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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001744HP:0001744Splenomegaly0ABCA1 CL E G H1929OMIM:205400Tangier disease.191
HP:0001744HP:0001744Splenomegaly0ABCA1 CL E G H1929ORPHA:31150Tangier disease191
HP:0001744HP:0001744Splenomegaly0ABCB11 CL E G H864742OMIM:601847Cholestasis, progressive familial intrahepatic 2.146
HP:0001744HP:0001744Splenomegaly0ABCB4 CL E G H524445OMIM:602347Cholestasis, progressive familial intrahepatic, 3.111
HP:0001744HP:0001744Splenomegaly0ABCD3 CL E G H582567OMIM:616278BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS55
HP:0001744HP:0001744Splenomegaly0ABCG8 CL E G H6424113887OMIM:210250Sitosterolemia 1.76
HP:0001744HP:0001744Splenomegaly0ABL1 CL E G H2576ORPHA:521Chronic myeloid leukemiaHP:0040282 - Frequent51
HP:0001744HP:0001744Splenomegaly0ADA CL E G H100186ORPHA:39041Omenn syndromeHP:0040282 - Frequent75
HP:0001744HP:0001744Splenomegaly0ADA CL E G H100186OMIM:102700Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency.75
HP:0001744HP:0001744Splenomegaly0ADA2 CL E G H518161839OMIM:615688Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome22
HP:0001744HP:0001744Splenomegaly0ADAMTS3 CL E G H9508219ORPHA:2136Hennekam syndromeHP:0040282 - Frequent1
HP:0001744HP:0001744Splenomegaly0ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndrome116
HP:0001744HP:0001744Splenomegaly0ADAR CL E G H103225OMIM:615010Aicardi-Goutieres syndrome 6116
HP:0001744HP:0001744Splenomegaly0AFF4 CL E G H2712517869OMIM:616368CHOPS syndrome6
HP:0001744HP:0001744Splenomegaly0AGA CL E G H175318ORPHA:93AspartylglucosaminuriaHP:0040283 - Occasional76
HP:0001744HP:0001744Splenomegaly0AGPAT2 CL E G H10555325OMIM:608594Lipodystrophy, congenital generalized, type 1.85
HP:0001744HP:0001744Splenomegaly0AKR1D1 CL E G H6718388OMIM:235555Bile acid synthesis defect, congenital, 2.62
HP:0001744HP:0001744Splenomegaly0AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040283 - Occasional54
HP:0001744HP:0001744Splenomegaly0AKT1 CL E G H207391OMIM:176920Proteus syndrome, somatic.54
HP:0001744HP:0001744Splenomegaly0ALAS2 CL E G H212397ORPHA:75563X-linked sideroblastic anemiaHP:0040283 - Occasional72
HP:0001744HP:0001744Splenomegaly0ALDOA CL E G H226414OMIM:611881Glycogen storage disease XII.50
HP:0001744HP:0001744Splenomegaly0ALG1 CL E G H5605218294OMIM:608540Congenital disorder of glycosylation, type Ik.58
HP:0001744HP:0001744Splenomegaly0ALG9 CL E G H7979615672OMIM:608776Congenital disorder of glycosylation, type Il93
HP:0001744HP:0001744Splenomegaly0ALMS1 CL E G H7840428ORPHA:64Alström syndromeHP:0040283 - Occasional404
HP:0001744HP:0001744Splenomegaly0ALPK1 CL E G H8021620917OMIM:614979Splenomegaly, cytopenia, and vision loss.
HP:0001744HP:0001744Splenomegaly0ANK1 CL E G H286492ORPHA:2510668p11.2 deletion syndromeHP:0040283 - Occasional150
HP:0001744HP:0001744Splenomegaly0ANK1 CL E G H286492ORPHA:822Hereditary spherocytosisHP:0040282 - Frequent150
HP:0001744HP:0001744Splenomegaly0ANK1 CL E G H286492OMIM:182900Spherocytosis, type 1.150
HP:0001744HP:0001744Splenomegaly0ANKRD55 CL E G H7972225681ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0001744HP:0001744Splenomegaly0AP3B1 CL E G H8546566OMIM:608233Hermansky-Pudlak syndrome 283
HP:0001744HP:0001744Splenomegaly0AP3D1 CL E G H8943568OMIM:617050HERMANSKY-PUDLAK SYNDROME 10; HPS101
HP:0001744HP:0001744Splenomegaly0APOA1 CL E G H335600OMIM:105200Amyloidosis, familial visceral.40
HP:0001744HP:0001744Splenomegaly0APOC2 CL E G H344609OMIM:207750APOLIPOPROTEIN C-II DEFICIENCY27
HP:0001744HP:0001744Splenomegaly0APOE CL E G H348613OMIM:269600Sea-Blue histiocyte disease.39
HP:0001744HP:0001744Splenomegaly0APOE CL E G H348613ORPHA:158029Sea-blue histiocytosisHP:0040281 - Very frequent39
HP:0001744HP:0001744Splenomegaly0ARSB CL E G H411714OMIM:253200Mucopolysaccharidosis, type VI.120
HP:0001744HP:0001744Splenomegaly0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional1
HP:0001744HP:0001744Splenomegaly0ASAH1 CL E G H427735ORPHA:333Farber disease78
HP:0001744HP:0001744Splenomegaly0ASAH1 CL E G H427735OMIM:228000Farber lipogranulomatosis.78
HP:0001744HP:0001744Splenomegaly0ASXL1 CL E G H17102318318ORPHA:98850Aggressive systemic mastocytosis145
HP:0001744HP:0001744Splenomegaly0ASXL1 CL E G H17102318318ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040283 - Occasional145
HP:0001744HP:0001744Splenomegaly0ATM CL E G H472795ORPHA:52416Mantle cell lymphomaHP:0040282 - Frequent3267
HP:0001744HP:0001744Splenomegaly0ATP6AP1 CL E G H537868OMIM:300972IMMUNODEFICIENCY 47; IMD475
HP:0001744HP:0001744Splenomegaly0ATP6V1B2 CL E G H526854ORPHA:3473Zimmermann-Laband syndromeHP:0040283 - Occasional5
HP:0001744HP:0001744Splenomegaly0ATP7B CL E G H540870OMIM:277900Wilson disease315
HP:0001744HP:0001744Splenomegaly0ATP7B CL E G H540870ORPHA:905Wilson diseaseHP:0040281 - Very frequent315
HP:0001744HP:0001744Splenomegaly0ATP8B1 CL E G H52053706OMIM:211600Cholestasis, progressive familial intrahepatic 1144
HP:0001744HP:0001744Splenomegaly0ATRX CL E G H546886ORPHA:231401Alpha-thalassemia-myelodysplastic syndromeHP:0040283 - Occasional169
HP:0001744HP:0001744Splenomegaly0B2M CL E G H567914OMIM:105200Amyloidosis, familial visceral.8
HP:0001744HP:0001744Splenomegaly0B4GALT1 CL E G H2683924ORPHA:79332B4GALT1-CDG85
HP:0001744HP:0001744Splenomegaly0BACH2 CL E G H6046814078OMIM:618394IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0001744HP:0001744Splenomegaly0BCL11A CL E G H5333513221ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome11
HP:0001744HP:0001744Splenomegaly0BCL2 CL E G H596990ORPHA:545Follicular lymphomaHP:0040282 - Frequent1
HP:0001744HP:0001744Splenomegaly0BCL6 CL E G H6041001ORPHA:545Follicular lymphomaHP:0040282 - Frequent1
HP:0001744HP:0001744Splenomegaly0BCR CL E G H6131014ORPHA:521Chronic myeloid leukemiaHP:0040282 - Frequent5
HP:0001744HP:0001744Splenomegaly0BMP2 CL E G H6501069OMIM:235200Hemochromatosis, type 1.13
HP:0001744HP:0001744Splenomegaly0BMP6 CL E G H6541073ORPHA:465508Symptomatic form of hemochromatosis type 1HP:0040283 - Occasional
HP:0001744HP:0001744Splenomegaly0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1.276
HP:0001744HP:0001744Splenomegaly0BRCA1 CL E G H6721100ORPHA:1333Familial pancreatic carcinoma5769
HP:0001744HP:0001744Splenomegaly0BRCA2 CL E G H6751101ORPHA:1333Familial pancreatic carcinoma7642
HP:0001744HP:0001744Splenomegaly0BSCL2 CL E G H2658015832OMIM:269700Lipodystrophy, congenital generalized, type 2.105
HP:0001744HP:0001744Splenomegaly0BTD CL E G H6861122OMIM:253260Biotinidase deficiencymultiple carboxylase deficiency, late-onset.223
HP:0001744HP:0001744Splenomegaly0BTNL2 CL E G H562441142OMIM:612387Sarcoidosis, susceptibility to, 2.1
HP:0001744HP:0001744Splenomegaly0C4A CL E G H7201323ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0001744HP:0001744Splenomegaly0CA2 CL E G H7601373OMIM:259730Osteopetrosis, autosomal recessive 329
HP:0001744HP:0001744Splenomegaly0CALR CL E G H8111455ORPHA:131Budd-Chiari syndromeHP:0040281 - Very frequent1
HP:0001744HP:0001744Splenomegaly0CALR CL E G H8111455ORPHA:3318Essential thrombocythemiaHP:0040282 - Frequent1
HP:0001744HP:0001744Splenomegaly0CALR CL E G H8111455OMIM:254450Myelofibrosismyelofibrosis with myeloid metaplasia, included1
HP:0001744HP:0001744Splenomegaly0CALR CL E G H8111455ORPHA:824Primary myelofibrosisHP:0040282 - Frequent1
HP:0001744HP:0001744Splenomegaly0CALR CL E G H8111455OMIM:187950THROMBOCYTHEMIA 1; THCYT11
HP:0001744HP:0001744Splenomegaly0CARD11 CL E G H8443316393OMIM:616452B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA45
HP:0001744HP:0001744Splenomegaly0CASK CL E G H85731497OMIM:300908Anemia, nonspherocytic hemolytic, due to g6pd deficiencyHP:0040284 - Very rare118
HP:0001744HP:0001744Splenomegaly0CASP10 CL E G H8431500ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040281 - Very frequent87
HP:0001744HP:0001744Splenomegaly0CASP10 CL E G H8431500OMIM:603909Autoimmune lymphoproliferative syndrome, type IIA87
HP:0001744HP:0001744Splenomegaly0CASP8 CL E G H8411509OMIM:607271CASPASE 8 DEFICIENCY37
HP:0001744HP:0001744Splenomegaly0CASR CL E G H8461514OMIM:239200Hyperparathyroidism, neonatal severe.272
HP:0001744HP:0001744Splenomegaly0CASR CL E G H8461514ORPHA:417Neonatal severe primary hyperparathyroidismHP:0040281 - Very frequent272
HP:0001744HP:0001744Splenomegaly0CAV1 CL E G H8571527OMIM:612526Lipodystrophy, congenital generalized, type 3.11
HP:0001744HP:0001744Splenomegaly0CAVIN1 CL E G H2841199688OMIM:613327Lipodystrophy, congenital generalized, type 4.48
HP:0001744HP:0001744Splenomegaly0CBL CL E G H8671541ORPHA:98850Aggressive systemic mastocytosis317
HP:0001744HP:0001744Splenomegaly0CC2D2A CL E G H5754529253ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional247
HP:0001744HP:0001744Splenomegaly0CCBE1 CL E G H14737229426ORPHA:2136Hennekam syndromeHP:0040282 - Frequent147
HP:0001744HP:0001744Splenomegaly0CCDC115 CL E G H8431728178OMIM:616828Congenital disorder of glycosylation, type IIO.3
HP:0001744HP:0001744Splenomegaly0CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndromeHP:0040284 - Very rare
HP:0001744HP:0001744Splenomegaly0CCND1 CL E G H5951582ORPHA:52416Mantle cell lymphomaHP:0040282 - Frequent1
HP:0001744HP:0001744Splenomegaly0CCND1 CL E G H5951582ORPHA:29073Multiple myelomaHP:0040284 - Very rare1
HP:0001744HP:0001744Splenomegaly0CCR1 CL E G H12301602ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0001744HP:0001744Splenomegaly0CD19 CL E G H9301633ORPHA:1572Common variable immunodeficiencyHP:0040282 - Frequent38
HP:0001744HP:0001744Splenomegaly0CD19 CL E G H9301633OMIM:240500Immunodeficiency, common variable, 2.38
HP:0001744HP:0001744Splenomegaly0CD247 CL E G H9191677ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis8
HP:0001744HP:0001744Splenomegaly0CD247 CL E G H9191677ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta8
HP:0001744HP:0001744Splenomegaly0CD27 CL E G H93911922OMIM:615122Lymphoproliferative syndrome 24
HP:0001744HP:0001744Splenomegaly0CD28 CL E G H9401653ORPHA:2584Classic mycosis fungoidesHP:0040283 - Occasional
HP:0001744HP:0001744Splenomegaly0CD28 CL E G H9401653ORPHA:3162Sézary syndromeHP:0040282 - Frequent
HP:0001744HP:0001744Splenomegaly0CD3D CL E G H9151673ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta18
HP:0001744HP:0001744Splenomegaly0CD3E CL E G H9161674ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta24
HP:0001744HP:0001744Splenomegaly0CD40LG CL E G H95911935OMIM:308230Immunodeficiency, X-linked, with hyper-IgM.33
HP:0001744HP:0001744Splenomegaly0CD70 CL E G H97011937OMIM:618261LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0001744HP:0001744Splenomegaly0CD81 CL E G H9751701ORPHA:1572Common variable immunodeficiencyHP:0040282 - Frequent1
HP:0001744HP:0001744Splenomegaly0CDAN1 CL E G H1460591713OMIM:224120Anemia, congenital dyserythropoietic, type Ia.86
HP:0001744HP:0001744Splenomegaly0CDIN1 CL E G H8452926929OMIM:615631Anemia, congenital dyserythropoietic, type Ib.
HP:0001744HP:0001744Splenomegaly0CDKN2A CL E G H10291787ORPHA:1333Familial pancreatic carcinoma289
HP:0001744HP:0001744Splenomegaly0CFAP410 CL E G H7551260OMIM:602271Spondylometaphyseal dysplasia, axialHP:0040284 - Very rare
HP:0001744HP:0001744Splenomegaly0CFTR CL E G H10801884OMIM:219700Cystic fibrosis1371
HP:0001744HP:0001744Splenomegaly0CHD7 CL E G H5563620626ORPHA:39041Omenn syndromeHP:0040282 - Frequent515
HP:0001744HP:0001744Splenomegaly0CLCN7 CL E G H11862025ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent102
HP:0001744HP:0001744Splenomegaly0CLCN7 CL E G H11862025OMIM:618541Hypopigmentation, organomegaly, and delayed myelination and development.102
HP:0001744HP:0001744Splenomegaly0CLCN7 CL E G H11862025ORPHA:210110Intermediate osteopetrosis102
HP:0001744HP:0001744Splenomegaly0CLCN7 CL E G H11862025OMIM:611490Osteopetrosis, autosomal recessive 4.102
HP:0001744HP:0001744Splenomegaly0CLDN1 CL E G H90762032ORPHA:59303Neonatal ichthyosis-sclerosing cholangitis syndromeHP:0040281 - Very frequent11
HP:0001744HP:0001744Splenomegaly0CLPB CL E G H8157030664OMIM:619813NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT; SCN938
HP:0001744HP:0001744Splenomegaly0COG1 CL E G H93826545ORPHA:263508COG1-CDG52
HP:0001744HP:0001744Splenomegaly0COG4 CL E G H2583918620ORPHA:263501COG4-CDG67
HP:0001744HP:0001744Splenomegaly0COG4 CL E G H2583918620OMIM:613489Congenital disorder of glycosylation, type IIjHP:0040283 - Occasional67
HP:0001744HP:0001744Splenomegaly0COG5 CL E G H1046614857ORPHA:263487COG5-CDG79
HP:0001744HP:0001744Splenomegaly0COG6 CL E G H5751118621OMIM:614576CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L71
HP:0001744HP:0001744Splenomegaly0COG7 CL E G H9194918622ORPHA:79333COG7-CDG64
HP:0001744HP:0001744Splenomegaly0COG7 CL E G H9194918622OMIM:608779Congenital disorder of glycosylation, type IIe.64
HP:0001744HP:0001744Splenomegaly0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional6
HP:0001744HP:0001744Splenomegaly0COX10 CL E G H13522260OMIM:619046MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN382
HP:0001744HP:0001744Splenomegaly0COX4I2 CL E G H8470116232OMIM:612714Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis.13
HP:0001744HP:0001744Splenomegaly0CPOX CL E G H13712321OMIM:121300Coproporphyria.72
HP:0001744HP:0001744Splenomegaly0CPOX CL E G H13712321OMIM:618892Harderoporphyria.72
HP:0001744HP:0001744Splenomegaly0CR2 CL E G H13802336ORPHA:1572Common variable immunodeficiencyHP:0040282 - Frequent10
HP:0001744HP:0001744Splenomegaly0CR2 CL E G H13802336OMIM:240500Immunodeficiency, common variable, 2.10
HP:0001744HP:0001744Splenomegaly0CR2 CL E G H13802336OMIM:614699IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID710
HP:0001744HP:0001744Splenomegaly0CSF3R CL E G H14412439OMIM:162830Neutrophilia, hereditary34
HP:0001744HP:0001744Splenomegaly0CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional160
HP:0001744HP:0001744Splenomegaly0CTLA4 CL E G H14932505OMIM:616100AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS510
HP:0001744HP:0001744Splenomegaly0CTLA4 CL E G H14932505ORPHA:2584Classic mycosis fungoidesHP:0040283 - Occasional10
HP:0001744HP:0001744Splenomegaly0CTLA4 CL E G H14932505ORPHA:3162Sézary syndromeHP:0040282 - Frequent10
HP:0001744HP:0001744Splenomegaly0CTNS CL E G H14972518OMIM:219800Cystinosis, nephropathic.178
HP:0001744HP:0001744Splenomegaly0CTSA CL E G H54769251OMIM:256540Galactosialidosis51
HP:0001744HP:0001744Splenomegaly0CTSK CL E G H15132536ORPHA:763PycnodysostosisHP:0040283 - Occasional39
HP:0001744HP:0001744Splenomegaly0CYBA CL E G H15352577ORPHA:379Chronic granulomatous diseaseHP:0040283 - Occasional27
HP:0001744HP:0001744Splenomegaly0CYBA CL E G H15352577OMIM:233690GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE.27
HP:0001744HP:0001744Splenomegaly0CYBB CL E G H15362578ORPHA:379Chronic granulomatous diseaseHP:0040283 - Occasional111
HP:0001744HP:0001744Splenomegaly0CYBB CL E G H15362578OMIM:306400Chronic granulomatous disease, X-linked.111
HP:0001744HP:0001744Splenomegaly0CYBC1 CL E G H7941528672ORPHA:379Chronic granulomatous diseaseHP:0040283 - Occasional
HP:0001744HP:0001744Splenomegaly0CYBC1 CL E G H7941528672OMIM:618935GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0001744HP:0001744Splenomegaly0CYP7B1 CL E G H94202652OMIM:613812Bile acid synthesis defect, congenital, 3.57
HP:0001744HP:0001744Splenomegaly0CYP7B1 CL E G H94202652ORPHA:79302Congenital bile acid synthesis defect type 3HP:0040281 - Very frequent57
HP:0001744HP:0001744Splenomegaly0DCDC2 CL E G H5147318141OMIM:616217Nephronophthisis 19.8
HP:0001744HP:0001744Splenomegaly0DCDC2 CL E G H5147318141OMIM:617394Sclerosing cholangitis, neonatal.8
HP:0001744HP:0001744Splenomegaly0DCDC2 CL E G H5147318141ORPHA:84081Senior-Boichis syndrome8
HP:0001744HP:0001744Splenomegaly0DCLRE1C CL E G H6442117642OMIM:603554Omenn syndrome.94
HP:0001744HP:0001744Splenomegaly0DCLRE1C CL E G H6442117642ORPHA:39041Omenn syndromeHP:0040282 - Frequent94
HP:0001744HP:0001744Splenomegaly0DCLRE1C CL E G H6442117642OMIM:602450Severe combined immunodeficiency with sensitivity to ionizing radiation94
HP:0001744HP:0001744Splenomegaly0DDRGK1 CL E G H6599216110OMIM:602557Spondyloepimetaphyseal dysplasia, Shohat type.
HP:0001744HP:0001744Splenomegaly0DDRGK1 CL E G H6599216110ORPHA:93352Spondyloepimetaphyseal dysplasia, Shohat type
HP:0001744HP:0001744Splenomegaly0DGUOK CL E G H17162858OMIM:251880Mitochondrial DNA depletion syndrome 3 (hepatocerebral type).57
HP:0001744HP:0001744Splenomegaly0DGUOK CL E G H17162858OMIM:617068Portal hypertension, noncirrhotic.57
HP:0001744HP:0001744Splenomegaly0DHCR24 CL E G H17182859ORPHA:35107DesmosterolosisHP:0040283 - Occasional72
HP:0001744HP:0001744Splenomegaly0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0001744HP:0001744Splenomegaly0DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional65
HP:0001744HP:0001744Splenomegaly0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0001744HP:0001744Splenomegaly0DLL4 CL E G H545672910OMIM:616589Adams-Oliver syndrome 69
HP:0001744HP:0001744Splenomegaly0DNASE1L3 CL E G H17762959ORPHA:36412Hypocomplementemic urticarial vasculitisHP:0040283 - Occasional3
HP:0001744HP:0001744Splenomegaly0DNASE2 CL E G H17772960OMIM:619858
HP:0001744HP:0001744Splenomegaly0DPM1 CL E G H88133005OMIM:608799Congenital disorder of glycosylation, type IE.27
HP:0001744HP:0001744Splenomegaly0DPM1 CL E G H88133005ORPHA:79322DPM1-CDG27
HP:0001744HP:0001744Splenomegaly0DYNC2LI1 CL E G H5162624595OMIM:617088Short-rib thoracic dysplasia 15 with polydactyly.7
HP:0001744HP:0001744Splenomegaly0DZIP1L CL E G H19922126551ORPHA:731Autosomal recessive polycystic kidney diseaseHP:0040282 - Frequent4
HP:0001744HP:0001744Splenomegaly0DZIP1L CL E G H19922126551OMIM:617610Polycystic kidney disease 54
HP:0001744HP:0001744Splenomegaly0EPB41 CL E G H20353377OMIM:611804Elliptocytosis 1.6
HP:0001744HP:0001744Splenomegaly0EPB41 CL E G H20353377ORPHA:288Hereditary elliptocytosisHP:0040283 - Occasional6
HP:0001744HP:0001744Splenomegaly0EPB42 CL E G H20383381ORPHA:822Hereditary spherocytosisHP:0040282 - Frequent51
HP:0001744HP:0001744Splenomegaly0EPB42 CL E G H20383381OMIM:612690SPHEROCYTOSIS, TYPE 5; SPH551
HP:0001744HP:0001744Splenomegaly0ERAP1 CL E G H5175218173ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0001744HP:0001744Splenomegaly0ERBB3 CL E G H20653431OMIM:133180Erythroleukemia, familial, susceptibility to.12
HP:0001744HP:0001744Splenomegaly0ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3HP:0040284 - Very rare199
HP:0001744HP:0001744Splenomegaly0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B.199
HP:0001744HP:0001744Splenomegaly0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A.55
HP:0001744HP:0001744Splenomegaly0ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 3HP:0040284 - Very rare55
HP:0001744HP:0001744Splenomegaly0F5 CL E G H21533542ORPHA:131Budd-Chiari syndromeHP:0040281 - Very frequent159
HP:0001744HP:0001744Splenomegaly0FAH CL E G H21843579ORPHA:882Tyrosinemia type 1HP:0040283 - Occasional107
HP:0001744HP:0001744Splenomegaly0FAH CL E G H21843579OMIM:276700Tyrosinemia, type I.107
HP:0001744HP:0001744Splenomegaly0FARSA CL E G H21933592OMIM:619013RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0001744HP:0001744Splenomegaly0FAS CL E G H35511920OMIM:601859Autoimmune lymphoproliferative syndrome.59
HP:0001744HP:0001744Splenomegaly0FAS CL E G H35511920ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040281 - Very frequent59
HP:0001744HP:0001744Splenomegaly0FAS CL E G H35511920ORPHA:117Behçet diseaseHP:0040283 - Occasional59
HP:0001744HP:0001744Splenomegaly0FASLG CL E G H35611936ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040281 - Very frequent37
HP:0001744HP:0001744Splenomegaly0FASLG CL E G H35611936OMIM:601859Autoimmune lymphoproliferative syndrome.37
HP:0001744HP:0001744Splenomegaly0FAT4 CL E G H7963323109ORPHA:2136Hennekam syndromeHP:0040282 - Frequent114
HP:0001744HP:0001744Splenomegaly0FCGR2A CL E G H22123616OMIM:219700Cystic fibrosis6
HP:0001744HP:0001744Splenomegaly0FCHO1 CL E G H2314929002OMIM:619164IMMUNODEFICIENCY 76; IMD76
HP:0001744HP:0001744Splenomegaly0FERMT3 CL E G H8370623151OMIM:612840Leukocyte adhesion deficiency, type III23
HP:0001744HP:0001744Splenomegaly0FGA CL E G H22433661OMIM:105200Amyloidosis, familial visceral.47
HP:0001744HP:0001744Splenomegaly0FGFR2 CL E G H22633689OMIM:614592Bent bone dysplasia syndrome175
HP:0001744HP:0001744Splenomegaly0FGFR2 CL E G H22633689ORPHA:313855FGFR2-related bent bone dysplasia175
HP:0001744HP:0001744Splenomegaly0FMO3 CL E G H23283771OMIM:602079Trimethylaminuria.55
HP:0001744HP:0001744Splenomegaly0FOCAD CL E G H5491423377OMIM:6199913
HP:0001744HP:0001744Splenomegaly0FOXP3 CL E G H509436106ORPHA:37042Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndromeHP:0040284 - Very rare32
HP:0001744HP:0001744Splenomegaly0FUCA1 CL E G H25174006OMIM:230000FUCOSIDOSIS.43
HP:0001744HP:0001744Splenomegaly0G6PC3 CL E G H9257924861OMIM:612541Neutropenia, severe congenital, 4, autosomal recessive.37
HP:0001744HP:0001744Splenomegaly0G6PD CL E G H25394057OMIM:300908Anemia, nonspherocytic hemolytic, due to g6pd deficiencyHP:0040284 - Very rare101
HP:0001744HP:0001744Splenomegaly0GAA CL E G H25484065OMIM:232300Glycogen storage disease II.407
HP:0001744HP:0001744Splenomegaly0GALE CL E G H25824116OMIM:230350Galactose epimerase deficiency.52
HP:0001744HP:0001744Splenomegaly0GALK1 CL E G H25844118ORPHA:79237Galactokinase deficiency23
HP:0001744HP:0001744Splenomegaly0GATA1 CL E G H26234170ORPHA:231393Beta-thalassemia-X-linked thrombocytopenia syndromeHP:0040281 - Very frequent29
HP:0001744HP:0001744Splenomegaly0GATA1 CL E G H26234170ORPHA:79277Congenital erythropoietic porphyriaHP:0040283 - Occasional29
HP:0001744HP:0001744Splenomegaly0GATA1 CL E G H26234170OMIM:314050Thrombocytopenia with beta-thalassemia, X-linked.29
HP:0001744HP:0001744Splenomegaly0GATA2 CL E G H26244171ORPHA:3226Deafness-lymphedema-leukemia syndromeHP:0040282 - Frequent137
HP:0001744HP:0001744Splenomegaly0GBA1 CL E G H26294177ORPHA:85212Fetal Gaucher diseaseHP:0040282 - Frequent
HP:0001744HP:0001744Splenomegaly0GBA1 CL E G H26294177ORPHA:77259Gaucher disease type 1HP:0040281 - Very frequent
HP:0001744HP:0001744Splenomegaly0GBA1 CL E G H26294177ORPHA:77260Gaucher disease type 2HP:0040281 - Very frequent
HP:0001744HP:0001744Splenomegaly0GBA1 CL E G H26294177ORPHA:77261Gaucher disease type 3HP:0040281 - Very frequent
HP:0001744HP:0001744Splenomegaly0GBA1 CL E G H26294177OMIM:608013Gaucher disease, perinatal lethal.
HP:0001744HP:0001744Splenomegaly0GBA1 CL E G H26294177OMIM:230800Gaucher disease, type I.
HP:0001744HP:0001744Splenomegaly0GBA1 CL E G H26294177OMIM:230900Gaucher disease, type II.
HP:0001744HP:0001744Splenomegaly0GBA1 CL E G H26294177OMIM:231000Gaucher disease, type III.
HP:0001744HP:0001744Splenomegaly0GBA1 CL E G H26294177OMIM:231005Gaucher disease, type IIIC.
HP:0001744HP:0001744Splenomegaly0GBA1 CL E G H26294177ORPHA:2072Gaucher disease-ophthalmoplegia-cardiovascular calcification syndromeHP:0040283 - Occasional
HP:0001744HP:0001744Splenomegaly0GBE1 CL E G H26324180OMIM:232500Glycogen storage disease IV86
HP:0001744HP:0001744Splenomegaly0GCLC CL E G H27294311ORPHA:33574Glutamate-cysteine ligase deficiency2
HP:0001744HP:0001744Splenomegaly0GEMIN4 CL E G H5062815717OMIM:617913Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities1
HP:0001744HP:0001744Splenomegaly0GIMAP5 CL E G H5534018005OMIM:619463PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0001744HP:0001744Splenomegaly0GLB1 CL E G H27204298ORPHA:79255GM1 gangliosidosis type 1120
HP:0001744HP:0001744Splenomegaly0GLB1 CL E G H27204298OMIM:230500GM1-gangliosidosis, type I120
HP:0001744HP:0001744Splenomegaly0GLIS3 CL E G H16979228510OMIM:610199Diabetes mellitus, neonatal, with congenital hypothyroidismHP:0040283 - Occasional143
HP:0001744HP:0001744Splenomegaly0GLRX5 CL E G H5121820134OMIM:616860Anemia, sideroblastic, 3, pyridoxine-refractory.17
HP:0001744HP:0001744Splenomegaly0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001744HP:0001744Splenomegaly0GNE CL E G H1002023657OMIM:269921SIALURIA.173
HP:0001744HP:0001744Splenomegaly0GNE CL E G H1002023657ORPHA:3166Sialuria173
HP:0001744HP:0001744Splenomegaly0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta.240
HP:0001744HP:0001744Splenomegaly0GNPTAB CL E G H7915829670ORPHA:576Mucolipidosis type IIHP:0040284 - Very rare240
HP:0001744HP:0001744Splenomegaly0GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID.69
HP:0001744HP:0001744Splenomegaly0GP1BA CL E G H28114439OMIM:153670Bernard-Soulier syndrome, type A2, autosomal dominant.23
HP:0001744HP:0001744Splenomegaly0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional8
HP:0001744HP:0001744Splenomegaly0GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040281 - Very frequent73
HP:0001744HP:0001744Splenomegaly0GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0001744HP:0001744Splenomegaly0GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040281 - Very frequent
HP:0001744HP:0001744Splenomegaly0GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0001744HP:0001744Splenomegaly0GPD1 CL E G H28194455OMIM:614480Hypertriglyceridemia, transient infantileHP:0040283 - Occasional3
HP:0001744HP:0001744Splenomegaly0GPI CL E G H28214458OMIM:613470Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency.12
HP:0001744HP:0001744Splenomegaly0GPIHBP1 CL E G H33832824945OMIM:615947Hyperlipoproteinemia, type ID.12
HP:0001744HP:0001744Splenomegaly0GPR35 CL E G H28594492ORPHA:171Primary sclerosing cholangitisHP:0040282 - Frequent2
HP:0001744HP:0001744Splenomegaly0GUSB CL E G H29904696ORPHA:584Mucopolysaccharidosis type 7HP:0040282 - Frequent54
HP:0001744HP:0001744Splenomegaly0GUSB CL E G H29904696OMIM:253220Mucopolysaccharidosis, type VII.54
HP:0001744HP:0001744Splenomegaly0GYPC CL E G H29954704ORPHA:288Hereditary elliptocytosisHP:0040283 - Occasional5
HP:0001744HP:0001744Splenomegaly0HAMP CL E G H5781715598OMIM:613313Hemochromatosis, type 2B.15
HP:0001744HP:0001744Splenomegaly0HAVCR2 CL E G H8486818437ORPHA:86884Subcutaneous panniculitis-like T-cell lymphoma
HP:0001744HP:0001744Splenomegaly0HAVCR2 CL E G H8486818437OMIM:618398T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKEHP:0040284 - Very rare
HP:0001744HP:0001744Splenomegaly0HBA1 CL E G H30394823ORPHA:163596Hb Bart's hydrops fetalisHP:0040282 - Frequent200
HP:0001744HP:0001744Splenomegaly0HBA1 CL E G H30394823OMIM:613978Hemoglobin H disease.200
HP:0001744HP:0001744Splenomegaly0HBA2 CL E G H30404824ORPHA:163596Hb Bart's hydrops fetalisHP:0040282 - Frequent88
HP:0001744HP:0001744Splenomegaly0HBA2 CL E G H30404824OMIM:613978Hemoglobin H disease.88
HP:0001744HP:0001744Splenomegaly0HBB CL E G H30434827ORPHA:231222Beta-thalassemia intermediaHP:0040283 - Occasional580
HP:0001744HP:0001744Splenomegaly0HBB CL E G H30434827ORPHA:231214Beta-thalassemia majorHP:0040282 - Frequent580
HP:0001744HP:0001744Splenomegaly0HBB CL E G H30434827OMIM:603902BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE580
HP:0001744HP:0001744Splenomegaly0HBB CL E G H30434827ORPHA:231226Dominant beta-thalassemiaHP:0040283 - Occasional580
HP:0001744HP:0001744Splenomegaly0HBB CL E G H30434827ORPHA:231242Hemoglobin C-beta-thalassemia syndromeHP:0040281 - Very frequent580
HP:0001744HP:0001744Splenomegaly0HBB CL E G H30434827ORPHA:90039Hemoglobin D disease580
HP:0001744HP:0001744Splenomegaly0HBB CL E G H30434827ORPHA:2133Hemoglobin E diseaseHP:0040283 - Occasional580
HP:0001744HP:0001744Splenomegaly0HBB CL E G H30434827ORPHA:46532Hereditary persistence of fetal hemoglobin-beta-thalassemia syndromeHP:0040281 - Very frequent580
HP:0001744HP:0001744Splenomegaly0HBB CL E G H30434827ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome580
HP:0001744HP:0001744Splenomegaly0HBB CL E G H30434827OMIM:603903Sickle cell anemia.580
HP:0001744HP:0001744Splenomegaly0HBG1 CL E G H30474831ORPHA:46532Hereditary persistence of fetal hemoglobin-beta-thalassemia syndromeHP:0040281 - Very frequent35
HP:0001744HP:0001744Splenomegaly0HBG1 CL E G H30474831ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome35
HP:0001744HP:0001744Splenomegaly0HBG2 CL E G H30484832ORPHA:46532Hereditary persistence of fetal hemoglobin-beta-thalassemia syndromeHP:0040281 - Very frequent50
HP:0001744HP:0001744Splenomegaly0HBG2 CL E G H30484832ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome50
HP:0001744HP:0001744Splenomegaly0HEXB CL E G H30744879OMIM:268800Sandhoff disease80
HP:0001744HP:0001744Splenomegaly0HEXB CL E G H30744879ORPHA:309155Sandhoff disease, infantile form80
HP:0001744HP:0001744Splenomegaly0HFE CL E G H30774886OMIM:235200Hemochromatosis, type 1.38
HP:0001744HP:0001744Splenomegaly0HFE CL E G H30774886ORPHA:465508Symptomatic form of hemochromatosis type 1HP:0040283 - Occasional38
HP:0001744HP:0001744Splenomegaly0HGSNAT CL E G H13805026527OMIM:252930Mucopolysaccharidosis type IIIC.86
HP:0001744HP:0001744Splenomegaly0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional3
HP:0001744HP:0001744Splenomegaly0HJV CL E G H1487384887OMIM:602390Hemochromatosis, type 2A.
HP:0001744HP:0001744Splenomegaly0HK1 CL E G H30984922OMIM:235700Hemolytic anemia, nonspherocytic, due to hexokinase deficiency.11
HP:0001744HP:0001744Splenomegaly0HLA-B CL E G H31064932ORPHA:117Behçet diseaseHP:0040283 - Occasional4
HP:0001744HP:0001744Splenomegaly0HLA-DRB1 CL E G H31234948ORPHA:545Follicular lymphomaHP:0040282 - Frequent2
HP:0001744HP:0001744Splenomegaly0HLA-DRB1 CL E G H31234948OMIM:181000Sarcoidosis, susceptibility to, 1HP:0040283 - Occasional2
HP:0001744HP:0001744Splenomegaly0HLA-DRB1 CL E G H31234948ORPHA:85414Systemic-onset juvenile idiopathic arthritisHP:0040283 - Occasional2
HP:0001744HP:0001744Splenomegaly0HPGD CL E G H32485154ORPHA:2796PachydermoperiostosisHP:0040283 - Occasional55
HP:0001744HP:0001744Splenomegaly0HSD17B4 CL E G H32955213OMIM:261515D-bifunctional protein deficiency98
HP:0001744HP:0001744Splenomegaly0HSD3B7 CL E G H8027018324OMIM:607765Bile acid synthesis defect, congenital, 1.26
HP:0001744HP:0001744Splenomegaly0HSD3B7 CL E G H8027018324ORPHA:79301Congenital bile acid synthesis defect type 1HP:0040282 - Frequent26
HP:0001744HP:0001744Splenomegaly0IARS1 CL E G H33765330ORPHA:541423Growth delay-intellectual disability-hepatopathy syndrome
HP:0001744HP:0001744Splenomegaly0ICOS CL E G H298515351ORPHA:1572Common variable immunodeficiencyHP:0040282 - Frequent32
HP:0001744HP:0001744Splenomegaly0ICOS CL E G H298515351OMIM:607594Immunodeficiency, common variable, 1.32
HP:0001744HP:0001744Splenomegaly0ICOS CL E G H298515351OMIM:240500Immunodeficiency, common variable, 2.32
HP:0001744HP:0001744Splenomegaly0IDS CL E G H34235389ORPHA:217093Mucopolysaccharidosis type 2, attenuated formHP:0040283 - Occasional86
HP:0001744HP:0001744Splenomegaly0IDS CL E G H34235389ORPHA:217085Mucopolysaccharidosis type 2, severe formHP:0040283 - Occasional86
HP:0001744HP:0001744Splenomegaly0IDS CL E G H34235389OMIM:309900Mucopolysaccharidosis, type II.86
HP:0001744HP:0001744Splenomegaly0IDUA CL E G H34255391ORPHA:93473Hurler syndromeHP:0040281 - Very frequent115
HP:0001744HP:0001744Splenomegaly0IDUA CL E G H34255391OMIM:607014Hurler syndrome.115
HP:0001744HP:0001744Splenomegaly0IDUA CL E G H34255391ORPHA:93476Hurler-Scheie syndromeHP:0040281 - Very frequent115
HP:0001744HP:0001744Splenomegaly0IDUA CL E G H34255391OMIM:607015Hurler-Scheie syndrome.115
HP:0001744HP:0001744Splenomegaly0IDUA CL E G H34255391ORPHA:93474Scheie syndromeHP:0040282 - Frequent115
HP:0001744HP:0001744Splenomegaly0IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndrome28
HP:0001744HP:0001744Splenomegaly0IFIH1 CL E G H6413518873OMIM:615846Aicardi-Goutieres syndrome 7HP:0040283 - Occasional28
HP:0001744HP:0001744Splenomegaly0IFNG CL E G H34585438OMIM:618963IMMUNODEFICIENCY 69; IMD6923
HP:0001744HP:0001744Splenomegaly0IFNGR1 CL E G H34595439ORPHA:117Behçet diseaseHP:0040283 - Occasional60
HP:0001744HP:0001744Splenomegaly0IFNGR1 CL E G H34595439OMIM:209950Immunodeficiency 27A, mycobacteriosis, AR60
HP:0001744HP:0001744Splenomegaly0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0001744HP:0001744Splenomegaly0IFT172 CL E G H2616030391OMIM:615630Short-Rib thoracic dysplasia 10 with or without polydactyly.48
HP:0001744HP:0001744Splenomegaly0IGH CL E G H34925477ORPHA:545Follicular lymphomaHP:0040282 - Frequent7
HP:0001744HP:0001744Splenomegaly0IGH CL E G H34925477ORPHA:52416Mantle cell lymphomaHP:0040282 - Frequent7
HP:0001744HP:0001744Splenomegaly0IKBKG CL E G H85175961OMIM:30108152
HP:0001744HP:0001744Splenomegaly0IKZF3 CL E G H2280613178OMIM:619437IMMUNODEFICIENCY 84; IMD84
HP:0001744HP:0001744Splenomegaly0IL10 CL E G H35865962ORPHA:117Behçet diseaseHP:0040283 - Occasional2
HP:0001744HP:0001744Splenomegaly0IL12A CL E G H35925969ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0001744HP:0001744Splenomegaly0IL12A-AS1 CL E G H10192837649094ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0001744HP:0001744Splenomegaly0IL1RN CL E G H35576000OMIM:612852Interleukin 1 receptor antagonist deficiency.40
HP:0001744HP:0001744Splenomegaly0IL23R CL E G H14923319100ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0001744HP:0001744Splenomegaly0IL2RA CL E G H35596008OMIM:606367IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD4165
HP:0001744HP:0001744Splenomegaly0IL2RA CL E G H35596008ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis65
HP:0001744HP:0001744Splenomegaly0IL2RB CL E G H35606009OMIM:618495Immunodeficiency 63 with lymphoproliferation and autoimmunity.
HP:0001744HP:0001744Splenomegaly0IL2RB CL E G H35606009ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0001744HP:0001744Splenomegaly0IL2RG CL E G H35616010ORPHA:39041Omenn syndromeHP:0040282 - Frequent48
HP:0001744HP:0001744Splenomegaly0IL6 CL E G H35696018ORPHA:85414Systemic-onset juvenile idiopathic arthritisHP:0040283 - Occasional2
HP:0001744HP:0001744Splenomegaly0IL6ST CL E G H35726021OMIM:619750IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0001744HP:0001744Splenomegaly0IL7R CL E G H35756024ORPHA:39041Omenn syndromeHP:0040282 - Frequent94
HP:0001744HP:0001744Splenomegaly0IL7R CL E G H35756024OMIM:608971Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive.94
HP:0001744HP:0001744Splenomegaly0IL7R CL E G H35756024ORPHA:169154T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency94
HP:0001744HP:0001744Splenomegaly0INPP5E CL E G H5662321474ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional111
HP:0001744HP:0001744Splenomegaly0INPPL1 CL E G H36366080ORPHA:2746OpsismodysplasiaHP:0040283 - Occasional18
HP:0001744HP:0001744Splenomegaly0IRF2BP2 CL E G H35994821729ORPHA:1572Common variable immunodeficiencyHP:0040282 - Frequent4
HP:0001744HP:0001744Splenomegaly0IRF4 CL E G H36626119ORPHA:3452Whipple diseaseHP:0040282 - Frequent1
HP:0001744HP:0001744Splenomegaly0IRF8 CL E G H33945358OMIM:226990Immunodeficiency 32B.5
HP:0001744HP:0001744Splenomegaly0ITCH CL E G H8373713890OMIM:613385AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD3
HP:0001744HP:0001744Splenomegaly0ITCH CL E G H8373713890ORPHA:228426Syndromic multisystem autoimmune disease due to Itch deficiency3
HP:0001744HP:0001744Splenomegaly0ITK CL E G H37026171OMIM:613011LYMPHOPROLIFERATIVE SYNDROME 1; LPFS151
HP:0001744HP:0001744Splenomegaly0JAK1 CL E G H37166190OMIM:618999AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE12
HP:0001744HP:0001744Splenomegaly0JAK2 CL E G H37176192ORPHA:131Budd-Chiari syndromeHP:0040281 - Very frequent57
HP:0001744HP:0001744Splenomegaly0JAK2 CL E G H37176192OMIM:133100Erythrocytosis, familial, 1.57
HP:0001744HP:0001744Splenomegaly0JAK2 CL E G H37176192ORPHA:3318Essential thrombocythemiaHP:0040282 - Frequent57
HP:0001744HP:0001744Splenomegaly0JAK2 CL E G H37176192ORPHA:71493Familial thrombocytosisHP:0040282 - Frequent57
HP:0001744HP:0001744Splenomegaly0JAK2 CL E G H37176192OMIM:254450Myelofibrosismyelofibrosis with myeloid metaplasia, included57
HP:0001744HP:0001744Splenomegaly0JAK2 CL E G H37176192OMIM:263300Polycythemia vera.57
HP:0001744HP:0001744Splenomegaly0JAK2 CL E G H37176192ORPHA:729Polycythemia veraHP:0040281 - Very frequent57
HP:0001744HP:0001744Splenomegaly0JAK2 CL E G H37176192ORPHA:824Primary myelofibrosisHP:0040282 - Frequent57
HP:0001744HP:0001744Splenomegaly0JAK3 CL E G H37186193ORPHA:35078T-B+ severe combined immunodeficiency due to JAK3 deficiency140
HP:0001744HP:0001744Splenomegaly0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional2
HP:0001744HP:0001744Splenomegaly0KCNH1 CL E G H37566250ORPHA:3473Zimmermann-Laband syndromeHP:0040283 - Occasional13
HP:0001744HP:0001744Splenomegaly0KCNH1 CL E G H37566250OMIM:135500Zimmermann-Laband syndrome 1.13
HP:0001744HP:0001744Splenomegaly0KCNN3 CL E G H37826292ORPHA:3473Zimmermann-Laband syndromeHP:0040283 - Occasional7
HP:0001744HP:0001744Splenomegaly0KCNN4 CL E G H37836293ORPHA:3202Dehydrated hereditary stomatocytosisHP:0040282 - Frequent3
HP:0001744HP:0001744Splenomegaly0KCNN4 CL E G H37836293OMIM:616689Dehydrated hereditary stomatocytosis 2.3
HP:0001744HP:0001744Splenomegaly0KIF3B CL E G H93716320OMIM:618955RETINITIS PIGMENTOSA 89; RP89
HP:0001744HP:0001744Splenomegaly0KIT CL E G H38156342ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040283 - Occasional327
HP:0001744HP:0001744Splenomegaly0KLF1 CL E G H106616345OMIM:613673Anemia, dyserythropoietic congenital, type IV.42
HP:0001744HP:0001744Splenomegaly0KLF1 CL E G H106616345ORPHA:46532Hereditary persistence of fetal hemoglobin-beta-thalassemia syndromeHP:0040281 - Very frequent42
HP:0001744HP:0001744Splenomegaly0KLF1 CL E G H106616345ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome42
HP:0001744HP:0001744Splenomegaly0KLRC4 CL E G H83026377ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0001744HP:0001744Splenomegaly0KPTN CL E G H111336404ORPHA:397612Macrocephaly-developmental delay syndrome13
HP:0001744HP:0001744Splenomegaly0KPTN CL E G H111336404OMIM:615637Mental retardation, autosomal recessive 4113
HP:0001744HP:0001744Splenomegaly0KRAS CL E G H38456407ORPHA:1333Familial pancreatic carcinoma196
HP:0001744HP:0001744Splenomegaly0KRAS CL E G H38456407OMIM:614470RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic.196
HP:0001744HP:0001744Splenomegaly0LACC1 CL E G H14481126789ORPHA:85414Systemic-onset juvenile idiopathic arthritisHP:0040283 - Occasional1
HP:0001744HP:0001744Splenomegaly0LAT CL E G H2704018874OMIM:617514Immunodeficiency 522
HP:0001744HP:0001744Splenomegaly0LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0001744HP:0001744Splenomegaly0LBR CL E G H39306518OMIM:613471Reynolds syndrome.70
HP:0001744HP:0001744Splenomegaly0LCAT CL E G H39316522ORPHA:79292Fish-eye diseaseHP:0040283 - Occasional26
HP:0001744HP:0001744Splenomegaly0LIG4 CL E G H39816601ORPHA:39041Omenn syndromeHP:0040282 - Frequent88
HP:0001744HP:0001744Splenomegaly0LIPA CL E G H39886617ORPHA:75234Cholesteryl ester storage diseaseHP:0040282 - Frequent73
HP:0001744HP:0001744Splenomegaly0LIPA CL E G H39886617OMIM:278000Lysosomal acid lipase deficiency73
HP:0001744HP:0001744Splenomegaly0LIPA CL E G H39886617ORPHA:75233Wolman diseaseHP:0040282 - Frequent73
HP:0001744HP:0001744Splenomegaly0LMNA CL E G H40006636ORPHA:280365Autosomal semi-dominant severe lipodystrophic laminopathyHP:0040283 - Occasional645
HP:0001744HP:0001744Splenomegaly0LMNA CL E G H40006636ORPHA:2348Familial partial lipodystrophy, Dunnigan typeHP:0040283 - Occasional645
HP:0001744HP:0001744Splenomegaly0LPIN2 CL E G H966314450ORPHA:77297Majeed syndromeHP:0040282 - Frequent186
HP:0001744HP:0001744Splenomegaly0LPIN2 CL E G H966314450OMIM:609628MAJEED SYNDROME; MJDS186
HP:0001744HP:0001744Splenomegaly0LPL CL E G H40236677OMIM:238600Type I hyperlipoproteinemia.106
HP:0001744HP:0001744Splenomegaly0LRBA CL E G H9871742OMIM:614700IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID845
HP:0001744HP:0001744Splenomegaly0LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndrome
HP:0001744HP:0001744Splenomegaly0LYST CL E G H11301968ORPHA:167Chédiak-Higashi syndromeHP:0040282 - Frequent239
HP:0001744HP:0001744Splenomegaly0LYST CL E G H11301968OMIM:214500Chediak-Higashi syndrome239
HP:0001744HP:0001744Splenomegaly0LYZ CL E G H40696740OMIM:105200Amyloidosis, familial visceral.32
HP:0001744HP:0001744Splenomegaly0MAGT1 CL E G H8406128880OMIM:300853IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN17
HP:0001744HP:0001744Splenomegaly0MAN2B1 CL E G H41256826OMIM:248500Alpha-mannosidosis.136
HP:0001744HP:0001744Splenomegaly0MAN2B1 CL E G H41256826ORPHA:309288Alpha-mannosidosis, adult form136
HP:0001744HP:0001744Splenomegaly0MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile form136
HP:0001744HP:0001744Splenomegaly0MCM4 CL E G H41736947OMIM:609981Immunodeficiency 54.69
HP:0001744HP:0001744Splenomegaly0MED12 CL E G H996811957OMIM:301068HARDIKAR SYNDROME; HDKR228
HP:0001744HP:0001744Splenomegaly0MEFV CL E G H42106998ORPHA:117Behçet diseaseHP:0040283 - Occasional281
HP:0001744HP:0001744Splenomegaly0MEFV CL E G H42106998ORPHA:342Familial Mediterranean feverHP:0040283 - Occasional281
HP:0001744HP:0001744Splenomegaly0MEFV CL E G H42106998OMIM:249100Familial Mediterranean fever, AR281
HP:0001744HP:0001744Splenomegaly0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0001744HP:0001744Splenomegaly0MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0001744HP:0001744Splenomegaly0MIF CL E G H42827097ORPHA:85414Systemic-onset juvenile idiopathic arthritisHP:0040283 - Occasional1
HP:0001744HP:0001744Splenomegaly0MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1.127
HP:0001744HP:0001744Splenomegaly0MMUT CL E G H45947526ORPHA:79312Vitamin B12-unresponsive methylmalonic acidemia type mut-HP:0040282 - Frequent
HP:0001744HP:0001744Splenomegaly0MOGS CL E G H784124862ORPHA:79330MOGS-CDG37
HP:0001744HP:0001744Splenomegaly0MPIG6B CL E G H8073913937OMIM:617441Thrombocytopenia, anemia, and myelofibrosisHP:0040283 - Occasional1
HP:0001744HP:0001744Splenomegaly0MPL CL E G H43527217ORPHA:3318Essential thrombocythemiaHP:0040282 - Frequent97
HP:0001744HP:0001744Splenomegaly0MPL CL E G H43527217ORPHA:71493Familial thrombocytosisHP:0040282 - Frequent97
HP:0001744HP:0001744Splenomegaly0MPL CL E G H43527217OMIM:254450Myelofibrosismyelofibrosis with myeloid metaplasia, included97
HP:0001744HP:0001744Splenomegaly0MPL CL E G H43527217ORPHA:729Polycythemia veraHP:0040281 - Very frequent97
HP:0001744HP:0001744Splenomegaly0MPL CL E G H43527217ORPHA:824Primary myelofibrosisHP:0040282 - Frequent97
HP:0001744HP:0001744Splenomegaly0MS4A1 CL E G H9317315ORPHA:1572Common variable immunodeficiencyHP:0040282 - Frequent1
HP:0001744HP:0001744Splenomegaly0MST1 CL E G H44857380ORPHA:171Primary sclerosing cholangitisHP:0040282 - Frequent1
HP:0001744HP:0001744Splenomegaly0MVK CL E G H45987530OMIM:260920Hyper-Igd syndrome150
HP:0001744HP:0001744Splenomegaly0MVK CL E G H45987530ORPHA:29Mevalonic aciduriaHP:0040281 - Very frequent150
HP:0001744HP:0001744Splenomegaly0MVK CL E G H45987530OMIM:610377Mevalonic aciduria150
HP:0001744HP:0001744Splenomegaly0MYD88 CL E G H46157562ORPHA:33226Waldenström macroglobulinemiaHP:0040283 - Occasional9
HP:0001744HP:0001744Splenomegaly0MYO5B CL E G H46457603OMIM:619868192
HP:0001744HP:0001744Splenomegaly0NAGLU CL E G H46697632OMIM:252920Mucopolysaccharidosis type IIIB.72
HP:0001744HP:0001744Splenomegaly0NBEAL2 CL E G H2321831928OMIM:139090Gray platelet syndrome.127
HP:0001744HP:0001744Splenomegaly0NBEAL2 CL E G H2321831928ORPHA:721Gray platelet syndromeHP:0040282 - Frequent127
HP:0001744HP:0001744Splenomegaly0NCF1 CL E G H6533617660ORPHA:379Chronic granulomatous diseaseHP:0040283 - Occasional13
HP:0001744HP:0001744Splenomegaly0NCF1 CL E G H6533617660OMIM:233700Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I.13
HP:0001744HP:0001744Splenomegaly0NCF2 CL E G H46887661ORPHA:379Chronic granulomatous diseaseHP:0040283 - Occasional67
HP:0001744HP:0001744Splenomegaly0NCF2 CL E G H46887661OMIM:233710Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II.67
HP:0001744HP:0001744Splenomegaly0NCF4 CL E G H46897662ORPHA:379Chronic granulomatous diseaseHP:0040283 - Occasional37
HP:0001744HP:0001744Splenomegaly0NCKAP1L CL E G H30714862OMIM:618982IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0001744HP:0001744Splenomegaly0NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 127
HP:0001744HP:0001744Splenomegaly0NEU1 CL E G H47587758ORPHA:93400Congenital sialidosis type 243
HP:0001744HP:0001744Splenomegaly0NEU1 CL E G H47587758ORPHA:93399Juvenile sialidosis type 243
HP:0001744HP:0001744Splenomegaly0NEU1 CL E G H47587758OMIM:256550Neuraminidase deficiency.43
HP:0001744HP:0001744Splenomegaly0NEU1 CL E G H47587758ORPHA:812Sialidosis type 1HP:0040281 - Very frequent43
HP:0001744HP:0001744Splenomegaly0NFKB1 CL E G H47907794ORPHA:1572Common variable immunodeficiencyHP:0040282 - Frequent7
HP:0001744HP:0001744Splenomegaly0NFKB2 CL E G H47917795ORPHA:1572Common variable immunodeficiencyHP:0040282 - Frequent11
HP:0001744HP:0001744Splenomegaly0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040283 - Occasional32
HP:0001744HP:0001744Splenomegaly0NHLRC2 CL E G H37435424731OMIM:618278Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0001744HP:0001744Splenomegaly0NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional27
HP:0001744HP:0001744Splenomegaly0NLRC4 CL E G H5848416412OMIM:616050AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC30
HP:0001744HP:0001744Splenomegaly0NLRP1 CL E G H2286114374OMIM:617388AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK37
HP:0001744HP:0001744Splenomegaly0NLRP12 CL E G H9166222938OMIM:611762Familial cold autoinflammatory syndrome 299
HP:0001744HP:0001744Splenomegaly0NLRP3 CL E G H11454816400ORPHA:1451CINCA syndromeHP:0040282 - Frequent217
HP:0001744HP:0001744Splenomegaly0NLRP3 CL E G H11454816400OMIM:607115CINCA SYNDROME; CINCA217
HP:0001744HP:0001744Splenomegaly0NLRP3 CL E G H11454816400ORPHA:575Muckle-Wells syndromeHP:0040281 - Very frequent217
HP:0001744HP:0001744Splenomegaly0NOD2 CL E G H641275331ORPHA:90340Blau syndromeHP:0040283 - Occasional187
HP:0001744HP:0001744Splenomegaly0NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional17
HP:0001744HP:0001744Splenomegaly0NOTCH1 CL E G H48517881OMIM:616028Adams-Oliver syndrome 5HP:0040283 - Occasional452
HP:0001744HP:0001744Splenomegaly0NOTCH2 CL E G H48537882ORPHA:955Hajdu-Cheney syndromeHP:0040283 - Occasional138
HP:0001744HP:0001744Splenomegaly0NPC1 CL E G H48647897OMIM:257220Niemann-pick disease, type C1258
HP:0001744HP:0001744Splenomegaly0NPC2 CL E G H1057714537OMIM:607625Niemann-pick disease, type C2.33
HP:0001744HP:0001744Splenomegaly0NPHP3 CL E G H270317907OMIM:267010MECKEL SYNDROME, TYPE 7; MKS7157
HP:0001744HP:0001744Splenomegaly0NPHP3 CL E G H270317907OMIM:208540Renal-Hepatic-Pancreatic dysplasia157
HP:0001744HP:0001744Splenomegaly0NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional12
HP:0001744HP:0001744Splenomegaly0NRAS CL E G H48937989OMIM:614470RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic.102
HP:0001744HP:0001744Splenomegaly0OAS1 CL E G H49388086OMIM:618042Pulmonary alveolar proteinosis with hypogammaglobulinemia2
HP:0001744HP:0001744Splenomegaly0OCLN CL E G H1005066588104OMIM:251290Band-Like calcification with simplified gyration and polymicrogyria.23
HP:0001744HP:0001744Splenomegaly0OSTM1 CL E G H2896221652OMIM:259720Osteopetrosis, autosomal recessive 5.73
HP:0001744HP:0001744Splenomegaly0OTC CL E G H50098512ORPHA:664Ornithine transcarbamylase deficiencyHP:0040281 - Very frequent369
HP:0001744HP:0001744Splenomegaly0PALB2 CL E G H7972826144ORPHA:1333Familial pancreatic carcinoma1349
HP:0001744HP:0001744Splenomegaly0PALLD CL E G H2302217068ORPHA:1333Familial pancreatic carcinoma192
HP:0001744HP:0001744Splenomegaly0PARN CL E G H50738609ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional26
HP:0001744HP:0001744Splenomegaly0PDGFRA CL E G H51568803OMIM:607685Hypereosinophilic syndrome, idiopathic.337
HP:0001744HP:0001744Splenomegaly0PEPD CL E G H51848840OMIM:170100Prolidase deficiency66
HP:0001744HP:0001744Splenomegaly0PEPD CL E G H51848840ORPHA:742Prolidase deficiencyHP:0040283 - Occasional66
HP:0001744HP:0001744Splenomegaly0PEX2 CL E G H58289717OMIM:614866Peroxisome biogenesis disorder 5A (Zellweger).82
HP:0001744HP:0001744Splenomegaly0PEX7 CL E G H51918860ORPHA:773Refsum diseaseHP:0040282 - Frequent72
HP:0001744HP:0001744Splenomegaly0PHKA2 CL E G H52568926ORPHA:264580Glycogen storage disease due to liver phosphorylase kinase deficiencyHP:0040284 - Very rare54
HP:0001744HP:0001744Splenomegaly0PHKA2 CL E G H52568926OMIM:306000Glycogen storage disease ixa54
HP:0001744HP:0001744Splenomegaly0PHKB CL E G H52578927ORPHA:79240Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency101
HP:0001744HP:0001744Splenomegaly0PHKB CL E G H52578927OMIM:261750Glycogen storage disease ixb101
HP:0001744HP:0001744Splenomegaly0PHKG2 CL E G H52618931ORPHA:264580Glycogen storage disease due to liver phosphorylase kinase deficiencyHP:0040284 - Very rare48
HP:0001744HP:0001744Splenomegaly0PHKG2 CL E G H52618931OMIM:613027Glycogen storage disease IXc.48
HP:0001744HP:0001744Splenomegaly0PHYH CL E G H52648940ORPHA:773Refsum diseaseHP:0040282 - Frequent45
HP:0001744HP:0001744Splenomegaly0PIEZO1 CL E G H978028993ORPHA:3202Dehydrated hereditary stomatocytosisHP:0040282 - Frequent36
HP:0001744HP:0001744Splenomegaly0PIEZO1 CL E G H978028993OMIM:194380Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edemaHP:0040283 - Occasional36
HP:0001744HP:0001744Splenomegaly0PIEZO1 CL E G H978028993OMIM:616843Lymphedema, hereditary, III36
HP:0001744HP:0001744Splenomegaly0PIGA CL E G H52778957OMIM:301072NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH46
HP:0001744HP:0001744Splenomegaly0PIGM CL E G H9318318858OMIM:610293Glycosylphosphatidylinositol deficiency.6
HP:0001744HP:0001744Splenomegaly0PIK3C2A CL E G H52868971OMIM:618440Oculoskeletodental syndrome.
HP:0001744HP:0001744Splenomegaly0PIK3CA CL E G H52908975OMIM:612918Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi.162
HP:0001744HP:0001744Splenomegaly0PIK3CD CL E G H52938977OMIM:615513IMMUNODEFICIENCY 14; IMD149
HP:0001744HP:0001744Splenomegaly0PIK3CG CL E G H52948978OMIM:619802IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD972
HP:0001744HP:0001744Splenomegaly0PIK3R1 CL E G H52958979OMIM:616005Immunodeficiency 36.43
HP:0001744HP:0001744Splenomegaly0PKHD1 CL E G H53149016ORPHA:731Autosomal recessive polycystic kidney diseaseHP:0040282 - Frequent563
HP:0001744HP:0001744Splenomegaly0PKHD1 CL E G H53149016ORPHA:53035Caroli diseaseHP:0040283 - Occasional563
HP:0001744HP:0001744Splenomegaly0PKHD1 CL E G H53149016OMIM:263200Polycystic kidney disease 4 with or without polycystic liver disease.563
HP:0001744HP:0001744Splenomegaly0PKLR CL E G H53139020ORPHA:766Hemolytic anemia due to red cell pyruvate kinase deficiencyHP:0040281 - Very frequent51
HP:0001744HP:0001744Splenomegaly0PKLR CL E G H53139020OMIM:266200Pyruvate kinase deficiency of red cells.51
HP:0001744HP:0001744Splenomegaly0PLEKHM1 CL E G H984229017ORPHA:210110Intermediate osteopetrosis2
HP:0001744HP:0001744Splenomegaly0PLEKHM1 CL E G H984229017OMIM:618107OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA32
HP:0001744HP:0001744Splenomegaly0PNP CL E G H48607892OMIM:613179Immunodeficiency due to purine nucleoside phosphorylase deficiency.52
HP:0001744HP:0001744Splenomegaly0PNPLA2 CL E G H5710430802ORPHA:565612Triglyceride deposit cardiomyovasculopathyHP:0040284 - Very rare65
HP:0001744HP:0001744Splenomegaly0PPARG CL E G H54689236ORPHA:79083PPARG-related familial partial lipodystrophyHP:0040283 - Occasional42
HP:0001744HP:0001744Splenomegaly0PRF1 CL E G H55519360ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040282 - Frequent58
HP:0001744HP:0001744Splenomegaly0PRF1 CL E G H55519360OMIM:603553Hemophagocytic lymphohistiocytosis, familial, 258
HP:0001744HP:0001744Splenomegaly0PRKCD CL E G H55809399ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040281 - Very frequent10
HP:0001744HP:0001744Splenomegaly0PRKCD CL E G H55809399OMIM:615559AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS310
HP:0001744HP:0001744Splenomegaly0PRKCD CL E G H55809399ORPHA:1572Common variable immunodeficiencyHP:0040282 - Frequent10
HP:0001744HP:0001744Splenomegaly0PSAP CL E G H56609498OMIM:611721Combined saposin deficiency.81
HP:0001744HP:0001744Splenomegaly0PSAP CL E G H56609498ORPHA:139406Encephalopathy due to prosaposin deficiencyHP:0040281 - Very frequent81
HP:0001744HP:0001744Splenomegaly0PSAP CL E G H56609498OMIM:610539Gaucher disease, atypical81
HP:0001744HP:0001744Splenomegaly0PSMB10 CL E G H56999538OMIM:619175PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5; PRAAS5
HP:0001744HP:0001744Splenomegaly0PSMB4 CL E G H56929541OMIM:617591Proteasome-Associated autoinflammatory syndrome 3.
HP:0001744HP:0001744Splenomegaly0PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0001744HP:0001744Splenomegaly0PSMB9 CL E G H56989546OMIM:617591Proteasome-Associated autoinflammatory syndrome 3.
HP:0001744HP:0001744Splenomegaly0PSMG2 CL E G H5698424929OMIM:619183PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0001744HP:0001744Splenomegaly0PSTPIP1 CL E G H90519580OMIM:604416Pyogenic sterile arthritis, pyoderma gangrenosum, and acne96
HP:0001744HP:0001744Splenomegaly0PTEN CL E G H57289588OMIM:605309Macrocephaly/autism syndromeHP:0040284 - Very rare948
HP:0001744HP:0001744Splenomegaly0PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040283 - Occasional948
HP:0001744HP:0001744Splenomegaly0PTEN CL E G H57289588ORPHA:2969Proteus-like syndromeHP:0040283 - Occasional948
HP:0001744HP:0001744Splenomegaly0PTPN2 CL E G H57719650ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0001744HP:0001744Splenomegaly0PTPN22 CL E G H261919652ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis3
HP:0001744HP:0001744Splenomegaly0PTPRC CL E G H57889666OMIM:61992425
HP:0001744HP:0001744Splenomegaly0RAB27A CL E G H58739766ORPHA:79477Griscelli syndrome type 2HP:0040281 - Very frequent67
HP:0001744HP:0001744Splenomegaly0RAB27A CL E G H58739766OMIM:607624Griscelli syndrome, type 267
HP:0001744HP:0001744Splenomegaly0RABL3 CL E G H28528218072ORPHA:1333Familial pancreatic carcinoma
HP:0001744HP:0001744Splenomegaly0RAC2 CL E G H58809802OMIM:618986IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B9
HP:0001744HP:0001744Splenomegaly0RAG1 CL E G H58969831ORPHA:231154Combined immunodeficiency due to partial RAG1 deficiencyHP:0040281 - Very frequent127
HP:0001744HP:0001744Splenomegaly0RAG1 CL E G H58969831OMIM:603554Omenn syndrome.127
HP:0001744HP:0001744Splenomegaly0RAG1 CL E G H58969831ORPHA:39041Omenn syndromeHP:0040282 - Frequent127
HP:0001744HP:0001744Splenomegaly0RAG1 CL E G H58969831ORPHA:331206Severe combined immunodeficiency due to complete RAG1/2 deficiency127
HP:0001744HP:0001744Splenomegaly0RAG2 CL E G H58979832ORPHA:39041Omenn syndromeHP:0040282 - Frequent50
HP:0001744HP:0001744Splenomegaly0RAG2 CL E G H58979832OMIM:603554Omenn syndrome.50
HP:0001744HP:0001744Splenomegaly0RAG2 CL E G H58979832ORPHA:331206Severe combined immunodeficiency due to complete RAG1/2 deficiency50
HP:0001744HP:0001744Splenomegaly0RASGRP1 CL E G H101259878ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040281 - Very frequent
HP:0001744HP:0001744Splenomegaly0RASGRP1 CL E G H101259878OMIM:618534IMMUNODEFICIENCY 64; IMD64
HP:0001744HP:0001744Splenomegaly0RBCK1 CL E G H1061615864OMIM:615895Polyglucosan body myopathy 1 with or without immunodeficiency10
HP:0001744HP:0001744Splenomegaly0RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0001744HP:0001744Splenomegaly0RHAG CL E G H600510006ORPHA:3203Overhydrated hereditary stomatocytosisHP:0040283 - Occasional13
HP:0001744HP:0001744Splenomegaly0RHAG CL E G H600510006OMIM:185000Overhydrated hereditary stomatocytosis.13
HP:0001744HP:0001744Splenomegaly0RHAG CL E G H600510006ORPHA:71275Rh deficiency syndrome13
HP:0001744HP:0001744Splenomegaly0RHCE CL E G H600610008ORPHA:71275Rh deficiency syndrome8
HP:0001744HP:0001744Splenomegaly0RHD CL E G H600710009OMIM:619462Hemolytic disease of fetus and newborn, RH-induced16
HP:0001744HP:0001744Splenomegaly0RHD CL E G H600710009ORPHA:71275Rh deficiency syndrome16
HP:0001744HP:0001744Splenomegaly0RINT1 CL E G H6056121876OMIM:618641INFANTILE LIVER FAILURE SYNDROME 3; ILFS399
HP:0001744HP:0001744Splenomegaly0RIPK1 CL E G H873710019OMIM:618852AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL
HP:0001744HP:0001744Splenomegaly0RMRP CL E G H602310031ORPHA:39041Omenn syndromeHP:0040282 - Frequent37
HP:0001744HP:0001744Splenomegaly0RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndrome33
HP:0001744HP:0001744Splenomegaly0RNASEH2A CL E G H1053518518OMIM:610333Aicardi-Goutieres syndrome 4.33
HP:0001744HP:0001744Splenomegaly0RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndrome34
HP:0001744HP:0001744Splenomegaly0RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndrome60
HP:0001744HP:0001744Splenomegaly0RNASEH2C CL E G H8415324116OMIM:610329Aicardi-Goutieres syndrome 360
HP:0001744HP:0001744Splenomegaly0RNU4ATAC CL E G H10015168334016OMIM:616651Roifman syndrome15
HP:0001744HP:0001744Splenomegaly0RNU4ATAC CL E G H10015168334016ORPHA:353298Roifman syndrome15
HP:0001744HP:0001744Splenomegaly0RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndrome
HP:0001744HP:0001744Splenomegaly0RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0001744HP:0001744Splenomegaly0RPGRIP1L CL E G H2332229168ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional167
HP:0001744HP:0001744Splenomegaly0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0001744HP:0001744Splenomegaly0RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional77
HP:0001744HP:0001744Splenomegaly0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0001744HP:0001744Splenomegaly0RUNX1 CL E G H86110471ORPHA:98850Aggressive systemic mastocytosis181
HP:0001744HP:0001744Splenomegaly0RUNX1 CL E G H86110471ORPHA:521Chronic myeloid leukemiaHP:0040282 - Frequent181
HP:0001744HP:0001744Splenomegaly0SAMD9L CL E G H2192851349ORPHA:2585Ataxia-pancytopenia syndromeHP:0040282 - Frequent4
HP:0001744HP:0001744Splenomegaly0SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndrome55
HP:0001744HP:0001744Splenomegaly0SC5D CL E G H630910547OMIM:607330LATHOSTEROLOSIS80
HP:0001744HP:0001744Splenomegaly0SCARB2 CL E G H9501665ORPHA:77259Gaucher disease type 1HP:0040281 - Very frequent77
HP:0001744HP:0001744Splenomegaly0SCYL1 CL E G H5741014372ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome5
HP:0001744HP:0001744Splenomegaly0SCYL1 CL E G H5741014372OMIM:616719Spinocerebellar ataxia, autosomal recessive 21.5
HP:0001744HP:0001744Splenomegaly0SEC23B CL E G H1048310702OMIM:224100Anemia, dyserythropoietic congenital, type II.60
HP:0001744HP:0001744Splenomegaly0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0001744HP:0001744Splenomegaly0SEMA4D CL E G H1050710732ORPHA:171Primary sclerosing cholangitisHP:0040282 - Frequent
HP:0001744HP:0001744Splenomegaly0SERPINA1 CL E G H52658941OMIM:613490Alpha-1-Antitrypsin deficiency131
HP:0001744HP:0001744Splenomegaly0SF3B1 CL E G H2345110768ORPHA:75564Acquired idiopathic sideroblastic anemiaHP:0040283 - Occasional19
HP:0001744HP:0001744Splenomegaly0SGSH CL E G H644810818OMIM:252900Mucopolysaccharidosis type IIIA.97
HP:0001744HP:0001744Splenomegaly0SH2B3 CL E G H1001929605OMIM:133100Erythrocytosis, familial, 1.4
HP:0001744HP:0001744Splenomegaly0SH2B3 CL E G H1001929605ORPHA:3318Essential thrombocythemiaHP:0040282 - Frequent4
HP:0001744HP:0001744Splenomegaly0SH2B3 CL E G H1001929605OMIM:254450Myelofibrosismyelofibrosis with myeloid metaplasia, included4
HP:0001744HP:0001744Splenomegaly0SH2B3 CL E G H1001929605OMIM:187950THROMBOCYTHEMIA 1; THCYT14
HP:0001744HP:0001744Splenomegaly0SH2D1A CL E G H406810820OMIM:308240Lymphoproliferative syndrome, X-linked, 137
HP:0001744HP:0001744Splenomegaly0SKIC2 CL E G H649910898ORPHA:84064Syndromic diarrheaHP:0040284 - Very rare
HP:0001744HP:0001744Splenomegaly0SKIC3 CL E G H965223639ORPHA:84064Syndromic diarrheaHP:0040284 - Very rare
HP:0001744HP:0001744Splenomegaly0SKIC3 CL E G H965223639OMIM:222470Trichohepatoenteric syndrome 1
HP:0001744HP:0001744Splenomegaly0SLC17A5 CL E G H2650310933OMIM:269920Infantile sialic acid storage disease.78
HP:0001744HP:0001744Splenomegaly0SLC25A13 CL E G H1016510983ORPHA:247598Neonatal intrahepatic cholestasis due to citrin deficiency82
HP:0001744HP:0001744Splenomegaly0SLC29A3 CL E G H5531523096ORPHA:168569H syndrome68
HP:0001744HP:0001744Splenomegaly0SLC29A3 CL E G H5531523096OMIM:602782Histiocytosis-lymphadenopathy plus syndrome68
HP:0001744HP:0001744Splenomegaly0SLC2A1 CL E G H651311005OMIM:612126Glut1 deficiency syndrome 2255
HP:0001744HP:0001744Splenomegaly0SLC2A1 CL E G H651311005ORPHA:168577Hereditary cryohydrocytosis with reduced stomatin255
HP:0001744HP:0001744Splenomegaly0SLC2A1 CL E G H651311005OMIM:608885Stomatin-Deficient cryohydrocytosis with neurologic defects.255
HP:0001744HP:0001744Splenomegaly0SLC30A10 CL E G H5553225355ORPHA:309854Cirrhosis-dystonia-polycythemia-hypermanganesemia syndromeHP:0040282 - Frequent42
HP:0001744HP:0001744Splenomegaly0SLC37A4 CL E G H25424061OMIM:619525CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W110
HP:0001744HP:0001744Splenomegaly0SLC37A4 CL E G H25424061OMIM:232220Glycogen storage disease ib110
HP:0001744HP:0001744Splenomegaly0SLC39A4 CL E G H5563017129OMIM:201100Acrodermatitis enteropathica, Zinc-Deficiency type.55
HP:0001744HP:0001744Splenomegaly0SLC4A1 CL E G H652111027OMIM:185020CRYOHYDROCYTOSIS.109
HP:0001744HP:0001744Splenomegaly0SLC4A1 CL E G H652111027ORPHA:3202Dehydrated hereditary stomatocytosisHP:0040282 - Frequent109
HP:0001744HP:0001744Splenomegaly0SLC4A1 CL E G H652111027ORPHA:822Hereditary spherocytosisHP:0040282 - Frequent109
HP:0001744HP:0001744Splenomegaly0SLC4A1 CL E G H652111027OMIM:611590Renal tubular acidosis, distal, with hemolytic anemia109
HP:0001744HP:0001744Splenomegaly0SLC4A1 CL E G H652111027OMIM:612653Spherocytosis, type 4.109
HP:0001744HP:0001744Splenomegaly0SLC7A7 CL E G H905611065ORPHA:470Lysinuric protein intolerance104
HP:0001744HP:0001744Splenomegaly0SLC7A7 CL E G H905611065OMIM:222700Lysinuric protein intolerance.104
HP:0001744HP:0001744Splenomegaly0SLCO2A1 CL E G H657810955ORPHA:2796PachydermoperiostosisHP:0040283 - Occasional13
HP:0001744HP:0001744Splenomegaly0SMAD4 CL E G H40896770ORPHA:1333Familial pancreatic carcinoma504
HP:0001744HP:0001744Splenomegaly0SMPD1 CL E G H660911120ORPHA:77293Niemann-Pick disease type BHP:0040282 - Frequent164
HP:0001744HP:0001744Splenomegaly0SMPD1 CL E G H660911120OMIM:257200Niemann-Pick disease, type A.164
HP:0001744HP:0001744Splenomegaly0SMPD1 CL E G H660911120OMIM:607616Niemann-pick disease, type B.164
HP:0001744HP:0001744Splenomegaly0SNX10 CL E G H2988714974ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent2
HP:0001744HP:0001744Splenomegaly0SNX10 CL E G H2988714974OMIM:615085Osteopetrosis, autosomal recessive 8.2
HP:0001744HP:0001744Splenomegaly0SNX14 CL E G H5723114977ORPHA:397709Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome14
HP:0001744HP:0001744Splenomegaly0SNX14 CL E G H5723114977OMIM:616354Spinocerebellar ataxia, autosomal recessive 2014
HP:0001744HP:0001744Splenomegaly0SOCS1 CL E G H865119383OMIM:619375AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD6
HP:0001744HP:0001744Splenomegaly0SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease61
HP:0001744HP:0001744Splenomegaly0SOX10 CL E G H666311190ORPHA:163746Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung diseaseHP:0040283 - Occasional61
HP:0001744HP:0001744Splenomegaly0SP110 CL E G H34315401ORPHA:79124Hepatic veno-occlusive disease-immunodeficiency syndrome49
HP:0001744HP:0001744Splenomegaly0SPTA1 CL E G H670811272ORPHA:288Hereditary elliptocytosisHP:0040283 - Occasional228
HP:0001744HP:0001744Splenomegaly0SPTA1 CL E G H670811272ORPHA:822Hereditary spherocytosisHP:0040282 - Frequent228
HP:0001744HP:0001744Splenomegaly0SPTB CL E G H671011274ORPHA:288Hereditary elliptocytosisHP:0040283 - Occasional156
HP:0001744HP:0001744Splenomegaly0SPTB CL E G H671011274ORPHA:822Hereditary spherocytosisHP:0040282 - Frequent156
HP:0001744HP:0001744Splenomegaly0SPTB CL E G H671011274OMIM:616649SPHEROCYTOSIS, TYPE 2; SPH2156
HP:0001744HP:0001744Splenomegaly0SRSF2 CL E G H642710783ORPHA:98850Aggressive systemic mastocytosis1
HP:0001744HP:0001744Splenomegaly0SRSF2 CL E G H642710783ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040283 - Occasional1
HP:0001744HP:0001744Splenomegaly0STAT1 CL E G H677211362ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome89
HP:0001744HP:0001744Splenomegaly0STAT1 CL E G H677211362OMIM:614162Immunodeficiency 31C89
HP:0001744HP:0001744Splenomegaly0STAT3 CL E G H677411364OMIM:615952AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1110
HP:0001744HP:0001744Splenomegaly0STAT4 CL E G H677511365ORPHA:117Behçet diseaseHP:0040283 - Occasional2
HP:0001744HP:0001744Splenomegaly0STAT4 CL E G H677511365ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis2
HP:0001744HP:0001744Splenomegaly0STEAP3 CL E G H5524024592OMIM:615234Anemia, hypochromic microcytic, with iron overload 2.1
HP:0001744HP:0001744Splenomegaly0STEAP3 CL E G H5524024592ORPHA:300298Severe congenital hypochromic anemia with ringed sideroblasts1
HP:0001744HP:0001744Splenomegaly0STX11 CL E G H867611429ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040282 - Frequent85
HP:0001744HP:0001744Splenomegaly0STX11 CL E G H867611429OMIM:603552HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL485
HP:0001744HP:0001744Splenomegaly0STXBP2 CL E G H681311445ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040282 - Frequent70
HP:0001744HP:0001744Splenomegaly0STXBP2 CL E G H681311445OMIM:613101HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL570
HP:0001744HP:0001744Splenomegaly0SUMF1 CL E G H28536220376OMIM:272200Multiple sulfatase deficiency.80
HP:0001744HP:0001744Splenomegaly0SUMF1 CL E G H28536220376ORPHA:585Multiple sulfatase deficiencyHP:0040281 - Very frequent80
HP:0001744HP:0001744Splenomegaly0SYK CL E G H685011491OMIM:619381IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD821
HP:0001744HP:0001744Splenomegaly0TALDO1 CL E G H688811559ORPHA:101028Transaldolase deficiency34
HP:0001744HP:0001744Splenomegaly0TALDO1 CL E G H688811559OMIM:606003Transaldolase deficiency.34
HP:0001744HP:0001744Splenomegaly0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional32
HP:0001744HP:0001744Splenomegaly0TBX1 CL E G H689911592OMIM:188400Digeorge syndrome32
HP:0001744HP:0001744Splenomegaly0TBXAS1 CL E G H691611609ORPHA:1802Ghosal hematodiaphyseal dysplasiaHP:0040283 - Occasional16
HP:0001744HP:0001744Splenomegaly0TCF3 CL E G H692911633OMIM:619824AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B2
HP:0001744HP:0001744Splenomegaly0TCF4 CL E G H692511634ORPHA:171Primary sclerosing cholangitisHP:0040282 - Frequent241
HP:0001744HP:0001744Splenomegaly0TCIRG1 CL E G H1031211647ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent82
HP:0001744HP:0001744Splenomegaly0TCIRG1 CL E G H1031211647ORPHA:210110Intermediate osteopetrosis82
HP:0001744HP:0001744Splenomegaly0TCIRG1 CL E G H1031211647OMIM:259700Osteopetrosis, autosomal recessive 182
HP:0001744HP:0001744Splenomegaly0TERC CL E G H701211727ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional48
HP:0001744HP:0001744Splenomegaly0TERT CL E G H701511730ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional238
HP:0001744HP:0001744Splenomegaly0TET2 CL E G H5479025941ORPHA:75564Acquired idiopathic sideroblastic anemiaHP:0040283 - Occasional3
HP:0001744HP:0001744Splenomegaly0TET2 CL E G H5479025941ORPHA:98850Aggressive systemic mastocytosis3
HP:0001744HP:0001744Splenomegaly0TET2 CL E G H5479025941ORPHA:3318Essential thrombocythemiaHP:0040282 - Frequent3
HP:0001744HP:0001744Splenomegaly0TET2 CL E G H5479025941OMIM:619126IMMUNODEFICIENCY 75; IMD753
HP:0001744HP:0001744Splenomegaly0TET2 CL E G H5479025941ORPHA:729Polycythemia veraHP:0040281 - Very frequent3
HP:0001744HP:0001744Splenomegaly0TET2 CL E G H5479025941ORPHA:824Primary myelofibrosisHP:0040282 - Frequent3
HP:0001744HP:0001744Splenomegaly0TET2 CL E G H5479025941ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040283 - Occasional3
HP:0001744HP:0001744Splenomegaly0TFE3 CL E G H703011752OMIM:301066INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0001744HP:0001744Splenomegaly0TGFB1 CL E G H704011766ORPHA:1328Camurati-Engelmann diseaseHP:0040283 - Occasional13
HP:0001744HP:0001744Splenomegaly0TGFB1 CL E G H704011766OMIM:219700Cystic fibrosis13
HP:0001744HP:0001744Splenomegaly0THPO CL E G H706611795ORPHA:71493Familial thrombocytosisHP:0040282 - Frequent23
HP:0001744HP:0001744Splenomegaly0THPO CL E G H706611795OMIM:187950THROMBOCYTHEMIA 1; THCYT123
HP:0001744HP:0001744Splenomegaly0TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional60
HP:0001744HP:0001744Splenomegaly0TLR4 CL E G H709911850ORPHA:117Behçet diseaseHP:0040283 - Occasional3
HP:0001744HP:0001744Splenomegaly0TLR8 CL E G H5131115632OMIM:301078IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0001744HP:0001744Splenomegaly0TMEM67 CL E G H9114728396OMIM:216360Coach syndrome 1.166
HP:0001744HP:0001744Splenomegaly0TMEM67 CL E G H9114728396ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional166
HP:0001744HP:0001744Splenomegaly0TMEM67 CL E G H9114728396ORPHA:84081Senior-Boichis syndrome166
HP:0001744HP:0001744Splenomegaly0TNFRSF11A CL E G H879211908OMIM:612301OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB772
HP:0001744HP:0001744Splenomegaly0TNFRSF13B CL E G H2349518153ORPHA:1572Common variable immunodeficiencyHP:0040282 - Frequent32
HP:0001744HP:0001744Splenomegaly0TNFRSF13B CL E G H2349518153OMIM:240500Immunodeficiency, common variable, 2.32
HP:0001744HP:0001744Splenomegaly0TNFRSF13C CL E G H11565017755ORPHA:1572Common variable immunodeficiencyHP:0040282 - Frequent12
HP:0001744HP:0001744Splenomegaly0TNFRSF13C CL E G H11565017755OMIM:240500Immunodeficiency, common variable, 2.12
HP:0001744HP:0001744Splenomegaly0TNFRSF1A CL E G H713211916ORPHA:32960Tumor necrosis factor receptor 1 associated periodic syndromeHP:0040282 - Frequent131
HP:0001744HP:0001744Splenomegaly0TNFRSF1B CL E G H713311917ORPHA:2584Classic mycosis fungoidesHP:0040283 - Occasional
HP:0001744HP:0001744Splenomegaly0TNFRSF1B CL E G H713311917ORPHA:3162Sézary syndromeHP:0040282 - Frequent
HP:0001744HP:0001744Splenomegaly0TNFRSF4 CL E G H729311918OMIM:615593Immunodeficiency 162
HP:0001744HP:0001744Splenomegaly0TNFSF11 CL E G H860011926ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent44
HP:0001744HP:0001744Splenomegaly0TNFSF11 CL E G H860011926OMIM:259710Osteopetrosis, autosomal recessive 244
HP:0001744HP:0001744Splenomegaly0TNFSF12 CL E G H874211927ORPHA:1572Common variable immunodeficiencyHP:0040282 - Frequent1
HP:0001744HP:0001744Splenomegaly0TOM1 CL E G H1004311982ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0001744HP:0001744Splenomegaly0TP53 CL E G H715711998ORPHA:3318Essential thrombocythemiaHP:0040282 - Frequent911
HP:0001744HP:0001744Splenomegaly0TP53 CL E G H715711998ORPHA:1333Familial pancreatic carcinoma911
HP:0001744HP:0001744Splenomegaly0TPI1 CL E G H716712009OMIM:615512Triosephosphate isomerase deficiency.28
HP:0001744HP:0001744Splenomegaly0TPP2 CL E G H717412016ORPHA:444463Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndromeHP:0040282 - Frequent
HP:0001744HP:0001744Splenomegaly0TPP2 CL E G H717412016OMIM:619220IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0001744HP:0001744Splenomegaly0TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndrome56
HP:0001744HP:0001744Splenomegaly0TREX1 CL E G H1127712269OMIM:225750Aicardi-Goutieres syndrome 1HP:0040283 - Occasional56
HP:0001744HP:0001744Splenomegaly0TRNT1 CL E G H5109517341OMIM:616084SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD28
HP:0001744HP:0001744Splenomegaly0TRPV6 CL E G H5550314006ORPHA:417Neonatal severe primary hyperparathyroidismHP:0040281 - Very frequent4
HP:0001744HP:0001744Splenomegaly0TTC26 CL E G H7998921882OMIM:619534BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001744HP:0001744Splenomegaly0TULP3 CL E G H728912425OMIM:619902
HP:0001744HP:0001744Splenomegaly0TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional1
HP:0001744HP:0001744Splenomegaly0UBAC2 CL E G H33786720486ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0001744HP:0001744Splenomegaly0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0001744HP:0001744Splenomegaly0UMPS CL E G H737212563ORPHA:30Hereditary orotic aciduriaHP:0040282 - Frequent135
HP:0001744HP:0001744Splenomegaly0UNC13D CL E G H20129423147ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040282 - Frequent116
HP:0001744HP:0001744Splenomegaly0UNC13D CL E G H20129423147OMIM:608898HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3116
HP:0001744HP:0001744Splenomegaly0UROD CL E G H738912591ORPHA:95159Hepatoerythropoietic porphyriaHP:0040283 - Occasional31
HP:0001744HP:0001744Splenomegaly0UROS CL E G H739012592ORPHA:79277Congenital erythropoietic porphyriaHP:0040283 - Occasional41
HP:0001744HP:0001744Splenomegaly0UROS CL E G H739012592OMIM:263700Porphyria, congenital erythropoietic.41
HP:0001744HP:0001744Splenomegaly0USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional8
HP:0001744HP:0001744Splenomegaly0USB1 CL E G H7965025792OMIM:604173Poikiloderma with neutropenia8
HP:0001744HP:0001744Splenomegaly0USP53 CL E G H5453229255OMIM:619658CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS; PFIC7
HP:0001744HP:0001744Splenomegaly0VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040283 - Occasional130
HP:0001744HP:0001744Splenomegaly0VPS33A CL E G H6508218179ORPHA:505248Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders1
HP:0001744HP:0001744Splenomegaly0VPS33A CL E G H6508218179OMIM:617303Mucopolysaccharidosis-Plus syndrome1
HP:0001744HP:0001744Splenomegaly0VPS33B CL E G H2627612712OMIM:62001063
HP:0001744HP:0001744Splenomegaly0VPS45 CL E G H1131114579OMIM:615285Neutropenia, severe congenital, 5, autosomal recessive.7
HP:0001744HP:0001744Splenomegaly0WDR1 CL E G H994812754OMIM:150550Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0001744HP:0001744Splenomegaly0WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2.136
HP:0001744HP:0001744Splenomegaly0WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional40
HP:0001744HP:0001744Splenomegaly0XIAP CL E G H331592OMIM:308240Lymphoproliferative syndrome, X-linked, 181
HP:0001744HP:0001744Splenomegaly0XIAP CL E G H331592OMIM:300635Lymphoproliferative syndrome, X-linked, 281
HP:0001744HP:0001744Splenomegaly0XK CL E G H750412811OMIM:300842Mcleod syndrome8
HP:0001744HP:0001744Splenomegaly0YARS1 CL E G H856512840OMIM:619418NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0001744HP:0001744Splenomegaly0ZAP70 CL E G H753512858ORPHA:911Combined immunodeficiency due to ZAP70 deficiency46
HP:0001744HP:0001744Splenomegaly0ZAP70 CL E G H753512858OMIM:269840SELECTIVE T-CELL DEFECT.46
HP:0001744HP:0001744Splenomegaly0ZFYVE19 CL E G H8493620758OMIM:619849
HP:0001744HP:0001744Splenomegaly0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0001744HP:0001744Splenomegaly0ZNFX1 CL E G H5716929271OMIM:619644IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0001744HP:0001433Hepatosplenomegaly1ABCA1 CL E G H1929ORPHA:31150Tangier diseaseHP:0040282 - Frequent191
HP:0001744HP:0001433Hepatosplenomegaly1ADA2 CL E G H518161839OMIM:615688Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome22
HP:0001744HP:0001433Hepatosplenomegaly1ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent116
HP:0001744HP:0001433Hepatosplenomegaly1ALG9 CL E G H7979615672OMIM:608776Congenital disorder of glycosylation, type Il93
HP:0001744HP:0001433Hepatosplenomegaly1ALMS1 CL E G H7840428ORPHA:64Alström syndromeHP:0040283 - Occasional404
HP:0001744HP:0001433Hepatosplenomegaly1ANKRD55 CL E G H7972225681ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040284 - Very rare
HP:0001744HP:0001433Hepatosplenomegaly1AP3B1 CL E G H8546566OMIM:608233Hermansky-Pudlak syndrome 283
HP:0001744HP:0001433Hepatosplenomegaly1ASAH1 CL E G H427735ORPHA:333Farber diseaseHP:0040283 - Occasional78
HP:0001744HP:0001433Hepatosplenomegaly1ASXL1 CL E G H17102318318ORPHA:98850Aggressive systemic mastocytosisHP:0040282 - Frequent145
HP:0001744HP:0001433Hepatosplenomegaly1BRCA1 CL E G H6721100ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional5769
HP:0001744HP:0001433Hepatosplenomegaly1BRCA2 CL E G H6751101ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional7642
HP:0001744HP:0001433Hepatosplenomegaly1CA2 CL E G H7601373OMIM:259730Osteopetrosis, autosomal recessive 3.29
HP:0001744HP:0001433Hepatosplenomegaly1CALR CL E G H8111455ORPHA:824Primary myelofibrosisHP:0040282 - Frequent1
HP:0001744HP:0001433Hepatosplenomegaly1CAV1 CL E G H8571527OMIM:612526Lipodystrophy, congenital generalized, type 311
HP:0001744HP:0001433Hepatosplenomegaly1CBL CL E G H8671541ORPHA:98850Aggressive systemic mastocytosisHP:0040282 - Frequent317
HP:0001744HP:0001433Hepatosplenomegaly1CCDC115 CL E G H8431728178OMIM:616828Congenital disorder of glycosylation, type IIO3
HP:0001744HP:0001433Hepatosplenomegaly1CD247 CL E G H9191677ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040284 - Very rare8
HP:0001744HP:0001433Hepatosplenomegaly1CD247 CL E G H9191677ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zetaHP:0040283 - Occasional8
HP:0001744HP:0001433Hepatosplenomegaly1CD27 CL E G H93911922OMIM:615122Lymphoproliferative syndrome 24
HP:0001744HP:0001433Hepatosplenomegaly1CD3D CL E G H9151673ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zetaHP:0040283 - Occasional18
HP:0001744HP:0001433Hepatosplenomegaly1CD3E CL E G H9161674ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zetaHP:0040283 - Occasional24
HP:0001744HP:0001433Hepatosplenomegaly1CD70 CL E G H97011937OMIM:618261LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0001744HP:0001433Hepatosplenomegaly1CDKN2A CL E G H10291787ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional289
HP:0001744HP:0001433Hepatosplenomegaly1CFTR CL E G H10801884OMIM:219700Cystic fibrosis1371
HP:0001744HP:0001433Hepatosplenomegaly1CLCN7 CL E G H11862025ORPHA:210110Intermediate osteopetrosisHP:0040284 - Very rare102
HP:0001744HP:0001433Hepatosplenomegaly1COG1 CL E G H93826545ORPHA:263508COG1-CDGHP:0040283 - Occasional52
HP:0001744HP:0001433Hepatosplenomegaly1COG4 CL E G H2583918620ORPHA:263501COG4-CDGHP:0040282 - Frequent67
HP:0001744HP:0001433Hepatosplenomegaly1COG5 CL E G H1046614857ORPHA:263487COG5-CDGHP:0040283 - Occasional79
HP:0001744HP:0001433Hepatosplenomegaly1COG7 CL E G H9194918622ORPHA:79333COG7-CDG64
HP:0001744HP:0001433Hepatosplenomegaly1CSF3R CL E G H14412439OMIM:162830Neutrophilia, hereditary.34
HP:0001744HP:0001433Hepatosplenomegaly1CTSA CL E G H54769251OMIM:256540GalactosialidosisHP:0040283 - Occasional51
HP:0001744HP:0001433Hepatosplenomegaly1CTSK CL E G H15132536ORPHA:763Pycnodysostosis39
HP:0001744HP:0001433Hepatosplenomegaly1CYBC1 CL E G H7941528672OMIM:618935GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0001744HP:0001433Hepatosplenomegaly1CYP7B1 CL E G H94202652ORPHA:79302Congenital bile acid synthesis defect type 357
HP:0001744HP:0001433Hepatosplenomegaly1DCDC2 CL E G H5147318141ORPHA:84081Senior-Boichis syndrome8
HP:0001744HP:0001433Hepatosplenomegaly1DDRGK1 CL E G H6599216110ORPHA:93352Spondyloepimetaphyseal dysplasia, Shohat typeHP:0040283 - Occasional
HP:0001744HP:0001433Hepatosplenomegaly1DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0001744HP:0001433Hepatosplenomegaly1DNASE2 CL E G H17772960OMIM:619858
HP:0001744HP:0001433Hepatosplenomegaly1DPM1 CL E G H88133005ORPHA:79322DPM1-CDGHP:0040283 - Occasional27
HP:0001744HP:0001433Hepatosplenomegaly1DZIP1L CL E G H19922126551ORPHA:731Autosomal recessive polycystic kidney diseaseHP:0040283 - Occasional4
HP:0001744HP:0001433Hepatosplenomegaly1DZIP1L CL E G H19922126551OMIM:617610Polycystic kidney disease 54
HP:0001744HP:0001433Hepatosplenomegaly1FARSA CL E G H21933592OMIM:619013RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0001744HP:0001433Hepatosplenomegaly1FCGR2A CL E G H22123616OMIM:219700Cystic fibrosis6
HP:0001744HP:0001433Hepatosplenomegaly1FERMT3 CL E G H8370623151OMIM:612840Leukocyte adhesion deficiency, type III23
HP:0001744HP:0001433Hepatosplenomegaly1FGFR2 CL E G H22633689OMIM:614592Bent bone dysplasia syndromeHP:0040283 - Occasional175
HP:0001744HP:0001433Hepatosplenomegaly1FGFR2 CL E G H22633689ORPHA:313855FGFR2-related bent bone dysplasiaHP:0040283 - Occasional175
HP:0001744HP:0001433Hepatosplenomegaly1G6PC3 CL E G H9257924861OMIM:612541Neutropenia, severe congenital, 4, autosomal recessive37
HP:0001744HP:0001433Hepatosplenomegaly1GALK1 CL E G H25844118ORPHA:79237Galactokinase deficiencyHP:0040283 - Occasional23
HP:0001744HP:0001433Hepatosplenomegaly1GBA1 CL E G H26294177OMIM:608013Gaucher disease, perinatal lethal
HP:0001744HP:0001433Hepatosplenomegaly1GBA1 CL E G H26294177ORPHA:2072Gaucher disease-ophthalmoplegia-cardiovascular calcification syndromeHP:0040282 - Frequent
HP:0001744HP:0001433Hepatosplenomegaly1GBE1 CL E G H26324180OMIM:232500Glycogen storage disease IV.86
HP:0001744HP:0001433Hepatosplenomegaly1GCLC CL E G H27294311ORPHA:33574Glutamate-cysteine ligase deficiencyHP:0040283 - Occasional2
HP:0001744HP:0001433Hepatosplenomegaly1GLB1 CL E G H27204298ORPHA:79255GM1 gangliosidosis type 1HP:0040281 - Very frequent120
HP:0001744HP:0001433Hepatosplenomegaly1GLRX5 CL E G H5121820134OMIM:616860Anemia, sideroblastic, 3, pyridoxine-refractory17
HP:0001744HP:0001433Hepatosplenomegaly1GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001744HP:0001433Hepatosplenomegaly1GNE CL E G H1002023657ORPHA:3166SialuriaHP:0040281 - Very frequent173
HP:0001744HP:0001433Hepatosplenomegaly1GNPTAB CL E G H7915829670ORPHA:576Mucolipidosis type IIHP:0040283 - Occasional240
HP:0001744HP:0001433Hepatosplenomegaly1GPR35 CL E G H28594492ORPHA:171Primary sclerosing cholangitisHP:0040282 - Frequent2
HP:0001744HP:0001433Hepatosplenomegaly1HAVCR2 CL E G H8486818437ORPHA:86884Subcutaneous panniculitis-like T-cell lymphomaHP:0040282 - Frequent
HP:0001744HP:0001433Hepatosplenomegaly1HBB CL E G H30434827ORPHA:231222Beta-thalassemia intermediaHP:0040283 - Occasional580
HP:0001744HP:0001433Hepatosplenomegaly1HBB CL E G H30434827ORPHA:231214Beta-thalassemia majorHP:0040283 - Occasional580
HP:0001744HP:0001433Hepatosplenomegaly1HBB CL E G H30434827ORPHA:231226Dominant beta-thalassemiaHP:0040283 - Occasional580
HP:0001744HP:0001433Hepatosplenomegaly1HEXB CL E G H30744879OMIM:268800Sandhoff disease.80
HP:0001744HP:0001433Hepatosplenomegaly1HEXB CL E G H30744879ORPHA:309155Sandhoff disease, infantile form80
HP:0001744HP:0001433Hepatosplenomegaly1IARS1 CL E G H33765330ORPHA:541423Growth delay-intellectual disability-hepatopathy syndromeHP:0040283 - Occasional
HP:0001744HP:0001433Hepatosplenomegaly1IDS CL E G H34235389ORPHA:217093Mucopolysaccharidosis type 2, attenuated formHP:0040283 - Occasional86
HP:0001744HP:0001433Hepatosplenomegaly1IDS CL E G H34235389ORPHA:217085Mucopolysaccharidosis type 2, severe formHP:0040283 - Occasional86
HP:0001744HP:0001433Hepatosplenomegaly1IDS CL E G H34235389OMIM:309900Mucopolysaccharidosis, type II86
HP:0001744HP:0001433Hepatosplenomegaly1IDUA CL E G H34255391OMIM:607014Hurler syndrome.115
HP:0001744HP:0001433Hepatosplenomegaly1IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent28
HP:0001744HP:0001433Hepatosplenomegaly1IFNG CL E G H34585438OMIM:618963IMMUNODEFICIENCY 69; IMD6923
HP:0001744HP:0001433Hepatosplenomegaly1IFNGR1 CL E G H34595439OMIM:209950Immunodeficiency 27A, mycobacteriosis, AR60
HP:0001744HP:0001433Hepatosplenomegaly1IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0001744HP:0001433Hepatosplenomegaly1IKBKG CL E G H85175961OMIM:30108152
HP:0001744HP:0001433Hepatosplenomegaly1IL2RA CL E G H35596008OMIM:606367IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD4165
HP:0001744HP:0001433Hepatosplenomegaly1IL2RA CL E G H35596008ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040284 - Very rare65
HP:0001744HP:0001433Hepatosplenomegaly1IL2RB CL E G H35606009ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040284 - Very rare
HP:0001744HP:0001433Hepatosplenomegaly1IL6ST CL E G H35726021OMIM:619750IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0001744HP:0001433Hepatosplenomegaly1IL7R CL E G H35756024ORPHA:169154T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiencyHP:0040283 - Occasional94
HP:0001744HP:0001433Hepatosplenomegaly1ITCH CL E G H8373713890ORPHA:228426Syndromic multisystem autoimmune disease due to Itch deficiencyHP:0040281 - Very frequent3
HP:0001744HP:0001433Hepatosplenomegaly1JAK1 CL E G H37166190OMIM:618999AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE12
HP:0001744HP:0001433Hepatosplenomegaly1JAK2 CL E G H37176192ORPHA:824Primary myelofibrosisHP:0040282 - Frequent57
HP:0001744HP:0001433Hepatosplenomegaly1JAK3 CL E G H37186193ORPHA:35078T-B+ severe combined immunodeficiency due to JAK3 deficiencyHP:0040284 - Very rare140
HP:0001744HP:0001433Hepatosplenomegaly1KIF3B CL E G H93716320OMIM:618955RETINITIS PIGMENTOSA 89; RP89
HP:0001744HP:0001433Hepatosplenomegaly1KLF1 CL E G H106616345OMIM:613673Anemia, dyserythropoietic congenital, type IV42
HP:0001744HP:0001433Hepatosplenomegaly1KPTN CL E G H111336404ORPHA:397612Macrocephaly-developmental delay syndromeHP:0040283 - Occasional13
HP:0001744HP:0001433Hepatosplenomegaly1KRAS CL E G H38456407ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional196
HP:0001744HP:0001433Hepatosplenomegaly1LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0001744HP:0001433Hepatosplenomegaly1LIPA CL E G H39886617OMIM:278000Lysosomal acid lipase deficiency73
HP:0001744HP:0001433Hepatosplenomegaly1LPIN2 CL E G H966314450OMIM:609628MAJEED SYNDROME; MJDS186
HP:0001744HP:0001433Hepatosplenomegaly1LPL CL E G H40236677OMIM:238600Type I hyperlipoproteinemia.106
HP:0001744HP:0001433Hepatosplenomegaly1LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent
HP:0001744HP:0001433Hepatosplenomegaly1LYST CL E G H11301968ORPHA:167Chédiak-Higashi syndromeHP:0040282 - Frequent239
HP:0001744HP:0001433Hepatosplenomegaly1MAN2B1 CL E G H41256826ORPHA:309288Alpha-mannosidosis, adult formHP:0040283 - Occasional136
HP:0001744HP:0001433Hepatosplenomegaly1MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile formHP:0040282 - Frequent136
HP:0001744HP:0001433Hepatosplenomegaly1MED12 CL E G H996811957OMIM:301068HARDIKAR SYNDROME; HDKR228
HP:0001744HP:0001433Hepatosplenomegaly1MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0001744HP:0001433Hepatosplenomegaly1MOGS CL E G H784124862ORPHA:79330MOGS-CDGHP:0040283 - Occasional37
HP:0001744HP:0001433Hepatosplenomegaly1MPL CL E G H43527217ORPHA:824Primary myelofibrosisHP:0040282 - Frequent97
HP:0001744HP:0001433Hepatosplenomegaly1MST1 CL E G H44857380ORPHA:171Primary sclerosing cholangitisHP:0040282 - Frequent1
HP:0001744HP:0001433Hepatosplenomegaly1MVK CL E G H45987530OMIM:260920Hyper-Igd syndrome150
HP:0001744HP:0001433Hepatosplenomegaly1MVK CL E G H45987530OMIM:610377Mevalonic aciduria150
HP:0001744HP:0006268Fluctuating splenomegaly1MVK CL E G H45987530OMIM:610377Mevalonic aciduria.150
HP:0001744HP:0001433Hepatosplenomegaly1NCKAP1L CL E G H30714862OMIM:618982IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0001744HP:0001433Hepatosplenomegaly1NEU1 CL E G H47587758ORPHA:93400Congenital sialidosis type 2HP:0040282 - Frequent43
HP:0001744HP:0001433Hepatosplenomegaly1NEU1 CL E G H47587758ORPHA:93399Juvenile sialidosis type 2HP:0040283 - Occasional43
HP:0001744HP:0001433Hepatosplenomegaly1NHLRC2 CL E G H37435424731OMIM:618278Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0001744HP:0001433Hepatosplenomegaly1NLRP3 CL E G H11454816400OMIM:607115CINCA SYNDROME; CINCA217
HP:0001744HP:0001433Hepatosplenomegaly1NPHP3 CL E G H270317907OMIM:267010MECKEL SYNDROME, TYPE 7; MKS7157
HP:0001744HP:0001433Hepatosplenomegaly1OSTM1 CL E G H2896221652OMIM:259720Osteopetrosis, autosomal recessive 573
HP:0001744HP:0001433Hepatosplenomegaly1PALB2 CL E G H7972826144ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional1349
HP:0001744HP:0001433Hepatosplenomegaly1PALLD CL E G H2302217068ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional192
HP:0001744HP:0001433Hepatosplenomegaly1PEX2 CL E G H58289717OMIM:614866Peroxisome biogenesis disorder 5A (Zellweger).82
HP:0001744HP:0001433Hepatosplenomegaly1PKHD1 CL E G H53149016ORPHA:731Autosomal recessive polycystic kidney diseaseHP:0040283 - Occasional563
HP:0001744HP:0001433Hepatosplenomegaly1PLEKHM1 CL E G H984229017ORPHA:210110Intermediate osteopetrosisHP:0040284 - Very rare2
HP:0001744HP:0001433Hepatosplenomegaly1PRF1 CL E G H55519360OMIM:603553Hemophagocytic lymphohistiocytosis, familial, 258
HP:0001744HP:0001433Hepatosplenomegaly1PRKCD CL E G H55809399OMIM:615559AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS310
HP:0001744HP:0001433Hepatosplenomegaly1PSTPIP1 CL E G H90519580OMIM:604416Pyogenic sterile arthritis, pyoderma gangrenosum, and acne96
HP:0001744HP:0001433Hepatosplenomegaly1PTPN2 CL E G H57719650ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040284 - Very rare
HP:0001744HP:0001433Hepatosplenomegaly1PTPN22 CL E G H261919652ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040284 - Very rare3
HP:0001744HP:0001433Hepatosplenomegaly1PTPRC CL E G H57889666OMIM:61992425
HP:0001744HP:0001433Hepatosplenomegaly1RAB27A CL E G H58739766OMIM:607624Griscelli syndrome, type 267
HP:0001744HP:0001433Hepatosplenomegaly1RABL3 CL E G H28528218072ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional
HP:0001744HP:0001433Hepatosplenomegaly1RAC2 CL E G H58809802OMIM:618986IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B9
HP:0001744HP:0001433Hepatosplenomegaly1RAG1 CL E G H58969831ORPHA:331206Severe combined immunodeficiency due to complete RAG1/2 deficiencyHP:0040283 - Occasional127
HP:0001744HP:0001433Hepatosplenomegaly1RAG2 CL E G H58979832ORPHA:331206Severe combined immunodeficiency due to complete RAG1/2 deficiencyHP:0040283 - Occasional50
HP:0001744HP:0001433Hepatosplenomegaly1RASGRP1 CL E G H101259878OMIM:618534IMMUNODEFICIENCY 64; IMD64
HP:0001744HP:0001433Hepatosplenomegaly1RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0001744HP:0001433Hepatosplenomegaly1RHAG CL E G H600510006ORPHA:71275Rh deficiency syndromeHP:0040283 - Occasional13
HP:0001744HP:0001433Hepatosplenomegaly1RHCE CL E G H600610008ORPHA:71275Rh deficiency syndromeHP:0040283 - Occasional8
HP:0001744HP:0001433Hepatosplenomegaly1RHD CL E G H600710009ORPHA:71275Rh deficiency syndromeHP:0040283 - Occasional16
HP:0001744HP:0001433Hepatosplenomegaly1RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent33
HP:0001744HP:0001433Hepatosplenomegaly1RNASEH2A CL E G H1053518518OMIM:610333Aicardi-Goutieres syndrome 433
HP:0001744HP:0001433Hepatosplenomegaly1RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent34
HP:0001744HP:0001433Hepatosplenomegaly1RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent60
HP:0001744HP:0001433Hepatosplenomegaly1RNASEH2C CL E G H8415324116OMIM:610329Aicardi-Goutieres syndrome 360
HP:0001744HP:0001433Hepatosplenomegaly1RNU4ATAC CL E G H10015168334016ORPHA:353298Roifman syndromeHP:0040282 - Frequent15
HP:0001744HP:0001433Hepatosplenomegaly1RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent
HP:0001744HP:0001433Hepatosplenomegaly1RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0001744HP:0001433Hepatosplenomegaly1RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0001744HP:0001433Hepatosplenomegaly1RUNX1 CL E G H86110471ORPHA:98850Aggressive systemic mastocytosisHP:0040282 - Frequent181
HP:0001744HP:0001433Hepatosplenomegaly1SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent55
HP:0001744HP:0001433Hepatosplenomegaly1SC5D CL E G H630910547OMIM:607330LATHOSTEROLOSIS80
HP:0001744HP:0001433Hepatosplenomegaly1SCYL1 CL E G H5741014372ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndromeHP:0040282 - Frequent5
HP:0001744HP:0001433Hepatosplenomegaly1SEMA4D CL E G H1050710732ORPHA:171Primary sclerosing cholangitisHP:0040282 - Frequent
HP:0001744HP:0001433Hepatosplenomegaly1SLC25A13 CL E G H1016510983ORPHA:247598Neonatal intrahepatic cholestasis due to citrin deficiencyHP:0040282 - Frequent82
HP:0001744HP:0001433Hepatosplenomegaly1SLC29A3 CL E G H5531523096ORPHA:168569H syndromeHP:0040282 - Frequent68
HP:0001744HP:0001433Hepatosplenomegaly1SLC29A3 CL E G H5531523096OMIM:602782Histiocytosis-lymphadenopathy plus syndrome68
HP:0001744HP:0001433Hepatosplenomegaly1SLC2A1 CL E G H651311005ORPHA:168577Hereditary cryohydrocytosis with reduced stomatinHP:0040282 - Frequent255
HP:0001744HP:0001433Hepatosplenomegaly1SLC4A1 CL E G H652111027OMIM:611590Renal tubular acidosis, distal, with hemolytic anemia.109
HP:0001744HP:0001433Hepatosplenomegaly1SLC7A7 CL E G H905611065ORPHA:470Lysinuric protein intoleranceHP:0040282 - Frequent104
HP:0001744HP:0001433Hepatosplenomegaly1SMAD4 CL E G H40896770ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional504
HP:0001744HP:0001433Hepatosplenomegaly1SNX14 CL E G H5723114977ORPHA:397709Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndromeHP:0040283 - Occasional14
HP:0001744HP:0001433Hepatosplenomegaly1SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease61
HP:0001744HP:0001433Hepatosplenomegaly1SP110 CL E G H34315401ORPHA:79124Hepatic veno-occlusive disease-immunodeficiency syndromeHP:0040282 - Frequent49
HP:0001744HP:0001433Hepatosplenomegaly1SRSF2 CL E G H642710783ORPHA:98850Aggressive systemic mastocytosisHP:0040282 - Frequent1
HP:0001744HP:0001433Hepatosplenomegaly1STAT1 CL E G H677211362ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndromeHP:0040282 - Frequent89
HP:0001744HP:0001433Hepatosplenomegaly1STAT3 CL E G H677411364OMIM:615952AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1110
HP:0001744HP:0001433Hepatosplenomegaly1STAT4 CL E G H677511365ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040284 - Very rare2
HP:0001744HP:0001433Hepatosplenomegaly1STEAP3 CL E G H5524024592ORPHA:300298Severe congenital hypochromic anemia with ringed sideroblastsHP:0040283 - Occasional1
HP:0001744HP:0001433Hepatosplenomegaly1STXBP2 CL E G H681311445OMIM:613101HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL570
HP:0001744HP:0001433Hepatosplenomegaly1TALDO1 CL E G H688811559ORPHA:101028Transaldolase deficiencyHP:0040281 - Very frequent34
HP:0001744HP:0001433Hepatosplenomegaly1TALDO1 CL E G H688811559OMIM:606003Transaldolase deficiency34
HP:0001744HP:0001433Hepatosplenomegaly1TCF4 CL E G H692511634ORPHA:171Primary sclerosing cholangitisHP:0040282 - Frequent241
HP:0001744HP:0001433Hepatosplenomegaly1TCIRG1 CL E G H1031211647ORPHA:210110Intermediate osteopetrosisHP:0040284 - Very rare82
HP:0001744HP:0001433Hepatosplenomegaly1TET2 CL E G H5479025941ORPHA:98850Aggressive systemic mastocytosisHP:0040282 - Frequent3
HP:0001744HP:0001433Hepatosplenomegaly1TET2 CL E G H5479025941OMIM:619126IMMUNODEFICIENCY 75; IMD753
HP:0001744HP:0001433Hepatosplenomegaly1TET2 CL E G H5479025941ORPHA:824Primary myelofibrosisHP:0040282 - Frequent3
HP:0001744HP:0001433Hepatosplenomegaly1TFE3 CL E G H703011752OMIM:301066INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0001744HP:0001433Hepatosplenomegaly1TGFB1 CL E G H704011766OMIM:219700Cystic fibrosis13
HP:0001744HP:0001433Hepatosplenomegaly1TMEM67 CL E G H9114728396ORPHA:84081Senior-Boichis syndrome166
HP:0001744HP:0001433Hepatosplenomegaly1TNFSF11 CL E G H860011926OMIM:259710Osteopetrosis, autosomal recessive 2.44
HP:0001744HP:0001433Hepatosplenomegaly1TOM1 CL E G H1004311982ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndromeHP:0040282 - Frequent
HP:0001744HP:0001433Hepatosplenomegaly1TP53 CL E G H715711998ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional911
HP:0001744HP:0006268Fluctuating splenomegaly1TPP2 CL E G H717412016OMIM:619220IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0001744HP:0001433Hepatosplenomegaly1TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent56
HP:0001744HP:0001433Hepatosplenomegaly1TULP3 CL E G H728912425OMIM:619902
HP:0001744HP:0001433Hepatosplenomegaly1UNC13D CL E G H20129423147OMIM:608898HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3116
HP:0001744HP:0001433Hepatosplenomegaly1VPS33A CL E G H6508218179ORPHA:505248Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disordersHP:0040281 - Very frequent1
HP:0001744HP:0001433Hepatosplenomegaly1ZAP70 CL E G H753512858ORPHA:911Combined immunodeficiency due to ZAP70 deficiencyHP:0040283 - Occasional46
HP:0001744HP:0001433Hepatosplenomegaly1ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0001744HP:0001433Hepatosplenomegaly1ZNFX1 CL E G H5716929271OMIM:619644IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91


Genes (455) :ABCA1 ABCB11 ABCB4 ABCD3 ABCG8 ABL1 ADA ADA2 ADAMTS3 ADAR AFF4 AGA AGPAT2 AKR1D1 AKT1 ALAS2 ALDOA ALG1 ALG9 ALMS1 ALPK1 ANK1 ANKRD55 AP3B1 AP3D1 APOA1 APOC2 APOE ARSB ARVCF ASAH1 ASXL1 ATM ATP6AP1 ATP6V1B2 ATP7B ATP8B1 ATRX B2M B4GALT1 BACH2 BCL11A BCL2 BCL6 BCR BMP2 BMP6 BRAF BRCA1 BRCA2 BSCL2 BTD BTNL2 C4A CA2 CALR CARD11 CASK CASP10 CASP8 CASR CAV1 CAVIN1 CBL CC2D2A CCBE1 CCDC115 CCDC47 CCND1 CCR1 CD19 CD247 CD27 CD28 CD3D CD3E CD40LG CD70 CD81 CDAN1 CDIN1 CDKN2A CFAP410 CFTR CHD7 CLCN7 CLDN1 CLPB COG1 COG4 COG5 COG6 COG7 COMT COX10 COX4I2 CPOX CR2 CSF3R CTC1 CTLA4 CTNS CTSA CTSK CYBA CYBB CYBC1 CYP7B1 DCDC2 DCLRE1C DDRGK1 DGUOK DHCR24 DHCR7 DKC1 DLK1 DLL4 DNASE1L3 DNASE2 DPM1 DYNC2LI1 DZIP1L EPB41 EPB42 ERAP1 ERBB3 ERCC6 ERCC8 F5 FAH FARSA FAS FASLG FAT4 FCGR2A FCHO1 FERMT3 FGA FGFR2 FMO3 FOCAD FOXP3 FUCA1 G6PC3 G6PD GAA GALE GALK1 GATA1 GATA2 GBA1 GBE1 GCLC GEMIN4 GIMAP5 GLB1 GLIS3 GLRX5 GNB2 GNE GNPTAB GNS GP1BA GP1BB GPC3 GPC4 GPD1 GPI GPIHBP1 GPR35 GUSB GYPC HAMP HAVCR2 HBA1 HBA2 HBB HBG1 HBG2 HEXB HFE HGSNAT HIRA HJV HK1 HLA-B HLA-DRB1 HPGD HSD17B4 HSD3B7 IARS1 ICOS IDS IDUA IFIH1 IFNG IFNGR1 IFT140 IFT172 IGH IKBKG IKZF3 IL10 IL12A IL12A-AS1 IL1RN IL23R IL2RA IL2RB IL2RG IL6 IL6ST IL7R INPP5E INPPL1 IRF2BP2 IRF4 IRF8 ITCH ITK JAK1 JAK2 JAK3 JMJD1C KCNH1 KCNN3 KCNN4 KIF3B KIT KLF1 KLRC4 KPTN KRAS LACC1 LAT LBR LCAT LIG4 LIPA LMNA LPIN2 LPL LRBA LSM11 LYST LYZ MAGT1 MAN2B1 MCM4 MED12 MEFV MEG3 MICU1 MIF MKS1 MMUT MOGS MPIG6B MPL MS4A1 MST1 MVK MYD88 MYO5B NAGLU NBEAL2 NCF1 NCF2 NCF4 NCKAP1L NDUFS4 NEU1 NFKB1 NFKB2 NGLY1 NHLRC2 NHP2 NLRC4 NLRP1 NLRP12 NLRP3 NOD2 NOP10 NOTCH1 NOTCH2 NPC1 NPC2 NPHP3 NPM1 NRAS OAS1 OCLN OSTM1 OTC PALB2 PALLD PARN PDGFRA PEPD PEX2 PEX7 PHKA2 PHKB PHKG2 PHYH PIEZO1 PIGA PIGM PIK3C2A PIK3CA PIK3CD PIK3CG PIK3R1 PKHD1 PKLR PLEKHM1 PNP PNPLA2 PPARG PRF1 PRKCD PSAP PSMB10 PSMB4 PSMB8 PSMB9 PSMG2 PSTPIP1 PTEN PTPN2 PTPN22 PTPRC RAB27A RABL3 RAC2 RAG1 RAG2 RASGRP1 RBCK1 RBM8A RHAG RHCE RHD RINT1 RIPK1 RMRP RNASEH2A RNASEH2B RNASEH2C RNU4ATAC RNU7-1 RPGRIP1L RREB1 RTEL1 RTL1 RUNX1 SAMD9L SAMHD1 SC5D SCARB2 SCYL1 SEC23B SEC24C SEMA4D SERPINA1 SF3B1 SGSH SH2B3 SH2D1A SKIC2 SKIC3 SLC17A5 SLC25A13 SLC29A3 SLC2A1 SLC30A10 SLC37A4 SLC39A4 SLC4A1 SLC7A7 SLCO2A1 SMAD4 SMPD1 SNX10 SNX14 SOCS1 SOX10 SP110 SPTA1 SPTB SRSF2 STAT1 STAT3 STAT4 STEAP3 STX11 STXBP2 SUMF1 SYK TALDO1 TBX1 TBXAS1 TCF3 TCF4 TCIRG1 TERC TERT TET2 TFE3 TGFB1 THPO TINF2 TLR4 TLR8 TMEM67 TNFRSF11A TNFRSF13B TNFRSF13C TNFRSF1A TNFRSF1B TNFRSF4 TNFSF11 TNFSF12 TOM1 TP53 TPI1 TPP2 TREX1 TRNT1 TRPV6 TTC26 TULP3 TYMS UBAC2 UFD1 UMPS UNC13D UROD UROS USB1 USP53 VPS13A VPS33A VPS33B VPS45 WDR1 WDR35 WRAP53 XIAP XK YARS1 ZAP70 ZFYVE19 ZNF699 ZNFX1

Diseases (483) :OMIM:205400 ORPHA:31150 OMIM:601847 OMIM:602347 OMIM:616278 OMIM:210250 ORPHA:521 ORPHA:39041 OMIM:102700 OMIM:615688 ORPHA:2136 ORPHA:51 OMIM:615010 OMIM:616368 ORPHA:93 OMIM:608594 OMIM:235555 ORPHA:744 OMIM:176920 ORPHA:75563 OMIM:611881 OMIM:608540 OMIM:608776 ORPHA:64 OMIM:614979 ORPHA:251066 ORPHA:822 OMIM:182900 ORPHA:85408 OMIM:608233 OMIM:617050 OMIM:105200 OMIM:207750 OMIM:269600 ORPHA:158029 OMIM:253200 ORPHA:567 ORPHA:333 OMIM:228000 ORPHA:98850 ORPHA:98849 ORPHA:52416 OMIM:300972 ORPHA:3473 OMIM:277900 ORPHA:905 OMIM:211600 ORPHA:231401 ORPHA:79332 OMIM:618394 ORPHA:251380 ORPHA:545 OMIM:235200 ORPHA:465508 OMIM:115150 ORPHA:1333 OMIM:269700 OMIM:253260 OMIM:612387 ORPHA:117 OMIM:259730 ORPHA:131 ORPHA:3318 OMIM:254450 ORPHA:824 OMIM:187950 OMIM:616452 OMIM:300908 ORPHA:3261 OMIM:603909 OMIM:607271 OMIM:239200 ORPHA:417 OMIM:612526 OMIM:613327 ORPHA:1454 OMIM:616828 OMIM:618268 ORPHA:29073 ORPHA:1572 OMIM:240500 ORPHA:169160 OMIM:615122 ORPHA:2584 ORPHA:3162 OMIM:308230 OMIM:618261 OMIM:224120 OMIM:615631 OMIM:602271 OMIM:219700 ORPHA:667 OMIM:618541 ORPHA:210110 OMIM:611490 ORPHA:59303 OMIM:619813 ORPHA:263508 ORPHA:263501 OMIM:613489 ORPHA:263487 OMIM:614576 ORPHA:79333 OMIM:608779 OMIM:619046 OMIM:612714 OMIM:121300 OMIM:618892 OMIM:614699 OMIM:162830 ORPHA:1775 OMIM:616100 OMIM:219800 OMIM:256540 ORPHA:763 ORPHA:379 OMIM:233690 OMIM:306400 OMIM:618935 OMIM:613812 ORPHA:79302 OMIM:616217 OMIM:617394 ORPHA:84081 OMIM:603554 OMIM:602450 OMIM:602557 ORPHA:93352 OMIM:251880 OMIM:617068 ORPHA:35107 OMIM:270400 ORPHA:96334 OMIM:616589 ORPHA:36412 OMIM:619858 OMIM:608799 ORPHA:79322 OMIM:617088 ORPHA:731 OMIM:617610 OMIM:611804 ORPHA:288 OMIM:612690 OMIM:133180 ORPHA:90324 OMIM:133540 OMIM:216400 ORPHA:882 OMIM:276700 OMIM:619013 OMIM:601859 OMIM:619164 OMIM:612840 OMIM:614592 ORPHA:313855 OMIM:602079 OMIM:619991 ORPHA:37042 OMIM:230000 OMIM:612541 OMIM:232300 OMIM:230350 ORPHA:79237 ORPHA:231393 ORPHA:79277 OMIM:314050 ORPHA:3226 ORPHA:85212 ORPHA:77259 ORPHA:77260 ORPHA:77261 OMIM:608013 OMIM:230800 OMIM:230900 OMIM:231000 OMIM:231005 ORPHA:2072 OMIM:232500 ORPHA:33574 OMIM:617913 OMIM:619463 ORPHA:79255 OMIM:230500 OMIM:610199 OMIM:616860 OMIM:619503 OMIM:269921 ORPHA:3166 OMIM:252500 ORPHA:576 OMIM:252940 OMIM:153670 ORPHA:373 OMIM:312870 OMIM:614480 OMIM:613470 OMIM:615947 ORPHA:171 ORPHA:584 OMIM:253220 OMIM:613313 ORPHA:86884 OMIM:618398 ORPHA:163596 OMIM:613978 ORPHA:231222 ORPHA:231214 OMIM:603902 ORPHA:231226 ORPHA:231242 ORPHA:90039 ORPHA:2133 ORPHA:46532 OMIM:603903 OMIM:268800 ORPHA:309155 OMIM:252930 OMIM:602390 OMIM:235700 OMIM:181000 ORPHA:85414 ORPHA:2796 OMIM:261515 OMIM:607765 ORPHA:79301 ORPHA:541423 OMIM:607594 ORPHA:217093 ORPHA:217085 OMIM:309900 ORPHA:93473 OMIM:607014 ORPHA:93476 OMIM:607015 ORPHA:93474 OMIM:615846 OMIM:618963 OMIM:209950 OMIM:266920 OMIM:615630 OMIM:301081 OMIM:619437 OMIM:612852 OMIM:606367 OMIM:618495 OMIM:619750 OMIM:608971 ORPHA:169154 ORPHA:2746 ORPHA:3452 OMIM:226990 OMIM:613385 ORPHA:228426 OMIM:613011 OMIM:618999 OMIM:133100 ORPHA:71493 OMIM:263300 ORPHA:729 ORPHA:35078 OMIM:135500 ORPHA:3202 OMIM:616689 OMIM:618955 OMIM:613673 ORPHA:397612 OMIM:615637 OMIM:614470 OMIM:617514 OMIM:215140 OMIM:613471 ORPHA:79292 ORPHA:75234 OMIM:278000 ORPHA:75233 ORPHA:280365 ORPHA:2348 ORPHA:77297 OMIM:609628 OMIM:238600 OMIM:614700 ORPHA:167 OMIM:214500 OMIM:300853 OMIM:248500 ORPHA:309288 ORPHA:309282 OMIM:609981 OMIM:301068 ORPHA:342 OMIM:249100 OMIM:615673 OMIM:249000 ORPHA:79312 ORPHA:79330 OMIM:617441 OMIM:260920 ORPHA:29 OMIM:610377 ORPHA:33226 OMIM:619868 OMIM:252920 OMIM:139090 ORPHA:721 OMIM:233700 OMIM:233710 OMIM:618982 OMIM:252010 ORPHA:93400 ORPHA:93399 OMIM:256550 ORPHA:812 ORPHA:404454 OMIM:618278 OMIM:616050 OMIM:617388 OMIM:611762 ORPHA:1451 OMIM:607115 ORPHA:575 ORPHA:90340 OMIM:616028 ORPHA:955 OMIM:257220 OMIM:607625 OMIM:267010 OMIM:208540 OMIM:618042 OMIM:251290 OMIM:259720 ORPHA:664 OMIM:607685 OMIM:170100 ORPHA:742 OMIM:614866 ORPHA:773 ORPHA:264580 OMIM:306000 ORPHA:79240 OMIM:261750 OMIM:613027 OMIM:194380 OMIM:616843 OMIM:301072 OMIM:610293 OMIM:618440 OMIM:612918 OMIM:615513 OMIM:619802 OMIM:616005 ORPHA:53035 OMIM:263200 ORPHA:766 OMIM:266200 OMIM:618107 OMIM:613179 ORPHA:565612 ORPHA:79083 ORPHA:540 OMIM:603553 OMIM:615559 OMIM:611721 ORPHA:139406 OMIM:610539 OMIM:619175 OMIM:617591 OMIM:256040 OMIM:619183 OMIM:604416 OMIM:605309 ORPHA:2969 OMIM:619924 ORPHA:79477 OMIM:607624 OMIM:618986 ORPHA:231154 ORPHA:331206 OMIM:618534 OMIM:615895 OMIM:274000 ORPHA:3203 OMIM:185000 ORPHA:71275 OMIM:619462 OMIM:618641 OMIM:618852 OMIM:610333 OMIM:610329 OMIM:616651 ORPHA:353298 OMIM:619487 ORPHA:2585 OMIM:607330 ORPHA:466794 OMIM:616719 OMIM:224100 OMIM:613490 ORPHA:75564 OMIM:252900 OMIM:308240 ORPHA:84064 OMIM:222470 OMIM:269920 ORPHA:247598 ORPHA:168569 OMIM:602782 OMIM:612126 ORPHA:168577 OMIM:608885 ORPHA:309854 OMIM:619525 OMIM:232220 OMIM:201100 OMIM:185020 OMIM:611590 OMIM:612653 ORPHA:470 OMIM:222700 ORPHA:77293 OMIM:257200 OMIM:607616 OMIM:615085 ORPHA:397709 OMIM:616354 OMIM:619375 OMIM:609136 ORPHA:163746 ORPHA:79124 OMIM:616649 ORPHA:391487 OMIM:614162 OMIM:615952 OMIM:615234 ORPHA:300298 OMIM:603552 OMIM:613101 OMIM:272200 ORPHA:585 OMIM:619381 ORPHA:101028 OMIM:606003 OMIM:188400 ORPHA:1802 OMIM:619824 OMIM:259700 OMIM:619126 OMIM:301066 ORPHA:1328 OMIM:301078 OMIM:216360 OMIM:612301 ORPHA:32960 OMIM:615593 OMIM:259710 OMIM:615512 ORPHA:444463 OMIM:619220 OMIM:225750 OMIM:616084 OMIM:619534 OMIM:619902 ORPHA:30 OMIM:608898 ORPHA:95159 OMIM:263700 OMIM:604173 OMIM:619658 ORPHA:2388 ORPHA:505248 OMIM:617303 OMIM:620010 OMIM:615285 OMIM:150550 OMIM:613610 OMIM:300635 OMIM:300842 OMIM:619418 ORPHA:911 OMIM:269840 OMIM:619849 OMIM:619488 OMIM:619644
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.