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:0001744 | HP:0001744 | Splenomegaly | 0 | ABCA1 CL E G H | 19 | 29 | OMIM:205400 | Tangier disease | . | | | 191 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | ABCA1 CL E G H | 19 | 29 | ORPHA:31150 | Tangier disease | | | | 191 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | ABCB11 CL E G H | 8647 | 42 | OMIM:601847 | Cholestasis, progressive familial intrahepatic 2 | . | | | 146 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | ABCB4 CL E G H | 5244 | 45 | OMIM:602347 | Cholestasis, progressive familial intrahepatic, 3 | . | | | 111 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | ABCD3 CL E G H | 5825 | 67 | OMIM:616278 | BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5 | | | | 5 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | ABCG8 CL E G H | 64241 | 13887 | OMIM:210250 | Sitosterolemia 1 | . | | | 76 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | ABL1 CL E G H | 25 | 76 | ORPHA:521 | Chronic myeloid leukemia | HP:0040282 - Frequent | | | 51 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | ADA CL E G H | 100 | 186 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 75 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 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:0001744 | HP:0001744 | Splenomegaly | 0 | ADA2 CL E G H | 51816 | 1839 | OMIM:615688 | Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome | | | | 22 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | ADAMTS3 CL E G H | 9508 | 219 | ORPHA:2136 | Hennekam syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 116 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | ADAR CL E G H | 103 | 225 | OMIM:615010 | Aicardi-Goutieres syndrome 6 | | | | 116 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | AFF4 CL E G H | 27125 | 17869 | OMIM:616368 | CHOPS syndrome | | | | 6 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | AGA CL E G H | 175 | 318 | ORPHA:93 | Aspartylglucosaminuria | HP:0040283 - Occasional | | | 76 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | AGPAT2 CL E G H | 10555 | 325 | OMIM:608594 | Lipodystrophy, congenital generalized, type 1 | . | | | 85 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | AKR1D1 CL E G H | 6718 | 388 | OMIM:235555 | Bile acid synthesis defect, congenital, 2 | . | | | 62 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | HP:0040283 - Occasional | | | 54 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | AKT1 CL E G H | 207 | 391 | OMIM:176920 | Proteus syndrome, somatic | . | | | 54 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | ALAS2 CL E G H | 212 | 397 | ORPHA:75563 | X-linked sideroblastic anemia | HP:0040283 - Occasional | | | 72 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | ALDOA CL E G H | 226 | 414 | OMIM:611881 | Glycogen storage disease XII | . | | | 50 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | ALG1 CL E G H | 56052 | 18294 | OMIM:608540 | Congenital disorder of glycosylation, type Ik | . | | | 58 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | ALG9 CL E G H | 79796 | 15672 | OMIM:608776 | Congenital disorder of glycosylation, type Il | | | | 93 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | HP:0040283 - Occasional | | | 404 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | ALPK1 CL E G H | 80216 | 20917 | OMIM:614979 | Splenomegaly, cytopenia, and vision loss | . | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | ANK1 CL E G H | 286 | 492 | ORPHA:251066 | 8p11.2 deletion syndrome | HP:0040283 - Occasional | | | 150 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | ANK1 CL E G H | 286 | 492 | ORPHA:822 | Hereditary spherocytosis | HP:0040282 - Frequent | | | 150 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | ANK1 CL E G H | 286 | 492 | OMIM:182900 | Spherocytosis, type 1 | . | | | 150 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | ANKRD55 CL E G H | 79722 | 25681 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | AP3D1 CL E G H | 8943 | 568 | OMIM:617050 | HERMANSKY-PUDLAK SYNDROME 10; HPS10 | | | | 1 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | APOA1 CL E G H | 335 | 600 | OMIM:105200 | Amyloidosis, familial visceral | . | | | 40 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | APOC2 CL E G H | 344 | 609 | OMIM:207750 | APOLIPOPROTEIN C-II DEFICIENCY | | | | 27 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | APOE CL E G H | 348 | 613 | OMIM:269600 | Sea-Blue histiocyte disease | . | | | 39 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | APOE CL E G H | 348 | 613 | ORPHA:158029 | Sea-blue histiocytosis | HP:0040281 - Very frequent | | | 39 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | ARSB CL E G H | 411 | 714 | OMIM:253200 | Mucopolysaccharidosis, type VI | . | | | 120 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | ASAH1 CL E G H | 427 | 735 | ORPHA:333 | Farber disease | | | | 78 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | ASAH1 CL E G H | 427 | 735 | OMIM:228000 | Farber lipogranulomatosis | . | | | 78 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98850 | Aggressive systemic mastocytosis | | | | 145 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040283 - Occasional | | | 145 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | ATM CL E G H | 472 | 795 | ORPHA:52416 | Mantle cell lymphoma | HP:0040282 - Frequent | | | 3267 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | ATP6AP1 CL E G H | 537 | 868 | OMIM:300972 | IMMUNODEFICIENCY 47; IMD47 | | | | 5 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:3473 | Zimmermann-Laband syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | | | | 315 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | ATP7B CL E G H | 540 | 870 | ORPHA:905 | Wilson disease | HP:0040281 - Very frequent | | | 315 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | ATP8B1 CL E G H | 5205 | 3706 | OMIM:211600 | Cholestasis, progressive familial intrahepatic 1 | | | | 144 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | ATRX CL E G H | 546 | 886 | ORPHA:231401 | Alpha-thalassemia-myelodysplastic syndrome | HP:0040283 - Occasional | | | 169 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | B2M CL E G H | 567 | 914 | OMIM:105200 | Amyloidosis, familial visceral | . | | | 8 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | B4GALT1 CL E G H | 2683 | 924 | ORPHA:79332 | B4GALT1-CDG | | | | 85 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | BACH2 CL E G H | 60468 | 14078 | OMIM:618394 | IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60 | | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | BCL11A CL E G H | 53335 | 13221 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 11 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | BCL2 CL E G H | 596 | 990 | ORPHA:545 | Follicular lymphoma | HP:0040282 - Frequent | | | 1 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | BCL6 CL E G H | 604 | 1001 | ORPHA:545 | Follicular lymphoma | HP:0040282 - Frequent | | | 1 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | BCR CL E G H | 613 | 1014 | ORPHA:521 | Chronic myeloid leukemia | HP:0040282 - Frequent | | | 5 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | BMP2 CL E G H | 650 | 1069 | OMIM:235200 | Hemochromatosis, type 1 | . | | | 13 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | BMP6 CL E G H | 654 | 1073 | ORPHA:465508 | Symptomatic form of hemochromatosis type 1 | HP:0040283 - Occasional | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | . | | | 276 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 5769 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 7642 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | BSCL2 CL E G H | 26580 | 15832 | OMIM:269700 | Lipodystrophy, congenital generalized, type 2 | . | | | 105 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | BTD CL E G H | 686 | 1122 | OMIM:253260 | Biotinidase deficiencymultiple carboxylase deficiency, late-onset | . | | | 223 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | BTNL2 CL E G H | 56244 | 1142 | OMIM:612387 | Sarcoidosis, susceptibility to, 2 | . | | | 1 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | C4A CL E G H | 720 | 1323 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 1 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CA2 CL E G H | 760 | 1373 | OMIM:259730 | Osteopetrosis, autosomal recessive 3 | | | | 29 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CALR CL E G H | 811 | 1455 | ORPHA:131 | Budd-Chiari syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CALR CL E G H | 811 | 1455 | ORPHA:3318 | Essential thrombocythemia | HP:0040282 - Frequent | | | 1 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CALR CL E G H | 811 | 1455 | OMIM:254450 | Myelofibrosismyelofibrosis with myeloid metaplasia, included | | | | 1 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CALR CL E G H | 811 | 1455 | ORPHA:824 | Primary myelofibrosis | HP:0040282 - Frequent | | | 1 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CALR CL E G H | 811 | 1455 | OMIM:187950 | THROMBOCYTHEMIA 1; THCYT1 | | | | 1 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CARD11 CL E G H | 84433 | 16393 | OMIM:616452 | B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA | | | | 45 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CASK CL E G H | 8573 | 1497 | OMIM:300908 | Anemia, nonspherocytic hemolytic, due to g6pd deficiency | HP:0040284 - Very rare | | | 118 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040281 - Very frequent | | | 87 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CASP10 CL E G H | 843 | 1500 | OMIM:603909 | Autoimmune lymphoproliferative syndrome, type IIA | | | | 87 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CASP8 CL E G H | 841 | 1509 | OMIM:607271 | CASPASE 8 DEFICIENCY | | | | 37 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CASR CL E G H | 846 | 1514 | OMIM:239200 | Hyperparathyroidism, neonatal severe | . | | | 272 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CASR CL E G H | 846 | 1514 | ORPHA:417 | Neonatal severe primary hyperparathyroidism | HP:0040281 - Very frequent | | | 272 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CAV1 CL E G H | 857 | 1527 | OMIM:612526 | Lipodystrophy, congenital generalized, type 3 | . | | | 11 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CAVIN1 CL E G H | 284119 | 9688 | OMIM:613327 | Lipodystrophy, congenital generalized, type 4 | . | | | 48 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CBL CL E G H | 867 | 1541 | ORPHA:98850 | Aggressive systemic mastocytosis | | | | 317 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040283 - Occasional | | | 247 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CCBE1 CL E G H | 147372 | 29426 | ORPHA:2136 | Hennekam syndrome | HP:0040282 - Frequent | | | 147 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CCDC115 CL E G H | 84317 | 28178 | OMIM:616828 | Congenital disorder of glycosylation, type IIO | . | | | 3 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CCDC47 CL E G H | 57003 | 24856 | OMIM:618268 | Trichohepatoneurodevelopmental syndrome | HP:0040284 - Very rare | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CCND1 CL E G H | 595 | 1582 | ORPHA:52416 | Mantle cell lymphoma | HP:0040282 - Frequent | | | 1 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CCND1 CL E G H | 595 | 1582 | ORPHA:29073 | Multiple myeloma | HP:0040284 - Very rare | | | 1 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CCR1 CL E G H | 1230 | 1602 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CD19 CL E G H | 930 | 1633 | ORPHA:1572 | Common variable immunodeficiency | HP:0040282 - Frequent | | | 38 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CD19 CL E G H | 930 | 1633 | OMIM:240500 | Immunodeficiency, common variable, 2 | . | | | 38 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CD247 CL E G H | 919 | 1677 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | 8 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CD247 CL E G H | 919 | 1677 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 8 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CD27 CL E G H | 939 | 11922 | OMIM:615122 | Lymphoproliferative syndrome 2 | | | | 4 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CD28 CL E G H | 940 | 1653 | ORPHA:2584 | Classic mycosis fungoides | HP:0040283 - Occasional | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CD28 CL E G H | 940 | 1653 | ORPHA:3162 | Sézary syndrome | HP:0040282 - Frequent | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CD3D CL E G H | 915 | 1673 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 18 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CD3E CL E G H | 916 | 1674 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 24 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CD40LG CL E G H | 959 | 11935 | OMIM:308230 | Immunodeficiency, X-linked, with hyper-IgM | . | | | 33 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CD70 CL E G H | 970 | 11937 | OMIM:618261 | LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3 | | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CD81 CL E G H | 975 | 1701 | ORPHA:1572 | Common variable immunodeficiency | HP:0040282 - Frequent | | | 1 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CDAN1 CL E G H | 146059 | 1713 | OMIM:224120 | Anemia, congenital dyserythropoietic, type Ia | . | | | 86 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CDIN1 CL E G H | 84529 | 26929 | OMIM:615631 | Anemia, congenital dyserythropoietic, type Ib | . | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 289 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CFAP410 CL E G H | 755 | 1260 | OMIM:602271 | Spondylometaphyseal dysplasia, axial | HP:0040284 - Very rare | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CFTR CL E G H | 1080 | 1884 | OMIM:219700 | Cystic fibrosis | | | | 1371 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 515 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CLCN7 CL E G H | 1186 | 2025 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | HP:0040281 - Very frequent | | | 102 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CLCN7 CL E G H | 1186 | 2025 | OMIM:618541 | Hypopigmentation, organomegaly, and delayed myelination and development | . | | | 102 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CLCN7 CL E G H | 1186 | 2025 | ORPHA:210110 | Intermediate osteopetrosis | | | | 102 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CLCN7 CL E G H | 1186 | 2025 | OMIM:611490 | Osteopetrosis, autosomal recessive 4 | . | | | 102 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CLDN1 CL E G H | 9076 | 2032 | ORPHA:59303 | Neonatal ichthyosis-sclerosing cholangitis syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CLPB CL E G H | 81570 | 30664 | OMIM:619813 | NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT; SCN9 | | | | 38 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | COG1 CL E G H | 9382 | 6545 | ORPHA:263508 | COG1-CDG | | | | 52 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | COG4 CL E G H | 25839 | 18620 | ORPHA:263501 | COG4-CDG | | | | 67 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | COG4 CL E G H | 25839 | 18620 | OMIM:613489 | Congenital disorder of glycosylation, type IIj | HP:0040283 - Occasional | | | 67 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | COG5 CL E G H | 10466 | 14857 | ORPHA:263487 | COG5-CDG | | | | 79 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | COG6 CL E G H | 57511 | 18621 | OMIM:614576 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L | | | | 71 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | COG7 CL E G H | 91949 | 18622 | ORPHA:79333 | COG7-CDG | | | | 64 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | COG7 CL E G H | 91949 | 18622 | OMIM:608779 | Congenital disorder of glycosylation, type IIe | . | | | 64 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | COX10 CL E G H | 1352 | 2260 | OMIM:619046 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3 | | | | 82 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | COX4I2 CL E G H | 84701 | 16232 | OMIM:612714 | Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis | . | | | 13 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CPOX CL E G H | 1371 | 2321 | OMIM:121300 | Coproporphyria | . | | | 72 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CPOX CL E G H | 1371 | 2321 | OMIM:618892 | Harderoporphyria | . | | | 72 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CR2 CL E G H | 1380 | 2336 | ORPHA:1572 | Common variable immunodeficiency | HP:0040282 - Frequent | | | 10 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CR2 CL E G H | 1380 | 2336 | OMIM:240500 | Immunodeficiency, common variable, 2 | . | | | 10 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CR2 CL E G H | 1380 | 2336 | OMIM:614699 | IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7 | | | | 10 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CSF3R CL E G H | 1441 | 2439 | OMIM:162830 | Neutrophilia, hereditary | | | | 34 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CTC1 CL E G H | 80169 | 26169 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 160 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CTLA4 CL E G H | 1493 | 2505 | OMIM:616100 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5 | | | | 10 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:2584 | Classic mycosis fungoides | HP:0040283 - Occasional | | | 10 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:3162 | Sézary syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | . | | | 178 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CTSA CL E G H | 5476 | 9251 | OMIM:256540 | Galactosialidosis | | | | 51 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CTSK CL E G H | 1513 | 2536 | ORPHA:763 | Pycnodysostosis | HP:0040283 - Occasional | | | 39 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CYBA CL E G H | 1535 | 2577 | ORPHA:379 | Chronic granulomatous disease | HP:0040283 - Occasional | | | 27 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CYBA CL E G H | 1535 | 2577 | OMIM:233690 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE | . | | | 27 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CYBB CL E G H | 1536 | 2578 | ORPHA:379 | Chronic granulomatous disease | HP:0040283 - Occasional | | | 111 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CYBB CL E G H | 1536 | 2578 | OMIM:306400 | Chronic granulomatous disease, X-linked | . | | | 111 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CYBC1 CL E G H | 79415 | 28672 | ORPHA:379 | Chronic granulomatous disease | HP:0040283 - Occasional | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CYBC1 CL E G H | 79415 | 28672 | OMIM:618935 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5 | | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CYP7B1 CL E G H | 9420 | 2652 | OMIM:613812 | Bile acid synthesis defect, congenital, 3 | . | | | 57 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | CYP7B1 CL E G H | 9420 | 2652 | ORPHA:79302 | Congenital bile acid synthesis defect type 3 | HP:0040281 - Very frequent | | | 57 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | DCDC2 CL E G H | 51473 | 18141 | OMIM:616217 | Nephronophthisis 19 | . | | | 8 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | DCDC2 CL E G H | 51473 | 18141 | OMIM:617394 | Sclerosing cholangitis, neonatal | . | | | 8 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | DCDC2 CL E G H | 51473 | 18141 | ORPHA:84081 | Senior-Boichis syndrome | | | | 8 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:603554 | Omenn syndrome | . | | | 94 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 94 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:602450 | Severe combined immunodeficiency with sensitivity to ionizing radiation | | | | 94 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | DDRGK1 CL E G H | 65992 | 16110 | OMIM:602557 | Spondyloepimetaphyseal dysplasia, Shohat type | . | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | DDRGK1 CL E G H | 65992 | 16110 | ORPHA:93352 | Spondyloepimetaphyseal dysplasia, Shohat type | | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | DGUOK CL E G H | 1716 | 2858 | OMIM:251880 | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | . | | | 57 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | DGUOK CL E G H | 1716 | 2858 | OMIM:617068 | Portal hypertension, noncirrhotic | . | | | 57 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | DHCR24 CL E G H | 1718 | 2859 | ORPHA:35107 | Desmosterolosis | HP:0040283 - Occasional | | | 72 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | DKC1 CL E G H | 1736 | 2890 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 65 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | DLL4 CL E G H | 54567 | 2910 | OMIM:616589 | Adams-Oliver syndrome 6 | | | | 9 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | DNASE1L3 CL E G H | 1776 | 2959 | ORPHA:36412 | Hypocomplementemic urticarial vasculitis | HP:0040283 - Occasional | | | 3 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | DNASE2 CL E G H | 1777 | 2960 | OMIM:619858 | | | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | DPM1 CL E G H | 8813 | 3005 | OMIM:608799 | Congenital disorder of glycosylation, type IE | . | | | 27 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | DPM1 CL E G H | 8813 | 3005 | ORPHA:79322 | DPM1-CDG | | | | 27 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | DYNC2LI1 CL E G H | 51626 | 24595 | OMIM:617088 | Short-rib thoracic dysplasia 15 with polydactyly | . | | | 7 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | DZIP1L CL E G H | 199221 | 26551 | ORPHA:731 | Autosomal recessive polycystic kidney disease | HP:0040282 - Frequent | | | 4 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | DZIP1L CL E G H | 199221 | 26551 | OMIM:617610 | Polycystic kidney disease 5 | | | | 4 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | EPB41 CL E G H | 2035 | 3377 | OMIM:611804 | Elliptocytosis 1 | . | | | 6 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | EPB41 CL E G H | 2035 | 3377 | ORPHA:288 | Hereditary elliptocytosis | HP:0040283 - Occasional | | | 6 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | EPB42 CL E G H | 2038 | 3381 | ORPHA:822 | Hereditary spherocytosis | HP:0040282 - Frequent | | | 51 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | EPB42 CL E G H | 2038 | 3381 | OMIM:612690 | SPHEROCYTOSIS, TYPE 5; SPH5 | | | | 51 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | ERAP1 CL E G H | 51752 | 18173 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 1 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | ERBB3 CL E G H | 2065 | 3431 | OMIM:133180 | Erythroleukemia, familial, susceptibility to | . | | | 12 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040284 - Very rare | | | 199 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:133540 | Cockayne syndrome, type B | . | | | 199 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | ERCC8 CL E G H | 1161 | 3439 | OMIM:216400 | Cockayne syndrome A | . | | | 55 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040284 - Very rare | | | 55 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | F5 CL E G H | 2153 | 3542 | ORPHA:131 | Budd-Chiari syndrome | HP:0040281 - Very frequent | | | 159 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | FAH CL E G H | 2184 | 3579 | ORPHA:882 | Tyrosinemia type 1 | HP:0040283 - Occasional | | | 107 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | FAH CL E G H | 2184 | 3579 | OMIM:276700 | Tyrosinemia, type I | . | | | 107 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | FARSA CL E G H | 2193 | 3592 | OMIM:619013 | RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2 | | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | FAS CL E G H | 355 | 11920 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | . | | | 59 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040281 - Very frequent | | | 59 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | FAS CL E G H | 355 | 11920 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 59 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040281 - Very frequent | | | 37 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | FASLG CL E G H | 356 | 11936 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | . | | | 37 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | FAT4 CL E G H | 79633 | 23109 | ORPHA:2136 | Hennekam syndrome | HP:0040282 - Frequent | | | 114 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | FCGR2A CL E G H | 2212 | 3616 | OMIM:219700 | Cystic fibrosis | | | | 6 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | FCHO1 CL E G H | 23149 | 29002 | OMIM:619164 | IMMUNODEFICIENCY 76; IMD76 | | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | FERMT3 CL E G H | 83706 | 23151 | OMIM:612840 | Leukocyte adhesion deficiency, type III | | | | 23 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | FGA CL E G H | 2243 | 3661 | OMIM:105200 | Amyloidosis, familial visceral | . | | | 47 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:614592 | Bent bone dysplasia syndrome | | | | 175 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:313855 | FGFR2-related bent bone dysplasia | | | | 175 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | FMO3 CL E G H | 2328 | 3771 | OMIM:602079 | Trimethylaminuria | . | | | 55 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | FOXP3 CL E G H | 50943 | 6106 | ORPHA:37042 | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | HP:0040284 - Very rare | | | 32 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | FUCA1 CL E G H | 2517 | 4006 | OMIM:230000 | FUCOSIDOSIS | . | | | 43 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | G6PC3 CL E G H | 92579 | 24861 | OMIM:612541 | Neutropenia, severe congenital, 4, autosomal recessive | . | | | 37 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | G6PD CL E G H | 2539 | 4057 | OMIM:300908 | Anemia, nonspherocytic hemolytic, due to g6pd deficiency | HP:0040284 - Very rare | | | 101 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | GAA CL E G H | 2548 | 4065 | OMIM:232300 | Glycogen storage disease II | . | | | 407 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | GALE CL E G H | 2582 | 4116 | OMIM:230350 | Galactose epimerase deficiency | . | | | 52 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | GALK1 CL E G H | 2584 | 4118 | ORPHA:79237 | Galactokinase deficiency | | | | 23 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:231393 | Beta-thalassemia-X-linked thrombocytopenia syndrome | HP:0040281 - Very frequent | | | 29 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:79277 | Congenital erythropoietic porphyria | HP:0040283 - Occasional | | | 29 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | GATA1 CL E G H | 2623 | 4170 | OMIM:314050 | Thrombocytopenia with beta-thalassemia, X-linked | . | | | 29 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | GATA2 CL E G H | 2624 | 4171 | ORPHA:3226 | Deafness-lymphedema-leukemia syndrome | HP:0040282 - Frequent | | | 137 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:85212 | Fetal Gaucher disease | HP:0040282 - Frequent | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:77259 | Gaucher disease type 1 | HP:0040281 - Very frequent | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:77260 | Gaucher disease type 2 | HP:0040281 - Very frequent | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:77261 | Gaucher disease type 3 | HP:0040281 - Very frequent | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:608013 | Gaucher disease, perinatal lethal | . | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:230800 | Gaucher disease, type I | . | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:230900 | Gaucher disease, type II | . | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:231000 | Gaucher disease, type III | . | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:231005 | Gaucher disease, type IIIC | . | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:2072 | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | HP:0040283 - Occasional | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | GBE1 CL E G H | 2632 | 4180 | OMIM:232500 | Glycogen storage disease IV | | | | 86 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | GCLC CL E G H | 2729 | 4311 | ORPHA:33574 | Glutamate-cysteine ligase deficiency | | | | 2 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | GEMIN4 CL E G H | 50628 | 15717 | OMIM:617913 | Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities | | | | 1 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | GIMAP5 CL E G H | 55340 | 18005 | OMIM:619463 | PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2 | | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | GLB1 CL E G H | 2720 | 4298 | ORPHA:79255 | GM1 gangliosidosis type 1 | | | | 120 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | GLB1 CL E G H | 2720 | 4298 | OMIM:230500 | GM1-gangliosidosis, type I | | | | 120 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | GLIS3 CL E G H | 169792 | 28510 | OMIM:610199 | Diabetes mellitus, neonatal, with congenital hypothyroidism | HP:0040283 - Occasional | | | 143 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | GLRX5 CL E G H | 51218 | 20134 | OMIM:616860 | Anemia, sideroblastic, 3, pyridoxine-refractory | . | | | 17 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | GNE CL E G H | 10020 | 23657 | OMIM:269921 | SIALURIA | . | | | 173 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | GNE CL E G H | 10020 | 23657 | ORPHA:3166 | Sialuria | | | | 173 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | . | | | 240 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | GNPTAB CL E G H | 79158 | 29670 | ORPHA:576 | Mucolipidosis type II | HP:0040284 - Very rare | | | 240 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | . | | | 69 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | GP1BA CL E G H | 2811 | 4439 | OMIM:153670 | Bernard-Soulier syndrome, type A2, autosomal dominant | . | | | 23 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040281 - Very frequent | | | 73 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | GPD1 CL E G H | 2819 | 4455 | OMIM:614480 | Hypertriglyceridemia, transient infantile | HP:0040283 - Occasional | | | 3 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | GPI CL E G H | 2821 | 4458 | OMIM:613470 | Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency | . | | | 12 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | GPIHBP1 CL E G H | 338328 | 24945 | OMIM:615947 | Hyperlipoproteinemia, type ID | . | | | 12 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | GPR35 CL E G H | 2859 | 4492 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040282 - Frequent | | | 2 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | GUSB CL E G H | 2990 | 4696 | ORPHA:584 | Mucopolysaccharidosis type 7 | HP:0040282 - Frequent | | | 54 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | GUSB CL E G H | 2990 | 4696 | OMIM:253220 | Mucopolysaccharidosis, type VII | . | | | 54 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | GYPC CL E G H | 2995 | 4704 | ORPHA:288 | Hereditary elliptocytosis | HP:0040283 - Occasional | | | 5 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | HAMP CL E G H | 57817 | 15598 | OMIM:613313 | Hemochromatosis, type 2B | . | | | 15 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | HAVCR2 CL E G H | 84868 | 18437 | ORPHA:86884 | Subcutaneous panniculitis-like T-cell lymphoma | | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | HAVCR2 CL E G H | 84868 | 18437 | OMIM:618398 | T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE | HP:0040284 - Very rare | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | HBA1 CL E G H | 3039 | 4823 | ORPHA:163596 | Hb Bart's hydrops fetalis | HP:0040282 - Frequent | | | 200 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | HBA1 CL E G H | 3039 | 4823 | OMIM:613978 | Hemoglobin H disease | . | | | 200 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | HBA2 CL E G H | 3040 | 4824 | ORPHA:163596 | Hb Bart's hydrops fetalis | HP:0040282 - Frequent | | | 88 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | HBA2 CL E G H | 3040 | 4824 | OMIM:613978 | Hemoglobin H disease | . | | | 88 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231222 | Beta-thalassemia intermedia | HP:0040283 - Occasional | | | 580 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231214 | Beta-thalassemia major | HP:0040282 - Frequent | | | 580 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | HBB CL E G H | 3043 | 4827 | OMIM:603902 | BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE | | | | 580 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231226 | Dominant beta-thalassemia | HP:0040283 - Occasional | | | 580 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231242 | Hemoglobin C-beta-thalassemia syndrome | HP:0040281 - Very frequent | | | 580 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:90039 | Hemoglobin D disease | | | | 580 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:2133 | Hemoglobin E disease | HP:0040283 - Occasional | | | 580 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:46532 | Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome | HP:0040281 - Very frequent | | | 580 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 580 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | HBB CL E G H | 3043 | 4827 | OMIM:603903 | Sickle cell anemia | . | | | 580 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | HBG1 CL E G H | 3047 | 4831 | ORPHA:46532 | Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome | HP:0040281 - Very frequent | | | 35 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | HBG1 CL E G H | 3047 | 4831 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 35 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | HBG2 CL E G H | 3048 | 4832 | ORPHA:46532 | Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome | HP:0040281 - Very frequent | | | 50 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | HBG2 CL E G H | 3048 | 4832 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 50 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | HEXB CL E G H | 3074 | 4879 | OMIM:268800 | Sandhoff disease | | | | 80 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | HEXB CL E G H | 3074 | 4879 | ORPHA:309155 | Sandhoff disease, infantile form | | | | 80 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | HFE CL E G H | 3077 | 4886 | OMIM:235200 | Hemochromatosis, type 1 | . | | | 38 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | HFE CL E G H | 3077 | 4886 | ORPHA:465508 | Symptomatic form of hemochromatosis type 1 | HP:0040283 - Occasional | | | 38 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | HGSNAT CL E G H | 138050 | 26527 | OMIM:252930 | Mucopolysaccharidosis type IIIC | . | | | 86 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | HJV CL E G H | 148738 | 4887 | OMIM:602390 | Hemochromatosis, type 2A | . | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | HK1 CL E G H | 3098 | 4922 | OMIM:235700 | Hemolytic anemia, nonspherocytic, due to hexokinase deficiency | . | | | 11 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 4 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:545 | Follicular lymphoma | HP:0040282 - Frequent | | | 2 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | OMIM:181000 | Sarcoidosis, susceptibility to, 1 | HP:0040283 - Occasional | | | 2 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 2 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | HPGD CL E G H | 3248 | 5154 | ORPHA:2796 | Pachydermoperiostosis | HP:0040283 - Occasional | | | 55 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | HSD17B4 CL E G H | 3295 | 5213 | OMIM:261515 | D-bifunctional protein deficiency | | | | 98 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | HSD3B7 CL E G H | 80270 | 18324 | OMIM:607765 | Bile acid synthesis defect, congenital, 1 | . | | | 26 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | HSD3B7 CL E G H | 80270 | 18324 | ORPHA:79301 | Congenital bile acid synthesis defect type 1 | HP:0040282 - Frequent | | | 26 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | IARS1 CL E G H | 3376 | 5330 | ORPHA:541423 | Growth delay-intellectual disability-hepatopathy syndrome | | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | ICOS CL E G H | 29851 | 5351 | ORPHA:1572 | Common variable immunodeficiency | HP:0040282 - Frequent | | | 32 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | ICOS CL E G H | 29851 | 5351 | OMIM:607594 | Immunodeficiency, common variable, 1 | . | | | 32 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | ICOS CL E G H | 29851 | 5351 | OMIM:240500 | Immunodeficiency, common variable, 2 | . | | | 32 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | IDS CL E G H | 3423 | 5389 | ORPHA:217093 | Mucopolysaccharidosis type 2, attenuated form | HP:0040283 - Occasional | | | 86 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | IDS CL E G H | 3423 | 5389 | ORPHA:217085 | Mucopolysaccharidosis type 2, severe form | HP:0040283 - Occasional | | | 86 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | IDS CL E G H | 3423 | 5389 | OMIM:309900 | Mucopolysaccharidosis, type II | . | | | 86 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | IDUA CL E G H | 3425 | 5391 | ORPHA:93473 | Hurler syndrome | HP:0040281 - Very frequent | | | 115 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | IDUA CL E G H | 3425 | 5391 | OMIM:607014 | Hurler syndrome | . | | | 115 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | IDUA CL E G H | 3425 | 5391 | ORPHA:93476 | Hurler-Scheie syndrome | HP:0040281 - Very frequent | | | 115 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | IDUA CL E G H | 3425 | 5391 | OMIM:607015 | Hurler-Scheie syndrome | . | | | 115 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | IDUA CL E G H | 3425 | 5391 | ORPHA:93474 | Scheie syndrome | HP:0040282 - Frequent | | | 115 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | IFIH1 CL E G H | 64135 | 18873 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 28 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | IFIH1 CL E G H | 64135 | 18873 | OMIM:615846 | Aicardi-Goutieres syndrome 7 | HP:0040283 - Occasional | | | 28 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | IFNG CL E G H | 3458 | 5438 | OMIM:618963 | IMMUNODEFICIENCY 69; IMD69 | | | | 23 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | IFNGR1 CL E G H | 3459 | 5439 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 60 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | IFNGR1 CL E G H | 3459 | 5439 | OMIM:209950 | Immunodeficiency 27A, mycobacteriosis, AR | | | | 60 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | IFT172 CL E G H | 26160 | 30391 | OMIM:615630 | Short-Rib thoracic dysplasia 10 with or without polydactyly | . | | | 48 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | IGH CL E G H | 3492 | 5477 | ORPHA:545 | Follicular lymphoma | HP:0040282 - Frequent | | | 7 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | IGH CL E G H | 3492 | 5477 | ORPHA:52416 | Mantle cell lymphoma | HP:0040282 - Frequent | | | 7 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | IKBKG CL E G H | 8517 | 5961 | OMIM:301081 | | | | | 52 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | IKZF3 CL E G H | 22806 | 13178 | OMIM:619437 | IMMUNODEFICIENCY 84; IMD84 | | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | IL10 CL E G H | 3586 | 5962 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 2 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | IL12A CL E G H | 3592 | 5969 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | IL12A-AS1 CL E G H | 101928376 | 49094 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | IL1RN CL E G H | 3557 | 6000 | OMIM:612852 | Interleukin 1 receptor antagonist deficiency | . | | | 40 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | IL23R CL E G H | 149233 | 19100 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 1 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | IL2RA CL E G H | 3559 | 6008 | OMIM:606367 | IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41 | | | | 65 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | IL2RA CL E G H | 3559 | 6008 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | 65 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | IL2RB CL E G H | 3560 | 6009 | OMIM:618495 | Immunodeficiency 63 with lymphoproliferation and autoimmunity | . | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | IL2RB CL E G H | 3560 | 6009 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | IL2RG CL E G H | 3561 | 6010 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 48 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | IL6 CL E G H | 3569 | 6018 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 2 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | IL6ST CL E G H | 3572 | 6021 | OMIM:619750 | IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94 | | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | IL7R CL E G H | 3575 | 6024 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 94 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 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:0001744 | HP:0001744 | Splenomegaly | 0 | IL7R CL E G H | 3575 | 6024 | ORPHA:169154 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | | | | 94 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | INPP5E CL E G H | 56623 | 21474 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040283 - Occasional | | | 111 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | INPPL1 CL E G H | 3636 | 6080 | ORPHA:2746 | Opsismodysplasia | HP:0040283 - Occasional | | | 18 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | IRF2BP2 CL E G H | 359948 | 21729 | ORPHA:1572 | Common variable immunodeficiency | HP:0040282 - Frequent | | | 4 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | IRF4 CL E G H | 3662 | 6119 | ORPHA:3452 | Whipple disease | HP:0040282 - Frequent | | | 1 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | IRF8 CL E G H | 3394 | 5358 | OMIM:226990 | Immunodeficiency 32B | . | | | 5 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | ITCH CL E G H | 83737 | 13890 | OMIM:613385 | AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD | | | | 3 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | ITCH CL E G H | 83737 | 13890 | ORPHA:228426 | Syndromic multisystem autoimmune disease due to Itch deficiency | | | | 3 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | ITK CL E G H | 3702 | 6171 | OMIM:613011 | LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1 | | | | 51 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | JAK1 CL E G H | 3716 | 6190 | OMIM:618999 | AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE | | | | 12 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | JAK2 CL E G H | 3717 | 6192 | ORPHA:131 | Budd-Chiari syndrome | HP:0040281 - Very frequent | | | 57 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | JAK2 CL E G H | 3717 | 6192 | OMIM:133100 | Erythrocytosis, familial, 1 | . | | | 57 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | JAK2 CL E G H | 3717 | 6192 | ORPHA:3318 | Essential thrombocythemia | HP:0040282 - Frequent | | | 57 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | JAK2 CL E G H | 3717 | 6192 | ORPHA:71493 | Familial thrombocytosis | HP:0040282 - Frequent | | | 57 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | JAK2 CL E G H | 3717 | 6192 | OMIM:254450 | Myelofibrosismyelofibrosis with myeloid metaplasia, included | | | | 57 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | JAK2 CL E G H | 3717 | 6192 | OMIM:263300 | Polycythemia vera | . | | | 57 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | JAK2 CL E G H | 3717 | 6192 | ORPHA:729 | Polycythemia vera | HP:0040281 - Very frequent | | | 57 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | JAK2 CL E G H | 3717 | 6192 | ORPHA:824 | Primary myelofibrosis | HP:0040282 - Frequent | | | 57 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | JAK3 CL E G H | 3718 | 6193 | ORPHA:35078 | T-B+ severe combined immunodeficiency due to JAK3 deficiency | | | | 140 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:3473 | Zimmermann-Laband syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | KCNH1 CL E G H | 3756 | 6250 | OMIM:135500 | Zimmermann-Laband syndrome 1 | . | | | 13 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | KCNN3 CL E G H | 3782 | 6292 | ORPHA:3473 | Zimmermann-Laband syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | KCNN4 CL E G H | 3783 | 6293 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | HP:0040282 - Frequent | | | 3 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | KCNN4 CL E G H | 3783 | 6293 | OMIM:616689 | Dehydrated hereditary stomatocytosis 2 | . | | | 3 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | KIF3B CL E G H | 9371 | 6320 | OMIM:618955 | RETINITIS PIGMENTOSA 89; RP89 | | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | KIT CL E G H | 3815 | 6342 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040283 - Occasional | | | 327 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | KLF1 CL E G H | 10661 | 6345 | OMIM:613673 | Anemia, dyserythropoietic congenital, type IV | . | | | 42 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | KLF1 CL E G H | 10661 | 6345 | ORPHA:46532 | Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome | HP:0040281 - Very frequent | | | 42 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | KLF1 CL E G H | 10661 | 6345 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 42 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | KLRC4 CL E G H | 8302 | 6377 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | KPTN CL E G H | 11133 | 6404 | ORPHA:397612 | Macrocephaly-developmental delay syndrome | | | | 13 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | KPTN CL E G H | 11133 | 6404 | OMIM:615637 | Mental retardation, autosomal recessive 41 | | | | 13 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 196 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:614470 | RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic | . | | | 196 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | LACC1 CL E G H | 144811 | 26789 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 1 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | LAT CL E G H | 27040 | 18874 | OMIM:617514 | Immunodeficiency 52 | | | | 2 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | LBR CL E G H | 3930 | 6518 | OMIM:215140 | Greenberg dysplasia | | | | 70 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | LBR CL E G H | 3930 | 6518 | OMIM:613471 | Reynolds syndrome | . | | | 70 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | LCAT CL E G H | 3931 | 6522 | ORPHA:79292 | Fish-eye disease | HP:0040283 - Occasional | | | 26 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | LIG4 CL E G H | 3981 | 6601 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 88 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | LIPA CL E G H | 3988 | 6617 | ORPHA:75234 | Cholesteryl ester storage disease | HP:0040282 - Frequent | | | 73 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | LIPA CL E G H | 3988 | 6617 | OMIM:278000 | Lysosomal acid lipase deficiency | | | | 73 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | LIPA CL E G H | 3988 | 6617 | ORPHA:75233 | Wolman disease | HP:0040282 - Frequent | | | 73 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:280365 | Autosomal semi-dominant severe lipodystrophic laminopathy | HP:0040283 - Occasional | | | 645 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:2348 | Familial partial lipodystrophy, Dunnigan type | HP:0040283 - Occasional | | | 645 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | LPIN2 CL E G H | 9663 | 14450 | ORPHA:77297 | Majeed syndrome | HP:0040282 - Frequent | | | 186 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | LPIN2 CL E G H | 9663 | 14450 | OMIM:609628 | MAJEED SYNDROME; MJDS | | | | 186 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | LPL CL E G H | 4023 | 6677 | OMIM:238600 | Type I hyperlipoproteinemia | . | | | 106 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | LRBA CL E G H | 987 | 1742 | OMIM:614700 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 | | | | 45 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | LSM11 CL E G H | 134353 | 30860 | ORPHA:51 | Aicardi-Goutières syndrome | | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | HP:0040282 - Frequent | | | 239 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | LYST CL E G H | 1130 | 1968 | OMIM:214500 | Chediak-Higashi syndrome | | | | 239 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | LYZ CL E G H | 4069 | 6740 | OMIM:105200 | Amyloidosis, familial visceral | . | | | 32 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 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:0001744 | HP:0001744 | Splenomegaly | 0 | MAN2B1 CL E G H | 4125 | 6826 | OMIM:248500 | Alpha-mannosidosis | . | | | 136 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309288 | Alpha-mannosidosis, adult form | | | | 136 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309282 | Alpha-mannosidosis, infantile form | | | | 136 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | MCM4 CL E G H | 4173 | 6947 | OMIM:609981 | Immunodeficiency 54 | . | | | 69 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:301068 | HARDIKAR SYNDROME; HDKR | | | | 228 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | MEFV CL E G H | 4210 | 6998 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 281 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | MEFV CL E G H | 4210 | 6998 | ORPHA:342 | Familial Mediterranean fever | HP:0040283 - Occasional | | | 281 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | MEFV CL E G H | 4210 | 6998 | OMIM:249100 | Familial Mediterranean fever, AR | | | | 281 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | MICU1 CL E G H | 10367 | 1530 | OMIM:615673 | Myopathy with extrapyramidal signs | | | | 14 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | MIF CL E G H | 4282 | 7097 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 1 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | MKS1 CL E G H | 54903 | 7121 | OMIM:249000 | Meckel syndrome 1 | . | | | 127 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | MMUT CL E G H | 4594 | 7526 | ORPHA:79312 | Vitamin B12-unresponsive methylmalonic acidemia type mut- | HP:0040282 - Frequent | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | MOGS CL E G H | 7841 | 24862 | ORPHA:79330 | MOGS-CDG | | | | 37 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | MPIG6B CL E G H | 80739 | 13937 | OMIM:617441 | Thrombocytopenia, anemia, and myelofibrosis | HP:0040283 - Occasional | | | 1 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | MPL CL E G H | 4352 | 7217 | ORPHA:3318 | Essential thrombocythemia | HP:0040282 - Frequent | | | 97 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | MPL CL E G H | 4352 | 7217 | ORPHA:71493 | Familial thrombocytosis | HP:0040282 - Frequent | | | 97 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | MPL CL E G H | 4352 | 7217 | OMIM:254450 | Myelofibrosismyelofibrosis with myeloid metaplasia, included | | | | 97 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | MPL CL E G H | 4352 | 7217 | ORPHA:729 | Polycythemia vera | HP:0040281 - Very frequent | | | 97 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | MPL CL E G H | 4352 | 7217 | ORPHA:824 | Primary myelofibrosis | HP:0040282 - Frequent | | | 97 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | MS4A1 CL E G H | 931 | 7315 | ORPHA:1572 | Common variable immunodeficiency | HP:0040282 - Frequent | | | 1 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | MST1 CL E G H | 4485 | 7380 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040282 - Frequent | | | 1 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | MVK CL E G H | 4598 | 7530 | OMIM:260920 | Hyper-Igd syndrome | | | | 150 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | MVK CL E G H | 4598 | 7530 | ORPHA:29 | Mevalonic aciduria | HP:0040281 - Very frequent | | | 150 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | MVK CL E G H | 4598 | 7530 | OMIM:610377 | Mevalonic aciduria | | | | 150 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | MYD88 CL E G H | 4615 | 7562 | ORPHA:33226 | Waldenström macroglobulinemia | HP:0040283 - Occasional | | | 9 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | MYO5B CL E G H | 4645 | 7603 | OMIM:619868 | | | | | 192 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | NAGLU CL E G H | 4669 | 7632 | OMIM:252920 | Mucopolysaccharidosis type IIIB | . | | | 72 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | NBEAL2 CL E G H | 23218 | 31928 | OMIM:139090 | Gray platelet syndrome | . | | | 127 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | NBEAL2 CL E G H | 23218 | 31928 | ORPHA:721 | Gray platelet syndrome | HP:0040282 - Frequent | | | 127 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:379 | Chronic granulomatous disease | HP:0040283 - Occasional | | | 13 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | NCF1 CL E G H | 653361 | 7660 | OMIM:233700 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I | . | | | 13 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | NCF2 CL E G H | 4688 | 7661 | ORPHA:379 | Chronic granulomatous disease | HP:0040283 - Occasional | | | 67 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | NCF2 CL E G H | 4688 | 7661 | OMIM:233710 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II | . | | | 67 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | NCF4 CL E G H | 4689 | 7662 | ORPHA:379 | Chronic granulomatous disease | HP:0040283 - Occasional | | | 37 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | NCKAP1L CL E G H | 3071 | 4862 | OMIM:618982 | IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72 | | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | NDUFS4 CL E G H | 4724 | 7711 | OMIM:252010 | Mitochondrial complex I deficiency, nuclear type 1 | | | | 27 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | NEU1 CL E G H | 4758 | 7758 | ORPHA:93400 | Congenital sialidosis type 2 | | | | 43 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | NEU1 CL E G H | 4758 | 7758 | ORPHA:93399 | Juvenile sialidosis type 2 | | | | 43 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | NEU1 CL E G H | 4758 | 7758 | OMIM:256550 | Neuraminidase deficiency | . | | | 43 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | NEU1 CL E G H | 4758 | 7758 | ORPHA:812 | Sialidosis type 1 | HP:0040281 - Very frequent | | | 43 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | NFKB1 CL E G H | 4790 | 7794 | ORPHA:1572 | Common variable immunodeficiency | HP:0040282 - Frequent | | | 7 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:1572 | Common variable immunodeficiency | HP:0040282 - Frequent | | | 11 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | NGLY1 CL E G H | 55768 | 17646 | ORPHA:404454 | Alacrimia-choreoathetosis-liver dysfunction syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | NHLRC2 CL E G H | 374354 | 24731 | OMIM:618278 | Fibrosis, neurodegeneration, and cerebral angiomatosis | | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | NHP2 CL E G H | 55651 | 14377 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 27 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | NLRC4 CL E G H | 58484 | 16412 | OMIM:616050 | AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC | | | | 30 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | NLRP1 CL E G H | 22861 | 14374 | OMIM:617388 | AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK | | | | 37 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | NLRP12 CL E G H | 91662 | 22938 | OMIM:611762 | Familial cold autoinflammatory syndrome 2 | | | | 99 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:1451 | CINCA syndrome | HP:0040282 - Frequent | | | 217 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | NLRP3 CL E G H | 114548 | 16400 | OMIM:607115 | CINCA SYNDROME; CINCA | | | | 217 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:575 | Muckle-Wells syndrome | HP:0040281 - Very frequent | | | 217 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | NOD2 CL E G H | 64127 | 5331 | ORPHA:90340 | Blau syndrome | HP:0040283 - Occasional | | | 187 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | NOP10 CL E G H | 55505 | 14378 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 17 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | NOTCH1 CL E G H | 4851 | 7881 | OMIM:616028 | Adams-Oliver syndrome 5 | HP:0040283 - Occasional | | | 452 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | NOTCH2 CL E G H | 4853 | 7882 | ORPHA:955 | Hajdu-Cheney syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | NPC1 CL E G H | 4864 | 7897 | OMIM:257220 | Niemann-pick disease, type C1 | | | | 258 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | NPC2 CL E G H | 10577 | 14537 | OMIM:607625 | Niemann-pick disease, type C2 | . | | | 33 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | NPHP3 CL E G H | 27031 | 7907 | OMIM:267010 | MECKEL SYNDROME, TYPE 7; MKS7 | | | | 157 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | NPHP3 CL E G H | 27031 | 7907 | OMIM:208540 | Renal-Hepatic-Pancreatic dysplasia | | | | 157 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | NPM1 CL E G H | 4869 | 7910 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 12 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | NRAS CL E G H | 4893 | 7989 | OMIM:614470 | RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic | . | | | 102 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | OAS1 CL E G H | 4938 | 8086 | OMIM:618042 | Pulmonary alveolar proteinosis with hypogammaglobulinemia | | | | 2 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | OCLN CL E G H | 100506658 | 8104 | OMIM:251290 | Band-Like calcification with simplified gyration and polymicrogyria | . | | | 23 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | OSTM1 CL E G H | 28962 | 21652 | OMIM:259720 | Osteopetrosis, autosomal recessive 5 | . | | | 73 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | OTC CL E G H | 5009 | 8512 | ORPHA:664 | Ornithine transcarbamylase deficiency | HP:0040281 - Very frequent | | | 369 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | PALB2 CL E G H | 79728 | 26144 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 1349 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | PALLD CL E G H | 23022 | 17068 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 192 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | PARN CL E G H | 5073 | 8609 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 26 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | PDGFRA CL E G H | 5156 | 8803 | OMIM:607685 | Hypereosinophilic syndrome, idiopathic | . | | | 337 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | PEPD CL E G H | 5184 | 8840 | OMIM:170100 | Prolidase deficiency | | | | 66 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | PEPD CL E G H | 5184 | 8840 | ORPHA:742 | Prolidase deficiency | HP:0040283 - Occasional | | | 66 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | PEX2 CL E G H | 5828 | 9717 | OMIM:614866 | Peroxisome biogenesis disorder 5A (Zellweger) | . | | | 82 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | PEX7 CL E G H | 5191 | 8860 | ORPHA:773 | Refsum disease | HP:0040282 - Frequent | | | 72 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | PHKA2 CL E G H | 5256 | 8926 | ORPHA:264580 | Glycogen storage disease due to liver phosphorylase kinase deficiency | HP:0040284 - Very rare | | | 54 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | PHKA2 CL E G H | 5256 | 8926 | OMIM:306000 | Glycogen storage disease ixa | | | | 54 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | PHKB CL E G H | 5257 | 8927 | ORPHA:79240 | Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency | | | | 101 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | PHKB CL E G H | 5257 | 8927 | OMIM:261750 | Glycogen storage disease ixb | | | | 101 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | PHKG2 CL E G H | 5261 | 8931 | ORPHA:264580 | Glycogen storage disease due to liver phosphorylase kinase deficiency | HP:0040284 - Very rare | | | 48 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | PHKG2 CL E G H | 5261 | 8931 | OMIM:613027 | Glycogen storage disease IXc | . | | | 48 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | PHYH CL E G H | 5264 | 8940 | ORPHA:773 | Refsum disease | HP:0040282 - Frequent | | | 45 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | PIEZO1 CL E G H | 9780 | 28993 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | HP:0040282 - Frequent | | | 36 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | 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:0001744 | HP:0001744 | Splenomegaly | 0 | PIEZO1 CL E G H | 9780 | 28993 | OMIM:616843 | Lymphedema, hereditary, III | | | | 36 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | PIGA CL E G H | 5277 | 8957 | OMIM:301072 | NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH | | | | 46 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | PIGM CL E G H | 93183 | 18858 | OMIM:610293 | Glycosylphosphatidylinositol deficiency | . | | | 6 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | PIK3C2A CL E G H | 5286 | 8971 | OMIM:618440 | Oculoskeletodental syndrome | . | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | PIK3CA CL E G H | 5290 | 8975 | OMIM:612918 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | . | | | 162 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | PIK3CD CL E G H | 5293 | 8977 | OMIM:615513 | IMMUNODEFICIENCY 14; IMD14 | | | | 9 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:616005 | Immunodeficiency 36 | . | | | 43 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:731 | Autosomal recessive polycystic kidney disease | HP:0040282 - Frequent | | | 563 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:53035 | Caroli disease | HP:0040283 - Occasional | | | 563 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | PKHD1 CL E G H | 5314 | 9016 | OMIM:263200 | Polycystic kidney disease 4 with or without polycystic liver disease | . | | | 563 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | PKLR CL E G H | 5313 | 9020 | ORPHA:766 | Hemolytic anemia due to red cell pyruvate kinase deficiency | HP:0040281 - Very frequent | | | 51 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | PKLR CL E G H | 5313 | 9020 | OMIM:266200 | Pyruvate kinase deficiency of red cells | . | | | 51 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | PLEKHM1 CL E G H | 9842 | 29017 | ORPHA:210110 | Intermediate osteopetrosis | | | | 2 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | PLEKHM1 CL E G H | 9842 | 29017 | OMIM:618107 | OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA3 | | | | 2 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | PNP CL E G H | 4860 | 7892 | OMIM:613179 | Immunodeficiency due to purine nucleoside phosphorylase deficiency | . | | | 52 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | PNPLA2 CL E G H | 57104 | 30802 | ORPHA:565612 | Triglyceride deposit cardiomyovasculopathy | HP:0040284 - Very rare | | | 65 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | PPARG CL E G H | 5468 | 9236 | ORPHA:79083 | PPARG-related familial partial lipodystrophy | HP:0040283 - Occasional | | | 42 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | PRF1 CL E G H | 5551 | 9360 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040282 - Frequent | | | 58 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | PRF1 CL E G H | 5551 | 9360 | OMIM:603553 | Hemophagocytic lymphohistiocytosis, familial, 2 | | | | 58 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040281 - Very frequent | | | 10 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | PRKCD CL E G H | 5580 | 9399 | OMIM:615559 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 | | | | 10 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | PRKCD CL E G H | 5580 | 9399 | ORPHA:1572 | Common variable immunodeficiency | HP:0040282 - Frequent | | | 10 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | PSAP CL E G H | 5660 | 9498 | OMIM:611721 | Combined saposin deficiency | . | | | 81 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:139406 | Encephalopathy due to prosaposin deficiency | HP:0040281 - Very frequent | | | 81 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | PSAP CL E G H | 5660 | 9498 | OMIM:610539 | Gaucher disease, atypical | | | | 81 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | PSMB10 CL E G H | 5699 | 9538 | OMIM:619175 | PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5; PRAAS5 | | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | PSMB4 CL E G H | 5692 | 9541 | OMIM:617591 | Proteasome-Associated autoinflammatory syndrome 3 | . | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | PSMB8 CL E G H | 5696 | 9545 | OMIM:256040 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | | | | 20 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | PSMB9 CL E G H | 5698 | 9546 | OMIM:617591 | Proteasome-Associated autoinflammatory syndrome 3 | . | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | PSMG2 CL E G H | 56984 | 24929 | OMIM:619183 | PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4 | | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | PSTPIP1 CL E G H | 9051 | 9580 | OMIM:604416 | Pyogenic sterile arthritis, pyoderma gangrenosum, and acne | | | | 96 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | PTEN CL E G H | 5728 | 9588 | OMIM:605309 | Macrocephaly/autism syndrome | HP:0040284 - Very rare | | | 948 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:2969 | Proteus-like syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | PTPN2 CL E G H | 5771 | 9650 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | 3 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | PTPRC CL E G H | 5788 | 9666 | OMIM:619924 | | | | | 25 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | RAB27A CL E G H | 5873 | 9766 | ORPHA:79477 | Griscelli syndrome type 2 | HP:0040281 - Very frequent | | | 67 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | RAB27A CL E G H | 5873 | 9766 | OMIM:607624 | Griscelli syndrome, type 2 | | | | 67 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | RABL3 CL E G H | 285282 | 18072 | ORPHA:1333 | Familial pancreatic carcinoma | | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | RAC2 CL E G H | 5880 | 9802 | OMIM:618986 | IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B | | | | 9 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | RAG1 CL E G H | 5896 | 9831 | ORPHA:231154 | Combined immunodeficiency due to partial RAG1 deficiency | HP:0040281 - Very frequent | | | 127 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | RAG1 CL E G H | 5896 | 9831 | OMIM:603554 | Omenn syndrome | . | | | 127 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | RAG1 CL E G H | 5896 | 9831 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 127 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | RAG1 CL E G H | 5896 | 9831 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | | | | 127 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | RAG2 CL E G H | 5897 | 9832 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 50 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | RAG2 CL E G H | 5897 | 9832 | OMIM:603554 | Omenn syndrome | . | | | 50 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | RAG2 CL E G H | 5897 | 9832 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | | | | 50 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | RASGRP1 CL E G H | 10125 | 9878 | OMIM:618534 | IMMUNODEFICIENCY 64; IMD64 | | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | RBCK1 CL E G H | 10616 | 15864 | OMIM:615895 | Polyglucosan body myopathy 1 with or without immunodeficiency | | | | 10 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | RBM8A CL E G H | 9939 | 9905 | OMIM:274000 | Thrombocytopenia-absent radius syndrome | | | | 10 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | RHAG CL E G H | 6005 | 10006 | ORPHA:3203 | Overhydrated hereditary stomatocytosis | HP:0040283 - Occasional | | | 13 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | RHAG CL E G H | 6005 | 10006 | OMIM:185000 | Overhydrated hereditary stomatocytosis | . | | | 13 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | RHAG CL E G H | 6005 | 10006 | ORPHA:71275 | Rh deficiency syndrome | | | | 13 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | RHCE CL E G H | 6006 | 10008 | ORPHA:71275 | Rh deficiency syndrome | | | | 8 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | RHD CL E G H | 6007 | 10009 | OMIM:619462 | Hemolytic disease of fetus and newborn, RH-induced | | | | 16 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | RHD CL E G H | 6007 | 10009 | ORPHA:71275 | Rh deficiency syndrome | | | | 16 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | RINT1 CL E G H | 60561 | 21876 | OMIM:618641 | INFANTILE LIVER FAILURE SYNDROME 3; ILFS3 | | | | 99 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | RIPK1 CL E G H | 8737 | 10019 | OMIM:618852 | AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL | | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | RMRP CL E G H | 6023 | 10031 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | RNASEH2A CL E G H | 10535 | 18518 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 33 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | RNASEH2A CL E G H | 10535 | 18518 | OMIM:610333 | Aicardi-Goutieres syndrome 4 | . | | | 33 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | RNASEH2B CL E G H | 79621 | 25671 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 34 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | RNASEH2C CL E G H | 84153 | 24116 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 60 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | RNASEH2C CL E G H | 84153 | 24116 | OMIM:610329 | Aicardi-Goutieres syndrome 3 | | | | 60 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:616651 | Roifman syndrome | | | | 15 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | | | | 15 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | RNU7-1 CL E G H | 100147744 | 34033 | ORPHA:51 | Aicardi-Goutières syndrome | | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | RNU7-1 CL E G H | 100147744 | 34033 | OMIM:619487 | AICARDI-GOUTIERES SYNDROME 9; AGS9 | | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040283 - Occasional | | | 167 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 77 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | RUNX1 CL E G H | 861 | 10471 | ORPHA:98850 | Aggressive systemic mastocytosis | | | | 181 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | RUNX1 CL E G H | 861 | 10471 | ORPHA:521 | Chronic myeloid leukemia | HP:0040282 - Frequent | | | 181 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SAMD9L CL E G H | 219285 | 1349 | ORPHA:2585 | Ataxia-pancytopenia syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SAMHD1 CL E G H | 25939 | 15925 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 55 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SC5D CL E G H | 6309 | 10547 | OMIM:607330 | LATHOSTEROLOSIS | | | | 80 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SCARB2 CL E G H | 950 | 1665 | ORPHA:77259 | Gaucher disease type 1 | HP:0040281 - Very frequent | | | 77 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SCYL1 CL E G H | 57410 | 14372 | ORPHA:466794 | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | | | | 5 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SCYL1 CL E G H | 57410 | 14372 | OMIM:616719 | Spinocerebellar ataxia, autosomal recessive 21 | . | | | 5 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SEC23B CL E G H | 10483 | 10702 | OMIM:224100 | Anemia, dyserythropoietic congenital, type II | . | | | 60 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SEMA4D CL E G H | 10507 | 10732 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040282 - Frequent | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SERPINA1 CL E G H | 5265 | 8941 | OMIM:613490 | Alpha-1-Antitrypsin deficiency | | | | 131 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SF3B1 CL E G H | 23451 | 10768 | ORPHA:75564 | Acquired idiopathic sideroblastic anemia | HP:0040283 - Occasional | | | 19 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SGSH CL E G H | 6448 | 10818 | OMIM:252900 | Mucopolysaccharidosis type IIIA | . | | | 97 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SH2B3 CL E G H | 10019 | 29605 | OMIM:133100 | Erythrocytosis, familial, 1 | . | | | 4 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SH2B3 CL E G H | 10019 | 29605 | ORPHA:3318 | Essential thrombocythemia | HP:0040282 - Frequent | | | 4 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SH2B3 CL E G H | 10019 | 29605 | OMIM:254450 | Myelofibrosismyelofibrosis with myeloid metaplasia, included | | | | 4 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SH2B3 CL E G H | 10019 | 29605 | OMIM:187950 | THROMBOCYTHEMIA 1; THCYT1 | | | | 4 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SH2D1A CL E G H | 4068 | 10820 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 37 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SKIC2 CL E G H | 6499 | 10898 | ORPHA:84064 | Syndromic diarrhea | HP:0040284 - Very rare | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SKIC3 CL E G H | 9652 | 23639 | ORPHA:84064 | Syndromic diarrhea | HP:0040284 - Very rare | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SKIC3 CL E G H | 9652 | 23639 | OMIM:222470 | Trichohepatoenteric syndrome 1 | | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SLC17A5 CL E G H | 26503 | 10933 | OMIM:269920 | Infantile sialic acid storage disease | . | | | 78 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SLC25A13 CL E G H | 10165 | 10983 | ORPHA:247598 | Neonatal intrahepatic cholestasis due to citrin deficiency | | | | 82 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SLC29A3 CL E G H | 55315 | 23096 | ORPHA:168569 | H syndrome | | | | 68 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SLC29A3 CL E G H | 55315 | 23096 | OMIM:602782 | Histiocytosis-lymphadenopathy plus syndrome | | | | 68 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SLC2A1 CL E G H | 6513 | 11005 | OMIM:612126 | Glut1 deficiency syndrome 2 | | | | 255 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:168577 | Hereditary cryohydrocytosis with reduced stomatin | | | | 255 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SLC2A1 CL E G H | 6513 | 11005 | OMIM:608885 | Stomatin-Deficient cryohydrocytosis with neurologic defects | . | | | 255 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SLC30A10 CL E G H | 55532 | 25355 | ORPHA:309854 | Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome | HP:0040282 - Frequent | | | 42 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:619525 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W | | | | 110 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:232220 | Glycogen storage disease ib | | | | 110 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SLC39A4 CL E G H | 55630 | 17129 | OMIM:201100 | Acrodermatitis enteropathica, Zinc-Deficiency type | . | | | 55 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SLC4A1 CL E G H | 6521 | 11027 | OMIM:185020 | CRYOHYDROCYTOSIS | . | | | 109 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SLC4A1 CL E G H | 6521 | 11027 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | HP:0040282 - Frequent | | | 109 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SLC4A1 CL E G H | 6521 | 11027 | ORPHA:822 | Hereditary spherocytosis | HP:0040282 - Frequent | | | 109 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SLC4A1 CL E G H | 6521 | 11027 | OMIM:611590 | Renal tubular acidosis, distal, with hemolytic anemia | | | | 109 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SLC4A1 CL E G H | 6521 | 11027 | OMIM:612653 | Spherocytosis, type 4 | . | | | 109 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SLC7A7 CL E G H | 9056 | 11065 | ORPHA:470 | Lysinuric protein intolerance | | | | 104 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SLC7A7 CL E G H | 9056 | 11065 | OMIM:222700 | Lysinuric protein intolerance | . | | | 104 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SLCO2A1 CL E G H | 6578 | 10955 | ORPHA:2796 | Pachydermoperiostosis | HP:0040283 - Occasional | | | 13 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 504 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SMPD1 CL E G H | 6609 | 11120 | ORPHA:77293 | Niemann-Pick disease type B | HP:0040282 - Frequent | | | 164 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SMPD1 CL E G H | 6609 | 11120 | OMIM:257200 | Niemann-Pick disease, type A | . | | | 164 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SMPD1 CL E G H | 6609 | 11120 | OMIM:607616 | Niemann-pick disease, type B | . | | | 164 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SNX10 CL E G H | 29887 | 14974 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | HP:0040281 - Very frequent | | | 2 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SNX10 CL E G H | 29887 | 14974 | OMIM:615085 | Osteopetrosis, autosomal recessive 8 | . | | | 2 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SNX14 CL E G H | 57231 | 14977 | ORPHA:397709 | Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome | | | | 14 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SNX14 CL E G H | 57231 | 14977 | OMIM:616354 | Spinocerebellar ataxia, autosomal recessive 20 | | | | 14 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SOCS1 CL E G H | 8651 | 19383 | OMIM:619375 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD | | | | 6 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SOX10 CL E G H | 6663 | 11190 | OMIM:609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | | | | 61 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SOX10 CL E G H | 6663 | 11190 | ORPHA:163746 | Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease | HP:0040283 - Occasional | | | 61 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SP110 CL E G H | 3431 | 5401 | ORPHA:79124 | Hepatic veno-occlusive disease-immunodeficiency syndrome | | | | 49 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SPTA1 CL E G H | 6708 | 11272 | ORPHA:288 | Hereditary elliptocytosis | HP:0040283 - Occasional | | | 228 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SPTA1 CL E G H | 6708 | 11272 | ORPHA:822 | Hereditary spherocytosis | HP:0040282 - Frequent | | | 228 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SPTB CL E G H | 6710 | 11274 | ORPHA:288 | Hereditary elliptocytosis | HP:0040283 - Occasional | | | 156 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SPTB CL E G H | 6710 | 11274 | ORPHA:822 | Hereditary spherocytosis | HP:0040282 - Frequent | | | 156 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SPTB CL E G H | 6710 | 11274 | OMIM:616649 | SPHEROCYTOSIS, TYPE 2; SPH2 | | | | 156 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98850 | Aggressive systemic mastocytosis | | | | 1 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040283 - Occasional | | | 1 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | STAT1 CL E G H | 6772 | 11362 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | | | | 89 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | STAT1 CL E G H | 6772 | 11362 | OMIM:614162 | Immunodeficiency 31C | | | | 89 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | STAT3 CL E G H | 6774 | 11364 | OMIM:615952 | AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1 | | | | 110 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 2 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | 2 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | STEAP3 CL E G H | 55240 | 24592 | OMIM:615234 | Anemia, hypochromic microcytic, with iron overload 2 | . | | | 1 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | STEAP3 CL E G H | 55240 | 24592 | ORPHA:300298 | Severe congenital hypochromic anemia with ringed sideroblasts | | | | 1 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | STX11 CL E G H | 8676 | 11429 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040282 - Frequent | | | 85 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | STX11 CL E G H | 8676 | 11429 | OMIM:603552 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4 | | | | 85 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | STXBP2 CL E G H | 6813 | 11445 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040282 - Frequent | | | 70 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | STXBP2 CL E G H | 6813 | 11445 | OMIM:613101 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5 | | | | 70 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SUMF1 CL E G H | 285362 | 20376 | OMIM:272200 | Multiple sulfatase deficiency | . | | | 80 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SUMF1 CL E G H | 285362 | 20376 | ORPHA:585 | Multiple sulfatase deficiency | HP:0040281 - Very frequent | | | 80 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | SYK CL E G H | 6850 | 11491 | OMIM:619381 | IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82 | | | | 1 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | TALDO1 CL E G H | 6888 | 11559 | ORPHA:101028 | Transaldolase deficiency | | | | 34 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | TALDO1 CL E G H | 6888 | 11559 | OMIM:606003 | Transaldolase deficiency | . | | | 34 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | TBX1 CL E G H | 6899 | 11592 | OMIM:188400 | Digeorge syndrome | | | | 32 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | TBXAS1 CL E G H | 6916 | 11609 | ORPHA:1802 | Ghosal hematodiaphyseal dysplasia | HP:0040283 - Occasional | | | 16 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | TCF3 CL E G H | 6929 | 11633 | OMIM:619824 | AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B | | | | 2 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | TCF4 CL E G H | 6925 | 11634 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040282 - Frequent | | | 241 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | HP:0040281 - Very frequent | | | 82 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:210110 | Intermediate osteopetrosis | | | | 82 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | TCIRG1 CL E G H | 10312 | 11647 | OMIM:259700 | Osteopetrosis, autosomal recessive 1 | | | | 82 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | TERC CL E G H | 7012 | 11727 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 48 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 238 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:75564 | Acquired idiopathic sideroblastic anemia | HP:0040283 - Occasional | | | 3 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:98850 | Aggressive systemic mastocytosis | | | | 3 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:3318 | Essential thrombocythemia | HP:0040282 - Frequent | | | 3 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | TET2 CL E G H | 54790 | 25941 | OMIM:619126 | IMMUNODEFICIENCY 75; IMD75 | | | | 3 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:729 | Polycythemia vera | HP:0040281 - Very frequent | | | 3 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:824 | Primary myelofibrosis | HP:0040282 - Frequent | | | 3 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040283 - Occasional | | | 3 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | TFE3 CL E G H | 7030 | 11752 | OMIM:301066 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF | | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | TGFB1 CL E G H | 7040 | 11766 | ORPHA:1328 | Camurati-Engelmann disease | HP:0040283 - Occasional | | | 13 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | TGFB1 CL E G H | 7040 | 11766 | OMIM:219700 | Cystic fibrosis | | | | 13 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | THPO CL E G H | 7066 | 11795 | ORPHA:71493 | Familial thrombocytosis | HP:0040282 - Frequent | | | 23 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | THPO CL E G H | 7066 | 11795 | OMIM:187950 | THROMBOCYTHEMIA 1; THCYT1 | | | | 23 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | TINF2 CL E G H | 26277 | 11824 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 60 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | TLR4 CL E G H | 7099 | 11850 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 3 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | TLR8 CL E G H | 51311 | 15632 | OMIM:301078 | IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98 | | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:216360 | Coach syndrome 1 | . | | | 166 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040283 - Occasional | | | 166 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:84081 | Senior-Boichis syndrome | | | | 166 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | TNFRSF11A CL E G H | 8792 | 11908 | OMIM:612301 | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7 | | | | 72 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | TNFRSF13B CL E G H | 23495 | 18153 | ORPHA:1572 | Common variable immunodeficiency | HP:0040282 - Frequent | | | 32 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | TNFRSF13B CL E G H | 23495 | 18153 | OMIM:240500 | Immunodeficiency, common variable, 2 | . | | | 32 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | TNFRSF13C CL E G H | 115650 | 17755 | ORPHA:1572 | Common variable immunodeficiency | HP:0040282 - Frequent | | | 12 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | TNFRSF13C CL E G H | 115650 | 17755 | OMIM:240500 | Immunodeficiency, common variable, 2 | . | | | 12 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | TNFRSF1A CL E G H | 7132 | 11916 | ORPHA:32960 | Tumor necrosis factor receptor 1 associated periodic syndrome | HP:0040282 - Frequent | | | 131 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | TNFRSF1B CL E G H | 7133 | 11917 | ORPHA:2584 | Classic mycosis fungoides | HP:0040283 - Occasional | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | TNFRSF1B CL E G H | 7133 | 11917 | ORPHA:3162 | Sézary syndrome | HP:0040282 - Frequent | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | TNFRSF4 CL E G H | 7293 | 11918 | OMIM:615593 | Immunodeficiency 16 | | | | 2 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | TNFSF11 CL E G H | 8600 | 11926 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | HP:0040281 - Very frequent | | | 44 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | TNFSF11 CL E G H | 8600 | 11926 | OMIM:259710 | Osteopetrosis, autosomal recessive 2 | | | | 44 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | TNFSF12 CL E G H | 8742 | 11927 | ORPHA:1572 | Common variable immunodeficiency | HP:0040282 - Frequent | | | 1 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | TOM1 CL E G H | 10043 | 11982 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:3318 | Essential thrombocythemia | HP:0040282 - Frequent | | | 911 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 911 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | TPI1 CL E G H | 7167 | 12009 | OMIM:615512 | Triosephosphate isomerase deficiency | . | | | 28 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | TPP2 CL E G H | 7174 | 12016 | ORPHA:444463 | Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome | HP:0040282 - Frequent | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | TPP2 CL E G H | 7174 | 12016 | OMIM:619220 | IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78 | | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | TREX1 CL E G H | 11277 | 12269 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 56 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | TREX1 CL E G H | 11277 | 12269 | OMIM:225750 | Aicardi-Goutieres syndrome 1 | HP:0040283 - Occasional | | | 56 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | TRNT1 CL E G H | 51095 | 17341 | OMIM:616084 | SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD | | | | 28 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | TRPV6 CL E G H | 55503 | 14006 | ORPHA:417 | Neonatal severe primary hyperparathyroidism | HP:0040281 - Very frequent | | | 4 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | TULP3 CL E G H | 7289 | 12425 | OMIM:619902 | | | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | TYMS CL E G H | 7298 | 12441 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 1 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | UBAC2 CL E G H | 337867 | 20486 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | UMPS CL E G H | 7372 | 12563 | ORPHA:30 | Hereditary orotic aciduria | HP:0040282 - Frequent | | | 135 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | UNC13D CL E G H | 201294 | 23147 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040282 - Frequent | | | 116 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | UNC13D CL E G H | 201294 | 23147 | OMIM:608898 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3 | | | | 116 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | UROD CL E G H | 7389 | 12591 | ORPHA:95159 | Hepatoerythropoietic porphyria | HP:0040283 - Occasional | | | 31 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | UROS CL E G H | 7390 | 12592 | ORPHA:79277 | Congenital erythropoietic porphyria | HP:0040283 - Occasional | | | 41 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | UROS CL E G H | 7390 | 12592 | OMIM:263700 | Porphyria, congenital erythropoietic | . | | | 41 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | USB1 CL E G H | 79650 | 25792 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 8 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | USB1 CL E G H | 79650 | 25792 | OMIM:604173 | Poikiloderma with neutropenia | | | | 8 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | USP53 CL E G H | 54532 | 29255 | OMIM:619658 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS; PFIC7 | | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | HP:0040283 - Occasional | | | 130 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | VPS33A CL E G H | 65082 | 18179 | ORPHA:505248 | Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders | | | | 1 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | VPS33A CL E G H | 65082 | 18179 | OMIM:617303 | Mucopolysaccharidosis-Plus syndrome | | | | 1 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | VPS33B CL E G H | 26276 | 12712 | OMIM:620010 | | | | | 63 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | VPS45 CL E G H | 11311 | 14579 | OMIM:615285 | Neutropenia, severe congenital, 5, autosomal recessive | . | | | 7 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | WDR1 CL E G H | 9948 | 12754 | OMIM:150550 | Periodic fever, immunodeficiency, and thrombocytopenia syndrome | | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | WDR35 CL E G H | 57539 | 29250 | OMIM:613610 | Cranioectodermal dysplasia 2 | . | | | 136 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | WRAP53 CL E G H | 55135 | 25522 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 40 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | XIAP CL E G H | 331 | 592 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 81 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | XIAP CL E G H | 331 | 592 | OMIM:300635 | Lymphoproliferative syndrome, X-linked, 2 | | | | 81 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | XK CL E G H | 7504 | 12811 | OMIM:300842 | Mcleod syndrome | | | | 8 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | YARS1 CL E G H | 8565 | 12840 | OMIM:619418 | NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2 | | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | | | | 46 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | ZAP70 CL E G H | 7535 | 12858 | OMIM:269840 | SELECTIVE T-CELL DEFECT | . | | | 46 | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | ZFYVE19 CL E G H | 84936 | 20758 | OMIM:619849 | | | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0001744 | HP:0001744 | Splenomegaly | 0 | ZNFX1 CL E G H | 57169 | 29271 | OMIM:619644 | IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91 | | | | | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | ABCA1 CL E G H | 19 | 29 | ORPHA:31150 | Tangier disease | HP:0040282 - Frequent | | | 191 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | ADA2 CL E G H | 51816 | 1839 | OMIM:615688 | Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome | | | | 22 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 116 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | ALG9 CL E G H | 79796 | 15672 | OMIM:608776 | Congenital disorder of glycosylation, type Il | | | | 93 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | HP:0040283 - Occasional | | | 404 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | ANKRD55 CL E G H | 79722 | 25681 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040284 - Very rare | | | | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | ASAH1 CL E G H | 427 | 735 | ORPHA:333 | Farber disease | HP:0040283 - Occasional | | | 78 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040282 - Frequent | | | 145 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | BRCA1 CL E G H | 672 | 1100 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 5769 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | BRCA2 CL E G H | 675 | 1101 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 7642 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | CA2 CL E G H | 760 | 1373 | OMIM:259730 | Osteopetrosis, autosomal recessive 3 | . | | | 29 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | CALR CL E G H | 811 | 1455 | ORPHA:824 | Primary myelofibrosis | HP:0040282 - Frequent | | | 1 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | CAV1 CL E G H | 857 | 1527 | OMIM:612526 | Lipodystrophy, congenital generalized, type 3 | | | | 11 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | CBL CL E G H | 867 | 1541 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040282 - Frequent | | | 317 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | CCDC115 CL E G H | 84317 | 28178 | OMIM:616828 | Congenital disorder of glycosylation, type IIO | | | | 3 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | CD247 CL E G H | 919 | 1677 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040284 - Very rare | | | 8 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | CD247 CL E G H | 919 | 1677 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | HP:0040283 - Occasional | | | 8 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | CD27 CL E G H | 939 | 11922 | OMIM:615122 | Lymphoproliferative syndrome 2 | | | | 4 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | CD3D CL E G H | 915 | 1673 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | HP:0040283 - Occasional | | | 18 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | CD3E CL E G H | 916 | 1674 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | HP:0040283 - Occasional | | | 24 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | CD70 CL E G H | 970 | 11937 | OMIM:618261 | LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3 | | | | | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 289 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | CFTR CL E G H | 1080 | 1884 | OMIM:219700 | Cystic fibrosis | | | | 1371 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | CLCN7 CL E G H | 1186 | 2025 | ORPHA:210110 | Intermediate osteopetrosis | HP:0040284 - Very rare | | | 102 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | COG1 CL E G H | 9382 | 6545 | ORPHA:263508 | COG1-CDG | HP:0040283 - Occasional | | | 52 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | COG4 CL E G H | 25839 | 18620 | ORPHA:263501 | COG4-CDG | HP:0040282 - Frequent | | | 67 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | COG5 CL E G H | 10466 | 14857 | ORPHA:263487 | COG5-CDG | HP:0040283 - Occasional | | | 79 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | COG7 CL E G H | 91949 | 18622 | ORPHA:79333 | COG7-CDG | | | | 64 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | CSF3R CL E G H | 1441 | 2439 | OMIM:162830 | Neutrophilia, hereditary | . | | | 34 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | CTSA CL E G H | 5476 | 9251 | OMIM:256540 | Galactosialidosis | HP:0040283 - Occasional | | | 51 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | CTSK CL E G H | 1513 | 2536 | ORPHA:763 | Pycnodysostosis | | | | 39 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | CYBC1 CL E G H | 79415 | 28672 | OMIM:618935 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5 | | | | | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | CYP7B1 CL E G H | 9420 | 2652 | ORPHA:79302 | Congenital bile acid synthesis defect type 3 | | | | 57 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | DCDC2 CL E G H | 51473 | 18141 | ORPHA:84081 | Senior-Boichis syndrome | | | | 8 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | DDRGK1 CL E G H | 65992 | 16110 | ORPHA:93352 | Spondyloepimetaphyseal dysplasia, Shohat type | HP:0040283 - Occasional | | | | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 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:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | DNASE2 CL E G H | 1777 | 2960 | OMIM:619858 | | | | | | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | DPM1 CL E G H | 8813 | 3005 | ORPHA:79322 | DPM1-CDG | HP:0040283 - Occasional | | | 27 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | DZIP1L CL E G H | 199221 | 26551 | ORPHA:731 | Autosomal recessive polycystic kidney disease | HP:0040283 - Occasional | | | 4 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | DZIP1L CL E G H | 199221 | 26551 | OMIM:617610 | Polycystic kidney disease 5 | | | | 4 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | FARSA CL E G H | 2193 | 3592 | OMIM:619013 | RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2 | | | | | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | FCGR2A CL E G H | 2212 | 3616 | OMIM:219700 | Cystic fibrosis | | | | 6 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | FERMT3 CL E G H | 83706 | 23151 | OMIM:612840 | Leukocyte adhesion deficiency, type III | | | | 23 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | FGFR2 CL E G H | 2263 | 3689 | OMIM:614592 | Bent bone dysplasia syndrome | HP:0040283 - Occasional | | | 175 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:313855 | FGFR2-related bent bone dysplasia | HP:0040283 - Occasional | | | 175 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | G6PC3 CL E G H | 92579 | 24861 | OMIM:612541 | Neutropenia, severe congenital, 4, autosomal recessive | | | | 37 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | GALK1 CL E G H | 2584 | 4118 | ORPHA:79237 | Galactokinase deficiency | HP:0040283 - Occasional | | | 23 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | GBA1 CL E G H | 2629 | 4177 | OMIM:608013 | Gaucher disease, perinatal lethal | | | | | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | GBA1 CL E G H | 2629 | 4177 | ORPHA:2072 | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | HP:0040282 - Frequent | | | | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | GBE1 CL E G H | 2632 | 4180 | OMIM:232500 | Glycogen storage disease IV | . | | | 86 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | GCLC CL E G H | 2729 | 4311 | ORPHA:33574 | Glutamate-cysteine ligase deficiency | HP:0040283 - Occasional | | | 2 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | GLB1 CL E G H | 2720 | 4298 | ORPHA:79255 | GM1 gangliosidosis type 1 | HP:0040281 - Very frequent | | | 120 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | GLRX5 CL E G H | 51218 | 20134 | OMIM:616860 | Anemia, sideroblastic, 3, pyridoxine-refractory | | | | 17 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | GNE CL E G H | 10020 | 23657 | ORPHA:3166 | Sialuria | HP:0040281 - Very frequent | | | 173 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | GNPTAB CL E G H | 79158 | 29670 | ORPHA:576 | Mucolipidosis type II | HP:0040283 - Occasional | | | 240 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | GPR35 CL E G H | 2859 | 4492 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040282 - Frequent | | | 2 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | HAVCR2 CL E G H | 84868 | 18437 | ORPHA:86884 | Subcutaneous panniculitis-like T-cell lymphoma | HP:0040282 - Frequent | | | | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | HBB CL E G H | 3043 | 4827 | ORPHA:231222 | Beta-thalassemia intermedia | HP:0040283 - Occasional | | | 580 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | HBB CL E G H | 3043 | 4827 | ORPHA:231214 | Beta-thalassemia major | HP:0040283 - Occasional | | | 580 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | HBB CL E G H | 3043 | 4827 | ORPHA:231226 | Dominant beta-thalassemia | HP:0040283 - Occasional | | | 580 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | HEXB CL E G H | 3074 | 4879 | OMIM:268800 | Sandhoff disease | . | | | 80 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | HEXB CL E G H | 3074 | 4879 | ORPHA:309155 | Sandhoff disease, infantile form | | | | 80 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | IARS1 CL E G H | 3376 | 5330 | ORPHA:541423 | Growth delay-intellectual disability-hepatopathy syndrome | HP:0040283 - Occasional | | | | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | IDS CL E G H | 3423 | 5389 | ORPHA:217093 | Mucopolysaccharidosis type 2, attenuated form | HP:0040283 - Occasional | | | 86 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | IDS CL E G H | 3423 | 5389 | ORPHA:217085 | Mucopolysaccharidosis type 2, severe form | HP:0040283 - Occasional | | | 86 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | IDS CL E G H | 3423 | 5389 | OMIM:309900 | Mucopolysaccharidosis, type II | | | | 86 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | IDUA CL E G H | 3425 | 5391 | OMIM:607014 | Hurler syndrome | . | | | 115 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | IFIH1 CL E G H | 64135 | 18873 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 28 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | IFNG CL E G H | 3458 | 5438 | OMIM:618963 | IMMUNODEFICIENCY 69; IMD69 | | | | 23 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | IFNGR1 CL E G H | 3459 | 5439 | OMIM:209950 | Immunodeficiency 27A, mycobacteriosis, AR | | | | 60 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | IKBKG CL E G H | 8517 | 5961 | OMIM:301081 | | | | | 52 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | IL2RA CL E G H | 3559 | 6008 | OMIM:606367 | IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41 | | | | 65 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | IL2RA CL E G H | 3559 | 6008 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040284 - Very rare | | | 65 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | IL2RB CL E G H | 3560 | 6009 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040284 - Very rare | | | | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | IL6ST CL E G H | 3572 | 6021 | OMIM:619750 | IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94 | | | | | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | IL7R CL E G H | 3575 | 6024 | ORPHA:169154 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | HP:0040283 - Occasional | | | 94 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | ITCH CL E G H | 83737 | 13890 | ORPHA:228426 | Syndromic multisystem autoimmune disease due to Itch deficiency | HP:0040281 - Very frequent | | | 3 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | JAK1 CL E G H | 3716 | 6190 | OMIM:618999 | AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE | | | | 12 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | JAK2 CL E G H | 3717 | 6192 | ORPHA:824 | Primary myelofibrosis | HP:0040282 - Frequent | | | 57 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | JAK3 CL E G H | 3718 | 6193 | ORPHA:35078 | T-B+ severe combined immunodeficiency due to JAK3 deficiency | HP:0040284 - Very rare | | | 140 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | KIF3B CL E G H | 9371 | 6320 | OMIM:618955 | RETINITIS PIGMENTOSA 89; RP89 | | | | | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | KLF1 CL E G H | 10661 | 6345 | OMIM:613673 | Anemia, dyserythropoietic congenital, type IV | | | | 42 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | KPTN CL E G H | 11133 | 6404 | ORPHA:397612 | Macrocephaly-developmental delay syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | KRAS CL E G H | 3845 | 6407 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 196 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | LBR CL E G H | 3930 | 6518 | OMIM:215140 | Greenberg dysplasia | | | | 70 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | LIPA CL E G H | 3988 | 6617 | OMIM:278000 | Lysosomal acid lipase deficiency | | | | 73 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | LPIN2 CL E G H | 9663 | 14450 | OMIM:609628 | MAJEED SYNDROME; MJDS | | | | 186 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | LPL CL E G H | 4023 | 6677 | OMIM:238600 | Type I hyperlipoproteinemia | . | | | 106 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | LSM11 CL E G H | 134353 | 30860 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | HP:0040282 - Frequent | | | 239 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309288 | Alpha-mannosidosis, adult form | HP:0040283 - Occasional | | | 136 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309282 | Alpha-mannosidosis, infantile form | HP:0040282 - Frequent | | | 136 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | MED12 CL E G H | 9968 | 11957 | OMIM:301068 | HARDIKAR SYNDROME; HDKR | | | | 228 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 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:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | MOGS CL E G H | 7841 | 24862 | ORPHA:79330 | MOGS-CDG | HP:0040283 - Occasional | | | 37 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | MPL CL E G H | 4352 | 7217 | ORPHA:824 | Primary myelofibrosis | HP:0040282 - Frequent | | | 97 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | MST1 CL E G H | 4485 | 7380 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040282 - Frequent | | | 1 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | MVK CL E G H | 4598 | 7530 | OMIM:260920 | Hyper-Igd syndrome | | | | 150 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | MVK CL E G H | 4598 | 7530 | OMIM:610377 | Mevalonic aciduria | | | | 150 | | |
HP:0001744 | HP:0006268 | Fluctuating splenomegaly | 1 | MVK CL E G H | 4598 | 7530 | OMIM:610377 | Mevalonic aciduria | . | | | 150 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | NCKAP1L CL E G H | 3071 | 4862 | OMIM:618982 | IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72 | | | | | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | NEU1 CL E G H | 4758 | 7758 | ORPHA:93400 | Congenital sialidosis type 2 | HP:0040282 - Frequent | | | 43 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | NEU1 CL E G H | 4758 | 7758 | ORPHA:93399 | Juvenile sialidosis type 2 | HP:0040283 - Occasional | | | 43 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | NHLRC2 CL E G H | 374354 | 24731 | OMIM:618278 | Fibrosis, neurodegeneration, and cerebral angiomatosis | | | | | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | NLRP3 CL E G H | 114548 | 16400 | OMIM:607115 | CINCA SYNDROME; CINCA | | | | 217 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | NPHP3 CL E G H | 27031 | 7907 | OMIM:267010 | MECKEL SYNDROME, TYPE 7; MKS7 | | | | 157 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | OSTM1 CL E G H | 28962 | 21652 | OMIM:259720 | Osteopetrosis, autosomal recessive 5 | | | | 73 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | PALB2 CL E G H | 79728 | 26144 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 1349 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | PALLD CL E G H | 23022 | 17068 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 192 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | PEX2 CL E G H | 5828 | 9717 | OMIM:614866 | Peroxisome biogenesis disorder 5A (Zellweger) | . | | | 82 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:731 | Autosomal recessive polycystic kidney disease | HP:0040283 - Occasional | | | 563 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | PLEKHM1 CL E G H | 9842 | 29017 | ORPHA:210110 | Intermediate osteopetrosis | HP:0040284 - Very rare | | | 2 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | PRF1 CL E G H | 5551 | 9360 | OMIM:603553 | Hemophagocytic lymphohistiocytosis, familial, 2 | | | | 58 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | PRKCD CL E G H | 5580 | 9399 | OMIM:615559 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 | | | | 10 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | PSTPIP1 CL E G H | 9051 | 9580 | OMIM:604416 | Pyogenic sterile arthritis, pyoderma gangrenosum, and acne | | | | 96 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | PTPN2 CL E G H | 5771 | 9650 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040284 - Very rare | | | | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040284 - Very rare | | | 3 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | PTPRC CL E G H | 5788 | 9666 | OMIM:619924 | | | | | 25 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | RAB27A CL E G H | 5873 | 9766 | OMIM:607624 | Griscelli syndrome, type 2 | | | | 67 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | RABL3 CL E G H | 285282 | 18072 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | RAC2 CL E G H | 5880 | 9802 | OMIM:618986 | IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B | | | | 9 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | RAG1 CL E G H | 5896 | 9831 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | HP:0040283 - Occasional | | | 127 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | RAG2 CL E G H | 5897 | 9832 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | HP:0040283 - Occasional | | | 50 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | RASGRP1 CL E G H | 10125 | 9878 | OMIM:618534 | IMMUNODEFICIENCY 64; IMD64 | | | | | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | RBM8A CL E G H | 9939 | 9905 | OMIM:274000 | Thrombocytopenia-absent radius syndrome | | | | 10 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | RHAG CL E G H | 6005 | 10006 | ORPHA:71275 | Rh deficiency syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | RHCE CL E G H | 6006 | 10008 | ORPHA:71275 | Rh deficiency syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | RHD CL E G H | 6007 | 10009 | ORPHA:71275 | Rh deficiency syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | RNASEH2A CL E G H | 10535 | 18518 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | RNASEH2A CL E G H | 10535 | 18518 | OMIM:610333 | Aicardi-Goutieres syndrome 4 | | | | 33 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | RNASEH2B CL E G H | 79621 | 25671 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 34 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | RNASEH2C CL E G H | 84153 | 24116 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 60 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | RNASEH2C CL E G H | 84153 | 24116 | OMIM:610329 | Aicardi-Goutieres syndrome 3 | | | | 60 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | HP:0040282 - Frequent | | | 15 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | RNU7-1 CL E G H | 100147744 | 34033 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | RNU7-1 CL E G H | 100147744 | 34033 | OMIM:619487 | AICARDI-GOUTIERES SYNDROME 9; AGS9 | | | | | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 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:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | RUNX1 CL E G H | 861 | 10471 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040282 - Frequent | | | 181 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | SAMHD1 CL E G H | 25939 | 15925 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 55 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | SC5D CL E G H | 6309 | 10547 | OMIM:607330 | LATHOSTEROLOSIS | | | | 80 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | 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:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | SEMA4D CL E G H | 10507 | 10732 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040282 - Frequent | | | | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | SLC25A13 CL E G H | 10165 | 10983 | ORPHA:247598 | Neonatal intrahepatic cholestasis due to citrin deficiency | HP:0040282 - Frequent | | | 82 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | SLC29A3 CL E G H | 55315 | 23096 | ORPHA:168569 | H syndrome | HP:0040282 - Frequent | | | 68 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | SLC29A3 CL E G H | 55315 | 23096 | OMIM:602782 | Histiocytosis-lymphadenopathy plus syndrome | | | | 68 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:168577 | Hereditary cryohydrocytosis with reduced stomatin | HP:0040282 - Frequent | | | 255 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | SLC4A1 CL E G H | 6521 | 11027 | OMIM:611590 | Renal tubular acidosis, distal, with hemolytic anemia | . | | | 109 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | SLC7A7 CL E G H | 9056 | 11065 | ORPHA:470 | Lysinuric protein intolerance | HP:0040282 - Frequent | | | 104 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 504 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | SNX14 CL E G H | 57231 | 14977 | ORPHA:397709 | Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome | HP:0040283 - Occasional | | | 14 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | SOX10 CL E G H | 6663 | 11190 | OMIM:609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | | | | 61 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | SP110 CL E G H | 3431 | 5401 | ORPHA:79124 | Hepatic veno-occlusive disease-immunodeficiency syndrome | HP:0040282 - Frequent | | | 49 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040282 - Frequent | | | 1 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | STAT1 CL E G H | 6772 | 11362 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | HP:0040282 - Frequent | | | 89 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | STAT3 CL E G H | 6774 | 11364 | OMIM:615952 | AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1 | | | | 110 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | STAT4 CL E G H | 6775 | 11365 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040284 - Very rare | | | 2 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | STEAP3 CL E G H | 55240 | 24592 | ORPHA:300298 | Severe congenital hypochromic anemia with ringed sideroblasts | HP:0040283 - Occasional | | | 1 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | STXBP2 CL E G H | 6813 | 11445 | OMIM:613101 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5 | | | | 70 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | TALDO1 CL E G H | 6888 | 11559 | ORPHA:101028 | Transaldolase deficiency | HP:0040281 - Very frequent | | | 34 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | TALDO1 CL E G H | 6888 | 11559 | OMIM:606003 | Transaldolase deficiency | | | | 34 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | TCF4 CL E G H | 6925 | 11634 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040282 - Frequent | | | 241 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:210110 | Intermediate osteopetrosis | HP:0040284 - Very rare | | | 82 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | TET2 CL E G H | 54790 | 25941 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040282 - Frequent | | | 3 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | TET2 CL E G H | 54790 | 25941 | OMIM:619126 | IMMUNODEFICIENCY 75; IMD75 | | | | 3 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | TET2 CL E G H | 54790 | 25941 | ORPHA:824 | Primary myelofibrosis | HP:0040282 - Frequent | | | 3 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | TFE3 CL E G H | 7030 | 11752 | OMIM:301066 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF | | | | | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | TGFB1 CL E G H | 7040 | 11766 | OMIM:219700 | Cystic fibrosis | | | | 13 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:84081 | Senior-Boichis syndrome | | | | 166 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | TNFSF11 CL E G H | 8600 | 11926 | OMIM:259710 | Osteopetrosis, autosomal recessive 2 | . | | | 44 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | TOM1 CL E G H | 10043 | 11982 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | HP:0040282 - Frequent | | | | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | TP53 CL E G H | 7157 | 11998 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 911 | | |
HP:0001744 | HP:0006268 | Fluctuating splenomegaly | 1 | TPP2 CL E G H | 7174 | 12016 | OMIM:619220 | IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78 | | | | | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | TREX1 CL E G H | 11277 | 12269 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 56 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | TULP3 CL E G H | 7289 | 12425 | OMIM:619902 | | | | | | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | UNC13D CL E G H | 201294 | 23147 | OMIM:608898 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3 | | | | 116 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | 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:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | HP:0040283 - Occasional | | | 46 | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0001744 | HP:0001433 | Hepatosplenomegaly | 1 | ZNFX1 CL E G H | 57169 | 29271 | OMIM:619644 | IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91 | | | | | | |