 | 5005 | ORPHA:20 | 3-hydroxy-3-methylglutaric aciduria | | | | 35 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | HMGCL CL E G H | 3155 | 5005 | OMIM:246450 | 3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency | | | | 35 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | HMGCS2 CL E G H | 3158 | 5008 | OMIM:605911 | 3-Hydroxy-3-Methylglutaryl-Coa synthase-2 deficiency | | | | 42 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | HMOX1 CL E G H | 3162 | 5013 | OMIM:614034 | HEME OXYGENASE 1 DEFICIENCY; HMOX1D | | | | 3 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | HNF1A CL E G H | 6927 | 11621 | ORPHA:324575 | Hyperinsulinism due to HNF1A deficiency | | | | 161 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | HNF4A CL E G H | 3172 | 5024 | OMIM:616026 | Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | | | | 138 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | HNF4A CL E G H | 3172 | 5024 | ORPHA:263455 | Hyperinsulinism due to HNF4A deficiency | | | | 138 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | HPGD CL E G H | 3248 | 5154 | ORPHA:2796 | Pachydermoperiostosis | | | | 55 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | HSD17B4 CL E G H | 3295 | 5213 | OMIM:261515 | D-bifunctional protein deficiency | | | | 98 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | HSD3B7 CL E G H | 80270 | 18324 | OMIM:607765 | Bile acid synthesis defect, congenital, 1 | | | | 26 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | HSD3B7 CL E G H | 80270 | 18324 | ORPHA:79301 | Congenital bile acid synthesis defect type 1 | | | | 26 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | HYMAI CL E G H | 57061 | 5326 | ORPHA:96191 | Paternal uniparental disomy of chromosome 6 | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | HYOU1 CL E G H | 10525 | 16931 | OMIM:233600 | Immunodeficiency 59 and hypoglycemia | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | IARS1 CL E G H | 3376 | 5330 | ORPHA:541423 | Growth delay-intellectual disability-hepatopathy syndrome | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ICOS CL E G H | 29851 | 5351 | ORPHA:1572 | Common variable immunodeficiency | | | | 32 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ICOS CL E G H | 29851 | 5351 | OMIM:607594 | Immunodeficiency, common variable, 1 | | | | 32 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ICOS CL E G H | 29851 | 5351 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 32 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | IDS CL E G H | 3423 | 5389 | ORPHA:217093 | Mucopolysaccharidosis type 2, attenuated form | | | | 86 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | IDS CL E G H | 3423 | 5389 | ORPHA:217085 | Mucopolysaccharidosis type 2, severe form | | | | 86 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | IDS CL E G H | 3423 | 5389 | OMIM:309900 | Mucopolysaccharidosis, type II | | | | 86 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | IDUA CL E G H | 3425 | 5391 | OMIM:607014 | Hurler syndrome | | | | 115 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | IDUA CL E G H | 3425 | 5391 | ORPHA:93473 | Hurler syndrome | | | | 115 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | IDUA CL E G H | 3425 | 5391 | ORPHA:93476 | Hurler-Scheie syndrome | | | | 115 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | IDUA CL E G H | 3425 | 5391 | OMIM:607015 | Hurler-Scheie syndrome | | | | 115 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | IDUA CL E G H | 3425 | 5391 | ORPHA:93474 | Scheie syndrome | | | | 115 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | IFIH1 CL E G H | 64135 | 18873 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 28 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | IFIH1 CL E G H | 64135 | 18873 | OMIM:615846 | Aicardi-Goutieres syndrome 7 | | | | 28 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | IFNG CL E G H | 3458 | 5438 | OMIM:618963 | IMMUNODEFICIENCY 69; IMD69 | | | | 23 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | IFNGR1 CL E G H | 3459 | 5439 | ORPHA:117 | Behçet disease | | | | 60 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | IFNGR1 CL E G H | 3459 | 5439 | OMIM:209950 | Immunodeficiency 27A, mycobacteriosis, AR | | | | 60 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | IFT122 CL E G H | 55764 | 13556 | OMIM:218330 | Cranioectodermal dysplasia | | | | 93 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | IFT172 CL E G H | 26160 | 30391 | OMIM:615630 | Short-Rib thoracic dysplasia 10 with or without polydactyly | | | | 48 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | IGF2 CL E G H | 3481 | 5466 | OMIM:130650 | Beckwith-Wiedemann syndrome | | | | 9 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | IGH CL E G H | 3492 | 5477 | ORPHA:545 | Follicular lymphoma | | | | 7 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | IGH CL E G H | 3492 | 5477 | ORPHA:52416 | Mantle cell lymphoma | | | | 7 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | IKBKG CL E G H | 8517 | 5961 | OMIM:301081 | | | | | 52 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | IKZF3 CL E G H | 22806 | 13178 | OMIM:619437 | IMMUNODEFICIENCY 84; IMD84 | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | IL10 CL E G H | 3586 | 5962 | ORPHA:117 | Behçet disease | | | | 2 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | IL12A CL E G H | 3592 | 5969 | ORPHA:117 | Behçet disease | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | IL12A-AS1 CL E G H | 101928376 | 49094 | ORPHA:117 | Behçet disease | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | IL18BP CL E G H | 10068 | 5987 | OMIM:618549 | HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | IL1RN CL E G H | 3557 | 6000 | OMIM:612852 | Interleukin 1 receptor antagonist deficiency | | | | 40 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | IL23R CL E G H | 149233 | 19100 | ORPHA:117 | Behçet disease | | | | 1 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | IL2RA CL E G H | 3559 | 6008 | OMIM:606367 | IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41 | | | | 65 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | IL2RA CL E G H | 3559 | 6008 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | 65 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | IL2RB CL E G H | 3560 | 6009 | OMIM:618495 | Immunodeficiency 63 with lymphoproliferation and autoimmunity | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | IL2RB CL E G H | 3560 | 6009 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | IL2RG CL E G H | 3561 | 6010 | ORPHA:39041 | Omenn syndrome | | | | 48 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | IL2RG CL E G H | 3561 | 6010 | OMIM:300400 | Severe combined immunodeficiency, X-linked | | | | 48 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | IL2RG CL E G H | 3561 | 6010 | ORPHA:276 | T-B+ severe combined immunodeficiency due to gamma chain deficiency | | | | 48 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | IL6 CL E G H | 3569 | 6018 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | | | | 2 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | IL6ST CL E G H | 3572 | 6021 | OMIM:619750 | IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94 | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | IL7R CL E G H | 3575 | 6024 | ORPHA:39041 | Omenn syndrome | | | | 94 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | IL7R CL E G H | 3575 | 6024 | OMIM:608971 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive | | | | 94 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | IL7R CL E G H | 3575 | 6024 | ORPHA:169154 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | | | | 94 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | INPP5E CL E G H | 56623 | 21474 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 111 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | INPPL1 CL E G H | 3636 | 6080 | ORPHA:2746 | Opsismodysplasia | | | | 18 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | INSR CL E G H | 3643 | 6091 | ORPHA:508 | Leprechaunism | | | | 229 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | IRF2BP2 CL E G H | 359948 | 21729 | ORPHA:1572 | Common variable immunodeficiency | | | | 4 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | IRF4 CL E G H | 3662 | 6119 | ORPHA:3452 | Whipple disease | | | | 1 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | IRF8 CL E G H | 3394 | 5358 | OMIM:226990 | Immunodeficiency 32B | | | | 5 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ITCH CL E G H | 83737 | 13890 | OMIM:613385 | AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD | | | | 3 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ITCH CL E G H | 83737 | 13890 | ORPHA:228426 | Syndromic multisystem autoimmune disease due to Itch deficiency | | | | 3 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ITK CL E G H | 3702 | 6171 | OMIM:613011 | LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1 | | | | 51 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | JAK1 CL E G H | 3716 | 6190 | OMIM:618999 | AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE | | | | 12 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | JAK2 CL E G H | 3717 | 6192 | ORPHA:131 | Budd-Chiari syndrome | | | | 57 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | JAK2 CL E G H | 3717 | 6192 | OMIM:133100 | Erythrocytosis, familial, 1 | | | | 57 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | JAK2 CL E G H | 3717 | 6192 | ORPHA:3318 | Essential thrombocythemia | | | | 57 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | JAK2 CL E G H | 3717 | 6192 | ORPHA:71493 | Familial thrombocytosis | | | | 57 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | JAK2 CL E G H | 3717 | 6192 | OMIM:254450 | Myelofibrosismyelofibrosis with myeloid metaplasia, included | | | | 57 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | JAK2 CL E G H | 3717 | 6192 | ORPHA:729 | Polycythemia vera | | | | 57 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | JAK2 CL E G H | 3717 | 6192 | OMIM:263300 | Polycythemia vera | | | | 57 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | JAK2 CL E G H | 3717 | 6192 | ORPHA:824 | Primary myelofibrosis | | | | 57 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | JAK3 CL E G H | 3718 | 6193 | ORPHA:35078 | T-B+ severe combined immunodeficiency due to JAK3 deficiency | | | | 140 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | JAM2 CL E G H | 58494 | 14686 | ORPHA:1980 | Bilateral striopallidodentate calcinosis | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | JAM3 CL E G H | 83700 | 15532 | OMIM:613730 | Hemorrhagic destruction of the brain, subependymal calcification,and cataracts | | | | 4 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 2 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:3473 | Zimmermann-Laband syndrome | | | | 13 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | KCNH1 CL E G H | 3756 | 6250 | OMIM:135500 | Zimmermann-Laband syndrome 1 | | | | 13 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:276580 | Autosomal dominant hyperinsulinism due to Kir6.2 deficiency | | | | 127 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | KCNN3 CL E G H | 3782 | 6292 | ORPHA:3473 | Zimmermann-Laband syndrome | | | | 7 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | KCNN4 CL E G H | 3783 | 6293 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | | | | 3 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | KCNN4 CL E G H | 3783 | 6293 | OMIM:616689 | Dehydrated hereditary stomatocytosis 2 | | | | 3 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | KCNQ1 CL E G H | 3784 | 6294 | OMIM:130650 | Beckwith-Wiedemann syndrome | | | | 730 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | KCNQ1OT1 CL E G H | 10984 | 6295 | OMIM:130650 | Beckwith-Wiedemann syndrome | | | | 1 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | KIF12 CL E G H | 113220 | 21495 | OMIM:619662 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8 | | | | 1 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | KIF20A CL E G H | 10112 | 9787 | OMIM:619433 | CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6; RCM6 | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | KIF20A CL E G H | 10112 | 9787 | ORPHA:75249 | Familial isolated restrictive cardiomyopathy | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | KIF3B CL E G H | 9371 | 6320 | OMIM:618955 | RETINITIS PIGMENTOSA 89; RP89 | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | KIT CL E G H | 3815 | 6342 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | | | | 327 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | KLF1 CL E G H | 10661 | 6345 | OMIM:613673 | Anemia, dyserythropoietic congenital, type IV | | | | 42 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | KLF1 CL E G H | 10661 | 6345 | ORPHA:46532 | Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome | | | | 42 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | KLF1 CL E G H | 10661 | 6345 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 42 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | KLRC4 CL E G H | 8302 | 6377 | ORPHA:117 | Behçet disease | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | KPTN CL E G H | 11133 | 6404 | ORPHA:397612 | Macrocephaly-developmental delay syndrome | | | | 13 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | KPTN CL E G H | 11133 | 6404 | OMIM:615637 | Mental retardation, autosomal recessive 41 | | | | 13 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 196 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:648 | Noonan syndrome | | | | 196 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:614470 | RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic | | | | 196 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | LACC1 CL E G H | 144811 | 26789 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | | | | 1 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | LAMA5 CL E G H | 3911 | 6485 | OMIM:620076 | | | | | 5 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | LARS1 CL E G H | 51520 | 6512 | OMIM:615438 | Infantile liver failure syndrome 1 | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | LAT CL E G H | 27040 | 18874 | OMIM:617514 | Immunodeficiency 52 | | | | 2 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | LBR CL E G H | 3930 | 6518 | OMIM:215140 | Greenberg dysplasia | | | | 70 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | LBR CL E G H | 3930 | 6518 | OMIM:613471 | Reynolds syndrome | | | | 70 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | LBR CL E G H | 3930 | 6518 | ORPHA:779 | Reynolds syndrome | | | | 70 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | LCAT CL E G H | 3931 | 6522 | ORPHA:79292 | Fish-eye disease | | | | 26 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | LIG4 CL E G H | 3981 | 6601 | ORPHA:99812 | LIG4 syndrome | | | | 88 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | LIG4 CL E G H | 3981 | 6601 | ORPHA:39041 | Omenn syndrome | | | | 88 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | LIPA CL E G H | 3988 | 6617 | ORPHA:75234 | Cholesteryl ester storage disease | | | | 73 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | LIPA CL E G H | 3988 | 6617 | OMIM:278000 | Lysosomal acid lipase deficiency | | | | 73 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | LIPA CL E G H | 3988 | 6617 | ORPHA:75233 | Wolman disease | | | | 73 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | LIPE CL E G H | 3991 | 6621 | ORPHA:435660 | LIPE-related familial partial lipodystrophy | | | | 7 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | LMBRD1 CL E G H | 55788 | 23038 | OMIM:277380 | Methylmalonic aciduria and homocystinuria, Cblf type | | | | 46 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:280365 | Autosomal semi-dominant severe lipodystrophic laminopathy | | | | 645 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:2348 | Familial partial lipodystrophy, Dunnigan type | | | | 645 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:79084 | Familial partial lipodystrophy, Köbberling type | | | | 645 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:151660 | Lipodystrophy, familial partial, type 2 | | | | 645 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:248370 | Mandibuloacral dysplasia | | | | 645 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | LPIN2 CL E G H | 9663 | 14450 | ORPHA:77297 | Majeed syndrome | | | | 186 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | LPIN2 CL E G H | 9663 | 14450 | OMIM:609628 | MAJEED SYNDROME; MJDS | | | | 186 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | LPL CL E G H | 4023 | 6677 | OMIM:238600 | Type I hyperlipoproteinemia | | | | 106 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | LRBA CL E G H | 987 | 1742 | OMIM:614700 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 | | | | 45 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | LRP5 CL E G H | 4041 | 6697 | ORPHA:2924 | Isolated polycystic liver disease | | | | 125 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | LSM11 CL E G H | 134353 | 30860 | ORPHA:51 | Aicardi-Goutières syndrome | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | LTBP3 CL E G H | 4054 | 6716 | OMIM:617809 | Geleophysic dysplasia 3 | | | | 12 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | LYRM4 CL E G H | 57128 | 21365 | OMIM:615595 | Combined oxidative phosphorylation deficiency 19 | | | | 4 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | | | | 239 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | LYST CL E G H | 1130 | 1968 | OMIM:214500 | Chediak-Higashi syndrome | | | | 239 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | LYZ CL E G H | 4069 | 6740 | OMIM:105200 | Amyloidosis, familial visceral | | | | 32 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | LZTR1 CL E G H | 8216 | 6742 | ORPHA:648 | Noonan syndrome | | | | 43 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | MADD CL E G H | 8567 | 6766 | OMIM:619004 | DEEAH SYNDROME; DEEAH | | | | 5 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | MADD CL E G H | 8567 | 6766 | OMIM:619005 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH | | | | 5 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | MAGT1 CL E G H | 84061 | 28880 | OMIM:301031 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc; CDG1CC | | | | 17 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | MAGT1 CL E G H | 84061 | 28880 | OMIM:300853 | IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN | | | | 17 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | MAN2B1 CL E G H | 4125 | 6826 | OMIM:248500 | Alpha-mannosidosis | | | | 136 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309288 | Alpha-mannosidosis, adult form | | | | 136 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309282 | Alpha-mannosidosis, infantile form | | | | 136 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | MAPK8IP3 CL E G H | 23162 | 6884 | OMIM:618443 | Neurodevelopmental disorder with or without variable brain abnormalities | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | MARS1 CL E G H | 4141 | 6898 | OMIM:615486 | Interstitial lung and liver disease | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | MCM4 CL E G H | 4173 | 6947 | OMIM:609981 | Immunodeficiency 54 | | | | 69 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:301068 | HARDIKAR SYNDROME; HDKR | | | | 228 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | MEFV CL E G H | 4210 | 6998 | ORPHA:117 | Behçet disease | | | | 281 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | MEFV CL E G H | 4210 | 6998 | ORPHA:342 | Familial Mediterranean fever | | | | 281 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | MEFV CL E G H | 4210 | 6998 | OMIM:249100 | Familial Mediterranean fever, AR | | | | 281 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | MET CL E G H | 4233 | 7029 | ORPHA:33402 | Pediatric hepatocellular carcinoma | | | | 375 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | MFN2 CL E G H | 9927 | 16877 | ORPHA:2398 | Multiple symmetric lipomatosis | | | | 203 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | MICU1 CL E G H | 10367 | 1530 | OMIM:615673 | Myopathy with extrapyramidal signs | | | | 14 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | MIF CL E G H | 4282 | 7097 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | | | | 1 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | MKS1 CL E G H | 54903 | 7121 | OMIM:249000 | Meckel syndrome 1 | | | | 127 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | MMAA CL E G H | 166785 | 18871 | OMIM:251100 | Methylmalonic aciduria, Cbla type | | | | 113 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | MMAB CL E G H | 326625 | 19331 | OMIM:251110 | Methylmalonic aciduria, Cblb type | | | | 127 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | MMUT CL E G H | 4594 | 7526 | OMIM:251000 | Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | MMUT CL E G H | 4594 | 7526 | ORPHA:79312 | Vitamin B12-unresponsive methylmalonic acidemia type mut- | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | MMUT CL E G H | 4594 | 7526 | ORPHA:289916 | Vitamin B12-unresponsive methylmalonic acidemia type mut0 | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | MOGS CL E G H | 7841 | 24862 | OMIM:606056 | Congenital disorder of glycosylation, type IIB | | | | 37 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | MOGS CL E G H | 7841 | 24862 | ORPHA:79330 | MOGS-CDG | | | | 37 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | MPC1 CL E G H | 51660 | 21606 | OMIM:614741 | Mitochondrial pyruvate carrier deficiency | | | | 6 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | MPI CL E G H | 4351 | 7216 | OMIM:602579 | Congenital disorder of glycosylation, type Ib | | | | 51 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | MPI CL E G H | 4351 | 7216 | ORPHA:79319 | MPI-CDG | | | | 51 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | MPIG6B CL E G H | 80739 | 13937 | OMIM:617441 | Thrombocytopenia, anemia, and myelofibrosis | | | | 1 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | MPL CL E G H | 4352 | 7217 | ORPHA:3318 | Essential thrombocythemia | | | | 97 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | MPL CL E G H | 4352 | 7217 | ORPHA:71493 | Familial thrombocytosis | | | | 97 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | MPL CL E G H | 4352 | 7217 | OMIM:254450 | Myelofibrosismyelofibrosis with myeloid metaplasia, included | | | | 97 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | MPL CL E G H | 4352 | 7217 | ORPHA:729 | Polycythemia vera | | | | 97 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | MPL CL E G H | 4352 | 7217 | ORPHA:824 | Primary myelofibrosis | | | | 97 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | MPV17 CL E G H | 4358 | 7224 | OMIM:256810 | Navajo neurohepatopathy | | | | 56 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | MRAS CL E G H | 22808 | 7227 | ORPHA:648 | Noonan syndrome | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | MRPL3 CL E G H | 11222 | 10379 | OMIM:614582 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9 | | | | 13 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | MRPS28 CL E G H | 28957 | 14513 | OMIM:618958 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47 | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | MRPS7 CL E G H | 51081 | 14499 | OMIM:617872 | Combined oxidative phosphorylation deficiency 34 | | | | 12 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | MS4A1 CL E G H | 931 | 7315 | ORPHA:1572 | Common variable immunodeficiency | | | | 1 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | MST1 CL E G H | 4485 | 7380 | ORPHA:171 | Primary sclerosing cholangitis | | | | 1 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | MTTP CL E G H | 4547 | 7467 | ORPHA:14 | Abetalipoproteinemia | | | | 81 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | MTX2 CL E G H | 10651 | 7506 | OMIM:619127 | MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | MVK CL E G H | 4598 | 7530 | OMIM:260920 | Hyper-Igd syndrome | | | | 150 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | MVK CL E G H | 4598 | 7530 | ORPHA:343 | Hyperimmunoglobulinemia D with periodic fever | | | | 150 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | MVK CL E G H | 4598 | 7530 | OMIM:610377 | Mevalonic aciduria | | | | 150 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | MVK CL E G H | 4598 | 7530 | ORPHA:29 | Mevalonic aciduria | | | | 150 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | MYBPC3 CL E G H | 4607 | 7551 | OMIM:115197 | Cardiomyopathy, familial hypertrophic, 4 | | | | 1143 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | MYD88 CL E G H | 4615 | 7562 | ORPHA:33226 | Waldenström macroglobulinemia | | | | 9 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | MYL2 CL E G H | 4633 | 7583 | OMIM:619424 | MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12 | | | | 131 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | MYO5B CL E G H | 4645 | 7603 | OMIM:619868 | | | | | 192 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | MYORG CL E G H | 57462 | 19918 | ORPHA:1980 | Bilateral striopallidodentate calcinosis | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | MYPN CL E G H | 84665 | 23246 | ORPHA:75249 | Familial isolated restrictive cardiomyopathy | | | | 217 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NAGA CL E G H | 4668 | 7631 | ORPHA:79279 | Alpha-N-acetylgalactosaminidase deficiency type 1 | | | | 47 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NAGA CL E G H | 4668 | 7631 | ORPHA:79281 | Alpha-N-acetylgalactosaminidase deficiency type 3 | | | | 47 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NAGLU CL E G H | 4669 | 7632 | OMIM:252920 | Mucopolysaccharidosis type IIIB | | | | 72 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NAGS CL E G H | 162417 | 17996 | ORPHA:927 | Hyperammonemia due to N-acetylglutamate synthase deficiency | | | | 36 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NBEAL2 CL E G H | 23218 | 31928 | ORPHA:721 | Gray platelet syndrome | | | | 127 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NBEAL2 CL E G H | 23218 | 31928 | OMIM:139090 | Gray platelet syndrome | | | | 127 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:379 | Chronic granulomatous disease | | | | 13 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NCF1 CL E G H | 653361 | 7660 | OMIM:233700 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I | | | | 13 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NCF2 CL E G H | 4688 | 7661 | ORPHA:379 | Chronic granulomatous disease | | | | 67 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NCF2 CL E G H | 4688 | 7661 | OMIM:233710 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II | | | | 67 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NCF4 CL E G H | 4689 | 7662 | ORPHA:379 | Chronic granulomatous disease | | | | 37 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NCKAP1L CL E G H | 3071 | 4862 | OMIM:618982 | IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72 | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:2609 | Isolated complex I deficiency | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ND2 CL E G H | 4536 | 7456 | ORPHA:2609 | Isolated complex I deficiency | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ND2 CL E G H | 4536 | 7456 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ND3 CL E G H | 4537 | 7458 | ORPHA:2609 | Isolated complex I deficiency | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ND3 CL E G H | 4537 | 7458 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NDUFA1 CL E G H | 4694 | 7683 | ORPHA:2609 | Isolated complex I deficiency | | | | 7 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NDUFA11 CL E G H | 126328 | 20371 | ORPHA:2609 | Isolated complex I deficiency | | | | 32 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NDUFA6 CL E G H | 4700 | 7690 | ORPHA:2609 | Isolated complex I deficiency | | | | 1 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NDUFAF1 CL E G H | 51103 | 18828 | ORPHA:2609 | Isolated complex I deficiency | | | | 40 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NDUFAF1 CL E G H | 51103 | 18828 | OMIM:618234 | Mitochondrial complex I deficiency, nuclear type 11 | | | | 40 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NDUFAF2 CL E G H | 91942 | 28086 | ORPHA:2609 | Isolated complex I deficiency | | | | 26 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NDUFAF3 CL E G H | 25915 | 29918 | ORPHA:2609 | Isolated complex I deficiency | | | | 31 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NDUFAF4 CL E G H | 29078 | 21034 | ORPHA:2609 | Isolated complex I deficiency | | | | 50 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NDUFAF5 CL E G H | 79133 | 15899 | ORPHA:2609 | Isolated complex I deficiency | | | | 34 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NDUFAF8 CL E G H | 284184 | 33551 | ORPHA:2609 | Isolated complex I deficiency | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NDUFB10 CL E G H | 4716 | 7696 | ORPHA:2609 | Isolated complex I deficiency | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NDUFB11 CL E G H | 54539 | 20372 | ORPHA:2609 | Isolated complex I deficiency | | | | 3 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NDUFB3 CL E G H | 4709 | 7698 | ORPHA:2609 | Isolated complex I deficiency | | | | 9 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NDUFB9 CL E G H | 4715 | 7704 | ORPHA:2609 | Isolated complex I deficiency | | | | 16 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NDUFS1 CL E G H | 4719 | 7707 | ORPHA:2609 | Isolated complex I deficiency | | | | 81 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:2609 | Isolated complex I deficiency | | | | 65 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NDUFS3 CL E G H | 4722 | 7710 | ORPHA:2609 | Isolated complex I deficiency | | | | 22 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NDUFS4 CL E G H | 4724 | 7711 | ORPHA:2609 | Isolated complex I deficiency | | | | 27 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NDUFS4 CL E G H | 4724 | 7711 | OMIM:252010 | Mitochondrial complex I deficiency, nuclear type 1 | | | | 27 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NDUFS6 CL E G H | 4726 | 7713 | ORPHA:2609 | Isolated complex I deficiency | | | | 21 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NDUFS7 CL E G H | 374291 | 7714 | ORPHA:2609 | Isolated complex I deficiency | | | | 38 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NDUFS7 CL E G H | 374291 | 7714 | OMIM:618224 | Mitochondrial complex I deficiency, nuclear type 3 | | | | 38 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NDUFS8 CL E G H | 4728 | 7715 | ORPHA:2609 | Isolated complex I deficiency | | | | 42 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NDUFV1 CL E G H | 4723 | 7716 | ORPHA:2609 | Isolated complex I deficiency | | | | 74 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NDUFV2 CL E G H | 4729 | 7717 | ORPHA:2609 | Isolated complex I deficiency | | | | 27 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NEK8 CL E G H | 284086 | 13387 | OMIM:615415 | Renal-Hepatic-Pancreatic dysplasia 2 | | | | 43 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NEU1 CL E G H | 4758 | 7758 | ORPHA:93400 | Congenital sialidosis type 2 | | | | 43 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NEU1 CL E G H | 4758 | 7758 | ORPHA:93399 | Juvenile sialidosis type 2 | HP:0040281 - Very frequent | | | 43 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NEU1 CL E G H | 4758 | 7758 | OMIM:256550 | Neuraminidase deficiency | | | | 43 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NEU1 CL E G H | 4758 | 7758 | ORPHA:812 | Sialidosis type 1 | | | | 43 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NFKB1 CL E G H | 4790 | 7794 | ORPHA:1572 | Common variable immunodeficiency | | | | 7 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:1572 | Common variable immunodeficiency | | | | 11 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NGLY1 CL E G H | 55768 | 17646 | ORPHA:404454 | Alacrimia-choreoathetosis-liver dysfunction syndrome | | | | 32 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NGLY1 CL E G H | 55768 | 17646 | OMIM:615273 | Congenital disorder of deglycosylation | | | | 32 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NHLRC2 CL E G H | 374354 | 24731 | OMIM:618278 | Fibrosis, neurodegeneration, and cerebral angiomatosis | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NHP2 CL E G H | 55651 | 14377 | ORPHA:1775 | Dyskeratosis congenita | | | | 27 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NLRC4 CL E G H | 58484 | 16412 | OMIM:616050 | AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC | | | | 30 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NLRP1 CL E G H | 22861 | 14374 | OMIM:617388 | AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK | | | | 37 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NLRP12 CL E G H | 91662 | 22938 | OMIM:611762 | Familial cold autoinflammatory syndrome 2 | | | | 99 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:1451 | CINCA syndrome | | | | 217 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NLRP3 CL E G H | 114548 | 16400 | OMIM:607115 | CINCA SYNDROME; CINCA | | | | 217 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:575 | Muckle-Wells syndrome | | | | 217 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NOD2 CL E G H | 64127 | 5331 | ORPHA:90340 | Blau syndrome | | | | 187 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NOP10 CL E G H | 55505 | 14378 | ORPHA:1775 | Dyskeratosis congenita | | | | 17 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NOTCH1 CL E G H | 4851 | 7881 | OMIM:616028 | Adams-Oliver syndrome 5 | | | | 452 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NOTCH2 CL E G H | 4853 | 7882 | ORPHA:955 | Hajdu-Cheney syndrome | | | | 138 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NPC1 CL E G H | 4864 | 7897 | OMIM:257220 | Niemann-pick disease, type C1 | | | | 258 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NPC2 CL E G H | 10577 | 14537 | OMIM:607625 | Niemann-pick disease, type C2 | | | | 33 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NPHP3 CL E G H | 27031 | 7907 | OMIM:267010 | MECKEL SYNDROME, TYPE 7; MKS7 | | | | 157 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NPHP3 CL E G H | 27031 | 7907 | OMIM:208540 | Renal-Hepatic-Pancreatic dysplasia | | | | 157 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NPM1 CL E G H | 4869 | 7910 | ORPHA:1775 | Dyskeratosis congenita | | | | 12 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NRAS CL E G H | 4893 | 7989 | ORPHA:648 | Noonan syndrome | | | | 102 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NRAS CL E G H | 4893 | 7989 | OMIM:614470 | RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic | | | | 102 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NSD2 CL E G H | 7468 | 12766 | OMIM:619695 | RAUCH-STEINDL SYNDROME; RAUST | | | | 118 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | NUBPL CL E G H | 80224 | 20278 | ORPHA:2609 | Isolated complex I deficiency | | | | 89 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | OAS1 CL E G H | 4938 | 8086 | OMIM:618042 | Pulmonary alveolar proteinosis with hypogammaglobulinemia | | | | 2 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | OCLN CL E G H | 100506658 | 8104 | OMIM:251290 | Band-Like calcification with simplified gyration and polymicrogyria | | | | 23 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | OSTM1 CL E G H | 28962 | 21652 | OMIM:259720 | Osteopetrosis, autosomal recessive 5 | | | | 73 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | OTC CL E G H | 5009 | 8512 | ORPHA:664 | Ornithine transcarbamylase deficiency | | | | 369 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PALB2 CL E G H | 79728 | 26144 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 1349 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PALLD CL E G H | 23022 | 17068 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 192 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PARN CL E G H | 5073 | 8609 | ORPHA:1775 | Dyskeratosis congenita | | | | 26 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PC CL E G H | 5091 | 8636 | OMIM:266150 | Pyruvate carboxylase deficiency | | | | 118 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PCCA CL E G H | 5095 | 8653 | OMIM:606054 | Propionic acidemia | | | | 96 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PCCA CL E G H | 5095 | 8653 | ORPHA:35 | Propionic acidemia | | | | 96 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PCCB CL E G H | 5096 | 8654 | ORPHA:35 | Propionic acidemia | | | | 92 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PCCB CL E G H | 5096 | 8654 | OMIM:606054 | Propionic acidemia | | | | 92 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PCK1 CL E G H | 5105 | 8724 | OMIM:261680 | Phosphoenolpyruvate carboxykinase deficiency, cytosolic | | | | 53 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PDGFB CL E G H | 5155 | 8800 | ORPHA:1980 | Bilateral striopallidodentate calcinosis | | | | 9 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PDGFRA CL E G H | 5156 | 8803 | OMIM:607685 | Hypereosinophilic syndrome, idiopathic | | | | 337 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PDGFRB CL E G H | 5159 | 8804 | ORPHA:1980 | Bilateral striopallidodentate calcinosis | | | | 28 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PEPD CL E G H | 5184 | 8840 | ORPHA:742 | Prolidase deficiency | | | | 66 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PEPD CL E G H | 5184 | 8840 | OMIM:170100 | Prolidase deficiency | | | | 66 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PEX1 CL E G H | 5189 | 8850 | ORPHA:772 | Infantile Refsum disease | | | | 169 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PEX1 CL E G H | 5189 | 8850 | OMIM:214100 | Peroxisome biogenesis disorder 1A (Zellweger) | | | | 169 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PEX1 CL E G H | 5189 | 8850 | OMIM:601539 | Peroxisome biogenesis disorder 1B | | | | 169 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PEX1 CL E G H | 5189 | 8850 | ORPHA:912 | Zellweger syndrome | | | | 169 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PEX10 CL E G H | 5192 | 8851 | ORPHA:772 | Infantile Refsum disease | | | | 75 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PEX10 CL E G H | 5192 | 8851 | OMIM:614870 | Peroxisome biogenesis disorder 6A (Zellweger) | | | | 75 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PEX10 CL E G H | 5192 | 8851 | ORPHA:912 | Zellweger syndrome | | | | 75 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PEX11B CL E G H | 8799 | 8853 | ORPHA:772 | Infantile Refsum disease | | | | 4 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PEX11B CL E G H | 8799 | 8853 | ORPHA:912 | Zellweger syndrome | | | | 4 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PEX12 CL E G H | 5193 | 8854 | ORPHA:772 | Infantile Refsum disease | | | | 65 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PEX12 CL E G H | 5193 | 8854 | OMIM:614859 | Peroxisome biogenesis disorder 3A (Zellweger) | | | | 65 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PEX12 CL E G H | 5193 | 8854 | OMIM:266510 | Peroxisome biogenesis disorder 3B | | | | 65 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PEX12 CL E G H | 5193 | 8854 | ORPHA:912 | Zellweger syndrome | | | | 65 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PEX13 CL E G H | 5194 | 8855 | ORPHA:772 | Infantile Refsum disease | | | | 66 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PEX13 CL E G H | 5194 | 8855 | ORPHA:912 | Zellweger syndrome | | | | 66 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PEX14 CL E G H | 5195 | 8856 | ORPHA:772 | Infantile Refsum disease | | | | 46 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PEX14 CL E G H | 5195 | 8856 | OMIM:614887 | Peroxisome biogenesis disorder 13A (Zellweger) | | | | 46 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PEX14 CL E G H | 5195 | 8856 | ORPHA:912 | Zellweger syndrome | | | | 46 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PEX16 CL E G H | 9409 | 8857 | ORPHA:772 | Infantile Refsum disease | | | | 59 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PEX16 CL E G H | 9409 | 8857 | OMIM:614876 | Peroxisome biogenesis disorder 8A (Zellweger) | | | | 59 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PEX16 CL E G H | 9409 | 8857 | ORPHA:912 | Zellweger syndrome | | | | 59 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PEX19 CL E G H | 5824 | 9713 | ORPHA:772 | Infantile Refsum disease | | | | 62 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PEX19 CL E G H | 5824 | 9713 | ORPHA:912 | Zellweger syndrome | | | | 62 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PEX2 CL E G H | 5828 | 9717 | ORPHA:772 | Infantile Refsum disease | | | | 82 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PEX2 CL E G H | 5828 | 9717 | OMIM:614866 | Peroxisome biogenesis disorder 5A (Zellweger) | | | | 82 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PEX2 CL E G H | 5828 | 9717 | ORPHA:912 | Zellweger syndrome | | | | 82 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PEX26 CL E G H | 55670 | 22965 | ORPHA:772 | Infantile Refsum disease | | | | 106 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PEX26 CL E G H | 55670 | 22965 | OMIM:614872 | Peroxisome biogenesis disorder 7A (zellweger) | | | | 106 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PEX26 CL E G H | 55670 | 22965 | ORPHA:912 | Zellweger syndrome | | | | 106 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PEX3 CL E G H | 8504 | 8858 | ORPHA:772 | Infantile Refsum disease | | | | 47 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PEX3 CL E G H | 8504 | 8858 | OMIM:614882 | Peroxisome biogenesis disorder 10A (Zellweger) | | | | 47 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PEX3 CL E G H | 8504 | 8858 | ORPHA:912 | Zellweger syndrome | | | | 47 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PEX5 CL E G H | 5830 | 9719 | ORPHA:772 | Infantile Refsum disease | | | | 99 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PEX5 CL E G H | 5830 | 9719 | OMIM:214110 | Peroxisome biogenesis disorder 2A (Zellweger) | | | | 99 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PEX5 CL E G H | 5830 | 9719 | ORPHA:912 | Zellweger syndrome | | | | 99 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:772 | Infantile Refsum disease | | | | 98 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PEX6 CL E G H | 5190 | 8859 | OMIM:614862 | Peroxisome biogenesis disorder 4A (Zellweger) | | | | 98 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PEX6 CL E G H | 5190 | 8859 | OMIM:614863 | Peroxisome biogenesis disorder 4B | | | | 98 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:912 | Zellweger syndrome | | | | 98 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PEX7 CL E G H | 5191 | 8860 | ORPHA:773 | Refsum disease | | | | 72 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PGM1 CL E G H | 5236 | 8905 | OMIM:614921 | Congenital disorder of glycosylation, type It | | | | 58 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PHKA2 CL E G H | 5256 | 8926 | ORPHA:264580 | Glycogen storage disease due to liver phosphorylase kinase deficiency | | | | 54 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PHKA2 CL E G H | 5256 | 8926 | OMIM:306000 | Glycogen storage disease ixa | | | | 54 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PHKB CL E G H | 5257 | 8927 | ORPHA:79240 | Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency | | | | 101 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PHKB CL E G H | 5257 | 8927 | OMIM:261750 | Glycogen storage disease ixb | | | | 101 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PHKG2 CL E G H | 5261 | 8931 | ORPHA:264580 | Glycogen storage disease due to liver phosphorylase kinase deficiency | | | | 48 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PHKG2 CL E G H | 5261 | 8931 | OMIM:613027 | Glycogen storage disease IXc | | | | 48 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PHYH CL E G H | 5264 | 8940 | ORPHA:773 | Refsum disease | | | | 45 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PIEZO1 CL E G H | 9780 | 28993 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | | | | 36 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PIEZO1 CL E G H | 9780 | 28993 | OMIM:194380 | Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema | | | | 36 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PIEZO1 CL E G H | 9780 | 28993 | OMIM:616843 | Lymphedema, hereditary, III | | | | 36 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PIGA CL E G H | 5277 | 8957 | OMIM:300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | | | | 46 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PIGA CL E G H | 5277 | 8957 | OMIM:301072 | NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH | | | | 46 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PIGM CL E G H | 93183 | 18858 | OMIM:610293 | Glycosylphosphatidylinositol deficiency | | | | 6 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PIGS CL E G H | 94005 | 14937 | OMIM:618143 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18 | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PIK3C2A CL E G H | 5286 | 8971 | OMIM:618440 | Oculoskeletodental syndrome | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PIK3CA CL E G H | 5290 | 8975 | OMIM:612918 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | | | | 162 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PIK3CD CL E G H | 5293 | 8977 | OMIM:615513 | IMMUNODEFICIENCY 14; IMD14 | | | | 9 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:616005 | Immunodeficiency 36 | | | | 43 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PKD2 CL E G H | 5311 | 9009 | OMIM:613095 | Polycystic kidney disease 2 | | | | 106 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:731 | Autosomal recessive polycystic kidney disease | | | | 563 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:53035 | Caroli disease | | | | 563 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PKHD1 CL E G H | 5314 | 9016 | OMIM:263200 | Polycystic kidney disease 4 with or without polycystic liver disease | | | | 563 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PKLR CL E G H | 5313 | 9020 | ORPHA:766 | Hemolytic anemia due to red cell pyruvate kinase deficiency | | | | 51 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PKLR CL E G H | 5313 | 9020 | OMIM:266200 | Pyruvate kinase deficiency of red cells | | | | 51 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PLAGL1 CL E G H | 5325 | 9046 | ORPHA:96191 | Paternal uniparental disomy of chromosome 6 | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PLEKHM1 CL E G H | 9842 | 29017 | ORPHA:210110 | Intermediate osteopetrosis | | | | 2 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PLEKHM1 CL E G H | 9842 | 29017 | OMIM:618107 | OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA3 | | | | 2 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PMM2 CL E G H | 5373 | 9115 | OMIM:212065 | Congenital disorder of glycosylation, type Ia | | | | 150 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PNP CL E G H | 4860 | 7892 | OMIM:613179 | Immunodeficiency due to purine nucleoside phosphorylase deficiency | | | | 52 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PNPLA2 CL E G H | 57104 | 30802 | OMIM:610717 | Neutral lipid storage disease with myopathy | | | | 65 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PNPLA2 CL E G H | 57104 | 30802 | ORPHA:98908 | Neutral lipid storage myopathy | | | | 65 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PNPLA2 CL E G H | 57104 | 30802 | ORPHA:565612 | Triglyceride deposit cardiomyovasculopathy | | | | 65 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | POLD1 CL E G H | 5424 | 9175 | OMIM:615381 | Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | | | | 731 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | POLG CL E G H | 5428 | 9179 | OMIM:203700 | Mitochondrial DNA depletion syndrome 4A (Alpers type) | | | | 464 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | POLG2 CL E G H | 11232 | 9180 | OMIM:618528 | Mitochondrial DNA depletion syndrome 16 (hepatic type) | | | | 45 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PPARG CL E G H | 5468 | 9236 | ORPHA:528 | Congenital generalized lipodystrophy | | | | 42 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PPARG CL E G H | 5468 | 9236 | ORPHA:79083 | PPARG-related familial partial lipodystrophy | | | | 42 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PPP1R21 CL E G H | 129285 | 30595 | OMIM:619383 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PRF1 CL E G H | 5551 | 9360 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | | | | 58 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PRF1 CL E G H | 5551 | 9360 | OMIM:603553 | Hemophagocytic lymphohistiocytosis, familial, 2 | | | | 58 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 10 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PRKCD CL E G H | 5580 | 9399 | OMIM:615559 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 | | | | 10 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PRKCD CL E G H | 5580 | 9399 | ORPHA:1572 | Common variable immunodeficiency | | | | 10 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PRKCSH CL E G H | 5589 | 9411 | ORPHA:2924 | Isolated polycystic liver disease | | | | 63 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PSAP CL E G H | 5660 | 9498 | OMIM:611721 | Combined saposin deficiency | | | | 81 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:139406 | Encephalopathy due to prosaposin deficiency | | | | 81 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PSAP CL E G H | 5660 | 9498 | OMIM:610539 | Gaucher disease, atypical | | | | 81 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PSMB10 CL E G H | 5699 | 9538 | OMIM:619175 | PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5; PRAAS5 | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PSMB4 CL E G H | 5692 | 9541 | OMIM:617591 | Proteasome-Associated autoinflammatory syndrome 3 | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PSMB8 CL E G H | 5696 | 9545 | OMIM:256040 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | | | | 20 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PSMB9 CL E G H | 5698 | 9546 | OMIM:617591 | Proteasome-Associated autoinflammatory syndrome 3 | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PSMG2 CL E G H | 56984 | 24929 | OMIM:619183 | PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4 | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PSTPIP1 CL E G H | 9051 | 9580 | OMIM:604416 | Pyogenic sterile arthritis, pyoderma gangrenosum, and acne | | | | 96 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PTEN CL E G H | 5728 | 9588 | OMIM:605309 | Macrocephaly/autism syndrome | | | | 948 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | | | | 948 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:2969 | Proteus-like syndrome | | | | 948 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PTPN11 CL E G H | 5781 | 9644 | ORPHA:648 | Noonan syndrome | | | | 291 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PTPN2 CL E G H | 5771 | 9650 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | 3 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PTPRC CL E G H | 5788 | 9666 | OMIM:619924 | | | | | 25 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PTRH2 CL E G H | 51651 | 24265 | ORPHA:456312 | Infantile multisystem neurologic-endocrine-pancreatic disease | | | | 6 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PTRH2 CL E G H | 51651 | 24265 | OMIM:616263 | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset | | | | 6 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PUS7 CL E G H | 54517 | 26033 | OMIM:618342 | Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PYGL CL E G H | 5836 | 9725 | ORPHA:369 | Glycogen storage disease due to liver glycogen phosphorylase deficiency | | | | 71 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | PYGL CL E G H | 5836 | 9725 | OMIM:232700 | Glycogen storage disease VI | | | | 71 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | RAB27A CL E G H | 5873 | 9766 | ORPHA:79477 | Griscelli syndrome type 2 | | | | 67 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | RAB27A CL E G H | 5873 | 9766 | OMIM:607624 | Griscelli syndrome, type 2 | | | | 67 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | RABL3 CL E G H | 285282 | 18072 | ORPHA:1333 | Familial pancreatic carcinoma | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | RAC2 CL E G H | 5880 | 9802 | OMIM:618986 | IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B | | | | 9 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | RAF1 CL E G H | 5894 | 9829 | ORPHA:648 | Noonan syndrome | | | | 212 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | RAG1 CL E G H | 5896 | 9831 | ORPHA:231154 | Combined immunodeficiency due to partial RAG1 deficiency | | | | 127 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | RAG1 CL E G H | 5896 | 9831 | OMIM:603554 | Omenn syndrome | | | | 127 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | RAG1 CL E G H | 5896 | 9831 | ORPHA:39041 | Omenn syndrome | | | | 127 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | RAG1 CL E G H | 5896 | 9831 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | | | | 127 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | RAG2 CL E G H | 5897 | 9832 | OMIM:603554 | Omenn syndrome | | | | 50 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | RAG2 CL E G H | 5897 | 9832 | ORPHA:39041 | Omenn syndrome | | | | 50 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | RAG2 CL E G H | 5897 | 9832 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | | | | 50 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | RASA2 CL E G H | 5922 | 9872 | ORPHA:648 | Noonan syndrome | | | | 3 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | RASGRP1 CL E G H | 10125 | 9878 | OMIM:618534 | IMMUNODEFICIENCY 64; IMD64 | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | RBCK1 CL E G H | 10616 | 15864 | OMIM:615895 | Polyglucosan body myopathy 1 with or without immunodeficiency | | | | 10 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | RBM8A CL E G H | 9939 | 9905 | OMIM:274000 | Thrombocytopenia-absent radius syndrome | | | | 10 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | REL CL E G H | 5966 | 9954 | OMIM:619652 | IMMUNODEFICIENCY 92; IMD92 | | | | 1 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | RFT1 CL E G H | 91869 | 30220 | OMIM:612015 | Congenital disorder of glycosylation, type IN | | | | 92 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | RFT1 CL E G H | 91869 | 30220 | ORPHA:244310 | RFT1-CDG | | | | 92 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | RHAG CL E G H | 6005 | 10006 | ORPHA:3203 | Overhydrated hereditary stomatocytosis | | | | 13 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | RHAG CL E G H | 6005 | 10006 | OMIM:185000 | Overhydrated hereditary stomatocytosis | | | | 13 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | RHAG CL E G H | 6005 | 10006 | ORPHA:71275 | Rh deficiency syndrome | | | | 13 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | RHBDF2 CL E G H | 79651 | 20788 | ORPHA:2198 | Palmoplantar keratoderma-esophageal carcinoma syndrome | | | | 80 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | RHCE CL E G H | 6006 | 10008 | ORPHA:71275 | Rh deficiency syndrome | | | | 8 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | RHD CL E G H | 6007 | 10009 | OMIM:619462 | Hemolytic disease of fetus and newborn, RH-induced | | | | 16 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | RHD CL E G H | 6007 | 10009 | ORPHA:71275 | Rh deficiency syndrome | | | | 16 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | RINT1 CL E G H | 60561 | 21876 | OMIM:618641 | INFANTILE LIVER FAILURE SYNDROME 3; ILFS3 | | | | 99 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | RIPK1 CL E G H | 8737 | 10019 | OMIM:618852 | AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | RIT1 CL E G H | 6016 | 10023 | ORPHA:648 | Noonan syndrome | | | | 39 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | RMND1 CL E G H | 55005 | 21176 | OMIM:614922 | Combined oxidative phosphorylation deficiency 11 | | | | 26 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | RMRP CL E G H | 6023 | 10031 | ORPHA:175 | Cartilage-hair hypoplasia | | | | 37 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | RMRP CL E G H | 6023 | 10031 | ORPHA:39041 | Omenn syndrome | | | | 37 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | RNASEH2A CL E G H | 10535 | 18518 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 33 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | RNASEH2A CL E G H | 10535 | 18518 | OMIM:610333 | Aicardi-Goutieres syndrome 4 | | | | 33 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | RNASEH2B CL E G H | 79621 | 25671 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 34 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | RNASEH2C CL E G H | 84153 | 24116 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 60 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | RNASEH2C CL E G H | 84153 | 24116 | OMIM:610329 | Aicardi-Goutieres syndrome 3 | | | | 60 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:616651 | Roifman syndrome | | | | 15 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | | | | 15 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | RNU7-1 CL E G H | 100147744 | 34033 | ORPHA:51 | Aicardi-Goutières syndrome | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | RNU7-1 CL E G H | 100147744 | 34033 | OMIM:619487 | AICARDI-GOUTIERES SYNDROME 9; AGS9 | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 167 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | RRAS CL E G H | 6237 | 10447 | ORPHA:648 | Noonan syndrome | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | RRAS2 CL E G H | 22800 | 17271 | ORPHA:648 | Noonan syndrome | | | | 1 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:1775 | Dyskeratosis congenita | | | | 77 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | RUNX1 CL E G H | 861 | 10471 | ORPHA:98850 | Aggressive systemic mastocytosis | | | | 181 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | RUNX1 CL E G H | 861 | 10471 | ORPHA:521 | Chronic myeloid leukemia | | | | 181 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SAA1 CL E G H | 6288 | 10513 | ORPHA:85445 | AA amyloidosis | | | | 2 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SAMD9L CL E G H | 219285 | 1349 | ORPHA:2585 | Ataxia-pancytopenia syndrome | | | | 4 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SAMHD1 CL E G H | 25939 | 15925 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 55 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SBDS CL E G H | 51119 | 19440 | ORPHA:811 | Shwachman-Diamond syndrome | | | | 26 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SBDS CL E G H | 51119 | 19440 | OMIM:260400 | Shwachman-Diamond syndrome 1 | | | | 26 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SC5D CL E G H | 6309 | 10547 | OMIM:607330 | LATHOSTEROLOSIS | | | | 80 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SC5D CL E G H | 6309 | 10547 | ORPHA:46059 | Lathosterolosis | | | | 80 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SCARB2 CL E G H | 950 | 1665 | ORPHA:77259 | Gaucher disease type 1 | | | | 77 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SCO1 CL E G H | 6341 | 10603 | OMIM:619048 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4 | | | | 46 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SCO2 CL E G H | 9997 | 10604 | OMIM:604377 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | | | | 40 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SCYL1 CL E G H | 57410 | 14372 | ORPHA:466794 | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | | | | 5 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SCYL1 CL E G H | 57410 | 14372 | OMIM:616719 | Spinocerebellar ataxia, autosomal recessive 21 | | | | 5 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SDHD CL E G H | 6392 | 10683 | OMIM:619167 | MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3 | | | | 129 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SEC23B CL E G H | 10483 | 10702 | OMIM:224100 | Anemia, dyserythropoietic congenital, type II | | | | 60 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SEC63 CL E G H | 11231 | 21082 | ORPHA:2924 | Isolated polycystic liver disease | | | | 137 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SEC63 CL E G H | 11231 | 21082 | OMIM:617004 | Polycystic liver disease 2 | | | | 137 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SEMA4D CL E G H | 10507 | 10732 | ORPHA:171 | Primary sclerosing cholangitis | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SERPINA1 CL E G H | 5265 | 8941 | ORPHA:60 | Alpha-1-antitrypsin deficiency | | | | 131 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SERPINA1 CL E G H | 5265 | 8941 | OMIM:613490 | Alpha-1-Antitrypsin deficiency | | | | 131 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SF3B1 CL E G H | 23451 | 10768 | ORPHA:75564 | Acquired idiopathic sideroblastic anemia | | | | 19 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SGSH CL E G H | 6448 | 10818 | OMIM:252900 | Mucopolysaccharidosis type IIIA | | | | 97 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SH2B3 CL E G H | 10019 | 29605 | OMIM:133100 | Erythrocytosis, familial, 1 | | | | 4 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SH2B3 CL E G H | 10019 | 29605 | ORPHA:3318 | Essential thrombocythemia | | | | 4 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SH2B3 CL E G H | 10019 | 29605 | OMIM:254450 | Myelofibrosismyelofibrosis with myeloid metaplasia, included | | | | 4 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SH2B3 CL E G H | 10019 | 29605 | OMIM:187950 | THROMBOCYTHEMIA 1; THCYT1 | | | | 4 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SH2D1A CL E G H | 4068 | 10820 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 37 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SKIC2 CL E G H | 6499 | 10898 | ORPHA:84064 | Syndromic diarrhea | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SKIC2 CL E G H | 6499 | 10898 | OMIM:614602 | Trichohepatoenteric syndrome 2 | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SKIC3 CL E G H | 9652 | 23639 | ORPHA:84064 | Syndromic diarrhea | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SKIC3 CL E G H | 9652 | 23639 | OMIM:222470 | Trichohepatoenteric syndrome 1 | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SLC17A5 CL E G H | 26503 | 10933 | OMIM:269920 | Infantile sialic acid storage disease | | | | 78 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SLC20A2 CL E G H | 6575 | 10947 | ORPHA:1980 | Bilateral striopallidodentate calcinosis | | | | 70 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SLC22A5 CL E G H | 6584 | 10969 | OMIM:212140 | Carnitine deficiency, systemic primary | | | | 207 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SLC22A5 CL E G H | 6584 | 10969 | ORPHA:158 | Systemic primary carnitine deficiency | | | | 207 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SLC25A1 CL E G H | 6576 | 10979 | OMIM:615182 | Combined d-2- and l-2-hydroxyglutaric aciduria | | | | 28 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SLC25A13 CL E G H | 10165 | 10983 | ORPHA:247585 | Citrullinemia type II | | | | 82 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SLC25A13 CL E G H | 10165 | 10983 | ORPHA:247598 | Neonatal intrahepatic cholestasis due to citrin deficiency | | | | 82 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SLC25A15 CL E G H | 10166 | 10985 | OMIM:238970 | Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome | | | | 88 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SLC25A15 CL E G H | 10166 | 10985 | ORPHA:415 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | | | | 88 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SLC25A19 CL E G H | 60386 | 14409 | ORPHA:99742 | Amish lethal microcephaly | | | | 36 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SLC25A19 CL E G H | 60386 | 14409 | OMIM:607196 | Microcephaly, Amish type | | | | 36 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SLC25A20 CL E G H | 788 | 1421 | OMIM:212138 | Carnitine-acylcarnitine translocase deficiency | | | | 40 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SLC25A20 CL E G H | 788 | 1421 | ORPHA:159 | Carnitine-acylcarnitine translocase deficiency | | | | 40 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SLC29A3 CL E G H | 55315 | 23096 | ORPHA:168569 | H syndrome | | | | 68 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SLC29A3 CL E G H | 55315 | 23096 | OMIM:602782 | Histiocytosis-lymphadenopathy plus syndrome | | | | 68 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SLC2A1 CL E G H | 6513 | 11005 | OMIM:612126 | Glut1 deficiency syndrome 2 | | | | 255 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:168577 | Hereditary cryohydrocytosis with reduced stomatin | | | | 255 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SLC2A1 CL E G H | 6513 | 11005 | OMIM:608885 | Stomatin-Deficient cryohydrocytosis with neurologic defects | | | | 255 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SLC2A2 CL E G H | 6514 | 11006 | ORPHA:2088 | Fanconi-Bickel syndrome | | | | 71 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SLC30A10 CL E G H | 55532 | 25355 | ORPHA:309854 | Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome | | | | 42 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SLC30A10 CL E G H | 55532 | 25355 | OMIM:613280 | Hypermanganesemia with dystonia 1 | | | | 42 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SLC34A2 CL E G H | 10568 | 11020 | ORPHA:60025 | Pulmonary alveolar microlithiasis | | | | 7 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SLC35C1 CL E G H | 55343 | 20197 | ORPHA:99843 | Leukocyte adhesion deficiency type II | | | | 71 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:619525 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W | | | | 110 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SLC37A4 CL E G H | 2542 | 4061 | ORPHA:79259 | Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib | | | | 110 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:232220 | Glycogen storage disease ib | | | | 110 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:232240 | GLYCOGEN STORAGE DISEASE Ic | | | | 110 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SLC38A3 CL E G H | 10991 | 18044 | OMIM:619881 | | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SLC39A4 CL E G H | 55630 | 17129 | OMIM:201100 | Acrodermatitis enteropathica, Zinc-Deficiency type | | | | 55 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SLC40A1 CL E G H | 30061 | 10909 | OMIM:606069 | Hemochromatosis, type 4 | | | | 56 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SLC4A1 CL E G H | 6521 | 11027 | OMIM:185020 | CRYOHYDROCYTOSIS | | | | 109 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SLC4A1 CL E G H | 6521 | 11027 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | | | | 109 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SLC4A1 CL E G H | 6521 | 11027 | ORPHA:822 | Hereditary spherocytosis | | | | 109 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SLC4A1 CL E G H | 6521 | 11027 | OMIM:611590 | Renal tubular acidosis, distal, with hemolytic anemia | | | | 109 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SLC4A1 CL E G H | 6521 | 11027 | OMIM:612653 | Spherocytosis, type 4 | | | | 109 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SLC7A7 CL E G H | 9056 | 11065 | ORPHA:470 | Lysinuric protein intolerance | | | | 104 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SLC7A7 CL E G H | 9056 | 11065 | OMIM:222700 | Lysinuric protein intolerance | | | | 104 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SLCO2A1 CL E G H | 6578 | 10955 | ORPHA:2796 | Pachydermoperiostosis | | | | 13 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 504 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SMPD1 CL E G H | 6609 | 11120 | ORPHA:77293 | Niemann-Pick disease type B | | | | 164 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SMPD1 CL E G H | 6609 | 11120 | OMIM:257200 | Niemann-Pick disease, type A | | | | 164 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SMPD1 CL E G H | 6609 | 11120 | OMIM:607616 | Niemann-pick disease, type B | | | | 164 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SNX10 CL E G H | 29887 | 14974 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | | | | 2 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SNX10 CL E G H | 29887 | 14974 | OMIM:615085 | Osteopetrosis, autosomal recessive 8 | | | | 2 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SNX14 CL E G H | 57231 | 14977 | ORPHA:397709 | Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome | | | | 14 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SNX14 CL E G H | 57231 | 14977 | OMIM:616354 | Spinocerebellar ataxia, autosomal recessive 20 | | | | 14 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SOCS1 CL E G H | 8651 | 19383 | OMIM:619375 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD | | | | 6 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SOS1 CL E G H | 6654 | 11187 | ORPHA:648 | Noonan syndrome | | | | 315 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SOS2 CL E G H | 6655 | 11188 | ORPHA:648 | Noonan syndrome | | | | 30 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SOX10 CL E G H | 6663 | 11190 | OMIM:609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | | | | 61 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SOX10 CL E G H | 6663 | 11190 | ORPHA:163746 | Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease | | | | 61 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SP110 CL E G H | 3431 | 5401 | ORPHA:79124 | Hepatic veno-occlusive disease-immunodeficiency syndrome | | | | 49 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SPRED2 CL E G H | 200734 | 17722 | ORPHA:648 | Noonan syndrome | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SPTA1 CL E G H | 6708 | 11272 | ORPHA:288 | Hereditary elliptocytosis | | | | 228 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SPTA1 CL E G H | 6708 | 11272 | ORPHA:822 | Hereditary spherocytosis | | | | 228 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SPTB CL E G H | 6710 | 11274 | ORPHA:288 | Hereditary elliptocytosis | | | | 156 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SPTB CL E G H | 6710 | 11274 | ORPHA:822 | Hereditary spherocytosis | | | | 156 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SPTB CL E G H | 6710 | 11274 | OMIM:616649 | SPHEROCYTOSIS, TYPE 2; SPH2 | | | | 156 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SRP54 CL E G H | 6729 | 11301 | ORPHA:811 | Shwachman-Diamond syndrome | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SRP54 CL E G H | 6729 | 11301 | OMIM:260400 | Shwachman-Diamond syndrome 1 | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98850 | Aggressive systemic mastocytosis | | | | 1 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | | | | 1 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | STAT1 CL E G H | 6772 | 11362 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | | | | 89 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | STAT1 CL E G H | 6772 | 11362 | OMIM:614162 | Immunodeficiency 31C | | | | 89 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | STAT3 CL E G H | 6774 | 11364 | OMIM:615952 | AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1 | | | | 110 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:117 | Behçet disease | | | | 2 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | 2 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | STEAP3 CL E G H | 55240 | 24592 | OMIM:615234 | Anemia, hypochromic microcytic, with iron overload 2 | | | | 1 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | STEAP3 CL E G H | 55240 | 24592 | ORPHA:300298 | Severe congenital hypochromic anemia with ringed sideroblasts | | | | 1 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | STX11 CL E G H | 8676 | 11429 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | | | | 85 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | STX11 CL E G H | 8676 | 11429 | OMIM:603552 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4 | | | | 85 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | STXBP2 CL E G H | 6813 | 11445 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | | | | 70 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | STXBP2 CL E G H | 6813 | 11445 | OMIM:613101 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5 | | | | 70 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SUCLG1 CL E G H | 8802 | 11449 | ORPHA:17 | Fatal infantile lactic acidosis with methylmalonic aciduria | | | | 60 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SUMF1 CL E G H | 285362 | 20376 | OMIM:272200 | Multiple sulfatase deficiency | | | | 80 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SUMF1 CL E G H | 285362 | 20376 | ORPHA:585 | Multiple sulfatase deficiency | | | | 80 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SURF1 CL E G H | 6834 | 11474 | OMIM:220110 | Mitochondrial complex IV deficiency | | | | 73 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | SYK CL E G H | 6850 | 11491 | OMIM:619381 | IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82 | | | | 1 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TALDO1 CL E G H | 6888 | 11559 | OMIM:606003 | Transaldolase deficiency | | | | 34 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TALDO1 CL E G H | 6888 | 11559 | ORPHA:101028 | Transaldolase deficiency | | | | 34 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 32 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TBX1 CL E G H | 6899 | 11592 | OMIM:188400 | Digeorge syndrome | | | | 32 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TBXAS1 CL E G H | 6916 | 11609 | ORPHA:1802 | Ghosal hematodiaphyseal dysplasia | | | | 16 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TCF3 CL E G H | 6929 | 11633 | OMIM:619824 | AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B | | | | 2 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TCF4 CL E G H | 6925 | 11634 | ORPHA:171 | Primary sclerosing cholangitis | | | | 241 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | | | | 82 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:210110 | Intermediate osteopetrosis | | | | 82 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TCIRG1 CL E G H | 10312 | 11647 | OMIM:259700 | Osteopetrosis, autosomal recessive 1 | | | | 82 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TERC CL E G H | 7012 | 11727 | ORPHA:1775 | Dyskeratosis congenita | | | | 48 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:1775 | Dyskeratosis congenita | | | | 238 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:75564 | Acquired idiopathic sideroblastic anemia | | | | 3 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:98850 | Aggressive systemic mastocytosis | | | | 3 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:3318 | Essential thrombocythemia | | | | 3 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TET2 CL E G H | 54790 | 25941 | OMIM:619126 | IMMUNODEFICIENCY 75; IMD75 | | | | 3 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:729 | Polycythemia vera | | | | 3 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:824 | Primary myelofibrosis | | | | 3 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | | | | 3 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TFE3 CL E G H | 7030 | 11752 | OMIM:301066 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TGFB1 CL E G H | 7040 | 11766 | ORPHA:1328 | Camurati-Engelmann disease | | | | 13 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TGFB1 CL E G H | 7040 | 11766 | OMIM:219700 | Cystic fibrosis | | | | 13 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | THPO CL E G H | 7066 | 11795 | ORPHA:71493 | Familial thrombocytosis | | | | 23 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | THPO CL E G H | 7066 | 11795 | OMIM:187950 | THROMBOCYTHEMIA 1; THCYT1 | | | | 23 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TIMMDC1 CL E G H | 51300 | 1321 | ORPHA:2609 | Isolated complex I deficiency | | | | 1 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TINF2 CL E G H | 26277 | 11824 | ORPHA:1775 | Dyskeratosis congenita | | | | 60 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TKFC CL E G H | 26007 | 24552 | OMIM:618805 | TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TKT CL E G H | 7086 | 11834 | ORPHA:488618 | Transketolase deficiency | | | | 4 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TLR4 CL E G H | 7099 | 11850 | ORPHA:117 | Behçet disease | | | | 3 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TLR8 CL E G H | 51311 | 15632 | OMIM:301078 | IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98 | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TMEM126B CL E G H | 55863 | 30883 | ORPHA:2609 | Isolated complex I deficiency | | | | 4 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TMEM165 CL E G H | 55858 | 30760 | OMIM:614727 | Congenital disorder of glycosylation, type IIK | | | | 24 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:216360 | Coach syndrome 1 | | | | 166 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 166 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:607361 | Meckel syndrome 3 | | | | 166 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:84081 | Senior-Boichis syndrome | | | | 166 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TMEM70 CL E G H | 54968 | 26050 | ORPHA:1194 | TMEM70-related mitochondrial encephalo-cardio-myopathy | | | | 63 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TNFRSF11A CL E G H | 8792 | 11908 | OMIM:612301 | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7 | | | | 72 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TNFRSF13B CL E G H | 23495 | 18153 | ORPHA:1572 | Common variable immunodeficiency | | | | 32 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TNFRSF13B CL E G H | 23495 | 18153 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 32 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TNFRSF13C CL E G H | 115650 | 17755 | ORPHA:1572 | Common variable immunodeficiency | | | | 12 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TNFRSF13C CL E G H | 115650 | 17755 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 12 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TNFRSF1A CL E G H | 7132 | 11916 | OMIM:142680 | Periodic fever, familial, autosomal dominant | | | | 131 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TNFRSF1A CL E G H | 7132 | 11916 | ORPHA:32960 | Tumor necrosis factor receptor 1 associated periodic syndrome | | | | 131 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TNFRSF1B CL E G H | 7133 | 11917 | ORPHA:2584 | Classic mycosis fungoides | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TNFRSF1B CL E G H | 7133 | 11917 | ORPHA:3162 | Sézary syndrome | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TNFRSF4 CL E G H | 7293 | 11918 | OMIM:615593 | Immunodeficiency 16 | | | | 2 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TNFSF11 CL E G H | 8600 | 11926 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | | | | 44 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TNFSF11 CL E G H | 8600 | 11926 | OMIM:259710 | Osteopetrosis, autosomal recessive 2 | | | | 44 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TNFSF12 CL E G H | 8742 | 11927 | ORPHA:1572 | Common variable immunodeficiency | | | | 1 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TNNI3 CL E G H | 7137 | 11947 | ORPHA:75249 | Familial isolated restrictive cardiomyopathy | | | | 180 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TNNT2 CL E G H | 7139 | 11949 | ORPHA:75249 | Familial isolated restrictive cardiomyopathy | | | | 248 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TOGARAM1 CL E G H | 23116 | 19959 | OMIM:619185 | JOUBERT SYNDROME 37; JBTS37 | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TOM1 CL E G H | 10043 | 11982 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:3318 | Essential thrombocythemia | | | | 911 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 911 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TPI1 CL E G H | 7167 | 12009 | OMIM:615512 | Triosephosphate isomerase deficiency | | | | 28 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TPP2 CL E G H | 7174 | 12016 | ORPHA:444463 | Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TPP2 CL E G H | 7174 | 12016 | OMIM:619220 | IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78 | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TRAPPC11 CL E G H | 60684 | 25751 | OMIM:615356 | Muscular dystrophy, limb-girdle, autosomal recessive 18 | | | | 27 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TRAPPC11 CL E G H | 60684 | 25751 | ORPHA:369840 | TRAPPC11-related limb-girdle muscular dystrophy R18 | | | | 27 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TREX1 CL E G H | 11277 | 12269 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 56 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TREX1 CL E G H | 11277 | 12269 | OMIM:225750 | Aicardi-Goutieres syndrome 1 | | | | 56 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TRIM37 CL E G H | 4591 | 7523 | OMIM:253250 | Mulibrey nanism | | | | 78 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TRIM37 CL E G H | 4591 | 7523 | ORPHA:2576 | Mulibrey nanism | | | | 78 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TRMU CL E G H | 55687 | 25481 | OMIM:613070 | Liver failure, infantile, transient | | | | 101 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TRMU CL E G H | 55687 | 25481 | ORPHA:254864 | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | | | | 101 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TRNE CL E G H | 4556 | 7479 | ORPHA:254864 | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TRNK CL E G H | 4566 | 7489 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TRNN CL E G H | 4570 | 7493 | OMIM:220110 | Mitochondrial complex IV deficiency | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TRNS1 CL E G H | 4574 | 7497 | OMIM:220110 | Mitochondrial complex IV deficiency | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TRNT1 CL E G H | 51095 | 17341 | OMIM:616084 | SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD | | | | 28 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TRNV CL E G H | 4577 | 7500 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TRPV6 CL E G H | 55503 | 14006 | ORPHA:417 | Neonatal severe primary hyperparathyroidism | | | | 4 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TSFM CL E G H | 10102 | 12367 | OMIM:610505 | Combined oxidative phosphorylation deficiency 3 | | | | 43 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TUFM CL E G H | 7284 | 12420 | OMIM:610678 | Combined oxidative phosphorylation deficiency 4 | | | | 55 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TULP3 CL E G H | 7289 | 12425 | OMIM:619902 | | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | TYMS CL E G H | 7298 | 12441 | ORPHA:1775 | Dyskeratosis congenita | | | | 1 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | UBAC2 CL E G H | 337867 | 20486 | ORPHA:117 | Behçet disease | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | UCP2 CL E G H | 7351 | 12518 | ORPHA:276556 | Hyperinsulinism due to UCP2 deficiency | | | | 15 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | UMPS CL E G H | 7372 | 12563 | ORPHA:30 | Hereditary orotic aciduria | | | | 135 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | UNC13D CL E G H | 201294 | 23147 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | | | | 116 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | UNC13D CL E G H | 201294 | 23147 | OMIM:608898 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3 | | | | 116 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | UQCRB CL E G H | 7381 | 12582 | OMIM:615158 | Mitochondrial complex III deficiency, nuclear type 3 | | | | 13 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | UROD CL E G H | 7389 | 12591 | ORPHA:95159 | Hepatoerythropoietic porphyria | | | | 31 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | UROS CL E G H | 7390 | 12592 | ORPHA:79277 | Congenital erythropoietic porphyria | | | | 41 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | UROS CL E G H | 7390 | 12592 | OMIM:263700 | Porphyria, congenital erythropoietic | | | | 41 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | USB1 CL E G H | 79650 | 25792 | ORPHA:1775 | Dyskeratosis congenita | | | | 8 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | USB1 CL E G H | 79650 | 25792 | OMIM:604173 | Poikiloderma with neutropenia | | | | 8 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | USP18 CL E G H | 11274 | 12616 | OMIM:617397 | Pseudo-Torch syndrome 2 | | | | 2 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | USP53 CL E G H | 54532 | 29255 | OMIM:619658 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS; PFIC7 | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | VIPAS39 CL E G H | 63894 | 20347 | OMIM:613404 | Arthrogryposis, renal dysfunction, and cholestasis 2 | | | | 27 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | | | | 130 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | VPS33A CL E G H | 65082 | 18179 | ORPHA:505248 | Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders | | | | 1 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | VPS33A CL E G H | 65082 | 18179 | OMIM:617303 | Mucopolysaccharidosis-Plus syndrome | | | | 1 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | VPS33B CL E G H | 26276 | 12712 | OMIM:620010 | | | | | 63 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | VPS45 CL E G H | 11311 | 14579 | OMIM:615285 | Neutropenia, severe congenital, 5, autosomal recessive | | | | 7 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | VPS4A CL E G H | 27183 | 13488 | OMIM:619273 | CIMDAG SYNDROME; CIMDAG | | | | 1 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | WDR1 CL E G H | 9948 | 12754 | OMIM:150550 | Periodic fever, immunodeficiency, and thrombocytopenia syndrome | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | WDR19 CL E G H | 57728 | 18340 | OMIM:614376 | Short-Rib thoracic dysplasia 5 with or without polydactyly | | | | 95 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | WDR35 CL E G H | 57539 | 29250 | OMIM:613610 | Cranioectodermal dysplasia 2 | | | | 136 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | WRAP53 CL E G H | 55135 | 25522 | ORPHA:1775 | Dyskeratosis congenita | | | | 40 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:83469 | Desmoplastic small round cell tumor | | | | 177 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | XIAP CL E G H | 331 | 592 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 81 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | XIAP CL E G H | 331 | 592 | OMIM:300635 | Lymphoproliferative syndrome, X-linked, 2 | | | | 81 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | XK CL E G H | 7504 | 12811 | OMIM:300842 | Mcleod syndrome | | | | 8 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | XPR1 CL E G H | 9213 | 12827 | ORPHA:1980 | Bilateral striopallidodentate calcinosis | | | | 4 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | XRCC4 CL E G H | 7518 | 12831 | ORPHA:99812 | LIG4 syndrome | | | | 9 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | XYLT1 CL E G H | 64131 | 15516 | ORPHA:370930 | XYLT1-CDG | | | | 14 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | YARS1 CL E G H | 8565 | 12840 | OMIM:619418 | NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2 | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | YARS2 CL E G H | 51067 | 24249 | OMIM:613561 | Myopathy, lactic acidosis, and sideroblastic anemia 2 | | | | 45 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | | | | 46 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ZAP70 CL E G H | 7535 | 12858 | OMIM:269840 | SELECTIVE T-CELL DEFECT | | | | 46 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ZFYVE19 CL E G H | 84936 | 20758 | OMIM:619849 | | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ZIC3 CL E G H | 7547 | 12874 | OMIM:306955 | Heterotaxy, visceral, 1, X-linked | | | | 39 | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0003271 | HP:0003271 | Visceromegaly | 0 | ZNFX1 CL E G H | 57169 | 29271 | OMIM:619644 | IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91 | | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | ABCA1 CL E G H | 19 | 29 | OMIM:205400 | Tangier disease | . | | | 191 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | ABCA1 CL E G H | 19 | 29 | ORPHA:31150 | Tangier disease | | | | 191 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ABCA1 CL E G H | 19 | 29 | ORPHA:31150 | Tangier disease | | | | 191 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ABCA1 CL E G H | 19 | 29 | OMIM:205400 | Tangier disease | . | | | 191 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ABCB11 CL E G H | 8647 | 42 | OMIM:605479 | Cholestasis, benign recurrent intrahepatic, 2 | . | | | 146 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ABCB11 CL E G H | 8647 | 42 | OMIM:601847 | Cholestasis, progressive familial intrahepatic 2 | . | | | 146 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | ABCB11 CL E G H | 8647 | 42 | OMIM:601847 | Cholestasis, progressive familial intrahepatic 2 | . | | | 146 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | ABCB4 CL E G H | 5244 | 45 | OMIM:602347 | Cholestasis, progressive familial intrahepatic, 3 | . | | | 111 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ABCB4 CL E G H | 5244 | 45 | OMIM:602347 | Cholestasis, progressive familial intrahepatic, 3 | . | | | 111 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ABCC2 CL E G H | 1244 | 53 | ORPHA:234 | Dubin-Johnson syndrome | HP:0040283 - Occasional | | | 119 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ABCC8 CL E G H | 6833 | 59 | ORPHA:276575 | Autosomal dominant hyperinsulinism due to SUR1 deficiency | HP:0040283 - Occasional | | | 245 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | ABCD3 CL E G H | 5825 | 67 | OMIM:616278 | BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5 | | | | 5 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ABCD3 CL E G H | 5825 | 67 | OMIM:616278 | BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5 | | | | 5 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | ABCG8 CL E G H | 64241 | 13887 | OMIM:210250 | Sitosterolemia 1 | . | | | 76 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ABHD5 CL E G H | 51099 | 21396 | OMIM:275630 | Chanarin-Dorfman syndrome | . | | | 90 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ABHD5 CL E G H | 51099 | 21396 | ORPHA:98907 | Neutral lipid storage disease with ichthyosis | HP:0040282 - Frequent | | | 90 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | ABL1 CL E G H | 25 | 76 | ORPHA:521 | Chronic myeloid leukemia | HP:0040282 - Frequent | | | 51 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ACADM CL E G H | 34 | 89 | OMIM:201450 | Acyl-Coa dehydrogenase, medium-chain, deficiency of | . | | | 197 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ACADM CL E G H | 34 | 89 | ORPHA:42 | Medium chain acyl-CoA dehydrogenase deficiency | HP:0040282 - Frequent | | | 197 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ACADVL CL E G H | 37 | 92 | ORPHA:26793 | Very long chain acyl-CoA dehydrogenase deficiency | HP:0040283 - Occasional | | | 200 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ACADVL CL E G H | 37 | 92 | OMIM:201475 | Very long-chain acyl-CoA dehydrogenase deficiency | | | | 200 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ACAT1 CL E G H | 38 | 93 | ORPHA:134 | Beta-ketothiolase deficiency | HP:0040283 - Occasional | | | 91 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ACOX1 CL E G H | 51 | 119 | OMIM:264470 | Peroxisomal acyl-coa oxidase deficiency | . | | | 120 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ACOX1 CL E G H | 51 | 119 | ORPHA:2971 | Peroxisomal acyl-CoA oxidase deficiency | HP:0040282 - Frequent | | | 120 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | ADA CL E G H | 100 | 186 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 75 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ADA CL E G H | 100 | 186 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 75 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ADA CL E G H | 100 | 186 | OMIM:102700 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | . | | | 75 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | ADA CL E G H | 100 | 186 | OMIM:102700 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | . | | | 75 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ADA2 CL E G H | 51816 | 1839 | OMIM:615688 | Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome | | | | 22 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | ADA2 CL E G H | 51816 | 1839 | OMIM:615688 | Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome | | | | 22 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | ADAMTS3 CL E G H | 9508 | 219 | ORPHA:2136 | Hennekam syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ADAMTSL2 CL E G H | 9719 | 14631 | OMIM:231050 | Geleophysic dysplasia 1 | . | | | 72 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 116 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 116 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | ADAR CL E G H | 103 | 225 | OMIM:615010 | Aicardi-Goutieres syndrome 6 | | | | 116 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ADAR CL E G H | 103 | 225 | OMIM:615010 | Aicardi-Goutieres syndrome 6 | | | | 116 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | AFF4 CL E G H | 27125 | 17869 | OMIM:616368 | CHOPS syndrome | | | | 6 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | AGA CL E G H | 175 | 318 | ORPHA:93 | Aspartylglucosaminuria | HP:0040283 - Occasional | | | 76 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | AGA CL E G H | 175 | 318 | OMIM:208400 | ASPARTYLGLUCOSAMINURIA | . | | | 76 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | AGA CL E G H | 175 | 318 | ORPHA:93 | Aspartylglucosaminuria | HP:0040283 - Occasional | | | 76 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | AGGF1 CL E G H | 55109 | 24684 | ORPHA:90308 | Klippel-Trénaunay syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | AGL CL E G H | 178 | 321 | OMIM:232400 | Glycogen storage disease III | . | | | 216 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | AGPAT2 CL E G H | 10555 | 325 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040281 - Very frequent | | | 85 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | AGPAT2 CL E G H | 10555 | 325 | OMIM:608594 | Lipodystrophy, congenital generalized, type 1 | . | | | 85 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | AGPAT2 CL E G H | 10555 | 325 | OMIM:608594 | Lipodystrophy, congenital generalized, type 1 | . | | | 85 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | AKR1D1 CL E G H | 6718 | 388 | OMIM:235555 | Bile acid synthesis defect, congenital, 2 | . | | | 62 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | AKR1D1 CL E G H | 6718 | 388 | OMIM:235555 | Bile acid synthesis defect, congenital, 2 | . | | | 62 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | AKR1D1 CL E G H | 6718 | 388 | ORPHA:79303 | Congenital bile acid synthesis defect type 2 | HP:0040281 - Very frequent | | | 62 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | HP:0040283 - Occasional | | | 54 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | AKT1 CL E G H | 207 | 391 | OMIM:176920 | Proteus syndrome, somatic | . | | | 54 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | AKT2 CL E G H | 208 | 392 | ORPHA:79085 | AKT2-related familial partial lipodystrophy | HP:0040281 - Very frequent | | | 12 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | ALAS2 CL E G H | 212 | 397 | ORPHA:75563 | X-linked sideroblastic anemia | HP:0040283 - Occasional | | | 72 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ALDH1A2 CL E G H | 8854 | 15472 | OMIM:620025 | | | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | ALDOA CL E G H | 226 | 414 | OMIM:611881 | Glycogen storage disease XII | . | | | 50 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ALDOA CL E G H | 226 | 414 | OMIM:611881 | Glycogen storage disease XII | | | | 50 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ALDOB CL E G H | 229 | 417 | OMIM:229600 | Fructose intolerance, hereditary | . | | | 73 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ALDOB CL E G H | 229 | 417 | ORPHA:469 | Hereditary fructose intolerance | HP:0040283 - Occasional | | | 73 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ALG1 CL E G H | 56052 | 18294 | OMIM:608540 | Congenital disorder of glycosylation, type Ik | . | | | 58 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | ALG1 CL E G H | 56052 | 18294 | OMIM:608540 | Congenital disorder of glycosylation, type Ik | . | | | 58 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ALG13 CL E G H | 79868 | 30881 | OMIM:300884 | Epileptic encephalopathy, early infantile, 36 | . | | | 96 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ALG2 CL E G H | 85365 | 23159 | ORPHA:79326 | ALG2-CDG | HP:0040283 - Occasional | | | 46 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ALG2 CL E G H | 85365 | 23159 | OMIM:607906 | Congenital disorder of glycosylation, type Ii | . | | | 46 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ALG8 CL E G H | 79053 | 23161 | OMIM:608104 | Congenital disorder of glycosylation, type Ih | . | | | 46 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ALG9 CL E G H | 79796 | 15672 | ORPHA:79328 | ALG9-CDG | HP:0040282 - Frequent | | | 93 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ALG9 CL E G H | 79796 | 15672 | OMIM:608776 | Congenital disorder of glycosylation, type Il | . | | | 93 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | ALG9 CL E G H | 79796 | 15672 | OMIM:608776 | Congenital disorder of glycosylation, type Il | | | | 93 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | HP:0040283 - Occasional | | | 404 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | HP:0040283 - Occasional | | | 404 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ALMS1 CL E G H | 7840 | 428 | OMIM:203800 | Alstrom syndrome | . | | | 404 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | ALPK1 CL E G H | 80216 | 20917 | OMIM:614979 | Splenomegaly, cytopenia, and vision loss | . | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | AMACR CL E G H | 23600 | 451 | OMIM:214950 | Bile acid synthesis defect, congenital, 4 | . | | | 44 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | ANK1 CL E G H | 286 | 492 | ORPHA:251066 | 8p11.2 deletion syndrome | HP:0040283 - Occasional | | | 150 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ANK1 CL E G H | 286 | 492 | ORPHA:822 | Hereditary spherocytosis | HP:0040282 - Frequent | | | 150 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | ANK1 CL E G H | 286 | 492 | ORPHA:822 | Hereditary spherocytosis | HP:0040282 - Frequent | | | 150 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | ANK1 CL E G H | 286 | 492 | OMIM:182900 | Spherocytosis, type 1 | . | | | 150 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ANKRD55 CL E G H | 79722 | 25681 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | ANKRD55 CL E G H | 79722 | 25681 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ANTXR1 CL E G H | 84168 | 21014 | OMIM:230740 | Gapo syndrome | . | | | 8 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | AP3D1 CL E G H | 8943 | 568 | OMIM:617050 | HERMANSKY-PUDLAK SYNDROME 10; HPS10 | | | | 1 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | AP3D1 CL E G H | 8943 | 568 | OMIM:617050 | HERMANSKY-PUDLAK SYNDROME 10; HPS10 | | | | 1 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | APOA1 CL E G H | 335 | 600 | OMIM:105200 | Amyloidosis, familial visceral | . | | | 40 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | APOA1 CL E G H | 335 | 600 | OMIM:105200 | Amyloidosis, familial visceral | . | | | 40 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | APOC2 CL E G H | 344 | 609 | OMIM:207750 | APOLIPOPROTEIN C-II DEFICIENCY | | | | 27 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | APOC2 CL E G H | 344 | 609 | OMIM:207750 | APOLIPOPROTEIN C-II DEFICIENCY | | | | 27 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | APOE CL E G H | 348 | 613 | ORPHA:412 | Dysbetalipoproteinemia | HP:0040282 - Frequent | | | 39 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | APOE CL E G H | 348 | 613 | OMIM:269600 | Sea-Blue histiocyte disease | . | | | 39 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | APOE CL E G H | 348 | 613 | ORPHA:158029 | Sea-blue histiocytosis | HP:0040281 - Very frequent | | | 39 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | APOE CL E G H | 348 | 613 | ORPHA:158029 | Sea-blue histiocytosis | HP:0040281 - Very frequent | | | 39 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ARG1 CL E G H | 383 | 663 | OMIM:207800 | Argininemia | | | | 31 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ARL13B CL E G H | 200894 | 25419 | OMIM:612291 | JOUBERT SYNDROME 8; JBTS8 | | | | 62 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ARSB CL E G H | 411 | 714 | OMIM:253200 | Mucopolysaccharidosis, type VI | . | | | 120 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | ARSB CL E G H | 411 | 714 | OMIM:253200 | Mucopolysaccharidosis, type VI | . | | | 120 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | ASAH1 CL E G H | 427 | 735 | ORPHA:333 | Farber disease | | | | 78 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ASAH1 CL E G H | 427 | 735 | ORPHA:333 | Farber disease | | | | 78 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ASAH1 CL E G H | 427 | 735 | OMIM:228000 | Farber lipogranulomatosis | . | | | 78 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | ASAH1 CL E G H | 427 | 735 | OMIM:228000 | Farber lipogranulomatosis | . | | | 78 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ASL CL E G H | 435 | 746 | OMIM:207900 | Argininosuccinic aciduria | . | | | 81 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ASS1 CL E G H | 445 | 758 | OMIM:215700 | Citrullinemia, classic | . | | | 119 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98850 | Aggressive systemic mastocytosis | | | | 145 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98850 | Aggressive systemic mastocytosis | | | | 145 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040283 - Occasional | | | 145 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040283 - Occasional | | | 145 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ATAD3A CL E G H | 55210 | 25567 | OMIM:618810 | PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL | | | | 5 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | ATM CL E G H | 472 | 795 | ORPHA:52416 | Mantle cell lymphoma | HP:0040282 - Frequent | | | 3267 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ATP6 CL E G H | 4508 | 7414 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | ATP6AP1 CL E G H | 537 | 868 | OMIM:300972 | IMMUNODEFICIENCY 47; IMD47 | | | | 5 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ATP6AP1 CL E G H | 537 | 868 | OMIM:300972 | IMMUNODEFICIENCY 47; IMD47 | | | | 5 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:301045 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R | | | | 36 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:3473 | Zimmermann-Laband syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:3473 | Zimmermann-Laband syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ATP7B CL E G H | 540 | 870 | ORPHA:905 | Wilson disease | HP:0040281 - Very frequent | | | 315 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | ATP7B CL E G H | 540 | 870 | ORPHA:905 | Wilson disease | HP:0040281 - Very frequent | | | 315 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | . | | | 315 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | | | | 315 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ATP8B1 CL E G H | 5205 | 3706 | OMIM:243300 | Cholestasis, benign recurrent intrahepatic 1 | . | | | 144 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ATP8B1 CL E G H | 5205 | 3706 | OMIM:211600 | Cholestasis, progressive familial intrahepatic 1 | | | | 144 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | ATP8B1 CL E G H | 5205 | 3706 | OMIM:211600 | Cholestasis, progressive familial intrahepatic 1 | | | | 144 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ATPAF2 CL E G H | 91647 | 18802 | OMIM:604273 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 1 | . | | | 32 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | ATRX CL E G H | 546 | 886 | ORPHA:231401 | Alpha-thalassemia-myelodysplastic syndrome | HP:0040283 - Occasional | | | 169 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ATRX CL E G H | 546 | 886 | ORPHA:100075 | Neuroendocrine tumor of stomach | HP:0040283 - Occasional | | | 169 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | AUH CL E G H | 549 | 890 | ORPHA:67046 | 3-methylglutaconic aciduria type 1 | HP:0040283 - Occasional | | | 49 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | B2M CL E G H | 567 | 914 | OMIM:105200 | Amyloidosis, familial visceral | . | | | 8 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | B2M CL E G H | 567 | 914 | OMIM:105200 | Amyloidosis, familial visceral | . | | | 8 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | B4GALT1 CL E G H | 2683 | 924 | ORPHA:79332 | B4GALT1-CDG | | | | 85 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | B4GALT1 CL E G H | 2683 | 924 | ORPHA:79332 | B4GALT1-CDG | | | | 85 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | BAAT CL E G H | 570 | 932 | OMIM:619232 | BILE ACID CONJUGATION DEFECT 1; BACD1 | | | | 63 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | BACH2 CL E G H | 60468 | 14078 | OMIM:618394 | IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60 | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | BAP1 CL E G H | 8314 | 950 | ORPHA:50251 | Pleural mesothelioma | HP:0040283 - Occasional | | | 184 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | BCL11A CL E G H | 53335 | 13221 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 11 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | BCL2 CL E G H | 596 | 990 | ORPHA:545 | Follicular lymphoma | HP:0040282 - Frequent | | | 1 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | BCL6 CL E G H | 604 | 1001 | ORPHA:545 | Follicular lymphoma | HP:0040282 - Frequent | | | 1 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | BCR CL E G H | 613 | 1014 | ORPHA:521 | Chronic myeloid leukemia | HP:0040282 - Frequent | | | 5 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | BMP2 CL E G H | 650 | 1069 | OMIM:235200 | Hemochromatosis, type 1 | . | | | 13 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | BMP2 CL E G H | 650 | 1069 | OMIM:235200 | Hemochromatosis, type 1 | . | | | 13 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | BMP6 CL E G H | 654 | 1073 | ORPHA:465508 | Symptomatic form of hemochromatosis type 1 | HP:0040283 - Occasional | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | BMP6 CL E G H | 654 | 1073 | ORPHA:465508 | Symptomatic form of hemochromatosis type 1 | HP:0040282 - Frequent | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | BOLA3 CL E G H | 388962 | 24415 | OMIM:614299 | Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia | . | | | 14 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | . | | | 276 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | BRCA1 CL E G H | 672 | 1100 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 5769 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | BRCA1 CL E G H | 672 | 1100 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 5769 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | BRCA2 CL E G H | 675 | 1101 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 7642 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | BRCA2 CL E G H | 675 | 1101 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 7642 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040281 - Very frequent | | | 105 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | BSCL2 CL E G H | 26580 | 15832 | OMIM:615924 | Encephalopathy, progressive, with or without lipodystrophy | HP:0040283 - Occasional | | | 105 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | BSCL2 CL E G H | 26580 | 15832 | OMIM:269700 | Lipodystrophy, congenital generalized, type 2 | . | | | 105 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | BSCL2 CL E G H | 26580 | 15832 | OMIM:269700 | Lipodystrophy, congenital generalized, type 2 | . | | | 105 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:363400 | Severe neurodegenerative syndrome with lipodystrophy | HP:0040283 - Occasional | | | 105 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | BTD CL E G H | 686 | 1122 | OMIM:253260 | Biotinidase deficiencymultiple carboxylase deficiency, late-onset | . | | | 223 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | BTD CL E G H | 686 | 1122 | OMIM:253260 | Biotinidase deficiencymultiple carboxylase deficiency, late-onset | . | | | 223 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | HP:0040283 - Occasional | | | 1 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | BTNL2 CL E G H | 56244 | 1142 | OMIM:612387 | Sarcoidosis, susceptibility to, 2 | . | | | 1 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | BTNL2 CL E G H | 56244 | 1142 | OMIM:612387 | Sarcoidosis, susceptibility to, 2 | . | | | 1 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | C1QBP CL E G H | 708 | 1243 | OMIM:617713 | Combined oxidative phosphorylation deficiency 33 | HP:0040284 - Very rare | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | C2ORF69 CL E G H | 205327 | 26799 | OMIM:619423 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53 | | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | C4A CL E G H | 720 | 1323 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 1 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CA2 CL E G H | 760 | 1373 | ORPHA:2785 | Osteopetrosis with renal tubular acidosis | HP:0040281 - Very frequent | | | 29 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CA2 CL E G H | 760 | 1373 | OMIM:259730 | Osteopetrosis, autosomal recessive 3 | | | | 29 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CA2 CL E G H | 760 | 1373 | OMIM:259730 | Osteopetrosis, autosomal recessive 3 | | | | 29 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CALR CL E G H | 811 | 1455 | ORPHA:131 | Budd-Chiari syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CALR CL E G H | 811 | 1455 | ORPHA:131 | Budd-Chiari syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CALR CL E G H | 811 | 1455 | ORPHA:3318 | Essential thrombocythemia | HP:0040282 - Frequent | | | 1 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CALR CL E G H | 811 | 1455 | OMIM:254450 | Myelofibrosismyelofibrosis with myeloid metaplasia, included | | | | 1 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CALR CL E G H | 811 | 1455 | ORPHA:824 | Primary myelofibrosis | HP:0040282 - Frequent | | | 1 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CALR CL E G H | 811 | 1455 | ORPHA:824 | Primary myelofibrosis | HP:0040282 - Frequent | | | 1 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CALR CL E G H | 811 | 1455 | OMIM:187950 | THROMBOCYTHEMIA 1; THCYT1 | | | | 1 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CARD11 CL E G H | 84433 | 16393 | OMIM:616452 | B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA | | | | 45 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CASK CL E G H | 8573 | 1497 | OMIM:300908 | Anemia, nonspherocytic hemolytic, due to g6pd deficiency | HP:0040284 - Very rare | | | 118 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040281 - Very frequent | | | 87 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040282 - Frequent | | | 87 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CASP10 CL E G H | 843 | 1500 | OMIM:603909 | Autoimmune lymphoproliferative syndrome, type IIA | | | | 87 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CASP10 CL E G H | 843 | 1500 | OMIM:603909 | Autoimmune lymphoproliferative syndrome, type IIA | | | | 87 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CASP8 CL E G H | 841 | 1509 | OMIM:607271 | CASPASE 8 DEFICIENCY | | | | 37 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CASR CL E G H | 846 | 1514 | OMIM:239200 | Hyperparathyroidism, neonatal severe | . | | | 272 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CASR CL E G H | 846 | 1514 | OMIM:239200 | Hyperparathyroidism, neonatal severe | . | | | 272 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CASR CL E G H | 846 | 1514 | ORPHA:417 | Neonatal severe primary hyperparathyroidism | HP:0040281 - Very frequent | | | 272 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CASR CL E G H | 846 | 1514 | ORPHA:417 | Neonatal severe primary hyperparathyroidism | HP:0040281 - Very frequent | | | 272 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CAV1 CL E G H | 857 | 1527 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040281 - Very frequent | | | 11 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CAV1 CL E G H | 857 | 1527 | OMIM:612526 | Lipodystrophy, congenital generalized, type 3 | . | | | 11 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CAV1 CL E G H | 857 | 1527 | OMIM:612526 | Lipodystrophy, congenital generalized, type 3 | . | | | 11 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CAVIN1 CL E G H | 284119 | 9688 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040281 - Very frequent | | | 48 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CAVIN1 CL E G H | 284119 | 9688 | OMIM:613327 | Lipodystrophy, congenital generalized, type 4 | . | | | 48 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CAVIN1 CL E G H | 284119 | 9688 | OMIM:613327 | Lipodystrophy, congenital generalized, type 4 | . | | | 48 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CBL CL E G H | 867 | 1541 | ORPHA:98850 | Aggressive systemic mastocytosis | | | | 317 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CBL CL E G H | 867 | 1541 | ORPHA:98850 | Aggressive systemic mastocytosis | | | | 317 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CBL CL E G H | 867 | 1541 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | 317 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CBS CL E G H | 875 | 1550 | ORPHA:394 | Classic homocystinuria | HP:0040283 - Occasional | | | 242 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040281 - Very frequent | | | 247 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040283 - Occasional | | | 247 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CCBE1 CL E G H | 147372 | 29426 | ORPHA:2136 | Hennekam syndrome | HP:0040282 - Frequent | | | 147 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CCDC115 CL E G H | 84317 | 28178 | OMIM:616828 | Congenital disorder of glycosylation, type IIO | . | | | 3 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CCDC115 CL E G H | 84317 | 28178 | OMIM:616828 | Congenital disorder of glycosylation, type IIO | . | | | 3 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CCDC47 CL E G H | 57003 | 24856 | OMIM:618268 | Trichohepatoneurodevelopmental syndrome | HP:0040284 - Very rare | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CCDC47 CL E G H | 57003 | 24856 | OMIM:618268 | Trichohepatoneurodevelopmental syndrome | HP:0040284 - Very rare | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CCND1 CL E G H | 595 | 1582 | ORPHA:52416 | Mantle cell lymphoma | HP:0040282 - Frequent | | | 1 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CCND1 CL E G H | 595 | 1582 | ORPHA:29073 | Multiple myeloma | HP:0040284 - Very rare | | | 1 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CCR1 CL E G H | 1230 | 1602 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CD19 CL E G H | 930 | 1633 | ORPHA:1572 | Common variable immunodeficiency | HP:0040282 - Frequent | | | 38 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CD19 CL E G H | 930 | 1633 | OMIM:240500 | Immunodeficiency, common variable, 2 | . | | | 38 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CD19 CL E G H | 930 | 1633 | OMIM:240500 | Immunodeficiency, common variable, 2 | . | | | 38 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CD247 CL E G H | 919 | 1677 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | 8 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CD247 CL E G H | 919 | 1677 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | 8 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CD247 CL E G H | 919 | 1677 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 8 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CD247 CL E G H | 919 | 1677 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 8 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CD27 CL E G H | 939 | 11922 | OMIM:615122 | Lymphoproliferative syndrome 2 | | | | 4 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CD27 CL E G H | 939 | 11922 | OMIM:615122 | Lymphoproliferative syndrome 2 | | | | 4 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CD28 CL E G H | 940 | 1653 | ORPHA:2584 | Classic mycosis fungoides | HP:0040283 - Occasional | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CD28 CL E G H | 940 | 1653 | ORPHA:2584 | Classic mycosis fungoides | HP:0040283 - Occasional | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CD28 CL E G H | 940 | 1653 | ORPHA:3162 | Sézary syndrome | HP:0040282 - Frequent | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CD28 CL E G H | 940 | 1653 | ORPHA:3162 | Sézary syndrome | HP:0040282 - Frequent | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CD3D CL E G H | 915 | 1673 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 18 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CD3D CL E G H | 915 | 1673 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 18 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CD3E CL E G H | 916 | 1674 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 24 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CD3E CL E G H | 916 | 1674 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 24 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CD40LG CL E G H | 959 | 11935 | OMIM:308230 | Immunodeficiency, X-linked, with hyper-IgM | . | | | 33 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CD40LG CL E G H | 959 | 11935 | OMIM:308230 | Immunodeficiency, X-linked, with hyper-IgM | . | | | 33 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CD55 CL E G H | 1604 | 2665 | OMIM:226300 | Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy | . | | | 9 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CD70 CL E G H | 970 | 11937 | OMIM:618261 | LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3 | | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CD70 CL E G H | 970 | 11937 | OMIM:618261 | LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3 | | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CD81 CL E G H | 975 | 1701 | ORPHA:1572 | Common variable immunodeficiency | HP:0040282 - Frequent | | | 1 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CD81 CL E G H | 975 | 1701 | OMIM:613496 | Immunodeficiency, common variable, 6 | | | | 1 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CD96 CL E G H | 10225 | 16892 | OMIM:211750 | C syndrome | . | | | 83 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CDAN1 CL E G H | 146059 | 1713 | OMIM:224120 | Anemia, congenital dyserythropoietic, type Ia | . | | | 86 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CDAN1 CL E G H | 146059 | 1713 | OMIM:224120 | Anemia, congenital dyserythropoietic, type Ia | | | | 86 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CDIN1 CL E G H | 84529 | 26929 | OMIM:615631 | Anemia, congenital dyserythropoietic, type Ib | . | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CDIN1 CL E G H | 84529 | 26929 | OMIM:615631 | Anemia, congenital dyserythropoietic, type Ib | . | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CDKN1C CL E G H | 1028 | 1786 | OMIM:130650 | Beckwith-Wiedemann syndrome | . | | | 114 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 289 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 289 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CFAP410 CL E G H | 755 | 1260 | OMIM:602271 | Spondylometaphyseal dysplasia, axial | HP:0040284 - Very rare | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CFTR CL E G H | 1080 | 1884 | OMIM:219700 | Cystic fibrosis | | | | 1371 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CFTR CL E G H | 1080 | 1884 | OMIM:219700 | Cystic fibrosis | | | | 1371 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CHD7 CL E G H | 55636 | 20626 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 515 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CHD7 CL E G H | 55636 | 20626 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 515 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CIDEC CL E G H | 63924 | 24229 | ORPHA:435651 | CIDEC-related familial partial lipodystrophy | HP:0040281 - Very frequent | | | 8 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CIDEC CL E G H | 63924 | 24229 | OMIM:615238 | Lipodystrophy, familial partial, type 5 | . | | | 8 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CLCN7 CL E G H | 1186 | 2025 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | HP:0040281 - Very frequent | | | 102 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CLCN7 CL E G H | 1186 | 2025 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | HP:0040281 - Very frequent | | | 102 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CLCN7 CL E G H | 1186 | 2025 | OMIM:618541 | Hypopigmentation, organomegaly, and delayed myelination and development | . | | | 102 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CLCN7 CL E G H | 1186 | 2025 | OMIM:618541 | Hypopigmentation, organomegaly, and delayed myelination and development | . | | | 102 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CLCN7 CL E G H | 1186 | 2025 | ORPHA:210110 | Intermediate osteopetrosis | | | | 102 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CLCN7 CL E G H | 1186 | 2025 | ORPHA:210110 | Intermediate osteopetrosis | | | | 102 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CLCN7 CL E G H | 1186 | 2025 | OMIM:611490 | Osteopetrosis, autosomal recessive 4 | . | | | 102 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CLCN7 CL E G H | 1186 | 2025 | OMIM:611490 | Osteopetrosis, autosomal recessive 4 | . | | | 102 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CLDN1 CL E G H | 9076 | 2032 | OMIM:607626 | Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis | . | | | 11 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CLDN1 CL E G H | 9076 | 2032 | ORPHA:59303 | Neonatal ichthyosis-sclerosing cholangitis syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CLDN1 CL E G H | 9076 | 2032 | ORPHA:59303 | Neonatal ichthyosis-sclerosing cholangitis syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CLPB CL E G H | 81570 | 30664 | OMIM:619813 | NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT; SCN9 | | | | 38 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CNTNAP2 CL E G H | 26047 | 13830 | ORPHA:163681 | CNTNAP2-related developmental and epileptic encephalopathy | | | | 518 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | COA8 CL E G H | 84334 | 20492 | ORPHA:436271 | Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy | HP:0040282 - Frequent | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | COG1 CL E G H | 9382 | 6545 | ORPHA:263508 | COG1-CDG | | | | 52 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | COG1 CL E G H | 9382 | 6545 | ORPHA:263508 | COG1-CDG | | | | 52 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | COG4 CL E G H | 25839 | 18620 | ORPHA:263501 | COG4-CDG | | | | 67 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | COG4 CL E G H | 25839 | 18620 | ORPHA:263501 | COG4-CDG | | | | 67 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | COG4 CL E G H | 25839 | 18620 | OMIM:613489 | Congenital disorder of glycosylation, type IIj | HP:0040283 - Occasional | | | 67 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | COG4 CL E G H | 25839 | 18620 | OMIM:613489 | Congenital disorder of glycosylation, type IIj | HP:0040283 - Occasional | | | 67 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | COG5 CL E G H | 10466 | 14857 | ORPHA:263487 | COG5-CDG | | | | 79 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | COG5 CL E G H | 10466 | 14857 | ORPHA:263487 | COG5-CDG | HP:0040283 - Occasional | | | 79 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | COG6 CL E G H | 57511 | 18621 | OMIM:614576 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L | | | | 71 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | COG6 CL E G H | 57511 | 18621 | OMIM:614576 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L | | | | 71 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | COG7 CL E G H | 91949 | 18622 | ORPHA:79333 | COG7-CDG | | | | 64 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | COG7 CL E G H | 91949 | 18622 | ORPHA:79333 | COG7-CDG | | | | 64 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | COG7 CL E G H | 91949 | 18622 | OMIM:608779 | Congenital disorder of glycosylation, type IIe | . | | | 64 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | COG7 CL E G H | 91949 | 18622 | OMIM:608779 | Congenital disorder of glycosylation, type IIe | . | | | 64 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | COX10 CL E G H | 1352 | 2260 | OMIM:619046 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3 | | | | 82 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | COX14 CL E G H | 84987 | 28216 | OMIM:619053 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10 | | | | 4 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | COX4I2 CL E G H | 84701 | 16232 | OMIM:612714 | Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis | . | | | 13 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | COX4I2 CL E G H | 84701 | 16232 | OMIM:612714 | Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis | . | | | 13 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | COX5A CL E G H | 9377 | 2267 | OMIM:619064 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20 | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CPOX CL E G H | 1371 | 2321 | OMIM:121300 | Coproporphyria | . | | | 72 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CPOX CL E G H | 1371 | 2321 | OMIM:121300 | Coproporphyria | . | | | 72 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CPOX CL E G H | 1371 | 2321 | OMIM:618892 | Harderoporphyria | . | | | 72 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CPOX CL E G H | 1371 | 2321 | OMIM:618892 | Harderoporphyria | . | | | 72 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CPT1A CL E G H | 1374 | 2328 | ORPHA:156 | Carnitine palmitoyl transferase 1A deficiency | HP:0040282 - Frequent | | | 99 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CPT1A CL E G H | 1374 | 2328 | OMIM:255120 | Carnitine palmitoyltransferase I deficiency | . | | | 99 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228308 | Carnitine palmitoyl transferase II deficiency, neonatal form | HP:0040282 - Frequent | | | 101 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228305 | Carnitine palmitoyl transferase II deficiency, severe infantile form | HP:0040283 - Occasional | | | 101 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CPT2 CL E G H | 1376 | 2330 | OMIM:600649 | Carnitine palmitoyltransferase II deficiency, infantile | | | | 101 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CPT2 CL E G H | 1376 | 2330 | OMIM:608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | . | | | 101 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CR2 CL E G H | 1380 | 2336 | ORPHA:1572 | Common variable immunodeficiency | HP:0040282 - Frequent | | | 10 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CR2 CL E G H | 1380 | 2336 | OMIM:240500 | Immunodeficiency, common variable, 2 | . | | | 10 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CR2 CL E G H | 1380 | 2336 | OMIM:240500 | Immunodeficiency, common variable, 2 | . | | | 10 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CR2 CL E G H | 1380 | 2336 | OMIM:614699 | IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7 | | | | 10 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CSF3R CL E G H | 1441 | 2439 | OMIM:162830 | Neutrophilia, hereditary | | | | 34 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CSF3R CL E G H | 1441 | 2439 | OMIM:162830 | Neutrophilia, hereditary | | | | 34 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CTC1 CL E G H | 80169 | 26169 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 160 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CTC1 CL E G H | 80169 | 26169 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 160 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CTLA4 CL E G H | 1493 | 2505 | OMIM:616100 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5 | | | | 10 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CTLA4 CL E G H | 1493 | 2505 | OMIM:616100 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5 | | | | 10 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:2584 | Classic mycosis fungoides | HP:0040283 - Occasional | | | 10 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:2584 | Classic mycosis fungoides | HP:0040283 - Occasional | | | 10 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:3162 | Sézary syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:3162 | Sézary syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:33402 | Pediatric hepatocellular carcinoma | HP:0040281 - Very frequent | | | 88 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | . | | | 178 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | . | | | 178 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CTSA CL E G H | 5476 | 9251 | OMIM:256540 | Galactosialidosis | | | | 51 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CTSA CL E G H | 5476 | 9251 | OMIM:256540 | Galactosialidosis | | | | 51 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CTSK CL E G H | 1513 | 2536 | ORPHA:763 | Pycnodysostosis | HP:0040283 - Occasional | | | 39 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CTSK CL E G H | 1513 | 2536 | ORPHA:763 | Pycnodysostosis | HP:0040283 - Occasional | | | 39 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CYBA CL E G H | 1535 | 2577 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | 27 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CYBA CL E G H | 1535 | 2577 | ORPHA:379 | Chronic granulomatous disease | HP:0040283 - Occasional | | | 27 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CYBA CL E G H | 1535 | 2577 | OMIM:233690 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE | . | | | 27 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CYBA CL E G H | 1535 | 2577 | OMIM:233690 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE | . | | | 27 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CYBB CL E G H | 1536 | 2578 | ORPHA:379 | Chronic granulomatous disease | HP:0040283 - Occasional | | | 111 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CYBB CL E G H | 1536 | 2578 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | 111 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CYBB CL E G H | 1536 | 2578 | OMIM:306400 | Chronic granulomatous disease, X-linked | . | | | 111 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CYBB CL E G H | 1536 | 2578 | OMIM:306400 | Chronic granulomatous disease, X-linked | . | | | 111 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CYBC1 CL E G H | 79415 | 28672 | ORPHA:379 | Chronic granulomatous disease | HP:0040283 - Occasional | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CYBC1 CL E G H | 79415 | 28672 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CYBC1 CL E G H | 79415 | 28672 | OMIM:618935 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5 | | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CYBC1 CL E G H | 79415 | 28672 | OMIM:618935 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5 | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CYP7B1 CL E G H | 9420 | 2652 | OMIM:613812 | Bile acid synthesis defect, congenital, 3 | . | | | 57 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CYP7B1 CL E G H | 9420 | 2652 | OMIM:613812 | Bile acid synthesis defect, congenital, 3 | . | | | 57 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CYP7B1 CL E G H | 9420 | 2652 | ORPHA:79302 | Congenital bile acid synthesis defect type 3 | HP:0040281 - Very frequent | | | 57 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | CYP7B1 CL E G H | 9420 | 2652 | ORPHA:79302 | Congenital bile acid synthesis defect type 3 | HP:0040281 - Very frequent | | | 57 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | CYTB CL E G H | 4519 | 7427 | ORPHA:137675 | Histiocytoid cardiomyopathy | HP:0040283 - Occasional | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | DAXX CL E G H | 1616 | 2681 | ORPHA:100075 | Neuroendocrine tumor of stomach | HP:0040283 - Occasional | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | DCDC2 CL E G H | 51473 | 18141 | OMIM:616217 | Nephronophthisis 19 | . | | | 8 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | DCDC2 CL E G H | 51473 | 18141 | OMIM:616217 | Nephronophthisis 19 | . | | | 8 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | DCDC2 CL E G H | 51473 | 18141 | OMIM:617394 | Sclerosing cholangitis, neonatal | . | | | 8 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | DCDC2 CL E G H | 51473 | 18141 | OMIM:617394 | Sclerosing cholangitis, neonatal | . | | | 8 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | DCDC2 CL E G H | 51473 | 18141 | ORPHA:84081 | Senior-Boichis syndrome | | | | 8 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | DCDC2 CL E G H | 51473 | 18141 | ORPHA:84081 | Senior-Boichis syndrome | | | | 8 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 94 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:603554 | Omenn syndrome | . | | | 94 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:603554 | Omenn syndrome | . | | | 94 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 94 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:602450 | Severe combined immunodeficiency with sensitivity to ionizing radiation | | | | 94 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:602450 | Severe combined immunodeficiency with sensitivity to ionizing radiation | | | | 94 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | DDRGK1 CL E G H | 65992 | 16110 | OMIM:602557 | Spondyloepimetaphyseal dysplasia, Shohat type | . | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | DDRGK1 CL E G H | 65992 | 16110 | ORPHA:93352 | Spondyloepimetaphyseal dysplasia, Shohat type | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | DDRGK1 CL E G H | 65992 | 16110 | OMIM:602557 | Spondyloepimetaphyseal dysplasia, Shohat type | . | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | DDRGK1 CL E G H | 65992 | 16110 | ORPHA:93352 | Spondyloepimetaphyseal dysplasia, Shohat type | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | DGUOK CL E G H | 1716 | 2858 | OMIM:251880 | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | . | | | 57 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | DGUOK CL E G H | 1716 | 2858 | OMIM:251880 | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | . | | | 57 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | DGUOK CL E G H | 1716 | 2858 | OMIM:617068 | Portal hypertension, noncirrhotic | . | | | 57 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | DGUOK CL E G H | 1716 | 2858 | OMIM:617068 | Portal hypertension, noncirrhotic | . | | | 57 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | DHCR24 CL E G H | 1718 | 2859 | ORPHA:35107 | Desmosterolosis | HP:0040283 - Occasional | | | 72 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | DHDDS CL E G H | 79947 | 20603 | OMIM:613861 | Retinitis pigmentosa 59 | . | | | 47 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | DHFR CL E G H | 1719 | 2861 | OMIM:613839 | Megaloblastic anemia due to dihydrofolate reductase deficiency | . | | | 7 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | DIS3L2 CL E G H | 129563 | 28648 | ORPHA:2849 | Perlman syndrome | HP:0040281 - Very frequent | | | 164 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | DKC1 CL E G H | 1736 | 2890 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 65 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | DKC1 CL E G H | 1736 | 2890 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 65 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | DLD CL E G H | 1738 | 2898 | OMIM:246900 | Dihydrolipoamide dehydrogenase deficiency | HP:0040283 - Occasional | | | 89 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | DLD CL E G H | 1738 | 2898 | ORPHA:2394 | Pyruvate dehydrogenase E3 deficiency | HP:0040282 - Frequent | | | 89 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | DLL4 CL E G H | 54567 | 2910 | OMIM:616589 | Adams-Oliver syndrome 6 | | | | 9 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | DNAJC21 CL E G H | 134218 | 27030 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040284 - Very rare | | | 5 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | DNAJC21 CL E G H | 134218 | 27030 | OMIM:260400 | Shwachman-Diamond syndrome 1 | . | | | 5 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | DNASE1L3 CL E G H | 1776 | 2959 | ORPHA:36412 | Hypocomplementemic urticarial vasculitis | HP:0040283 - Occasional | | | 3 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | DNASE1L3 CL E G H | 1776 | 2959 | ORPHA:36412 | Hypocomplementemic urticarial vasculitis | HP:0040283 - Occasional | | | 3 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | DNASE2 CL E G H | 1777 | 2960 | OMIM:619858 | | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | DNASE2 CL E G H | 1777 | 2960 | OMIM:619858 | | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | DOCK2 CL E G H | 1794 | 2988 | OMIM:616433 | Immunodeficiency 40 | | | | 6 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:86309 | DPAGT1-CDG | HP:0040283 - Occasional | | | 38 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | DPM1 CL E G H | 8813 | 3005 | OMIM:608799 | Congenital disorder of glycosylation, type IE | . | | | 27 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | DPM1 CL E G H | 8813 | 3005 | OMIM:608799 | Congenital disorder of glycosylation, type IE | . | | | 27 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | DPM1 CL E G H | 8813 | 3005 | ORPHA:79322 | DPM1-CDG | | | | 27 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | DPM1 CL E G H | 8813 | 3005 | ORPHA:79322 | DPM1-CDG | HP:0040283 - Occasional | | | 27 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | DPM2 CL E G H | 8818 | 3006 | ORPHA:329178 | Congenital muscular dystrophy with intellectual disability and severe epilepsy | HP:0040283 - Occasional | | | 26 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | DYNC2LI1 CL E G H | 51626 | 24595 | OMIM:617088 | Short-rib thoracic dysplasia 15 with polydactyly | . | | | 7 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | DYNC2LI1 CL E G H | 51626 | 24595 | OMIM:617088 | Short-rib thoracic dysplasia 15 with polydactyly | . | | | 7 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | DZIP1L CL E G H | 199221 | 26551 | ORPHA:731 | Autosomal recessive polycystic kidney disease | HP:0040282 - Frequent | | | 4 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | DZIP1L CL E G H | 199221 | 26551 | ORPHA:731 | Autosomal recessive polycystic kidney disease | | | | 4 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | DZIP1L CL E G H | 199221 | 26551 | OMIM:617610 | Polycystic kidney disease 5 | | | | 4 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | DZIP1L CL E G H | 199221 | 26551 | OMIM:617610 | Polycystic kidney disease 5 | | | | 4 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | EARS2 CL E G H | 124454 | 29419 | OMIM:614924 | Combined oxidative phosphorylation deficiency 12 | HP:0040283 - Occasional | | | 80 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | EFL1 CL E G H | 79631 | 25789 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040284 - Very rare | | | 1 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | EFL1 CL E G H | 79631 | 25789 | OMIM:617941 | Shwachman-Diamond syndrome 2 | . | | | 1 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | EIF2AK3 CL E G H | 9451 | 3255 | OMIM:226980 | Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus | . | | | 65 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | EPB41 CL E G H | 2035 | 3377 | OMIM:611804 | Elliptocytosis 1 | . | | | 6 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | EPB41 CL E G H | 2035 | 3377 | ORPHA:288 | Hereditary elliptocytosis | HP:0040283 - Occasional | | | 6 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | EPB42 CL E G H | 2038 | 3381 | ORPHA:822 | Hereditary spherocytosis | HP:0040282 - Frequent | | | 51 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | EPB42 CL E G H | 2038 | 3381 | ORPHA:822 | Hereditary spherocytosis | HP:0040282 - Frequent | | | 51 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | EPB42 CL E G H | 2038 | 3381 | OMIM:612690 | SPHEROCYTOSIS, TYPE 5; SPH5 | | | | 51 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | ERAP1 CL E G H | 51752 | 18173 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 1 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | ERBB3 CL E G H | 2065 | 3431 | OMIM:133180 | Erythroleukemia, familial, susceptibility to | . | | | 12 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ERBB3 CL E G H | 2065 | 3431 | OMIM:133180 | Erythroleukemia, familial, susceptibility to | . | | | 12 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ERCC1 CL E G H | 2067 | 3433 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040283 - Occasional | | | 20 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040283 - Occasional | | | 158 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040283 - Occasional | | | 199 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040283 - Occasional | | | 199 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040284 - Very rare | | | 199 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040283 - Occasional | | | 199 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | ERCC6 CL E G H | 2074 | 3438 | OMIM:133540 | Cockayne syndrome, type B | . | | | 199 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ERCC6 CL E G H | 2074 | 3438 | OMIM:133540 | Cockayne syndrome, type B | . | | | 199 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ERCC8 CL E G H | 1161 | 3439 | OMIM:216400 | Cockayne syndrome A | . | | | 55 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | ERCC8 CL E G H | 1161 | 3439 | OMIM:216400 | Cockayne syndrome A | . | | | 55 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040283 - Occasional | | | 55 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040283 - Occasional | | | 55 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040283 - Occasional | | | 55 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040284 - Very rare | | | 55 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ETFA CL E G H | 2108 | 3481 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | . | | | 37 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ETFB CL E G H | 2109 | 3482 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | . | | | 27 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ETFDH CL E G H | 2110 | 3483 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | . | | | 77 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | EWSR1 CL E G H | 2130 | 3508 | ORPHA:83469 | Desmoplastic small round cell tumor | HP:0040282 - Frequent | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | F5 CL E G H | 2153 | 3542 | ORPHA:131 | Budd-Chiari syndrome | HP:0040281 - Very frequent | | | 159 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | F5 CL E G H | 2153 | 3542 | ORPHA:131 | Budd-Chiari syndrome | HP:0040282 - Frequent | | | 159 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | FAH CL E G H | 2184 | 3579 | ORPHA:882 | Tyrosinemia type 1 | HP:0040283 - Occasional | | | 107 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | FAH CL E G H | 2184 | 3579 | ORPHA:882 | Tyrosinemia type 1 | HP:0040283 - Occasional | | | 107 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | FAH CL E G H | 2184 | 3579 | OMIM:276700 | Tyrosinemia, type I | . | | | 107 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | FAH CL E G H | 2184 | 3579 | OMIM:276700 | Tyrosinemia, type I | . | | | 107 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | FAM111B CL E G H | 374393 | 24200 | OMIM:615704 | Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis | . | | | 6 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | FARSA CL E G H | 2193 | 3592 | OMIM:619013 | RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2 | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | FARSA CL E G H | 2193 | 3592 | OMIM:619013 | RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2 | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040282 - Frequent | | | 59 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040281 - Very frequent | | | 59 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | FAS CL E G H | 355 | 11920 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | . | | | 59 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | FAS CL E G H | 355 | 11920 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | . | | | 59 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | FAS CL E G H | 355 | 11920 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 59 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | FASLG CL E G H | 356 | 11936 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | . | | | 37 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040281 - Very frequent | | | 37 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | FASLG CL E G H | 356 | 11936 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | . | | | 37 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | FAT4 CL E G H | 79633 | 23109 | ORPHA:2136 | Hennekam syndrome | HP:0040282 - Frequent | | | 114 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | FBN1 CL E G H | 2200 | 3603 | OMIM:614185 | GELEOPHYSIC DYSPLASIA 2; GPHYSD2 | | | | 1361 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | FBP1 CL E G H | 2203 | 3606 | ORPHA:348 | Fructose-1,6-bisphosphatase deficiency | HP:0040283 - Occasional | | | 64 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | FBP1 CL E G H | 2203 | 3606 | OMIM:229700 | Fructose-1,6-Bisphosphatase deficiency | . | | | 64 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | FCGR2A CL E G H | 2212 | 3616 | OMIM:219700 | Cystic fibrosis | | | | 6 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | FCGR2A CL E G H | 2212 | 3616 | OMIM:219700 | Cystic fibrosis | | | | 6 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | FCHO1 CL E G H | 23149 | 29002 | OMIM:619164 | IMMUNODEFICIENCY 76; IMD76 | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | FDX2 CL E G H | 112812 | 30546 | OMIM:251900 | Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy | . | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | FERMT3 CL E G H | 83706 | 23151 | OMIM:612840 | Leukocyte adhesion deficiency, type III | | | | 23 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | FERMT3 CL E G H | 83706 | 23151 | OMIM:612840 | Leukocyte adhesion deficiency, type III | . | | | 23 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | FGA CL E G H | 2243 | 3661 | OMIM:105200 | Amyloidosis, familial visceral | . | | | 47 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | FGA CL E G H | 2243 | 3661 | OMIM:105200 | Amyloidosis, familial visceral | . | | | 47 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | FGFR2 CL E G H | 2263 | 3689 | OMIM:614592 | Bent bone dysplasia syndrome | | | | 175 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | FGFR2 CL E G H | 2263 | 3689 | OMIM:614592 | Bent bone dysplasia syndrome | | | | 175 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:313855 | FGFR2-related bent bone dysplasia | | | | 175 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:313855 | FGFR2-related bent bone dysplasia | | | | 175 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | FLNC CL E G H | 2318 | 3756 | ORPHA:75249 | Familial isolated restrictive cardiomyopathy | HP:0040283 - Occasional | | | 197 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | FMO3 CL E G H | 2328 | 3771 | OMIM:602079 | Trimethylaminuria | . | | | 55 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | FOS CL E G H | 2353 | 3796 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040281 - Very frequent | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | FOXP3 CL E G H | 50943 | 6106 | ORPHA:37042 | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | HP:0040284 - Very rare | | | 32 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | FOXRED1 CL E G H | 55572 | 26927 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 61 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | FUCA1 CL E G H | 2517 | 4006 | OMIM:230000 | FUCOSIDOSIS | . | | | 43 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | FUCA1 CL E G H | 2517 | 4006 | OMIM:230000 | FUCOSIDOSIS | . | | | 43 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | FUCA1 CL E G H | 2517 | 4006 | ORPHA:349 | Fucosidosis | HP:0040281 - Very frequent | | | 43 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | G6PC1 CL E G H | 2538 | 4056 | OMIM:232200 | Glycogen storage disease ia | . | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | G6PC3 CL E G H | 92579 | 24861 | OMIM:612541 | Neutropenia, severe congenital, 4, autosomal recessive | . | | | 37 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | G6PC3 CL E G H | 92579 | 24861 | OMIM:612541 | Neutropenia, severe congenital, 4, autosomal recessive | . | | | 37 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | G6PD CL E G H | 2539 | 4057 | OMIM:300908 | Anemia, nonspherocytic hemolytic, due to g6pd deficiency | HP:0040284 - Very rare | | | 101 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | GAA CL E G H | 2548 | 4065 | ORPHA:308552 | Glycogen storage disease due to acid maltase deficiency, infantile onset | HP:0040281 - Very frequent | | | 407 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | GAA CL E G H | 2548 | 4065 | OMIM:232300 | Glycogen storage disease II | . | | | 407 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | GAA CL E G H | 2548 | 4065 | OMIM:232300 | Glycogen storage disease II | . | | | 407 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | GALE CL E G H | 2582 | 4116 | OMIM:230350 | Galactose epimerase deficiency | . | | | 52 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | GALE CL E G H | 2582 | 4116 | OMIM:230350 | Galactose epimerase deficiency | . | | | 52 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | GALK1 CL E G H | 2584 | 4118 | ORPHA:79237 | Galactokinase deficiency | | | | 23 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | GALK1 CL E G H | 2584 | 4118 | ORPHA:79237 | Galactokinase deficiency | HP:0040283 - Occasional | | | 23 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | GALM CL E G H | 130589 | 24063 | ORPHA:570422 | Galactose mutarotase deficiency | HP:0040284 - Very rare | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | GALNS CL E G H | 2588 | 4122 | OMIM:253000 | Morquio syndrome A | . | | | 123 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | GALT CL E G H | 2592 | 4135 | ORPHA:79239 | Classic galactosemia | HP:0040282 - Frequent | | | 351 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | GALT CL E G H | 2592 | 4135 | OMIM:230400 | GALACTOSEMIA | . | | | 351 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | GATA1 CL E G H | 2623 | 4170 | ORPHA:231393 | Beta-thalassemia-X-linked thrombocytopenia syndrome | HP:0040281 - Very frequent | | | 29 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | GATA1 CL E G H | 2623 | 4170 | ORPHA:79277 | Congenital erythropoietic porphyria | HP:0040283 - Occasional | | | 29 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | GATA1 CL E G H | 2623 | 4170 | OMIM:314050 | Thrombocytopenia with beta-thalassemia, X-linked | . | | | 29 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | GATA2 CL E G H | 2624 | 4171 | ORPHA:3226 | Deafness-lymphedema-leukemia syndrome | HP:0040282 - Frequent | | | 137 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | GATA2 CL E G H | 2624 | 4171 | ORPHA:3226 | Deafness-lymphedema-leukemia syndrome | HP:0040282 - Frequent | | | 137 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | GBA1 CL E G H | 2629 | 4177 | ORPHA:85212 | Fetal Gaucher disease | HP:0040282 - Frequent | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | GBA1 CL E G H | 2629 | 4177 | ORPHA:85212 | Fetal Gaucher disease | HP:0040282 - Frequent | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | GBA1 CL E G H | 2629 | 4177 | ORPHA:77259 | Gaucher disease type 1 | HP:0040281 - Very frequent | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | GBA1 CL E G H | 2629 | 4177 | ORPHA:77259 | Gaucher disease type 1 | HP:0040281 - Very frequent | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | GBA1 CL E G H | 2629 | 4177 | ORPHA:77260 | Gaucher disease type 2 | HP:0040281 - Very frequent | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | GBA1 CL E G H | 2629 | 4177 | ORPHA:77260 | Gaucher disease type 2 | HP:0040281 - Very frequent | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | GBA1 CL E G H | 2629 | 4177 | ORPHA:77261 | Gaucher disease type 3 | HP:0040281 - Very frequent | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | GBA1 CL E G H | 2629 | 4177 | ORPHA:77261 | Gaucher disease type 3 | HP:0040281 - Very frequent | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | GBA1 CL E G H | 2629 | 4177 | OMIM:608013 | Gaucher disease, perinatal lethal | | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | GBA1 CL E G H | 2629 | 4177 | OMIM:608013 | Gaucher disease, perinatal lethal | . | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | GBA1 CL E G H | 2629 | 4177 | OMIM:230800 | Gaucher disease, type I | . | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | GBA1 CL E G H | 2629 | 4177 | OMIM:230800 | Gaucher disease, type I | . | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | GBA1 CL E G H | 2629 | 4177 | OMIM:230900 | Gaucher disease, type II | . | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | GBA1 CL E G H | 2629 | 4177 | OMIM:230900 | Gaucher disease, type II | . | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | GBA1 CL E G H | 2629 | 4177 | OMIM:231000 | Gaucher disease, type III | . | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | GBA1 CL E G H | 2629 | 4177 | OMIM:231000 | Gaucher disease, type III | . | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | GBA1 CL E G H | 2629 | 4177 | OMIM:231005 | Gaucher disease, type IIIC | . | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | GBA1 CL E G H | 2629 | 4177 | OMIM:231005 | Gaucher disease, type IIIC | . | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | GBA1 CL E G H | 2629 | 4177 | ORPHA:2072 | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | HP:0040283 - Occasional | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | GBA1 CL E G H | 2629 | 4177 | ORPHA:2072 | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | GBE1 CL E G H | 2632 | 4180 | OMIM:232500 | Glycogen storage disease IV | | | | 86 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | GBE1 CL E G H | 2632 | 4180 | OMIM:232500 | Glycogen storage disease IV | | | | 86 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | GCDH CL E G H | 2639 | 4189 | OMIM:231670 | Glutaric acidemia I | . | | | 115 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | GCLC CL E G H | 2729 | 4311 | ORPHA:33574 | Glutamate-cysteine ligase deficiency | | | | 2 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | GCLC CL E G H | 2729 | 4311 | ORPHA:33574 | Glutamate-cysteine ligase deficiency | | | | 2 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | GEMIN4 CL E G H | 50628 | 15717 | OMIM:617913 | Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities | | | | 1 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | GFM1 CL E G H | 85476 | 13780 | OMIM:609060 | Combined oxidative phosphorylation deficiency 1 | . | | | 85 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | GIMAP5 CL E G H | 55340 | 18005 | OMIM:619463 | PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2 | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | GIMAP5 CL E G H | 55340 | 18005 | OMIM:619463 | PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2 | | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | GLB1 CL E G H | 2720 | 4298 | ORPHA:79255 | GM1 gangliosidosis type 1 | | | | 120 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | GLB1 CL E G H | 2720 | 4298 | ORPHA:79255 | GM1 gangliosidosis type 1 | | | | 120 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | GLB1 CL E G H | 2720 | 4298 | OMIM:230500 | GM1-gangliosidosis, type I | | | | 120 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | GLB1 CL E G H | 2720 | 4298 | OMIM:230500 | GM1-gangliosidosis, type I | | | | 120 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | GLB1 CL E G H | 2720 | 4298 | OMIM:230600 | Gm1-gangliosidosis, type II | . | | | 120 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | GLB1 CL E G H | 2720 | 4298 | OMIM:253010 | Mucopolysaccharidosis type IVB (Morquio) | . | | | 120 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | GLIS3 CL E G H | 169792 | 28510 | OMIM:610199 | Diabetes mellitus, neonatal, with congenital hypothyroidism | . | | | 143 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | GLIS3 CL E G H | 169792 | 28510 | OMIM:610199 | Diabetes mellitus, neonatal, with congenital hypothyroidism | HP:0040283 - Occasional | | | 143 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | GLRX5 CL E G H | 51218 | 20134 | OMIM:616860 | Anemia, sideroblastic, 3, pyridoxine-refractory | . | | | 17 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | GLRX5 CL E G H | 51218 | 20134 | OMIM:616860 | Anemia, sideroblastic, 3, pyridoxine-refractory | . | | | 17 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | GNE CL E G H | 10020 | 23657 | OMIM:269921 | SIALURIA | . | | | 173 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | GNE CL E G H | 10020 | 23657 | ORPHA:3166 | Sialuria | HP:0040281 - Very frequent | | | 173 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | GNE CL E G H | 10020 | 23657 | OMIM:269921 | SIALURIA | . | | | 173 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | GNE CL E G H | 10020 | 23657 | ORPHA:3166 | Sialuria | | | | 173 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | GNMT CL E G H | 27232 | 4415 | OMIM:606664 | GLYCINE N-METHYLTRANSFERASE DEFICIENCY | . | | | 3 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | . | | | 240 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | . | | | 240 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | GNPTAB CL E G H | 79158 | 29670 | ORPHA:576 | Mucolipidosis type II | HP:0040284 - Very rare | | | 240 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | GNPTAB CL E G H | 79158 | 29670 | ORPHA:576 | Mucolipidosis type II | | | | 240 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | . | | | 69 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | . | | | 69 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | GP1BA CL E G H | 2811 | 4439 | OMIM:153670 | Bernard-Soulier syndrome, type A2, autosomal dominant | . | | | 23 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040281 - Very frequent | | | 73 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040281 - Very frequent | | | 73 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040281 - Very frequent | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040281 - Very frequent | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | GPD1 CL E G H | 2819 | 4455 | OMIM:614480 | Hypertriglyceridemia, transient infantile | . | | | 3 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | GPD1 CL E G H | 2819 | 4455 | OMIM:614480 | Hypertriglyceridemia, transient infantile | HP:0040283 - Occasional | | | 3 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | GPI CL E G H | 2821 | 4458 | OMIM:613470 | Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency | . | | | 12 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | GPIHBP1 CL E G H | 338328 | 24945 | OMIM:615947 | Hyperlipoproteinemia, type ID | . | | | 12 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | GPIHBP1 CL E G H | 338328 | 24945 | OMIM:615947 | Hyperlipoproteinemia, type ID | . | | | 12 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | GPR35 CL E G H | 2859 | 4492 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040282 - Frequent | | | 2 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | GPR35 CL E G H | 2859 | 4492 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040282 - Frequent | | | 2 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | GUCY2D CL E G H | 3000 | 4689 | OMIM:204000 | Leber congenital amaurosis, type I | . | | | 124 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | GUSB CL E G H | 2990 | 4696 | ORPHA:584 | Mucopolysaccharidosis type 7 | HP:0040282 - Frequent | | | 54 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | GUSB CL E G H | 2990 | 4696 | OMIM:253220 | Mucopolysaccharidosis, type VII | . | | | 54 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | GUSB CL E G H | 2990 | 4696 | OMIM:253220 | Mucopolysaccharidosis, type VII | . | | | 54 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | GYPC CL E G H | 2995 | 4704 | ORPHA:288 | Hereditary elliptocytosis | HP:0040283 - Occasional | | | 5 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | H19-ICR CL E G H | 105259599 | | OMIM:130650 | Beckwith-Wiedemann syndrome | . | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | HADHA CL E G H | 3030 | 4801 | ORPHA:5 | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | HP:0040282 - Frequent | | | 99 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | HADHA CL E G H | 3030 | 4801 | OMIM:609016 | Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency | . | HP:0003593 - Infantile onset | | 99 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | HAMP CL E G H | 57817 | 15598 | OMIM:613313 | Hemochromatosis, type 2B | . | | | 15 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | HAMP CL E G H | 57817 | 15598 | OMIM:613313 | Hemochromatosis, type 2B | . | | | 15 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | HAVCR2 CL E G H | 84868 | 18437 | ORPHA:86884 | Subcutaneous panniculitis-like T-cell lymphoma | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | HAVCR2 CL E G H | 84868 | 18437 | ORPHA:86884 | Subcutaneous panniculitis-like T-cell lymphoma | | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | HAVCR2 CL E G H | 84868 | 18437 | OMIM:618398 | T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE | HP:0040284 - Very rare | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | HBA1 CL E G H | 3039 | 4823 | ORPHA:163596 | Hb Bart's hydrops fetalis | HP:0040282 - Frequent | | | 200 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | HBA1 CL E G H | 3039 | 4823 | ORPHA:163596 | Hb Bart's hydrops fetalis | HP:0040282 - Frequent | | | 200 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | HBA1 CL E G H | 3039 | 4823 | OMIM:613978 | Hemoglobin H disease | . | | | 200 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | HBA1 CL E G H | 3039 | 4823 | OMIM:613978 | Hemoglobin H disease | . | | | 200 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | HBA2 CL E G H | 3040 | 4824 | ORPHA:163596 | Hb Bart's hydrops fetalis | HP:0040282 - Frequent | | | 88 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | HBA2 CL E G H | 3040 | 4824 | ORPHA:163596 | Hb Bart's hydrops fetalis | HP:0040282 - Frequent | | | 88 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | HBA2 CL E G H | 3040 | 4824 | OMIM:613978 | Hemoglobin H disease | . | | | 88 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | HBA2 CL E G H | 3040 | 4824 | OMIM:613978 | Hemoglobin H disease | . | | | 88 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | HBB CL E G H | 3043 | 4827 | ORPHA:231222 | Beta-thalassemia intermedia | HP:0040283 - Occasional | | | 580 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | HBB CL E G H | 3043 | 4827 | ORPHA:231222 | Beta-thalassemia intermedia | HP:0040283 - Occasional | | | 580 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | HBB CL E G H | 3043 | 4827 | ORPHA:231214 | Beta-thalassemia major | HP:0040282 - Frequent | | | 580 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | HBB CL E G H | 3043 | 4827 | ORPHA:231214 | Beta-thalassemia major | HP:0040282 - Frequent | | | 580 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | HBB CL E G H | 3043 | 4827 | OMIM:603902 | BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE | | | | 580 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | HBB CL E G H | 3043 | 4827 | OMIM:603902 | BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE | | | | 580 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | HBB CL E G H | 3043 | 4827 | ORPHA:231226 | Dominant beta-thalassemia | | | | 580 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | HBB CL E G H | 3043 | 4827 | ORPHA:231226 | Dominant beta-thalassemia | HP:0040283 - Occasional | | | 580 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | HBB CL E G H | 3043 | 4827 | ORPHA:231242 | Hemoglobin C-beta-thalassemia syndrome | HP:0040281 - Very frequent | | | 580 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | HBB CL E G H | 3043 | 4827 | ORPHA:90039 | Hemoglobin D disease | | | | 580 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | HBB CL E G H | 3043 | 4827 | ORPHA:2133 | Hemoglobin E disease | HP:0040283 - Occasional | | | 580 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | HBB CL E G H | 3043 | 4827 | ORPHA:46532 | Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome | HP:0040282 - Frequent | | | 580 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | HBB CL E G H | 3043 | 4827 | ORPHA:46532 | Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome | HP:0040281 - Very frequent | | | 580 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | HBB CL E G H | 3043 | 4827 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 580 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | HBB CL E G H | 3043 | 4827 | OMIM:603903 | Sickle cell anemia | . | | | 580 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | HBB CL E G H | 3043 | 4827 | OMIM:603903 | Sickle cell anemia | . | | | 580 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | HBG1 CL E G H | 3047 | 4831 | ORPHA:46532 | Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome | HP:0040281 - Very frequent | | | 35 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | HBG1 CL E G H | 3047 | 4831 | ORPHA:46532 | Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome | HP:0040282 - Frequent | | | 35 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | HBG1 CL E G H | 3047 | 4831 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 35 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | HBG2 CL E G H | 3048 | 4832 | OMIM:613977 | Cyanosis, transient neonatal | HP:0040283 - Occasional | | | 50 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | HBG2 CL E G H | 3048 | 4832 | ORPHA:46532 | Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome | HP:0040281 - Very frequent | | | 50 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | HBG2 CL E G H | 3048 | 4832 | ORPHA:46532 | Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome | HP:0040282 - Frequent | | | 50 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | HBG2 CL E G H | 3048 | 4832 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 50 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | HEXB CL E G H | 3074 | 4879 | OMIM:268800 | Sandhoff disease | | | | 80 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | HEXB CL E G H | 3074 | 4879 | OMIM:268800 | Sandhoff disease | | | | 80 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | HEXB CL E G H | 3074 | 4879 | ORPHA:309155 | Sandhoff disease, infantile form | | | | 80 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | HEXB CL E G H | 3074 | 4879 | ORPHA:309155 | Sandhoff disease, infantile form | | | | 80 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | HFE CL E G H | 3077 | 4886 | OMIM:235200 | Hemochromatosis, type 1 | . | | | 38 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | HFE CL E G H | 3077 | 4886 | OMIM:235200 | Hemochromatosis, type 1 | . | | | 38 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | HFE CL E G H | 3077 | 4886 | ORPHA:465508 | Symptomatic form of hemochromatosis type 1 | HP:0040282 - Frequent | | | 38 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | HFE CL E G H | 3077 | 4886 | ORPHA:465508 | Symptomatic form of hemochromatosis type 1 | HP:0040283 - Occasional | | | 38 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | HGSNAT CL E G H | 138050 | 26527 | OMIM:252930 | Mucopolysaccharidosis type IIIC | . | | | 86 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | HGSNAT CL E G H | 138050 | 26527 | OMIM:252930 | Mucopolysaccharidosis type IIIC | . | | | 86 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | HJV CL E G H | 148738 | 4887 | OMIM:602390 | Hemochromatosis, type 2A | . | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | HJV CL E G H | 148738 | 4887 | OMIM:602390 | Hemochromatosis, type 2A | | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | HK1 CL E G H | 3098 | 4922 | OMIM:235700 | Hemolytic anemia, nonspherocytic, due to hexokinase deficiency | . | | | 11 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | HLA-B CL E G H | 3106 | 4932 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 4 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:545 | Follicular lymphoma | HP:0040282 - Frequent | | | 2 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | HP:0040283 - Occasional | | | 2 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | HLA-DRB1 CL E G H | 3123 | 4948 | OMIM:181000 | Sarcoidosis, susceptibility to, 1 | HP:0040283 - Occasional | | | 2 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | HLA-DRB1 CL E G H | 3123 | 4948 | OMIM:181000 | Sarcoidosis, susceptibility to, 1 | HP:0040283 - Occasional | | | 2 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 2 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 2 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | HMGCL CL E G H | 3155 | 5005 | ORPHA:20 | 3-hydroxy-3-methylglutaric aciduria | HP:0040282 - Frequent | | | 35 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | HMGCL CL E G H | 3155 | 5005 | OMIM:246450 | 3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency | . | | | 35 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | HMGCS2 CL E G H | 3158 | 5008 | OMIM:605911 | 3-Hydroxy-3-Methylglutaryl-Coa synthase-2 deficiency | . | | | 42 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | HMOX1 CL E G H | 3162 | 5013 | OMIM:614034 | HEME OXYGENASE 1 DEFICIENCY; HMOX1D | | | | 3 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | HNF1A CL E G H | 6927 | 11621 | ORPHA:324575 | Hyperinsulinism due to HNF1A deficiency | HP:0040284 - Very rare | | | 161 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | HNF4A CL E G H | 3172 | 5024 | OMIM:616026 | Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | HP:0040283 - Occasional | | | 138 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | HNF4A CL E G H | 3172 | 5024 | ORPHA:263455 | Hyperinsulinism due to HNF4A deficiency | HP:0040281 - Very frequent | | | 138 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | HPGD CL E G H | 3248 | 5154 | ORPHA:2796 | Pachydermoperiostosis | HP:0040283 - Occasional | | | 55 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | HPGD CL E G H | 3248 | 5154 | ORPHA:2796 | Pachydermoperiostosis | HP:0040283 - Occasional | | | 55 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | HSD17B4 CL E G H | 3295 | 5213 | OMIM:261515 | D-bifunctional protein deficiency | | | | 98 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | HSD17B4 CL E G H | 3295 | 5213 | OMIM:261515 | D-bifunctional protein deficiency | | | | 98 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | HSD3B7 CL E G H | 80270 | 18324 | OMIM:607765 | Bile acid synthesis defect, congenital, 1 | . | | | 26 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | HSD3B7 CL E G H | 80270 | 18324 | OMIM:607765 | Bile acid synthesis defect, congenital, 1 | . | | | 26 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | HSD3B7 CL E G H | 80270 | 18324 | ORPHA:79301 | Congenital bile acid synthesis defect type 1 | HP:0040282 - Frequent | | | 26 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | HSD3B7 CL E G H | 80270 | 18324 | ORPHA:79301 | Congenital bile acid synthesis defect type 1 | HP:0040281 - Very frequent | | | 26 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | HYMAI CL E G H | 57061 | 5326 | ORPHA:96191 | Paternal uniparental disomy of chromosome 6 | HP:0040281 - Very frequent | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | HYOU1 CL E G H | 10525 | 16931 | OMIM:233600 | Immunodeficiency 59 and hypoglycemia | . | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | IARS1 CL E G H | 3376 | 5330 | ORPHA:541423 | Growth delay-intellectual disability-hepatopathy syndrome | | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | IARS1 CL E G H | 3376 | 5330 | ORPHA:541423 | Growth delay-intellectual disability-hepatopathy syndrome | | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | ICOS CL E G H | 29851 | 5351 | ORPHA:1572 | Common variable immunodeficiency | HP:0040282 - Frequent | | | 32 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | ICOS CL E G H | 29851 | 5351 | OMIM:607594 | Immunodeficiency, common variable, 1 | . | | | 32 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ICOS CL E G H | 29851 | 5351 | OMIM:607594 | Immunodeficiency, common variable, 1 | . | | | 32 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ICOS CL E G H | 29851 | 5351 | OMIM:240500 | Immunodeficiency, common variable, 2 | . | | | 32 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | ICOS CL E G H | 29851 | 5351 | OMIM:240500 | Immunodeficiency, common variable, 2 | . | | | 32 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | IDS CL E G H | 3423 | 5389 | ORPHA:217093 | Mucopolysaccharidosis type 2, attenuated form | | | | 86 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | IDS CL E G H | 3423 | 5389 | ORPHA:217093 | Mucopolysaccharidosis type 2, attenuated form | HP:0040283 - Occasional | | | 86 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | IDS CL E G H | 3423 | 5389 | ORPHA:217085 | Mucopolysaccharidosis type 2, severe form | | | | 86 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | IDS CL E G H | 3423 | 5389 | ORPHA:217085 | Mucopolysaccharidosis type 2, severe form | HP:0040283 - Occasional | | | 86 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | IDS CL E G H | 3423 | 5389 | OMIM:309900 | Mucopolysaccharidosis, type II | . | | | 86 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | IDS CL E G H | 3423 | 5389 | OMIM:309900 | Mucopolysaccharidosis, type II | . | | | 86 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | IDUA CL E G H | 3425 | 5391 | OMIM:607014 | Hurler syndrome | . | | | 115 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | IDUA CL E G H | 3425 | 5391 | OMIM:607014 | Hurler syndrome | . | | | 115 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | IDUA CL E G H | 3425 | 5391 | ORPHA:93473 | Hurler syndrome | HP:0040281 - Very frequent | | | 115 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | IDUA CL E G H | 3425 | 5391 | ORPHA:93473 | Hurler syndrome | HP:0040281 - Very frequent | | | 115 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | IDUA CL E G H | 3425 | 5391 | OMIM:607015 | Hurler-Scheie syndrome | . | | | 115 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | IDUA CL E G H | 3425 | 5391 | OMIM:607015 | Hurler-Scheie syndrome | . | | | 115 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | IDUA CL E G H | 3425 | 5391 | ORPHA:93476 | Hurler-Scheie syndrome | HP:0040281 - Very frequent | | | 115 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | IDUA CL E G H | 3425 | 5391 | ORPHA:93476 | Hurler-Scheie syndrome | HP:0040281 - Very frequent | | | 115 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | IDUA CL E G H | 3425 | 5391 | ORPHA:93474 | Scheie syndrome | HP:0040282 - Frequent | | | 115 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | IDUA CL E G H | 3425 | 5391 | ORPHA:93474 | Scheie syndrome | HP:0040282 - Frequent | | | 115 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | IFIH1 CL E G H | 64135 | 18873 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 28 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | IFIH1 CL E G H | 64135 | 18873 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 28 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | IFIH1 CL E G H | 64135 | 18873 | OMIM:615846 | Aicardi-Goutieres syndrome 7 | HP:0040283 - Occasional | | | 28 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | IFIH1 CL E G H | 64135 | 18873 | OMIM:615846 | Aicardi-Goutieres syndrome 7 | HP:0040283 - Occasional | | | 28 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | IFNG CL E G H | 3458 | 5438 | OMIM:618963 | IMMUNODEFICIENCY 69; IMD69 | | | | 23 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | IFNG CL E G H | 3458 | 5438 | OMIM:618963 | IMMUNODEFICIENCY 69; IMD69 | | | | 23 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | IFNGR1 CL E G H | 3459 | 5439 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 60 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | IFNGR1 CL E G H | 3459 | 5439 | OMIM:209950 | Immunodeficiency 27A, mycobacteriosis, AR | | | | 60 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | IFNGR1 CL E G H | 3459 | 5439 | OMIM:209950 | Immunodeficiency 27A, mycobacteriosis, AR | | | | 60 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | IFT122 CL E G H | 55764 | 13556 | OMIM:218330 | Cranioectodermal dysplasia | . | | | 93 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | HP:0040282 - Frequent | | | 148 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | IFT172 CL E G H | 26160 | 30391 | OMIM:615630 | Short-Rib thoracic dysplasia 10 with or without polydactyly | . | | | 48 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | IFT172 CL E G H | 26160 | 30391 | OMIM:615630 | Short-Rib thoracic dysplasia 10 with or without polydactyly | . | | | 48 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | IGF2 CL E G H | 3481 | 5466 | OMIM:130650 | Beckwith-Wiedemann syndrome | . | | | 9 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | IGH CL E G H | 3492 | 5477 | ORPHA:545 | Follicular lymphoma | HP:0040282 - Frequent | | | 7 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | IGH CL E G H | 3492 | 5477 | ORPHA:52416 | Mantle cell lymphoma | HP:0040282 - Frequent | | | 7 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | IKBKG CL E G H | 8517 | 5961 | OMIM:301081 | | | | | 52 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | IKBKG CL E G H | 8517 | 5961 | OMIM:301081 | | | | | 52 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | IKZF3 CL E G H | 22806 | 13178 | OMIM:619437 | IMMUNODEFICIENCY 84; IMD84 | | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | IL10 CL E G H | 3586 | 5962 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 2 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | IL12A CL E G H | 3592 | 5969 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | IL12A-AS1 CL E G H | 101928376 | 49094 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | IL18BP CL E G H | 10068 | 5987 | OMIM:618549 | HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH | | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | IL1RN CL E G H | 3557 | 6000 | OMIM:612852 | Interleukin 1 receptor antagonist deficiency | . | | | 40 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | IL1RN CL E G H | 3557 | 6000 | OMIM:612852 | Interleukin 1 receptor antagonist deficiency | . | | | 40 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | IL23R CL E G H | 149233 | 19100 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 1 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | IL2RA CL E G H | 3559 | 6008 | OMIM:606367 | IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41 | | | | 65 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | IL2RA CL E G H | 3559 | 6008 | OMIM:606367 | IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41 | | | | 65 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | IL2RA CL E G H | 3559 | 6008 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | 65 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | IL2RA CL E G H | 3559 | 6008 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | 65 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | IL2RB CL E G H | 3560 | 6009 | OMIM:618495 | Immunodeficiency 63 with lymphoproliferation and autoimmunity | . | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | IL2RB CL E G H | 3560 | 6009 | OMIM:618495 | Immunodeficiency 63 with lymphoproliferation and autoimmunity | . | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | IL2RB CL E G H | 3560 | 6009 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | IL2RB CL E G H | 3560 | 6009 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | IL2RG CL E G H | 3561 | 6010 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 48 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | IL2RG CL E G H | 3561 | 6010 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 48 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | IL2RG CL E G H | 3561 | 6010 | OMIM:300400 | Severe combined immunodeficiency, X-linked | . | | | 48 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | IL2RG CL E G H | 3561 | 6010 | ORPHA:276 | T-B+ severe combined immunodeficiency due to gamma chain deficiency | HP:0040284 - Very rare | | | 48 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | IL6 CL E G H | 3569 | 6018 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 2 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | IL6 CL E G H | 3569 | 6018 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 2 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | IL6ST CL E G H | 3572 | 6021 | OMIM:619750 | IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94 | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | IL6ST CL E G H | 3572 | 6021 | OMIM:619750 | IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94 | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | IL7R CL E G H | 3575 | 6024 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 94 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | IL7R CL E G H | 3575 | 6024 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 94 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | IL7R CL E G H | 3575 | 6024 | OMIM:608971 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive | . | | | 94 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | IL7R CL E G H | 3575 | 6024 | OMIM:608971 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive | . | | | 94 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | IL7R CL E G H | 3575 | 6024 | ORPHA:169154 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | | | | 94 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | IL7R CL E G H | 3575 | 6024 | ORPHA:169154 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | | | | 94 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | INPP5E CL E G H | 56623 | 21474 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040281 - Very frequent | | | 111 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | INPP5E CL E G H | 56623 | 21474 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040283 - Occasional | | | 111 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | INPPL1 CL E G H | 3636 | 6080 | ORPHA:2746 | Opsismodysplasia | HP:0040283 - Occasional | | | 18 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | INPPL1 CL E G H | 3636 | 6080 | ORPHA:2746 | Opsismodysplasia | HP:0040283 - Occasional | | | 18 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | INSR CL E G H | 3643 | 6091 | ORPHA:508 | Leprechaunism | HP:0040282 - Frequent | | | 229 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | IRF2BP2 CL E G H | 359948 | 21729 | ORPHA:1572 | Common variable immunodeficiency | HP:0040282 - Frequent | | | 4 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | IRF4 CL E G H | 3662 | 6119 | ORPHA:3452 | Whipple disease | HP:0040282 - Frequent | | | 1 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | IRF4 CL E G H | 3662 | 6119 | ORPHA:3452 | Whipple disease | HP:0040282 - Frequent | | | 1 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | IRF8 CL E G H | 3394 | 5358 | OMIM:226990 | Immunodeficiency 32B | . | | | 5 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | IRF8 CL E G H | 3394 | 5358 | OMIM:226990 | Immunodeficiency 32B | | | | 5 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ITCH CL E G H | 83737 | 13890 | OMIM:613385 | AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD | | | | 3 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | ITCH CL E G H | 83737 | 13890 | OMIM:613385 | AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD | | | | 3 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | ITCH CL E G H | 83737 | 13890 | ORPHA:228426 | Syndromic multisystem autoimmune disease due to Itch deficiency | | | | 3 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ITCH CL E G H | 83737 | 13890 | ORPHA:228426 | Syndromic multisystem autoimmune disease due to Itch deficiency | | | | 3 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | ITK CL E G H | 3702 | 6171 | OMIM:613011 | LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1 | | | | 51 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ITK CL E G H | 3702 | 6171 | OMIM:613011 | LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1 | | | | 51 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | JAK1 CL E G H | 3716 | 6190 | OMIM:618999 | AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE | | | | 12 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | JAK1 CL E G H | 3716 | 6190 | OMIM:618999 | AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE | | | | 12 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | JAK2 CL E G H | 3717 | 6192 | ORPHA:131 | Budd-Chiari syndrome | HP:0040282 - Frequent | | | 57 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | JAK2 CL E G H | 3717 | 6192 | ORPHA:131 | Budd-Chiari syndrome | HP:0040281 - Very frequent | | | 57 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | JAK2 CL E G H | 3717 | 6192 | OMIM:133100 | Erythrocytosis, familial, 1 | . | | | 57 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | JAK2 CL E G H | 3717 | 6192 | ORPHA:3318 | Essential thrombocythemia | HP:0040282 - Frequent | | | 57 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | JAK2 CL E G H | 3717 | 6192 | ORPHA:71493 | Familial thrombocytosis | HP:0040282 - Frequent | | | 57 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | JAK2 CL E G H | 3717 | 6192 | OMIM:254450 | Myelofibrosismyelofibrosis with myeloid metaplasia, included | | | | 57 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | JAK2 CL E G H | 3717 | 6192 | ORPHA:729 | Polycythemia vera | HP:0040281 - Very frequent | | | 57 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | JAK2 CL E G H | 3717 | 6192 | ORPHA:729 | Polycythemia vera | HP:0040281 - Very frequent | | | 57 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | JAK2 CL E G H | 3717 | 6192 | OMIM:263300 | Polycythemia vera | . | | | 57 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | JAK2 CL E G H | 3717 | 6192 | ORPHA:824 | Primary myelofibrosis | HP:0040282 - Frequent | | | 57 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | JAK2 CL E G H | 3717 | 6192 | ORPHA:824 | Primary myelofibrosis | HP:0040282 - Frequent | | | 57 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | JAK3 CL E G H | 3718 | 6193 | ORPHA:35078 | T-B+ severe combined immunodeficiency due to JAK3 deficiency | | | | 140 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | JAK3 CL E G H | 3718 | 6193 | ORPHA:35078 | T-B+ severe combined immunodeficiency due to JAK3 deficiency | | | | 140 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | JAM2 CL E G H | 58494 | 14686 | ORPHA:1980 | Bilateral striopallidodentate calcinosis | HP:0040281 - Very frequent | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | JAM3 CL E G H | 83700 | 15532 | OMIM:613730 | Hemorrhagic destruction of the brain, subependymal calcification,and cataracts | . | | | 4 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:3473 | Zimmermann-Laband syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:3473 | Zimmermann-Laband syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | KCNH1 CL E G H | 3756 | 6250 | OMIM:135500 | Zimmermann-Laband syndrome 1 | . | | | 13 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | KCNH1 CL E G H | 3756 | 6250 | OMIM:135500 | Zimmermann-Laband syndrome 1 | . | | | 13 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:276580 | Autosomal dominant hyperinsulinism due to Kir6.2 deficiency | HP:0040283 - Occasional | | | 127 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | KCNN3 CL E G H | 3782 | 6292 | ORPHA:3473 | Zimmermann-Laband syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | KCNN3 CL E G H | 3782 | 6292 | ORPHA:3473 | Zimmermann-Laband syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | KCNN4 CL E G H | 3783 | 6293 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | HP:0040282 - Frequent | | | 3 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | KCNN4 CL E G H | 3783 | 6293 | OMIM:616689 | Dehydrated hereditary stomatocytosis 2 | . | | | 3 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | KCNN4 CL E G H | 3783 | 6293 | OMIM:616689 | Dehydrated hereditary stomatocytosis 2 | . | | | 3 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | KCNQ1 CL E G H | 3784 | 6294 | OMIM:130650 | Beckwith-Wiedemann syndrome | . | | | 730 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | KCNQ1OT1 CL E G H | 10984 | 6295 | OMIM:130650 | Beckwith-Wiedemann syndrome | . | | | 1 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | KIF12 CL E G H | 113220 | 21495 | OMIM:619662 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8 | | | | 1 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | KIF20A CL E G H | 10112 | 9787 | OMIM:619433 | CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6; RCM6 | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | KIF20A CL E G H | 10112 | 9787 | ORPHA:75249 | Familial isolated restrictive cardiomyopathy | HP:0040283 - Occasional | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | KIF3B CL E G H | 9371 | 6320 | OMIM:618955 | RETINITIS PIGMENTOSA 89; RP89 | | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | KIF3B CL E G H | 9371 | 6320 | OMIM:618955 | RETINITIS PIGMENTOSA 89; RP89 | | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | KIT CL E G H | 3815 | 6342 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040283 - Occasional | | | 327 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | KIT CL E G H | 3815 | 6342 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040283 - Occasional | | | 327 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | KLF1 CL E G H | 10661 | 6345 | OMIM:613673 | Anemia, dyserythropoietic congenital, type IV | . | | | 42 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | KLF1 CL E G H | 10661 | 6345 | OMIM:613673 | Anemia, dyserythropoietic congenital, type IV | . | | | 42 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | KLF1 CL E G H | 10661 | 6345 | ORPHA:46532 | Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome | HP:0040282 - Frequent | | | 42 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | KLF1 CL E G H | 10661 | 6345 | ORPHA:46532 | Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome | HP:0040281 - Very frequent | | | 42 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | KLF1 CL E G H | 10661 | 6345 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 42 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | KLRC4 CL E G H | 8302 | 6377 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | KPTN CL E G H | 11133 | 6404 | ORPHA:397612 | Macrocephaly-developmental delay syndrome | | | | 13 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | KPTN CL E G H | 11133 | 6404 | ORPHA:397612 | Macrocephaly-developmental delay syndrome | | | | 13 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | KPTN CL E G H | 11133 | 6404 | OMIM:615637 | Mental retardation, autosomal recessive 41 | | | | 13 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | KPTN CL E G H | 11133 | 6404 | OMIM:615637 | Mental retardation, autosomal recessive 41 | | | | 13 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | KRAS CL E G H | 3845 | 6407 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 196 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | KRAS CL E G H | 3845 | 6407 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 196 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | KRAS CL E G H | 3845 | 6407 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | 196 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | KRAS CL E G H | 3845 | 6407 | OMIM:614470 | RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic | . | | | 196 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | KRAS CL E G H | 3845 | 6407 | OMIM:614470 | RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic | . | | | 196 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | LACC1 CL E G H | 144811 | 26789 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 1 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | LACC1 CL E G H | 144811 | 26789 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 1 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | LAMA5 CL E G H | 3911 | 6485 | OMIM:620076 | | | | | 5 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | LARS1 CL E G H | 51520 | 6512 | OMIM:615438 | Infantile liver failure syndrome 1 | . | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | LAT CL E G H | 27040 | 18874 | OMIM:617514 | Immunodeficiency 52 | | | | 2 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | LBR CL E G H | 3930 | 6518 | OMIM:215140 | Greenberg dysplasia | | | | 70 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | LBR CL E G H | 3930 | 6518 | OMIM:215140 | Greenberg dysplasia | | | | 70 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | LBR CL E G H | 3930 | 6518 | OMIM:613471 | Reynolds syndrome | . | | | 70 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | LBR CL E G H | 3930 | 6518 | OMIM:613471 | Reynolds syndrome | . | | | 70 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | LBR CL E G H | 3930 | 6518 | ORPHA:779 | Reynolds syndrome | HP:0040281 - Very frequent | | | 70 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | LCAT CL E G H | 3931 | 6522 | ORPHA:79292 | Fish-eye disease | HP:0040283 - Occasional | | | 26 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | LCAT CL E G H | 3931 | 6522 | ORPHA:79292 | Fish-eye disease | HP:0040283 - Occasional | | | 26 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | LIG4 CL E G H | 3981 | 6601 | ORPHA:99812 | LIG4 syndrome | HP:0040283 - Occasional | | | 88 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | LIG4 CL E G H | 3981 | 6601 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 88 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | LIG4 CL E G H | 3981 | 6601 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 88 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | LIPA CL E G H | 3988 | 6617 | ORPHA:75234 | Cholesteryl ester storage disease | HP:0040281 - Very frequent | | | 73 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | LIPA CL E G H | 3988 | 6617 | ORPHA:75234 | Cholesteryl ester storage disease | HP:0040282 - Frequent | | | 73 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | LIPA CL E G H | 3988 | 6617 | OMIM:278000 | Lysosomal acid lipase deficiency | | | | 73 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | LIPA CL E G H | 3988 | 6617 | OMIM:278000 | Lysosomal acid lipase deficiency | | | | 73 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | LIPA CL E G H | 3988 | 6617 | ORPHA:75233 | Wolman disease | HP:0040281 - Very frequent | | | 73 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | LIPA CL E G H | 3988 | 6617 | ORPHA:75233 | Wolman disease | HP:0040282 - Frequent | | | 73 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | LIPE CL E G H | 3991 | 6621 | ORPHA:435660 | LIPE-related familial partial lipodystrophy | HP:0040281 - Very frequent | | | 7 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | LMBRD1 CL E G H | 55788 | 23038 | OMIM:277380 | Methylmalonic aciduria and homocystinuria, Cblf type | | | | 46 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:280365 | Autosomal semi-dominant severe lipodystrophic laminopathy | HP:0040283 - Occasional | | | 645 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:280365 | Autosomal semi-dominant severe lipodystrophic laminopathy | HP:0040281 - Very frequent | | | 645 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:2348 | Familial partial lipodystrophy, Dunnigan type | HP:0040281 - Very frequent | | | 645 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:2348 | Familial partial lipodystrophy, Dunnigan type | HP:0040283 - Occasional | | | 645 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:79084 | Familial partial lipodystrophy, Köbberling type | HP:0040282 - Frequent | | | 645 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | LMNA CL E G H | 4000 | 6636 | OMIM:151660 | Lipodystrophy, familial partial, type 2 | . | | | 645 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | LMNA CL E G H | 4000 | 6636 | OMIM:248370 | Mandibuloacral dysplasia | | | | 645 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | LPIN2 CL E G H | 9663 | 14450 | ORPHA:77297 | Majeed syndrome | HP:0040282 - Frequent | | | 186 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | LPIN2 CL E G H | 9663 | 14450 | ORPHA:77297 | Majeed syndrome | HP:0040282 - Frequent | | | 186 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | LPIN2 CL E G H | 9663 | 14450 | OMIM:609628 | MAJEED SYNDROME; MJDS | | | | 186 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | LPIN2 CL E G H | 9663 | 14450 | OMIM:609628 | MAJEED SYNDROME; MJDS | | | | 186 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | LPL CL E G H | 4023 | 6677 | OMIM:238600 | Type I hyperlipoproteinemia | . | | | 106 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | LPL CL E G H | 4023 | 6677 | OMIM:238600 | Type I hyperlipoproteinemia | | | | 106 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | LRBA CL E G H | 987 | 1742 | OMIM:614700 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 | | | | 45 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | LRP5 CL E G H | 4041 | 6697 | ORPHA:2924 | Isolated polycystic liver disease | HP:0040281 - Very frequent | | | 125 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | LSM11 CL E G H | 134353 | 30860 | ORPHA:51 | Aicardi-Goutières syndrome | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | LSM11 CL E G H | 134353 | 30860 | ORPHA:51 | Aicardi-Goutières syndrome | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | LTBP3 CL E G H | 4054 | 6716 | OMIM:617809 | Geleophysic dysplasia 3 | . | | | 12 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | LYRM4 CL E G H | 57128 | 21365 | OMIM:615595 | Combined oxidative phosphorylation deficiency 19 | | | | 4 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | HP:0040282 - Frequent | | | 239 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | | | | 239 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | LYST CL E G H | 1130 | 1968 | OMIM:214500 | Chediak-Higashi syndrome | | | | 239 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | LYST CL E G H | 1130 | 1968 | OMIM:214500 | Chediak-Higashi syndrome | | | | 239 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | LYZ CL E G H | 4069 | 6740 | OMIM:105200 | Amyloidosis, familial visceral | . | | | 32 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | LYZ CL E G H | 4069 | 6740 | OMIM:105200 | Amyloidosis, familial visceral | . | | | 32 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | LZTR1 CL E G H | 8216 | 6742 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | 43 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | MADD CL E G H | 8567 | 6766 | OMIM:619004 | DEEAH SYNDROME; DEEAH | | | | 5 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | MADD CL E G H | 8567 | 6766 | OMIM:619005 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH | | | | 5 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | MAGT1 CL E G H | 84061 | 28880 | OMIM:301031 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc; CDG1CC | | | | 17 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | MAGT1 CL E G H | 84061 | 28880 | OMIM:300853 | IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN | | | | 17 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | MAN2B1 CL E G H | 4125 | 6826 | OMIM:248500 | Alpha-mannosidosis | . | | | 136 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | MAN2B1 CL E G H | 4125 | 6826 | OMIM:248500 | Alpha-mannosidosis | . | | | 136 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309288 | Alpha-mannosidosis, adult form | | | | 136 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309288 | Alpha-mannosidosis, adult form | | | | 136 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309282 | Alpha-mannosidosis, infantile form | | | | 136 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309282 | Alpha-mannosidosis, infantile form | | | | 136 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | MAPK8IP3 CL E G H | 23162 | 6884 | OMIM:618443 | Neurodevelopmental disorder with or without variable brain abnormalities | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | MARS1 CL E G H | 4141 | 6898 | OMIM:615486 | Interstitial lung and liver disease | . | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | MCM4 CL E G H | 4173 | 6947 | OMIM:609981 | Immunodeficiency 54 | . | | | 69 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | MCM4 CL E G H | 4173 | 6947 | OMIM:609981 | Immunodeficiency 54 | . | | | 69 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | MED12 CL E G H | 9968 | 11957 | OMIM:301068 | HARDIKAR SYNDROME; HDKR | | | | 228 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | MED12 CL E G H | 9968 | 11957 | OMIM:301068 | HARDIKAR SYNDROME; HDKR | | | | 228 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | MEFV CL E G H | 4210 | 6998 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 281 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | MEFV CL E G H | 4210 | 6998 | ORPHA:342 | Familial Mediterranean fever | HP:0040283 - Occasional | | | 281 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | MEFV CL E G H | 4210 | 6998 | OMIM:249100 | Familial Mediterranean fever, AR | | | | 281 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | MEFV CL E G H | 4210 | 6998 | OMIM:249100 | Familial Mediterranean fever, AR | . | | | 281 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | MET CL E G H | 4233 | 7029 | ORPHA:33402 | Pediatric hepatocellular carcinoma | HP:0040281 - Very frequent | | | 375 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | MFN2 CL E G H | 9927 | 16877 | ORPHA:2398 | Multiple symmetric lipomatosis | HP:0040282 - Frequent | | | 203 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | MICU1 CL E G H | 10367 | 1530 | OMIM:615673 | Myopathy with extrapyramidal signs | | | | 14 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | MICU1 CL E G H | 10367 | 1530 | OMIM:615673 | Myopathy with extrapyramidal signs | | | | 14 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | MIF CL E G H | 4282 | 7097 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 1 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | MIF CL E G H | 4282 | 7097 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 1 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | MKS1 CL E G H | 54903 | 7121 | OMIM:249000 | Meckel syndrome 1 | . | | | 127 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | MMAA CL E G H | 166785 | 18871 | OMIM:251100 | Methylmalonic aciduria, Cbla type | . | | | 113 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | MMAB CL E G H | 326625 | 19331 | OMIM:251110 | Methylmalonic aciduria, Cblb type | . | | | 127 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | MMUT CL E G H | 4594 | 7526 | OMIM:251000 | Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency | . | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | MMUT CL E G H | 4594 | 7526 | ORPHA:79312 | Vitamin B12-unresponsive methylmalonic acidemia type mut- | HP:0040283 - Occasional | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | MMUT CL E G H | 4594 | 7526 | ORPHA:79312 | Vitamin B12-unresponsive methylmalonic acidemia type mut- | HP:0040282 - Frequent | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | MMUT CL E G H | 4594 | 7526 | ORPHA:289916 | Vitamin B12-unresponsive methylmalonic acidemia type mut0 | HP:0040282 - Frequent | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | MOGS CL E G H | 7841 | 24862 | OMIM:606056 | Congenital disorder of glycosylation, type IIB | . | | | 37 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | MOGS CL E G H | 7841 | 24862 | ORPHA:79330 | MOGS-CDG | | | | 37 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | MOGS CL E G H | 7841 | 24862 | ORPHA:79330 | MOGS-CDG | HP:0040283 - Occasional | | | 37 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | MPC1 CL E G H | 51660 | 21606 | OMIM:614741 | Mitochondrial pyruvate carrier deficiency | . | | | 6 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | MPI CL E G H | 4351 | 7216 | OMIM:602579 | Congenital disorder of glycosylation, type Ib | . | | | 51 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | MPI CL E G H | 4351 | 7216 | ORPHA:79319 | MPI-CDG | HP:0040281 - Very frequent | | | 51 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | MPIG6B CL E G H | 80739 | 13937 | OMIM:617441 | Thrombocytopenia, anemia, and myelofibrosis | HP:0040283 - Occasional | | | 1 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | MPL CL E G H | 4352 | 7217 | ORPHA:3318 | Essential thrombocythemia | HP:0040282 - Frequent | | | 97 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | MPL CL E G H | 4352 | 7217 | ORPHA:71493 | Familial thrombocytosis | HP:0040282 - Frequent | | | 97 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | MPL CL E G H | 4352 | 7217 | OMIM:254450 | Myelofibrosismyelofibrosis with myeloid metaplasia, included | | | | 97 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | MPL CL E G H | 4352 | 7217 | ORPHA:729 | Polycythemia vera | HP:0040281 - Very frequent | | | 97 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | MPL CL E G H | 4352 | 7217 | ORPHA:729 | Polycythemia vera | HP:0040281 - Very frequent | | | 97 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | MPL CL E G H | 4352 | 7217 | ORPHA:824 | Primary myelofibrosis | HP:0040282 - Frequent | | | 97 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | MPL CL E G H | 4352 | 7217 | ORPHA:824 | Primary myelofibrosis | HP:0040282 - Frequent | | | 97 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | MPV17 CL E G H | 4358 | 7224 | OMIM:256810 | Navajo neurohepatopathy | . | | | 56 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | MRAS CL E G H | 22808 | 7227 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | MRPL3 CL E G H | 11222 | 10379 | OMIM:614582 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9 | | | | 13 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | MRPS28 CL E G H | 28957 | 14513 | OMIM:618958 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47 | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | MRPS7 CL E G H | 51081 | 14499 | OMIM:617872 | Combined oxidative phosphorylation deficiency 34 | . | | | 12 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | MS4A1 CL E G H | 931 | 7315 | ORPHA:1572 | Common variable immunodeficiency | HP:0040282 - Frequent | | | 1 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | MST1 CL E G H | 4485 | 7380 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040282 - Frequent | | | 1 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | MST1 CL E G H | 4485 | 7380 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040282 - Frequent | | | 1 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | MTTP CL E G H | 4547 | 7467 | ORPHA:14 | Abetalipoproteinemia | HP:0040283 - Occasional | | | 81 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | MTX2 CL E G H | 10651 | 7506 | OMIM:619127 | MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | MVK CL E G H | 4598 | 7530 | OMIM:260920 | Hyper-Igd syndrome | | | | 150 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | MVK CL E G H | 4598 | 7530 | OMIM:260920 | Hyper-Igd syndrome | | | | 150 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | MVK CL E G H | 4598 | 7530 | ORPHA:343 | Hyperimmunoglobulinemia D with periodic fever | HP:0040281 - Very frequent | | | 150 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | MVK CL E G H | 4598 | 7530 | OMIM:610377 | Mevalonic aciduria | | | | 150 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | MVK CL E G H | 4598 | 7530 | ORPHA:29 | Mevalonic aciduria | HP:0040281 - Very frequent | | | 150 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | MVK CL E G H | 4598 | 7530 | OMIM:610377 | Mevalonic aciduria | | | | 150 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | MYBPC3 CL E G H | 4607 | 7551 | OMIM:115197 | Cardiomyopathy, familial hypertrophic, 4 | . | | | 1143 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | MYD88 CL E G H | 4615 | 7562 | ORPHA:33226 | Waldenström macroglobulinemia | HP:0040283 - Occasional | | | 9 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | MYD88 CL E G H | 4615 | 7562 | ORPHA:33226 | Waldenström macroglobulinemia | HP:0040283 - Occasional | | | 9 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | MYL2 CL E G H | 4633 | 7583 | OMIM:619424 | MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12 | | | | 131 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | MYO5B CL E G H | 4645 | 7603 | OMIM:619868 | | | | | 192 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | MYO5B CL E G H | 4645 | 7603 | OMIM:619868 | | | | | 192 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | MYORG CL E G H | 57462 | 19918 | ORPHA:1980 | Bilateral striopallidodentate calcinosis | HP:0040281 - Very frequent | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | MYPN CL E G H | 84665 | 23246 | ORPHA:75249 | Familial isolated restrictive cardiomyopathy | HP:0040283 - Occasional | | | 217 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NAGA CL E G H | 4668 | 7631 | ORPHA:79279 | Alpha-N-acetylgalactosaminidase deficiency type 1 | HP:0040283 - Occasional | | | 47 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NAGA CL E G H | 4668 | 7631 | ORPHA:79281 | Alpha-N-acetylgalactosaminidase deficiency type 3 | HP:0040282 - Frequent | | | 47 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NAGLU CL E G H | 4669 | 7632 | OMIM:252920 | Mucopolysaccharidosis type IIIB | . | | | 72 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | NAGLU CL E G H | 4669 | 7632 | OMIM:252920 | Mucopolysaccharidosis type IIIB | . | | | 72 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NAGS CL E G H | 162417 | 17996 | ORPHA:927 | Hyperammonemia due to N-acetylglutamate synthase deficiency | HP:0040284 - Very rare | | | 36 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | NBEAL2 CL E G H | 23218 | 31928 | ORPHA:721 | Gray platelet syndrome | HP:0040282 - Frequent | | | 127 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | NBEAL2 CL E G H | 23218 | 31928 | OMIM:139090 | Gray platelet syndrome | . | | | 127 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | NCF1 CL E G H | 653361 | 7660 | ORPHA:379 | Chronic granulomatous disease | HP:0040283 - Occasional | | | 13 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NCF1 CL E G H | 653361 | 7660 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | 13 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | NCF1 CL E G H | 653361 | 7660 | OMIM:233700 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I | . | | | 13 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NCF1 CL E G H | 653361 | 7660 | OMIM:233700 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I | . | | | 13 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NCF2 CL E G H | 4688 | 7661 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | 67 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | NCF2 CL E G H | 4688 | 7661 | ORPHA:379 | Chronic granulomatous disease | HP:0040283 - Occasional | | | 67 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NCF2 CL E G H | 4688 | 7661 | OMIM:233710 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II | . | | | 67 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | NCF2 CL E G H | 4688 | 7661 | OMIM:233710 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II | . | | | 67 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | NCF4 CL E G H | 4689 | 7662 | ORPHA:379 | Chronic granulomatous disease | HP:0040283 - Occasional | | | 37 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NCF4 CL E G H | 4689 | 7662 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | 37 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NCKAP1L CL E G H | 3071 | 4862 | OMIM:618982 | IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72 | | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | NCKAP1L CL E G H | 3071 | 4862 | OMIM:618982 | IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72 | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ND1 CL E G H | 4535 | 7455 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ND1 CL E G H | 4535 | 7455 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ND2 CL E G H | 4536 | 7456 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ND2 CL E G H | 4536 | 7456 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ND3 CL E G H | 4537 | 7458 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ND3 CL E G H | 4537 | 7458 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ND4 CL E G H | 4538 | 7459 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ND5 CL E G H | 4540 | 7461 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ND6 CL E G H | 4541 | 7462 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NDUFA1 CL E G H | 4694 | 7683 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 7 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NDUFA11 CL E G H | 126328 | 20371 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 32 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NDUFA6 CL E G H | 4700 | 7690 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 1 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NDUFAF1 CL E G H | 51103 | 18828 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 40 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NDUFAF1 CL E G H | 51103 | 18828 | OMIM:618234 | Mitochondrial complex I deficiency, nuclear type 11 | . | | | 40 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NDUFAF2 CL E G H | 91942 | 28086 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 26 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NDUFAF3 CL E G H | 25915 | 29918 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 31 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NDUFAF4 CL E G H | 29078 | 21034 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 50 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NDUFAF5 CL E G H | 79133 | 15899 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 34 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NDUFAF8 CL E G H | 284184 | 33551 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NDUFB10 CL E G H | 4716 | 7696 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NDUFB11 CL E G H | 54539 | 20372 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 3 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NDUFB3 CL E G H | 4709 | 7698 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 9 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NDUFB9 CL E G H | 4715 | 7704 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 16 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NDUFS1 CL E G H | 4719 | 7707 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 81 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 65 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NDUFS3 CL E G H | 4722 | 7710 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 22 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NDUFS4 CL E G H | 4724 | 7711 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 27 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | NDUFS4 CL E G H | 4724 | 7711 | OMIM:252010 | Mitochondrial complex I deficiency, nuclear type 1 | | | | 27 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NDUFS4 CL E G H | 4724 | 7711 | OMIM:252010 | Mitochondrial complex I deficiency, nuclear type 1 | | | | 27 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NDUFS6 CL E G H | 4726 | 7713 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 21 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NDUFS7 CL E G H | 374291 | 7714 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 38 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NDUFS7 CL E G H | 374291 | 7714 | OMIM:618224 | Mitochondrial complex I deficiency, nuclear type 3 | . | | | 38 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NDUFS8 CL E G H | 4728 | 7715 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 42 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NDUFV1 CL E G H | 4723 | 7716 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 74 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NDUFV2 CL E G H | 4729 | 7717 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 27 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NEK8 CL E G H | 284086 | 13387 | OMIM:615415 | Renal-Hepatic-Pancreatic dysplasia 2 | . | | | 43 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NEU1 CL E G H | 4758 | 7758 | ORPHA:93400 | Congenital sialidosis type 2 | HP:0040284 - Very rare | | | 43 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | NEU1 CL E G H | 4758 | 7758 | ORPHA:93400 | Congenital sialidosis type 2 | | | | 43 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NEU1 CL E G H | 4758 | 7758 | ORPHA:93399 | Juvenile sialidosis type 2 | HP:0040283 - Occasional | | | 43 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | NEU1 CL E G H | 4758 | 7758 | ORPHA:93399 | Juvenile sialidosis type 2 | | | | 43 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NEU1 CL E G H | 4758 | 7758 | OMIM:256550 | Neuraminidase deficiency | . | | | 43 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | NEU1 CL E G H | 4758 | 7758 | OMIM:256550 | Neuraminidase deficiency | . | | | 43 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | NEU1 CL E G H | 4758 | 7758 | ORPHA:812 | Sialidosis type 1 | HP:0040281 - Very frequent | | | 43 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | NFKB1 CL E G H | 4790 | 7794 | ORPHA:1572 | Common variable immunodeficiency | HP:0040282 - Frequent | | | 7 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:1572 | Common variable immunodeficiency | HP:0040282 - Frequent | | | 11 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NGLY1 CL E G H | 55768 | 17646 | ORPHA:404454 | Alacrimia-choreoathetosis-liver dysfunction syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | NGLY1 CL E G H | 55768 | 17646 | ORPHA:404454 | Alacrimia-choreoathetosis-liver dysfunction syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NGLY1 CL E G H | 55768 | 17646 | OMIM:615273 | Congenital disorder of deglycosylation | | | | 32 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NHLRC2 CL E G H | 374354 | 24731 | OMIM:618278 | Fibrosis, neurodegeneration, and cerebral angiomatosis | . | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | NHLRC2 CL E G H | 374354 | 24731 | OMIM:618278 | Fibrosis, neurodegeneration, and cerebral angiomatosis | | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | NHP2 CL E G H | 55651 | 14377 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 27 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NHP2 CL E G H | 55651 | 14377 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 27 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | NLRC4 CL E G H | 58484 | 16412 | OMIM:616050 | AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC | | | | 30 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | NLRP1 CL E G H | 22861 | 14374 | OMIM:617388 | AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK | | | | 37 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NLRP1 CL E G H | 22861 | 14374 | OMIM:617388 | AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK | | | | 37 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | NLRP12 CL E G H | 91662 | 22938 | OMIM:611762 | Familial cold autoinflammatory syndrome 2 | | | | 99 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:1451 | CINCA syndrome | HP:0040282 - Frequent | | | 217 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:1451 | CINCA syndrome | HP:0040282 - Frequent | | | 217 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NLRP3 CL E G H | 114548 | 16400 | OMIM:607115 | CINCA SYNDROME; CINCA | | | | 217 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | NLRP3 CL E G H | 114548 | 16400 | OMIM:607115 | CINCA SYNDROME; CINCA | | | | 217 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:575 | Muckle-Wells syndrome | HP:0040281 - Very frequent | | | 217 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:575 | Muckle-Wells syndrome | HP:0040281 - Very frequent | | | 217 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | NOD2 CL E G H | 64127 | 5331 | ORPHA:90340 | Blau syndrome | HP:0040283 - Occasional | | | 187 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NOP10 CL E G H | 55505 | 14378 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 17 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | NOP10 CL E G H | 55505 | 14378 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 17 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | NOTCH1 CL E G H | 4851 | 7881 | OMIM:616028 | Adams-Oliver syndrome 5 | HP:0040283 - Occasional | | | 452 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | NOTCH2 CL E G H | 4853 | 7882 | ORPHA:955 | Hajdu-Cheney syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NOTCH2 CL E G H | 4853 | 7882 | ORPHA:955 | Hajdu-Cheney syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NPC1 CL E G H | 4864 | 7897 | OMIM:257220 | Niemann-pick disease, type C1 | | | | 258 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | NPC1 CL E G H | 4864 | 7897 | OMIM:257220 | Niemann-pick disease, type C1 | | | | 258 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | NPC2 CL E G H | 10577 | 14537 | OMIM:607625 | Niemann-pick disease, type C2 | . | | | 33 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NPC2 CL E G H | 10577 | 14537 | OMIM:607625 | Niemann-pick disease, type C2 | . | | | 33 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | NPHP3 CL E G H | 27031 | 7907 | OMIM:267010 | MECKEL SYNDROME, TYPE 7; MKS7 | | | | 157 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NPHP3 CL E G H | 27031 | 7907 | OMIM:267010 | MECKEL SYNDROME, TYPE 7; MKS7 | | | | 157 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | NPHP3 CL E G H | 27031 | 7907 | OMIM:208540 | Renal-Hepatic-Pancreatic dysplasia | | | | 157 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NPHP3 CL E G H | 27031 | 7907 | OMIM:208540 | Renal-Hepatic-Pancreatic dysplasia | . | | | 157 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NPM1 CL E G H | 4869 | 7910 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 12 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | NPM1 CL E G H | 4869 | 7910 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 12 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NRAS CL E G H | 4893 | 7989 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | 102 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NRAS CL E G H | 4893 | 7989 | OMIM:614470 | RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic | . | | | 102 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | NRAS CL E G H | 4893 | 7989 | OMIM:614470 | RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic | . | | | 102 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NSD2 CL E G H | 7468 | 12766 | OMIM:619695 | RAUCH-STEINDL SYNDROME; RAUST | | | | 118 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | NUBPL CL E G H | 80224 | 20278 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 89 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | OAS1 CL E G H | 4938 | 8086 | OMIM:618042 | Pulmonary alveolar proteinosis with hypogammaglobulinemia | | | | 2 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | OCLN CL E G H | 100506658 | 8104 | OMIM:251290 | Band-Like calcification with simplified gyration and polymicrogyria | . | | | 23 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | OCLN CL E G H | 100506658 | 8104 | OMIM:251290 | Band-Like calcification with simplified gyration and polymicrogyria | . | | | 23 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | OSTM1 CL E G H | 28962 | 21652 | OMIM:259720 | Osteopetrosis, autosomal recessive 5 | . | | | 73 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | OSTM1 CL E G H | 28962 | 21652 | OMIM:259720 | Osteopetrosis, autosomal recessive 5 | . | | | 73 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | OTC CL E G H | 5009 | 8512 | ORPHA:664 | Ornithine transcarbamylase deficiency | HP:0040281 - Very frequent | | | 369 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PALB2 CL E G H | 79728 | 26144 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 1349 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | PALB2 CL E G H | 79728 | 26144 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 1349 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | PALLD CL E G H | 23022 | 17068 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 192 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PALLD CL E G H | 23022 | 17068 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 192 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PARN CL E G H | 5073 | 8609 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 26 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | PARN CL E G H | 5073 | 8609 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 26 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PC CL E G H | 5091 | 8636 | OMIM:266150 | Pyruvate carboxylase deficiency | . | | | 118 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PCCA CL E G H | 5095 | 8653 | ORPHA:35 | Propionic acidemia | HP:0040282 - Frequent | | | 96 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PCCA CL E G H | 5095 | 8653 | OMIM:606054 | Propionic acidemia | . | | | 96 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PCCB CL E G H | 5096 | 8654 | ORPHA:35 | Propionic acidemia | HP:0040282 - Frequent | | | 92 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PCCB CL E G H | 5096 | 8654 | OMIM:606054 | Propionic acidemia | . | | | 92 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PCK1 CL E G H | 5105 | 8724 | OMIM:261680 | Phosphoenolpyruvate carboxykinase deficiency, cytosolic | . | | | 53 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PDGFB CL E G H | 5155 | 8800 | ORPHA:1980 | Bilateral striopallidodentate calcinosis | HP:0040281 - Very frequent | | | 9 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PDGFRA CL E G H | 5156 | 8803 | OMIM:607685 | Hypereosinophilic syndrome, idiopathic | . | | | 337 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | PDGFRA CL E G H | 5156 | 8803 | OMIM:607685 | Hypereosinophilic syndrome, idiopathic | . | | | 337 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PDGFRB CL E G H | 5159 | 8804 | ORPHA:1980 | Bilateral striopallidodentate calcinosis | HP:0040281 - Very frequent | | | 28 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PEPD CL E G H | 5184 | 8840 | ORPHA:742 | Prolidase deficiency | HP:0040283 - Occasional | | | 66 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | PEPD CL E G H | 5184 | 8840 | OMIM:170100 | Prolidase deficiency | | | | 66 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PEPD CL E G H | 5184 | 8840 | OMIM:170100 | Prolidase deficiency | | | | 66 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | PEPD CL E G H | 5184 | 8840 | ORPHA:742 | Prolidase deficiency | HP:0040283 - Occasional | | | 66 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PEX1 CL E G H | 5189 | 8850 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 169 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PEX1 CL E G H | 5189 | 8850 | OMIM:214100 | Peroxisome biogenesis disorder 1A (Zellweger) | . | | | 169 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PEX1 CL E G H | 5189 | 8850 | OMIM:601539 | Peroxisome biogenesis disorder 1B | . | | | 169 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PEX1 CL E G H | 5189 | 8850 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 169 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PEX10 CL E G H | 5192 | 8851 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 75 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PEX10 CL E G H | 5192 | 8851 | OMIM:614870 | Peroxisome biogenesis disorder 6A (Zellweger) | . | | | 75 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PEX10 CL E G H | 5192 | 8851 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 75 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PEX11B CL E G H | 8799 | 8853 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 4 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PEX11B CL E G H | 8799 | 8853 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PEX12 CL E G H | 5193 | 8854 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 65 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PEX12 CL E G H | 5193 | 8854 | OMIM:614859 | Peroxisome biogenesis disorder 3A (Zellweger) | . | | | 65 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PEX12 CL E G H | 5193 | 8854 | OMIM:266510 | Peroxisome biogenesis disorder 3B | . | | | 65 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PEX12 CL E G H | 5193 | 8854 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PEX13 CL E G H | 5194 | 8855 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 66 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PEX13 CL E G H | 5194 | 8855 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 66 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PEX14 CL E G H | 5195 | 8856 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 46 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PEX14 CL E G H | 5195 | 8856 | OMIM:614887 | Peroxisome biogenesis disorder 13A (Zellweger) | . | | | 46 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PEX14 CL E G H | 5195 | 8856 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 46 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PEX16 CL E G H | 9409 | 8857 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 59 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PEX16 CL E G H | 9409 | 8857 | OMIM:614876 | Peroxisome biogenesis disorder 8A (Zellweger) | . | | | 59 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PEX16 CL E G H | 9409 | 8857 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 59 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PEX19 CL E G H | 5824 | 9713 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 62 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PEX19 CL E G H | 5824 | 9713 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 62 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PEX2 CL E G H | 5828 | 9717 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 82 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PEX2 CL E G H | 5828 | 9717 | OMIM:614866 | Peroxisome biogenesis disorder 5A (Zellweger) | . | | | 82 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | PEX2 CL E G H | 5828 | 9717 | OMIM:614866 | Peroxisome biogenesis disorder 5A (Zellweger) | . | | | 82 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PEX2 CL E G H | 5828 | 9717 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 82 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PEX26 CL E G H | 55670 | 22965 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 106 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PEX26 CL E G H | 55670 | 22965 | OMIM:614872 | Peroxisome biogenesis disorder 7A (zellweger) | . | | | 106 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PEX26 CL E G H | 55670 | 22965 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 106 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PEX3 CL E G H | 8504 | 8858 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 47 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PEX3 CL E G H | 8504 | 8858 | OMIM:614882 | Peroxisome biogenesis disorder 10A (Zellweger) | . | | | 47 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PEX3 CL E G H | 8504 | 8858 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 47 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PEX5 CL E G H | 5830 | 9719 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 99 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PEX5 CL E G H | 5830 | 9719 | OMIM:214110 | Peroxisome biogenesis disorder 2A (Zellweger) | . | | | 99 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PEX5 CL E G H | 5830 | 9719 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 99 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PEX6 CL E G H | 5190 | 8859 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 98 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PEX6 CL E G H | 5190 | 8859 | OMIM:614862 | Peroxisome biogenesis disorder 4A (Zellweger) | . | | | 98 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PEX6 CL E G H | 5190 | 8859 | OMIM:614863 | Peroxisome biogenesis disorder 4B | . | | | 98 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PEX6 CL E G H | 5190 | 8859 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 98 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | PEX7 CL E G H | 5191 | 8860 | ORPHA:773 | Refsum disease | HP:0040282 - Frequent | | | 72 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PGM1 CL E G H | 5236 | 8905 | OMIM:614921 | Congenital disorder of glycosylation, type It | | | | 58 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | PHKA2 CL E G H | 5256 | 8926 | ORPHA:264580 | Glycogen storage disease due to liver phosphorylase kinase deficiency | HP:0040284 - Very rare | | | 54 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PHKA2 CL E G H | 5256 | 8926 | ORPHA:264580 | Glycogen storage disease due to liver phosphorylase kinase deficiency | HP:0040281 - Very frequent | | | 54 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | PHKA2 CL E G H | 5256 | 8926 | OMIM:306000 | Glycogen storage disease ixa | | | | 54 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PHKA2 CL E G H | 5256 | 8926 | OMIM:306000 | Glycogen storage disease ixa | . | | | 54 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | PHKB CL E G H | 5257 | 8927 | ORPHA:79240 | Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency | | | | 101 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PHKB CL E G H | 5257 | 8927 | ORPHA:79240 | Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency | | | | 101 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PHKB CL E G H | 5257 | 8927 | OMIM:261750 | Glycogen storage disease ixb | . | | | 101 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | PHKB CL E G H | 5257 | 8927 | OMIM:261750 | Glycogen storage disease ixb | | | | 101 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PHKG2 CL E G H | 5261 | 8931 | ORPHA:264580 | Glycogen storage disease due to liver phosphorylase kinase deficiency | HP:0040281 - Very frequent | | | 48 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | PHKG2 CL E G H | 5261 | 8931 | ORPHA:264580 | Glycogen storage disease due to liver phosphorylase kinase deficiency | HP:0040284 - Very rare | | | 48 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PHKG2 CL E G H | 5261 | 8931 | OMIM:613027 | Glycogen storage disease IXc | | | | 48 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | PHKG2 CL E G H | 5261 | 8931 | OMIM:613027 | Glycogen storage disease IXc | . | | | 48 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | PHYH CL E G H | 5264 | 8940 | ORPHA:773 | Refsum disease | HP:0040282 - Frequent | | | 45 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | PIEZO1 CL E G H | 9780 | 28993 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | HP:0040282 - Frequent | | | 36 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | PIEZO1 CL E G H | 9780 | 28993 | OMIM:194380 | Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema | HP:0040283 - Occasional | | | 36 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PIEZO1 CL E G H | 9780 | 28993 | OMIM:194380 | Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema | HP:0040283 - Occasional | | | 36 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | PIEZO1 CL E G H | 9780 | 28993 | OMIM:616843 | Lymphedema, hereditary, III | | | | 36 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PIGA CL E G H | 5277 | 8957 | OMIM:300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | HP:0040283 - Occasional | | | 46 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PIGA CL E G H | 5277 | 8957 | OMIM:301072 | NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH | | | | 46 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | PIGA CL E G H | 5277 | 8957 | OMIM:301072 | NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH | | | | 46 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | PIGM CL E G H | 93183 | 18858 | OMIM:610293 | Glycosylphosphatidylinositol deficiency | . | | | 6 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PIGM CL E G H | 93183 | 18858 | OMIM:610293 | Glycosylphosphatidylinositol deficiency | . | | | 6 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PIGS CL E G H | 94005 | 14937 | OMIM:618143 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18 | | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | PIK3C2A CL E G H | 5286 | 8971 | OMIM:618440 | Oculoskeletodental syndrome | . | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PIK3C2A CL E G H | 5286 | 8971 | OMIM:618440 | Oculoskeletodental syndrome | . | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | PIK3CA CL E G H | 5290 | 8975 | OMIM:612918 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | . | | | 162 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | PIK3CD CL E G H | 5293 | 8977 | OMIM:615513 | IMMUNODEFICIENCY 14; IMD14 | | | | 9 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:616005 | Immunodeficiency 36 | . | | | 43 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PKD2 CL E G H | 5311 | 9009 | OMIM:613095 | Polycystic kidney disease 2 | | | | 106 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:731 | Autosomal recessive polycystic kidney disease | HP:0040282 - Frequent | | | 563 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:731 | Autosomal recessive polycystic kidney disease | | | | 563 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:53035 | Caroli disease | HP:0040283 - Occasional | | | 563 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:53035 | Caroli disease | HP:0040283 - Occasional | | | 563 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PKHD1 CL E G H | 5314 | 9016 | OMIM:263200 | Polycystic kidney disease 4 with or without polycystic liver disease | . | | | 563 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | PKHD1 CL E G H | 5314 | 9016 | OMIM:263200 | Polycystic kidney disease 4 with or without polycystic liver disease | . | | | 563 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | PKLR CL E G H | 5313 | 9020 | ORPHA:766 | Hemolytic anemia due to red cell pyruvate kinase deficiency | HP:0040281 - Very frequent | | | 51 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PKLR CL E G H | 5313 | 9020 | OMIM:266200 | Pyruvate kinase deficiency of red cells | | | | 51 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | PKLR CL E G H | 5313 | 9020 | OMIM:266200 | Pyruvate kinase deficiency of red cells | . | | | 51 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PLAGL1 CL E G H | 5325 | 9046 | ORPHA:96191 | Paternal uniparental disomy of chromosome 6 | HP:0040281 - Very frequent | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | PLEKHM1 CL E G H | 9842 | 29017 | ORPHA:210110 | Intermediate osteopetrosis | | | | 2 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PLEKHM1 CL E G H | 9842 | 29017 | ORPHA:210110 | Intermediate osteopetrosis | | | | 2 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PLEKHM1 CL E G H | 9842 | 29017 | OMIM:618107 | OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA3 | | | | 2 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | PLEKHM1 CL E G H | 9842 | 29017 | OMIM:618107 | OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA3 | | | | 2 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PMM2 CL E G H | 5373 | 9115 | OMIM:212065 | Congenital disorder of glycosylation, type Ia | . | | | 150 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | PNP CL E G H | 4860 | 7892 | OMIM:613179 | Immunodeficiency due to purine nucleoside phosphorylase deficiency | . | | | 52 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PNPLA2 CL E G H | 57104 | 30802 | OMIM:610717 | Neutral lipid storage disease with myopathy | . | | | 65 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PNPLA2 CL E G H | 57104 | 30802 | ORPHA:98908 | Neutral lipid storage myopathy | HP:0040283 - Occasional | | | 65 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | PNPLA2 CL E G H | 57104 | 30802 | ORPHA:565612 | Triglyceride deposit cardiomyovasculopathy | HP:0040284 - Very rare | | | 65 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PNPLA2 CL E G H | 57104 | 30802 | ORPHA:565612 | Triglyceride deposit cardiomyovasculopathy | HP:0040282 - Frequent | | | 65 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | POLD1 CL E G H | 5424 | 9175 | OMIM:615381 | Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | . | | | 731 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | POLG CL E G H | 5428 | 9179 | OMIM:203700 | Mitochondrial DNA depletion syndrome 4A (Alpers type) | . | | | 464 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | POLG2 CL E G H | 11232 | 9180 | OMIM:618528 | Mitochondrial DNA depletion syndrome 16 (hepatic type) | . | | | 45 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PPARG CL E G H | 5468 | 9236 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040281 - Very frequent | | | 42 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PPARG CL E G H | 5468 | 9236 | ORPHA:79083 | PPARG-related familial partial lipodystrophy | HP:0040281 - Very frequent | | | 42 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | PPARG CL E G H | 5468 | 9236 | ORPHA:79083 | PPARG-related familial partial lipodystrophy | HP:0040283 - Occasional | | | 42 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PPP1R21 CL E G H | 129285 | 30595 | OMIM:619383 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PRF1 CL E G H | 5551 | 9360 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040282 - Frequent | | | 58 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | PRF1 CL E G H | 5551 | 9360 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040282 - Frequent | | | 58 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | PRF1 CL E G H | 5551 | 9360 | OMIM:603553 | Hemophagocytic lymphohistiocytosis, familial, 2 | | | | 58 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PRF1 CL E G H | 5551 | 9360 | OMIM:603553 | Hemophagocytic lymphohistiocytosis, familial, 2 | | | | 58 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040281 - Very frequent | | | 10 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | PRKCD CL E G H | 5580 | 9399 | OMIM:615559 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 | | | | 10 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PRKCD CL E G H | 5580 | 9399 | OMIM:615559 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 | | | | 10 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | PRKCD CL E G H | 5580 | 9399 | ORPHA:1572 | Common variable immunodeficiency | HP:0040282 - Frequent | | | 10 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PRKCSH CL E G H | 5589 | 9411 | ORPHA:2924 | Isolated polycystic liver disease | HP:0040281 - Very frequent | | | 63 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | PSAP CL E G H | 5660 | 9498 | OMIM:611721 | Combined saposin deficiency | . | | | 81 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PSAP CL E G H | 5660 | 9498 | OMIM:611721 | Combined saposin deficiency | . | | | 81 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PSAP CL E G H | 5660 | 9498 | ORPHA:139406 | Encephalopathy due to prosaposin deficiency | HP:0040281 - Very frequent | | | 81 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | PSAP CL E G H | 5660 | 9498 | ORPHA:139406 | Encephalopathy due to prosaposin deficiency | HP:0040281 - Very frequent | | | 81 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PSAP CL E G H | 5660 | 9498 | OMIM:610539 | Gaucher disease, atypical | | | | 81 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | PSAP CL E G H | 5660 | 9498 | OMIM:610539 | Gaucher disease, atypical | | | | 81 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | PSMB10 CL E G H | 5699 | 9538 | OMIM:619175 | PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5; PRAAS5 | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PSMB10 CL E G H | 5699 | 9538 | OMIM:619175 | PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5; PRAAS5 | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PSMB4 CL E G H | 5692 | 9541 | OMIM:617591 | Proteasome-Associated autoinflammatory syndrome 3 | . | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | PSMB4 CL E G H | 5692 | 9541 | OMIM:617591 | Proteasome-Associated autoinflammatory syndrome 3 | . | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | PSMB8 CL E G H | 5696 | 9545 | OMIM:256040 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | | | | 20 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PSMB8 CL E G H | 5696 | 9545 | OMIM:256040 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | | | | 20 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | PSMB9 CL E G H | 5698 | 9546 | OMIM:617591 | Proteasome-Associated autoinflammatory syndrome 3 | . | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PSMB9 CL E G H | 5698 | 9546 | OMIM:617591 | Proteasome-Associated autoinflammatory syndrome 3 | . | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PSMG2 CL E G H | 56984 | 24929 | OMIM:619183 | PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4 | | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | PSMG2 CL E G H | 56984 | 24929 | OMIM:619183 | PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4 | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PSTPIP1 CL E G H | 9051 | 9580 | OMIM:604416 | Pyogenic sterile arthritis, pyoderma gangrenosum, and acne | | | | 96 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | PSTPIP1 CL E G H | 9051 | 9580 | OMIM:604416 | Pyogenic sterile arthritis, pyoderma gangrenosum, and acne | | | | 96 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PTEN CL E G H | 5728 | 9588 | OMIM:605309 | Macrocephaly/autism syndrome | HP:0040284 - Very rare | | | 948 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | PTEN CL E G H | 5728 | 9588 | OMIM:605309 | Macrocephaly/autism syndrome | HP:0040284 - Very rare | | | 948 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | PTEN CL E G H | 5728 | 9588 | ORPHA:2969 | Proteus-like syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PTPN11 CL E G H | 5781 | 9644 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | 291 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | PTPN2 CL E G H | 5771 | 9650 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PTPN2 CL E G H | 5771 | 9650 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | 3 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | 3 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | PTPRC CL E G H | 5788 | 9666 | OMIM:619924 | | | | | 25 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PTPRC CL E G H | 5788 | 9666 | OMIM:619924 | | | | | 25 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PTRH2 CL E G H | 51651 | 24265 | ORPHA:456312 | Infantile multisystem neurologic-endocrine-pancreatic disease | HP:0040283 - Occasional | | | 6 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PTRH2 CL E G H | 51651 | 24265 | OMIM:616263 | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset | . | | | 6 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PUS7 CL E G H | 54517 | 26033 | OMIM:618342 | Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PYGL CL E G H | 5836 | 9725 | ORPHA:369 | Glycogen storage disease due to liver glycogen phosphorylase deficiency | HP:0040281 - Very frequent | | | 71 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | PYGL CL E G H | 5836 | 9725 | OMIM:232700 | Glycogen storage disease VI | | | | 71 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | RAB27A CL E G H | 5873 | 9766 | ORPHA:79477 | Griscelli syndrome type 2 | HP:0040281 - Very frequent | | | 67 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | RAB27A CL E G H | 5873 | 9766 | ORPHA:79477 | Griscelli syndrome type 2 | HP:0040281 - Very frequent | | | 67 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | RAB27A CL E G H | 5873 | 9766 | OMIM:607624 | Griscelli syndrome, type 2 | | | | 67 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | RAB27A CL E G H | 5873 | 9766 | OMIM:607624 | Griscelli syndrome, type 2 | | | | 67 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | RABL3 CL E G H | 285282 | 18072 | ORPHA:1333 | Familial pancreatic carcinoma | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | RABL3 CL E G H | 285282 | 18072 | ORPHA:1333 | Familial pancreatic carcinoma | | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | RAC2 CL E G H | 5880 | 9802 | OMIM:618986 | IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B | | | | 9 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | RAC2 CL E G H | 5880 | 9802 | OMIM:618986 | IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B | | | | 9 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | RAF1 CL E G H | 5894 | 9829 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | 212 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | RAG1 CL E G H | 5896 | 9831 | ORPHA:231154 | Combined immunodeficiency due to partial RAG1 deficiency | HP:0040281 - Very frequent | | | 127 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | RAG1 CL E G H | 5896 | 9831 | OMIM:603554 | Omenn syndrome | . | | | 127 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | RAG1 CL E G H | 5896 | 9831 | OMIM:603554 | Omenn syndrome | . | | | 127 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | RAG1 CL E G H | 5896 | 9831 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 127 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | RAG1 CL E G H | 5896 | 9831 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 127 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | RAG1 CL E G H | 5896 | 9831 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | | | | 127 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | RAG1 CL E G H | 5896 | 9831 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | HP:0040283 - Occasional | | | 127 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | RAG2 CL E G H | 5897 | 9832 | OMIM:603554 | Omenn syndrome | . | | | 50 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | RAG2 CL E G H | 5897 | 9832 | OMIM:603554 | Omenn syndrome | . | | | 50 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | RAG2 CL E G H | 5897 | 9832 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 50 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | RAG2 CL E G H | 5897 | 9832 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 50 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | RAG2 CL E G H | 5897 | 9832 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | | | | 50 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | RAG2 CL E G H | 5897 | 9832 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | HP:0040283 - Occasional | | | 50 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | RASA2 CL E G H | 5922 | 9872 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040282 - Frequent | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040281 - Very frequent | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | RASGRP1 CL E G H | 10125 | 9878 | OMIM:618534 | IMMUNODEFICIENCY 64; IMD64 | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | RASGRP1 CL E G H | 10125 | 9878 | OMIM:618534 | IMMUNODEFICIENCY 64; IMD64 | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | RBCK1 CL E G H | 10616 | 15864 | OMIM:615895 | Polyglucosan body myopathy 1 with or without immunodeficiency | HP:0040283 - Occasional | | | 10 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | RBCK1 CL E G H | 10616 | 15864 | OMIM:615895 | Polyglucosan body myopathy 1 with or without immunodeficiency | | | | 10 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | RBM8A CL E G H | 9939 | 9905 | OMIM:274000 | Thrombocytopenia-absent radius syndrome | | | | 10 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | RBM8A CL E G H | 9939 | 9905 | OMIM:274000 | Thrombocytopenia-absent radius syndrome | | | | 10 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | REL CL E G H | 5966 | 9954 | OMIM:619652 | IMMUNODEFICIENCY 92; IMD92 | | | | 1 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | RFT1 CL E G H | 91869 | 30220 | OMIM:612015 | Congenital disorder of glycosylation, type IN | . | | | 92 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | RFT1 CL E G H | 91869 | 30220 | ORPHA:244310 | RFT1-CDG | HP:0040282 - Frequent | | | 92 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | RHAG CL E G H | 6005 | 10006 | OMIM:185000 | Overhydrated hereditary stomatocytosis | . | | | 13 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | RHAG CL E G H | 6005 | 10006 | OMIM:185000 | Overhydrated hereditary stomatocytosis | . | | | 13 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | RHAG CL E G H | 6005 | 10006 | ORPHA:3203 | Overhydrated hereditary stomatocytosis | HP:0040283 - Occasional | | | 13 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | RHAG CL E G H | 6005 | 10006 | ORPHA:71275 | Rh deficiency syndrome | | | | 13 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | RHAG CL E G H | 6005 | 10006 | ORPHA:71275 | Rh deficiency syndrome | | | | 13 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | RHBDF2 CL E G H | 79651 | 20788 | ORPHA:2198 | Palmoplantar keratoderma-esophageal carcinoma syndrome | HP:0040282 - Frequent | | | 80 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | RHCE CL E G H | 6006 | 10008 | ORPHA:71275 | Rh deficiency syndrome | | | | 8 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | RHCE CL E G H | 6006 | 10008 | ORPHA:71275 | Rh deficiency syndrome | | | | 8 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | RHD CL E G H | 6007 | 10009 | OMIM:619462 | Hemolytic disease of fetus and newborn, RH-induced | | | | 16 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | RHD CL E G H | 6007 | 10009 | OMIM:619462 | Hemolytic disease of fetus and newborn, RH-induced | | | | 16 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | RHD CL E G H | 6007 | 10009 | ORPHA:71275 | Rh deficiency syndrome | | | | 16 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | RHD CL E G H | 6007 | 10009 | ORPHA:71275 | Rh deficiency syndrome | | | | 16 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | RINT1 CL E G H | 60561 | 21876 | OMIM:618641 | INFANTILE LIVER FAILURE SYNDROME 3; ILFS3 | | | | 99 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | RINT1 CL E G H | 60561 | 21876 | OMIM:618641 | INFANTILE LIVER FAILURE SYNDROME 3; ILFS3 | | | | 99 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | RIPK1 CL E G H | 8737 | 10019 | OMIM:618852 | AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | RIPK1 CL E G H | 8737 | 10019 | OMIM:618852 | AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | RIT1 CL E G H | 6016 | 10023 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | 39 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | RMND1 CL E G H | 55005 | 21176 | OMIM:614922 | Combined oxidative phosphorylation deficiency 11 | HP:0040283 - Occasional | | | 26 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | RMRP CL E G H | 6023 | 10031 | ORPHA:175 | Cartilage-hair hypoplasia | HP:0040283 - Occasional | | | 37 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | RMRP CL E G H | 6023 | 10031 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 37 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | RMRP CL E G H | 6023 | 10031 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | RNASEH2A CL E G H | 10535 | 18518 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 33 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | RNASEH2A CL E G H | 10535 | 18518 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 33 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | RNASEH2A CL E G H | 10535 | 18518 | OMIM:610333 | Aicardi-Goutieres syndrome 4 | . | | | 33 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | RNASEH2A CL E G H | 10535 | 18518 | OMIM:610333 | Aicardi-Goutieres syndrome 4 | . | | | 33 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | RNASEH2B CL E G H | 79621 | 25671 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 34 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | RNASEH2B CL E G H | 79621 | 25671 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 34 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | RNASEH2C CL E G H | 84153 | 24116 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 60 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | RNASEH2C CL E G H | 84153 | 24116 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 60 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | RNASEH2C CL E G H | 84153 | 24116 | OMIM:610329 | Aicardi-Goutieres syndrome 3 | | | | 60 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | RNASEH2C CL E G H | 84153 | 24116 | OMIM:610329 | Aicardi-Goutieres syndrome 3 | | | | 60 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | | | | 15 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:616651 | Roifman syndrome | | | | 15 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | | | | 15 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:616651 | Roifman syndrome | | | | 15 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | RNU7-1 CL E G H | 100147744 | 34033 | ORPHA:51 | Aicardi-Goutières syndrome | | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | RNU7-1 CL E G H | 100147744 | 34033 | ORPHA:51 | Aicardi-Goutières syndrome | | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | RNU7-1 CL E G H | 100147744 | 34033 | OMIM:619487 | AICARDI-GOUTIERES SYNDROME 9; AGS9 | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | RNU7-1 CL E G H | 100147744 | 34033 | OMIM:619487 | AICARDI-GOUTIERES SYNDROME 9; AGS9 | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040281 - Very frequent | | | 167 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040283 - Occasional | | | 167 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | RRAS CL E G H | 6237 | 10447 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | RRAS2 CL E G H | 22800 | 17271 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 77 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 77 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | RUNX1 CL E G H | 861 | 10471 | ORPHA:98850 | Aggressive systemic mastocytosis | | | | 181 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | RUNX1 CL E G H | 861 | 10471 | ORPHA:98850 | Aggressive systemic mastocytosis | | | | 181 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | RUNX1 CL E G H | 861 | 10471 | ORPHA:521 | Chronic myeloid leukemia | HP:0040282 - Frequent | | | 181 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SAA1 CL E G H | 6288 | 10513 | ORPHA:85445 | AA amyloidosis | HP:0040282 - Frequent | | | 2 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SAMD9L CL E G H | 219285 | 1349 | ORPHA:2585 | Ataxia-pancytopenia syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SAMHD1 CL E G H | 25939 | 15925 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 55 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SAMHD1 CL E G H | 25939 | 15925 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 55 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SBDS CL E G H | 51119 | 19440 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040284 - Very rare | | | 26 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SBDS CL E G H | 51119 | 19440 | OMIM:260400 | Shwachman-Diamond syndrome 1 | . | | | 26 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SC5D CL E G H | 6309 | 10547 | OMIM:607330 | LATHOSTEROLOSIS | | | | 80 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SC5D CL E G H | 6309 | 10547 | ORPHA:46059 | Lathosterolosis | HP:0040282 - Frequent | | | 80 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SC5D CL E G H | 6309 | 10547 | OMIM:607330 | LATHOSTEROLOSIS | | | | 80 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SCARB2 CL E G H | 950 | 1665 | ORPHA:77259 | Gaucher disease type 1 | HP:0040281 - Very frequent | | | 77 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SCARB2 CL E G H | 950 | 1665 | ORPHA:77259 | Gaucher disease type 1 | HP:0040281 - Very frequent | | | 77 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SCO1 CL E G H | 6341 | 10603 | OMIM:619048 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4 | | | | 46 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SCO2 CL E G H | 9997 | 10604 | OMIM:604377 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | | | | 40 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SCYL1 CL E G H | 57410 | 14372 | ORPHA:466794 | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | | | | 5 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SCYL1 CL E G H | 57410 | 14372 | ORPHA:466794 | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | | | | 5 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SCYL1 CL E G H | 57410 | 14372 | OMIM:616719 | Spinocerebellar ataxia, autosomal recessive 21 | . | | | 5 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SCYL1 CL E G H | 57410 | 14372 | OMIM:616719 | Spinocerebellar ataxia, autosomal recessive 21 | . | | | 5 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SDHD CL E G H | 6392 | 10683 | OMIM:619167 | MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3 | | | | 129 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SEC23B CL E G H | 10483 | 10702 | OMIM:224100 | Anemia, dyserythropoietic congenital, type II | . | | | 60 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SEC63 CL E G H | 11231 | 21082 | ORPHA:2924 | Isolated polycystic liver disease | HP:0040281 - Very frequent | | | 137 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SEC63 CL E G H | 11231 | 21082 | OMIM:617004 | Polycystic liver disease 2 | . | | | 137 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SEMA4D CL E G H | 10507 | 10732 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040282 - Frequent | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SEMA4D CL E G H | 10507 | 10732 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040282 - Frequent | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SERPINA1 CL E G H | 5265 | 8941 | OMIM:613490 | Alpha-1-Antitrypsin deficiency | | | | 131 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SERPINA1 CL E G H | 5265 | 8941 | ORPHA:60 | Alpha-1-antitrypsin deficiency | HP:0040282 - Frequent | | | 131 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SF3B1 CL E G H | 23451 | 10768 | ORPHA:75564 | Acquired idiopathic sideroblastic anemia | HP:0040283 - Occasional | | | 19 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SF3B1 CL E G H | 23451 | 10768 | ORPHA:75564 | Acquired idiopathic sideroblastic anemia | HP:0040283 - Occasional | | | 19 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SGSH CL E G H | 6448 | 10818 | OMIM:252900 | Mucopolysaccharidosis type IIIA | . | | | 97 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SGSH CL E G H | 6448 | 10818 | OMIM:252900 | Mucopolysaccharidosis type IIIA | . | | | 97 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SH2B3 CL E G H | 10019 | 29605 | OMIM:133100 | Erythrocytosis, familial, 1 | . | | | 4 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SH2B3 CL E G H | 10019 | 29605 | ORPHA:3318 | Essential thrombocythemia | HP:0040282 - Frequent | | | 4 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SH2B3 CL E G H | 10019 | 29605 | OMIM:254450 | Myelofibrosismyelofibrosis with myeloid metaplasia, included | | | | 4 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SH2B3 CL E G H | 10019 | 29605 | OMIM:187950 | THROMBOCYTHEMIA 1; THCYT1 | | | | 4 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SH2D1A CL E G H | 4068 | 10820 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 37 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SH2D1A CL E G H | 4068 | 10820 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 37 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SKIC2 CL E G H | 6499 | 10898 | ORPHA:84064 | Syndromic diarrhea | HP:0040282 - Frequent | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SKIC2 CL E G H | 6499 | 10898 | ORPHA:84064 | Syndromic diarrhea | HP:0040284 - Very rare | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SKIC2 CL E G H | 6499 | 10898 | OMIM:614602 | Trichohepatoenteric syndrome 2 | . | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SKIC3 CL E G H | 9652 | 23639 | ORPHA:84064 | Syndromic diarrhea | HP:0040282 - Frequent | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SKIC3 CL E G H | 9652 | 23639 | ORPHA:84064 | Syndromic diarrhea | HP:0040284 - Very rare | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SKIC3 CL E G H | 9652 | 23639 | OMIM:222470 | Trichohepatoenteric syndrome 1 | . | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SKIC3 CL E G H | 9652 | 23639 | OMIM:222470 | Trichohepatoenteric syndrome 1 | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SLC17A5 CL E G H | 26503 | 10933 | OMIM:269920 | Infantile sialic acid storage disease | . | | | 78 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SLC17A5 CL E G H | 26503 | 10933 | OMIM:269920 | Infantile sialic acid storage disease | . | | | 78 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SLC20A2 CL E G H | 6575 | 10947 | ORPHA:1980 | Bilateral striopallidodentate calcinosis | HP:0040281 - Very frequent | | | 70 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SLC22A5 CL E G H | 6584 | 10969 | OMIM:212140 | Carnitine deficiency, systemic primary | . | | | 207 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SLC22A5 CL E G H | 6584 | 10969 | ORPHA:158 | Systemic primary carnitine deficiency | HP:0040281 - Very frequent | | | 207 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SLC25A1 CL E G H | 6576 | 10979 | OMIM:615182 | Combined d-2- and l-2-hydroxyglutaric aciduria | HP:0040283 - Occasional | | | 28 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SLC25A13 CL E G H | 10165 | 10983 | ORPHA:247585 | Citrullinemia type II | HP:0040282 - Frequent | | | 82 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SLC25A13 CL E G H | 10165 | 10983 | ORPHA:247598 | Neonatal intrahepatic cholestasis due to citrin deficiency | | | | 82 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SLC25A13 CL E G H | 10165 | 10983 | ORPHA:247598 | Neonatal intrahepatic cholestasis due to citrin deficiency | HP:0040282 - Frequent | | | 82 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SLC25A15 CL E G H | 10166 | 10985 | OMIM:238970 | Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome | . | | | 88 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SLC25A15 CL E G H | 10166 | 10985 | ORPHA:415 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | HP:0040282 - Frequent | | | 88 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SLC25A19 CL E G H | 60386 | 14409 | ORPHA:99742 | Amish lethal microcephaly | HP:0040283 - Occasional | | | 36 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SLC25A19 CL E G H | 60386 | 14409 | OMIM:607196 | Microcephaly, Amish type | . | | | 36 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SLC25A20 CL E G H | 788 | 1421 | ORPHA:159 | Carnitine-acylcarnitine translocase deficiency | HP:0040281 - Very frequent | | | 40 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SLC25A20 CL E G H | 788 | 1421 | OMIM:212138 | Carnitine-acylcarnitine translocase deficiency | | | | 40 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SLC29A3 CL E G H | 55315 | 23096 | ORPHA:168569 | H syndrome | | | | 68 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SLC29A3 CL E G H | 55315 | 23096 | ORPHA:168569 | H syndrome | | | | 68 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SLC29A3 CL E G H | 55315 | 23096 | OMIM:602782 | Histiocytosis-lymphadenopathy plus syndrome | | | | 68 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SLC29A3 CL E G H | 55315 | 23096 | OMIM:602782 | Histiocytosis-lymphadenopathy plus syndrome | | | | 68 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SLC2A1 CL E G H | 6513 | 11005 | OMIM:612126 | Glut1 deficiency syndrome 2 | | | | 255 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:168577 | Hereditary cryohydrocytosis with reduced stomatin | | | | 255 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:168577 | Hereditary cryohydrocytosis with reduced stomatin | | | | 255 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SLC2A1 CL E G H | 6513 | 11005 | OMIM:608885 | Stomatin-Deficient cryohydrocytosis with neurologic defects | . | | | 255 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SLC2A1 CL E G H | 6513 | 11005 | OMIM:608885 | Stomatin-Deficient cryohydrocytosis with neurologic defects | . | | | 255 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SLC2A2 CL E G H | 6514 | 11006 | ORPHA:2088 | Fanconi-Bickel syndrome | HP:0040282 - Frequent | | | 71 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SLC30A10 CL E G H | 55532 | 25355 | ORPHA:309854 | Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome | HP:0040282 - Frequent | | | 42 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SLC30A10 CL E G H | 55532 | 25355 | ORPHA:309854 | Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome | HP:0040282 - Frequent | | | 42 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SLC30A10 CL E G H | 55532 | 25355 | OMIM:613280 | Hypermanganesemia with dystonia 1 | | | | 42 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SLC34A2 CL E G H | 10568 | 11020 | ORPHA:60025 | Pulmonary alveolar microlithiasis | HP:0040283 - Occasional | | | 7 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SLC35C1 CL E G H | 55343 | 20197 | ORPHA:99843 | Leukocyte adhesion deficiency type II | HP:0040283 - Occasional | | | 71 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:619525 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W | | | | 110 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:619525 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W | | | | 110 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SLC37A4 CL E G H | 2542 | 4061 | ORPHA:79259 | Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib | HP:0040281 - Very frequent | | | 110 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:232220 | Glycogen storage disease ib | | | | 110 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:232220 | Glycogen storage disease ib | . | | | 110 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:232240 | GLYCOGEN STORAGE DISEASE Ic | . | | | 110 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SLC38A3 CL E G H | 10991 | 18044 | OMIM:619881 | | | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SLC39A4 CL E G H | 55630 | 17129 | OMIM:201100 | Acrodermatitis enteropathica, Zinc-Deficiency type | . | | | 55 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SLC39A4 CL E G H | 55630 | 17129 | OMIM:201100 | Acrodermatitis enteropathica, Zinc-Deficiency type | . | | | 55 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SLC40A1 CL E G H | 30061 | 10909 | OMIM:606069 | Hemochromatosis, type 4 | | | | 56 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SLC4A1 CL E G H | 6521 | 11027 | OMIM:185020 | CRYOHYDROCYTOSIS | . | | | 109 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SLC4A1 CL E G H | 6521 | 11027 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | HP:0040282 - Frequent | | | 109 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SLC4A1 CL E G H | 6521 | 11027 | ORPHA:822 | Hereditary spherocytosis | HP:0040282 - Frequent | | | 109 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SLC4A1 CL E G H | 6521 | 11027 | ORPHA:822 | Hereditary spherocytosis | HP:0040282 - Frequent | | | 109 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SLC4A1 CL E G H | 6521 | 11027 | OMIM:611590 | Renal tubular acidosis, distal, with hemolytic anemia | | | | 109 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SLC4A1 CL E G H | 6521 | 11027 | OMIM:611590 | Renal tubular acidosis, distal, with hemolytic anemia | | | | 109 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SLC4A1 CL E G H | 6521 | 11027 | OMIM:612653 | Spherocytosis, type 4 | . | | | 109 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SLC7A7 CL E G H | 9056 | 11065 | ORPHA:470 | Lysinuric protein intolerance | HP:0040282 - Frequent | | | 104 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SLC7A7 CL E G H | 9056 | 11065 | OMIM:222700 | Lysinuric protein intolerance | . | | | 104 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SLC7A7 CL E G H | 9056 | 11065 | OMIM:222700 | Lysinuric protein intolerance | . | | | 104 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SLC7A7 CL E G H | 9056 | 11065 | ORPHA:470 | Lysinuric protein intolerance | | | | 104 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SLCO2A1 CL E G H | 6578 | 10955 | ORPHA:2796 | Pachydermoperiostosis | HP:0040283 - Occasional | | | 13 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SLCO2A1 CL E G H | 6578 | 10955 | ORPHA:2796 | Pachydermoperiostosis | HP:0040283 - Occasional | | | 13 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 504 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 504 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SMPD1 CL E G H | 6609 | 11120 | ORPHA:77293 | Niemann-Pick disease type B | HP:0040282 - Frequent | | | 164 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SMPD1 CL E G H | 6609 | 11120 | ORPHA:77293 | Niemann-Pick disease type B | HP:0040282 - Frequent | | | 164 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SMPD1 CL E G H | 6609 | 11120 | OMIM:257200 | Niemann-Pick disease, type A | | | | 164 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SMPD1 CL E G H | 6609 | 11120 | OMIM:257200 | Niemann-Pick disease, type A | . | | | 164 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SMPD1 CL E G H | 6609 | 11120 | OMIM:607616 | Niemann-pick disease, type B | . | | | 164 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SMPD1 CL E G H | 6609 | 11120 | OMIM:607616 | Niemann-pick disease, type B | . | | | 164 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SNX10 CL E G H | 29887 | 14974 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | HP:0040281 - Very frequent | | | 2 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SNX10 CL E G H | 29887 | 14974 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | HP:0040281 - Very frequent | | | 2 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SNX10 CL E G H | 29887 | 14974 | OMIM:615085 | Osteopetrosis, autosomal recessive 8 | . | | | 2 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SNX10 CL E G H | 29887 | 14974 | OMIM:615085 | Osteopetrosis, autosomal recessive 8 | . | | | 2 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SNX14 CL E G H | 57231 | 14977 | ORPHA:397709 | Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome | | | | 14 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SNX14 CL E G H | 57231 | 14977 | ORPHA:397709 | Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome | | | | 14 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SNX14 CL E G H | 57231 | 14977 | OMIM:616354 | Spinocerebellar ataxia, autosomal recessive 20 | | | | 14 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SNX14 CL E G H | 57231 | 14977 | OMIM:616354 | Spinocerebellar ataxia, autosomal recessive 20 | | | | 14 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SOCS1 CL E G H | 8651 | 19383 | OMIM:619375 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD | | | | 6 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SOCS1 CL E G H | 8651 | 19383 | OMIM:619375 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD | | | | 6 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SOS1 CL E G H | 6654 | 11187 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | 315 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SOS2 CL E G H | 6655 | 11188 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | 30 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SOX10 CL E G H | 6663 | 11190 | OMIM:609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | | | | 61 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SOX10 CL E G H | 6663 | 11190 | OMIM:609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | | | | 61 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SOX10 CL E G H | 6663 | 11190 | ORPHA:163746 | Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease | HP:0040283 - Occasional | | | 61 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SOX10 CL E G H | 6663 | 11190 | ORPHA:163746 | Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease | HP:0040283 - Occasional | | | 61 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SP110 CL E G H | 3431 | 5401 | ORPHA:79124 | Hepatic veno-occlusive disease-immunodeficiency syndrome | HP:0040282 - Frequent | | | 49 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SP110 CL E G H | 3431 | 5401 | ORPHA:79124 | Hepatic veno-occlusive disease-immunodeficiency syndrome | | | | 49 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SPRED2 CL E G H | 200734 | 17722 | ORPHA:648 | Noonan syndrome | HP:0040282 - Frequent | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SPTA1 CL E G H | 6708 | 11272 | ORPHA:288 | Hereditary elliptocytosis | HP:0040283 - Occasional | | | 228 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SPTA1 CL E G H | 6708 | 11272 | ORPHA:822 | Hereditary spherocytosis | HP:0040282 - Frequent | | | 228 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SPTA1 CL E G H | 6708 | 11272 | ORPHA:822 | Hereditary spherocytosis | HP:0040282 - Frequent | | | 228 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SPTB CL E G H | 6710 | 11274 | ORPHA:288 | Hereditary elliptocytosis | HP:0040283 - Occasional | | | 156 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SPTB CL E G H | 6710 | 11274 | ORPHA:822 | Hereditary spherocytosis | HP:0040282 - Frequent | | | 156 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SPTB CL E G H | 6710 | 11274 | ORPHA:822 | Hereditary spherocytosis | HP:0040282 - Frequent | | | 156 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SPTB CL E G H | 6710 | 11274 | OMIM:616649 | SPHEROCYTOSIS, TYPE 2; SPH2 | | | | 156 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SRP54 CL E G H | 6729 | 11301 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040284 - Very rare | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SRP54 CL E G H | 6729 | 11301 | OMIM:260400 | Shwachman-Diamond syndrome 1 | . | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98850 | Aggressive systemic mastocytosis | | | | 1 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98850 | Aggressive systemic mastocytosis | | | | 1 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040283 - Occasional | | | 1 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040283 - Occasional | | | 1 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | STAT1 CL E G H | 6772 | 11362 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | | | | 89 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | STAT1 CL E G H | 6772 | 11362 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | | | | 89 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | STAT1 CL E G H | 6772 | 11362 | OMIM:614162 | Immunodeficiency 31C | | | | 89 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | STAT1 CL E G H | 6772 | 11362 | OMIM:614162 | Immunodeficiency 31C | | | | 89 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | STAT3 CL E G H | 6774 | 11364 | OMIM:615952 | AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1 | | | | 110 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | STAT3 CL E G H | 6774 | 11364 | OMIM:615952 | AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1 | | | | 110 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | STAT4 CL E G H | 6775 | 11365 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 2 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | STAT4 CL E G H | 6775 | 11365 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | 2 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | STAT4 CL E G H | 6775 | 11365 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | 2 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | STEAP3 CL E G H | 55240 | 24592 | OMIM:615234 | Anemia, hypochromic microcytic, with iron overload 2 | . | | | 1 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | STEAP3 CL E G H | 55240 | 24592 | OMIM:615234 | Anemia, hypochromic microcytic, with iron overload 2 | . | | | 1 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | STEAP3 CL E G H | 55240 | 24592 | ORPHA:300298 | Severe congenital hypochromic anemia with ringed sideroblasts | | | | 1 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | STEAP3 CL E G H | 55240 | 24592 | ORPHA:300298 | Severe congenital hypochromic anemia with ringed sideroblasts | | | | 1 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | STX11 CL E G H | 8676 | 11429 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040282 - Frequent | | | 85 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | STX11 CL E G H | 8676 | 11429 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040282 - Frequent | | | 85 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | STX11 CL E G H | 8676 | 11429 | OMIM:603552 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4 | | | | 85 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | STX11 CL E G H | 8676 | 11429 | OMIM:603552 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4 | | | | 85 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | STXBP2 CL E G H | 6813 | 11445 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040282 - Frequent | | | 70 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | STXBP2 CL E G H | 6813 | 11445 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040282 - Frequent | | | 70 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | STXBP2 CL E G H | 6813 | 11445 | OMIM:613101 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5 | | | | 70 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | STXBP2 CL E G H | 6813 | 11445 | OMIM:613101 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5 | | | | 70 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SUCLG1 CL E G H | 8802 | 11449 | ORPHA:17 | Fatal infantile lactic acidosis with methylmalonic aciduria | HP:0040282 - Frequent | | | 60 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SUMF1 CL E G H | 285362 | 20376 | ORPHA:585 | Multiple sulfatase deficiency | HP:0040281 - Very frequent | | | 80 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SUMF1 CL E G H | 285362 | 20376 | OMIM:272200 | Multiple sulfatase deficiency | . | | | 80 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SUMF1 CL E G H | 285362 | 20376 | OMIM:272200 | Multiple sulfatase deficiency | . | | | 80 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SUMF1 CL E G H | 285362 | 20376 | ORPHA:585 | Multiple sulfatase deficiency | HP:0040281 - Very frequent | | | 80 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | SURF1 CL E G H | 6834 | 11474 | OMIM:220110 | Mitochondrial complex IV deficiency | . | | | 73 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | SYK CL E G H | 6850 | 11491 | OMIM:619381 | IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82 | | | | 1 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TALDO1 CL E G H | 6888 | 11559 | OMIM:606003 | Transaldolase deficiency | . | | | 34 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | TALDO1 CL E G H | 6888 | 11559 | OMIM:606003 | Transaldolase deficiency | . | | | 34 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TALDO1 CL E G H | 6888 | 11559 | ORPHA:101028 | Transaldolase deficiency | | | | 34 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | TALDO1 CL E G H | 6888 | 11559 | ORPHA:101028 | Transaldolase deficiency | | | | 34 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | TBX1 CL E G H | 6899 | 11592 | OMIM:188400 | Digeorge syndrome | | | | 32 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | TBXAS1 CL E G H | 6916 | 11609 | ORPHA:1802 | Ghosal hematodiaphyseal dysplasia | HP:0040283 - Occasional | | | 16 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | TCF3 CL E G H | 6929 | 11633 | OMIM:619824 | AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B | | | | 2 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TCF4 CL E G H | 6925 | 11634 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040282 - Frequent | | | 241 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | TCF4 CL E G H | 6925 | 11634 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040282 - Frequent | | | 241 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | HP:0040281 - Very frequent | | | 82 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | HP:0040281 - Very frequent | | | 82 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:210110 | Intermediate osteopetrosis | | | | 82 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:210110 | Intermediate osteopetrosis | | | | 82 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | TCIRG1 CL E G H | 10312 | 11647 | OMIM:259700 | Osteopetrosis, autosomal recessive 1 | | | | 82 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TCIRG1 CL E G H | 10312 | 11647 | OMIM:259700 | Osteopetrosis, autosomal recessive 1 | | | | 82 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TERC CL E G H | 7012 | 11727 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 48 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | TERC CL E G H | 7012 | 11727 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 48 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | TERT CL E G H | 7015 | 11730 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 238 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TERT CL E G H | 7015 | 11730 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 238 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TET2 CL E G H | 54790 | 25941 | ORPHA:75564 | Acquired idiopathic sideroblastic anemia | HP:0040283 - Occasional | | | 3 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | TET2 CL E G H | 54790 | 25941 | ORPHA:75564 | Acquired idiopathic sideroblastic anemia | HP:0040283 - Occasional | | | 3 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TET2 CL E G H | 54790 | 25941 | ORPHA:98850 | Aggressive systemic mastocytosis | | | | 3 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | TET2 CL E G H | 54790 | 25941 | ORPHA:98850 | Aggressive systemic mastocytosis | | | | 3 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | TET2 CL E G H | 54790 | 25941 | ORPHA:3318 | Essential thrombocythemia | HP:0040282 - Frequent | | | 3 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TET2 CL E G H | 54790 | 25941 | OMIM:619126 | IMMUNODEFICIENCY 75; IMD75 | | | | 3 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | TET2 CL E G H | 54790 | 25941 | OMIM:619126 | IMMUNODEFICIENCY 75; IMD75 | | | | 3 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | TET2 CL E G H | 54790 | 25941 | ORPHA:729 | Polycythemia vera | HP:0040281 - Very frequent | | | 3 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TET2 CL E G H | 54790 | 25941 | ORPHA:729 | Polycythemia vera | HP:0040281 - Very frequent | | | 3 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TET2 CL E G H | 54790 | 25941 | ORPHA:824 | Primary myelofibrosis | HP:0040282 - Frequent | | | 3 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | TET2 CL E G H | 54790 | 25941 | ORPHA:824 | Primary myelofibrosis | HP:0040282 - Frequent | | | 3 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | TET2 CL E G H | 54790 | 25941 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040283 - Occasional | | | 3 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TET2 CL E G H | 54790 | 25941 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040283 - Occasional | | | 3 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TFE3 CL E G H | 7030 | 11752 | OMIM:301066 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF | | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | TFE3 CL E G H | 7030 | 11752 | OMIM:301066 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TGFB1 CL E G H | 7040 | 11766 | ORPHA:1328 | Camurati-Engelmann disease | HP:0040283 - Occasional | | | 13 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | TGFB1 CL E G H | 7040 | 11766 | ORPHA:1328 | Camurati-Engelmann disease | HP:0040283 - Occasional | | | 13 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | TGFB1 CL E G H | 7040 | 11766 | OMIM:219700 | Cystic fibrosis | | | | 13 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TGFB1 CL E G H | 7040 | 11766 | OMIM:219700 | Cystic fibrosis | | | | 13 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | THPO CL E G H | 7066 | 11795 | ORPHA:71493 | Familial thrombocytosis | HP:0040282 - Frequent | | | 23 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | THPO CL E G H | 7066 | 11795 | OMIM:187950 | THROMBOCYTHEMIA 1; THCYT1 | | | | 23 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TIMMDC1 CL E G H | 51300 | 1321 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 1 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | TINF2 CL E G H | 26277 | 11824 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 60 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TINF2 CL E G H | 26277 | 11824 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 60 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TKFC CL E G H | 26007 | 24552 | OMIM:618805 | TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TKT CL E G H | 7086 | 11834 | ORPHA:488618 | Transketolase deficiency | HP:0040283 - Occasional | | | 4 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | TLR4 CL E G H | 7099 | 11850 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 3 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TLR8 CL E G H | 51311 | 15632 | OMIM:301078 | IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98 | | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | TLR8 CL E G H | 51311 | 15632 | OMIM:301078 | IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98 | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TMEM126B CL E G H | 55863 | 30883 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 4 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TMEM165 CL E G H | 55858 | 30760 | OMIM:614727 | Congenital disorder of glycosylation, type IIK | . | | | 24 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TMEM67 CL E G H | 91147 | 28396 | OMIM:216360 | Coach syndrome 1 | | | | 166 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | TMEM67 CL E G H | 91147 | 28396 | OMIM:216360 | Coach syndrome 1 | . | | | 166 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040281 - Very frequent | | | 166 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040283 - Occasional | | | 166 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TMEM67 CL E G H | 91147 | 28396 | OMIM:607361 | Meckel syndrome 3 | | | | 166 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:84081 | Senior-Boichis syndrome | | | | 166 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:84081 | Senior-Boichis syndrome | | | | 166 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TMEM70 CL E G H | 54968 | 26050 | ORPHA:1194 | TMEM70-related mitochondrial encephalo-cardio-myopathy | HP:0040282 - Frequent | | | 63 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | TNFRSF11A CL E G H | 8792 | 11908 | OMIM:612301 | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7 | | | | 72 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TNFRSF11A CL E G H | 8792 | 11908 | OMIM:612301 | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7 | | | | 72 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | TNFRSF13B CL E G H | 23495 | 18153 | ORPHA:1572 | Common variable immunodeficiency | HP:0040282 - Frequent | | | 32 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TNFRSF13B CL E G H | 23495 | 18153 | OMIM:240500 | Immunodeficiency, common variable, 2 | . | | | 32 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | TNFRSF13B CL E G H | 23495 | 18153 | OMIM:240500 | Immunodeficiency, common variable, 2 | . | | | 32 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | TNFRSF13C CL E G H | 115650 | 17755 | ORPHA:1572 | Common variable immunodeficiency | HP:0040282 - Frequent | | | 12 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TNFRSF13C CL E G H | 115650 | 17755 | OMIM:240500 | Immunodeficiency, common variable, 2 | . | | | 12 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | TNFRSF13C CL E G H | 115650 | 17755 | OMIM:240500 | Immunodeficiency, common variable, 2 | . | | | 12 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TNFRSF1A CL E G H | 7132 | 11916 | OMIM:142680 | Periodic fever, familial, autosomal dominant | | | | 131 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | TNFRSF1A CL E G H | 7132 | 11916 | ORPHA:32960 | Tumor necrosis factor receptor 1 associated periodic syndrome | HP:0040282 - Frequent | | | 131 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | TNFRSF1B CL E G H | 7133 | 11917 | ORPHA:2584 | Classic mycosis fungoides | HP:0040283 - Occasional | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TNFRSF1B CL E G H | 7133 | 11917 | ORPHA:2584 | Classic mycosis fungoides | HP:0040283 - Occasional | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TNFRSF1B CL E G H | 7133 | 11917 | ORPHA:3162 | Sézary syndrome | HP:0040282 - Frequent | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | TNFRSF1B CL E G H | 7133 | 11917 | ORPHA:3162 | Sézary syndrome | HP:0040282 - Frequent | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | TNFRSF4 CL E G H | 7293 | 11918 | OMIM:615593 | Immunodeficiency 16 | | | | 2 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | TNFSF11 CL E G H | 8600 | 11926 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | HP:0040281 - Very frequent | | | 44 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TNFSF11 CL E G H | 8600 | 11926 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | HP:0040281 - Very frequent | | | 44 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | TNFSF11 CL E G H | 8600 | 11926 | OMIM:259710 | Osteopetrosis, autosomal recessive 2 | | | | 44 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TNFSF11 CL E G H | 8600 | 11926 | OMIM:259710 | Osteopetrosis, autosomal recessive 2 | | | | 44 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | TNFSF12 CL E G H | 8742 | 11927 | ORPHA:1572 | Common variable immunodeficiency | HP:0040282 - Frequent | | | 1 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TNNI3 CL E G H | 7137 | 11947 | ORPHA:75249 | Familial isolated restrictive cardiomyopathy | HP:0040283 - Occasional | | | 180 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TNNT2 CL E G H | 7139 | 11949 | ORPHA:75249 | Familial isolated restrictive cardiomyopathy | HP:0040283 - Occasional | | | 248 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TOGARAM1 CL E G H | 23116 | 19959 | OMIM:619185 | JOUBERT SYNDROME 37; JBTS37 | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TOM1 CL E G H | 10043 | 11982 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | TOM1 CL E G H | 10043 | 11982 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | TP53 CL E G H | 7157 | 11998 | ORPHA:3318 | Essential thrombocythemia | HP:0040282 - Frequent | | | 911 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TP53 CL E G H | 7157 | 11998 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 911 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | TP53 CL E G H | 7157 | 11998 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 911 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | TPI1 CL E G H | 7167 | 12009 | OMIM:615512 | Triosephosphate isomerase deficiency | . | | | 28 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | TPP2 CL E G H | 7174 | 12016 | ORPHA:444463 | Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome | HP:0040282 - Frequent | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | TPP2 CL E G H | 7174 | 12016 | OMIM:619220 | IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78 | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TRAPPC11 CL E G H | 60684 | 25751 | OMIM:615356 | Muscular dystrophy, limb-girdle, autosomal recessive 18 | HP:0040283 - Occasional | | | 27 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TRAPPC11 CL E G H | 60684 | 25751 | ORPHA:369840 | TRAPPC11-related limb-girdle muscular dystrophy R18 | HP:0040282 - Frequent | | | 27 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TREX1 CL E G H | 11277 | 12269 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 56 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | TREX1 CL E G H | 11277 | 12269 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 56 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TREX1 CL E G H | 11277 | 12269 | OMIM:225750 | Aicardi-Goutieres syndrome 1 | | | | 56 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | TREX1 CL E G H | 11277 | 12269 | OMIM:225750 | Aicardi-Goutieres syndrome 1 | HP:0040283 - Occasional | | | 56 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TRIM37 CL E G H | 4591 | 7523 | ORPHA:2576 | Mulibrey nanism | HP:0040282 - Frequent | | | 78 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TRIM37 CL E G H | 4591 | 7523 | OMIM:253250 | Mulibrey nanism | | | | 78 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TRMU CL E G H | 55687 | 25481 | OMIM:613070 | Liver failure, infantile, transient | . | | | 101 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TRMU CL E G H | 55687 | 25481 | ORPHA:254864 | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | HP:0040283 - Occasional | | | 101 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TRNE CL E G H | 4556 | 7479 | ORPHA:254864 | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | HP:0040283 - Occasional | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TRNK CL E G H | 4566 | 7489 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TRNN CL E G H | 4570 | 7493 | OMIM:220110 | Mitochondrial complex IV deficiency | . | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TRNS1 CL E G H | 4574 | 7497 | OMIM:220110 | Mitochondrial complex IV deficiency | . | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | TRNT1 CL E G H | 51095 | 17341 | OMIM:616084 | SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD | | | | 28 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TRNV CL E G H | 4577 | 7500 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TRNW CL E G H | 4578 | 7501 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TRPV6 CL E G H | 55503 | 14006 | ORPHA:417 | Neonatal severe primary hyperparathyroidism | HP:0040281 - Very frequent | | | 4 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | TRPV6 CL E G H | 55503 | 14006 | ORPHA:417 | Neonatal severe primary hyperparathyroidism | HP:0040281 - Very frequent | | | 4 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TSFM CL E G H | 10102 | 12367 | OMIM:610505 | Combined oxidative phosphorylation deficiency 3 | . | | | 43 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TUFM CL E G H | 7284 | 12420 | OMIM:610678 | Combined oxidative phosphorylation deficiency 4 | | | | 55 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | TULP3 CL E G H | 7289 | 12425 | OMIM:619902 | | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TULP3 CL E G H | 7289 | 12425 | OMIM:619902 | | | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | TYMS CL E G H | 7298 | 12441 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 1 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | TYMS CL E G H | 7298 | 12441 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 1 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | UBAC2 CL E G H | 337867 | 20486 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | UCP2 CL E G H | 7351 | 12518 | ORPHA:276556 | Hyperinsulinism due to UCP2 deficiency | HP:0040283 - Occasional | | | 15 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | UMPS CL E G H | 7372 | 12563 | ORPHA:30 | Hereditary orotic aciduria | HP:0040282 - Frequent | | | 135 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | UNC13D CL E G H | 201294 | 23147 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040282 - Frequent | | | 116 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | UNC13D CL E G H | 201294 | 23147 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040282 - Frequent | | | 116 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | UNC13D CL E G H | 201294 | 23147 | OMIM:608898 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3 | | | | 116 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | UNC13D CL E G H | 201294 | 23147 | OMIM:608898 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3 | | | | 116 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | UQCRB CL E G H | 7381 | 12582 | OMIM:615158 | Mitochondrial complex III deficiency, nuclear type 3 | . | | | 13 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | UROD CL E G H | 7389 | 12591 | ORPHA:95159 | Hepatoerythropoietic porphyria | HP:0040283 - Occasional | | | 31 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | UROS CL E G H | 7390 | 12592 | ORPHA:79277 | Congenital erythropoietic porphyria | HP:0040283 - Occasional | | | 41 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | UROS CL E G H | 7390 | 12592 | OMIM:263700 | Porphyria, congenital erythropoietic | . | | | 41 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | USB1 CL E G H | 79650 | 25792 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 8 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | USB1 CL E G H | 79650 | 25792 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 8 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | USB1 CL E G H | 79650 | 25792 | OMIM:604173 | Poikiloderma with neutropenia | | | | 8 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | USP18 CL E G H | 11274 | 12616 | OMIM:617397 | Pseudo-Torch syndrome 2 | . | | | 2 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | USP53 CL E G H | 54532 | 29255 | OMIM:619658 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS; PFIC7 | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | VIPAS39 CL E G H | 63894 | 20347 | OMIM:613404 | Arthrogryposis, renal dysfunction, and cholestasis 2 | | | | 27 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | HP:0040283 - Occasional | | | 130 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | HP:0040283 - Occasional | | | 130 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | VPS33A CL E G H | 65082 | 18179 | ORPHA:505248 | Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders | | | | 1 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | VPS33A CL E G H | 65082 | 18179 | ORPHA:505248 | Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders | | | | 1 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | VPS33A CL E G H | 65082 | 18179 | OMIM:617303 | Mucopolysaccharidosis-Plus syndrome | | | | 1 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | VPS33A CL E G H | 65082 | 18179 | OMIM:617303 | Mucopolysaccharidosis-Plus syndrome | | | | 1 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | VPS33B CL E G H | 26276 | 12712 | OMIM:620010 | | | | | 63 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | VPS33B CL E G H | 26276 | 12712 | OMIM:620010 | | | | | 63 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | VPS45 CL E G H | 11311 | 14579 | OMIM:615285 | Neutropenia, severe congenital, 5, autosomal recessive | . | | | 7 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | VPS45 CL E G H | 11311 | 14579 | OMIM:615285 | Neutropenia, severe congenital, 5, autosomal recessive | . | | | 7 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | VPS4A CL E G H | 27183 | 13488 | OMIM:619273 | CIMDAG SYNDROME; CIMDAG | | | | 1 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | WDR1 CL E G H | 9948 | 12754 | OMIM:150550 | Periodic fever, immunodeficiency, and thrombocytopenia syndrome | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | WDR19 CL E G H | 57728 | 18340 | OMIM:614376 | Short-Rib thoracic dysplasia 5 with or without polydactyly | | | | 95 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | WDR35 CL E G H | 57539 | 29250 | OMIM:613610 | Cranioectodermal dysplasia 2 | . | | | 136 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | WDR35 CL E G H | 57539 | 29250 | OMIM:613610 | Cranioectodermal dysplasia 2 | . | | | 136 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | WRAP53 CL E G H | 55135 | 25522 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 40 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | WRAP53 CL E G H | 55135 | 25522 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 40 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | WT1 CL E G H | 7490 | 12796 | ORPHA:83469 | Desmoplastic small round cell tumor | HP:0040282 - Frequent | | | 177 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | XIAP CL E G H | 331 | 592 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 81 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | XIAP CL E G H | 331 | 592 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 81 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | XIAP CL E G H | 331 | 592 | OMIM:300635 | Lymphoproliferative syndrome, X-linked, 2 | | | | 81 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | XIAP CL E G H | 331 | 592 | OMIM:300635 | Lymphoproliferative syndrome, X-linked, 2 | . | | | 81 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | XK CL E G H | 7504 | 12811 | OMIM:300842 | Mcleod syndrome | | | | 8 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | XK CL E G H | 7504 | 12811 | OMIM:300842 | Mcleod syndrome | | | | 8 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | XPR1 CL E G H | 9213 | 12827 | ORPHA:1980 | Bilateral striopallidodentate calcinosis | HP:0040281 - Very frequent | | | 4 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | XRCC4 CL E G H | 7518 | 12831 | ORPHA:99812 | LIG4 syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | XYLT1 CL E G H | 64131 | 15516 | ORPHA:370930 | XYLT1-CDG | HP:0040282 - Frequent | | | 14 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | YARS1 CL E G H | 8565 | 12840 | OMIM:619418 | NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2 | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | YARS1 CL E G H | 8565 | 12840 | OMIM:619418 | NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2 | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | YARS2 CL E G H | 51067 | 24249 | OMIM:613561 | Myopathy, lactic acidosis, and sideroblastic anemia 2 | HP:0040283 - Occasional | | | 45 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | | | | 46 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | | | | 46 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ZAP70 CL E G H | 7535 | 12858 | OMIM:269840 | SELECTIVE T-CELL DEFECT | . | | | 46 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | ZAP70 CL E G H | 7535 | 12858 | OMIM:269840 | SELECTIVE T-CELL DEFECT | . | | | 46 | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | ZFYVE19 CL E G H | 84936 | 20758 | OMIM:619849 | | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ZFYVE19 CL E G H | 84936 | 20758 | OMIM:619849 | | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ZIC3 CL E G H | 7547 | 12874 | OMIM:306955 | Heterotaxy, visceral, 1, X-linked | | | | 39 | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0003271 | HP:0001744 | Splenomegaly | 1 | ZNFX1 CL E G H | 57169 | 29271 | OMIM:619644 | IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91 | | | | | | |
HP:0003271 | HP:0002240 | Hepatomegaly | 1 | ZNFX1 CL E G H | 57169 | 29271 | OMIM:619644 | IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91 | | | | | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | ABCA1 CL E G H | 19 | 29 | ORPHA:31150 | Tangier disease | HP:0040282 - Frequent | | | 191 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | ADA2 CL E G H | 51816 | 1839 | OMIM:615688 | Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome | | | | 22 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 116 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | ALG9 CL E G H | 79796 | 15672 | OMIM:608776 | Congenital disorder of glycosylation, type Il | | | | 93 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | HP:0040283 - Occasional | | | 404 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | ANKRD55 CL E G H | 79722 | 25681 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040284 - Very rare | | | | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | ASAH1 CL E G H | 427 | 735 | ORPHA:333 | Farber disease | HP:0040283 - Occasional | | | 78 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040282 - Frequent | | | 145 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | BRCA1 CL E G H | 672 | 1100 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 5769 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | BRCA2 CL E G H | 675 | 1101 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 7642 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | CA2 CL E G H | 760 | 1373 | OMIM:259730 | Osteopetrosis, autosomal recessive 3 | . | | | 29 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | CALR CL E G H | 811 | 1455 | ORPHA:824 | Primary myelofibrosis | HP:0040282 - Frequent | | | 1 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | CAV1 CL E G H | 857 | 1527 | OMIM:612526 | Lipodystrophy, congenital generalized, type 3 | | | | 11 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | CBL CL E G H | 867 | 1541 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040282 - Frequent | | | 317 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | CCDC115 CL E G H | 84317 | 28178 | OMIM:616828 | Congenital disorder of glycosylation, type IIO | | | | 3 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | CD247 CL E G H | 919 | 1677 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040284 - Very rare | | | 8 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | CD247 CL E G H | 919 | 1677 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | HP:0040283 - Occasional | | | 8 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | CD27 CL E G H | 939 | 11922 | OMIM:615122 | Lymphoproliferative syndrome 2 | | | | 4 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | CD3D CL E G H | 915 | 1673 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | HP:0040283 - Occasional | | | 18 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | CD3E CL E G H | 916 | 1674 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | HP:0040283 - Occasional | | | 24 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | CD70 CL E G H | 970 | 11937 | OMIM:618261 | LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3 | | | | | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 289 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | CFTR CL E G H | 1080 | 1884 | OMIM:219700 | Cystic fibrosis | | | | 1371 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | CLCN7 CL E G H | 1186 | 2025 | ORPHA:210110 | Intermediate osteopetrosis | HP:0040284 - Very rare | | | 102 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | COG1 CL E G H | 9382 | 6545 | ORPHA:263508 | COG1-CDG | HP:0040283 - Occasional | | | 52 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | COG4 CL E G H | 25839 | 18620 | ORPHA:263501 | COG4-CDG | HP:0040282 - Frequent | | | 67 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | COG5 CL E G H | 10466 | 14857 | ORPHA:263487 | COG5-CDG | HP:0040283 - Occasional | | | 79 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | COG7 CL E G H | 91949 | 18622 | ORPHA:79333 | COG7-CDG | | | | 64 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | CSF3R CL E G H | 1441 | 2439 | OMIM:162830 | Neutrophilia, hereditary | . | | | 34 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | CTSA CL E G H | 5476 | 9251 | OMIM:256540 | Galactosialidosis | HP:0040283 - Occasional | | | 51 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | CTSK CL E G H | 1513 | 2536 | ORPHA:763 | Pycnodysostosis | | | | 39 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | CYBC1 CL E G H | 79415 | 28672 | OMIM:618935 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5 | | | | | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | CYP7B1 CL E G H | 9420 | 2652 | ORPHA:79302 | Congenital bile acid synthesis defect type 3 | | | | 57 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | DCDC2 CL E G H | 51473 | 18141 | ORPHA:84081 | Senior-Boichis syndrome | | | | 8 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | DDRGK1 CL E G H | 65992 | 16110 | ORPHA:93352 | Spondyloepimetaphyseal dysplasia, Shohat type | HP:0040283 - Occasional | | | | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | DNASE2 CL E G H | 1777 | 2960 | OMIM:619858 | | | | | | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | DPM1 CL E G H | 8813 | 3005 | ORPHA:79322 | DPM1-CDG | HP:0040283 - Occasional | | | 27 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | DZIP1L CL E G H | 199221 | 26551 | ORPHA:731 | Autosomal recessive polycystic kidney disease | HP:0040283 - Occasional | | | 4 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | DZIP1L CL E G H | 199221 | 26551 | OMIM:617610 | Polycystic kidney disease 5 | | | | 4 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | FARSA CL E G H | 2193 | 3592 | OMIM:619013 | RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2 | | | | | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | FCGR2A CL E G H | 2212 | 3616 | OMIM:219700 | Cystic fibrosis | | | | 6 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | FERMT3 CL E G H | 83706 | 23151 | OMIM:612840 | Leukocyte adhesion deficiency, type III | | | | 23 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | FGFR2 CL E G H | 2263 | 3689 | OMIM:614592 | Bent bone dysplasia syndrome | HP:0040283 - Occasional | | | 175 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:313855 | FGFR2-related bent bone dysplasia | HP:0040283 - Occasional | | | 175 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | G6PC3 CL E G H | 92579 | 24861 | OMIM:612541 | Neutropenia, severe congenital, 4, autosomal recessive | | | | 37 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | GALK1 CL E G H | 2584 | 4118 | ORPHA:79237 | Galactokinase deficiency | HP:0040283 - Occasional | | | 23 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | GBA1 CL E G H | 2629 | 4177 | OMIM:608013 | Gaucher disease, perinatal lethal | | | | | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | GBA1 CL E G H | 2629 | 4177 | ORPHA:2072 | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | HP:0040282 - Frequent | | | | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | GBE1 CL E G H | 2632 | 4180 | OMIM:232500 | Glycogen storage disease IV | . | | | 86 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | GCLC CL E G H | 2729 | 4311 | ORPHA:33574 | Glutamate-cysteine ligase deficiency | HP:0040283 - Occasional | | | 2 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | GLB1 CL E G H | 2720 | 4298 | ORPHA:79255 | GM1 gangliosidosis type 1 | HP:0040281 - Very frequent | | | 120 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | GLRX5 CL E G H | 51218 | 20134 | OMIM:616860 | Anemia, sideroblastic, 3, pyridoxine-refractory | | | | 17 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | GNE CL E G H | 10020 | 23657 | ORPHA:3166 | Sialuria | HP:0040281 - Very frequent | | | 173 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | GNPTAB CL E G H | 79158 | 29670 | ORPHA:576 | Mucolipidosis type II | HP:0040283 - Occasional | | | 240 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | GPR35 CL E G H | 2859 | 4492 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040282 - Frequent | | | 2 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | HAVCR2 CL E G H | 84868 | 18437 | ORPHA:86884 | Subcutaneous panniculitis-like T-cell lymphoma | HP:0040282 - Frequent | | | | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | HBB CL E G H | 3043 | 4827 | ORPHA:231222 | Beta-thalassemia intermedia | HP:0040283 - Occasional | | | 580 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | HBB CL E G H | 3043 | 4827 | ORPHA:231214 | Beta-thalassemia major | HP:0040283 - Occasional | | | 580 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | HBB CL E G H | 3043 | 4827 | ORPHA:231226 | Dominant beta-thalassemia | HP:0040283 - Occasional | | | 580 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | HEXB CL E G H | 3074 | 4879 | OMIM:268800 | Sandhoff disease | . | | | 80 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | HEXB CL E G H | 3074 | 4879 | ORPHA:309155 | Sandhoff disease, infantile form | | | | 80 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | IARS1 CL E G H | 3376 | 5330 | ORPHA:541423 | Growth delay-intellectual disability-hepatopathy syndrome | HP:0040283 - Occasional | | | | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | IDS CL E G H | 3423 | 5389 | ORPHA:217093 | Mucopolysaccharidosis type 2, attenuated form | HP:0040283 - Occasional | | | 86 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | IDS CL E G H | 3423 | 5389 | ORPHA:217085 | Mucopolysaccharidosis type 2, severe form | HP:0040283 - Occasional | | | 86 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | IDS CL E G H | 3423 | 5389 | OMIM:309900 | Mucopolysaccharidosis, type II | | | | 86 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | IDUA CL E G H | 3425 | 5391 | OMIM:607014 | Hurler syndrome | . | | | 115 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | IFIH1 CL E G H | 64135 | 18873 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 28 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | IFNG CL E G H | 3458 | 5438 | OMIM:618963 | IMMUNODEFICIENCY 69; IMD69 | | | | 23 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | IFNGR1 CL E G H | 3459 | 5439 | OMIM:209950 | Immunodeficiency 27A, mycobacteriosis, AR | | | | 60 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | IKBKG CL E G H | 8517 | 5961 | OMIM:301081 | | | | | 52 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | IL2RA CL E G H | 3559 | 6008 | OMIM:606367 | IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41 | | | | 65 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | IL2RA CL E G H | 3559 | 6008 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040284 - Very rare | | | 65 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | IL2RB CL E G H | 3560 | 6009 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040284 - Very rare | | | | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | IL6ST CL E G H | 3572 | 6021 | OMIM:619750 | IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94 | | | | | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | IL7R CL E G H | 3575 | 6024 | ORPHA:169154 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | HP:0040283 - Occasional | | | 94 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | ITCH CL E G H | 83737 | 13890 | ORPHA:228426 | Syndromic multisystem autoimmune disease due to Itch deficiency | HP:0040281 - Very frequent | | | 3 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | JAK1 CL E G H | 3716 | 6190 | OMIM:618999 | AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE | | | | 12 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | JAK2 CL E G H | 3717 | 6192 | ORPHA:824 | Primary myelofibrosis | HP:0040282 - Frequent | | | 57 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | JAK3 CL E G H | 3718 | 6193 | ORPHA:35078 | T-B+ severe combined immunodeficiency due to JAK3 deficiency | HP:0040284 - Very rare | | | 140 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | KIF3B CL E G H | 9371 | 6320 | OMIM:618955 | RETINITIS PIGMENTOSA 89; RP89 | | | | | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | KLF1 CL E G H | 10661 | 6345 | OMIM:613673 | Anemia, dyserythropoietic congenital, type IV | | | | 42 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | KPTN CL E G H | 11133 | 6404 | ORPHA:397612 | Macrocephaly-developmental delay syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | KRAS CL E G H | 3845 | 6407 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 196 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | LBR CL E G H | 3930 | 6518 | OMIM:215140 | Greenberg dysplasia | | | | 70 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | LIPA CL E G H | 3988 | 6617 | OMIM:278000 | Lysosomal acid lipase deficiency | | | | 73 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | LPIN2 CL E G H | 9663 | 14450 | OMIM:609628 | MAJEED SYNDROME; MJDS | | | | 186 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | LPL CL E G H | 4023 | 6677 | OMIM:238600 | Type I hyperlipoproteinemia | . | | | 106 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | LSM11 CL E G H | 134353 | 30860 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | HP:0040282 - Frequent | | | 239 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309288 | Alpha-mannosidosis, adult form | HP:0040283 - Occasional | | | 136 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309282 | Alpha-mannosidosis, infantile form | HP:0040282 - Frequent | | | 136 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | MED12 CL E G H | 9968 | 11957 | OMIM:301068 | HARDIKAR SYNDROME; HDKR | | | | 228 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | MOGS CL E G H | 7841 | 24862 | ORPHA:79330 | MOGS-CDG | HP:0040283 - Occasional | | | 37 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | MPL CL E G H | 4352 | 7217 | ORPHA:824 | Primary myelofibrosis | HP:0040282 - Frequent | | | 97 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | MST1 CL E G H | 4485 | 7380 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040282 - Frequent | | | 1 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | MVK CL E G H | 4598 | 7530 | OMIM:260920 | Hyper-Igd syndrome | | | | 150 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | MVK CL E G H | 4598 | 7530 | OMIM:610377 | Mevalonic aciduria | | | | 150 | | |
HP:0003271 | HP:0006268 | Fluctuating splenomegaly | 2 | MVK CL E G H | 4598 | 7530 | OMIM:610377 | Mevalonic aciduria | . | | | 150 | | |
HP:0003271 | HP:0006564 | Fluctuating hepatomegaly | 2 | MVK CL E G H | 4598 | 7530 | OMIM:610377 | Mevalonic aciduria | . | | | 150 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | NCKAP1L CL E G H | 3071 | 4862 | OMIM:618982 | IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72 | | | | | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | NEU1 CL E G H | 4758 | 7758 | ORPHA:93400 | Congenital sialidosis type 2 | HP:0040282 - Frequent | | | 43 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | NEU1 CL E G H | 4758 | 7758 | ORPHA:93399 | Juvenile sialidosis type 2 | HP:0040283 - Occasional | | | 43 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | NHLRC2 CL E G H | 374354 | 24731 | OMIM:618278 | Fibrosis, neurodegeneration, and cerebral angiomatosis | | | | | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | NLRP3 CL E G H | 114548 | 16400 | OMIM:607115 | CINCA SYNDROME; CINCA | | | | 217 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | NPHP3 CL E G H | 27031 | 7907 | OMIM:267010 | MECKEL SYNDROME, TYPE 7; MKS7 | | | | 157 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | OSTM1 CL E G H | 28962 | 21652 | OMIM:259720 | Osteopetrosis, autosomal recessive 5 | | | | 73 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | PALB2 CL E G H | 79728 | 26144 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 1349 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | PALLD CL E G H | 23022 | 17068 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 192 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | PEX2 CL E G H | 5828 | 9717 | OMIM:614866 | Peroxisome biogenesis disorder 5A (Zellweger) | . | | | 82 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:731 | Autosomal recessive polycystic kidney disease | HP:0040283 - Occasional | | | 563 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | PLEKHM1 CL E G H | 9842 | 29017 | ORPHA:210110 | Intermediate osteopetrosis | HP:0040284 - Very rare | | | 2 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | PRF1 CL E G H | 5551 | 9360 | OMIM:603553 | Hemophagocytic lymphohistiocytosis, familial, 2 | | | | 58 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | PRKCD CL E G H | 5580 | 9399 | OMIM:615559 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 | | | | 10 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | PSTPIP1 CL E G H | 9051 | 9580 | OMIM:604416 | Pyogenic sterile arthritis, pyoderma gangrenosum, and acne | | | | 96 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | PTPN2 CL E G H | 5771 | 9650 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040284 - Very rare | | | | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040284 - Very rare | | | 3 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | PTPRC CL E G H | 5788 | 9666 | OMIM:619924 | | | | | 25 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | RAB27A CL E G H | 5873 | 9766 | OMIM:607624 | Griscelli syndrome, type 2 | | | | 67 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | RABL3 CL E G H | 285282 | 18072 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | RAC2 CL E G H | 5880 | 9802 | OMIM:618986 | IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B | | | | 9 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | RAG1 CL E G H | 5896 | 9831 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | HP:0040283 - Occasional | | | 127 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | RAG2 CL E G H | 5897 | 9832 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | HP:0040283 - Occasional | | | 50 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | RASGRP1 CL E G H | 10125 | 9878 | OMIM:618534 | IMMUNODEFICIENCY 64; IMD64 | | | | | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | RBM8A CL E G H | 9939 | 9905 | OMIM:274000 | Thrombocytopenia-absent radius syndrome | | | | 10 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | RHAG CL E G H | 6005 | 10006 | ORPHA:71275 | Rh deficiency syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | RHCE CL E G H | 6006 | 10008 | ORPHA:71275 | Rh deficiency syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | RHD CL E G H | 6007 | 10009 | ORPHA:71275 | Rh deficiency syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | RNASEH2A CL E G H | 10535 | 18518 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | RNASEH2A CL E G H | 10535 | 18518 | OMIM:610333 | Aicardi-Goutieres syndrome 4 | | | | 33 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | RNASEH2B CL E G H | 79621 | 25671 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 34 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | RNASEH2C CL E G H | 84153 | 24116 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 60 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | RNASEH2C CL E G H | 84153 | 24116 | OMIM:610329 | Aicardi-Goutieres syndrome 3 | | | | 60 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | HP:0040282 - Frequent | | | 15 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | RNU7-1 CL E G H | 100147744 | 34033 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | RNU7-1 CL E G H | 100147744 | 34033 | OMIM:619487 | AICARDI-GOUTIERES SYNDROME 9; AGS9 | | | | | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | RUNX1 CL E G H | 861 | 10471 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040282 - Frequent | | | 181 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | SAMHD1 CL E G H | 25939 | 15925 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 55 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | SC5D CL E G H | 6309 | 10547 | OMIM:607330 | LATHOSTEROLOSIS | | | | 80 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | SCYL1 CL E G H | 57410 | 14372 | ORPHA:466794 | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | SEMA4D CL E G H | 10507 | 10732 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040282 - Frequent | | | | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | SLC25A13 CL E G H | 10165 | 10983 | ORPHA:247598 | Neonatal intrahepatic cholestasis due to citrin deficiency | HP:0040282 - Frequent | | | 82 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | SLC29A3 CL E G H | 55315 | 23096 | ORPHA:168569 | H syndrome | HP:0040282 - Frequent | | | 68 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | SLC29A3 CL E G H | 55315 | 23096 | OMIM:602782 | Histiocytosis-lymphadenopathy plus syndrome | | | | 68 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:168577 | Hereditary cryohydrocytosis with reduced stomatin | HP:0040282 - Frequent | | | 255 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | SLC4A1 CL E G H | 6521 | 11027 | OMIM:611590 | Renal tubular acidosis, distal, with hemolytic anemia | . | | | 109 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | SLC7A7 CL E G H | 9056 | 11065 | ORPHA:470 | Lysinuric protein intolerance | HP:0040282 - Frequent | | | 104 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 504 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | SNX14 CL E G H | 57231 | 14977 | ORPHA:397709 | Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome | HP:0040283 - Occasional | | | 14 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | SOX10 CL E G H | 6663 | 11190 | OMIM:609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | | | | 61 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | SP110 CL E G H | 3431 | 5401 | ORPHA:79124 | Hepatic veno-occlusive disease-immunodeficiency syndrome | HP:0040282 - Frequent | | | 49 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040282 - Frequent | | | 1 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | STAT1 CL E G H | 6772 | 11362 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | HP:0040282 - Frequent | | | 89 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | STAT3 CL E G H | 6774 | 11364 | OMIM:615952 | AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1 | | | | 110 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | STAT4 CL E G H | 6775 | 11365 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040284 - Very rare | | | 2 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | STEAP3 CL E G H | 55240 | 24592 | ORPHA:300298 | Severe congenital hypochromic anemia with ringed sideroblasts | HP:0040283 - Occasional | | | 1 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | STXBP2 CL E G H | 6813 | 11445 | OMIM:613101 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5 | | | | 70 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | TALDO1 CL E G H | 6888 | 11559 | OMIM:606003 | Transaldolase deficiency | | | | 34 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | TALDO1 CL E G H | 6888 | 11559 | ORPHA:101028 | Transaldolase deficiency | HP:0040281 - Very frequent | | | 34 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | TCF4 CL E G H | 6925 | 11634 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040282 - Frequent | | | 241 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:210110 | Intermediate osteopetrosis | HP:0040284 - Very rare | | | 82 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | TET2 CL E G H | 54790 | 25941 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040282 - Frequent | | | 3 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | TET2 CL E G H | 54790 | 25941 | OMIM:619126 | IMMUNODEFICIENCY 75; IMD75 | | | | 3 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | TET2 CL E G H | 54790 | 25941 | ORPHA:824 | Primary myelofibrosis | HP:0040282 - Frequent | | | 3 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | TFE3 CL E G H | 7030 | 11752 | OMIM:301066 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF | | | | | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | TGFB1 CL E G H | 7040 | 11766 | OMIM:219700 | Cystic fibrosis | | | | 13 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:84081 | Senior-Boichis syndrome | | | | 166 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | TNFSF11 CL E G H | 8600 | 11926 | OMIM:259710 | Osteopetrosis, autosomal recessive 2 | . | | | 44 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | TOM1 CL E G H | 10043 | 11982 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | HP:0040282 - Frequent | | | | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | TP53 CL E G H | 7157 | 11998 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 911 | | |
HP:0003271 | HP:0006268 | Fluctuating splenomegaly | 2 | TPP2 CL E G H | 7174 | 12016 | OMIM:619220 | IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78 | | | | | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | TREX1 CL E G H | 11277 | 12269 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 56 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | TULP3 CL E G H | 7289 | 12425 | OMIM:619902 | | | | | | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | UNC13D CL E G H | 201294 | 23147 | OMIM:608898 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3 | | | | 116 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | VPS33A CL E G H | 65082 | 18179 | ORPHA:505248 | Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders | HP:0040281 - Very frequent | | | 1 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | HP:0040283 - Occasional | | | 46 | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0003271 | HP:0001433 | Hepatosplenomegaly | 2 | ZNFX1 CL E G H | 57169 | 29271 | OMIM:619644 | IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91 | | | | | | |