Human Phenotype Ontology 
Grandparent Node:
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Abnormal 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 H19425ORPHA166429600046
HP:0001744HP:0001744Splenomegaly0ABCA1 CL E G H19425ORPHA157629600046
HP:0001744HP:0001744Splenomegaly0ABCA1 CL E G H19205400Tangier disease205400C0039292OMIM166429600046
HP:0001744HP:0001744Splenomegaly0ABCA1 CL E G H19205400Tangier disease205400C0039292OMIM157629600046
HP:0001744HP:0001744Splenomegaly0ABCB11 CL E G H8647601847Progressive familial intrahepatic cholestasis 2601847C3489789OMIM180842603201
HP:0001744HP:0001744Splenomegaly0ABCB11 CL E G H8647601847Progressive familial intrahepatic cholestasis 2601847C3489789OMIM176242603201
HP:0001744HP:0001744Splenomegaly0ABCB4 CL E G H5244602347Progressive familial intrahepatic cholestasis 3602347C1865643OMIM142545171060
HP:0001744HP:0001744Splenomegaly0ABCB4 CL E G H5244602347Progressive familial intrahepatic cholestasis 3602347C1865643OMIM141245171060
HP:0001744HP:0001744Splenomegaly0ABCD3 CL E G H5825616278Bile acid synthesis defect, congenital, 5616278C4225390OMIM13767170995
HP:0001744HP:0001744Splenomegaly0ABCD3 CL E G H5825616278Bile acid synthesis defect, congenital, 5616278C4225390OMIM12867170995
HP:0001744HP:0001744Splenomegaly0ABCG5 CL E G H64240210250Sitosterolemia210250C0342907OMIM130213886605459
HP:0001744HP:0001744Splenomegaly0ABCG5 CL E G H64240210250Sitosterolemia210250C0342907OMIM127913886605459
HP:0001744HP:0001744Splenomegaly0ABCG8 CL E G H64241210250Sitosterolemia210250C0342907OMIM141713887605460
HP:0001744HP:0001744Splenomegaly0ABCG8 CL E G H64241210250Sitosterolemia210250C0342907OMIM138913887605460
HP:0001744HP:0001744Splenomegaly0ABL1 CL E G H25521ORPHA118876189980
HP:0001744HP:0001744Splenomegaly0ABL1 CL E G H25521ORPHA114776189980
HP:0001744HP:0001744Splenomegaly0ADA CL E G H10039041ORPHA1387186608958
HP:0001744HP:0001744Splenomegaly0ADA CL E G H10039041ORPHA1341186608958
HP:0001744HP:0001744Splenomegaly0ADA CL E G H100102700Severe combined immunodeficiency due to ADA deficiency102700C1863236OMIM1387186608958
HP:0001744HP:0001744Splenomegaly0ADA CL E G H100102700Severe combined immunodeficiency due to ADA deficiency102700C1863236OMIM1341186608958
HP:0001744HP:0001744Splenomegaly0ADAMTS3 CL E G H95082136Epidermal nevus vitamin D resistant ricketsORPHA145219605011
HP:0001744HP:0001744Splenomegaly0ADAMTS3 CL E G H95082136Epidermal nevus vitamin D resistant ricketsORPHA143219605011
HP:0001744HP:0001744Splenomegaly0AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1205325603100
HP:0001744HP:0001744Splenomegaly0AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1203325603100
HP:0001744HP:0001744Splenomegaly0AKR1D1 CL E G H671879303ORPHA1202388604741
HP:0001744HP:0001744Splenomegaly0AKR1D1 CL E G H671879303ORPHA1206388604741
HP:0001744HP:0001744Splenomegaly0AKR1D1 CL E G H6718235555Bile acid synthesis defect, congenital, 2235555C1856127OMIM1206388604741
HP:0001744HP:0001744Splenomegaly0AKR1D1 CL E G H6718235555Bile acid synthesis defect, congenital, 2235555C1856127OMIM1202388604741
HP:0001744HP:0001744Splenomegaly0AKT1 CL E G H207176920Proteus syndrome176920C0085261OMIM1417391164730
HP:0001744HP:0001744Splenomegaly0AKT1 CL E G H207176920Proteus syndrome176920C0085261OMIM1380391164730
HP:0001744HP:0001744Splenomegaly0ALDOA CL E G H226611881HNSHA due to aldolase A deficiency611881C0272066OMIM1381414103850
HP:0001744HP:0001744Splenomegaly0ALDOA CL E G H226611881HNSHA due to aldolase A deficiency611881C0272066OMIM1353414103850
HP:0001744HP:0001744Splenomegaly0ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM139118294605907
HP:0001744HP:0001744Splenomegaly0ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM126018294605907
HP:0001744HP:0001744Splenomegaly0ANK1 CL E G H286182900Spherocytosis type 1182900C2674218OMIM1604492612641
HP:0001744HP:0001744Splenomegaly0ANK1 CL E G H286182900Spherocytosis type 1182900C2674218OMIM1567492612641
HP:0001744HP:0001744Splenomegaly0AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM1467566603401
HP:0001744HP:0001744Splenomegaly0AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM1356566603401
HP:0001744HP:0001744Splenomegaly0AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1394568607246
HP:0001744HP:0001744Splenomegaly0AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1226568607246
HP:0001744HP:0001744Splenomegaly0APOA1 CL E G H335425ORPHA1126600107680
HP:0001744HP:0001744Splenomegaly0APOA1 CL E G H335425ORPHA199600107680
HP:0001744HP:0001744Splenomegaly0APOA1 CL E G H335105200Familial visceral amyloidosis, Ostertag type105200C0268389OMIM1126600107680
HP:0001744HP:0001744Splenomegaly0APOA1 CL E G H335105200Familial visceral amyloidosis, Ostertag type105200C0268389OMIM199600107680
HP:0001744HP:0001744Splenomegaly0APOC2 CL E G H344207750Apolipoprotein C2 deficiency207750C1720779OMIM159609608083
HP:0001744HP:0001744Splenomegaly0APOC2 CL E G H344207750Apolipoprotein C2 deficiency207750C1720779OMIM157609608083
HP:0001744HP:0001744Splenomegaly0APOE CL E G H348158029ORPHA180613107741
HP:0001744HP:0001744Splenomegaly0APOE CL E G H348158029ORPHA178613107741
HP:0001744HP:0001744Splenomegaly0APOE CL E G H348269600Sea-blue histiocyte syndrome269600C0036489OMIM180613107741
HP:0001744HP:0001744Splenomegaly0APOE CL E G H348269600Sea-blue histiocyte syndrome269600C0036489OMIM178613107741
HP:0001744HP:0001744Splenomegaly0ARSB CL E G H411253200Mucopolysaccharidosis type VI253200C0026709OMIM1625714611542
HP:0001744HP:0001744Splenomegaly0ARSB CL E G H411253200Mucopolysaccharidosis type VI253200C0026709OMIM1583714611542
HP:0001744HP:0001744Splenomegaly0ASAH1 CL E G H427228000Farber disease228000C0268255OMIM1593735613468
HP:0001744HP:0001744Splenomegaly0ASAH1 CL E G H427228000Farber disease228000C0268255OMIM1420735613468
HP:0001744HP:0001744Splenomegaly0ATM CL E G H47252416ORPHA110320795607585
HP:0001744HP:0001744Splenomegaly0ATM CL E G H47252416ORPHA111382795607585
HP:0001744HP:0001744Splenomegaly0ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM1291868300197
HP:0001744HP:0001744Splenomegaly0ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM1262868300197
HP:0001744HP:0001744Splenomegaly0ATP7B CL E G H540905ORPHA11579870606882
HP:0001744HP:0001744Splenomegaly0ATP7B CL E G H540905ORPHA11389870606882
HP:0001744HP:0001744Splenomegaly0ATP8B1 CL E G H5205211600Progressive intrahepatic cholestasis211600C0268312OMIM14963706602397
HP:0001744HP:0001744Splenomegaly0ATP8B1 CL E G H5205211600Progressive intrahepatic cholestasis211600C0268312OMIM14943706602397
HP:0001744HP:0001744Splenomegaly0B2M CL E G H567105200Familial visceral amyloidosis, Ostertag type105200C0268389OMIM139914109700
HP:0001744HP:0001744Splenomegaly0B2M CL E G H567105200Familial visceral amyloidosis, Ostertag type105200C0268389OMIM132914109700
HP:0001744HP:0001744Splenomegaly0BCL2 CL E G H596545Adducted thumbs Dundar typeORPHA191990151430
HP:0001744HP:0001744Splenomegaly0BCL2 CL E G H596545Adducted thumbs Dundar typeORPHA189990151430
HP:0001744HP:0001744Splenomegaly0BCL6 CL E G H604545Adducted thumbs Dundar typeORPHA1591001109565
HP:0001744HP:0001744Splenomegaly0BCR CL E G H613521ORPHA12171014151410
HP:0001744HP:0001744Splenomegaly0BCR CL E G H613521ORPHA12141014151410
HP:0001744HP:0001744Splenomegaly0BPGM CL E G H669222800Deficiency of bisphosphoglycerate mutase222800C1291620OMIM1401093613896
HP:0001744HP:0001744Splenomegaly0BPGM CL E G H669222800Deficiency of bisphosphoglycerate mutase222800C1291620OMIM1371093613896
HP:0001744HP:0001744Splenomegaly0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM16801097164757
HP:0001744HP:0001744Splenomegaly0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM16181097164757
HP:0001744HP:0001744Splenomegaly0BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM137315832606158
HP:0001744HP:0001744Splenomegaly0BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM133015832606158
HP:0001744HP:0001744Splenomegaly0BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM14091122609019
HP:0001744HP:0001744Splenomegaly0BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM13661122609019
HP:0001744HP:0001744Splenomegaly0C15orf41 CL E G H84529615631ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib615631C3810185OMIM126929615626
HP:0001744HP:0001744Splenomegaly0CA2 CL E G H7602785ORPHA11191373611492
HP:0001744HP:0001744Splenomegaly0CA2 CL E G H7602785ORPHA11041373611492
HP:0001744HP:0001744Splenomegaly0CALR CL E G H8113318ORPHA1431455109091
HP:0001744HP:0001744Splenomegaly0CALR CL E G H8113318ORPHA1391455109091
HP:0001744HP:0001744Splenomegaly0CALR CL E G H811187950Essential thrombocythemia187950C0040028OMIM1431455109091
HP:0001744HP:0001744Splenomegaly0CALR CL E G H811187950Essential thrombocythemia187950C0040028OMIM1391455109091
HP:0001744HP:0001744Splenomegaly0CALR CL E G H811254450Myelofibrosis254450C0001815OMIM1431455109091
HP:0001744HP:0001744Splenomegaly0CALR CL E G H811254450Myelofibrosis254450C0001815OMIM1391455109091
HP:0001744HP:0001744Splenomegaly0CARD11 CL E G H84433616452B-cell expansion with NFKB and T-cell anergy616452CN231446OMIM154016393607210
HP:0001744HP:0001744Splenomegaly0CARD11 CL E G H84433616452B-cell expansion with NFKB and T-cell anergy616452CN231446OMIM145016393607210
HP:0001744HP:0001744Splenomegaly0CASP10 CL E G H843603909Autoimmune lymphoproliferative syndrome, type 2A603909C1858968OMIM13461500601762
HP:0001744HP:0001744Splenomegaly0CASP10 CL E G H843603909Autoimmune lymphoproliferative syndrome, type 2A603909C1858968OMIM12971500601762
HP:0001744HP:0001744Splenomegaly0CASP8 CL E G H841607271Caspase-8 deficiency607271C1846545OMIM12301509601763
HP:0001744HP:0001744Splenomegaly0CASP8 CL E G H841607271Caspase-8 deficiency607271C1846545OMIM11941509601763
HP:0001744HP:0001744Splenomegaly0CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA115691514601199
HP:0001744HP:0001744Splenomegaly0CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA113181514601199
HP:0001744HP:0001744Splenomegaly0CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM115691514601199
HP:0001744HP:0001744Splenomegaly0CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM113181514601199
HP:0001744HP:0001744Splenomegaly0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0001744HP:0001744Splenomegaly0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0001744HP:0001744Splenomegaly0CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1106429253612013
HP:0001744HP:0001744Splenomegaly0CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM188129253612013
HP:0001744HP:0001744Splenomegaly0CCBE1 CL E G H1473722136Epidermal nevus vitamin D resistant ricketsORPHA141329426612753
HP:0001744HP:0001744Splenomegaly0CCBE1 CL E G H1473722136Epidermal nevus vitamin D resistant ricketsORPHA134929426612753
HP:0001744HP:0001744Splenomegaly0CCDC115 CL E G H84317616828CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo616828C4225191OMIM16428178613734
HP:0001744HP:0001744Splenomegaly0CCDC115 CL E G H84317616828CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo616828C4225191OMIM15628178613734
HP:0001744HP:0001744Splenomegaly0CCND1 CL E G H59552416ORPHA1171582168461
HP:0001744HP:0001744Splenomegaly0CCND1 CL E G H59552416ORPHA1191582168461
HP:0001744HP:0001744Splenomegaly0CD19 CL E G H9301572ORPHA12721633107265
HP:0001744HP:0001744Splenomegaly0CD19 CL E G H9301572ORPHA12231633107265
HP:0001744HP:0001744Splenomegaly0CD19 CL E G H930240500Common variable immunodeficiency 2240500C3150354OMIM12721633107265
HP:0001744HP:0001744Splenomegaly0CD19 CL E G H930240500Common variable immunodeficiency 2240500C3150354OMIM12231633107265
HP:0001744HP:0001744Splenomegaly0CD27 CL E G H939615122Lymphoproliferative syndrome 2615122C3554540OMIM116811922186711
HP:0001744HP:0001744Splenomegaly0CD27 CL E G H939615122Lymphoproliferative syndrome 2615122C3554540OMIM114111922186711
HP:0001744HP:0001744Splenomegaly0CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA1301653186760
HP:0001744HP:0001744Splenomegaly0CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA1281653186760
HP:0001744HP:0001744Splenomegaly0CD40LG CL E G H959308230Immunodeficiency with hyper IgM type 1308230C0398689OMIM132811935300386
HP:0001744HP:0001744Splenomegaly0CD40LG CL E G H959308230Immunodeficiency with hyper IgM type 1308230C0398689OMIM130911935300386
HP:0001744HP:0001744Splenomegaly0CD81 CL E G H9751572ORPHA11071701186845
HP:0001744HP:0001744Splenomegaly0CD81 CL E G H9751572ORPHA1771701186845
HP:0001744HP:0001744Splenomegaly0CDAN1 CL E G H146059224120Congenital dyserythropoietic anemia, type I224120C0271933OMIM12561713607465
HP:0001744HP:0001744Splenomegaly0CDAN1 CL E G H146059224120Congenital dyserythropoietic anemia, type I224120C0271933OMIM12421713607465
HP:0001744HP:0001744Splenomegaly0CHD7 CL E G H5563639041ORPHA1198020626608892
HP:0001744HP:0001744Splenomegaly0CHD7 CL E G H5563639041ORPHA1175220626608892
HP:0001744HP:0001744Splenomegaly0CLCN7 CL E G H1186667ORPHA15492025602727
HP:0001744HP:0001744Splenomegaly0CLCN7 CL E G H1186667ORPHA13882025602727
HP:0001744HP:0001744Splenomegaly0CLDN1 CL E G H907659303ORPHA1902032603718
HP:0001744HP:0001744Splenomegaly0CLDN1 CL E G H907659303ORPHA1932032603718
HP:0001744HP:0001744Splenomegaly0COX4I2 CL E G H84701612714Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis612714C2675184OMIM15116232607976
HP:0001744HP:0001744Splenomegaly0COX4I2 CL E G H84701612714Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis612714C2675184OMIM14616232607976
HP:0001744HP:0001744Splenomegaly0CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM11972321612732
HP:0001744HP:0001744Splenomegaly0CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM11692321612732
HP:0001744HP:0001744Splenomegaly0CR2 CL E G H13801572ORPHA14532336120650
HP:0001744HP:0001744Splenomegaly0CR2 CL E G H13801572ORPHA13582336120650
HP:0001744HP:0001744Splenomegaly0CR2 CL E G H1380240500Common variable immunodeficiency 2240500C3150354OMIM14532336120650
HP:0001744HP:0001744Splenomegaly0CR2 CL E G H1380240500Common variable immunodeficiency 2240500C3150354OMIM13582336120650
HP:0001744HP:0001744Splenomegaly0CTLA4 CL E G H1493616100Autoimmune lymphoproliferatiVe syndrome, type V616100C4015214OMIM11722505123890
HP:0001744HP:0001744Splenomegaly0CTLA4 CL E G H1493616100Autoimmune lymphoproliferatiVe syndrome, type V616100C4015214OMIM11462505123890
HP:0001744HP:0001744Splenomegaly0CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA11722505123890
HP:0001744HP:0001744Splenomegaly0CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA11462505123890
HP:0001744HP:0001744Splenomegaly0CTNS CL E G H1497219800Nephropathic cystinosis219800C0010690OMIM15912518606272
HP:0001744HP:0001744Splenomegaly0CTNS CL E G H1497219800Nephropathic cystinosis219800C0010690OMIM15502518606272
HP:0001744HP:0001744Splenomegaly0CYBA CL E G H1535233690Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative233690C1856255OMIM13422577608508
HP:0001744HP:0001744Splenomegaly0CYBA CL E G H1535233690Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative233690C1856255OMIM13052577608508
HP:0001744HP:0001744Splenomegaly0CYBB CL E G H1536306400Chronic granulomatous disease, X-linked306400C1844376OMIM15682578300481
HP:0001744HP:0001744Splenomegaly0CYBB CL E G H1536306400Chronic granulomatous disease, X-linked306400C1844376OMIM15282578300481
HP:0001744HP:0001744Splenomegaly0CYP7B1 CL E G H942079302ORPHA12392652603711
HP:0001744HP:0001744Splenomegaly0CYP7B1 CL E G H942079302ORPHA12952652603711
HP:0001744HP:0001744Splenomegaly0CYP7B1 CL E G H9420613812Bile acid synthesis defect, congenital, 3613812C3151147OMIM12952652603711
HP:0001744HP:0001744Splenomegaly0CYP7B1 CL E G H9420613812Bile acid synthesis defect, congenital, 3613812C3151147OMIM12392652603711
HP:0001744HP:0001744Splenomegaly0DCDC2 CL E G H51473616217Nephronophthisis 19616217C4015542OMIM118718141605755
HP:0001744HP:0001744Splenomegaly0DCDC2 CL E G H51473616217Nephronophthisis 19616217C4015542OMIM117218141605755
HP:0001744HP:0001744Splenomegaly0DCDC2 CL E G H51473617394Sclerosing cholangitis, neonatal617394C4479344OMIM118718141605755
HP:0001744HP:0001744Splenomegaly0DCDC2 CL E G H51473617394Sclerosing cholangitis, neonatal617394C4479344OMIM117218141605755
HP:0001744HP:0001744Splenomegaly0DCLRE1C CL E G H6442139041ORPHA159417642605988
HP:0001744HP:0001744Splenomegaly0DCLRE1C CL E G H6442139041ORPHA150917642605988
HP:0001744HP:0001744Splenomegaly0DCLRE1C CL E G H64421603554Histiocytic medullary reticulosis603554C1801959OMIM159417642605988
HP:0001744HP:0001744Splenomegaly0DCLRE1C CL E G H64421603554Histiocytic medullary reticulosis603554C1801959OMIM150917642605988
HP:0001744HP:0001744Splenomegaly0DDRGK1 CL E G H6599293352ORPHA16516110616177
HP:0001744HP:0001744Splenomegaly0DDRGK1 CL E G H6599293352ORPHA14316110616177
HP:0001744HP:0001744Splenomegaly0DDRGK1 CL E G H65992602557Spondyloepimetaphyseal dysplasia Shohat type602557C1865185OMIM16516110616177
HP:0001744HP:0001744Splenomegaly0DDRGK1 CL E G H65992602557Spondyloepimetaphyseal dysplasia Shohat type602557C1865185OMIM14316110616177
HP:0001744HP:0001744Splenomegaly0DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM11562858601465
HP:0001744HP:0001744Splenomegaly0DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM11402858601465
HP:0001744HP:0001744Splenomegaly0DGUOK CL E G H1716617068Portal hypertension, noncirrhotic617068C4310735OMIM11562858601465
HP:0001744HP:0001744Splenomegaly0DGUOK CL E G H1716617068Portal hypertension, noncirrhotic617068C4310735OMIM11402858601465
HP:0001744HP:0001744Splenomegaly0DOLK CL E G H2284591131ORPHA135423406610746
HP:0001744HP:0001744Splenomegaly0DOLK CL E G H2284591131ORPHA128623406610746
HP:0001744HP:0001744Splenomegaly0DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM11883005603503
HP:0001744HP:0001744Splenomegaly0DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM11563005603503
HP:0001744HP:0001744Splenomegaly0DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM130024595617083
HP:0001744HP:0001744Splenomegaly0DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM126224595617083
HP:0001744HP:0001744Splenomegaly0ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM19463438609413
HP:0001744HP:0001744Splenomegaly0ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM18253438609413
HP:0001744HP:0001744Splenomegaly0ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM13433439609412
HP:0001744HP:0001744Splenomegaly0ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM13103439609412
HP:0001744HP:0001744Splenomegaly0F5 CL E G H2153131Myeloid sarcomaORPHA14533542612309
HP:0001744HP:0001744Splenomegaly0F5 CL E G H2153131Myeloid sarcomaORPHA14493542612309
HP:0001744HP:0001744Splenomegaly0FAH CL E G H2184276700Tyrosinemia type I276700C0268490OMIM14413579613871
HP:0001744HP:0001744Splenomegaly0FAH CL E G H2184276700Tyrosinemia type I276700C0268490OMIM14173579613871
HP:0001744HP:0001744Splenomegaly0FAS CL E G H355601859Autoimmune lymphoproliferative syndrome601859C1328840OMIM127511920134637
HP:0001744HP:0001744Splenomegaly0FAS CL E G H355601859Autoimmune lymphoproliferative syndrome601859C1328840OMIM122711920134637
HP:0001744HP:0001744Splenomegaly0FASLG CL E G H356601859Autoimmune lymphoproliferative syndrome601859C1328840OMIM114711936134638
HP:0001744HP:0001744Splenomegaly0FASLG CL E G H356601859Autoimmune lymphoproliferative syndrome601859C1328840OMIM112611936134638
HP:0001744HP:0001744Splenomegaly0FAT4 CL E G H796332136Epidermal nevus vitamin D resistant ricketsORPHA198923109612411
HP:0001744HP:0001744Splenomegaly0FAT4 CL E G H796332136Epidermal nevus vitamin D resistant ricketsORPHA151923109612411
HP:0001744HP:0001744Splenomegaly0FERMT3 CL E G H83706612840Leukocyte adhesion deficiency, type III612840C2748536OMIM128623151607901
HP:0001744HP:0001744Splenomegaly0FERMT3 CL E G H83706612840Leukocyte adhesion deficiency, type III612840C2748536OMIM122823151607901
HP:0001744HP:0001744Splenomegaly0FGA CL E G H2243105200Familial visceral amyloidosis, Ostertag type105200C0268389OMIM11493661134820
HP:0001744HP:0001744Splenomegaly0FGA CL E G H2243105200Familial visceral amyloidosis, Ostertag type105200C0268389OMIM11433661134820
HP:0001744HP:0001744Splenomegaly0FMO3 CL E G H2328602079Trimethylaminuria602079C0342739OMIM11143771136132
HP:0001744HP:0001744Splenomegaly0FUCA1 CL E G H2517230000Fucosidosis230000C0016788OMIM11884006612280
HP:0001744HP:0001744Splenomegaly0FUCA1 CL E G H2517230000Fucosidosis230000C0016788OMIM11374006612280
HP:0001744HP:0001744Splenomegaly0G6PC3 CL E G H92579612541Severe congenital neutropenia 4, autosomal recessive612541C2675526OMIM119824861611045
HP:0001744HP:0001744Splenomegaly0G6PC3 CL E G H92579612541Severe congenital neutropenia 4, autosomal recessive612541C2675526OMIM115924861611045
HP:0001744HP:0001744Splenomegaly0GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM117844065606800
HP:0001744HP:0001744Splenomegaly0GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM115924065606800
HP:0001744HP:0001744Splenomegaly0GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11414116606953
HP:0001744HP:0001744Splenomegaly0GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11324116606953
HP:0001744HP:0001744Splenomegaly0GATA1 CL E G H262379277ORPHA12834170305371
HP:0001744HP:0001744Splenomegaly0GATA1 CL E G H2623231393ORPHA13044170305371
HP:0001744HP:0001744Splenomegaly0GATA1 CL E G H2623231393ORPHA12834170305371
HP:0001744HP:0001744Splenomegaly0GATA1 CL E G H262379277ORPHA13044170305371
HP:0001744HP:0001744Splenomegaly0GATA1 CL E G H2623314050Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis314050C1839161OMIM13044170305371
HP:0001744HP:0001744Splenomegaly0GATA1 CL E G H2623314050Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis314050C1839161OMIM12834170305371
HP:0001744HP:0001744Splenomegaly0GATA2 CL E G H26243226Lethal chondrodysplasia Seller typeORPHA19884171137295
HP:0001744HP:0001744Splenomegaly0GATA2 CL E G H26243226Lethal chondrodysplasia Seller typeORPHA18494171137295
HP:0001744HP:0001744Splenomegaly0GBA CL E G H262977259ORPHA12614177606463
HP:0001744HP:0001744Splenomegaly0GBA CL E G H262985212ORPHA12614177606463
HP:0001744HP:0001744Splenomegaly0GBA CL E G H262977260ORPHA12614177606463
HP:0001744HP:0001744Splenomegaly0GBA CL E G H262977261ORPHA12614177606463
HP:0001744HP:0001744Splenomegaly0GBA CL E G H26292072ORPHA12694177606463
HP:0001744HP:0001744Splenomegaly0GBA CL E G H262977259ORPHA12694177606463
HP:0001744HP:0001744Splenomegaly0GBA CL E G H262985212ORPHA12694177606463
HP:0001744HP:0001744Splenomegaly0GBA CL E G H262977260ORPHA12694177606463
HP:0001744HP:0001744Splenomegaly0GBA CL E G H262977261ORPHA12694177606463
HP:0001744HP:0001744Splenomegaly0GBA CL E G H26292072ORPHA12614177606463
HP:0001744HP:0001744Splenomegaly0GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM12694177606463
HP:0001744HP:0001744Splenomegaly0GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM12614177606463
HP:0001744HP:0001744Splenomegaly0GBA CL E G H2629231005Gaucher disease type 3C231005C1856476OMIM12694177606463
HP:0001744HP:0001744Splenomegaly0GBA CL E G H2629231005Gaucher disease type 3C231005C1856476OMIM12614177606463
HP:0001744HP:0001744Splenomegaly0GBA CL E G H2629608013Gaucher disease, perinatal lethal608013C1842704OMIM12694177606463
HP:0001744HP:0001744Splenomegaly0GBA CL E G H2629608013Gaucher disease, perinatal lethal608013C1842704OMIM12614177606463
HP:0001744HP:0001744Splenomegaly0GBA CL E G H2629230800Gaucher's disease, type 1230800C1961835OMIM12694177606463
HP:0001744HP:0001744Splenomegaly0GBA CL E G H2629230800Gaucher's disease, type 1230800C1961835OMIM12614177606463
HP:0001744HP:0001744Splenomegaly0GBA CL E G H2629231000Subacute neuronopathic Gaucher's disease231000C0268251OMIM12694177606463
HP:0001744HP:0001744Splenomegaly0GBA CL E G H2629231000Subacute neuronopathic Gaucher's disease231000C0268251OMIM12614177606463
HP:0001744HP:0001744Splenomegaly0GFI1B CL E G H8328721ORPHA1944238604383
HP:0001744HP:0001744Splenomegaly0GFI1B CL E G H8328721ORPHA1874238604383
HP:0001744HP:0001744Splenomegaly0GLB1 CL E G H2720230500Infantile GM1 gangliosidosis230500C0268271OMIM15964298611458
HP:0001744HP:0001744Splenomegaly0GLB1 CL E G H2720230500Infantile GM1 gangliosidosis230500C0268271OMIM15074298611458
HP:0001744HP:0001744Splenomegaly0GLRX5 CL E G H51218616860Sideroblastic anemia 3, pyridoxine-refractory616860C4225155OMIM16820134609588
HP:0001744HP:0001744Splenomegaly0GLRX5 CL E G H51218616860Sideroblastic anemia 3, pyridoxine-refractory616860C4225155OMIM16020134609588
HP:0001744HP:0001744Splenomegaly0GNE CL E G H10020269921Sialuria269921C0342853OMIM168223657603824
HP:0001744HP:0001744Splenomegaly0GNE CL E G H10020269921Sialuria269921C0342853OMIM160423657603824
HP:0001744HP:0001744Splenomegaly0GNPTAB CL E G H79158576ORPHA182829670607840
HP:0001744HP:0001744Splenomegaly0GNPTAB CL E G H79158576ORPHA173029670607840
HP:0001744HP:0001744Splenomegaly0GNPTAB CL E G H79158252500I cell disease252500C2673377OMIM182829670607840
HP:0001744HP:0001744Splenomegaly0GNPTAB CL E G H79158252500I cell disease252500C2673377OMIM173029670607840
HP:0001744HP:0001744Splenomegaly0GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM13404422607664
HP:0001744HP:0001744Splenomegaly0GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM12774422607664
HP:0001744HP:0001744Splenomegaly0GP1BA CL E G H2811153670Bernard-Soulier syndrome, type A2, autosomal dominant153670C3277076OMIM1964439606672
HP:0001744HP:0001744Splenomegaly0GP1BA CL E G H2811153670Bernard-Soulier syndrome, type A2, autosomal dominant153670C3277076OMIM1904439606672
HP:0001744HP:0001744Splenomegaly0GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA17834451300037
HP:0001744HP:0001744Splenomegaly0GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA16944451300037
HP:0001744HP:0001744Splenomegaly0GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM17834451300037
HP:0001744HP:0001744Splenomegaly0GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM16944451300037
HP:0001744HP:0001744Splenomegaly0GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA12174452300168
HP:0001744HP:0001744Splenomegaly0GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA12124452300168
HP:0001744HP:0001744Splenomegaly0GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM12174452300168
HP:0001744HP:0001744Splenomegaly0GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM12124452300168
HP:0001744HP:0001744Splenomegaly0GPI CL E G H2821613470Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency613470C3150730OMIM1774458172400
HP:0001744HP:0001744Splenomegaly0GPI CL E G H2821613470Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency613470C3150730OMIM1694458172400
HP:0001744HP:0001744Splenomegaly0GPIHBP1 CL E G H338328615947Hyperlipoproteinemia, type ID615947C4014767OMIM110424945612757
HP:0001744HP:0001744Splenomegaly0GPIHBP1 CL E G H338328615947Hyperlipoproteinemia, type ID615947C4014767OMIM19524945612757
HP:0001744HP:0001744Splenomegaly0GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA11224492602646
HP:0001744HP:0001744Splenomegaly0GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA11154492602646
HP:0001744HP:0001744Splenomegaly0GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA12304696611499
HP:0001744HP:0001744Splenomegaly0GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA11934696611499
HP:0001744HP:0001744Splenomegaly0GUSB CL E G H2990253220Mucopolysaccharidosis type VII253220C0085132OMIM12304696611499
HP:0001744HP:0001744Splenomegaly0GUSB CL E G H2990253220Mucopolysaccharidosis type VII253220C0085132OMIM11934696611499
HP:0001744HP:0001744Splenomegaly0HAMP CL E G H57817613313Hemochromatosis type 2B613313C1865616OMIM16115598606464
HP:0001744HP:0001744Splenomegaly0HAMP CL E G H57817613313Hemochromatosis type 2B613313C1865616OMIM15215598606464
HP:0001744HP:0001744Splenomegaly0HBA1 CL E G H3039163596ORPHA13754823141800
HP:0001744HP:0001744Splenomegaly0HBA1 CL E G H3039163596ORPHA13694823141800
HP:0001744HP:0001744Splenomegaly0HBA1 CL E G H3039613978Hemoglobin H613978C3161174OMIM13754823141800
HP:0001744HP:0001744Splenomegaly0HBA1 CL E G H3039613978Hemoglobin H613978C3161174OMIM13694823141800
HP:0001744HP:0001744Splenomegaly0HBA2 CL E G H3040163596ORPHA13204824141850
HP:0001744HP:0001744Splenomegaly0HBA2 CL E G H3040163596ORPHA13034824141850
HP:0001744HP:0001744Splenomegaly0HBA2 CL E G H3040613978Hemoglobin H613978C3161174OMIM13204824141850
HP:0001744HP:0001744Splenomegaly0HBA2 CL E G H3040613978Hemoglobin H613978C3161174OMIM13034824141850
HP:0001744HP:0001744Splenomegaly0HBB CL E G H304346532ORPHA112704827141900
HP:0001744HP:0001744Splenomegaly0HBB CL E G H3043231226ORPHA112834827141900
HP:0001744HP:0001744Splenomegaly0HBB CL E G H3043231242ORPHA112834827141900
HP:0001744HP:0001744Splenomegaly0HBB CL E G H3043231222ORPHA112834827141900
HP:0001744HP:0001744Splenomegaly0HBB CL E G H3043231226ORPHA112704827141900
HP:0001744HP:0001744Splenomegaly0HBB CL E G H3043231242ORPHA112704827141900
HP:0001744HP:0001744Splenomegaly0HBB CL E G H3043231222ORPHA112704827141900
HP:0001744HP:0001744Splenomegaly0HBB CL E G H304346532ORPHA112834827141900
HP:0001744HP:0001744Splenomegaly0HBB CL E G H3043603903Hb SS disease603903C0002895OMIM112834827141900
HP:0001744HP:0001744Splenomegaly0HBB CL E G H3043603903Hb SS disease603903C0002895OMIM112704827141900
HP:0001744HP:0001744Splenomegaly0HBG1 CL E G H304746532ORPHA1584831142200
HP:0001744HP:0001744Splenomegaly0HBG1 CL E G H304746532ORPHA1664831142200
HP:0001744HP:0001744Splenomegaly0HBG2 CL E G H304846532ORPHA1734832142250
HP:0001744HP:0001744Splenomegaly0HBG2 CL E G H304846532ORPHA1754832142250
HP:0001744HP:0001744Splenomegaly0HFE CL E G H3077235200Hemochromatosis type 1235200C3469186OMIM11574886613609
HP:0001744HP:0001744Splenomegaly0HFE CL E G H3077235200Hemochromatosis type 1235200C3469186OMIM11494886613609
HP:0001744HP:0001744Splenomegaly0HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM169826527610453
HP:0001744HP:0001744Splenomegaly0HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM159426527610453
HP:0001744HP:0001744Splenomegaly0HJV CL E G H148738602390Hemochromatosis type 2A602390C1865614OMIM13694887608374
HP:0001744HP:0001744Splenomegaly0HJV CL E G H148738602390Hemochromatosis type 2A602390C1865614OMIM13384887608374
HP:0001744HP:0001744Splenomegaly0HK1 CL E G H3098235700Hemolytic anemia due to hexokinase deficiency235700C0472792OMIM13104922142600
HP:0001744HP:0001744Splenomegaly0HK1 CL E G H3098235700Hemolytic anemia due to hexokinase deficiency235700C0472792OMIM12344922142600
HP:0001744HP:0001744Splenomegaly0HLA-DRB1 CL E G H3123545Adducted thumbs Dundar typeORPHA1244948142857
HP:0001744HP:0001744Splenomegaly0HSD3B7 CL E G H8027079301ORPHA110218324607764
HP:0001744HP:0001744Splenomegaly0HSD3B7 CL E G H8027079301ORPHA110918324607764
HP:0001744HP:0001744Splenomegaly0HSD3B7 CL E G H80270607765Bile acid synthesis defect, congenital, 1607765C1843116OMIM110918324607764
HP:0001744HP:0001744Splenomegaly0HSD3B7 CL E G H80270607765Bile acid synthesis defect, congenital, 1607765C1843116OMIM110218324607764
HP:0001744HP:0001744Splenomegaly0ICOS CL E G H298511572ORPHA11545351604558
HP:0001744HP:0001744Splenomegaly0ICOS CL E G H298511572ORPHA11375351604558
HP:0001744HP:0001744Splenomegaly0ICOS CL E G H29851607594Common variable immunodeficiency 1607594C3149378OMIM11545351604558
HP:0001744HP:0001744Splenomegaly0ICOS CL E G H29851607594Common variable immunodeficiency 1607594C3149378OMIM11375351604558
HP:0001744HP:0001744Splenomegaly0ICOS CL E G H29851240500Common variable immunodeficiency 2240500C3150354OMIM11545351604558
HP:0001744HP:0001744Splenomegaly0ICOS CL E G H29851240500Common variable immunodeficiency 2240500C3150354OMIM11375351604558
HP:0001744HP:0001744Splenomegaly0IDS CL E G H3423309900Mucopolysaccharidosis, MPS-II309900C0026705OMIM16825389300823
HP:0001744HP:0001744Splenomegaly0IDS CL E G H3423309900Mucopolysaccharidosis, MPS-II309900C0026705OMIM16455389300823
HP:0001744HP:0001744Splenomegaly0IDUA CL E G H342593474ORPHA111145391252800
HP:0001744HP:0001744Splenomegaly0IDUA CL E G H342593476ORPHA111145391252800
HP:0001744HP:0001744Splenomegaly0IDUA CL E G H342593473ORPHA111145391252800
HP:0001744HP:0001744Splenomegaly0IDUA CL E G H342593474ORPHA19715391252800
HP:0001744HP:0001744Splenomegaly0IDUA CL E G H342593476ORPHA19715391252800
HP:0001744HP:0001744Splenomegaly0IDUA CL E G H342593473ORPHA19715391252800
HP:0001744HP:0001744Splenomegaly0IDUA CL E G H3425607014Dysostosis multiplex607014C0086795OMIM111145391252800
HP:0001744HP:0001744Splenomegaly0IDUA CL E G H3425607014Dysostosis multiplex607014C0086795OMIM19715391252800
HP:0001744HP:0001744Splenomegaly0IDUA CL E G H3425607015Mucopolysaccharidosis, MPS-I-H/S607015C0086431OMIM111145391252800
HP:0001744HP:0001744Splenomegaly0IDUA CL E G H3425607015Mucopolysaccharidosis, MPS-I-H/S607015C0086431OMIM19715391252800
HP:0001744HP:0001744Splenomegaly0IFNGR1 CL E G H3459209950Disseminated atypical mycobacterial infection209950C0694566OMIM12375439107470
HP:0001744HP:0001744Splenomegaly0IFNGR1 CL E G H3459209950Disseminated atypical mycobacterial infection209950C0694566OMIM11915439107470
HP:0001744HP:0001744Splenomegaly0IFT172 CL E G H26160615630Short-rib thoracic dysplasia 10 with or without polydactyly615630C3810175OMIM180530391607386
HP:0001744HP:0001744Splenomegaly0IFT172 CL E G H26160615630Short-rib thoracic dysplasia 10 with or without polydactyly615630C3810175OMIM158730391607386
HP:0001744HP:0001744Splenomegaly0IGH CL E G H349252416ORPHA11625477146910
HP:0001744HP:0001744Splenomegaly0IGH CL E G H349252416ORPHA11655477146910
HP:0001744HP:0001744Splenomegaly0IGH CL E G H3492545Adducted thumbs Dundar typeORPHA11655477146910
HP:0001744HP:0001744Splenomegaly0IGH CL E G H3492545Adducted thumbs Dundar typeORPHA11625477146910
HP:0001744HP:0001744Splenomegaly0IL1RN CL E G H3557612852Osteomyelitis, sterile multifocal, with periostitis and pustulosis612852C2748507OMIM11766000147679
HP:0001744HP:0001744Splenomegaly0IL1RN CL E G H3557612852Osteomyelitis, sterile multifocal, with periostitis and pustulosis612852C2748507OMIM11546000147679
HP:0001744HP:0001744Splenomegaly0IL2RA CL E G H3559606367Interleukin 2 receptor, alpha, deficiency of606367C1853392OMIM12436008147730
HP:0001744HP:0001744Splenomegaly0IL2RA CL E G H3559606367Interleukin 2 receptor, alpha, deficiency of606367C1853392OMIM12106008147730
HP:0001744HP:0001744Splenomegaly0IL2RG CL E G H356139041ORPHA14036010308380
HP:0001744HP:0001744Splenomegaly0IL2RG CL E G H356139041ORPHA13706010308380
HP:0001744HP:0001744Splenomegaly0IL7R CL E G H357539041ORPHA13436024146661
HP:0001744HP:0001744Splenomegaly0IL7R CL E G H357539041ORPHA13026024146661
HP:0001744HP:0001744Splenomegaly0IL7R CL E G H3575608971Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive608971C1837028OMIM13436024146661
HP:0001744HP:0001744Splenomegaly0IL7R CL E G H3575608971Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive608971C1837028OMIM13026024146661
HP:0001744HP:0001744Splenomegaly0IRF8 CL E G H3394226990Immunodeficiency 32b226990C4016741OMIM12135358601565
HP:0001744HP:0001744Splenomegaly0IRF8 CL E G H3394226990Immunodeficiency 32b226990C4016741OMIM11765358601565
HP:0001744HP:0001744Splenomegaly0ITCH CL E G H83737613385Autoimmune disease, syndromic multisystem613385C3150649OMIM120413890606409
HP:0001744HP:0001744Splenomegaly0ITCH CL E G H83737613385Autoimmune disease, syndromic multisystem613385C3150649OMIM115613890606409
HP:0001744HP:0001744Splenomegaly0ITK CL E G H3702613011Lymphoproliferative syndrome 1613011C3552634OMIM13136171186973
HP:0001744HP:0001744Splenomegaly0ITK CL E G H3702613011Lymphoproliferative syndrome 1613011C3552634OMIM12626171186973
HP:0001744HP:0001744Splenomegaly0JAK2 CL E G H371771493ORPHA12646192147796
HP:0001744HP:0001744Splenomegaly0JAK2 CL E G H37173318ORPHA12736192147796
HP:0001744HP:0001744Splenomegaly0JAK2 CL E G H371771493ORPHA12736192147796
HP:0001744HP:0001744Splenomegaly0JAK2 CL E G H37173318ORPHA12646192147796
HP:0001744HP:0001744Splenomegaly0JAK2 CL E G H3717729Anti-factor 8 autoimmunizationORPHA12736192147796
HP:0001744HP:0001744Splenomegaly0JAK2 CL E G H3717729Anti-factor 8 autoimmunizationORPHA12646192147796
HP:0001744HP:0001744Splenomegaly0JAK2 CL E G H3717133100Familial erythrocytosis, 1133100C1851490OMIM12736192147796
HP:0001744HP:0001744Splenomegaly0JAK2 CL E G H3717133100Familial erythrocytosis, 1133100C1851490OMIM12646192147796
HP:0001744HP:0001744Splenomegaly0JAK2 CL E G H3717254450Myelofibrosis254450C0001815OMIM12736192147796
HP:0001744HP:0001744Splenomegaly0JAK2 CL E G H3717254450Myelofibrosis254450C0001815OMIM12646192147796
HP:0001744HP:0001744Splenomegaly0JAK2 CL E G H3717131Myeloid sarcomaORPHA12736192147796
HP:0001744HP:0001744Splenomegaly0JAK2 CL E G H3717131Myeloid sarcomaORPHA12646192147796
HP:0001744HP:0001744Splenomegaly0JAK2 CL E G H3717263300Polycythemia vera263300C0032463OMIM12736192147796
HP:0001744HP:0001744Splenomegaly0JAK2 CL E G H3717263300Polycythemia vera263300C0032463OMIM12646192147796
HP:0001744HP:0001744Splenomegaly0KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM12776250603305
HP:0001744HP:0001744Splenomegaly0KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM11776250603305
HP:0001744HP:0001744Splenomegaly0KCNN4 CL E G H3783616689Dehydrated hereditary stomatocytosis 2616689C4225242OMIM1376293602754
HP:0001744HP:0001744Splenomegaly0KCNN4 CL E G H3783616689Dehydrated hereditary stomatocytosis 2616689C4225242OMIM1356293602754
HP:0001744HP:0001744Splenomegaly0KLF1 CL E G H1066146532ORPHA1786345600599
HP:0001744HP:0001744Splenomegaly0KLF1 CL E G H1066146532ORPHA1836345600599
HP:0001744HP:0001744Splenomegaly0KLF1 CL E G H10661613673Congenital dyserythropoietic anemia, type IV613673C3150926OMIM1836345600599
HP:0001744HP:0001744Splenomegaly0KLF1 CL E G H10661613673Congenital dyserythropoietic anemia, type IV613673C3150926OMIM1786345600599
HP:0001744HP:0001744Splenomegaly0KRAS CL E G H3845614470RAS-associated autoimmune leukoproliferative disorder614470C2674723OMIM13416407190070
HP:0001744HP:0001744Splenomegaly0KRAS CL E G H3845614470RAS-associated autoimmune leukoproliferative disorder614470C2674723OMIM13316407190070
HP:0001744HP:0001744Splenomegaly0LBR CL E G H3930613471Reynolds syndrome613471C0748397OMIM12566518600024
HP:0001744HP:0001744Splenomegaly0LBR CL E G H3930613471Reynolds syndrome613471C0748397OMIM12256518600024
HP:0001744HP:0001744Splenomegaly0LIG4 CL E G H398139041ORPHA14676601601837
HP:0001744HP:0001744Splenomegaly0LIG4 CL E G H398139041ORPHA13886601601837
HP:0001744HP:0001744Splenomegaly0LIPA CL E G H398875233ORPHA13396617613497
HP:0001744HP:0001744Splenomegaly0LIPA CL E G H398875233ORPHA13726617613497
HP:0001744HP:0001744Splenomegaly0LIPA CL E G H398875234Cholesteryl ester storage diseaseC0008384ORPHA13396617613497
HP:0001744HP:0001744Splenomegaly0LIPA CL E G H398875234Cholesteryl ester storage diseaseC0008384ORPHA13726617613497
HP:0001744HP:0001744Splenomegaly0LIPA CL E G H3988278000Lysosomal acid lipase deficiency278000C0043208OMIM13726617613497
HP:0001744HP:0001744Splenomegaly0LIPA CL E G H3988278000Lysosomal acid lipase deficiency278000C0043208OMIM13396617613497
HP:0001744HP:0001744Splenomegaly0LPIN2 CL E G H966377297ORPHA164714450605519
HP:0001744HP:0001744Splenomegaly0LPIN2 CL E G H966377297ORPHA171514450605519
HP:0001744HP:0001744Splenomegaly0LPL CL E G H4023238600Hyperlipoproteinemia, type I238600C0023817OMIM14576677609708
HP:0001744HP:0001744Splenomegaly0LPL CL E G H4023238600Hyperlipoproteinemia, type I238600C0023817OMIM14246677609708
HP:0001744HP:0001744Splenomegaly0LYST CL E G H1130167ORPHA115181968606897
HP:0001744HP:0001744Splenomegaly0LYST CL E G H1130167ORPHA111761968606897
HP:0001744HP:0001744Splenomegaly0LYST CL E G H1130214500Chédiak-Higashi syndrome214500C0007965OMIM115181968606897
HP:0001744HP:0001744Splenomegaly0LYST CL E G H1130214500Chédiak-Higashi syndrome214500C0007965OMIM111761968606897
HP:0001744HP:0001744Splenomegaly0LYZ CL E G H4069105200Familial visceral amyloidosis, Ostertag type105200C0268389OMIM1666740153450
HP:0001744HP:0001744Splenomegaly0LYZ CL E G H4069105200Familial visceral amyloidosis, Ostertag type105200C0268389OMIM1646740153450
HP:0001744HP:0001744Splenomegaly0MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM17906826609458
HP:0001744HP:0001744Splenomegaly0MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM16536826609458
HP:0001744HP:0001744Splenomegaly0MCM4 CL E G H4173609981Natural killer cell and glucocorticoid deficiency with DNA repair defect609981C1864947OMIM13086947602638
HP:0001744HP:0001744Splenomegaly0MCM4 CL E G H4173609981Natural killer cell and glucocorticoid deficiency with DNA repair defect609981C1864947OMIM11926947602638
HP:0001744HP:0001744Splenomegaly0MEFV CL E G H4210249100Familial Mediterranean fever249100C0031069OMIM17956998608107
HP:0001744HP:0001744Splenomegaly0MEFV CL E G H4210249100Familial Mediterranean fever249100C0031069OMIM17376998608107
HP:0001744HP:0001744Splenomegaly0MKS1 CL E G H54903249000Meckel syndrome type 1249000C3714506OMIM15537121609883
HP:0001744HP:0001744Splenomegaly0MKS1 CL E G H54903249000Meckel syndrome type 1249000C3714506OMIM14777121609883
HP:0001744HP:0001744Splenomegaly0MMUT CL E G H459479312ORPHA16117526609058
HP:0001744HP:0001744Splenomegaly0MMUT CL E G H459479312ORPHA16847526609058
HP:0001744HP:0001744Splenomegaly0MPL CL E G H435271493ORPHA13147217159530
HP:0001744HP:0001744Splenomegaly0MPL CL E G H43523318ORPHA13677217159530
HP:0001744HP:0001744Splenomegaly0MPL CL E G H435271493ORPHA13677217159530
HP:0001744HP:0001744Splenomegaly0MPL CL E G H43523318ORPHA13147217159530
HP:0001744HP:0001744Splenomegaly0MPL CL E G H4352729Anti-factor 8 autoimmunizationORPHA13677217159530
HP:0001744HP:0001744Splenomegaly0MPL CL E G H4352729Anti-factor 8 autoimmunizationORPHA13147217159530
HP:0001744HP:0001744Splenomegaly0MPL CL E G H4352254450Myelofibrosis254450C0001815OMIM13677217159530
HP:0001744HP:0001744Splenomegaly0MPL CL E G H4352254450Myelofibrosis254450C0001815OMIM13147217159530
HP:0001744HP:0001744Splenomegaly0MS4A1 CL E G H9311572ORPHA1627315112210
HP:0001744HP:0001744Splenomegaly0MS4A1 CL E G H9311572ORPHA1287315112210
HP:0001744HP:0001744Splenomegaly0MST1 CL E G H4485171Le Marec Bracq Picaud syndromeORPHA1177380142408
HP:0001744HP:0001744Splenomegaly0MST1 CL E G H4485171Le Marec Bracq Picaud syndromeORPHA1167380142408
HP:0001744HP:0001744Splenomegaly0MVK CL E G H459829ORPHA14017530251170
HP:0001744HP:0001744Splenomegaly0MVK CL E G H459829ORPHA13717530251170
HP:0001744HP:0001744Splenomegaly0MVK CL E G H4598260920Hyperimmunoglobulin D with periodic fever260920C0398691OMIM14017530251170
HP:0001744HP:0001744Splenomegaly0MVK CL E G H4598260920Hyperimmunoglobulin D with periodic fever260920C0398691OMIM13717530251170
HP:0001744HP:0001744Splenomegaly0NAGLU CL E G H4669252920Mucopolysaccharidosis, MPS-III-B252920C0086648OMIM16377632609701
HP:0001744HP:0001744Splenomegaly0NAGLU CL E G H4669252920Mucopolysaccharidosis, MPS-III-B252920C0086648OMIM14757632609701
HP:0001744HP:0001744Splenomegaly0NBEAL2 CL E G H23218721ORPHA133231928614169
HP:0001744HP:0001744Splenomegaly0NBEAL2 CL E G H23218721ORPHA132031928614169
HP:0001744HP:0001744Splenomegaly0NBEAL2 CL E G H23218139090Gray platelet syndrome139090C0272302OMIM133231928614169
HP:0001744HP:0001744Splenomegaly0NBEAL2 CL E G H23218139090Gray platelet syndrome139090C0272302OMIM132031928614169
HP:0001744HP:0001744Splenomegaly0NCF1 CL E G H653361233700Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1233700C1856251OMIM1997660608512
HP:0001744HP:0001744Splenomegaly0NCF2 CL E G H4688233710Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2233710C1856245OMIM13307661608515
HP:0001744HP:0001744Splenomegaly0NCF2 CL E G H4688233710Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2233710C1856245OMIM12777661608515
HP:0001744HP:0001744Splenomegaly0NEU1 CL E G H4758812ORPHA11347758608272
HP:0001744HP:0001744Splenomegaly0NEU1 CL E G H4758812ORPHA11157758608272
HP:0001744HP:0001744Splenomegaly0NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11347758608272
HP:0001744HP:0001744Splenomegaly0NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11157758608272
HP:0001744HP:0001744Splenomegaly0NFKB1 CL E G H47901572ORPHA12667794164011
HP:0001744HP:0001744Splenomegaly0NFKB1 CL E G H47901572ORPHA11717794164011
HP:0001744HP:0001744Splenomegaly0NFKB2 CL E G H47911572ORPHA13177795164012
HP:0001744HP:0001744Splenomegaly0NFKB2 CL E G H47911572ORPHA12487795164012
HP:0001744HP:0001744Splenomegaly0NLRC4 CL E G H584841451ORPHA140916412606831
HP:0001744HP:0001744Splenomegaly0NLRC4 CL E G H584841451ORPHA132116412606831
HP:0001744HP:0001744Splenomegaly0NLRC4 CL E G H58484616050Autoinflammation with infantile enterocolitis616050C4015067OMIM140916412606831
HP:0001744HP:0001744Splenomegaly0NLRC4 CL E G H58484616050Autoinflammation with infantile enterocolitis616050C4015067OMIM132116412606831
HP:0001744HP:0001744Splenomegaly0NLRP1 CL E G H22861617388Autoinflammation with arthritis and dyskeratosis617388C4479278OMIM138714374606636
HP:0001744HP:0001744Splenomegaly0NLRP1 CL E G H22861617388Autoinflammation with arthritis and dyskeratosis617388C4479278OMIM120214374606636
HP:0001744HP:0001744Splenomegaly0NLRP3 CL E G H1145481451ORPHA167616400606416
HP:0001744HP:0001744Splenomegaly0NLRP3 CL E G H1145481451ORPHA160516400606416
HP:0001744HP:0001744Splenomegaly0NLRP3 CL E G H114548575Aicardi Goutieres syndromeC0393591ORPHA167616400606416
HP:0001744HP:0001744Splenomegaly0NLRP3 CL E G H114548575Aicardi Goutieres syndromeC0393591ORPHA160516400606416
HP:0001744HP:0001744Splenomegaly0NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM114714537601015
HP:0001744HP:0001744Splenomegaly0NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM112714537601015
HP:0001744HP:0001744Splenomegaly0NRAS CL E G H4893614470RAS-associated autoimmune leukoproliferative disorder614470C2674723OMIM12267989164790
HP:0001744HP:0001744Splenomegaly0NRAS CL E G H4893614470RAS-associated autoimmune leukoproliferative disorder614470C2674723OMIM12127989164790
HP:0001744HP:0001744Splenomegaly0OCLN CL E G H100506658251290Band-like calcification with simplified gyration and polymicrogyria251290C3489725OMIM1968104602876
HP:0001744HP:0001744Splenomegaly0OCLN CL E G H100506658251290Band-like calcification with simplified gyration and polymicrogyria251290C3489725OMIM1888104602876
HP:0001744HP:0001744Splenomegaly0OTC CL E G H5009664Anaplastic thyroid carcinomaC0238461ORPHA17768512300461
HP:0001744HP:0001744Splenomegaly0OTC CL E G H5009664Anaplastic thyroid carcinomaC0238461ORPHA17418512300461
HP:0001744HP:0001744Splenomegaly0PDGFRA CL E G H5156607685Idiopathic hypereosinophilic syndrome607685C0206141OMIM119298803173490
HP:0001744HP:0001744Splenomegaly0PDGFRA CL E G H5156607685Idiopathic hypereosinophilic syndrome607685C0206141OMIM116808803173490
HP:0001744HP:0001744Splenomegaly0PEPD CL E G H5184170100Prolidase deficiency170100C0268532OMIM12918840613230
HP:0001744HP:0001744Splenomegaly0PEPD CL E G H5184170100Prolidase deficiency170100C0268532OMIM11888840613230
HP:0001744HP:0001744Splenomegaly0PEX2 CL E G H5828614866Peroxisome biogenesis disorder 5a (zellweger)614866C3553940OMIM13199717170993
HP:0001744HP:0001744Splenomegaly0PEX2 CL E G H5828614866Peroxisome biogenesis disorder 5a (zellweger)614866C3553940OMIM12549717170993
HP:0001744HP:0001744Splenomegaly0PEX7 CL E G H5191773ORPHA13638860601757
HP:0001744HP:0001744Splenomegaly0PEX7 CL E G H5191773ORPHA13108860601757
HP:0001744HP:0001744Splenomegaly0PHKG2 CL E G H5261613027Glycogen storage disease IXc613027C2751643OMIM11568931172471
HP:0001744HP:0001744Splenomegaly0PHKG2 CL E G H5261613027Glycogen storage disease IXc613027C2751643OMIM11488931172471
HP:0001744HP:0001744Splenomegaly0PHYH CL E G H5264773ORPHA12608940602026
HP:0001744HP:0001744Splenomegaly0PHYH CL E G H5264773ORPHA12018940602026
HP:0001744HP:0001744Splenomegaly0PIEZO1 CL E G H9780616843Lymphedema, hereditary, III616843C4225184OMIM185528993611184
HP:0001744HP:0001744Splenomegaly0PIEZO1 CL E G H9780616843Lymphedema, hereditary, III616843C4225184OMIM178528993611184
HP:0001744HP:0001744Splenomegaly0PIGM CL E G H93183610293Glycosylphosphatidylinositol deficiency610293C1853205OMIM15018858610273
HP:0001744HP:0001744Splenomegaly0PIGM CL E G H93183610293Glycosylphosphatidylinositol deficiency610293C1853205OMIM14318858610273
HP:0001744HP:0001744Splenomegaly0PIK3CA CL E G H5290612918Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi612918C2752042OMIM16138975171834
HP:0001744HP:0001744Splenomegaly0PIK3CA CL E G H5290612918Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi612918C2752042OMIM15448975171834
HP:0001744HP:0001744Splenomegaly0PKHD1 CL E G H5314263200Autosomal recessive polycystic kidney disease263200C0085548OMIM128169016606702
HP:0001744HP:0001744Splenomegaly0PKHD1 CL E G H5314263200Autosomal recessive polycystic kidney disease263200C0085548OMIM126049016606702
HP:0001744HP:0001744Splenomegaly0PKLR CL E G H5313766ORPHA11799020609712
HP:0001744HP:0001744Splenomegaly0PKLR CL E G H5313766ORPHA11609020609712
HP:0001744HP:0001744Splenomegaly0PKLR CL E G H5313266200Pyruvate kinase deficiency of red cells266200C0340968OMIM11799020609712
HP:0001744HP:0001744Splenomegaly0PKLR CL E G H5313266200Pyruvate kinase deficiency of red cells266200C0340968OMIM11609020609712
HP:0001744HP:0001744Splenomegaly0PNP CL E G H4860613179Purine-nucleoside phosphorylase deficiency613179C0268125OMIM11877892164050
HP:0001744HP:0001744Splenomegaly0PNP CL E G H4860613179Purine-nucleoside phosphorylase deficiency613179C0268125OMIM11667892164050
HP:0001744HP:0001744Splenomegaly0PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM13549360170280
HP:0001744HP:0001744Splenomegaly0PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM12949360170280
HP:0001744HP:0001744Splenomegaly0PRKCD CL E G H55801572ORPHA12779399176977
HP:0001744HP:0001744Splenomegaly0PRKCD CL E G H55801572ORPHA12259399176977
HP:0001744HP:0001744Splenomegaly0PRKCD CL E G H5580615559Autoimmune lymphoproliferative syndrome, type III615559C3809928OMIM12779399176977
HP:0001744HP:0001744Splenomegaly0PRKCD CL E G H5580615559Autoimmune lymphoproliferative syndrome, type III615559C3809928OMIM12259399176977
HP:0001744HP:0001744Splenomegaly0PSAP CL E G H5660139406ORPHA15029498176801
HP:0001744HP:0001744Splenomegaly0PSAP CL E G H5660139406ORPHA13909498176801
HP:0001744HP:0001744Splenomegaly0PSAP CL E G H5660611721Combined saposin deficiency611721C2673635OMIM15029498176801
HP:0001744HP:0001744Splenomegaly0PSAP CL E G H5660611721Combined saposin deficiency611721C2673635OMIM13909498176801
HP:0001744HP:0001744Splenomegaly0PSMB8 CL E G H56962615ORPHA11369545177046
HP:0001744HP:0001744Splenomegaly0PSMB8 CL E G H56962615ORPHA11219545177046
HP:0001744HP:0001744Splenomegaly0PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM11369545177046
HP:0001744HP:0001744Splenomegaly0PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM11219545177046
HP:0001744HP:0001744Splenomegaly0PTPRC CL E G H5788608971Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive608971C1837028OMIM14639666151460
HP:0001744HP:0001744Splenomegaly0PTPRC CL E G H5788608971Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive608971C1837028OMIM13829666151460
HP:0001744HP:0001744Splenomegaly0RAB27A CL E G H587379477ORPHA12049766603868
HP:0001744HP:0001744Splenomegaly0RAB27A CL E G H587379477ORPHA12289766603868
HP:0001744HP:0001744Splenomegaly0RAG1 CL E G H5896231154ORPHA14919831179615
HP:0001744HP:0001744Splenomegaly0RAG1 CL E G H5896231154ORPHA14269831179615
HP:0001744HP:0001744Splenomegaly0RAG1 CL E G H589639041ORPHA14919831179615
HP:0001744HP:0001744Splenomegaly0RAG1 CL E G H589639041ORPHA14269831179615
HP:0001744HP:0001744Splenomegaly0RAG1 CL E G H5896603554Histiocytic medullary reticulosis603554C1801959OMIM14919831179615
HP:0001744HP:0001744Splenomegaly0RAG1 CL E G H5896603554Histiocytic medullary reticulosis603554C1801959OMIM14269831179615
HP:0001744HP:0001744Splenomegaly0RAG2 CL E G H589739041ORPHA13259832179616
HP:0001744HP:0001744Splenomegaly0RAG2 CL E G H589739041ORPHA12789832179616
HP:0001744HP:0001744Splenomegaly0RAG2 CL E G H5897603554Histiocytic medullary reticulosis603554C1801959OMIM13259832179616
HP:0001744HP:0001744Splenomegaly0RAG2 CL E G H5897603554Histiocytic medullary reticulosis603554C1801959OMIM12789832179616
HP:0001744HP:0001744Splenomegaly0RHAG CL E G H6005185000Stomatocytosis I185000C1861455OMIM15510006180297
HP:0001744HP:0001744Splenomegaly0RHAG CL E G H6005185000Stomatocytosis I185000C1861455OMIM15310006180297
HP:0001744HP:0001744Splenomegaly0RMRP CL E G H602339041ORPHA160910031157660
HP:0001744HP:0001744Splenomegaly0RMRP CL E G H602339041ORPHA149810031157660
HP:0001744HP:0001744Splenomegaly0RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM125918518606034
HP:0001744HP:0001744Splenomegaly0RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM118618518606034
HP:0001744HP:0001744Splenomegaly0RNU4ATAC CL E G H100151683616651Roifman syndrome616651C1846059OMIM120134016601428
HP:0001744HP:0001744Splenomegaly0RNU4ATAC CL E G H100151683616651Roifman syndrome616651C1846059OMIM17634016601428
HP:0001744HP:0001744Splenomegaly0RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM196429168610937
HP:0001744HP:0001744Splenomegaly0RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM179429168610937
HP:0001744HP:0001744Splenomegaly0RUNX1 CL E G H861521ORPHA1104210471151385
HP:0001744HP:0001744Splenomegaly0RUNX1 CL E G H861521ORPHA189710471151385
HP:0001744HP:0001744Splenomegaly0SAMD9L CL E G H2192852585ORPHA12901349611170
HP:0001744HP:0001744Splenomegaly0SAMD9L CL E G H2192852585ORPHA11381349611170
HP:0001744HP:0001744Splenomegaly0SCARB2 CL E G H95077259ORPHA13281665602257
HP:0001744HP:0001744Splenomegaly0SCARB2 CL E G H95077259ORPHA13761665602257
HP:0001744HP:0001744Splenomegaly0SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM16914372607982
HP:0001744HP:0001744Splenomegaly0SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM16814372607982
HP:0001744HP:0001744Splenomegaly0SEC23B CL E G H10483224100Congenital dyserythropoietic anemia, type II224100C1306589OMIM123610702610512
HP:0001744HP:0001744Splenomegaly0SEC23B CL E G H10483224100Congenital dyserythropoietic anemia, type II224100C1306589OMIM122210702610512
HP:0001744HP:0001744Splenomegaly0SGSH CL E G H6448252900Mucopolysaccharidosis, MPS-III-A252900C0086647OMIM180610818605270
HP:0001744HP:0001744Splenomegaly0SGSH CL E G H6448252900Mucopolysaccharidosis, MPS-III-A252900C0086647OMIM164210818605270
HP:0001744HP:0001744Splenomegaly0SH2B3 CL E G H100193318ORPHA14829605605093
HP:0001744HP:0001744Splenomegaly0SH2B3 CL E G H100193318ORPHA14329605605093
HP:0001744HP:0001744Splenomegaly0SH2B3 CL E G H10019187950Essential thrombocythemia187950C0040028OMIM14829605605093
HP:0001744HP:0001744Splenomegaly0SH2B3 CL E G H10019187950Essential thrombocythemia187950C0040028OMIM14329605605093
HP:0001744HP:0001744Splenomegaly0SH2B3 CL E G H10019133100Familial erythrocytosis, 1133100C1851490OMIM14829605605093
HP:0001744HP:0001744Splenomegaly0SH2B3 CL E G H10019133100Familial erythrocytosis, 1133100C1851490OMIM14329605605093
HP:0001744HP:0001744Splenomegaly0SH2B3 CL E G H10019254450Myelofibrosis254450C0001815OMIM14829605605093
HP:0001744HP:0001744Splenomegaly0SH2B3 CL E G H10019254450Myelofibrosis254450C0001815OMIM14329605605093
HP:0001744HP:0001744Splenomegaly0SH2D1A CL E G H40682442ORPHA127810820300490
HP:0001744HP:0001744Splenomegaly0SH2D1A CL E G H40682442ORPHA126110820300490
HP:0001744HP:0001744Splenomegaly0SH2D1A CL E G H4068308240Lymphoproliferative syndrome 1, X-linked308240C1868674OMIM127810820300490
HP:0001744HP:0001744Splenomegaly0SH2D1A CL E G H4068308240Lymphoproliferative syndrome 1, X-linked308240C1868674OMIM126110820300490
HP:0001744HP:0001744Splenomegaly0SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM133510933604322
HP:0001744HP:0001744Splenomegaly0SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM128510933604322
HP:0001744HP:0001744Splenomegaly0SLC29A3 CL E G H55315602782Histiocytosis-lymphadenopathy plus syndrome602782C1864445OMIM131523096612373
HP:0001744HP:0001744Splenomegaly0SLC29A3 CL E G H55315602782Histiocytosis-lymphadenopathy plus syndrome602782C1864445OMIM124723096612373
HP:0001744HP:0001744Splenomegaly0SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM175311005138140
HP:0001744HP:0001744Splenomegaly0SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM167211005138140
HP:0001744HP:0001744Splenomegaly0SLC30A10 CL E G H55532309854ORPHA116725355611146
HP:0001744HP:0001744Splenomegaly0SLC30A10 CL E G H55532309854ORPHA113925355611146
HP:0001744HP:0001744Splenomegaly0SLC39A4 CL E G H55630201100Hereditary acrodermatitis enteropathica201100C0221036OMIM148617129607059
HP:0001744HP:0001744Splenomegaly0SLC39A4 CL E G H55630201100Hereditary acrodermatitis enteropathica201100C0221036OMIM144917129607059
HP:0001744HP:0001744Splenomegaly0SLC4A1 CL E G H6521185020Pseudohyperkalemia Cardiff185020C1861453OMIM135111027109270
HP:0001744HP:0001744Splenomegaly0SLC4A1 CL E G H6521185020Pseudohyperkalemia Cardiff185020C1861453OMIM130911027109270
HP:0001744HP:0001744Splenomegaly0SLC4A1 CL E G H6521612653Spherocytosis type 4612653C2675212OMIM135111027109270
HP:0001744HP:0001744Splenomegaly0SLC4A1 CL E G H6521612653Spherocytosis type 4612653C2675212OMIM130911027109270
HP:0001744HP:0001744Splenomegaly0SLC7A7 CL E G H9056222700Lysinuric protein intolerance222700C0268647OMIM146611065603593
HP:0001744HP:0001744Splenomegaly0SLC7A7 CL E G H9056222700Lysinuric protein intolerance222700C0268647OMIM140611065603593
HP:0001744HP:0001744Splenomegaly0SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM165211120607608
HP:0001744HP:0001744Splenomegaly0SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM160511120607608
HP:0001744HP:0001744Splenomegaly0SMPD1 CL E G H6609607616Niemann-Pick disease, type B607616C0268243OMIM165211120607608
HP:0001744HP:0001744Splenomegaly0SMPD1 CL E G H6609607616Niemann-Pick disease, type B607616C0268243OMIM160511120607608
HP:0001744HP:0001744Splenomegaly0SNX10 CL E G H29887667ORPHA18914974614780
HP:0001744HP:0001744Splenomegaly0SNX10 CL E G H29887667ORPHA15614974614780
HP:0001744HP:0001744Splenomegaly0SNX10 CL E G H29887615085Osteopetrosis, autosomal recessive 8615085C3554478OMIM18914974614780
HP:0001744HP:0001744Splenomegaly0SNX10 CL E G H29887615085Osteopetrosis, autosomal recessive 8615085C3554478OMIM15614974614780
HP:0001744HP:0001744Splenomegaly0SPTB CL E G H6710616649Spherocytosis type 2616649C2674219OMIM139711274182870
HP:0001744HP:0001744Splenomegaly0SPTB CL E G H6710616649Spherocytosis type 2616649C2674219OMIM134611274182870
HP:0001744HP:0001744Splenomegaly0STEAP3 CL E G H55240615234Hypochromic microcytic anemia with iron overload 2615234C3808920OMIM14124592609671
HP:0001744HP:0001744Splenomegaly0STEAP3 CL E G H55240615234Hypochromic microcytic anemia with iron overload 2615234C3808920OMIM13724592609671
HP:0001744HP:0001744Splenomegaly0SUMF1 CL E G H285362585ORPHA148720376607939
HP:0001744HP:0001744Splenomegaly0SUMF1 CL E G H285362585ORPHA138920376607939
HP:0001744HP:0001744Splenomegaly0SUMF1 CL E G H285362272200Multiple sulfatase deficiency272200C0268263OMIM148720376607939
HP:0001744HP:0001744Splenomegaly0SUMF1 CL E G H285362272200Multiple sulfatase deficiency272200C0268263OMIM138920376607939
HP:0001744HP:0001744Splenomegaly0TALDO1 CL E G H6888606003Deficiency of transaldolase606003C1291329OMIM111611559602063
HP:0001744HP:0001744Splenomegaly0TALDO1 CL E G H6888606003Deficiency of transaldolase606003C1291329OMIM19611559602063
HP:0001744HP:0001744Splenomegaly0TCF4 CL E G H6925171Le Marec Bracq Picaud syndromeORPHA181211634602272
HP:0001744HP:0001744Splenomegaly0TCF4 CL E G H6925171Le Marec Bracq Picaud syndromeORPHA175611634602272
HP:0001744HP:0001744Splenomegaly0TCIRG1 CL E G H10312667ORPHA167411647604592
HP:0001744HP:0001744Splenomegaly0TCIRG1 CL E G H10312667ORPHA154411647604592
HP:0001744HP:0001744Splenomegaly0TCIRG1 CL E G H10312259700Osteopetrosis autosomal recessive 1259700C1850127OMIM167411647604592
HP:0001744HP:0001744Splenomegaly0TCIRG1 CL E G H10312259700Osteopetrosis autosomal recessive 1259700C1850127OMIM154411647604592
HP:0001744HP:0001744Splenomegaly0TET2 CL E G H547903318ORPHA110225941612839
HP:0001744HP:0001744Splenomegaly0TET2 CL E G H547903318ORPHA18525941612839
HP:0001744HP:0001744Splenomegaly0TET2 CL E G H54790729Anti-factor 8 autoimmunizationORPHA110225941612839
HP:0001744HP:0001744Splenomegaly0TET2 CL E G H54790729Anti-factor 8 autoimmunizationORPHA18525941612839
HP:0001744HP:0001744Splenomegaly0THPO CL E G H706671493ORPHA110911795600044
HP:0001744HP:0001744Splenomegaly0THPO CL E G H706671493ORPHA111111795600044
HP:0001744HP:0001744Splenomegaly0THPO CL E G H7066187950Essential thrombocythemia187950C0040028OMIM111111795600044
HP:0001744HP:0001744Splenomegaly0THPO CL E G H7066187950Essential thrombocythemia187950C0040028OMIM110911795600044
HP:0001744HP:0001744Splenomegaly0TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM156928396609884
HP:0001744HP:0001744Splenomegaly0TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM140228396609884
HP:0001744HP:0001744Splenomegaly0TNFRSF13B CL E G H234951572ORPHA132218153604907
HP:0001744HP:0001744Splenomegaly0TNFRSF13B CL E G H234951572ORPHA128418153604907
HP:0001744HP:0001744Splenomegaly0TNFRSF13B CL E G H23495240500Common variable immunodeficiency 2240500C3150354OMIM132218153604907
HP:0001744HP:0001744Splenomegaly0TNFRSF13B CL E G H23495240500Common variable immunodeficiency 2240500C3150354OMIM128418153604907
HP:0001744HP:0001744Splenomegaly0TNFRSF13C CL E G H1156501572ORPHA112517755606269
HP:0001744HP:0001744Splenomegaly0TNFRSF13C CL E G H1156501572ORPHA110117755606269
HP:0001744HP:0001744Splenomegaly0TNFRSF13C CL E G H115650240500Common variable immunodeficiency 2240500C3150354OMIM112517755606269
HP:0001744HP:0001744Splenomegaly0TNFRSF13C CL E G H115650240500Common variable immunodeficiency 2240500C3150354OMIM110117755606269
HP:0001744HP:0001744Splenomegaly0TNFRSF1A CL E G H713232960ORPHA139611916191190
HP:0001744HP:0001744Splenomegaly0TNFRSF1A CL E G H713232960ORPHA135211916191190
HP:0001744HP:0001744Splenomegaly0TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA15611917191191
HP:0001744HP:0001744Splenomegaly0TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA15211917191191
HP:0001744HP:0001744Splenomegaly0TNFRSF4 CL E G H7293615593Immunodeficiency 16615593C3810053OMIM131411918600315
HP:0001744HP:0001744Splenomegaly0TNFRSF4 CL E G H7293615593Immunodeficiency 16615593C3810053OMIM125911918600315
HP:0001744HP:0001744Splenomegaly0TNFSF11 CL E G H8600667ORPHA116611926602642
HP:0001744HP:0001744Splenomegaly0TNFSF11 CL E G H8600667ORPHA112911926602642
HP:0001744HP:0001744Splenomegaly0TNFSF12 CL E G H87421572ORPHA113111927602695
HP:0001744HP:0001744Splenomegaly0TNFSF12 CL E G H87421572ORPHA19411927602695
HP:0001744HP:0001744Splenomegaly0TP53 CL E G H71573318ORPHA1246411998191170
HP:0001744HP:0001744Splenomegaly0TP53 CL E G H71573318ORPHA1228011998191170
HP:0001744HP:0001744Splenomegaly0TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM113212009190450
HP:0001744HP:0001744Splenomegaly0TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM110912009190450
HP:0001744HP:0001744Splenomegaly0TPP2 CL E G H7174444463ORPHA137812016190470
HP:0001744HP:0001744Splenomegaly0TPP2 CL E G H7174444463ORPHA129912016190470
HP:0001744HP:0001744Splenomegaly0UMPS CL E G H737230ORPHA124612563613891
HP:0001744HP:0001744Splenomegaly0UMPS CL E G H737230ORPHA124012563613891
HP:0001744HP:0001744Splenomegaly0UROS CL E G H739079277ORPHA113812592606938
HP:0001744HP:0001744Splenomegaly0UROS CL E G H739079277ORPHA115212592606938
HP:0001744HP:0001744Splenomegaly0UROS CL E G H7390263700Congenital erythropoietic porphyria263700C0162530OMIM115212592606938
HP:0001744HP:0001744Splenomegaly0UROS CL E G H7390263700Congenital erythropoietic porphyria263700C0162530OMIM113812592606938
HP:0001744HP:0001744Splenomegaly0VPS33A CL E G H65082617303Mucopolysaccharidosis-plus syndrome617303C4310627OMIM113618179610034
HP:0001744HP:0001744Splenomegaly0VPS33A CL E G H65082617303Mucopolysaccharidosis-plus syndrome617303C4310627OMIM19718179610034
HP:0001744HP:0001744Splenomegaly0VPS45 CL E G H11311615285Severe congenital neutropenia 5, autosomal recessive615285C3809031OMIM128014579610035
HP:0001744HP:0001744Splenomegaly0VPS45 CL E G H11311615285Severe congenital neutropenia 5, autosomal recessive615285C3809031OMIM124314579610035
HP:0001744HP:0001744Splenomegaly0WDR35 CL E G H57539613610Cranioectodermal dysplasia 2613610C3150874OMIM147429250613602
HP:0001744HP:0001744Splenomegaly0WDR35 CL E G H57539613610Cranioectodermal dysplasia 2613610C3150874OMIM140129250613602
HP:0001744HP:0001744Splenomegaly0XIAP CL E G H3312442ORPHA1431592300079
HP:0001744HP:0001744Splenomegaly0XIAP CL E G H3312442ORPHA1404592300079
HP:0001744HP:0001744Splenomegaly0XIAP CL E G H331308240Lymphoproliferative syndrome 1, X-linked308240C1868674OMIM1431592300079
HP:0001744HP:0001744Splenomegaly0XIAP CL E G H331308240Lymphoproliferative syndrome 1, X-linked308240C1868674OMIM1404592300079
HP:0001744HP:0001744Splenomegaly0ZAP70 CL E G H7535269840Severe combined immunodeficiency, atypical269840C1849236OMIM130212858176947
HP:0001744HP:0001744Splenomegaly0ZAP70 CL E G H7535269840Severe combined immunodeficiency, atypical269840C1849236OMIM125812858176947
HP:0001744HP:0006268Fluctuating splenomegaly1ABCA1 CL E G H19425ORPHA166429600046
HP:0001744HP:0006268Fluctuating splenomegaly1ABCA1 CL E G H19425ORPHA157629600046
HP:0001744HP:0006268Fluctuating splenomegaly1ABCA1 CL E G H19205400Tangier disease205400C0039292OMIM166429600046
HP:0001744HP:0006268Fluctuating splenomegaly1ABCA1 CL E G H19205400Tangier disease205400C0039292OMIM157629600046
HP:0001744HP:0006268Fluctuating splenomegaly1ABCB11 CL E G H8647601847Progressive familial intrahepatic cholestasis 2601847C3489789OMIM180842603201
HP:0001744HP:0006268Fluctuating splenomegaly1ABCB11 CL E G H8647601847Progressive familial intrahepatic cholestasis 2601847C3489789OMIM176242603201
HP:0001744HP:0006268Fluctuating splenomegaly1ABCB4 CL E G H5244602347Progressive familial intrahepatic cholestasis 3602347C1865643OMIM142545171060
HP:0001744HP:0006268Fluctuating splenomegaly1ABCB4 CL E G H5244602347Progressive familial intrahepatic cholestasis 3602347C1865643OMIM141245171060
HP:0001744HP:0006268Fluctuating splenomegaly1ABCD3 CL E G H5825616278Bile acid synthesis defect, congenital, 5616278C4225390OMIM13767170995
HP:0001744HP:0006268Fluctuating splenomegaly1ABCD3 CL E G H5825616278Bile acid synthesis defect, congenital, 5616278C4225390OMIM12867170995
HP:0001744HP:0006268Fluctuating splenomegaly1ABCG5 CL E G H64240210250Sitosterolemia210250C0342907OMIM130213886605459
HP:0001744HP:0006268Fluctuating splenomegaly1ABCG5 CL E G H64240210250Sitosterolemia210250C0342907OMIM127913886605459
HP:0001744HP:0006268Fluctuating splenomegaly1ABCG8 CL E G H64241210250Sitosterolemia210250C0342907OMIM141713887605460
HP:0001744HP:0006268Fluctuating splenomegaly1ABCG8 CL E G H64241210250Sitosterolemia210250C0342907OMIM138913887605460
HP:0001744HP:0006268Fluctuating splenomegaly1ABL1 CL E G H25521ORPHA118876189980
HP:0001744HP:0006268Fluctuating splenomegaly1ABL1 CL E G H25521ORPHA114776189980
HP:0001744HP:0006268Fluctuating splenomegaly1ADA CL E G H10039041ORPHA1387186608958
HP:0001744HP:0006268Fluctuating splenomegaly1ADA CL E G H10039041ORPHA1341186608958
HP:0001744HP:0006268Fluctuating splenomegaly1ADA CL E G H100102700Severe combined immunodeficiency due to ADA deficiency102700C1863236OMIM1387186608958
HP:0001744HP:0006268Fluctuating splenomegaly1ADA CL E G H100102700Severe combined immunodeficiency due to ADA deficiency102700C1863236OMIM1341186608958
HP:0001744HP:0006268Fluctuating splenomegaly1ADAMTS3 CL E G H95082136Epidermal nevus vitamin D resistant ricketsORPHA145219605011
HP:0001744HP:0006268Fluctuating splenomegaly1ADAMTS3 CL E G H95082136Epidermal nevus vitamin D resistant ricketsORPHA143219605011
HP:0001744HP:0006268Fluctuating splenomegaly1AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1205325603100
HP:0001744HP:0006268Fluctuating splenomegaly1AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1203325603100
HP:0001744HP:0006268Fluctuating splenomegaly1AKR1D1 CL E G H671879303ORPHA1206388604741
HP:0001744HP:0006268Fluctuating splenomegaly1AKR1D1 CL E G H671879303ORPHA1202388604741
HP:0001744HP:0006268Fluctuating splenomegaly1AKR1D1 CL E G H6718235555Bile acid synthesis defect, congenital, 2235555C1856127OMIM1206388604741
HP:0001744HP:0006268Fluctuating splenomegaly1AKR1D1 CL E G H6718235555Bile acid synthesis defect, congenital, 2235555C1856127OMIM1202388604741
HP:0001744HP:0006268Fluctuating splenomegaly1AKT1 CL E G H207176920Proteus syndrome176920C0085261OMIM1417391164730
HP:0001744HP:0006268Fluctuating splenomegaly1AKT1 CL E G H207176920Proteus syndrome176920C0085261OMIM1380391164730
HP:0001744HP:0006268Fluctuating splenomegaly1ALDOA CL E G H226611881HNSHA due to aldolase A deficiency611881C0272066OMIM1381414103850
HP:0001744HP:0006268Fluctuating splenomegaly1ALDOA CL E G H226611881HNSHA due to aldolase A deficiency611881C0272066OMIM1353414103850
HP:0001744HP:0006268Fluctuating splenomegaly1ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM139118294605907
HP:0001744HP:0006268Fluctuating splenomegaly1ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM126018294605907
HP:0001744HP:0006268Fluctuating splenomegaly1ANK1 CL E G H286182900Spherocytosis type 1182900C2674218OMIM1604492612641
HP:0001744HP:0006268Fluctuating splenomegaly1ANK1 CL E G H286182900Spherocytosis type 1182900C2674218OMIM1567492612641
HP:0001744HP:0006268Fluctuating splenomegaly1AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM1467566603401
HP:0001744HP:0006268Fluctuating splenomegaly1AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM1356566603401
HP:0001744HP:0006268Fluctuating splenomegaly1AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1394568607246
HP:0001744HP:0006268Fluctuating splenomegaly1AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1226568607246
HP:0001744HP:0006268Fluctuating splenomegaly1APOA1 CL E G H335425ORPHA1126600107680
HP:0001744HP:0006268Fluctuating splenomegaly1APOA1 CL E G H335425ORPHA199600107680
HP:0001744HP:0006268Fluctuating splenomegaly1APOA1 CL E G H335105200Familial visceral amyloidosis, Ostertag type105200C0268389OMIM1126600107680
HP:0001744HP:0006268Fluctuating splenomegaly1APOA1 CL E G H335105200Familial visceral amyloidosis, Ostertag type105200C0268389OMIM199600107680
HP:0001744HP:0006268Fluctuating splenomegaly1APOC2 CL E G H344207750Apolipoprotein C2 deficiency207750C1720779OMIM159609608083
HP:0001744HP:0006268Fluctuating splenomegaly1APOC2 CL E G H344207750Apolipoprotein C2 deficiency207750C1720779OMIM157609608083
HP:0001744HP:0006268Fluctuating splenomegaly1APOE CL E G H348158029ORPHA178613107741
HP:0001744HP:0006268Fluctuating splenomegaly1APOE CL E G H348158029ORPHA180613107741
HP:0001744HP:0006268Fluctuating splenomegaly1APOE CL E G H348269600Sea-blue histiocyte syndrome269600C0036489OMIM180613107741
HP:0001744HP:0006268Fluctuating splenomegaly1APOE CL E G H348269600Sea-blue histiocyte syndrome269600C0036489OMIM178613107741
HP:0001744HP:0006268Fluctuating splenomegaly1ARSB CL E G H411253200Mucopolysaccharidosis type VI253200C0026709OMIM1625714611542
HP:0001744HP:0006268Fluctuating splenomegaly1ARSB CL E G H411253200Mucopolysaccharidosis type VI253200C0026709OMIM1583714611542
HP:0001744HP:0006268Fluctuating splenomegaly1ASAH1 CL E G H427228000Farber disease228000C0268255OMIM1593735613468
HP:0001744HP:0006268Fluctuating splenomegaly1ASAH1 CL E G H427228000Farber disease228000C0268255OMIM1420735613468
HP:0001744HP:0006268Fluctuating splenomegaly1ATM CL E G H47252416ORPHA111382795607585
HP:0001744HP:0006268Fluctuating splenomegaly1ATM CL E G H47252416ORPHA110320795607585
HP:0001744HP:0006268Fluctuating splenomegaly1ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM1291868300197
HP:0001744HP:0006268Fluctuating splenomegaly1ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM1262868300197
HP:0001744HP:0006268Fluctuating splenomegaly1ATP7B CL E G H540905ORPHA11579870606882
HP:0001744HP:0006268Fluctuating splenomegaly1ATP7B CL E G H540905ORPHA11389870606882
HP:0001744HP:0006268Fluctuating splenomegaly1ATP8B1 CL E G H5205211600Progressive intrahepatic cholestasis211600C0268312OMIM14963706602397
HP:0001744HP:0006268Fluctuating splenomegaly1ATP8B1 CL E G H5205211600Progressive intrahepatic cholestasis211600C0268312OMIM14943706602397
HP:0001744HP:0006268Fluctuating splenomegaly1B2M CL E G H567105200Familial visceral amyloidosis, Ostertag type105200C0268389OMIM139914109700
HP:0001744HP:0006268Fluctuating splenomegaly1B2M CL E G H567105200Familial visceral amyloidosis, Ostertag type105200C0268389OMIM132914109700
HP:0001744HP:0006268Fluctuating splenomegaly1BCL2 CL E G H596545Adducted thumbs Dundar typeORPHA191990151430
HP:0001744HP:0006268Fluctuating splenomegaly1BCL2 CL E G H596545Adducted thumbs Dundar typeORPHA189990151430
HP:0001744HP:0006268Fluctuating splenomegaly1BCL6 CL E G H604545Adducted thumbs Dundar typeORPHA1591001109565
HP:0001744HP:0006268Fluctuating splenomegaly1BCR CL E G H613521ORPHA12171014151410
HP:0001744HP:0006268Fluctuating splenomegaly1BCR CL E G H613521ORPHA12141014151410
HP:0001744HP:0006268Fluctuating splenomegaly1BPGM CL E G H669222800Deficiency of bisphosphoglycerate mutase222800C1291620OMIM1401093613896
HP:0001744HP:0006268Fluctuating splenomegaly1BPGM CL E G H669222800Deficiency of bisphosphoglycerate mutase222800C1291620OMIM1371093613896
HP:0001744HP:0006268Fluctuating splenomegaly1BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM16801097164757
HP:0001744HP:0006268Fluctuating splenomegaly1BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM16181097164757
HP:0001744HP:0006268Fluctuating splenomegaly1BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM137315832606158
HP:0001744HP:0006268Fluctuating splenomegaly1BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM133015832606158
HP:0001744HP:0006268Fluctuating splenomegaly1BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM14091122609019
HP:0001744HP:0006268Fluctuating splenomegaly1BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM13661122609019
HP:0001744HP:0006268Fluctuating splenomegaly1C15orf41 CL E G H84529615631ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib615631C3810185OMIM126929615626
HP:0001744HP:0006268Fluctuating splenomegaly1CA2 CL E G H7602785ORPHA11191373611492
HP:0001744HP:0006268Fluctuating splenomegaly1CA2 CL E G H7602785ORPHA11041373611492
HP:0001744HP:0006268Fluctuating splenomegaly1CALR CL E G H8113318ORPHA1431455109091
HP:0001744HP:0006268Fluctuating splenomegaly1CALR CL E G H8113318ORPHA1391455109091
HP:0001744HP:0006268Fluctuating splenomegaly1CALR CL E G H811187950Essential thrombocythemia187950C0040028OMIM1431455109091
HP:0001744HP:0006268Fluctuating splenomegaly1CALR CL E G H811187950Essential thrombocythemia187950C0040028OMIM1391455109091
HP:0001744HP:0006268Fluctuating splenomegaly1CALR CL E G H811254450Myelofibrosis254450C0001815OMIM1431455109091
HP:0001744HP:0006268Fluctuating splenomegaly1CALR CL E G H811254450Myelofibrosis254450C0001815OMIM1391455109091
HP:0001744HP:0006268Fluctuating splenomegaly1CARD11 CL E G H84433616452B-cell expansion with NFKB and T-cell anergy616452CN231446OMIM154016393607210
HP:0001744HP:0006268Fluctuating splenomegaly1CARD11 CL E G H84433616452B-cell expansion with NFKB and T-cell anergy616452CN231446OMIM145016393607210
HP:0001744HP:0006268Fluctuating splenomegaly1CASP10 CL E G H843603909Autoimmune lymphoproliferative syndrome, type 2A603909C1858968OMIM13461500601762
HP:0001744HP:0006268Fluctuating splenomegaly1CASP10 CL E G H843603909Autoimmune lymphoproliferative syndrome, type 2A603909C1858968OMIM12971500601762
HP:0001744HP:0006268Fluctuating splenomegaly1CASP8 CL E G H841607271Caspase-8 deficiency607271C1846545OMIM12301509601763
HP:0001744HP:0006268Fluctuating splenomegaly1CASP8 CL E G H841607271Caspase-8 deficiency607271C1846545OMIM11941509601763
HP:0001744HP:0006268Fluctuating splenomegaly1CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA115691514601199
HP:0001744HP:0006268Fluctuating splenomegaly1CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA113181514601199
HP:0001744HP:0006268Fluctuating splenomegaly1CASR CL E G H846239200