Human Phenotype Ontology 
Grandparent Node:
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Abnormality of abdomen morphology (HP:0001438)help
Parent Node:
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Abnormal spleen morphology (HP:0025408)help
Parent Node:
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Visceromegaly (HP:0003271)help
..Starting node
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Splenomegaly (HP:0001744)help
Term ID: 1744
Name: Splenomegaly
Synonym: Increased spleen size
Definition: Abnormal increased size of the spleen.
Comments:
Reference: HP:0001744
Genes and Diseases:
 
       Child Nodes:
........expandFluctuating splenomegaly (HP:0006268) help

 Sister Nodes: 
..expandHepatomegaly (HP:0002240) help
..expandHepatosplenomegaly (HP:0001433) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001744HP:0001744Splenomegaly0ABCA1 CL E G H19425ORPHA124035229600046
HP:0001744HP:0001744Splenomegaly0ABCA1 CL E G H19205400Tangier disease205400C0039292OMIM124035229600046
HP:0001744HP:0001744Splenomegaly0ABCB11 CL E G H8647601847Progressive familial intrahepatic cholestasis 2601847C3489789OMIM133146042603201
HP:0001744HP:0001744Splenomegaly0ABCB4 CL E G H5244602347Progressive familial intrahepatic cholestasis 3602347C1865643OMIM124433445171060
HP:0001744HP:0001744Splenomegaly0ABCD3 CL E G H5825616278Bile acid synthesis defect, congenital, 5616278C4225390OMIM172667170995
HP:0001744HP:0001744Splenomegaly0ABCG5 CL E G H64240210250Sitosterolemia210250C0342907OMIM14720113886605459
HP:0001744HP:0001744Splenomegaly0ABCG8 CL E G H64241210250Sitosterolemia210250C0342907OMIM15129313887605460
HP:0001744HP:0001744Splenomegaly0ABL1 CL E G H25521ORPHA1512776189980
HP:0001744HP:0001744Splenomegaly0ADA CL E G H10039041ORPHA196215186608958
HP:0001744HP:0001744Splenomegaly0ADA CL E G H100102700Severe combined immunodeficiency due to ADA deficiency102700C1863236OMIM196215186608958
HP:0001744HP:0001744Splenomegaly0ADAMTS3 CL E G H95082136Epidermal nevus vitamin D resistant ricketsORPHA1438219605011
HP:0001744HP:0001744Splenomegaly0AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM143189325603100
HP:0001744HP:0001744Splenomegaly0AKR1D1 CL E G H671879303ORPHA115179388604741
HP:0001744HP:0001744Splenomegaly0AKR1D1 CL E G H6718235555Bile acid synthesis defect, congenital, 2235555C1856127OMIM115179388604741
HP:0001744HP:0001744Splenomegaly0AKT1 CL E G H207176920Proteus syndrome176920C0085261OMIM112269391164730
HP:0001744HP:0001744Splenomegaly0ALDOA CL E G H226611881HNSHA due to aldolase A deficiency611881C0272066OMIM18306414103850
HP:0001744HP:0001744Splenomegaly0ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM14416818294605907
HP:0001744HP:0001744Splenomegaly0ANK1 CL E G H286182900Spherocytosis type 1182900C2674218OMIM1111388492612641
HP:0001744HP:0001744Splenomegaly0AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM135238566603401
HP:0001744HP:0001744Splenomegaly0AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1490568607246
HP:0001744HP:0001744Splenomegaly0APOA1 CL E G H335425ORPHA17776600107680
HP:0001744HP:0001744Splenomegaly0APOA1 CL E G H335105200Familial visceral amyloidosis, Ostertag type105200C0268389OMIM17776600107680
HP:0001744HP:0001744Splenomegaly0APOC2 CL E G H344207750Apolipoprotein C2 deficiency207750C1720779OMIM12445609608083
HP:0001744HP:0001744Splenomegaly0APOE CL E G H348158029ORPHA16462613107741
HP:0001744HP:0001744Splenomegaly0APOE CL E G H348269600Sea-blue histiocyte syndrome269600C0036489OMIM16462613107741
HP:0001744HP:0001744Splenomegaly0ARSB CL E G H411253200Mucopolysaccharidosis type VI253200C0026709OMIM1207446714611542
HP:0001744HP:0001744Splenomegaly0ASAH1 CL E G H427228000Farber disease228000C0268255OMIM171306735613468
HP:0001744HP:0001744Splenomegaly0ATM CL E G H47252416ORPHA113248934795607585
HP:0001744HP:0001744Splenomegaly0ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM15233868300197
HP:0001744HP:0001744Splenomegaly0ATP7B CL E G H540905ORPHA1938958870606882
HP:0001744HP:0001744Splenomegaly0ATP8B1 CL E G H5205211600Progressive intrahepatic cholestasis211600C0268312OMIM11403613706602397
HP:0001744HP:0001744Splenomegaly0B2M CL E G H567105200Familial visceral amyloidosis, Ostertag type105200C0268389OMIM1424914109700
HP:0001744HP:0001744Splenomegaly0BCL2 CL E G H596545Adducted thumbs Dundar typeORPHA1386990151430
HP:0001744HP:0001744Splenomegaly0BCL6 CL E G H604545Adducted thumbs Dundar typeORPHA11581001109565
HP:0001744HP:0001744Splenomegaly0BCR CL E G H613521ORPHA122111014151410
HP:0001744HP:0001744Splenomegaly0BPGM CL E G H669222800Deficiency of bisphosphoglycerate mutase222800C1291620OMIM111371093613896
HP:0001744HP:0001744Splenomegaly0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM1684901097164757
HP:0001744HP:0001744Splenomegaly0BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM15026315832606158
HP:0001744HP:0001744Splenomegaly0BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM12483711122609019
HP:0001744HP:0001744Splenomegaly0C15orf41 CL E G H84529615631ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib615631C3810185OMIM1626929615626
HP:0001744HP:0001744Splenomegaly0CA2 CL E G H7602785ORPHA131761373611492
HP:0001744HP:0001744Splenomegaly0CALR CL E G H8113318ORPHA15281455109091
HP:0001744HP:0001744Splenomegaly0CALR CL E G H811187950Essential thrombocythemia187950C0040028OMIM15281455109091
HP:0001744HP:0001744Splenomegaly0CALR CL E G H811254450Myelofibrosis254450C0001815OMIM15281455109091
HP:0001744HP:0001744Splenomegaly0CARD11 CL E G H84433616452B-cell expansion with NFKB and T-cell anergy616452CN231446OMIM11430916393607210
HP:0001744HP:0001744Splenomegaly0CASP10 CL E G H843603909Autoimmune lymphoproliferative syndrome, type 2A603909C1858968OMIM192361500601762
HP:0001744HP:0001744Splenomegaly0CASP8 CL E G H841607271Caspase-8 deficiency607271C1846545OMIM1121391509601763
HP:0001744HP:0001744Splenomegaly0CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA14109551514601199
HP:0001744HP:0001744Splenomegaly0CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM14109551514601199
HP:0001744HP:0001744Splenomegaly0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM115949688603198
HP:0001744HP:0001744Splenomegaly0CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM19658429253612013
HP:0001744HP:0001744Splenomegaly0CCBE1 CL E G H1473722136Epidermal nevus vitamin D resistant ricketsORPHA11330529426612753
HP:0001744HP:0001744Splenomegaly0CCDC115 CL E G H84317616828CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo616828C4225191OMIM154828178613734
HP:0001744HP:0001744Splenomegaly0CCND1 CL E G H59552416ORPHA17101582168461
HP:0001744HP:0001744Splenomegaly0CD19 CL E G H9301572ORPHA1101961633107265
HP:0001744HP:0001744Splenomegaly0CD19 CL E G H930240500Common variable immunodeficiency 2240500C3150354OMIM1101961633107265
HP:0001744HP:0001744Splenomegaly0CD27 CL E G H939615122Lymphoproliferative syndrome 2615122C3554540OMIM189611922186711
HP:0001744HP:0001744Splenomegaly0CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA1271653186760
HP:0001744HP:0001744Splenomegaly0CD40LG CL E G H959308230Immunodeficiency with hyper IgM type 1308230C0398689OMIM124127811935300386
HP:0001744HP:0001744Splenomegaly0CD81 CL E G H9751572ORPHA12491701186845
HP:0001744HP:0001744Splenomegaly0CDAN1 CL E G H146059224120Congenital dyserythropoietic anemia, type I224120C0271933OMIM1691921713607465
HP:0001744HP:0001744Splenomegaly0CHD7 CL E G H5563639041ORPHA1884126620626608892
HP:0001744HP:0001744Splenomegaly0CLCN7 CL E G H1186667ORPHA11002682025602727
HP:0001744HP:0001744Splenomegaly0CLDN1 CL E G H907659303ORPHA14732032603718
HP:0001744HP:0001744Splenomegaly0COX4I2 CL E G H84701612714Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis612714C2675184OMIM113316232607976
HP:0001744HP:0001744Splenomegaly0CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM1731362321612732
HP:0001744HP:0001744Splenomegaly0CR2 CL E G H13801572ORPHA1192332336120650
HP:0001744HP:0001744Splenomegaly0CR2 CL E G H1380240500Common variable immunodeficiency 2240500C3150354OMIM1192332336120650
HP:0001744HP:0001744Splenomegaly0CTLA4 CL E G H1493616100Autoimmune lymphoproliferatiVe syndrome, type V616100C4015214OMIM1721142505123890
HP:0001744HP:0001744Splenomegaly0CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA1721142505123890
HP:0001744HP:0001744Splenomegaly0CTNS CL E G H1497219800Nephropathic cystinosis219800C0010690OMIM11604182518606272
HP:0001744HP:0001744Splenomegaly0CYBA CL E G H1535233690Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative233690C1856255OMIM1761792577608508
HP:0001744HP:0001744Splenomegaly0CYBB CL E G H1536306400Chronic granulomatous disease, X-linked306400C1844376OMIM17823762578300481
HP:0001744HP:0001744Splenomegaly0CYP7B1 CL E G H942079302ORPHA1631992652603711
HP:0001744HP:0001744Splenomegaly0CYP7B1 CL E G H9420613812Bile acid synthesis defect, congenital, 3613812C3151147OMIM1631992652603711
HP:0001744HP:0001744Splenomegaly0DCDC2 CL E G H51473616217Nephronophthisis 19616217C4015542OMIM11110618141605755
HP:0001744HP:0001744Splenomegaly0DCDC2 CL E G H51473617394Sclerosing cholangitis, neonatal617394C4479344OMIM11110618141605755
HP:0001744HP:0001744Splenomegaly0DCLRE1C CL E G H6442139041ORPHA19131817642605988
HP:0001744HP:0001744Splenomegaly0DCLRE1C CL E G H64421603554Histiocytic medullary reticulosis603554C1801959OMIM19131817642605988
HP:0001744HP:0001744Splenomegaly0DDRGK1 CL E G H6599293352ORPHA114216110616177
HP:0001744HP:0001744Splenomegaly0DDRGK1 CL E G H65992602557Spondyloepimetaphyseal dysplasia Shohat type602557C1865185OMIM114216110616177
HP:0001744HP:0001744Splenomegaly0DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM1641222858601465
HP:0001744HP:0001744Splenomegaly0DGUOK CL E G H1716617068Portal hypertension, noncirrhotic617068C4310735OMIM1641222858601465
HP:0001744HP:0001744Splenomegaly0DOLK CL E G H2284591131ORPHA11121523406610746
HP:0001744HP:0001744Splenomegaly0DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM191203005603503
HP:0001744HP:0001744Splenomegaly0DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM11417324595617083
HP:0001744HP:0001744Splenomegaly0ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM11404993438609413
HP:0001744HP:0001744Splenomegaly0ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM1701993439609412
HP:0001744HP:0001744Splenomegaly0F5 CL E G H2153131Myeloid sarcomaORPHA11693293542612309
HP:0001744HP:0001744Splenomegaly0FAH CL E G H2184276700Tyrosinemia type I276700C0268490OMIM11022633579613871
HP:0001744HP:0001744Splenomegaly0FAS CL E G H355601859Autoimmune lymphoproliferative syndrome601859C1328840OMIM114216911920134637
HP:0001744HP:0001744Splenomegaly0FASLG CL E G H356601859Autoimmune lymphoproliferative syndrome601859C1328840OMIM1119811936134638
HP:0001744HP:0001744Splenomegaly0FAT4 CL E G H796332136Epidermal nevus vitamin D resistant ricketsORPHA13731723109612411
HP:0001744HP:0001744Splenomegaly0FERMT3 CL E G H83706612840Leukocyte adhesion deficiency, type III612840C2748536OMIM11413723151607901
HP:0001744HP:0001744Splenomegaly0FGA CL E G H2243105200Familial visceral amyloidosis, Ostertag type105200C0268389OMIM11551103661134820
HP:0001744HP:0001744Splenomegaly0FMO3 CL E G H2328602079Trimethylaminuria602079C0342739OMIM1731093771136132
HP:0001744HP:0001744Splenomegaly0FUCA1 CL E G H2517230000Fucosidosis230000C0016788OMIM1341094006612280
HP:0001744HP:0001744Splenomegaly0G6PC3 CL E G H92579612541Severe congenital neutropenia 4, autosomal recessive612541C2675526OMIM14011924861611045
HP:0001744HP:0001744Splenomegaly0GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM158211854065606800
HP:0001744HP:0001744Splenomegaly0GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM1271124116606953
HP:0001744HP:0001744Splenomegaly0GATA1 CL E G H2623231393ORPHA1152354170305371
HP:0001744HP:0001744Splenomegaly0GATA1 CL E G H262379277ORPHA1152354170305371
HP:0001744HP:0001744Splenomegaly0GATA1 CL E G H2623314050Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis314050C1839161OMIM1152354170305371
HP:0001744HP:0001744Splenomegaly0GATA2 CL E G H26243226Lethal chondrodysplasia Seller typeORPHA11515164171137295
HP:0001744HP:0001744Splenomegaly0GBA CL E G H262977260ORPHA14942064177606463
HP:0001744HP:0001744Splenomegaly0GBA CL E G H26292072ORPHA14942064177606463
HP:0001744HP:0001744Splenomegaly0GBA CL E G H262977261ORPHA14942064177606463
HP:0001744HP:0001744Splenomegaly0GBA CL E G H262977259ORPHA14942064177606463
HP:0001744HP:0001744Splenomegaly0GBA CL E G H262985212ORPHA14942064177606463
HP:0001744HP:0001744Splenomegaly0GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14942064177606463
HP:0001744HP:0001744Splenomegaly0GBA CL E G H2629231005Gaucher disease type 3C231005C1856476OMIM14942064177606463
HP:0001744HP:0001744Splenomegaly0GBA CL E G H2629608013Gaucher disease, perinatal lethal608013C1842704OMIM14942064177606463
HP:0001744HP:0001744Splenomegaly0GBA CL E G H2629230800Gaucher's disease, type 1230800C1961835OMIM14942064177606463
HP:0001744HP:0001744Splenomegaly0GBA CL E G H2629231000Subacute neuronopathic Gaucher's disease231000C0268251OMIM14942064177606463
HP:0001744HP:0001744Splenomegaly0GFI1B CL E G H8328721ORPHA112614238604383
HP:0001744HP:0001744Splenomegaly0GLB1 CL E G H2720230500Infantile GM1 gangliosidosis230500C0268271OMIM12313084298611458
HP:0001744HP:0001744Splenomegaly0GLRX5 CL E G H51218616860Sideroblastic anemia 3, pyridoxine-refractory616860C4225155OMIM164720134609588
HP:0001744HP:0001744Splenomegaly0GNE CL E G H10020269921Sialuria269921C0342853OMIM122247523657603824
HP:0001744HP:0001744Splenomegaly0GNPTAB CL E G H79158576ORPHA118846229670607840
HP:0001744HP:0001744Splenomegaly0GNPTAB CL E G H79158252500I cell disease252500C2673377OMIM118846229670607840
HP:0001744HP:0001744Splenomegaly0GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM1251464422607664
HP:0001744HP:0001744Splenomegaly0GP1BA CL E G H2811153670Bernard-Soulier syndrome, type A2, autosomal dominant153670C3277076OMIM177734439606672
HP:0001744HP:0001744Splenomegaly0GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA1985264451300037
HP:0001744HP:0001744Splenomegaly0GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM1985264451300037
HP:0001744HP:0001744Splenomegaly0GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA151964452300168
HP:0001744HP:0001744Splenomegaly0GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM151964452300168
HP:0001744HP:0001744Splenomegaly0GPI CL E G H2821613470Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency613470C3150730OMIM142454458172400
HP:0001744HP:0001744Splenomegaly0GPIHBP1 CL E G H338328615947Hyperlipoproteinemia, type ID615947C4014767OMIM1347524945612757
HP:0001744HP:0001744Splenomegaly0GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA121124492602646
HP:0001744HP:0001744Splenomegaly0GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA1661574696611499
HP:0001744HP:0001744Splenomegaly0GUSB CL E G H2990253220Mucopolysaccharidosis type VII253220C0085132OMIM1661574696611499
HP:0001744HP:0001744Splenomegaly0HAMP CL E G H57817613313Hemochromatosis type 2B613313C1865616OMIM1164215598606464
HP:0001744HP:0001744Splenomegaly0HBA1 CL E G H3039163596ORPHA12173464823141800
HP:0001744HP:0001744Splenomegaly0HBA1 CL E G H3039613978Hemoglobin H613978C3161174OMIM12173464823141800
HP:0001744HP:0001744Splenomegaly0HBA2 CL E G H3040163596ORPHA12962744824141850
HP:0001744HP:0001744Splenomegaly0HBA2 CL E G H3040613978Hemoglobin H613978C3161174OMIM12962744824141850
HP:0001744HP:0001744Splenomegaly0HBB CL E G H3043231226ORPHA187110094827141900
HP:0001744HP:0001744Splenomegaly0HBB CL E G H3043231222ORPHA187110094827141900
HP:0001744HP:0001744Splenomegaly0HBB CL E G H3043231242ORPHA187110094827141900
HP:0001744HP:0001744Splenomegaly0HBB CL E G H304346532ORPHA187110094827141900
HP:0001744HP:0001744Splenomegaly0HBB CL E G H3043603903Hb SS disease603903C0002895OMIM187110094827141900
HP:0001744HP:0001744Splenomegaly0HBG1 CL E G H304746532ORPHA144564831142200
HP:0001744HP:0001744Splenomegaly0HBG2 CL E G H304846532ORPHA149724832142250
HP:0001744HP:0001744Splenomegaly0HFE CL E G H3077235200Hemochromatosis type 1235200C3469186OMIM1611034886613609
HP:0001744HP:0001744Splenomegaly0HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM17237126527610453
HP:0001744HP:0001744Splenomegaly0HJV CL E G H148738602390Hemochromatosis type 2A602390C1865614OMIM1582574887608374
HP:0001744HP:0001744Splenomegaly0HK1 CL E G H3098235700Hemolytic anemia due to hexokinase deficiency235700C0472792OMIM19964922142600
HP:0001744HP:0001744Splenomegaly0HLA-DRB1 CL E G H3123545Adducted thumbs Dundar typeORPHA126194948142857
HP:0001744HP:0001744Splenomegaly0HSD3B7 CL E G H8027079301ORPHA1269618324607764
HP:0001744HP:0001744Splenomegaly0HSD3B7 CL E G H80270607765Bile acid synthesis defect, congenital, 1607765C1843116OMIM1269618324607764
HP:0001744HP:0001744Splenomegaly0ICOS CL E G H298511572ORPHA161085351604558
HP:0001744HP:0001744Splenomegaly0ICOS CL E G H29851607594Common variable immunodeficiency 1607594C3149378OMIM161085351604558
HP:0001744HP:0001744Splenomegaly0ICOS CL E G H29851240500Common variable immunodeficiency 2240500C3150354OMIM161085351604558
HP:0001744HP:0001744Splenomegaly0IDS CL E G H3423309900Mucopolysaccharidosis, MPS-II309900C0026705OMIM16404245389300823
HP:0001744HP:0001744Splenomegaly0IDUA CL E G H342593474ORPHA12916225391252800
HP:0001744HP:0001744Splenomegaly0IDUA CL E G H342593473ORPHA12916225391252800
HP:0001744HP:0001744Splenomegaly0IDUA CL E G H342593476ORPHA12916225391252800
HP:0001744HP:0001744Splenomegaly0IDUA CL E G H3425607014Dysostosis multiplex607014C0086795OMIM12916225391252800
HP:0001744HP:0001744Splenomegaly0IDUA CL E G H3425607015Mucopolysaccharidosis, MPS-I-H/S607015C0086431OMIM12916225391252800
HP:0001744HP:0001744Splenomegaly0IFNGR1 CL E G H3459209950Disseminated atypical mycobacterial infection209950C0694566OMIM1501695439107470
HP:0001744HP:0001744Splenomegaly0IFT172 CL E G H26160615630Short-rib thoracic dysplasia 10 with or without polydactyly615630C3810175OMIM12726930391607386
HP:0001744HP:0001744Splenomegaly0IGH CL E G H349252416ORPHA11625477146910
HP:0001744HP:0001744Splenomegaly0IGH CL E G H3492545Adducted thumbs Dundar typeORPHA11625477146910
HP:0001744HP:0001744Splenomegaly0IL1RN CL E G H3557612852Osteomyelitis, sterile multifocal, with periostitis and pustulosis612852C2748507OMIM1181016000147679
HP:0001744HP:0001744Splenomegaly0IL2RA CL E G H3559606367Interleukin 2 receptor, alpha, deficiency of606367C1853392OMIM1191766008147730
HP:0001744HP:0001744Splenomegaly0IL2RG CL E G H356139041ORPHA12502716010308380
HP:0001744HP:0001744Splenomegaly0IL7R CL E G H357539041ORPHA1592406024146661
HP:0001744HP:0001744Splenomegaly0IL7R CL E G H3575608971Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive608971C1837028OMIM1592406024146661
HP:0001744HP:0001744Splenomegaly0IRF8 CL E G H3394226990Immunodeficiency 32b226990C4016741OMIM1101315358601565
HP:0001744HP:0001744Splenomegaly0ITCH CL E G H83737613385Autoimmune disease, syndromic multisystem613385C3150649OMIM129013890606409
HP:0001744HP:0001744Splenomegaly0ITK CL E G H3702613011Lymphoproliferative syndrome 1613011C3552634OMIM1141796171186973
HP:0001744HP:0001744Splenomegaly0JAK2 CL E G H371771493ORPHA1262286192147796
HP:0001744HP:0001744Splenomegaly0JAK2 CL E G H37173318ORPHA1262286192147796
HP:0001744HP:0001744Splenomegaly0JAK2 CL E G H3717729Anti-factor 8 autoimmunizationORPHA1262286192147796
HP:0001744HP:0001744Splenomegaly0JAK2 CL E G H3717133100Familial erythrocytosis, 1133100C1851490OMIM1262286192147796
HP:0001744HP:0001744Splenomegaly0JAK2 CL E G H3717254450Myelofibrosis254450C0001815OMIM1262286192147796
HP:0001744HP:0001744Splenomegaly0JAK2 CL E G H3717131Myeloid sarcomaORPHA1262286192147796
HP:0001744HP:0001744Splenomegaly0JAK2 CL E G H3717263300Polycythemia vera263300C0032463OMIM1262286192147796
HP:0001744HP:0001744Splenomegaly0KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM113916250603305
HP:0001744HP:0001744Splenomegaly0KCNN4 CL E G H3783616689Dehydrated hereditary stomatocytosis 2616689C4225242OMIM14186293602754
HP:0001744HP:0001744Splenomegaly0KLF1 CL E G H1066146532ORPHA1105766345600599
HP:0001744HP:0001744Splenomegaly0KLF1 CL E G H10661613673Congenital dyserythropoietic anemia, type IV613673C3150926OMIM1105766345600599
HP:0001744HP:0001744Splenomegaly0KRAS CL E G H3845614470RAS-associated autoimmune leukoproliferative disorder614470C2674723OMIM1452746407190070
HP:0001744HP:0001744Splenomegaly0LBR CL E G H3930613471Reynolds syndrome613471C0748397OMIM1281726518600024
HP:0001744HP:0001744Splenomegaly0LIG4 CL E G H398139041ORPHA1403176601601837
HP:0001744HP:0001744Splenomegaly0LIPA CL E G H398875233ORPHA1962466617613497
HP:0001744HP:0001744Splenomegaly0LIPA CL E G H398875234Cholesteryl ester storage diseaseC0008384ORPHA1962466617613497
HP:0001744HP:0001744Splenomegaly0LIPA CL E G H3988278000Lysosomal acid lipase deficiency278000C0043208OMIM1962466617613497
HP:0001744HP:0001744Splenomegaly0LPIN2 CL E G H966377297ORPHA11650914450605519
HP:0001744HP:0001744Splenomegaly0LPL CL E G H4023238600Hyperlipoproteinemia, type I238600C0023817OMIM12322726677609708
HP:0001744HP:0001744Splenomegaly0LYST CL E G H1130167ORPHA11028071968606897
HP:0001744HP:0001744Splenomegaly0LYST CL E G H1130214500Chédiak-Higashi syndrome214500C0007965OMIM11028071968606897
HP:0001744HP:0001744Splenomegaly0LYZ CL E G H4069105200Familial visceral amyloidosis, Ostertag type105200C0268389OMIM110636740153450
HP:0001744HP:0001744Splenomegaly0MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM11513936826609458
HP:0001744HP:0001744Splenomegaly0MCM4 CL E G H4173609981Natural killer cell and glucocorticoid deficiency with DNA repair defect609981C1864947OMIM151716947602638
HP:0001744HP:0001744Splenomegaly0MEFV CL E G H4210249100Familial Mediterranean fever249100C0031069OMIM11895616998608107
HP:0001744HP:0001744Splenomegaly0MKS1 CL E G H54903249000Meckel syndrome type 1249000C3714506OMIM1523347121609883
HP:0001744HP:0001744Splenomegaly0MMUT CL E G H459479312ORPHA14407526609058
HP:0001744HP:0001744Splenomegaly0MPL CL E G H435271493ORPHA1571877217159530
HP:0001744HP:0001744Splenomegaly0MPL CL E G H43523318ORPHA1571877217159530
HP:0001744HP:0001744Splenomegaly0MPL CL E G H4352729Anti-factor 8 autoimmunizationORPHA1571877217159530
HP:0001744HP:0001744Splenomegaly0MPL CL E G H4352254450Myelofibrosis254450C0001815OMIM1571877217159530
HP:0001744HP:0001744Splenomegaly0MS4A1 CL E G H9311572ORPHA12147315112210
HP:0001744HP:0001744Splenomegaly0MST1 CL E G H4485171Le Marec Bracq Picaud syndromeORPHA11157380142408
HP:0001744HP:0001744Splenomegaly0MVK CL E G H459829ORPHA11832777530251170
HP:0001744HP:0001744Splenomegaly0MVK CL E G H4598260920Hyperimmunoglobulin D with periodic fever260920C0398691OMIM11832777530251170
HP:0001744HP:0001744Splenomegaly0NAGLU CL E G H4669252920Mucopolysaccharidosis, MPS-III-B252920C0086648OMIM11762847632609701
HP:0001744HP:0001744Splenomegaly0NBEAL2 CL E G H23218721ORPHA15129531928614169
HP:0001744HP:0001744Splenomegaly0NBEAL2 CL E G H23218139090Gray platelet syndrome139090C0272302OMIM15129531928614169
HP:0001744HP:0001744Splenomegaly0NCF1 CL E G H653361233700Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1233700C1856251OMIM148867660608512
HP:0001744HP:0001744Splenomegaly0NCF2 CL E G H4688233710Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2233710C1856245OMIM1791837661608515
HP:0001744HP:0001744Splenomegaly0NEU1 CL E G H4758812ORPHA1641027758608272
HP:0001744HP:0001744Splenomegaly0NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM1641027758608272
HP:0001744HP:0001744Splenomegaly0NFKB1 CL E G H47901572ORPHA136977794164011
HP:0001744HP:0001744Splenomegaly0NFKB2 CL E G H47911572ORPHA1111657795164012
HP:0001744HP:0001744Splenomegaly0NLRC4 CL E G H584841451ORPHA1921416412606831
HP:0001744HP:0001744Splenomegaly0NLRC4 CL E G H58484616050Autoinflammation with infantile enterocolitis616050C4015067OMIM1921416412606831
HP:0001744HP:0001744Splenomegaly0NLRP1 CL E G H22861617388Autoinflammation with arthritis and dyskeratosis617388C4479278OMIM11813414374606636
HP:0001744HP:0001744Splenomegaly0NLRP3 CL E G H1145481451ORPHA114248816400606416
HP:0001744HP:0001744Splenomegaly0NLRP3 CL E G H114548575Aicardi Goutieres syndromeC0393591ORPHA114248816400606416
HP:0001744HP:0001744Splenomegaly0NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM1277814537601015
HP:0001744HP:0001744Splenomegaly0NRAS CL E G H4893614470RAS-associated autoimmune leukoproliferative disorder614470C2674723OMIM1141817989164790
HP:0001744HP:0001744Splenomegaly0OCLN CL E G H100506658251290Band-like calcification with simplified gyration and polymicrogyria251290C3489725OMIM120618104602876
HP:0001744HP:0001744Splenomegaly0OTC CL E G H5009664Anaplastic thyroid carcinomaC0238461ORPHA15276418512300461
HP:0001744HP:0001744Splenomegaly0PDGFRA CL E G H5156607685Idiopathic hypereosinophilic syndrome607685C0206141OMIM12812488803173490
HP:0001744HP:0001744Splenomegaly0PEPD CL E G H5184170100Prolidase deficiency170100C0268532OMIM1311298840613230
HP:0001744HP:0001744Splenomegaly0PEX2 CL E G H5828614866Peroxisome biogenesis disorder 5a (zellweger)614866C3553940OMIM1182089717170993
HP:0001744HP:0001744Splenomegaly0PEX7 CL E G H5191773ORPHA1531878860601757
HP:0001744HP:0001744Splenomegaly0PHKG2 CL E G H5261613027Glycogen storage disease IXc613027C2751643OMIM1331208931172471
HP:0001744HP:0001744Splenomegaly0PHYH CL E G H5264773ORPHA1371278940602026
HP:0001744HP:0001744Splenomegaly0PIEZO1 CL E G H9780616843Lymphedema, hereditary, III616843C4225184OMIM16647828993611184
HP:0001744HP:0001744Splenomegaly0PIGM CL E G H93183610293Glycosylphosphatidylinositol deficiency610293C1853205OMIM112818858610273
HP:0001744HP:0001744Splenomegaly0PIK3CA CL E G H5290612918Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi612918C2752042OMIM1573798975171834
HP:0001744HP:0001744Splenomegaly0PKHD1 CL E G H5314263200Autosomal recessive polycystic kidney disease263200C0085548OMIM156516309016606702
HP:0001744HP:0001744Splenomegaly0PKLR CL E G H5313766ORPHA12821199020609712
HP:0001744HP:0001744Splenomegaly0PKLR CL E G H5313266200Pyruvate kinase deficiency of red cells266200C0340968OMIM12821199020609712
HP:0001744HP:0001744Splenomegaly0PNP CL E G H4860613179Purine-nucleoside phosphorylase deficiency613179C0268125OMIM1341397892164050
HP:0001744HP:0001744Splenomegaly0PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM11842359360170280
HP:0001744HP:0001744Splenomegaly0PRKCD CL E G H55801572ORPHA161449399176977
HP:0001744HP:0001744Splenomegaly0PRKCD CL E G H5580615559Autoimmune lymphoproliferative syndrome, type III615559C3809928OMIM161449399176977
HP:0001744HP:0001744Splenomegaly0PSAP CL E G H5660139406ORPHA1272209498176801
HP:0001744HP:0001744Splenomegaly0PSAP CL E G H5660611721Combined saposin deficiency611721C2673635OMIM1272209498176801
HP:0001744HP:0001744Splenomegaly0PSMB8 CL E G H56962615ORPHA111869545177046
HP:0001744HP:0001744Splenomegaly0PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM111869545177046
HP:0001744HP:0001744Splenomegaly0PTPRC CL E G H5788608971Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive608971C1837028OMIM182259666151460
HP:0001744HP:0001744Splenomegaly0RAB27A CL E G H587379477ORPHA1541769766603868
HP:0001744HP:0001744Splenomegaly0RAG1 CL E G H5896231154ORPHA11873349831179615
HP:0001744HP:0001744Splenomegaly0RAG1 CL E G H589639041ORPHA11873349831179615
HP:0001744HP:0001744Splenomegaly0RAG1 CL E G H5896603554Histiocytic medullary reticulosis603554C1801959OMIM11873349831179615
HP:0001744HP:0001744Splenomegaly0RAG2 CL E G H589739041ORPHA1841759832179616
HP:0001744HP:0001744Splenomegaly0RAG2 CL E G H5897603554Histiocytic medullary reticulosis603554C1801959OMIM1841759832179616
HP:0001744HP:0001744Splenomegaly0RHAG CL E G H6005185000Stomatocytosis I185000C1861455OMIM1283110006180297
HP:0001744HP:0001744Splenomegaly0RMRP CL E G H602339041ORPHA112341110031157660
HP:0001744HP:0001744Splenomegaly0RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM12113318518606034
HP:0001744HP:0001744Splenomegaly0RNU4ATAC CL E G H100151683616651Roifman syndrome616651C1846059OMIM1245634016601428
HP:0001744HP:0001744Splenomegaly0RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM15143229168610937
HP:0001744HP:0001744Splenomegaly0RUNX1 CL E G H861521ORPHA110565810471151385
HP:0001744HP:0001744Splenomegaly0SAMD9L CL E G H2192852585ORPHA119721349611170
HP:0001744HP:0001744Splenomegaly0SCARB2 CL E G H95077259ORPHA1272291665602257
HP:0001744HP:0001744Splenomegaly0SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM1115714372607982
HP:0001744HP:0001744Splenomegaly0SEC23B CL E G H10483224100Congenital dyserythropoietic anemia, type II224100C1306589OMIM112614310702610512
HP:0001744HP:0001744Splenomegaly0SGSH CL E G H6448252900Mucopolysaccharidosis, MPS-III-A252900C0086647OMIM114840810818605270
HP:0001744HP:0001744Splenomegaly0SH2B3 CL E G H100193318ORPHA1162929605605093
HP:0001744HP:0001744Splenomegaly0SH2B3 CL E G H10019187950Essential thrombocythemia187950C0040028OMIM1162929605605093
HP:0001744HP:0001744Splenomegaly0SH2B3 CL E G H10019133100Familial erythrocytosis, 1133100C1851490OMIM1162929605605093
HP:0001744HP:0001744Splenomegaly0SH2B3 CL E G H10019254450Myelofibrosis254450C0001815OMIM1162929605605093
HP:0001744HP:0001744Splenomegaly0SH2D1A CL E G H40682442ORPHA113124010820300490
HP:0001744HP:0001744Splenomegaly0SH2D1A CL E G H4068308240Lymphoproliferative syndrome 1, X-linked308240C1868674OMIM113124010820300490
HP:0001744HP:0001744Splenomegaly0SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM15519210933604322
HP:0001744HP:0001744Splenomegaly0SLC29A3 CL E G H55315602782Histiocytosis-lymphadenopathy plus syndrome602782C1864445OMIM12619023096612373
HP:0001744HP:0001744Splenomegaly0SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM128151611005138140
HP:0001744HP:0001744Splenomegaly0SLC30A10 CL E G H55532309854ORPHA1229225355611146
HP:0001744HP:0001744Splenomegaly0SLC39A4 CL E G H55630201100Hereditary acrodermatitis enteropathica201100C0221036OMIM15223617129607059
HP:0001744HP:0001744Splenomegaly0SLC4A1 CL E G H6521185020Pseudohyperkalemia Cardiff185020C1861453OMIM115022711027109270
HP:0001744HP:0001744Splenomegaly0SLC4A1 CL E G H6521612653Spherocytosis type 4612653C2675212OMIM115022711027109270
HP:0001744HP:0001744Splenomegaly0SLC7A7 CL E G H9056222700Lysinuric protein intolerance222700C0268647OMIM16725211065603593
HP:0001744HP:0001744Splenomegaly0SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM125439711120607608
HP:0001744HP:0001744Splenomegaly0SMPD1 CL E G H6609607616Niemann-Pick disease, type B607616C0268243OMIM125439711120607608
HP:0001744HP:0001744Splenomegaly0SNX10 CL E G H29887667ORPHA1134614974614780
HP:0001744HP:0001744Splenomegaly0SNX10 CL E G H29887615085Osteopetrosis, autosomal recessive 8615085C3554478OMIM1134614974614780
HP:0001744HP:0001744Splenomegaly0SPTB CL E G H6710616649Spherocytosis type 2616649C2674219OMIM110321911274182870
HP:0001744HP:0001744Splenomegaly0STEAP3 CL E G H55240615234Hypochromic microcytic anemia with iron overload 2615234C3808920OMIM113724592609671
HP:0001744HP:0001744Splenomegaly0SUMF1 CL E G H285362585ORPHA15526520376607939
HP:0001744HP:0001744Splenomegaly0SUMF1 CL E G H285362272200Multiple sulfatase deficiency272200C0268263OMIM15526520376607939
HP:0001744HP:0001744Splenomegaly0TALDO1 CL E G H6888606003Deficiency of transaldolase606003C1291329OMIM1108811559602063
HP:0001744HP:0001744Splenomegaly0TCF4 CL E G H6925171Le Marec Bracq Picaud syndromeORPHA114862411634602272
HP:0001744HP:0001744Splenomegaly0TCIRG1 CL E G H10312667ORPHA113728911647604592
HP:0001744HP:0001744Splenomegaly0TCIRG1 CL E G H10312259700Osteopetrosis autosomal recessive 1259700C1850127OMIM113728911647604592
HP:0001744HP:0001744Splenomegaly0TET2 CL E G H547903318ORPHA1126725941612839
HP:0001744HP:0001744Splenomegaly0TET2 CL E G H54790729Anti-factor 8 autoimmunizationORPHA1126725941612839
HP:0001744HP:0001744Splenomegaly0THPO CL E G H706671493ORPHA1158811795600044
HP:0001744HP:0001744Splenomegaly0THPO CL E G H7066187950Essential thrombocythemia187950C0040028OMIM1158811795600044
HP:0001744HP:0001744Splenomegaly0TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM117431628396609884
HP:0001744HP:0001744Splenomegaly0TNFRSF13B CL E G H234951572ORPHA15022818153604907
HP:0001744HP:0001744Splenomegaly0TNFRSF13B CL E G H23495240500Common variable immunodeficiency 2240500C3150354OMIM15022818153604907
HP:0001744HP:0001744Splenomegaly0TNFRSF13C CL E G H1156501572ORPHA138217755606269
HP:0001744HP:0001744Splenomegaly0TNFRSF13C CL E G H115650240500Common variable immunodeficiency 2240500C3150354OMIM138217755606269
HP:0001744HP:0001744Splenomegaly0TNFRSF1A CL E G H713232960ORPHA110927911916191190
HP:0001744HP:0001744Splenomegaly0TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA135011917191191
HP:0001744HP:0001744Splenomegaly0TNFRSF4 CL E G H7293615593Immunodeficiency 16615593C3810053OMIM1222211918600315
HP:0001744HP:0001744Splenomegaly0TNFSF11 CL E G H8600667ORPHA11611711926602642
HP:0001744HP:0001744Splenomegaly0TNFSF12 CL E G H87421572ORPHA116711927602695
HP:0001744HP:0001744Splenomegaly0TP53 CL E G H71573318ORPHA1541203511998191170
HP:0001744HP:0001744Splenomegaly0TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM11910412009190450
HP:0001744HP:0001744Splenomegaly0TPP2 CL E G H7174444463ORPHA1419712016190470
HP:0001744HP:0001744Splenomegaly0UMPS CL E G H737230ORPHA11322712563613891
HP:0001744HP:0001744Splenomegaly0UROS CL E G H739079277ORPHA15111512592606938
HP:0001744HP:0001744Splenomegaly0UROS CL E G H7390263700Congenital erythropoietic porphyria263700C0162530OMIM15111512592606938
HP:0001744HP:0001744Splenomegaly0VPS33A CL E G H65082617303Mucopolysaccharidosis-plus syndrome617303C4310627OMIM114618179610034
HP:0001744HP:0001744Splenomegaly0VPS45 CL E G H11311615285Severe congenital neutropenia 5, autosomal recessive615285C3809031OMIM1410214579610035
HP:0001744HP:0001744Splenomegaly0WDR35 CL E G H57539613610Cranioectodermal dysplasia 2613610C3150874OMIM13129229250613602
HP:0001744HP:0001744Splenomegaly0XIAP CL E G H3312442ORPHA199361592300079
HP:0001744HP:0001744Splenomegaly0XIAP CL E G H331308240Lymphoproliferative syndrome 1, X-linked308240C1868674OMIM199361592300079
HP:0001744HP:0001744Splenomegaly0ZAP70 CL E G H7535269840Severe combined immunodeficiency, atypical269840C1849236OMIM13018612858176947
HP:0001744HP:0001744Splenomegaly1ABCA1 CL E G H19425ORPHA124035229600046
HP:0001744HP:0001744Splenomegaly1ABCA1 CL E G H19205400Tangier disease205400C0039292OMIM124035229600046
HP:0001744HP:0001744Splenomegaly1ABCB11 CL E G H8647601847Progressive familial intrahepatic cholestasis 2601847C3489789OMIM133146042603201
HP:0001744HP:0001744Splenomegaly1ABCB4 CL E G H5244602347Progressive familial intrahepatic cholestasis 3602347C1865643OMIM124433445171060
HP:0001744HP:0001744Splenomegaly1ABCD3 CL E G H5825616278Bile acid synthesis defect, congenital, 5616278C4225390OMIM172667170995
HP:0001744HP:0001744Splenomegaly1ABCG5 CL E G H64240210250Sitosterolemia210250C0342907OMIM14720113886605459
HP:0001744HP:0001744Splenomegaly1ABCG8 CL E G H64241210250Sitosterolemia210250C0342907OMIM15129313887605460
HP:0001744HP:0001744Splenomegaly1ABL1 CL E G H25521ORPHA1512776189980
HP:0001744HP:0001744Splenomegaly1ADA CL E G H10039041ORPHA196215186608958
HP:0001744HP:0001744Splenomegaly1ADA CL E G H100102700Severe combined immunodeficiency due to ADA deficiency102700C1863236OMIM196215186608958
HP:0001744HP:0001744Splenomegaly1ADAMTS3 CL E G H95082136Epidermal nevus vitamin D resistant ricketsORPHA1438219605011
HP:0001744HP:0001744Splenomegaly1AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM143189325603100
HP:0001744HP:0001744Splenomegaly1AKR1D1 CL E G H671879303ORPHA115179388604741
HP:0001744HP:0001744Splenomegaly1AKR1D1 CL E G H6718235555Bile acid synthesis defect, congenital, 2235555C1856127OMIM115179388604741
HP:0001744HP:0001744Splenomegaly1AKT1 CL E G H207176920Proteus syndrome176920C0085261OMIM112269391164730
HP:0001744HP:0001744Splenomegaly1ALDOA CL E G H226611881HNSHA due to aldolase A deficiency611881C0272066OMIM18306414103850
HP:0001744HP:0001744Splenomegaly1ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM14416818294605907
HP:0001744HP:0001744Splenomegaly1ANK1 CL E G H286182900Spherocytosis type 1182900C2674218OMIM1111388492612641
HP:0001744HP:0001744Splenomegaly1AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM135238566603401
HP:0001744HP:0001744Splenomegaly1AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1490568607246
HP:0001744HP:0001744Splenomegaly1APOA1 CL E G H335425ORPHA17776600107680
HP:0001744HP:0001744Splenomegaly1APOA1 CL E G H335105200Familial visceral amyloidosis, Ostertag type105200C0268389OMIM17776600107680
HP:0001744HP:0001744Splenomegaly1APOC2 CL E G H344207750Apolipoprotein C2 deficiency207750C1720779OMIM12445609608083
HP:0001744HP:0001744Splenomegaly1APOE CL E G H348158029ORPHA16462613107741
HP:0001744HP:0001744Splenomegaly1APOE CL E G H348269600Sea-blue histiocyte syndrome269600C0036489OMIM16462613107741
HP:0001744HP:0001744Splenomegaly1ARSB CL E G H411253200Mucopolysaccharidosis type VI253200C0026709OMIM1207446714611542
HP:0001744HP:0001744Splenomegaly1ASAH1 CL E G H427228000Farber disease228000C0268255OMIM171306735613468
HP:0001744HP:0001744Splenomegaly1ATM CL E G H47252416ORPHA113248934795607585
HP:0001744HP:0001744Splenomegaly1ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM15233868300197
HP:0001744HP:0001744Splenomegaly1ATP7B CL E G H540905ORPHA1938958870606882
HP:0001744HP:0001744Splenomegaly1ATP8B1 CL E G H5205211600Progressive intrahepatic cholestasis211600C0268312OMIM11403613706602397
HP:0001744HP:0001744Splenomegaly1B2M CL E G H567105200Familial visceral amyloidosis, Ostertag type105200C0268389OMIM1424914109700
HP:0001744HP:0001744Splenomegaly1BCL2 CL E G H596545Adducted thumbs Dundar typeORPHA1386990151430
HP:0001744HP:0001744Splenomegaly1BCL6 CL E G H604545Adducted thumbs Dundar typeORPHA11581001109565
HP:0001744HP:0001744Splenomegaly1BCR CL E G H613521ORPHA122111014151410
HP:0001744HP:0001744Splenomegaly1BPGM CL E G H669222800Deficiency of bisphosphoglycerate mutase222800C1291620OMIM111371093613896
HP:0001744HP:0001744Splenomegaly1BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM1684901097164757
HP:0001744HP:0001744Splenomegaly1BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM15026315832606158
HP:0001744HP:0001744Splenomegaly1BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM12483711122609019
HP:0001744HP:0001744Splenomegaly1C15orf41 CL E G H84529615631ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib615631C3810185OMIM1626929615626
HP:0001744HP:0001744Splenomegaly1CA2 CL E G H7602785ORPHA131761373611492
HP:0001744HP:0001744Splenomegaly1CALR CL E G H8113318ORPHA15281455109091
HP:0001744HP:0001744Splenomegaly1CALR CL E G H811187950Essential thrombocythemia187950C0040028OMIM15281455109091
HP:0001744HP:0001744Splenomegaly1CALR CL E G H811254450Myelofibrosis254450C0001815OMIM15281455109091
HP:0001744HP:0001744Splenomegaly1CARD11 CL E G H84433616452B-cell expansion with NFKB and T-cell anergy616452CN231446OMIM11430916393607210
HP:0001744HP:0001744Splenomegaly1CASP10 CL E G H843603909Autoimmune lymphoproliferative syndrome, type 2A603909C1858968OMIM192361500601762
HP:0001744HP:0001744Splenomegaly1CASP8 CL E G H841607271Caspase-8 deficiency607271C1846545OMIM1121391509601763
HP:0001744HP:0001744Splenomegaly1CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA14109551514601199
HP:0001744HP:0001744Splenomegaly1CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM14109551514601199
HP:0001744HP:0001744Splenomegaly1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM115949688603198
HP:0001744HP:0001744Splenomegaly1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM19658429253612013
HP:0001744HP:0001744Splenomegaly1CCBE1 CL E G H1473722136Epidermal nevus vitamin D resistant ricketsORPHA11330529426612753
HP:0001744HP:0001744Splenomegaly1CCDC115 CL E G H84317616828CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo616828C4225191OMIM154828178613734
HP:0001744HP:0001744Splenomegaly1CCND1 CL E G H59552416ORPHA17101582168461
HP:0001744HP:0001744Splenomegaly1CD19 CL E G H9301572ORPHA1101961633107265
HP:0001744HP:0001744Splenomegaly1CD19 CL E G H930240500Common variable immunodeficiency 2240500C3150354OMIM1101961633107265
HP:0001744HP:0001744Splenomegaly1CD27 CL E G H939615122Lymphoproliferative syndrome 2615122C3554540OMIM189611922186711
HP:0001744HP:0001744Splenomegaly1CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA1271653186760
HP:0001744HP:0001744Splenomegaly1CD40LG CL E G H959308230Immunodeficiency with hyper IgM type 1308230C0398689OMIM124127811935300386
HP:0001744HP:0001744Splenomegaly1CD81 CL E G H9751572ORPHA12491701186845
HP:0001744HP:0001744Splenomegaly1CDAN1 CL E G H146059224120Congenital dyserythropoietic anemia, type I224120C0271933OMIM1691921713607465
HP:0001744HP:0001744Splenomegaly1CHD7 CL E G H5563639041ORPHA1884126620626608892
HP:0001744HP:0001744Splenomegaly1CLCN7 CL E G H1186667ORPHA11002682025602727
HP:0001744HP:0001744Splenomegaly1CLDN1 CL E G H907659303ORPHA14732032603718
HP:0001744HP:0001744Splenomegaly1COX4I2 CL E G H84701612714Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis612714C2675184OMIM113316232607976
HP:0001744HP:0001744Splenomegaly1CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM1731362321612732
HP:0001744HP:0001744Splenomegaly1CR2 CL E G H13801572ORPHA1192332336120650
HP:0001744HP:0001744Splenomegaly1CR2 CL E G H1380240500Common variable immunodeficiency 2240500C3150354OMIM1192332336120650
HP:0001744HP:0001744Splenomegaly1CTLA4 CL E G H1493616100Autoimmune lymphoproliferatiVe syndrome, type V616100C4015214OMIM1721142505123890
HP:0001744HP:0001744Splenomegaly1CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA1721142505123890
HP:0001744HP:0001744Splenomegaly1CTNS CL E G H1497219800Nephropathic cystinosis219800C0010690OMIM11604182518606272
HP:0001744HP:0001744Splenomegaly1CYBA CL E G H1535233690Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative233690C1856255OMIM1761792577608508
HP:0001744HP:0001744Splenomegaly1CYBB CL E G H1536306400Chronic granulomatous disease, X-linked306400C1844376OMIM17823762578300481
HP:0001744HP:0001744Splenomegaly1CYP7B1 CL E G H942079302ORPHA1631992652603711
HP:0001744HP:0001744Splenomegaly1CYP7B1 CL E G H9420613812Bile acid synthesis defect, congenital, 3613812C3151147OMIM1631992652603711
HP:0001744HP:0001744Splenomegaly1DCDC2 CL E G H51473616217Nephronophthisis 19616217C4015542OMIM11110618141605755
HP:0001744HP:0001744Splenomegaly1DCDC2 CL E G H51473617394Sclerosing cholangitis, neonatal617394C4479344OMIM11110618141605755
HP:0001744HP:0001744Splenomegaly1DCLRE1C CL E G H6442139041ORPHA19131817642605988
HP:0001744HP:0001744Splenomegaly1DCLRE1C CL E G H64421603554Histiocytic medullary reticulosis603554C1801959OMIM19131817642605988
HP:0001744HP:0001744Splenomegaly1DDRGK1 CL E G H6599293352ORPHA114216110616177
HP:0001744HP:0001744Splenomegaly1DDRGK1 CL E G H65992602557Spondyloepimetaphyseal dysplasia Shohat type602557C1865185OMIM114216110616177
HP:0001744HP:0001744Splenomegaly1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM1641222858601465
HP:0001744HP:0001744Splenomegaly1DGUOK CL E G H1716617068Portal hypertension, noncirrhotic617068C4310735OMIM1641222858601465
HP:0001744HP:0001744Splenomegaly1DOLK CL E G H2284591131ORPHA11121523406610746
HP:0001744HP:0001744Splenomegaly1DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM191203005603503
HP:0001744HP:0001744Splenomegaly1DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM11417324595617083
HP:0001744HP:0001744Splenomegaly1ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM11404993438609413
HP:0001744HP:0001744Splenomegaly1ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM1701993439609412
HP:0001744HP:0001744Splenomegaly1F5 CL E G H2153131Myeloid sarcomaORPHA11693293542612309
HP:0001744HP:0001744Splenomegaly1FAH CL E G H2184276700Tyrosinemia type I276700C0268490OMIM11022633579613871
HP:0001744HP:0001744Splenomegaly1FAS CL E G H355601859Autoimmune lymphoproliferative syndrome601859C1328840OMIM114216911920134637
HP:0001744HP:0001744Splenomegaly1FASLG CL E G H356601859Autoimmune lymphoproliferative syndrome601859C1328840OMIM1119811936134638
HP:0001744HP:0001744Splenomegaly1FAT4 CL E G H796332136Epidermal nevus vitamin D resistant ricketsORPHA13731723109612411
HP:0001744HP:0001744Splenomegaly1FERMT3 CL E G H83706612840Leukocyte adhesion deficiency, type III612840C2748536OMIM11413723151607901
HP:0001744HP:0001744Splenomegaly1FGA CL E G H2243105200Familial visceral amyloidosis, Ostertag type105200C0268389OMIM11551103661134820
HP:0001744HP:0001744Splenomegaly1FMO3 CL E G H2328602079Trimethylaminuria602079C0342739OMIM1731093771136132
HP:0001744HP:0001744Splenomegaly1FUCA1 CL E G H2517230000Fucosidosis230000C0016788OMIM1341094006612280
HP:0001744HP:0001744Splenomegaly1G6PC3 CL E G H92579612541Severe congenital neutropenia 4, autosomal recessive612541C2675526OMIM14011924861611045
HP:0001744HP:0001744Splenomegaly1GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM158211854065606800
HP:0001744HP:0001744Splenomegaly1GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM1271124116606953
HP:0001744HP:0001744Splenomegaly1GATA1 CL E G H2623231393ORPHA1152354170305371
HP:0001744HP:0001744Splenomegaly1GATA1 CL E G H262379277ORPHA1152354170305371
HP:0001744HP:0001744Splenomegaly1GATA1 CL E G H2623314050Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis314050C1839161OMIM1152354170305371
HP:0001744HP:0001744Splenomegaly1GATA2 CL E G H26243226Lethal chondrodysplasia Seller typeORPHA11515164171137295
HP:0001744HP:0001744Splenomegaly1GBA CL E G H26292072ORPHA14942064177606463
HP:0001744HP:0001744Splenomegaly1GBA CL E G H262977261ORPHA14942064177606463
HP:0001744HP:0001744Splenomegaly1GBA CL E G H262977259ORPHA14942064177606463
HP:0001744HP:0001744Splenomegaly1GBA CL E G H262985212ORPHA14942064177606463
HP:0001744HP:0001744Splenomegaly1GBA CL E G H262977260ORPHA14942064177606463
HP:0001744HP:0001744Splenomegaly1GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14942064177606463
HP:0001744HP:0001744Splenomegaly1GBA CL E G H2629231005Gaucher disease type 3C231005C1856476OMIM14942064177606463
HP:0001744HP:0001744Splenomegaly1GBA CL E G H2629608013Gaucher disease, perinatal lethal608013C1842704OMIM14942064177606463
HP:0001744HP:0001744Splenomegaly1GBA CL E G H2629230800Gaucher's disease, type 1230800C1961835OMIM14942064177606463
HP:0001744HP:0001744Splenomegaly1GBA CL E G H2629231000Subacute neuronopathic Gaucher's disease231000C0268251OMIM14942064177606463
HP:0001744HP:0001744Splenomegaly1GFI1B CL E G H8328721ORPHA112614238604383
HP:0001744HP:0001744Splenomegaly1GLB1 CL E G H2720230500Infantile GM1 gangliosidosis230500C0268271OMIM12313084298611458
HP:0001744HP:0001744Splenomegaly1GLRX5 CL E G H51218616860Sideroblastic anemia 3, pyridoxine-refractory616860C4225155OMIM164720134609588
HP:0001744HP:0001744Splenomegaly1GNE CL E G H10020269921Sialuria269921C0342853OMIM122247523657603824
HP:0001744HP:0001744Splenomegaly1GNPTAB CL E G H79158576ORPHA118846229670607840
HP:0001744HP:0001744Splenomegaly1GNPTAB CL E G H79158252500I cell disease252500C2673377OMIM118846229670607840
HP:0001744HP:0001744Splenomegaly1GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM1251464422607664
HP:0001744HP:0001744Splenomegaly1GP1BA CL E G H2811153670Bernard-Soulier syndrome, type A2, autosomal dominant153670C3277076OMIM177734439606672
HP:0001744HP:0001744Splenomegaly1GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA1985264451300037
HP:0001744HP:0001744Splenomegaly1GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM1985264451300037
HP:0001744HP:0001744Splenomegaly1GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA151964452300168
HP:0001744HP:0001744Splenomegaly1GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM151964452300168
HP:0001744HP:0001744Splenomegaly1GPI CL E G H2821613470Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency613470C3150730OMIM142454458172400
HP:0001744HP:0001744Splenomegaly1GPIHBP1 CL E G H338328615947Hyperlipoproteinemia, type ID615947C4014767OMIM1347524945612757
HP:0001744HP:0001744Splenomegaly1GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA121124492602646
HP:0001744HP:0001744Splenomegaly1GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA1661574696611499
HP:0001744HP:0001744Splenomegaly1GUSB CL E G H2990253220Mucopolysaccharidosis type VII253220C0085132OMIM1661574696611499
HP:0001744HP:0001744Splenomegaly1HAMP CL E G H57817613313Hemochromatosis type 2B613313C1865616OMIM1164215598606464
HP:0001744HP:0001744Splenomegaly1HBA1 CL E G H3039163596ORPHA12173464823141800
HP:0001744HP:0001744Splenomegaly1HBA1 CL E G H3039613978Hemoglobin H613978C3161174OMIM12173464823141800
HP:0001744HP:0001744Splenomegaly1HBA2 CL E G H3040163596ORPHA12962744824141850
HP:0001744HP:0001744Splenomegaly1HBA2 CL E G H3040613978Hemoglobin H613978C3161174OMIM12962744824141850
HP:0001744HP:0001744Splenomegaly1HBB CL E G H3043231222ORPHA187110094827141900
HP:0001744HP:0001744Splenomegaly1HBB CL E G H3043231242ORPHA187110094827141900
HP:0001744HP:0001744Splenomegaly1HBB CL E G H304346532ORPHA187110094827141900
HP:0001744HP:0001744Splenomegaly1HBB CL E G H3043231226ORPHA187110094827141900
HP:0001744HP:0001744Splenomegaly1HBB CL E G H3043603903Hb SS disease603903C0002895OMIM187110094827141900
HP:0001744HP:0001744Splenomegaly1HBG1 CL E G H304746532ORPHA144564831142200
HP:0001744HP:0001744Splenomegaly1HBG2 CL E G H304846532ORPHA149724832142250
HP:0001744HP:0001744Splenomegaly1HFE CL E G H3077235200Hemochromatosis type 1235200C3469186OMIM1611034886613609
HP:0001744HP:0001744Splenomegaly1HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM17237126527610453
HP:0001744HP:0001744Splenomegaly1HJV CL E G H148738602390Hemochromatosis type 2A602390C1865614OMIM1582574887608374
HP:0001744HP:0001744Splenomegaly1HK1 CL E G H3098235700Hemolytic anemia due to hexokinase deficiency235700C0472792OMIM19964922142600
HP:0001744HP:0001744Splenomegaly1HLA-DRB1 CL E G H3123545Adducted thumbs Dundar typeORPHA126194948142857
HP:0001744HP:0001744Splenomegaly1HSD3B7 CL E G H8027079301ORPHA1269618324607764
HP:0001744HP:0001744Splenomegaly1HSD3B7 CL E G H80270607765Bile acid synthesis defect, congenital, 1607765C1843116OMIM1269618324607764
HP:0001744HP:0001744Splenomegaly1ICOS CL E G H298511572ORPHA161085351604558
HP:0001744HP:0001744Splenomegaly1ICOS CL E G H29851607594Common variable immunodeficiency 1607594C3149378OMIM161085351604558
HP:0001744HP:0001744Splenomegaly1ICOS CL E G H29851240500Common variable immunodeficiency 2240500C3150354OMIM161085351604558
HP:0001744HP:0001744Splenomegaly1IDS CL E G H3423309900Mucopolysaccharidosis, MPS-II309900C0026705OMIM16404245389300823
HP:0001744HP:0001744Splenomegaly1IDUA CL E G H342593473ORPHA12916225391252800
HP:0001744HP:0001744Splenomegaly1IDUA CL E G H342593476ORPHA12916225391252800
HP:0001744HP:0001744Splenomegaly1IDUA CL E G H342593474ORPHA12916225391252800
HP:0001744HP:0001744Splenomegaly1IDUA CL E G H3425607014Dysostosis multiplex607014C0086795OMIM12916225391252800
HP:0001744HP:0001744Splenomegaly1IDUA CL E G H3425607015Mucopolysaccharidosis, MPS-I-H/S607015C0086431OMIM12916225391252800
HP:0001744HP:0001744Splenomegaly1IFNGR1 CL E G H3459209950Disseminated atypical mycobacterial infection209950C0694566OMIM1501695439107470
HP:0001744HP:0001744Splenomegaly1IFT172 CL E G H26160615630Short-rib thoracic dysplasia 10 with or without polydactyly615630C3810175OMIM12726930391607386
HP:0001744HP:0001744Splenomegaly1IGH CL E G H349252416ORPHA11625477146910
HP:0001744HP:0001744Splenomegaly1IGH CL E G H3492545Adducted thumbs Dundar typeORPHA11625477146910
HP:0001744HP:0001744Splenomegaly1IL1RN CL E G H3557612852Osteomyelitis, sterile multifocal, with periostitis and pustulosis612852C2748507OMIM1181016000147679
HP:0001744HP:0001744Splenomegaly1IL2RA CL E G H3559606367Interleukin 2 receptor, alpha, deficiency of606367C1853392OMIM1191766008147730
HP:0001744HP:0001744Splenomegaly1IL2RG CL E G H356139041ORPHA12502716010308380
HP:0001744HP:0001744Splenomegaly1IL7R CL E G H357539041ORPHA1592406024146661
HP:0001744HP:0001744Splenomegaly1IL7R CL E G H3575608971Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive608971C1837028OMIM1592406024146661
HP:0001744HP:0001744Splenomegaly1IRF8 CL E G H3394226990Immunodeficiency 32b226990C4016741OMIM1101315358601565
HP:0001744HP:0001744Splenomegaly1ITCH CL E G H83737613385Autoimmune disease, syndromic multisystem613385C3150649OMIM129013890606409
HP:0001744HP:0001744Splenomegaly1ITK CL E G H3702613011Lymphoproliferative syndrome 1613011C3552634OMIM1141796171186973
HP:0001744HP:0001744Splenomegaly1JAK2 CL E G H371771493ORPHA1262286192147796
HP:0001744HP:0001744Splenomegaly1JAK2 CL E G H37173318ORPHA1262286192147796
HP:0001744HP:0001744Splenomegaly1JAK2 CL E G H3717729Anti-factor 8 autoimmunizationORPHA1262286192147796
HP:0001744HP:0001744Splenomegaly1JAK2 CL E G H3717133100Familial erythrocytosis, 1133100C1851490OMIM1262286192147796
HP:0001744HP:0001744Splenomegaly1JAK2 CL E G H3717254450Myelofibrosis254450C0001815OMIM1262286192147796
HP:0001744HP:0001744Splenomegaly1JAK2 CL E G H3717131Myeloid sarcomaORPHA1262286192147796
HP:0001744HP:0001744Splenomegaly1JAK2 CL E G H3717263300Polycythemia vera263300C0032463OMIM1262286192147796
HP:0001744HP:0001744Splenomegaly1KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM113916250603305
HP:0001744HP:0001744Splenomegaly1KCNN4 CL E G H3783616689Dehydrated hereditary stomatocytosis 2616689C4225242OMIM14186293602754
HP:0001744HP:0001744Splenomegaly1KLF1 CL E G H1066146532ORPHA1105766345600599
HP:0001744HP:0001744Splenomegaly1KLF1 CL E G H10661613673Congenital dyserythropoietic anemia, type IV613673C3150926OMIM1105766345600599
HP:0001744HP:0001744Splenomegaly1KRAS CL E G H3845614470RAS-associated autoimmune leukoproliferative disorder614470C2674723OMIM1452746407190070
HP:0001744HP:0001744Splenomegaly1LBR CL E G H3930613471Reynolds syndrome613471C0748397OMIM1281726518600024
HP:0001744HP:0001744Splenomegaly1LIG4 CL E G H398139041ORPHA1403176601601837
HP:0001744HP:0001744Splenomegaly1LIPA CL E G H398875233ORPHA1962466617613497
HP:0001744HP:0001744Splenomegaly1LIPA CL E G H398875234Cholesteryl ester storage diseaseC0008384ORPHA1962466617613497
HP:0001744HP:0001744Splenomegaly1LIPA CL E G H3988278000Lysosomal acid lipase deficiency278000C0043208OMIM1962466617613497
HP:0001744HP:0001744Splenomegaly1LPIN2 CL E G H966377297ORPHA11650914450605519
HP:0001744HP:0001744Splenomegaly1LPL CL E G H4023238600Hyperlipoproteinemia, type I238600C0023817OMIM12322726677609708
HP:0001744HP:0001744Splenomegaly1LYST CL E G H1130167ORPHA11028071968606897
HP:0001744HP:0001744Splenomegaly1LYST CL E G H1130214500Chédiak-Higashi syndrome214500C0007965OMIM11028071968606897
HP:0001744HP:0001744Splenomegaly1LYZ CL E G H4069105200Familial visceral amyloidosis, Ostertag type105200C0268389OMIM110636740153450
HP:0001744HP:0001744Splenomegaly1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM11513936826609458
HP:0001744HP:0001744Splenomegaly1MCM4 CL E G H4173609981Natural killer cell and glucocorticoid deficiency with DNA repair defect609981C1864947OMIM151716947602638
HP:0001744HP:0001744Splenomegaly1MEFV CL E G H4210249100Familial Mediterranean fever249100C0031069OMIM11895616998608107
HP:0001744HP:0001744Splenomegaly1MKS1 CL E G H54903249000Meckel syndrome type 1249000C3714506OMIM1523347121609883
HP:0001744HP:0001744Splenomegaly1MMUT CL E G H459479312ORPHA14407526609058
HP:0001744HP:0001744Splenomegaly1MPL CL E G H43523318ORPHA1571877217159530
HP:0001744HP:0001744Splenomegaly1MPL CL E G H435271493ORPHA1571877217159530
HP:0001744HP:0001744Splenomegaly1MPL CL E G H4352729Anti-factor 8 autoimmunizationORPHA1571877217159530
HP:0001744HP:0001744Splenomegaly1MPL CL E G H4352254450Myelofibrosis254450C0001815OMIM1571877217159530
HP:0001744HP:0001744Splenomegaly1MS4A1 CL E G H9311572ORPHA12147315112210
HP:0001744HP:0001744Splenomegaly1MST1 CL E G H4485171Le Marec Bracq Picaud syndromeORPHA11157380142408
HP:0001744HP:0001744Splenomegaly1MVK CL E G H459829ORPHA11832777530251170
HP:0001744HP:0001744Splenomegaly1MVK CL E G H4598260920Hyperimmunoglobulin D with periodic fever260920C0398691OMIM11832777530251170
HP:0001744HP:0001744Splenomegaly1NAGLU CL E G H4669252920Mucopolysaccharidosis, MPS-III-B252920C0086648OMIM11762847632609701
HP:0001744HP:0001744Splenomegaly1NBEAL2 CL E G H23218721ORPHA15129531928614169
HP:0001744HP:0001744Splenomegaly1NBEAL2 CL E G H23218139090Gray platelet syndrome139090C0272302OMIM15129531928614169
HP:0001744HP:0001744Splenomegaly1NCF1 CL E G H653361233700Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1233700C1856251OMIM148867660608512
HP:0001744HP:0001744Splenomegaly1NCF2 CL E G H4688233710Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2233710C1856245OMIM1791837661608515
HP:0001744HP:0001744Splenomegaly1NEU1 CL E G H4758812ORPHA1641027758608272
HP:0001744HP:0001744Splenomegaly1NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM1641027758608272
HP:0001744HP:0001744Splenomegaly1NFKB1 CL E G H47901572ORPHA136977794164011
HP:0001744HP:0001744Splenomegaly1NFKB2 CL E G H47911572ORPHA1111657795164012
HP:0001744HP:0001744Splenomegaly1NLRC4 CL E G H584841451ORPHA1921416412606831
HP:0001744HP:0001744Splenomegaly1NLRC4 CL E G H58484616050Autoinflammation with infantile enterocolitis616050C4015067OMIM1921416412606831
HP:0001744HP:0001744Splenomegaly1NLRP1 CL E G H22861617388Autoinflammation with arthritis and dyskeratosis617388C4479278OMIM11813414374606636
HP:0001744HP:0001744Splenomegaly1NLRP3 CL E G H1145481451ORPHA114248816400606416
HP:0001744HP:0001744Splenomegaly1NLRP3 CL E G H114548575Aicardi Goutieres syndromeC0393591ORPHA114248816400606416
HP:0001744HP:0001744Splenomegaly1NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM1277814537601015
HP:0001744HP:0001744Splenomegaly1NRAS CL E G H4893614470RAS-associated autoimmune leukoproliferative disorder614470C2674723OMIM1141817989164790
HP:0001744HP:0001744Splenomegaly1OCLN CL E G H100506658251290Band-like calcification with simplified gyration and polymicrogyria251290C3489725OMIM120618104602876
HP:0001744HP:0001744Splenomegaly1OTC CL E G H5009664Anaplastic thyroid carcinomaC0238461ORPHA15276418512300461
HP:0001744HP:0001744Splenomegaly1PDGFRA CL E G H5156607685Idiopathic hypereosinophilic syndrome607685C0206141OMIM12812488803173490
HP:0001744HP:0001744Splenomegaly1PEPD CL E G H5184170100Prolidase deficiency170100C0268532OMIM1311298840613230
HP:0001744HP:0001744Splenomegaly1PEX2 CL E G H5828614866Peroxisome biogenesis disorder 5a (zellweger)614866C3553940OMIM1182089717170993
HP:0001744HP:0001744Splenomegaly1PEX7 CL E G H5191773ORPHA1531878860601757
HP:0001744HP:0001744Splenomegaly1PHKG2 CL E G H5261613027Glycogen storage disease IXc613027C2751643OMIM1331208931172471
HP:0001744HP:0001744Splenomegaly1PHYH CL E G H5264773ORPHA1371278940602026
HP:0001744HP:0001744Splenomegaly1PIEZO1 CL E G H9780616843Lymphedema, hereditary, III616843C4225184OMIM16647828993611184
HP:0001744HP:0001744Splenomegaly1PIGM CL E G H93183610293Glycosylphosphatidylinositol deficiency610293C1853205OMIM112818858610273
HP:0001744HP:0001744Splenomegaly1PIK3CA CL E G H5290612918Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi612918C2752042OMIM1573798975171834
HP:0001744HP:0001744Splenomegaly1PKHD1 CL E G H5314263200Autosomal recessive polycystic kidney disease263200C0085548OMIM156516309016606702
HP:0001744HP:0001744Splenomegaly1PKLR CL E G H5313766ORPHA12821199020609712
HP:0001744HP:0001744Splenomegaly1PKLR CL E G H5313266200Pyruvate kinase deficiency of red cells266200C0340968OMIM12821199020609712
HP:0001744HP:0001744Splenomegaly1PNP CL E G H4860613179Purine-nucleoside phosphorylase deficiency613179C0268125OMIM1341397892164050
HP:0001744HP:0001744Splenomegaly1PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM11842359360170280
HP:0001744HP:0001744Splenomegaly1PRKCD CL E G H55801572ORPHA161449399176977
HP:0001744HP:0001744Splenomegaly1PRKCD CL E G H5580615559Autoimmune lymphoproliferative syndrome, type III615559C3809928OMIM161449399176977
HP:0001744HP:0001744Splenomegaly1PSAP CL E G H5660139406ORPHA1272209498176801
HP:0001744HP:0001744Splenomegaly1PSAP CL E G H5660611721Combined saposin deficiency611721C2673635OMIM1272209498176801
HP:0001744HP:0001744Splenomegaly1PSMB8 CL E G H56962615ORPHA111869545177046
HP:0001744HP:0001744Splenomegaly1PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM111869545177046
HP:0001744HP:0001744Splenomegaly1PTPRC CL E G H5788608971Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive608971C1837028OMIM182259666151460
HP:0001744HP:0001744Splenomegaly1RAB27A CL E G H587379477ORPHA1541769766603868
HP:0001744HP:0001744Splenomegaly1RAG1 CL E G H589639041ORPHA11873349831179615
HP:0001744HP:0001744Splenomegaly1RAG1 CL E G H5896231154ORPHA11873349831179615
HP:0001744HP:0001744Splenomegaly1RAG1 CL E G H5896603554Histiocytic medullary reticulosis603554C1801959OMIM11873349831179615
HP:0001744HP:0001744Splenomegaly1RAG2 CL E G H589739041ORPHA1841759832179616
HP:0001744HP:0001744Splenomegaly1RAG2 CL E G H5897603554Histiocytic medullary reticulosis603554C1801959OMIM1841759832179616
HP:0001744HP:0001744Splenomegaly1RHAG CL E G H6005185000Stomatocytosis I185000C1861455OMIM1283110006180297
HP:0001744HP:0001744Splenomegaly1RMRP CL E G H602339041ORPHA112341110031157660
HP:0001744HP:0001744Splenomegaly1RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM12113318518606034
HP:0001744HP:0001744Splenomegaly1RNU4ATAC CL E G H100151683616651Roifman syndrome616651C1846059OMIM1245634016601428
HP:0001744HP:0001744Splenomegaly1RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM15143229168610937
HP:0001744HP:0001744Splenomegaly1RUNX1 CL E G H861521ORPHA110565810471151385
HP:0001744HP:0001744Splenomegaly1SAMD9L CL E G H2192852585ORPHA119721349611170
HP:0001744HP:0001744Splenomegaly1SCARB2 CL E G H95077259ORPHA1272291665602257
HP:0001744HP:0001744Splenomegaly1SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM1115714372607982
HP:0001744HP:0001744Splenomegaly1SEC23B CL E G H10483224100Congenital dyserythropoietic anemia, type II224100C1306589OMIM112614310702610512
HP:0001744HP:0001744Splenomegaly1SGSH CL E G H6448252900Mucopolysaccharidosis, MPS-III-A252900C0086647OMIM114840810818605270
HP:0001744HP:0001744Splenomegaly1SH2B3 CL E G H100193318ORPHA1162929605605093
HP:0001744HP:0001744Splenomegaly1SH2B3 CL E G H10019187950Essential thrombocythemia187950C0040028OMIM1162929605605093
HP:0001744HP:0001744Splenomegaly1SH2B3 CL E G H10019133100Familial erythrocytosis, 1133100C1851490OMIM1162929605605093
HP:0001744HP:0001744Splenomegaly1SH2B3 CL E G H10019254450Myelofibrosis254450C0001815OMIM1162929605605093
HP:0001744HP:0001744Splenomegaly1SH2D1A CL E G H40682442ORPHA113124010820300490
HP:0001744HP:0001744Splenomegaly1SH2D1A CL E G H4068308240Lymphoproliferative syndrome 1, X-linked308240C1868674OMIM113124010820300490
HP:0001744HP:0001744Splenomegaly1SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM15519210933604322
HP:0001744HP:0001744Splenomegaly1SLC29A3 CL E G H55315602782Histiocytosis-lymphadenopathy plus syndrome602782C1864445OMIM12619023096612373
HP:0001744HP:0001744Splenomegaly1SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM128151611005138140
HP:0001744HP:0001744Splenomegaly1SLC30A10 CL E G H55532309854ORPHA1229225355611146
HP:0001744HP:0001744Splenomegaly1SLC39A4 CL E G H55630201100Hereditary acrodermatitis enteropathica201100C0221036OMIM15223617129607059
HP:0001744HP:0001744Splenomegaly1SLC4A1 CL E G H6521185020Pseudohyperkalemia Cardiff185020C1861453OMIM115022711027109270
HP:0001744HP:0001744Splenomegaly1SLC4A1 CL E G H6521612653Spherocytosis type 4612653C2675212OMIM115022711027109270
HP:0001744HP:0001744Splenomegaly1SLC7A7 CL E G H9056222700Lysinuric protein intolerance222700C0268647OMIM16725211065603593
HP:0001744HP:0001744Splenomegaly1SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM125439711120607608
HP:0001744HP:0001744Splenomegaly1SMPD1 CL E G H6609607616Niemann-Pick disease, type B607616C0268243OMIM125439711120607608
HP:0001744HP:0001744Splenomegaly1SNX10 CL E G H29887667ORPHA1134614974614780
HP:0001744HP:0001744Splenomegaly1SNX10 CL E G H29887615085Osteopetrosis, autosomal recessive 8615085C3554478OMIM1134614974614780
HP:0001744HP:0001744Splenomegaly1SPTB CL E G H6710616649Spherocytosis type 2616649C2674219OMIM110321911274182870
HP:0001744HP:0001744Splenomegaly1STEAP3 CL E G H55240615234Hypochromic microcytic anemia with iron overload 2615234C3808920OMIM113724592609671
HP:0001744HP:0001744Splenomegaly1SUMF1 CL E G H285362585ORPHA15526520376607939
HP:0001744HP:0001744Splenomegaly1SUMF1 CL E G H285362272200Multiple sulfatase deficiency272200C0268263OMIM15526520376607939
HP:0001744HP:0001744Splenomegaly1TALDO1 CL E G H6888606003Deficiency of transaldolase606003C1291329OMIM1108811559602063
HP:0001744HP:0001744Splenomegaly1TCF4 CL E G H6925171Le Marec Bracq Picaud syndromeORPHA114862411634602272
HP:0001744HP:0001744Splenomegaly1TCIRG1 CL E G H10312667ORPHA113728911647604592
HP:0001744HP:0001744Splenomegaly1TCIRG1 CL E G H10312259700Osteopetrosis autosomal recessive 1259700C1850127OMIM113728911647604592
HP:0001744HP:0001744Splenomegaly1TET2 CL E G H547903318ORPHA1126725941612839
HP:0001744HP:0001744Splenomegaly1TET2 CL E G H54790729Anti-factor 8 autoimmunizationORPHA1126725941612839
HP:0001744HP:0001744Splenomegaly1THPO CL E G H706671493ORPHA1158811795600044
HP:0001744HP:0001744Splenomegaly1THPO CL E G H7066187950Essential thrombocythemia187950C0040028OMIM1158811795600044
HP:0001744HP:0001744Splenomegaly1TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM117431628396609884
HP:0001744HP:0001744Splenomegaly1TNFRSF13B CL E G H234951572ORPHA15022818153604907
HP:0001744HP:0001744Splenomegaly1TNFRSF13B CL E G H23495240500Common variable immunodeficiency 2240500C3150354OMIM15022818153604907
HP:0001744HP:0001744Splenomegaly1TNFRSF13C CL E G H1156501572ORPHA138217755606269
HP:0001744HP:0001744Splenomegaly1TNFRSF13C CL E G H115650240500Common variable immunodeficiency 2240500C3150354OMIM138217755606269
HP:0001744HP:0001744Splenomegaly1TNFRSF1A CL E G H713232960ORPHA110927911916191190
HP:0001744HP:0001744Splenomegaly1TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA135011917191191
HP:0001744HP:0001744Splenomegaly1TNFRSF4 CL E G H7293615593Immunodeficiency 16615593C3810053OMIM1222211918600315
HP:0001744HP:0001744Splenomegaly1TNFSF11 CL E G H8600667ORPHA11611711926602642
HP:0001744HP:0001744Splenomegaly1TNFSF12 CL E G H87421572ORPHA116711927602695
HP:0001744HP:0001744Splenomegaly1TP53 CL E G H71573318ORPHA1541203511998191170
HP:0001744HP:0001744Splenomegaly1TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM11910412009190450
HP:0001744HP:0001744Splenomegaly1TPP2 CL E G H7174444463ORPHA1419712016190470
HP:0001744HP:0001744Splenomegaly1UMPS CL E G H737230ORPHA11322712563613891
HP:0001744HP:0001744Splenomegaly1UROS CL E G H739079277ORPHA15111512592606938
HP:0001744HP:0001744Splenomegaly1UROS CL E G H7390263700Congenital erythropoietic porphyria263700C0162530OMIM15111512592606938
HP:0001744HP:0001744Splenomegaly1VPS33A CL E G H65082617303Mucopolysaccharidosis-plus syndrome617303C4310627OMIM114618179610034
HP:0001744HP:0001744Splenomegaly1VPS45 CL E G H11311615285Severe congenital neutropenia 5, autosomal recessive615285C3809031OMIM1410214579610035
HP:0001744HP:0001744Splenomegaly1WDR35 CL E G H57539613610Cranioectodermal dysplasia 2613610C3150874OMIM13129229250613602
HP:0001744HP:0001744Splenomegaly1XIAP CL E G H3312442ORPHA199361592300079
HP:0001744HP:0001744Splenomegaly1XIAP CL E G H331308240Lymphoproliferative syndrome 1, X-linked308240C1868674OMIM199361592300079
HP:0001744HP:0001744Splenomegaly1ZAP70 CL E G H7535269840Severe combined immunodeficiency, atypical269840C1849236OMIM13018612858176947
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001744HP:0001744Splenomegaly0ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM0552161839607575
HP:0001744HP:0001744Splenomegaly0AGA CL E G H17593ORPHA038239318613228
HP:0001744HP:0001744Splenomegaly0AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA043189325603100
HP:0001744HP:0001744Splenomegaly0AKT1 CL E G H207744Aortic valves stenosis of the childORPHA012269391164730
HP:0001744HP:0001744Splenomegaly0ALAS2 CL E G H21275563ORPHA0103227397301300
HP:0001744HP:0001744Splenomegaly0ALMS1 CL E G H784064ORPHA03161745428606844
HP:0001744HP:0001744Splenomegaly0ANK1 CL E G H286251066ORPHA0111388492612641
HP:0001744HP:0001744Splenomegaly0ARVCF CL E G H421567ORPHA02477728602269
HP:0001744HP:0001744Splenomegaly0ASAH1 CL E G H427333ORPHA071306735613468
HP:0001744HP:0001744Splenomegaly0ATP6V1B2 CL E G H5263473MeningoencephaloceleORPHA0493854606939
HP:0001744HP:0001744Splenomegaly0ATRX CL E G H546231401ORPHA0170663886300032
HP:0001744HP:0001744Splenomegaly0BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA05026315832606158
HP:0001744HP:0001744Splenomegaly0C4A CL E G H720117ORPHA09271323120810
HP:0001744HP:0001744Splenomegaly0CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA013621527601047
HP:0001744HP:0001744Splenomegaly0CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA015949688603198
HP:0001744HP:0001744Splenomegaly0CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA09658429253612013
HP:0001744HP:0001744Splenomegaly0CCND1 CL E G H59529073ORPHA07101582168461
HP:0001744HP:0001744Splenomegaly0CCR1 CL E G H1230117ORPHA01191602601159
HP:0001744HP:0001744Splenomegaly0CD28 CL E G H9402584ORPHA0271653186760
HP:0001744HP:0001744Splenomegaly0COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM0614118620606976
HP:0001744HP:0001744Splenomegaly0COMT CL E G H1312567ORPHA0155552228116790
HP:0001744HP:0001744Splenomegaly0CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA03454426169613129
HP:0001744HP:0001744Splenomegaly0CTLA4 CL E G H14932584ORPHA0721142505123890
HP:0001744HP:0001744Splenomegaly0CTSK CL E G H1513763ORPHA058972536601105
HP:0001744HP:0001744Splenomegaly0CYBA CL E G H1535379ORPHA0761792577608508
HP:0001744HP:0001744Splenomegaly0CYBB CL E G H1536379ORPHA07823762578300481
HP:0001744HP:0001744Splenomegaly0CYBC1 CL E G H79415379ORPHA0133286720
HP:0001744HP:0001744Splenomegaly0DHCR24 CL E G H171835107ORPHA0101372859606418
HP:0001744HP:0001744Splenomegaly0DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0753222890300126
HP:0001744HP:0001744Splenomegaly0DNASE1L3 CL E G H177636412ORPHA010312959602244
HP:0001744HP:0001744Splenomegaly0ERAP1 CL E G H51752117ORPHA0116718173606832
HP:0001744HP:0001744Splenomegaly0FAH CL E G H2184882Biemond syndrome 2ORPHA01022633579613871
HP:0001744HP:0001744Splenomegaly0FAS CL E G H355117ORPHA014216911920134637
HP:0001744HP:0001744Splenomegaly0FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA02283796164810
HP:0001744HP:0001744Splenomegaly0GLIS3 CL E G H169792610199Diabetes mellitus, neonatal, with congenital hypothyroidism610199C1857775OMIM01946328510610192
HP:0001744HP:0001744Splenomegaly0GP1BB CL E G H2812567ORPHA0534044440138720
HP:0001744HP:0001744Splenomegaly0GPD1 CL E G H2819614480Hypertriglyceridemia, transient infantile614480C3280953OMIM010284455138420
HP:0001744HP:0001744Splenomegaly0HFE CL E G H3077465508ORPHA0611034886613609
HP:0001744HP:0001744Splenomegaly0HIRA CL E G H7290567ORPHA053994916600237
HP:0001744HP:0001744Splenomegaly0HLA-B CL E G H3106117ORPHA053174932142830
HP:0001744HP:0001744Splenomegaly0HLA-DRB1 CL E G H312385414ORPHA026194948142857
HP:0001744HP:0001744Splenomegaly0HPGD CL E G H32482796Familial hypocalciuric hypercalcemiaC1809471ORPHA0181455154601688
HP:0001744HP:0001744Splenomegaly0IFIH1 CL E G H64135615846Aicardi-Goutieres syndrome 7615846C3888244OMIM02828618873606951
HP:0001744HP:0001744Splenomegaly0IL10 CL E G H3586117ORPHA021355962124092
HP:0001744HP:0001744Splenomegaly0IL12A CL E G H3592117ORPHA02265969161560
HP:0001744HP:0001744Splenomegaly0IL12A-AS1 CL E G H101928376117ORPHA013490940
HP:0001744HP:0001744Splenomegaly0IL23R CL E G H149233117ORPHA093719100607562
HP:0001744HP:0001744Splenomegaly0IL6 CL E G H356985414ORPHA09386018147620
HP:0001744HP:0001744Splenomegaly0INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA05432521474613037
HP:0001744HP:0001744Splenomegaly0INPPL1 CL E G H36362746Hoyeraal syndromeORPHA032636080600829
HP:0001744HP:0001744Splenomegaly0JMJD1C CL E G H221037567ORPHA02950912313604503
HP:0001744HP:0001744Splenomegaly0KCNH1 CL E G H37563473MeningoencephaloceleORPHA013916250603305
HP:0001744HP:0001744Splenomegaly0KLRC4 CL E G H8302117ORPHA0366377602893
HP:0001744HP:0001744Splenomegaly0LACC1 CL E G H14481185414ORPHA034926789613409
HP:0001744HP:0001744Splenomegaly0LCAT CL E G H393179292ORPHA0109786522606967
HP:0001744HP:0001744Splenomegaly0LMNA CL E G H4000280365ORPHA057411526636150330
HP:0001744HP:0001744Splenomegaly0LMNA CL E G H40002348ORPHA057411526636150330
HP:0001744HP:0001744Splenomegaly0MEFV CL E G H4210117ORPHA01895616998608107
HP:0001744HP:0001744Splenomegaly0MEFV CL E G H4210342ORPHA01895616998608107
HP:0001744HP:0001744Splenomegaly0MIF CL E G H428285414ORPHA041147097153620
HP:0001744HP:0001744Splenomegaly0MPIG6B CL E G H80739617441Thrombocytopenia, anemia, and myelofibrosis617441C4479504OMIM051613937606520
HP:0001744HP:0001744Splenomegaly0MYD88 CL E G H461533226ORPHA07507562602170
HP:0001744HP:0001744Splenomegaly0NCF1 CL E G H653361379ORPHA048867660608512
HP:0001744HP:0001744Splenomegaly0NCF2 CL E G H4688379ORPHA0791837661608515
HP:0001744HP:0001744Splenomegaly0NCF4 CL E G H4689379ORPHA0131197662601488
HP:0001744HP:0001744Splenomegaly0NHP2 CL E G H556511775Chromosome 4, monosomy 4p14 p16CN036837ORPHA039214377606470
HP:0001744HP:0001744Splenomegaly0NOD2 CL E G H6412790340ORPHA01214425331605956
HP:0001744HP:0001744Splenomegaly0NOP10 CL E G H555051775Chromosome 4, monosomy 4p14 p16CN036837ORPHA016014378606471
HP:0001744HP:0001744Splenomegaly0NOTCH1 CL E G H4851616028Adams-Oliver syndrome 5616028C4014970OMIM012414777881190198
HP:0001744HP:0001744Splenomegaly0NOTCH2 CL E G H4853955ORPHA0813947882600275
HP:0001744HP:0001744Splenomegaly0NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM04787167897607623
HP:0001744HP:0001744Splenomegaly0PARN CL E G H50731775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0291668609604212
HP:0001744HP:0001744Splenomegaly0PEPD CL E G H5184742Aortic dissection lentiginosisORPHA0311298840613230
HP:0001744HP:0001744Splenomegaly0PIEZO1 CL E G H9780194380Xerocytosis194380C0272051OMIM06647828993611184
HP:0001744HP:0001744Splenomegaly0PIK3CD CL E G H5293615513Immunodeficiency 14615513C3714976OMIM0142228977602839
HP:0001744HP:0001744Splenomegaly0PPARG CL E G H546879083ORPHA054909236601487
HP:0001744HP:0001744Splenomegaly0PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA054909236601487
HP:0001744HP:0001744Splenomegaly0PTEN CL E G H57282969ORPHA065820199588601728
HP:0001744HP:0001744Splenomegaly0PTEN CL E G H5728744Aortic valves stenosis of the childORPHA065820199588601728
HP:0001744HP:0001744Splenomegaly0RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA05143229168610937
HP:0001744HP:0001744Splenomegaly0RREB1 CL E G H6239567ORPHA01217110449602209
HP:0001744HP:0001744Splenomegaly0RTEL1 CL E G H517501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA05468415888608833
HP:0001744HP:0001744Splenomegaly0SEC24C CL E G H9632567ORPHA02410705607185
HP:0001744HP:0001744Splenomegaly0SLCO2A1 CL E G H65782796Familial hypocalciuric hypercalcemiaC1809471ORPHA0766510955601460
HP:0001744HP:0001744Splenomegaly0SOX10 CL E G H6663163746ORPHA015119211190602229
HP:0001744HP:0001744Splenomegaly0STAT4 CL E G H6775117ORPHA065011365600558
HP:0001744HP:0001744Splenomegaly0STX11 CL E G H8676603552Hemophagocytic lymphohistiocytosis, familial, 4603552C1863728OMIM02220311429605014
HP:0001744HP:0001744Splenomegaly0TBX1 CL E G H6899567ORPHA08255311592602054
HP:0001744HP:0001744Splenomegaly0TBXAS1 CL E G H69161802DemodicidosisORPHA0139111609274180
HP:0001744HP:0001744Splenomegaly0TERC CL E G H70121775Chromosome 4, monosomy 4p14 p16CN036837ORPHA07418411727602322
HP:0001744HP:0001744Splenomegaly0TERT CL E G H70151775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0173115911730187270
HP:0001744HP:0001744Splenomegaly0TGFB1 CL E G H70401328Chromosome 15 ringCN035931ORPHA0354711766