Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the digestive system (HP:0025031)help
Parent Node:
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Abnormal abdomen morphology (HP:0001438)help
..Starting node
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Visceromegaly (HP:0003271)help
Term ID: 3271
Name: Visceromegaly
Synonym:
Definition: Abnormal increased size of the viscera of the abdomen.
Comments:
Reference: HP:0003271
Genes and Diseases:
 
       Child Nodes:
........expandHepatosplenomegaly (HP:0001433) help
........expandSplenomegaly (HP:0001744) help
................... HP:0006268 Fluctuating splenomegaly
........expandHepatomegaly (HP:0002240) help
................... HP:0006564 Fluctuating hepatomegaly

 Sister Nodes: 
..expandAbdominal aseptic abscess (HP:0025181) help
..expandAbdominal mass (HP:0031500) help
..expandAscites (HP:0001541) help
..expandDuplication of internal organs (HP:0005217) help
..expandPelvic mass (HP:0031501) help
..expandPelvic organ prolapse (HP:0031607) 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:0003271HP:0003271Visceromegaly0ABCA1 CL E G H1929ORPHA:31150Tangier disease191
HP:0003271HP:0003271Visceromegaly0ABCA1 CL E G H1929OMIM:205400Tangier disease191
HP:0003271HP:0003271Visceromegaly0ABCB11 CL E G H864742OMIM:605479Cholestasis, benign recurrent intrahepatic, 2146
HP:0003271HP:0003271Visceromegaly0ABCB11 CL E G H864742OMIM:601847Cholestasis, progressive familial intrahepatic 2146
HP:0003271HP:0003271Visceromegaly0ABCB4 CL E G H524445OMIM:602347Cholestasis, progressive familial intrahepatic, 3111
HP:0003271HP:0003271Visceromegaly0ABCC2 CL E G H124453ORPHA:234Dubin-Johnson syndrome119
HP:0003271HP:0003271Visceromegaly0ABCC8 CL E G H683359ORPHA:276575Autosomal dominant hyperinsulinism due to SUR1 deficiency245
HP:0003271HP:0003271Visceromegaly0ABCD3 CL E G H582567OMIM:616278BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS55
HP:0003271HP:0003271Visceromegaly0ABCG8 CL E G H6424113887OMIM:210250Sitosterolemia 176
HP:0003271HP:0003271Visceromegaly0ABHD5 CL E G H5109921396OMIM:275630Chanarin-Dorfman syndrome90
HP:0003271HP:0003271Visceromegaly0ABHD5 CL E G H5109921396ORPHA:98907Neutral lipid storage disease with ichthyosis90
HP:0003271HP:0003271Visceromegaly0ABL1 CL E G H2576ORPHA:521Chronic myeloid leukemia51
HP:0003271HP:0003271Visceromegaly0ACADM CL E G H3489OMIM:201450Acyl-Coa dehydrogenase, medium-chain, deficiency of197
HP:0003271HP:0003271Visceromegaly0ACADM CL E G H3489ORPHA:42Medium chain acyl-CoA dehydrogenase deficiency197
HP:0003271HP:0003271Visceromegaly0ACADVL CL E G H3792ORPHA:26793Very long chain acyl-CoA dehydrogenase deficiency200
HP:0003271HP:0003271Visceromegaly0ACADVL CL E G H3792OMIM:201475Very long-chain acyl-CoA dehydrogenase deficiency200
HP:0003271HP:0003271Visceromegaly0ACAT1 CL E G H3893ORPHA:134Beta-ketothiolase deficiency91
HP:0003271HP:0003271Visceromegaly0ACOX1 CL E G H51119OMIM:264470Peroxisomal acyl-coa oxidase deficiency120
HP:0003271HP:0003271Visceromegaly0ACOX1 CL E G H51119ORPHA:2971Peroxisomal acyl-CoA oxidase deficiency120
HP:0003271HP:0003271Visceromegaly0ADA CL E G H100186ORPHA:39041Omenn syndrome75
HP:0003271HP:0003271Visceromegaly0ADA CL E G H100186OMIM:102700Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency75
HP:0003271HP:0003271Visceromegaly0ADA2 CL E G H518161839OMIM:615688Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome22
HP:0003271HP:0003271Visceromegaly0ADAMTS3 CL E G H9508219ORPHA:2136Hennekam syndrome1
HP:0003271HP:0003271Visceromegaly0ADAMTSL2 CL E G H971914631OMIM:231050Geleophysic dysplasia 172
HP:0003271HP:0003271Visceromegaly0ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndrome116
HP:0003271HP:0003271Visceromegaly0ADAR CL E G H103225OMIM:615010Aicardi-Goutieres syndrome 6116
HP:0003271HP:0003271Visceromegaly0AFF4 CL E G H2712517869OMIM:616368CHOPS syndrome6
HP:0003271HP:0003271Visceromegaly0AGA CL E G H175318ORPHA:93Aspartylglucosaminuria76
HP:0003271HP:0003271Visceromegaly0AGA CL E G H175318OMIM:208400ASPARTYLGLUCOSAMINURIA76
HP:0003271HP:0003271Visceromegaly0AGGF1 CL E G H5510924684ORPHA:90308Klippel-Trénaunay syndrome1
HP:0003271HP:0003271Visceromegaly0AGL CL E G H178321OMIM:232400Glycogen storage disease III216
HP:0003271HP:0003271Visceromegaly0AGPAT2 CL E G H10555325ORPHA:528Congenital generalized lipodystrophy85
HP:0003271HP:0003271Visceromegaly0AGPAT2 CL E G H10555325OMIM:608594Lipodystrophy, congenital generalized, type 185
HP:0003271HP:0003271Visceromegaly0AKR1D1 CL E G H6718388OMIM:235555Bile acid synthesis defect, congenital, 262
HP:0003271HP:0003271Visceromegaly0AKR1D1 CL E G H6718388ORPHA:79303Congenital bile acid synthesis defect type 262
HP:0003271HP:0003271Visceromegaly0AKT1 CL E G H207391ORPHA:744Proteus syndrome54
HP:0003271HP:0003271Visceromegaly0AKT1 CL E G H207391OMIM:176920Proteus syndrome, somatic54
HP:0003271HP:0003271Visceromegaly0AKT2 CL E G H208392ORPHA:79085AKT2-related familial partial lipodystrophy12
HP:0003271HP:0003271Visceromegaly0ALAS2 CL E G H212397ORPHA:75563X-linked sideroblastic anemia72
HP:0003271HP:0003271Visceromegaly0ALDH1A2 CL E G H885415472OMIM:620025
HP:0003271HP:0003271Visceromegaly0ALDOA CL E G H226414OMIM:611881Glycogen storage disease XII50
HP:0003271HP:0003271Visceromegaly0ALDOB CL E G H229417OMIM:229600Fructose intolerance, hereditary73
HP:0003271HP:0003271Visceromegaly0ALDOB CL E G H229417ORPHA:469Hereditary fructose intolerance73
HP:0003271HP:0003271Visceromegaly0ALG1 CL E G H5605218294OMIM:608540Congenital disorder of glycosylation, type Ik58
HP:0003271HP:0003271Visceromegaly0ALG13 CL E G H7986830881OMIM:300884Epileptic encephalopathy, early infantile, 3696
HP:0003271HP:0003271Visceromegaly0ALG2 CL E G H8536523159ORPHA:79326ALG2-CDG46
HP:0003271HP:0003271Visceromegaly0ALG2 CL E G H8536523159OMIM:607906Congenital disorder of glycosylation, type Ii46
HP:0003271HP:0003271Visceromegaly0ALG8 CL E G H7905323161OMIM:608104Congenital disorder of glycosylation, type Ih46
HP:0003271HP:0003271Visceromegaly0ALG9 CL E G H7979615672ORPHA:79328ALG9-CDG93
HP:0003271HP:0003271Visceromegaly0ALG9 CL E G H7979615672OMIM:608776Congenital disorder of glycosylation, type Il93
HP:0003271HP:0003271Visceromegaly0ALMS1 CL E G H7840428ORPHA:64Alström syndrome404
HP:0003271HP:0003271Visceromegaly0ALMS1 CL E G H7840428OMIM:203800Alstrom syndrome404
HP:0003271HP:0003271Visceromegaly0ALPK1 CL E G H8021620917OMIM:614979Splenomegaly, cytopenia, and vision loss
HP:0003271HP:0003271Visceromegaly0AMACR CL E G H23600451OMIM:214950Bile acid synthesis defect, congenital, 444
HP:0003271HP:0003271Visceromegaly0ANK1 CL E G H286492ORPHA:2510668p11.2 deletion syndrome150
HP:0003271HP:0003271Visceromegaly0ANK1 CL E G H286492ORPHA:822Hereditary spherocytosis150
HP:0003271HP:0003271Visceromegaly0ANK1 CL E G H286492OMIM:182900Spherocytosis, type 1150
HP:0003271HP:0003271Visceromegaly0ANKRD55 CL E G H7972225681ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0003271HP:0003271Visceromegaly0ANTXR1 CL E G H8416821014OMIM:230740Gapo syndrome8
HP:0003271HP:0003271Visceromegaly0AP3B1 CL E G H8546566OMIM:608233Hermansky-Pudlak syndrome 283
HP:0003271HP:0003271Visceromegaly0AP3D1 CL E G H8943568OMIM:617050HERMANSKY-PUDLAK SYNDROME 10; HPS101
HP:0003271HP:0003271Visceromegaly0APOA1 CL E G H335600OMIM:105200Amyloidosis, familial visceral40
HP:0003271HP:0003271Visceromegaly0APOC2 CL E G H344609OMIM:207750APOLIPOPROTEIN C-II DEFICIENCY27
HP:0003271HP:0003271Visceromegaly0APOE CL E G H348613ORPHA:412Dysbetalipoproteinemia39
HP:0003271HP:0003271Visceromegaly0APOE CL E G H348613OMIM:269600Sea-Blue histiocyte disease39
HP:0003271HP:0003271Visceromegaly0APOE CL E G H348613ORPHA:158029Sea-blue histiocytosis39
HP:0003271HP:0003271Visceromegaly0ARG1 CL E G H383663OMIM:207800Argininemia31
HP:0003271HP:0003271Visceromegaly0ARL13B CL E G H20089425419OMIM:612291JOUBERT SYNDROME 8; JBTS862
HP:0003271HP:0003271Visceromegaly0ARSB CL E G H411714OMIM:253200Mucopolysaccharidosis, type VI120
HP:0003271HP:0003271Visceromegaly0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndrome1
HP:0003271HP:0003271Visceromegaly0ASAH1 CL E G H427735ORPHA:333Farber disease78
HP:0003271HP:0003271Visceromegaly0ASAH1 CL E G H427735OMIM:228000Farber lipogranulomatosis78
HP:0003271HP:0003271Visceromegaly0ASL CL E G H435746OMIM:207900Argininosuccinic aciduria81
HP:0003271HP:0003271Visceromegaly0ASS1 CL E G H445758OMIM:215700Citrullinemia, classic119
HP:0003271HP:0003271Visceromegaly0ASXL1 CL E G H17102318318ORPHA:98850Aggressive systemic mastocytosis145
HP:0003271HP:0003271Visceromegaly0ASXL1 CL E G H17102318318ORPHA:98849Systemic mastocytosis with associated hematologic neoplasm145
HP:0003271HP:0003271Visceromegaly0ATAD3A CL E G H5521025567OMIM:618810PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL5
HP:0003271HP:0003271Visceromegaly0ATM CL E G H472795ORPHA:52416Mantle cell lymphoma3267
HP:0003271HP:0003271Visceromegaly0ATP6 CL E G H45087414ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0003271HP:0003271Visceromegaly0ATP6AP1 CL E G H537868OMIM:300972IMMUNODEFICIENCY 47; IMD475
HP:0003271HP:0003271Visceromegaly0ATP6AP2 CL E G H1015918305OMIM:301045CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R36
HP:0003271HP:0003271Visceromegaly0ATP6V1B2 CL E G H526854ORPHA:3473Zimmermann-Laband syndrome5
HP:0003271HP:0003271Visceromegaly0ATP7B CL E G H540870OMIM:277900Wilson disease315
HP:0003271HP:0003271Visceromegaly0ATP7B CL E G H540870ORPHA:905Wilson disease315
HP:0003271HP:0003271Visceromegaly0ATP8B1 CL E G H52053706OMIM:243300Cholestasis, benign recurrent intrahepatic 1144
HP:0003271HP:0003271Visceromegaly0ATP8B1 CL E G H52053706OMIM:211600Cholestasis, progressive familial intrahepatic 1144
HP:0003271HP:0003271Visceromegaly0ATPAF2 CL E G H9164718802OMIM:604273Mitochondrial complex V (atp synthase) deficiency, nuclear type 132
HP:0003271HP:0003271Visceromegaly0ATRX CL E G H546886ORPHA:231401Alpha-thalassemia-myelodysplastic syndrome169
HP:0003271HP:0003271Visceromegaly0ATRX CL E G H546886ORPHA:100075Neuroendocrine tumor of stomach169
HP:0003271HP:0003271Visceromegaly0AUH CL E G H549890ORPHA:670463-methylglutaconic aciduria type 149
HP:0003271HP:0003271Visceromegaly0B2M CL E G H567914OMIM:105200Amyloidosis, familial visceral8
HP:0003271HP:0003271Visceromegaly0B4GALT1 CL E G H2683924ORPHA:79332B4GALT1-CDG85
HP:0003271HP:0003271Visceromegaly0BAAT CL E G H570932OMIM:619232BILE ACID CONJUGATION DEFECT 1; BACD163
HP:0003271HP:0003271Visceromegaly0BACH2 CL E G H6046814078OMIM:618394IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0003271HP:0003271Visceromegaly0BAP1 CL E G H8314950ORPHA:50251Pleural mesothelioma184
HP:0003271HP:0003271Visceromegaly0BCL11A CL E G H5333513221ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome11
HP:0003271HP:0003271Visceromegaly0BCL2 CL E G H596990ORPHA:545Follicular lymphoma1
HP:0003271HP:0003271Visceromegaly0BCL6 CL E G H6041001ORPHA:545Follicular lymphoma1
HP:0003271HP:0003271Visceromegaly0BCR CL E G H6131014ORPHA:521Chronic myeloid leukemia5
HP:0003271HP:0003271Visceromegaly0BMP2 CL E G H6501069OMIM:235200Hemochromatosis, type 113
HP:0003271HP:0003271Visceromegaly0BMP6 CL E G H6541073ORPHA:465508Symptomatic form of hemochromatosis type 1
HP:0003271HP:0003271Visceromegaly0BOLA3 CL E G H38896224415OMIM:614299Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia14
HP:0003271HP:0003271Visceromegaly0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0003271HP:0003271Visceromegaly0BRCA1 CL E G H6721100ORPHA:1333Familial pancreatic carcinoma5769
HP:0003271HP:0003271Visceromegaly0BRCA2 CL E G H6751101ORPHA:1333Familial pancreatic carcinoma7642
HP:0003271HP:0003271Visceromegaly0BSCL2 CL E G H2658015832ORPHA:528Congenital generalized lipodystrophy105
HP:0003271HP:0003271Visceromegaly0BSCL2 CL E G H2658015832OMIM:615924Encephalopathy, progressive, with or without lipodystrophy105
HP:0003271HP:0003271Visceromegaly0BSCL2 CL E G H2658015832OMIM:269700Lipodystrophy, congenital generalized, type 2105
HP:0003271HP:0003271Visceromegaly0BSCL2 CL E G H2658015832ORPHA:363400Severe neurodegenerative syndrome with lipodystrophy105
HP:0003271HP:0003271Visceromegaly0BTD CL E G H6861122OMIM:253260Biotinidase deficiencymultiple carboxylase deficiency, late-onset223
HP:0003271HP:0003271Visceromegaly0BTNL2 CL E G H562441142ORPHA:797Sarcoidosis1
HP:0003271HP:0003271Visceromegaly0BTNL2 CL E G H562441142OMIM:612387Sarcoidosis, susceptibility to, 21
HP:0003271HP:0003271Visceromegaly0C1QBP CL E G H7081243OMIM:617713Combined oxidative phosphorylation deficiency 33
HP:0003271HP:0003271Visceromegaly0C2ORF69 CL E G H20532726799OMIM:619423COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0003271HP:0003271Visceromegaly0C4A CL E G H7201323ORPHA:117Behçet disease1
HP:0003271HP:0003271Visceromegaly0CA2 CL E G H7601373ORPHA:2785Osteopetrosis with renal tubular acidosis29
HP:0003271HP:0003271Visceromegaly0CA2 CL E G H7601373OMIM:259730Osteopetrosis, autosomal recessive 329
HP:0003271HP:0003271Visceromegaly0CALR CL E G H8111455ORPHA:131Budd-Chiari syndrome1
HP:0003271HP:0003271Visceromegaly0CALR CL E G H8111455ORPHA:3318Essential thrombocythemia1
HP:0003271HP:0003271Visceromegaly0CALR CL E G H8111455OMIM:254450Myelofibrosismyelofibrosis with myeloid metaplasia, included1
HP:0003271HP:0003271Visceromegaly0CALR CL E G H8111455ORPHA:824Primary myelofibrosis1
HP:0003271HP:0003271Visceromegaly0CALR CL E G H8111455OMIM:187950THROMBOCYTHEMIA 1; THCYT11
HP:0003271HP:0003271Visceromegaly0CARD11 CL E G H8443316393OMIM:616452B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA45
HP:0003271HP:0003271Visceromegaly0CASK CL E G H85731497OMIM:300908Anemia, nonspherocytic hemolytic, due to g6pd deficiency118
HP:0003271HP:0003271Visceromegaly0CASP10 CL E G H8431500ORPHA:3261Autoimmune lymphoproliferative syndrome87
HP:0003271HP:0003271Visceromegaly0CASP10 CL E G H8431500OMIM:603909Autoimmune lymphoproliferative syndrome, type IIA87
HP:0003271HP:0003271Visceromegaly0CASP8 CL E G H8411509OMIM:607271CASPASE 8 DEFICIENCY37
HP:0003271HP:0003271Visceromegaly0CASR CL E G H8461514OMIM:239200Hyperparathyroidism, neonatal severe272
HP:0003271HP:0003271Visceromegaly0CASR CL E G H8461514ORPHA:417Neonatal severe primary hyperparathyroidism272
HP:0003271HP:0003271Visceromegaly0CAV1 CL E G H8571527ORPHA:528Congenital generalized lipodystrophy11
HP:0003271HP:0003271Visceromegaly0CAV1 CL E G H8571527OMIM:612526Lipodystrophy, congenital generalized, type 311
HP:0003271HP:0003271Visceromegaly0CAVIN1 CL E G H2841199688ORPHA:528Congenital generalized lipodystrophy48
HP:0003271HP:0003271Visceromegaly0CAVIN1 CL E G H2841199688OMIM:613327Lipodystrophy, congenital generalized, type 448
HP:0003271HP:0003271Visceromegaly0CBL CL E G H8671541ORPHA:98850Aggressive systemic mastocytosis317
HP:0003271HP:0003271Visceromegaly0CBL CL E G H8671541ORPHA:648Noonan syndrome317
HP:0003271HP:0003271Visceromegaly0CBS CL E G H8751550ORPHA:394Classic homocystinuria242
HP:0003271HP:0003271Visceromegaly0CC2D2A CL E G H5754529253ORPHA:1454Joubert syndrome with hepatic defect247
HP:0003271HP:0003271Visceromegaly0CCBE1 CL E G H14737229426ORPHA:2136Hennekam syndrome147
HP:0003271HP:0003271Visceromegaly0CCDC115 CL E G H8431728178OMIM:616828Congenital disorder of glycosylation, type IIO3
HP:0003271HP:0003271Visceromegaly0CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndrome
HP:0003271HP:0003271Visceromegaly0CCND1 CL E G H5951582ORPHA:52416Mantle cell lymphoma1
HP:0003271HP:0003271Visceromegaly0CCND1 CL E G H5951582ORPHA:29073Multiple myeloma1
HP:0003271HP:0003271Visceromegaly0CCR1 CL E G H12301602ORPHA:117Behçet disease
HP:0003271HP:0003271Visceromegaly0CD19 CL E G H9301633ORPHA:1572Common variable immunodeficiency38
HP:0003271HP:0003271Visceromegaly0CD19 CL E G H9301633OMIM:240500Immunodeficiency, common variable, 238
HP:0003271HP:0003271Visceromegaly0CD247 CL E G H9191677ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis8
HP:0003271HP:0003271Visceromegaly0CD247 CL E G H9191677ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta8
HP:0003271HP:0003271Visceromegaly0CD27 CL E G H93911922OMIM:615122Lymphoproliferative syndrome 24
HP:0003271HP:0003271Visceromegaly0CD28 CL E G H9401653ORPHA:2584Classic mycosis fungoides
HP:0003271HP:0003271Visceromegaly0CD28 CL E G H9401653ORPHA:3162Sézary syndrome
HP:0003271HP:0003271Visceromegaly0CD3D CL E G H9151673ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta18
HP:0003271HP:0003271Visceromegaly0CD3E CL E G H9161674ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta24
HP:0003271HP:0003271Visceromegaly0CD40LG CL E G H95911935OMIM:308230Immunodeficiency, X-linked, with hyper-IgM33
HP:0003271HP:0003271Visceromegaly0CD55 CL E G H16042665OMIM:226300Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy9
HP:0003271HP:0003271Visceromegaly0CD70 CL E G H97011937OMIM:618261LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0003271HP:0003271Visceromegaly0CD81 CL E G H9751701ORPHA:1572Common variable immunodeficiency1
HP:0003271HP:0003271Visceromegaly0CD81 CL E G H9751701OMIM:613496Immunodeficiency, common variable, 61
HP:0003271HP:0003271Visceromegaly0CD96 CL E G H1022516892OMIM:211750C syndrome83
HP:0003271HP:0003271Visceromegaly0CDAN1 CL E G H1460591713OMIM:224120Anemia, congenital dyserythropoietic, type Ia86
HP:0003271HP:0003271Visceromegaly0CDIN1 CL E G H8452926929OMIM:615631Anemia, congenital dyserythropoietic, type Ib
HP:0003271HP:0003271Visceromegaly0CDKN1C CL E G H10281786OMIM:130650Beckwith-Wiedemann syndrome114
HP:0003271HP:0003271Visceromegaly0CDKN2A CL E G H10291787ORPHA:1333Familial pancreatic carcinoma289
HP:0003271HP:0003271Visceromegaly0CFAP410 CL E G H7551260OMIM:602271Spondylometaphyseal dysplasia, axial
HP:0003271HP:0003271Visceromegaly0CFTR CL E G H10801884OMIM:219700Cystic fibrosis1371
HP:0003271HP:0003271Visceromegaly0CHD7 CL E G H5563620626ORPHA:39041Omenn syndrome515
HP:0003271HP:0003271Visceromegaly0CIDEC CL E G H6392424229ORPHA:435651CIDEC-related familial partial lipodystrophy8
HP:0003271HP:0003271Visceromegaly0CIDEC CL E G H6392424229OMIM:615238Lipodystrophy, familial partial, type 58
HP:0003271HP:0003271Visceromegaly0CLCN7 CL E G H11862025ORPHA:667Autosomal recessive malignant osteopetrosis102
HP:0003271HP:0003271Visceromegaly0CLCN7 CL E G H11862025OMIM:618541Hypopigmentation, organomegaly, and delayed myelination and development102
HP:0003271HP:0003271Visceromegaly0CLCN7 CL E G H11862025ORPHA:210110Intermediate osteopetrosis102
HP:0003271HP:0003271Visceromegaly0CLCN7 CL E G H11862025OMIM:611490Osteopetrosis, autosomal recessive 4102
HP:0003271HP:0003271Visceromegaly0CLDN1 CL E G H90762032OMIM:607626Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis11
HP:0003271HP:0003271Visceromegaly0CLDN1 CL E G H90762032ORPHA:59303Neonatal ichthyosis-sclerosing cholangitis syndrome11
HP:0003271HP:0003271Visceromegaly0CLPB CL E G H8157030664OMIM:619813NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT; SCN938
HP:0003271HP:0003271Visceromegaly0CNTNAP2 CL E G H2604713830ORPHA:163681CNTNAP2-related developmental and epileptic encephalopathy518
HP:0003271HP:0003271Visceromegaly0COA8 CL E G H8433420492ORPHA:436271Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0003271HP:0003271Visceromegaly0COG1 CL E G H93826545ORPHA:263508COG1-CDG52
HP:0003271HP:0003271Visceromegaly0COG4 CL E G H2583918620ORPHA:263501COG4-CDG67
HP:0003271HP:0003271Visceromegaly0COG4 CL E G H2583918620OMIM:613489Congenital disorder of glycosylation, type IIj67
HP:0003271HP:0003271Visceromegaly0COG5 CL E G H1046614857ORPHA:263487COG5-CDG79
HP:0003271HP:0003271Visceromegaly0COG6 CL E G H5751118621OMIM:614576CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L71
HP:0003271HP:0003271Visceromegaly0COG7 CL E G H9194918622ORPHA:79333COG7-CDG64
HP:0003271HP:0003271Visceromegaly0COG7 CL E G H9194918622OMIM:608779Congenital disorder of glycosylation, type IIe64
HP:0003271HP:0003271Visceromegaly0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndrome6
HP:0003271HP:0003271Visceromegaly0COX10 CL E G H13522260OMIM:619046MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN382
HP:0003271HP:0003271Visceromegaly0COX14 CL E G H8498728216OMIM:619053MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN104
HP:0003271HP:0003271Visceromegaly0COX4I2 CL E G H8470116232OMIM:612714Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis13
HP:0003271HP:0003271Visceromegaly0COX5A CL E G H93772267OMIM:619064MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0003271HP:0003271Visceromegaly0CPOX CL E G H13712321OMIM:121300Coproporphyria72
HP:0003271HP:0003271Visceromegaly0CPOX CL E G H13712321OMIM:618892Harderoporphyria72
HP:0003271HP:0003271Visceromegaly0CPT1A CL E G H13742328ORPHA:156Carnitine palmitoyl transferase 1A deficiency99
HP:0003271HP:0003271Visceromegaly0CPT1A CL E G H13742328OMIM:255120Carnitine palmitoyltransferase I deficiency99
HP:0003271HP:0003271Visceromegaly0CPT2 CL E G H13762330ORPHA:228308Carnitine palmitoyl transferase II deficiency, neonatal form101
HP:0003271HP:0003271Visceromegaly0CPT2 CL E G H13762330ORPHA:228305Carnitine palmitoyl transferase II deficiency, severe infantile form101
HP:0003271HP:0003271Visceromegaly0CPT2 CL E G H13762330OMIM:600649Carnitine palmitoyltransferase II deficiency, infantile101
HP:0003271HP:0003271Visceromegaly0CPT2 CL E G H13762330OMIM:608836Carnitine palmitoyltransferase II deficiency, lethal neonatal101
HP:0003271HP:0003271Visceromegaly0CR2 CL E G H13802336ORPHA:1572Common variable immunodeficiency10
HP:0003271HP:0003271Visceromegaly0CR2 CL E G H13802336OMIM:240500Immunodeficiency, common variable, 210
HP:0003271HP:0003271Visceromegaly0CR2 CL E G H13802336OMIM:614699IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID710
HP:0003271HP:0003271Visceromegaly0CSF3R CL E G H14412439OMIM:162830Neutrophilia, hereditary34
HP:0003271HP:0003271Visceromegaly0CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenita160
HP:0003271HP:0003271Visceromegaly0CTLA4 CL E G H14932505OMIM:616100AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS510
HP:0003271HP:0003271Visceromegaly0CTLA4 CL E G H14932505ORPHA:2584Classic mycosis fungoides10
HP:0003271HP:0003271Visceromegaly0CTLA4 CL E G H14932505ORPHA:3162Sézary syndrome10
HP:0003271HP:0003271Visceromegaly0CTNNB1 CL E G H14992514ORPHA:33402Pediatric hepatocellular carcinoma88
HP:0003271HP:0003271Visceromegaly0CTNS CL E G H14972518OMIM:219800Cystinosis, nephropathic178
HP:0003271HP:0003271Visceromegaly0CTSA CL E G H54769251OMIM:256540Galactosialidosis51
HP:0003271HP:0003271Visceromegaly0CTSK CL E G H15132536ORPHA:763Pycnodysostosis39
HP:0003271HP:0003271Visceromegaly0CYBA CL E G H15352577ORPHA:379Chronic granulomatous disease27
HP:0003271HP:0003271Visceromegaly0CYBA CL E G H15352577OMIM:233690GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE27
HP:0003271HP:0003271Visceromegaly0CYBB CL E G H15362578ORPHA:379Chronic granulomatous disease111
HP:0003271HP:0003271Visceromegaly0CYBB CL E G H15362578OMIM:306400Chronic granulomatous disease, X-linked111
HP:0003271HP:0003271Visceromegaly0CYBC1 CL E G H7941528672ORPHA:379Chronic granulomatous disease
HP:0003271HP:0003271Visceromegaly0CYBC1 CL E G H7941528672OMIM:618935GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0003271HP:0003271Visceromegaly0CYP7B1 CL E G H94202652OMIM:613812Bile acid synthesis defect, congenital, 357
HP:0003271HP:0003271Visceromegaly0CYP7B1 CL E G H94202652ORPHA:79302Congenital bile acid synthesis defect type 357
HP:0003271HP:0003271Visceromegaly0CYTB CL E G H45197427ORPHA:137675Histiocytoid cardiomyopathy
HP:0003271HP:0003271Visceromegaly0DAXX CL E G H16162681ORPHA:100075Neuroendocrine tumor of stomach
HP:0003271HP:0003271Visceromegaly0DCDC2 CL E G H5147318141OMIM:616217Nephronophthisis 198
HP:0003271HP:0003271Visceromegaly0DCDC2 CL E G H5147318141OMIM:617394Sclerosing cholangitis, neonatal8
HP:0003271HP:0003271Visceromegaly0DCDC2 CL E G H5147318141ORPHA:84081Senior-Boichis syndrome8
HP:0003271HP:0003271Visceromegaly0DCLRE1C CL E G H6442117642OMIM:603554Omenn syndrome94
HP:0003271HP:0003271Visceromegaly0DCLRE1C CL E G H6442117642ORPHA:39041Omenn syndrome94
HP:0003271HP:0003271Visceromegaly0DCLRE1C CL E G H6442117642OMIM:602450Severe combined immunodeficiency with sensitivity to ionizing radiation94
HP:0003271HP:0003271Visceromegaly0DDRGK1 CL E G H6599216110OMIM:602557Spondyloepimetaphyseal dysplasia, Shohat type
HP:0003271HP:0003271Visceromegaly0DDRGK1 CL E G H6599216110ORPHA:93352Spondyloepimetaphyseal dysplasia, Shohat type
HP:0003271HP:0003271Visceromegaly0DEF6 CL E G H506192760OMIM:619573IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0003271HP:0003271Visceromegaly0DGUOK CL E G H17162858OMIM:251880Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)57
HP:0003271HP:0003271Visceromegaly0DGUOK CL E G H17162858OMIM:617068Portal hypertension, noncirrhotic57
HP:0003271HP:0003271Visceromegaly0DHCR24 CL E G H17182859ORPHA:35107Desmosterolosis72
HP:0003271HP:0003271Visceromegaly0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0003271HP:0003271Visceromegaly0DHDDS CL E G H7994720603OMIM:613861Retinitis pigmentosa 5947
HP:0003271HP:0003271Visceromegaly0DHFR CL E G H17192861OMIM:613839Megaloblastic anemia due to dihydrofolate reductase deficiency7
HP:0003271HP:0003271Visceromegaly0DIS3L2 CL E G H12956328648OMIM:267000Perlman syndrome.164
HP:0003271HP:0003271Visceromegaly0DIS3L2 CL E G H12956328648ORPHA:2849Perlman syndrome164
HP:0003271HP:0003271Visceromegaly0DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenita65
HP:0003271HP:0003271Visceromegaly0DLD CL E G H17382898OMIM:246900Dihydrolipoamide dehydrogenase deficiency89
HP:0003271HP:0003271Visceromegaly0DLD CL E G H17382898ORPHA:2394Pyruvate dehydrogenase E3 deficiency89
HP:0003271HP:0003271Visceromegaly0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0003271HP:0003271Visceromegaly0DLL4 CL E G H545672910OMIM:616589Adams-Oliver syndrome 69
HP:0003271HP:0003271Visceromegaly0DNAJC21 CL E G H13421827030ORPHA:811Shwachman-Diamond syndrome5
HP:0003271HP:0003271Visceromegaly0DNAJC21 CL E G H13421827030OMIM:260400Shwachman-Diamond syndrome 15
HP:0003271HP:0003271Visceromegaly0DNASE1L3 CL E G H17762959ORPHA:36412Hypocomplementemic urticarial vasculitis3
HP:0003271HP:0003271Visceromegaly0DNASE2 CL E G H17772960OMIM:619858
HP:0003271HP:0003271Visceromegaly0DOCK2 CL E G H17942988OMIM:616433Immunodeficiency 406
HP:0003271HP:0003271Visceromegaly0DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDG38
HP:0003271HP:0003271Visceromegaly0DPM1 CL E G H88133005OMIM:608799Congenital disorder of glycosylation, type IE27
HP:0003271HP:0003271Visceromegaly0DPM1 CL E G H88133005ORPHA:79322DPM1-CDG27
HP:0003271HP:0003271Visceromegaly0DPM2 CL E G H88183006ORPHA:329178Congenital muscular dystrophy with intellectual disability and severe epilepsy26
HP:0003271HP:0003271Visceromegaly0DYNC2LI1 CL E G H5162624595OMIM:617088Short-rib thoracic dysplasia 15 with polydactyly7
HP:0003271HP:0003271Visceromegaly0DZIP1L CL E G H19922126551ORPHA:731Autosomal recessive polycystic kidney disease4
HP:0003271HP:0003271Visceromegaly0DZIP1L CL E G H19922126551OMIM:617610Polycystic kidney disease 54
HP:0003271HP:0003271Visceromegaly0EARS2 CL E G H12445429419OMIM:614924Combined oxidative phosphorylation deficiency 1280
HP:0003271HP:0003271Visceromegaly0EFL1 CL E G H7963125789ORPHA:811Shwachman-Diamond syndrome1
HP:0003271HP:0003271Visceromegaly0EFL1 CL E G H7963125789OMIM:617941Shwachman-Diamond syndrome 21
HP:0003271HP:0003271Visceromegaly0EIF2AK3 CL E G H94513255OMIM:226980Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus65
HP:0003271HP:0003271Visceromegaly0EIF2AK3 CL E G H94513255ORPHA:1667Wolcott-Rallison syndrome65
HP:0003271HP:0003271Visceromegaly0EPB41 CL E G H20353377OMIM:611804Elliptocytosis 16
HP:0003271HP:0003271Visceromegaly0EPB41 CL E G H20353377ORPHA:288Hereditary elliptocytosis6
HP:0003271HP:0003271Visceromegaly0EPB42 CL E G H20383381ORPHA:822Hereditary spherocytosis51
HP:0003271HP:0003271Visceromegaly0EPB42 CL E G H20383381OMIM:612690SPHEROCYTOSIS, TYPE 5; SPH551
HP:0003271HP:0003271Visceromegaly0ERAP1 CL E G H5175218173ORPHA:117Behçet disease1
HP:0003271HP:0003271Visceromegaly0ERBB3 CL E G H20653431OMIM:133180Erythroleukemia, familial, susceptibility to12
HP:0003271HP:0003271Visceromegaly0ERCC1 CL E G H20673433ORPHA:90322Cockayne syndrome type 220
HP:0003271HP:0003271Visceromegaly0ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1158
HP:0003271HP:0003271Visceromegaly0ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1199
HP:0003271HP:0003271Visceromegaly0ERCC6 CL E G H20743438ORPHA:90322Cockayne syndrome type 2199
HP:0003271HP:0003271Visceromegaly0ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3199
HP:0003271HP:0003271Visceromegaly0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B199
HP:0003271HP:0003271Visceromegaly0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A55
HP:0003271HP:0003271Visceromegaly0ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 155
HP:0003271HP:0003271Visceromegaly0ERCC8 CL E G H11613439ORPHA:90322Cockayne syndrome type 255
HP:0003271HP:0003271Visceromegaly0ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 355
HP:0003271HP:0003271Visceromegaly0ETFA CL E G H21083481OMIM:231680Multiple acyl-coa dehydrogenase deficiency37
HP:0003271HP:0003271Visceromegaly0ETFB CL E G H21093482OMIM:231680Multiple acyl-coa dehydrogenase deficiency27
HP:0003271HP:0003271Visceromegaly0ETFDH CL E G H21103483OMIM:231680Multiple acyl-coa dehydrogenase deficiency77
HP:0003271HP:0003271Visceromegaly0EWSR1 CL E G H21303508ORPHA:83469Desmoplastic small round cell tumor
HP:0003271HP:0003271Visceromegaly0EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome3
HP:0003271HP:0003271Visceromegaly0F5 CL E G H21533542ORPHA:131Budd-Chiari syndrome159
HP:0003271HP:0003271Visceromegaly0FAH CL E G H21843579ORPHA:882Tyrosinemia type 1107
HP:0003271HP:0003271Visceromegaly0FAH CL E G H21843579OMIM:276700Tyrosinemia, type I107
HP:0003271HP:0003271Visceromegaly0FAM111B CL E G H37439324200OMIM:615704Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis6
HP:0003271HP:0003271Visceromegaly0FARSA CL E G H21933592OMIM:619013RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0003271HP:0003271Visceromegaly0FAS CL E G H35511920ORPHA:3261Autoimmune lymphoproliferative syndrome59
HP:0003271HP:0003271Visceromegaly0FAS CL E G H35511920OMIM:601859Autoimmune lymphoproliferative syndrome59
HP:0003271HP:0003271Visceromegaly0FAS CL E G H35511920ORPHA:117Behçet disease59
HP:0003271HP:0003271Visceromegaly0FASLG CL E G H35611936ORPHA:3261Autoimmune lymphoproliferative syndrome37
HP:0003271HP:0003271Visceromegaly0FASLG CL E G H35611936OMIM:601859Autoimmune lymphoproliferative syndrome37
HP:0003271HP:0003271Visceromegaly0FAT4 CL E G H7963323109ORPHA:2136Hennekam syndrome114
HP:0003271HP:0003271Visceromegaly0FBN1 CL E G H22003603OMIM:614185GELEOPHYSIC DYSPLASIA 2; GPHYSD21361
HP:0003271HP:0003271Visceromegaly0FBP1 CL E G H22033606ORPHA:348Fructose-1,6-bisphosphatase deficiency64
HP:0003271HP:0003271Visceromegaly0FBP1 CL E G H22033606OMIM:229700Fructose-1,6-Bisphosphatase deficiency64
HP:0003271HP:0003271Visceromegaly0FCGR2A CL E G H22123616OMIM:219700Cystic fibrosis6
HP:0003271HP:0003271Visceromegaly0FCHO1 CL E G H2314929002OMIM:619164IMMUNODEFICIENCY 76; IMD76
HP:0003271HP:0003271Visceromegaly0FDX2 CL E G H11281230546OMIM:251900Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
HP:0003271HP:0003271Visceromegaly0FERMT3 CL E G H8370623151OMIM:612840Leukocyte adhesion deficiency, type III23
HP:0003271HP:0003271Visceromegaly0FGA CL E G H22433661OMIM:105200Amyloidosis, familial visceral47
HP:0003271HP:0003271Visceromegaly0FGFR2 CL E G H22633689OMIM:614592Bent bone dysplasia syndrome175
HP:0003271HP:0003271Visceromegaly0FGFR2 CL E G H22633689ORPHA:313855FGFR2-related bent bone dysplasia175
HP:0003271HP:0003271Visceromegaly0FLNC CL E G H23183756ORPHA:75249Familial isolated restrictive cardiomyopathy197
HP:0003271HP:0003271Visceromegaly0FMO3 CL E G H23283771OMIM:602079Trimethylaminuria55
HP:0003271HP:0003271Visceromegaly0FOCAD CL E G H5491423377OMIM:6199913
HP:0003271HP:0003271Visceromegaly0FOS CL E G H23533796ORPHA:528Congenital generalized lipodystrophy
HP:0003271HP:0003271Visceromegaly0FOXP3 CL E G H509436106ORPHA:37042Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome32
HP:0003271HP:0003271Visceromegaly0FOXRED1 CL E G H5557226927ORPHA:2609Isolated complex I deficiency61
HP:0003271HP:0003271Visceromegaly0FUCA1 CL E G H25174006OMIM:230000FUCOSIDOSIS43
HP:0003271HP:0003271Visceromegaly0FUCA1 CL E G H25174006ORPHA:349Fucosidosis43
HP:0003271HP:0003271Visceromegaly0G6PC1 CL E G H25384056OMIM:232200Glycogen storage disease ia
HP:0003271HP:0003271Visceromegaly0G6PC3 CL E G H9257924861OMIM:612541Neutropenia, severe congenital, 4, autosomal recessive37
HP:0003271HP:0003271Visceromegaly0G6PD CL E G H25394057OMIM:300908Anemia, nonspherocytic hemolytic, due to g6pd deficiency101
HP:0003271HP:0003271Visceromegaly0GAA CL E G H25484065ORPHA:308552Glycogen storage disease due to acid maltase deficiency, infantile onset407
HP:0003271HP:0003271Visceromegaly0GAA CL E G H25484065OMIM:232300Glycogen storage disease II407
HP:0003271HP:0003271Visceromegaly0GALE CL E G H25824116OMIM:230350Galactose epimerase deficiency52
HP:0003271HP:0003271Visceromegaly0GALK1 CL E G H25844118ORPHA:79237Galactokinase deficiency23
HP:0003271HP:0003271Visceromegaly0GALM CL E G H13058924063ORPHA:570422Galactose mutarotase deficiency
HP:0003271HP:0003271Visceromegaly0GALNS CL E G H25884122OMIM:253000Morquio syndrome A123
HP:0003271HP:0003271Visceromegaly0GALT CL E G H25924135ORPHA:79239Classic galactosemia351
HP:0003271HP:0003271Visceromegaly0GALT CL E G H25924135OMIM:230400GALACTOSEMIA351
HP:0003271HP:0003271Visceromegaly0GATA1 CL E G H26234170ORPHA:231393Beta-thalassemia-X-linked thrombocytopenia syndrome29
HP:0003271HP:0003271Visceromegaly0GATA1 CL E G H26234170ORPHA:79277Congenital erythropoietic porphyria29
HP:0003271HP:0003271Visceromegaly0GATA1 CL E G H26234170OMIM:314050Thrombocytopenia with beta-thalassemia, X-linked29
HP:0003271HP:0003271Visceromegaly0GATA2 CL E G H26244171ORPHA:3226Deafness-lymphedema-leukemia syndrome137
HP:0003271HP:0003271Visceromegaly0GBA1 CL E G H26294177ORPHA:85212Fetal Gaucher disease
HP:0003271HP:0003271Visceromegaly0GBA1 CL E G H26294177ORPHA:77259Gaucher disease type 1
HP:0003271HP:0003271Visceromegaly0GBA1 CL E G H26294177ORPHA:77260Gaucher disease type 2
HP:0003271HP:0003271Visceromegaly0GBA1 CL E G H26294177ORPHA:77261Gaucher disease type 3
HP:0003271HP:0003271Visceromegaly0GBA1 CL E G H26294177OMIM:608013Gaucher disease, perinatal lethal
HP:0003271HP:0003271Visceromegaly0GBA1 CL E G H26294177OMIM:230800Gaucher disease, type I
HP:0003271HP:0003271Visceromegaly0GBA1 CL E G H26294177OMIM:230900Gaucher disease, type II
HP:0003271HP:0003271Visceromegaly0GBA1 CL E G H26294177OMIM:231000Gaucher disease, type III
HP:0003271HP:0003271Visceromegaly0GBA1 CL E G H26294177OMIM:231005Gaucher disease, type IIIC
HP:0003271HP:0003271Visceromegaly0GBA1 CL E G H26294177ORPHA:2072Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0003271HP:0003271Visceromegaly0GBE1 CL E G H26324180OMIM:232500Glycogen storage disease IV86
HP:0003271HP:0003271Visceromegaly0GCDH CL E G H26394189OMIM:231670Glutaric acidemia I115
HP:0003271HP:0003271Visceromegaly0GCLC CL E G H27294311ORPHA:33574Glutamate-cysteine ligase deficiency2
HP:0003271HP:0003271Visceromegaly0GEMIN4 CL E G H5062815717OMIM:617913Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities1
HP:0003271HP:0003271Visceromegaly0GFM1 CL E G H8547613780OMIM:609060Combined oxidative phosphorylation deficiency 185
HP:0003271HP:0003271Visceromegaly0GIMAP5 CL E G H5534018005OMIM:619463PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0003271HP:0003271Visceromegaly0GLB1 CL E G H27204298ORPHA:79255GM1 gangliosidosis type 1120
HP:0003271HP:0003271Visceromegaly0GLB1 CL E G H27204298OMIM:230500GM1-gangliosidosis, type I120
HP:0003271HP:0003271Visceromegaly0GLB1 CL E G H27204298OMIM:230600Gm1-gangliosidosis, type II120
HP:0003271HP:0003271Visceromegaly0GLB1 CL E G H27204298OMIM:253010Mucopolysaccharidosis type IVB (Morquio)120
HP:0003271HP:0003271Visceromegaly0GLIS3 CL E G H16979228510OMIM:610199Diabetes mellitus, neonatal, with congenital hypothyroidism143
HP:0003271HP:0003271Visceromegaly0GLRX5 CL E G H5121820134OMIM:616860Anemia, sideroblastic, 3, pyridoxine-refractory17
HP:0003271HP:0003271Visceromegaly0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0003271HP:0003271Visceromegaly0GNE CL E G H1002023657ORPHA:3166Sialuria173
HP:0003271HP:0003271Visceromegaly0GNE CL E G H1002023657OMIM:269921SIALURIA173
HP:0003271HP:0003271Visceromegaly0GNMT CL E G H272324415OMIM:606664GLYCINE N-METHYLTRANSFERASE DEFICIENCY3
HP:0003271HP:0003271Visceromegaly0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta240
HP:0003271HP:0003271Visceromegaly0GNPTAB CL E G H7915829670ORPHA:576Mucolipidosis type II240
HP:0003271HP:0003271Visceromegaly0GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID69
HP:0003271HP:0003271Visceromegaly0GP1BA CL E G H28114439OMIM:153670Bernard-Soulier syndrome, type A2, autosomal dominant23
HP:0003271HP:0003271Visceromegaly0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndrome8
HP:0003271HP:0003271Visceromegaly0GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndrome73
HP:0003271HP:0003271Visceromegaly0GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0003271HP:0003271Visceromegaly0GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndrome
HP:0003271HP:0003271Visceromegaly0GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0003271HP:0003271Visceromegaly0GPD1 CL E G H28194455OMIM:614480Hypertriglyceridemia, transient infantile3
HP:0003271HP:0003271Visceromegaly0GPI CL E G H28214458OMIM:613470Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency12
HP:0003271HP:0003271Visceromegaly0GPIHBP1 CL E G H33832824945OMIM:615947Hyperlipoproteinemia, type ID12
HP:0003271HP:0003271Visceromegaly0GPR35 CL E G H28594492ORPHA:171Primary sclerosing cholangitis2
HP:0003271HP:0003271Visceromegaly0GUCY2D CL E G H30004689OMIM:204000Leber congenital amaurosis, type I124
HP:0003271HP:0003271Visceromegaly0GUSB CL E G H29904696ORPHA:584Mucopolysaccharidosis type 754
HP:0003271HP:0003271Visceromegaly0GUSB CL E G H29904696OMIM:253220Mucopolysaccharidosis, type VII54
HP:0003271HP:0003271Visceromegaly0GYPC CL E G H29954704ORPHA:288Hereditary elliptocytosis5
HP:0003271HP:0003271Visceromegaly0H19-ICR CL E G H105259599OMIM:130650Beckwith-Wiedemann syndrome
HP:0003271HP:0003271Visceromegaly0HADHA CL E G H30304801ORPHA:5Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency99
HP:0003271HP:0003271Visceromegaly0HADHA CL E G H30304801OMIM:609016Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency99
HP:0003271HP:0003271Visceromegaly0HAMP CL E G H5781715598OMIM:613313Hemochromatosis, type 2B15
HP:0003271HP:0003271Visceromegaly0HAVCR2 CL E G H8486818437ORPHA:86884Subcutaneous panniculitis-like T-cell lymphoma
HP:0003271HP:0003271Visceromegaly0HAVCR2 CL E G H8486818437OMIM:618398T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE
HP:0003271HP:0003271Visceromegaly0HBA1 CL E G H30394823ORPHA:163596Hb Bart's hydrops fetalis200
HP:0003271HP:0003271Visceromegaly0HBA1 CL E G H30394823OMIM:613978Hemoglobin H disease200
HP:0003271HP:0003271Visceromegaly0HBA2 CL E G H30404824ORPHA:163596Hb Bart's hydrops fetalis88
HP:0003271HP:0003271Visceromegaly0HBA2 CL E G H30404824OMIM:613978Hemoglobin H disease88
HP:0003271HP:0003271Visceromegaly0HBB CL E G H30434827ORPHA:231222Beta-thalassemia intermedia580
HP:0003271HP:0003271Visceromegaly0HBB CL E G H30434827ORPHA:231214Beta-thalassemia major580
HP:0003271HP:0003271Visceromegaly0HBB CL E G H30434827OMIM:603902BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE580
HP:0003271HP:0003271Visceromegaly0HBB CL E G H30434827ORPHA:231226Dominant beta-thalassemia580
HP:0003271HP:0003271Visceromegaly0HBB CL E G H30434827ORPHA:231242Hemoglobin C-beta-thalassemia syndrome580
HP:0003271HP:0003271Visceromegaly0HBB CL E G H30434827ORPHA:90039Hemoglobin D disease580
HP:0003271HP:0003271Visceromegaly0HBB CL E G H30434827ORPHA:2133Hemoglobin E disease580
HP:0003271HP:0003271Visceromegaly0HBB CL E G H30434827ORPHA:46532Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome580
HP:0003271HP:0003271Visceromegaly0HBB CL E G H30434827ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome580
HP:0003271HP:0003271Visceromegaly0HBB CL E G H30434827OMIM:603903Sickle cell anemia580
HP:0003271HP:0003271Visceromegaly0HBG1 CL E G H30474831ORPHA:46532Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome35
HP:0003271HP:0003271Visceromegaly0HBG1 CL E G H30474831ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome35
HP:0003271HP:0003271Visceromegaly0HBG2 CL E G H30484832OMIM:613977Cyanosis, transient neonatal50
HP:0003271HP:0003271Visceromegaly0HBG2 CL E G H30484832ORPHA:46532Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome50
HP:0003271HP:0003271Visceromegaly0HBG2 CL E G H30484832ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome50
HP:0003271HP:0003271Visceromegaly0HEXB CL E G H30744879OMIM:268800Sandhoff disease80
HP:0003271HP:0003271Visceromegaly0HEXB CL E G H30744879ORPHA:309155Sandhoff disease, infantile form80
HP:0003271HP:0003271Visceromegaly0HFE CL E G H30774886OMIM:235200Hemochromatosis, type 138
HP:0003271HP:0003271Visceromegaly0HFE CL E G H30774886ORPHA:465508Symptomatic form of hemochromatosis type 138
HP:0003271HP:0003271Visceromegaly0HGSNAT CL E G H13805026527OMIM:252930Mucopolysaccharidosis type IIIC86
HP:0003271HP:0003271Visceromegaly0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndrome3
HP:0003271HP:0003271Visceromegaly0HJV CL E G H1487384887OMIM:602390Hemochromatosis, type 2A
HP:0003271HP:0003271Visceromegaly0HK1 CL E G H30984922OMIM:235700Hemolytic anemia, nonspherocytic, due to hexokinase deficiency11
HP:0003271HP:0003271Visceromegaly0HLA-B CL E G H31064932ORPHA:117Behçet disease4
HP:0003271HP:0003271Visceromegaly0HLA-DRB1 CL E G H31234948ORPHA:545Follicular lymphoma2
HP:0003271HP:0003271Visceromegaly0HLA-DRB1 CL E G H31234948ORPHA:797Sarcoidosis2
HP:0003271HP:0003271Visceromegaly0HLA-DRB1 CL E G H31234948OMIM:181000Sarcoidosis, susceptibility to, 12
HP:0003271HP:0003271Visceromegaly0HLA-DRB1 CL E G H31234948ORPHA:85414Systemic-onset juvenile idiopathic arthritis2
HP:0003271HP:0003271Visceromegaly0HMGCL CL E G H31555005ORPHA:203-hydroxy-3-methylglutaric aciduria35
HP:0003271HP:0003271Visceromegaly0HMGCL CL E G H31555005OMIM:2464503-Hydroxy-3-Methylglutaryl-Coa lyase deficiency35
HP:0003271HP:0003271Visceromegaly0HMGCS2 CL E G H31585008OMIM:6059113-Hydroxy-3-Methylglutaryl-Coa synthase-2 deficiency42
HP:0003271HP:0003271Visceromegaly0HMOX1 CL E G H31625013OMIM:614034HEME OXYGENASE 1 DEFICIENCY; HMOX1D3
HP:0003271HP:0003271Visceromegaly0HNF1A CL E G H692711621ORPHA:324575Hyperinsulinism due to HNF1A deficiency161
HP:0003271HP:0003271Visceromegaly0HNF4A CL E G H31725024OMIM:616026Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young138
HP:0003271HP:0003271Visceromegaly0HNF4A CL E G H31725024ORPHA:263455Hyperinsulinism due to HNF4A deficiency138
HP:0003271HP:0003271Visceromegaly0HPGD CL E G H32485154ORPHA:2796Pachydermoperiostosis55
HP:0003271HP:0003271Visceromegaly0HSD17B4 CL E G H32955213OMIM:261515D-bifunctional protein deficiency98
HP:0003271HP:0003271Visceromegaly0HSD3B7 CL E G H8027018324OMIM:607765Bile acid synthesis defect, congenital, 126
HP:0003271HP:0003271Visceromegaly0HSD3B7 CL E G H8027018324ORPHA:79301Congenital bile acid synthesis defect type 126
HP:0003271HP:0003271Visceromegaly0HYMAI CL E G H570615326ORPHA:96191Paternal uniparental disomy of chromosome 6
HP:0003271HP:0003271Visceromegaly0HYOU1 CL E G H1052516931OMIM:233600Immunodeficiency 59 and hypoglycemia
HP:0003271HP:0003271Visceromegaly0IARS1 CL E G H33765330ORPHA:541423Growth delay-intellectual disability-hepatopathy syndrome
HP:0003271HP:0003271Visceromegaly0ICOS CL E G H298515351ORPHA:1572Common variable immunodeficiency32
HP:0003271HP:0003271Visceromegaly0ICOS CL E G H298515351OMIM:607594Immunodeficiency, common variable, 132
HP:0003271HP:0003271Visceromegaly0ICOS CL E G H298515351OMIM:240500Immunodeficiency, common variable, 232
HP:0003271HP:0003271Visceromegaly0IDS CL E G H34235389ORPHA:217093Mucopolysaccharidosis type 2, attenuated form86
HP:0003271HP:0003271Visceromegaly0IDS CL E G H34235389ORPHA:217085Mucopolysaccharidosis type 2, severe form86
HP:0003271HP:0003271Visceromegaly0IDS CL E G H34235389OMIM:309900Mucopolysaccharidosis, type II86
HP:0003271HP:0003271Visceromegaly0IDUA CL E G H34255391OMIM:607014Hurler syndrome115
HP:0003271HP:0003271Visceromegaly0IDUA CL E G H34255391ORPHA:93473Hurler syndrome115
HP:0003271HP:0003271Visceromegaly0IDUA CL E G H34255391ORPHA:93476Hurler-Scheie syndrome115
HP:0003271HP:0003271Visceromegaly0IDUA CL E G H34255391OMIM:607015Hurler-Scheie syndrome115
HP:0003271HP:0003271Visceromegaly0IDUA CL E G H34255391ORPHA:93474Scheie syndrome115
HP:0003271HP:0003271Visceromegaly0IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndrome28
HP:0003271HP:0003271Visceromegaly0IFIH1 CL E G H6413518873OMIM:615846Aicardi-Goutieres syndrome 728
HP:0003271HP:0003271Visceromegaly0IFNG CL E G H34585438OMIM:618963IMMUNODEFICIENCY 69; IMD6923
HP:0003271HP:0003271Visceromegaly0IFNGR1 CL E G H34595439ORPHA:117Behçet disease60
HP:0003271HP:0003271Visceromegaly0IFNGR1 CL E G H34595439OMIM:209950Immunodeficiency 27A, mycobacteriosis, AR60
HP:0003271HP:0003271Visceromegaly0IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia93
HP:0003271HP:0003271Visceromegaly0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0003271HP:0003271Visceromegaly0IFT172 CL E G H2616030391OMIM:615630Short-Rib thoracic dysplasia 10 with or without polydactyly48
HP:0003271HP:0003271Visceromegaly0IGF2 CL E G H34815466OMIM:130650Beckwith-Wiedemann syndrome9
HP:0003271HP:0003271Visceromegaly0IGH CL E G H34925477ORPHA:545Follicular lymphoma7
HP:0003271HP:0003271Visceromegaly0IGH CL E G H34925477ORPHA:52416Mantle cell lymphoma7
HP:0003271HP:0003271Visceromegaly0IKBKG CL E G H85175961OMIM:30108152
HP:0003271HP:0003271Visceromegaly0IKZF3 CL E G H2280613178OMIM:619437IMMUNODEFICIENCY 84; IMD84
HP:0003271HP:0003271Visceromegaly0IL10 CL E G H35865962ORPHA:117Behçet disease2
HP:0003271HP:0003271Visceromegaly0IL12A CL E G H35925969ORPHA:117Behçet disease
HP:0003271HP:0003271Visceromegaly0IL12A-AS1 CL E G H10192837649094ORPHA:117Behçet disease
HP:0003271HP:0003271Visceromegaly0IL18BP CL E G H100685987OMIM:618549HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH
HP:0003271HP:0003271Visceromegaly0IL1RN CL E G H35576000OMIM:612852Interleukin 1 receptor antagonist deficiency40
HP:0003271HP:0003271Visceromegaly0IL23R CL E G H14923319100ORPHA:117Behçet disease1
HP:0003271HP:0003271Visceromegaly0IL2RA CL E G H35596008OMIM:606367IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD4165
HP:0003271HP:0003271Visceromegaly0IL2RA CL E G H35596008ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis65
HP:0003271HP:0003271Visceromegaly0IL2RB CL E G H35606009OMIM:618495Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0003271HP:0003271Visceromegaly0IL2RB CL E G H35606009ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0003271HP:0003271Visceromegaly0IL2RG CL E G H35616010ORPHA:39041Omenn syndrome48
HP:0003271HP:0003271Visceromegaly0IL2RG CL E G H35616010OMIM:300400Severe combined immunodeficiency, X-linked48
HP:0003271HP:0003271Visceromegaly0IL2RG CL E G H35616010ORPHA:276T-B+ severe combined immunodeficiency due to gamma chain deficiency48
HP:0003271HP:0003271Visceromegaly0IL6 CL E G H35696018ORPHA:85414Systemic-onset juvenile idiopathic arthritis2
HP:0003271HP:0003271Visceromegaly0IL6ST CL E G H35726021OMIM:619750IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0003271HP:0003271Visceromegaly0IL7R CL E G H35756024ORPHA:39041Omenn syndrome94
HP:0003271HP:0003271Visceromegaly0IL7R CL E G H35756024OMIM:608971Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive94
HP:0003271HP:0003271Visceromegaly0IL7R CL E G H35756024ORPHA:169154T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency94
HP:0003271HP:0003271Visceromegaly0INPP5E CL E G H5662321474ORPHA:1454Joubert syndrome with hepatic defect111
HP:0003271HP:0003271Visceromegaly0INPPL1 CL E G H36366080ORPHA:2746Opsismodysplasia18
HP:0003271HP:0003271Visceromegaly0INSR CL E G H36436091ORPHA:508Leprechaunism229
HP:0003271HP:0003271Visceromegaly0IRF2BP2 CL E G H35994821729ORPHA:1572Common variable immunodeficiency4
HP:0003271HP:0003271Visceromegaly0IRF4 CL E G H36626119ORPHA:3452Whipple disease1
HP:0003271HP:0003271Visceromegaly0IRF8 CL E G H33945358OMIM:226990Immunodeficiency 32B5
HP:0003271HP:0003271Visceromegaly0ITCH CL E G H8373713890OMIM:613385AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD3
HP:0003271HP:0003271Visceromegaly0ITCH CL E G H8373713890ORPHA:228426Syndromic multisystem autoimmune disease due to Itch deficiency3
HP:0003271HP:0003271Visceromegaly0ITK CL E G H37026171OMIM:613011LYMPHOPROLIFERATIVE SYNDROME 1; LPFS151
HP:0003271HP:0003271Visceromegaly0JAK1 CL E G H37166190OMIM:618999AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE12
HP:0003271HP:0003271Visceromegaly0JAK2 CL E G H37176192ORPHA:131Budd-Chiari syndrome57
HP:0003271HP:0003271Visceromegaly0JAK2 CL E G H37176192OMIM:133100Erythrocytosis, familial, 157
HP:0003271HP:0003271Visceromegaly0JAK2 CL E G H37176192ORPHA:3318Essential thrombocythemia57
HP:0003271HP:0003271Visceromegaly0JAK2 CL E G H37176192ORPHA:71493Familial thrombocytosis57
HP:0003271HP:0003271Visceromegaly0JAK2 CL E G H37176192OMIM:254450Myelofibrosismyelofibrosis with myeloid metaplasia, included57
HP:0003271HP:0003271Visceromegaly0JAK2 CL E G H37176192ORPHA:729Polycythemia vera57
HP:0003271HP:0003271Visceromegaly0JAK2 CL E G H37176192OMIM:263300Polycythemia vera57
HP:0003271HP:0003271Visceromegaly0JAK2 CL E G H37176192ORPHA:824Primary myelofibrosis57
HP:0003271HP:0003271Visceromegaly0JAK3 CL E G H37186193ORPHA:35078T-B+ severe combined immunodeficiency due to JAK3 deficiency140
HP:0003271HP:0003271Visceromegaly0JAM2 CL E G H5849414686ORPHA:1980Bilateral striopallidodentate calcinosis
HP:0003271HP:0003271Visceromegaly0JAM3 CL E G H8370015532OMIM:613730Hemorrhagic destruction of the brain, subependymal calcification,and cataracts4
HP:0003271HP:0003271Visceromegaly0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndrome2
HP:0003271HP:0003271Visceromegaly0KCNH1 CL E G H37566250ORPHA:3473Zimmermann-Laband syndrome13
HP:0003271HP:0003271Visceromegaly0KCNH1 CL E G H37566250OMIM:135500Zimmermann-Laband syndrome 113
HP:0003271HP:0003271Visceromegaly0KCNJ11 CL E G H37676257ORPHA:276580Autosomal dominant hyperinsulinism due to Kir6.2 deficiency127
HP:0003271HP:0003271Visceromegaly0KCNN3 CL E G H37826292ORPHA:3473Zimmermann-Laband syndrome7
HP:0003271HP:0003271Visceromegaly0KCNN4 CL E G H37836293ORPHA:3202Dehydrated hereditary stomatocytosis3
HP:0003271HP:0003271Visceromegaly0KCNN4 CL E G H37836293OMIM:616689Dehydrated hereditary stomatocytosis 23
HP:0003271HP:0003271Visceromegaly0KCNQ1 CL E G H37846294OMIM:130650Beckwith-Wiedemann syndrome730
HP:0003271HP:0003271Visceromegaly0KCNQ1OT1 CL E G H109846295OMIM:130650Beckwith-Wiedemann syndrome1
HP:0003271HP:0003271Visceromegaly0KIF12 CL E G H11322021495OMIM:619662CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC81
HP:0003271HP:0003271Visceromegaly0KIF20A CL E G H101129787OMIM:619433CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6; RCM6
HP:0003271HP:0003271Visceromegaly0KIF20A CL E G H101129787ORPHA:75249Familial isolated restrictive cardiomyopathy
HP:0003271HP:0003271Visceromegaly0KIF3B CL E G H93716320OMIM:618955RETINITIS PIGMENTOSA 89; RP89
HP:0003271HP:0003271Visceromegaly0KIT CL E G H38156342ORPHA:98849Systemic mastocytosis with associated hematologic neoplasm327
HP:0003271HP:0003271Visceromegaly0KLF1 CL E G H106616345OMIM:613673Anemia, dyserythropoietic congenital, type IV42
HP:0003271HP:0003271Visceromegaly0KLF1 CL E G H106616345ORPHA:46532Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome42
HP:0003271HP:0003271Visceromegaly0KLF1 CL E G H106616345ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome42
HP:0003271HP:0003271Visceromegaly0KLRC4 CL E G H83026377ORPHA:117Behçet disease
HP:0003271HP:0003271Visceromegaly0KPTN CL E G H111336404ORPHA:397612Macrocephaly-developmental delay syndrome13
HP:0003271HP:0003271Visceromegaly0KPTN CL E G H111336404OMIM:615637Mental retardation, autosomal recessive 4113
HP:0003271HP:0003271Visceromegaly0KRAS CL E G H38456407ORPHA:1333Familial pancreatic carcinoma196
HP:0003271HP:0003271Visceromegaly0KRAS CL E G H38456407ORPHA:648Noonan syndrome196
HP:0003271HP:0003271Visceromegaly0KRAS CL E G H38456407OMIM:614470RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic196
HP:0003271HP:0003271Visceromegaly0LACC1 CL E G H14481126789ORPHA:85414Systemic-onset juvenile idiopathic arthritis1
HP:0003271HP:0003271Visceromegaly0LAMA5 CL E G H39116485OMIM:6200765
HP:0003271HP:0003271Visceromegaly0LARS1 CL E G H515206512OMIM:615438Infantile liver failure syndrome 1
HP:0003271HP:0003271Visceromegaly0LAT CL E G H2704018874OMIM:617514Immunodeficiency 522
HP:0003271HP:0003271Visceromegaly0LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0003271HP:0003271Visceromegaly0LBR CL E G H39306518ORPHA:779Reynolds syndrome70
HP:0003271HP:0003271Visceromegaly0LBR CL E G H39306518OMIM:613471Reynolds syndrome70
HP:0003271HP:0003271Visceromegaly0LCAT CL E G H39316522ORPHA:79292Fish-eye disease26
HP:0003271HP:0003271Visceromegaly0LIG4 CL E G H39816601ORPHA:99812LIG4 syndrome88
HP:0003271HP:0003271Visceromegaly0LIG4 CL E G H39816601ORPHA:39041Omenn syndrome88
HP:0003271HP:0003271Visceromegaly0LIPA CL E G H39886617ORPHA:75234Cholesteryl ester storage disease73
HP:0003271HP:0003271Visceromegaly0LIPA CL E G H39886617OMIM:278000Lysosomal acid lipase deficiency73
HP:0003271HP:0003271Visceromegaly0LIPA CL E G H39886617ORPHA:75233Wolman disease73
HP:0003271HP:0003271Visceromegaly0LIPE CL E G H39916621ORPHA:435660LIPE-related familial partial lipodystrophy7
HP:0003271HP:0003271Visceromegaly0LMBRD1 CL E G H5578823038OMIM:277380Methylmalonic aciduria and homocystinuria, Cblf type46
HP:0003271HP:0003271Visceromegaly0LMNA CL E G H40006636ORPHA:280365Autosomal semi-dominant severe lipodystrophic laminopathy645
HP:0003271HP:0003271Visceromegaly0LMNA CL E G H40006636ORPHA:2348Familial partial lipodystrophy, Dunnigan type645
HP:0003271HP:0003271Visceromegaly0LMNA CL E G H40006636ORPHA:79084Familial partial lipodystrophy, Köbberling type645
HP:0003271HP:0003271Visceromegaly0LMNA CL E G H40006636OMIM:151660Lipodystrophy, familial partial, type 2645
HP:0003271HP:0003271Visceromegaly0LMNA CL E G H40006636OMIM:248370Mandibuloacral dysplasia645
HP:0003271HP:0003271Visceromegaly0LPIN2 CL E G H966314450ORPHA:77297Majeed syndrome186
HP:0003271HP:0003271Visceromegaly0LPIN2 CL E G H966314450OMIM:609628MAJEED SYNDROME; MJDS186
HP:0003271HP:0003271Visceromegaly0LPL CL E G H40236677OMIM:238600Type I hyperlipoproteinemia106
HP:0003271HP:0003271Visceromegaly0LRBA CL E G H9871742OMIM:614700IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID845
HP:0003271HP:0003271Visceromegaly0LRP5 CL E G H40416697ORPHA:2924Isolated polycystic liver disease125
HP:0003271HP:0003271Visceromegaly0LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndrome
HP:0003271HP:0003271Visceromegaly0LTBP3 CL E G H40546716OMIM:617809Geleophysic dysplasia 312
HP:0003271HP:0003271Visceromegaly0LYRM4 CL E G H5712821365OMIM:615595Combined oxidative phosphorylation deficiency 194
HP:0003271HP:0003271Visceromegaly0LYST CL E G H11301968ORPHA:167Chédiak-Higashi syndrome239
HP:0003271HP:0003271Visceromegaly0LYST CL E G H11301968OMIM:214500Chediak-Higashi syndrome239
HP:0003271HP:0003271Visceromegaly0LYZ CL E G H40696740OMIM:105200Amyloidosis, familial visceral32
HP:0003271HP:0003271Visceromegaly0LZTR1 CL E G H82166742ORPHA:648Noonan syndrome43
HP:0003271HP:0003271Visceromegaly0MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0003271HP:0003271Visceromegaly0MADD CL E G H85676766OMIM:619005NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH5
HP:0003271HP:0003271Visceromegaly0MAGT1 CL E G H8406128880OMIM:301031CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc; CDG1CC17
HP:0003271HP:0003271Visceromegaly0MAGT1 CL E G H8406128880OMIM:300853IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN17
HP:0003271HP:0003271Visceromegaly0MAN2B1 CL E G H41256826OMIM:248500Alpha-mannosidosis136
HP:0003271HP:0003271Visceromegaly0MAN2B1 CL E G H41256826ORPHA:309288Alpha-mannosidosis, adult form136
HP:0003271HP:0003271Visceromegaly0MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile form136
HP:0003271HP:0003271Visceromegaly0MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities
HP:0003271HP:0003271Visceromegaly0MARS1 CL E G H41416898OMIM:615486Interstitial lung and liver disease
HP:0003271HP:0003271Visceromegaly0MCM4 CL E G H41736947OMIM:609981Immunodeficiency 5469
HP:0003271HP:0003271Visceromegaly0MED12 CL E G H996811957OMIM:301068HARDIKAR SYNDROME; HDKR228
HP:0003271HP:0003271Visceromegaly0MEFV CL E G H42106998ORPHA:117Behçet disease281
HP:0003271HP:0003271Visceromegaly0MEFV CL E G H42106998ORPHA:342Familial Mediterranean fever281
HP:0003271HP:0003271Visceromegaly0MEFV CL E G H42106998OMIM:249100Familial Mediterranean fever, AR281
HP:0003271HP:0003271Visceromegaly0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0003271HP:0003271Visceromegaly0MET CL E G H42337029ORPHA:33402Pediatric hepatocellular carcinoma375
HP:0003271HP:0003271Visceromegaly0MFN2 CL E G H992716877ORPHA:2398Multiple symmetric lipomatosis203
HP:0003271HP:0003271Visceromegaly0MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0003271HP:0003271Visceromegaly0MIF CL E G H42827097ORPHA:85414Systemic-onset juvenile idiopathic arthritis1
HP:0003271HP:0003271Visceromegaly0MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1127
HP:0003271HP:0003271Visceromegaly0MMAA CL E G H16678518871OMIM:251100Methylmalonic aciduria, Cbla type113
HP:0003271HP:0003271Visceromegaly0MMAB CL E G H32662519331OMIM:251110Methylmalonic aciduria, Cblb type127
HP:0003271HP:0003271Visceromegaly0MMUT CL E G H45947526OMIM:251000Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0003271HP:0003271Visceromegaly0MMUT CL E G H45947526ORPHA:79312Vitamin B12-unresponsive methylmalonic acidemia type mut-
HP:0003271HP:0003271Visceromegaly0MMUT CL E G H45947526ORPHA:289916Vitamin B12-unresponsive methylmalonic acidemia type mut0
HP:0003271HP:0003271Visceromegaly0MOGS CL E G H784124862OMIM:606056Congenital disorder of glycosylation, type IIB37
HP:0003271HP:0003271Visceromegaly0MOGS CL E G H784124862ORPHA:79330MOGS-CDG37
HP:0003271HP:0003271Visceromegaly0MPC1 CL E G H5166021606OMIM:614741Mitochondrial pyruvate carrier deficiency6
HP:0003271HP:0003271Visceromegaly0MPI CL E G H43517216OMIM:602579Congenital disorder of glycosylation, type Ib51
HP:0003271HP:0003271Visceromegaly0MPI CL E G H43517216ORPHA:79319MPI-CDG51
HP:0003271HP:0003271Visceromegaly0MPIG6B CL E G H8073913937OMIM:617441Thrombocytopenia, anemia, and myelofibrosis1
HP:0003271HP:0003271Visceromegaly0MPL CL E G H43527217ORPHA:3318Essential thrombocythemia97
HP:0003271HP:0003271Visceromegaly0MPL CL E G H43527217ORPHA:71493Familial thrombocytosis97
HP:0003271HP:0003271Visceromegaly0MPL CL E G H43527217OMIM:254450Myelofibrosismyelofibrosis with myeloid metaplasia, included97
HP:0003271HP:0003271Visceromegaly0MPL CL E G H43527217ORPHA:729Polycythemia vera97
HP:0003271HP:0003271Visceromegaly0MPL CL E G H43527217ORPHA:824Primary myelofibrosis97
HP:0003271HP:0003271Visceromegaly0MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy56
HP:0003271HP:0003271Visceromegaly0MRAS CL E G H228087227ORPHA:648Noonan syndrome
HP:0003271HP:0003271Visceromegaly0MRPL3 CL E G H1122210379OMIM:614582COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD913
HP:0003271HP:0003271Visceromegaly0MRPS28 CL E G H2895714513OMIM:618958COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0003271HP:0003271Visceromegaly0MRPS7 CL E G H5108114499OMIM:617872Combined oxidative phosphorylation deficiency 3412
HP:0003271HP:0003271Visceromegaly0MS4A1 CL E G H9317315ORPHA:1572Common variable immunodeficiency1
HP:0003271HP:0003271Visceromegaly0MST1 CL E G H44857380ORPHA:171Primary sclerosing cholangitis1
HP:0003271HP:0003271Visceromegaly0MTTP CL E G H45477467ORPHA:14Abetalipoproteinemia81
HP:0003271HP:0003271Visceromegaly0MTX2 CL E G H106517506OMIM:619127MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0003271HP:0003271Visceromegaly0MVK CL E G H45987530OMIM:260920Hyper-Igd syndrome150
HP:0003271HP:0003271Visceromegaly0MVK CL E G H45987530ORPHA:343Hyperimmunoglobulinemia D with periodic fever150
HP:0003271HP:0003271Visceromegaly0MVK CL E G H45987530ORPHA:29Mevalonic aciduria150
HP:0003271HP:0003271Visceromegaly0MVK CL E G H45987530OMIM:610377Mevalonic aciduria150
HP:0003271HP:0003271Visceromegaly0MYBPC3 CL E G H46077551OMIM:115197Cardiomyopathy, familial hypertrophic, 41143
HP:0003271HP:0003271Visceromegaly0MYD88 CL E G H46157562ORPHA:33226Waldenström macroglobulinemia9
HP:0003271HP:0003271Visceromegaly0MYL2 CL E G H46337583OMIM:619424MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12131
HP:0003271HP:0003271Visceromegaly0MYO5B CL E G H46457603OMIM:619868192
HP:0003271HP:0003271Visceromegaly0MYORG CL E G H5746219918ORPHA:1980Bilateral striopallidodentate calcinosis
HP:0003271HP:0003271Visceromegaly0MYPN CL E G H8466523246ORPHA:75249Familial isolated restrictive cardiomyopathy217
HP:0003271HP:0003271Visceromegaly0NAGA CL E G H46687631ORPHA:79279Alpha-N-acetylgalactosaminidase deficiency type 147
HP:0003271HP:0003271Visceromegaly0NAGA CL E G H46687631ORPHA:79281Alpha-N-acetylgalactosaminidase deficiency type 347
HP:0003271HP:0003271Visceromegaly0NAGLU CL E G H46697632OMIM:252920Mucopolysaccharidosis type IIIB72
HP:0003271HP:0003271Visceromegaly0NAGS CL E G H16241717996ORPHA:927Hyperammonemia due to N-acetylglutamate synthase deficiency36
HP:0003271HP:0003271Visceromegaly0NBEAL2 CL E G H2321831928OMIM:139090Gray platelet syndrome127
HP:0003271HP:0003271Visceromegaly0NBEAL2 CL E G H2321831928ORPHA:721Gray platelet syndrome127
HP:0003271HP:0003271Visceromegaly0NCF1 CL E G H6533617660ORPHA:379Chronic granulomatous disease13
HP:0003271HP:0003271Visceromegaly0NCF1 CL E G H6533617660OMIM:233700Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I13
HP:0003271HP:0003271Visceromegaly0NCF2 CL E G H46887661ORPHA:379Chronic granulomatous disease67
HP:0003271HP:0003271Visceromegaly0NCF2 CL E G H46887661OMIM:233710Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II67
HP:0003271HP:0003271Visceromegaly0NCF4 CL E G H46897662ORPHA:379Chronic granulomatous disease37
HP:0003271HP:0003271Visceromegaly0NCKAP1L CL E G H30714862OMIM:618982IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0003271HP:0003271Visceromegaly0ND1 CL E G H45357455ORPHA:2609Isolated complex I deficiency
HP:0003271HP:0003271Visceromegaly0ND1 CL E G H45357455ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0003271HP:0003271Visceromegaly0ND2 CL E G H45367456ORPHA:2609Isolated complex I deficiency
HP:0003271HP:0003271Visceromegaly0ND2 CL E G H45367456ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0003271HP:0003271Visceromegaly0ND3 CL E G H45377458ORPHA:2609Isolated complex I deficiency
HP:0003271HP:0003271Visceromegaly0ND3 CL E G H45377458ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0003271HP:0003271Visceromegaly0ND4 CL E G H45387459ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0003271HP:0003271Visceromegaly0ND5 CL E G H45407461ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0003271HP:0003271Visceromegaly0ND6 CL E G H45417462ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0003271HP:0003271Visceromegaly0NDUFA1 CL E G H46947683ORPHA:2609Isolated complex I deficiency7
HP:0003271HP:0003271Visceromegaly0NDUFA11 CL E G H12632820371ORPHA:2609Isolated complex I deficiency32
HP:0003271HP:0003271Visceromegaly0NDUFA6 CL E G H47007690ORPHA:2609Isolated complex I deficiency1
HP:0003271HP:0003271Visceromegaly0NDUFAF1 CL E G H5110318828ORPHA:2609Isolated complex I deficiency40
HP:0003271HP:0003271Visceromegaly0NDUFAF1 CL E G H5110318828OMIM:618234Mitochondrial complex I deficiency, nuclear type 1140
HP:0003271HP:0003271Visceromegaly0NDUFAF2 CL E G H9194228086ORPHA:2609Isolated complex I deficiency26
HP:0003271HP:0003271Visceromegaly0NDUFAF3 CL E G H2591529918ORPHA:2609Isolated complex I deficiency31
HP:0003271HP:0003271Visceromegaly0NDUFAF4 CL E G H2907821034ORPHA:2609Isolated complex I deficiency50
HP:0003271HP:0003271Visceromegaly0NDUFAF5 CL E G H7913315899ORPHA:2609Isolated complex I deficiency34
HP:0003271HP:0003271Visceromegaly0NDUFAF8 CL E G H28418433551ORPHA:2609Isolated complex I deficiency
HP:0003271HP:0003271Visceromegaly0NDUFB10 CL E G H47167696ORPHA:2609Isolated complex I deficiency
HP:0003271HP:0003271Visceromegaly0NDUFB11 CL E G H5453920372ORPHA:2609Isolated complex I deficiency3
HP:0003271HP:0003271Visceromegaly0NDUFB3 CL E G H47097698ORPHA:2609Isolated complex I deficiency9
HP:0003271HP:0003271Visceromegaly0NDUFB9 CL E G H47157704ORPHA:2609Isolated complex I deficiency16
HP:0003271HP:0003271Visceromegaly0NDUFS1 CL E G H47197707ORPHA:2609Isolated complex I deficiency81
HP:0003271HP:0003271Visceromegaly0NDUFS2 CL E G H47207708ORPHA:2609Isolated complex I deficiency65
HP:0003271HP:0003271Visceromegaly0NDUFS3 CL E G H47227710ORPHA:2609Isolated complex I deficiency22
HP:0003271HP:0003271Visceromegaly0NDUFS4 CL E G H47247711ORPHA:2609Isolated complex I deficiency27
HP:0003271HP:0003271Visceromegaly0NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 127
HP:0003271HP:0003271Visceromegaly0NDUFS6 CL E G H47267713ORPHA:2609Isolated complex I deficiency21
HP:0003271HP:0003271Visceromegaly0NDUFS7 CL E G H3742917714ORPHA:2609Isolated complex I deficiency38
HP:0003271HP:0003271Visceromegaly0NDUFS7 CL E G H3742917714OMIM:618224Mitochondrial complex I deficiency, nuclear type 338
HP:0003271HP:0003271Visceromegaly0NDUFS8 CL E G H47287715ORPHA:2609Isolated complex I deficiency42
HP:0003271HP:0003271Visceromegaly0NDUFV1 CL E G H47237716ORPHA:2609Isolated complex I deficiency74
HP:0003271HP:0003271Visceromegaly0NDUFV2 CL E G H47297717ORPHA:2609Isolated complex I deficiency27
HP:0003271HP:0003271Visceromegaly0NEK8 CL E G H28408613387OMIM:615415Renal-Hepatic-Pancreatic dysplasia 243
HP:0003271HP:0003271Visceromegaly0NEU1 CL E G H47587758ORPHA:93400Congenital sialidosis type 243
HP:0003271HP:0003271Visceromegaly0NEU1 CL E G H47587758ORPHA:93399Juvenile sialidosis type 2HP:0040281 - Very frequent43
HP:0003271HP:0003271Visceromegaly0NEU1 CL E G H47587758OMIM:256550Neuraminidase deficiency43
HP:0003271HP:0003271Visceromegaly0NEU1 CL E G H47587758ORPHA:812Sialidosis type 143
HP:0003271HP:0003271Visceromegaly0NFKB1 CL E G H47907794ORPHA:1572Common variable immunodeficiency7
HP:0003271HP:0003271Visceromegaly0NFKB2 CL E G H47917795ORPHA:1572Common variable immunodeficiency11
HP:0003271HP:0003271Visceromegaly0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndrome32
HP:0003271HP:0003271Visceromegaly0NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0003271HP:0003271Visceromegaly0NHLRC2 CL E G H37435424731OMIM:618278Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0003271HP:0003271Visceromegaly0NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenita27
HP:0003271HP:0003271Visceromegaly0NLRC4 CL E G H5848416412OMIM:616050AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC30
HP:0003271HP:0003271Visceromegaly0NLRP1 CL E G H2286114374OMIM:617388AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK37
HP:0003271HP:0003271Visceromegaly0NLRP12 CL E G H9166222938OMIM:611762Familial cold autoinflammatory syndrome 299
HP:0003271HP:0003271Visceromegaly0NLRP3 CL E G H11454816400ORPHA:1451CINCA syndrome217
HP:0003271HP:0003271Visceromegaly0NLRP3 CL E G H11454816400OMIM:607115CINCA SYNDROME; CINCA217
HP:0003271HP:0003271Visceromegaly0NLRP3 CL E G H11454816400ORPHA:575Muckle-Wells syndrome217
HP:0003271HP:0003271Visceromegaly0NOD2 CL E G H641275331ORPHA:90340Blau syndrome187
HP:0003271HP:0003271Visceromegaly0NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenita17
HP:0003271HP:0003271Visceromegaly0NOTCH1 CL E G H48517881OMIM:616028Adams-Oliver syndrome 5452
HP:0003271HP:0003271Visceromegaly0NOTCH2 CL E G H48537882ORPHA:955Hajdu-Cheney syndrome138
HP:0003271HP:0003271Visceromegaly0NPC1 CL E G H48647897OMIM:257220Niemann-pick disease, type C1258
HP:0003271HP:0003271Visceromegaly0NPC2 CL E G H1057714537OMIM:607625Niemann-pick disease, type C233
HP:0003271HP:0003271Visceromegaly0NPHP3 CL E G H270317907OMIM:267010MECKEL SYNDROME, TYPE 7; MKS7157
HP:0003271HP:0003271Visceromegaly0NPHP3 CL E G H270317907OMIM:208540Renal-Hepatic-Pancreatic dysplasia157
HP:0003271HP:0003271Visceromegaly0NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenita12
HP:0003271HP:0003271Visceromegaly0NRAS CL E G H48937989ORPHA:648Noonan syndrome102
HP:0003271HP:0003271Visceromegaly0NRAS CL E G H48937989OMIM:614470RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic102
HP:0003271HP:0003271Visceromegaly0NSD2 CL E G H746812766OMIM:619695RAUCH-STEINDL SYNDROME; RAUST118
HP:0003271HP:0003271Visceromegaly0NUBPL CL E G H8022420278ORPHA:2609Isolated complex I deficiency89
HP:0003271HP:0003271Visceromegaly0OAS1 CL E G H49388086OMIM:618042Pulmonary alveolar proteinosis with hypogammaglobulinemia2
HP:0003271HP:0003271Visceromegaly0OCLN CL E G H1005066588104OMIM:251290Band-Like calcification with simplified gyration and polymicrogyria23
HP:0003271HP:0003271Visceromegaly0OSTM1 CL E G H2896221652OMIM:259720Osteopetrosis, autosomal recessive 573
HP:0003271HP:0003271Visceromegaly0OTC CL E G H50098512ORPHA:664Ornithine transcarbamylase deficiency369
HP:0003271HP:0003271Visceromegaly0OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0003271HP:0003271Visceromegaly0PALB2 CL E G H7972826144ORPHA:1333Familial pancreatic carcinoma1349
HP:0003271HP:0003271Visceromegaly0PALLD CL E G H2302217068ORPHA:1333Familial pancreatic carcinoma192
HP:0003271HP:0003271Visceromegaly0PARN CL E G H50738609ORPHA:1775Dyskeratosis congenita26
HP:0003271HP:0003271Visceromegaly0PC CL E G H50918636OMIM:266150Pyruvate carboxylase deficiency118
HP:0003271HP:0003271Visceromegaly0PCCA CL E G H50958653OMIM:606054Propionic acidemia96
HP:0003271HP:0003271Visceromegaly0PCCA CL E G H50958653ORPHA:35Propionic acidemia96
HP:0003271HP:0003271Visceromegaly0PCCB CL E G H50968654OMIM:606054Propionic acidemia92
HP:0003271HP:0003271Visceromegaly0PCCB CL E G H50968654ORPHA:35Propionic acidemia92
HP:0003271HP:0003271Visceromegaly0PCK1 CL E G H51058724OMIM:261680Phosphoenolpyruvate carboxykinase deficiency, cytosolic53
HP:0003271HP:0003271Visceromegaly0PDGFB CL E G H51558800ORPHA:1980Bilateral striopallidodentate calcinosis9
HP:0003271HP:0003271Visceromegaly0PDGFRA CL E G H51568803OMIM:607685Hypereosinophilic syndrome, idiopathic337
HP:0003271HP:0003271Visceromegaly0PDGFRB CL E G H51598804ORPHA:1980Bilateral striopallidodentate calcinosis28
HP:0003271HP:0003271Visceromegaly0PEPD CL E G H51848840OMIM:170100Prolidase deficiency66
HP:0003271HP:0003271Visceromegaly0PEPD CL E G H51848840ORPHA:742Prolidase deficiency66
HP:0003271HP:0003271Visceromegaly0PEX1 CL E G H51898850ORPHA:772Infantile Refsum disease169
HP:0003271HP:0003271Visceromegaly0PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger)169
HP:0003271HP:0003271Visceromegaly0PEX1 CL E G H51898850OMIM:601539Peroxisome biogenesis disorder 1B169
HP:0003271HP:0003271Visceromegaly0PEX1 CL E G H51898850ORPHA:912Zellweger syndrome169
HP:0003271HP:0003271Visceromegaly0PEX10 CL E G H51928851ORPHA:772Infantile Refsum disease75
HP:0003271HP:0003271Visceromegaly0PEX10 CL E G H51928851OMIM:614870Peroxisome biogenesis disorder 6A (Zellweger)75
HP:0003271HP:0003271Visceromegaly0PEX10 CL E G H51928851ORPHA:912Zellweger syndrome75
HP:0003271HP:0003271Visceromegaly0PEX11B CL E G H87998853ORPHA:772Infantile Refsum disease4
HP:0003271HP:0003271Visceromegaly0PEX11B CL E G H87998853ORPHA:912Zellweger syndrome4
HP:0003271HP:0003271Visceromegaly0PEX12 CL E G H51938854ORPHA:772Infantile Refsum disease65
HP:0003271HP:0003271Visceromegaly0PEX12 CL E G H51938854OMIM:614859Peroxisome biogenesis disorder 3A (Zellweger)65
HP:0003271HP:0003271Visceromegaly0PEX12 CL E G H51938854OMIM:266510Peroxisome biogenesis disorder 3B65
HP:0003271HP:0003271Visceromegaly0PEX12 CL E G H51938854ORPHA:912Zellweger syndrome65
HP:0003271HP:0003271Visceromegaly0PEX13 CL E G H51948855ORPHA:772Infantile Refsum disease66
HP:0003271HP:0003271Visceromegaly0PEX13 CL E G H51948855ORPHA:912Zellweger syndrome66
HP:0003271HP:0003271Visceromegaly0PEX14 CL E G H51958856ORPHA:772Infantile Refsum disease46
HP:0003271HP:0003271Visceromegaly0PEX14 CL E G H51958856OMIM:614887Peroxisome biogenesis disorder 13A (Zellweger)46
HP:0003271HP:0003271Visceromegaly0PEX14 CL E G H51958856ORPHA:912Zellweger syndrome46
HP:0003271HP:0003271Visceromegaly0PEX16 CL E G H94098857ORPHA:772Infantile Refsum disease59
HP:0003271HP:0003271Visceromegaly0PEX16 CL E G H94098857OMIM:614876Peroxisome biogenesis disorder 8A (Zellweger)59
HP:0003271HP:0003271Visceromegaly0PEX16 CL E G H94098857ORPHA:912Zellweger syndrome59
HP:0003271HP:0003271Visceromegaly0PEX19 CL E G H58249713ORPHA:772Infantile Refsum disease62
HP:0003271HP:0003271Visceromegaly0PEX19 CL E G H58249713ORPHA:912Zellweger syndrome62
HP:0003271HP:0003271Visceromegaly0PEX2 CL E G H58289717ORPHA:772Infantile Refsum disease82
HP:0003271HP:0003271Visceromegaly0PEX2 CL E G H58289717OMIM:614866Peroxisome biogenesis disorder 5A (Zellweger)82
HP:0003271HP:0003271Visceromegaly0PEX2 CL E G H58289717ORPHA:912Zellweger syndrome82
HP:0003271HP:0003271Visceromegaly0PEX26 CL E G H5567022965ORPHA:772Infantile Refsum disease106
HP:0003271HP:0003271Visceromegaly0PEX26 CL E G H5567022965OMIM:614872Peroxisome biogenesis disorder 7A (zellweger)106
HP:0003271HP:0003271Visceromegaly0PEX26 CL E G H5567022965ORPHA:912Zellweger syndrome106
HP:0003271HP:0003271Visceromegaly0PEX3 CL E G H85048858ORPHA:772Infantile Refsum disease47
HP:0003271HP:0003271Visceromegaly0PEX3 CL E G H85048858OMIM:614882Peroxisome biogenesis disorder 10A (Zellweger)47
HP:0003271HP:0003271Visceromegaly0PEX3 CL E G H85048858ORPHA:912Zellweger syndrome47
HP:0003271HP:0003271Visceromegaly0PEX5 CL E G H58309719ORPHA:772Infantile Refsum disease99
HP:0003271HP:0003271Visceromegaly0PEX5 CL E G H58309719OMIM:214110Peroxisome biogenesis disorder 2A (Zellweger)99
HP:0003271HP:0003271Visceromegaly0PEX5 CL E G H58309719ORPHA:912Zellweger syndrome99
HP:0003271HP:0003271Visceromegaly0PEX6 CL E G H51908859ORPHA:772Infantile Refsum disease98
HP:0003271HP:0003271Visceromegaly0PEX6 CL E G H51908859OMIM:614862Peroxisome biogenesis disorder 4A (Zellweger)98
HP:0003271HP:0003271Visceromegaly0PEX6 CL E G H51908859OMIM:614863Peroxisome biogenesis disorder 4B98
HP:0003271HP:0003271Visceromegaly0PEX6 CL E G H51908859ORPHA:912Zellweger syndrome98
HP:0003271HP:0003271Visceromegaly0PEX7 CL E G H51918860ORPHA:773Refsum disease72
HP:0003271HP:0003271Visceromegaly0PGM1 CL E G H52368905OMIM:614921Congenital disorder of glycosylation, type It58
HP:0003271HP:0003271Visceromegaly0PHKA2 CL E G H52568926ORPHA:264580Glycogen storage disease due to liver phosphorylase kinase deficiency54
HP:0003271HP:0003271Visceromegaly0PHKA2 CL E G H52568926OMIM:306000Glycogen storage disease ixa54
HP:0003271HP:0003271Visceromegaly0PHKB CL E G H52578927ORPHA:79240Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency101
HP:0003271HP:0003271Visceromegaly0PHKB CL E G H52578927OMIM:261750Glycogen storage disease ixb101
HP:0003271HP:0003271Visceromegaly0PHKG2 CL E G H52618931ORPHA:264580Glycogen storage disease due to liver phosphorylase kinase deficiency48
HP:0003271HP:0003271Visceromegaly0PHKG2 CL E G H52618931OMIM:613027Glycogen storage disease IXc48
HP:0003271HP:0003271Visceromegaly0PHYH CL E G H52648940ORPHA:773Refsum disease45
HP:0003271HP:0003271Visceromegaly0PIEZO1 CL E G H978028993ORPHA:3202Dehydrated hereditary stomatocytosis36
HP:0003271HP:0003271Visceromegaly0PIEZO1 CL E G H978028993OMIM:194380Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema36
HP:0003271HP:0003271Visceromegaly0PIEZO1 CL E G H978028993OMIM:616843Lymphedema, hereditary, III36
HP:0003271HP:0003271Visceromegaly0PIGA CL E G H52778957OMIM:300868Multiple congenital anomalies-hypotonia-seizures syndrome 246
HP:0003271HP:0003271Visceromegaly0PIGA CL E G H52778957OMIM:301072NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH46
HP:0003271HP:0003271Visceromegaly0PIGM CL E G H9318318858OMIM:610293Glycosylphosphatidylinositol deficiency6
HP:0003271HP:0003271Visceromegaly0PIGS CL E G H9400514937OMIM:618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0003271HP:0003271Visceromegaly0PIK3C2A CL E G H52868971OMIM:618440Oculoskeletodental syndrome
HP:0003271HP:0003271Visceromegaly0PIK3CA CL E G H52908975OMIM:612918Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi162
HP:0003271HP:0003271Visceromegaly0PIK3CD CL E G H52938977OMIM:615513IMMUNODEFICIENCY 14; IMD149
HP:0003271HP:0003271Visceromegaly0PIK3CG CL E G H52948978OMIM:619802IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD972
HP:0003271HP:0003271Visceromegaly0PIK3R1 CL E G H52958979OMIM:616005Immunodeficiency 3643
HP:0003271HP:0003271Visceromegaly0PKD2 CL E G H53119009OMIM:613095Polycystic kidney disease 2106
HP:0003271HP:0003271Visceromegaly0PKHD1 CL E G H53149016ORPHA:731Autosomal recessive polycystic kidney disease563
HP:0003271HP:0003271Visceromegaly0PKHD1 CL E G H53149016ORPHA:53035Caroli disease563
HP:0003271HP:0003271Visceromegaly0PKHD1 CL E G H53149016OMIM:263200Polycystic kidney disease 4 with or without polycystic liver disease563
HP:0003271HP:0003271Visceromegaly0PKLR CL E G H53139020ORPHA:766Hemolytic anemia due to red cell pyruvate kinase deficiency51
HP:0003271HP:0003271Visceromegaly0PKLR CL E G H53139020OMIM:266200Pyruvate kinase deficiency of red cells51
HP:0003271HP:0003271Visceromegaly0PLAGL1 CL E G H53259046ORPHA:96191Paternal uniparental disomy of chromosome 6
HP:0003271HP:0003271Visceromegaly0PLEKHM1 CL E G H984229017ORPHA:210110Intermediate osteopetrosis2
HP:0003271HP:0003271Visceromegaly0PLEKHM1 CL E G H984229017OMIM:618107OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA32
HP:0003271HP:0003271Visceromegaly0PMM2 CL E G H53739115OMIM:212065Congenital disorder of glycosylation, type Ia150
HP:0003271HP:0003271Visceromegaly0PNP CL E G H48607892OMIM:613179Immunodeficiency due to purine nucleoside phosphorylase deficiency52
HP:0003271HP:0003271Visceromegaly0PNPLA2 CL E G H5710430802OMIM:610717Neutral lipid storage disease with myopathy65
HP:0003271HP:0003271Visceromegaly0PNPLA2 CL E G H5710430802ORPHA:98908Neutral lipid storage myopathy65
HP:0003271HP:0003271Visceromegaly0PNPLA2 CL E G H5710430802ORPHA:565612Triglyceride deposit cardiomyovasculopathy65
HP:0003271HP:0003271Visceromegaly0POLD1 CL E G H54249175OMIM:615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome731
HP:0003271HP:0003271Visceromegaly0POLG CL E G H54289179OMIM:203700Mitochondrial DNA depletion syndrome 4A (Alpers type)464
HP:0003271HP:0003271Visceromegaly0POLG2 CL E G H112329180OMIM:618528Mitochondrial DNA depletion syndrome 16 (hepatic type)45
HP:0003271HP:0003271Visceromegaly0PPARG CL E G H54689236ORPHA:528Congenital generalized lipodystrophy42
HP:0003271HP:0003271Visceromegaly0PPARG CL E G H54689236ORPHA:79083PPARG-related familial partial lipodystrophy42
HP:0003271HP:0003271Visceromegaly0PPP1R21 CL E G H12928530595OMIM:619383NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0003271HP:0003271Visceromegaly0PRF1 CL E G H55519360ORPHA:540Familial hemophagocytic lymphohistiocytosis58
HP:0003271HP:0003271Visceromegaly0PRF1 CL E G H55519360OMIM:603553Hemophagocytic lymphohistiocytosis, familial, 258
HP:0003271HP:0003271Visceromegaly0PRKCD CL E G H55809399ORPHA:3261Autoimmune lymphoproliferative syndrome10
HP:0003271HP:0003271Visceromegaly0PRKCD CL E G H55809399OMIM:615559AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS310
HP:0003271HP:0003271Visceromegaly0PRKCD CL E G H55809399ORPHA:1572Common variable immunodeficiency10
HP:0003271HP:0003271Visceromegaly0PRKCSH CL E G H55899411ORPHA:2924Isolated polycystic liver disease63
HP:0003271HP:0003271Visceromegaly0PSAP CL E G H56609498OMIM:611721Combined saposin deficiency81
HP:0003271HP:0003271Visceromegaly0PSAP CL E G H56609498ORPHA:139406Encephalopathy due to prosaposin deficiency81
HP:0003271HP:0003271Visceromegaly0PSAP CL E G H56609498OMIM:610539Gaucher disease, atypical81
HP:0003271HP:0003271Visceromegaly0PSMB10 CL E G H56999538OMIM:619175PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5; PRAAS5
HP:0003271HP:0003271Visceromegaly0PSMB4 CL E G H56929541OMIM:617591Proteasome-Associated autoinflammatory syndrome 3
HP:0003271HP:0003271Visceromegaly0PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0003271HP:0003271Visceromegaly0PSMB9 CL E G H56989546OMIM:617591Proteasome-Associated autoinflammatory syndrome 3
HP:0003271HP:0003271Visceromegaly0PSMG2 CL E G H5698424929OMIM:619183PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0003271HP:0003271Visceromegaly0PSTPIP1 CL E G H90519580OMIM:604416Pyogenic sterile arthritis, pyoderma gangrenosum, and acne96
HP:0003271HP:0003271Visceromegaly0PTEN CL E G H57289588OMIM:605309Macrocephaly/autism syndrome948
HP:0003271HP:0003271Visceromegaly0PTEN CL E G H57289588ORPHA:744Proteus syndrome948
HP:0003271HP:0003271Visceromegaly0PTEN CL E G H57289588ORPHA:2969Proteus-like syndrome948
HP:0003271HP:0003271Visceromegaly0PTPN11 CL E G H57819644ORPHA:648Noonan syndrome291
HP:0003271HP:0003271Visceromegaly0PTPN2 CL E G H57719650ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0003271HP:0003271Visceromegaly0PTPN22 CL E G H261919652ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis3
HP:0003271HP:0003271Visceromegaly0PTPRC CL E G H57889666OMIM:61992425
HP:0003271HP:0003271Visceromegaly0PTRH2 CL E G H5165124265ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic disease6
HP:0003271HP:0003271Visceromegaly0PTRH2 CL E G H5165124265OMIM:616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset6
HP:0003271HP:0003271Visceromegaly0PUS7 CL E G H5451726033OMIM:618342Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0003271HP:0003271Visceromegaly0PYGL CL E G H58369725ORPHA:369Glycogen storage disease due to liver glycogen phosphorylase deficiency71
HP:0003271HP:0003271Visceromegaly0PYGL CL E G H58369725OMIM:232700Glycogen storage disease VI71
HP:0003271HP:0003271Visceromegaly0RAB27A CL E G H58739766ORPHA:79477Griscelli syndrome type 267
HP:0003271HP:0003271Visceromegaly0RAB27A CL E G H58739766OMIM:607624Griscelli syndrome, type 267
HP:0003271HP:0003271Visceromegaly0RABL3 CL E G H28528218072ORPHA:1333Familial pancreatic carcinoma
HP:0003271HP:0003271Visceromegaly0RAC2 CL E G H58809802OMIM:618986IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B9
HP:0003271HP:0003271Visceromegaly0RAF1 CL E G H58949829ORPHA:648Noonan syndrome212
HP:0003271HP:0003271Visceromegaly0RAG1 CL E G H58969831ORPHA:231154Combined immunodeficiency due to partial RAG1 deficiency127
HP:0003271HP:0003271Visceromegaly0RAG1 CL E G H58969831OMIM:603554Omenn syndrome127
HP:0003271HP:0003271Visceromegaly0RAG1 CL E G H58969831ORPHA:39041Omenn syndrome127
HP:0003271HP:0003271Visceromegaly0RAG1 CL E G H58969831ORPHA:331206Severe combined immunodeficiency due to complete RAG1/2 deficiency127
HP:0003271HP:0003271Visceromegaly0RAG2 CL E G H58979832ORPHA:39041Omenn syndrome50
HP:0003271HP:0003271Visceromegaly0RAG2 CL E G H58979832OMIM:603554Omenn syndrome50
HP:0003271HP:0003271Visceromegaly0RAG2 CL E G H58979832ORPHA:331206Severe combined immunodeficiency due to complete RAG1/2 deficiency50
HP:0003271HP:0003271Visceromegaly0RASA2 CL E G H59229872ORPHA:648Noonan syndrome3
HP:0003271HP:0003271Visceromegaly0RASGRP1 CL E G H101259878ORPHA:3261Autoimmune lymphoproliferative syndrome
HP:0003271HP:0003271Visceromegaly0RASGRP1 CL E G H101259878OMIM:618534IMMUNODEFICIENCY 64; IMD64
HP:0003271HP:0003271Visceromegaly0RBCK1 CL E G H1061615864OMIM:615895Polyglucosan body myopathy 1 with or without immunodeficiency10
HP:0003271HP:0003271Visceromegaly0RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0003271HP:0003271Visceromegaly0REL CL E G H59669954OMIM:619652IMMUNODEFICIENCY 92; IMD921
HP:0003271HP:0003271Visceromegaly0RFT1 CL E G H9186930220OMIM:612015Congenital disorder of glycosylation, type IN92
HP:0003271HP:0003271Visceromegaly0RFT1 CL E G H9186930220ORPHA:244310RFT1-CDG92
HP:0003271HP:0003271Visceromegaly0RHAG CL E G H600510006OMIM:185000Overhydrated hereditary stomatocytosis13
HP:0003271HP:0003271Visceromegaly0RHAG CL E G H600510006ORPHA:3203Overhydrated hereditary stomatocytosis13
HP:0003271HP:0003271Visceromegaly0RHAG CL E G H600510006ORPHA:71275Rh deficiency syndrome13
HP:0003271HP:0003271Visceromegaly0RHBDF2 CL E G H7965120788ORPHA:2198Palmoplantar keratoderma-esophageal carcinoma syndrome80
HP:0003271HP:0003271Visceromegaly0RHCE CL E G H600610008ORPHA:71275Rh deficiency syndrome8
HP:0003271HP:0003271Visceromegaly0RHD CL E G H600710009OMIM:619462Hemolytic disease of fetus and newborn, RH-induced16
HP:0003271HP:0003271Visceromegaly0RHD CL E G H600710009ORPHA:71275Rh deficiency syndrome16
HP:0003271HP:0003271Visceromegaly0RINT1 CL E G H6056121876OMIM:618641INFANTILE LIVER FAILURE SYNDROME 3; ILFS399
HP:0003271HP:0003271Visceromegaly0RIPK1 CL E G H873710019OMIM:618852AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL
HP:0003271HP:0003271Visceromegaly0RIT1 CL E G H601610023ORPHA:648Noonan syndrome39
HP:0003271HP:0003271Visceromegaly0RMND1 CL E G H5500521176OMIM:614922Combined oxidative phosphorylation deficiency 1126
HP:0003271HP:0003271Visceromegaly0RMRP CL E G H602310031ORPHA:175Cartilage-hair hypoplasia37
HP:0003271HP:0003271Visceromegaly0RMRP CL E G H602310031ORPHA:39041Omenn syndrome37
HP:0003271HP:0003271Visceromegaly0RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndrome33
HP:0003271HP:0003271Visceromegaly0RNASEH2A CL E G H1053518518OMIM:610333Aicardi-Goutieres syndrome 433
HP:0003271HP:0003271Visceromegaly0RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndrome34
HP:0003271HP:0003271Visceromegaly0RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndrome60
HP:0003271HP:0003271Visceromegaly0RNASEH2C CL E G H8415324116OMIM:610329Aicardi-Goutieres syndrome 360
HP:0003271HP:0003271Visceromegaly0RNU4ATAC CL E G H10015168334016OMIM:616651Roifman syndrome15
HP:0003271HP:0003271Visceromegaly0RNU4ATAC CL E G H10015168334016ORPHA:353298Roifman syndrome15
HP:0003271HP:0003271Visceromegaly0RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndrome
HP:0003271HP:0003271Visceromegaly0RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0003271HP:0003271Visceromegaly0RPGRIP1L CL E G H2332229168ORPHA:1454Joubert syndrome with hepatic defect167
HP:0003271HP:0003271Visceromegaly0RRAS CL E G H623710447ORPHA:648Noonan syndrome
HP:0003271HP:0003271Visceromegaly0RRAS2 CL E G H2280017271ORPHA:648Noonan syndrome1
HP:0003271HP:0003271Visceromegaly0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndrome
HP:0003271HP:0003271Visceromegaly0RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenita77
HP:0003271HP:0003271Visceromegaly0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0003271HP:0003271Visceromegaly0RUNX1 CL E G H86110471ORPHA:98850Aggressive systemic mastocytosis181
HP:0003271HP:0003271Visceromegaly0RUNX1 CL E G H86110471ORPHA:521Chronic myeloid leukemia181
HP:0003271HP:0003271Visceromegaly0SAA1 CL E G H628810513ORPHA:85445AA amyloidosis2
HP:0003271HP:0003271Visceromegaly0SAMD9L CL E G H2192851349ORPHA:2585Ataxia-pancytopenia syndrome4
HP:0003271HP:0003271Visceromegaly0SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndrome55
HP:0003271HP:0003271Visceromegaly0SASH3 CL E G H5444015975OMIM:3010821
HP:0003271HP:0003271Visceromegaly0SBDS CL E G H5111919440ORPHA:811Shwachman-Diamond syndrome26
HP:0003271HP:0003271Visceromegaly0SBDS CL E G H5111919440OMIM:260400Shwachman-Diamond syndrome 126
HP:0003271HP:0003271Visceromegaly0SC5D CL E G H630910547OMIM:607330LATHOSTEROLOSIS80
HP:0003271HP:0003271Visceromegaly0SC5D CL E G H630910547ORPHA:46059Lathosterolosis80
HP:0003271HP:0003271Visceromegaly0SCARB2 CL E G H9501665ORPHA:77259Gaucher disease type 177
HP:0003271HP:0003271Visceromegaly0SCO1 CL E G H634110603OMIM:619048MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN446
HP:0003271HP:0003271Visceromegaly0SCO2 CL E G H999710604OMIM:604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 140
HP:0003271HP:0003271Visceromegaly0SCYL1 CL E G H5741014372ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome5
HP:0003271HP:0003271Visceromegaly0SCYL1 CL E G H5741014372OMIM:616719Spinocerebellar ataxia, autosomal recessive 215
HP:0003271HP:0003271Visceromegaly0SDHD CL E G H639210683OMIM:619167MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3129
HP:0003271HP:0003271Visceromegaly0SEC23B CL E G H1048310702OMIM:224100Anemia, dyserythropoietic congenital, type II60
HP:0003271HP:0003271Visceromegaly0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndrome
HP:0003271HP:0003271Visceromegaly0SEC63 CL E G H1123121082ORPHA:2924Isolated polycystic liver disease137
HP:0003271HP:0003271Visceromegaly0SEC63 CL E G H1123121082OMIM:617004Polycystic liver disease 2137
HP:0003271HP:0003271Visceromegaly0SEMA4D CL E G H1050710732ORPHA:171Primary sclerosing cholangitis
HP:0003271HP:0003271Visceromegaly0SERPINA1 CL E G H52658941ORPHA:60Alpha-1-antitrypsin deficiency131
HP:0003271HP:0003271Visceromegaly0SERPINA1 CL E G H52658941OMIM:613490Alpha-1-Antitrypsin deficiency131
HP:0003271HP:0003271Visceromegaly0SF3B1 CL E G H2345110768ORPHA:75564Acquired idiopathic sideroblastic anemia19
HP:0003271HP:0003271Visceromegaly0SGSH CL E G H644810818OMIM:252900Mucopolysaccharidosis type IIIA97
HP:0003271HP:0003271Visceromegaly0SH2B3 CL E G H1001929605OMIM:133100Erythrocytosis, familial, 14
HP:0003271HP:0003271Visceromegaly0SH2B3 CL E G H1001929605ORPHA:3318Essential thrombocythemia4
HP:0003271HP:0003271Visceromegaly0SH2B3 CL E G H1001929605OMIM:254450Myelofibrosismyelofibrosis with myeloid metaplasia, included4
HP:0003271HP:0003271Visceromegaly0SH2B3 CL E G H1001929605OMIM:187950THROMBOCYTHEMIA 1; THCYT14
HP:0003271HP:0003271Visceromegaly0SH2D1A CL E G H406810820OMIM:308240Lymphoproliferative syndrome, X-linked, 137
HP:0003271HP:0003271Visceromegaly0SKIC2 CL E G H649910898ORPHA:84064Syndromic diarrhea
HP:0003271HP:0003271Visceromegaly0SKIC2 CL E G H649910898OMIM:614602Trichohepatoenteric syndrome 2
HP:0003271HP:0003271Visceromegaly0SKIC3 CL E G H965223639ORPHA:84064Syndromic diarrhea
HP:0003271HP:0003271Visceromegaly0SKIC3 CL E G H965223639OMIM:222470Trichohepatoenteric syndrome 1
HP:0003271HP:0003271Visceromegaly0SLC17A5 CL E G H2650310933OMIM:269920Infantile sialic acid storage disease78
HP:0003271HP:0003271Visceromegaly0SLC20A2 CL E G H657510947ORPHA:1980Bilateral striopallidodentate calcinosis70
HP:0003271HP:0003271Visceromegaly0SLC22A5 CL E G H658410969OMIM:212140Carnitine deficiency, systemic primary207
HP:0003271HP:0003271Visceromegaly0SLC22A5 CL E G H658410969ORPHA:158Systemic primary carnitine deficiency207
HP:0003271HP:0003271Visceromegaly0SLC25A1 CL E G H657610979OMIM:615182Combined d-2- and l-2-hydroxyglutaric aciduria28
HP:0003271HP:0003271Visceromegaly0SLC25A13 CL E G H1016510983ORPHA:247585Citrullinemia type II82
HP:0003271HP:0003271Visceromegaly0SLC25A13 CL E G H1016510983ORPHA:247598Neonatal intrahepatic cholestasis due to citrin deficiency82
HP:0003271HP:0003271Visceromegaly0SLC25A15 CL E G H1016610985OMIM:238970Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome88
HP:0003271HP:0003271Visceromegaly0SLC25A15 CL E G H1016610985ORPHA:415Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome88
HP:0003271HP:0003271Visceromegaly0SLC25A19 CL E G H6038614409ORPHA:99742Amish lethal microcephaly36
HP:0003271HP:0003271Visceromegaly0SLC25A19 CL E G H6038614409OMIM:607196Microcephaly, Amish type36
HP:0003271HP:0003271Visceromegaly0SLC25A20 CL E G H7881421OMIM:212138Carnitine-acylcarnitine translocase deficiency40
HP:0003271HP:0003271Visceromegaly0SLC25A20 CL E G H7881421ORPHA:159Carnitine-acylcarnitine translocase deficiency40
HP:0003271HP:0003271Visceromegaly0SLC29A3 CL E G H5531523096ORPHA:168569H syndrome68
HP:0003271HP:0003271Visceromegaly0SLC29A3 CL E G H5531523096OMIM:602782Histiocytosis-lymphadenopathy plus syndrome68
HP:0003271HP:0003271Visceromegaly0SLC2A1 CL E G H651311005OMIM:612126Glut1 deficiency syndrome 2255
HP:0003271HP:0003271Visceromegaly0SLC2A1 CL E G H651311005ORPHA:168577Hereditary cryohydrocytosis with reduced stomatin255
HP:0003271HP:0003271Visceromegaly0SLC2A1 CL E G H651311005OMIM:608885Stomatin-Deficient cryohydrocytosis with neurologic defects255
HP:0003271HP:0003271Visceromegaly0SLC2A2 CL E G H651411006ORPHA:2088Fanconi-Bickel syndrome71
HP:0003271HP:0003271Visceromegaly0SLC30A10 CL E G H5553225355ORPHA:309854Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome42
HP:0003271HP:0003271Visceromegaly0SLC30A10 CL E G H5553225355OMIM:613280Hypermanganesemia with dystonia 142
HP:0003271HP:0003271Visceromegaly0SLC34A2 CL E G H1056811020ORPHA:60025Pulmonary alveolar microlithiasis7
HP:0003271HP:0003271Visceromegaly0SLC35C1 CL E G H5534320197ORPHA:99843Leukocyte adhesion deficiency type II71
HP:0003271HP:0003271Visceromegaly0SLC37A4 CL E G H25424061OMIM:619525CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W110
HP:0003271HP:0003271Visceromegaly0SLC37A4 CL E G H25424061ORPHA:79259Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib110
HP:0003271HP:0003271Visceromegaly0SLC37A4 CL E G H25424061OMIM:232220Glycogen storage disease ib110
HP:0003271HP:0003271Visceromegaly0SLC37A4 CL E G H25424061OMIM:232240GLYCOGEN STORAGE DISEASE Ic110
HP:0003271HP:0003271Visceromegaly0SLC38A3 CL E G H1099118044OMIM:619881
HP:0003271HP:0003271Visceromegaly0SLC39A4 CL E G H5563017129OMIM:201100Acrodermatitis enteropathica, Zinc-Deficiency type55
HP:0003271HP:0003271Visceromegaly0SLC40A1 CL E G H3006110909OMIM:606069Hemochromatosis, type 456
HP:0003271HP:0003271Visceromegaly0SLC4A1 CL E G H652111027OMIM:185020CRYOHYDROCYTOSIS109
HP:0003271HP:0003271Visceromegaly0SLC4A1 CL E G H652111027ORPHA:3202Dehydrated hereditary stomatocytosis109
HP:0003271HP:0003271Visceromegaly0SLC4A1 CL E G H652111027ORPHA:822Hereditary spherocytosis109
HP:0003271HP:0003271Visceromegaly0SLC4A1 CL E G H652111027OMIM:611590Renal tubular acidosis, distal, with hemolytic anemia109
HP:0003271HP:0003271Visceromegaly0SLC4A1 CL E G H652111027OMIM:612653Spherocytosis, type 4109
HP:0003271HP:0003271Visceromegaly0SLC7A7 CL E G H905611065ORPHA:470Lysinuric protein intolerance104
HP:0003271HP:0003271Visceromegaly0SLC7A7 CL E G H905611065OMIM:222700Lysinuric protein intolerance104
HP:0003271HP:0003271Visceromegaly0SLCO2A1 CL E G H657810955ORPHA:2796Pachydermoperiostosis13
HP:0003271HP:0003271Visceromegaly0SMAD4 CL E G H40896770ORPHA:1333Familial pancreatic carcinoma504
HP:0003271HP:0003271Visceromegaly0SMPD1 CL E G H660911120ORPHA:77293Niemann-Pick disease type B164
HP:0003271HP:0003271Visceromegaly0SMPD1 CL E G H660911120OMIM:257200Niemann-Pick disease, type A164
HP:0003271HP:0003271Visceromegaly0SMPD1 CL E G H660911120OMIM:607616Niemann-pick disease, type B164
HP:0003271HP:0003271Visceromegaly0SNX10 CL E G H2988714974ORPHA:667Autosomal recessive malignant osteopetrosis2
HP:0003271HP:0003271Visceromegaly0SNX10 CL E G H2988714974OMIM:615085Osteopetrosis, autosomal recessive 82
HP:0003271HP:0003271Visceromegaly0SNX14 CL E G H5723114977ORPHA:397709Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome14
HP:0003271HP:0003271Visceromegaly0SNX14 CL E G H5723114977OMIM:616354Spinocerebellar ataxia, autosomal recessive 2014
HP:0003271HP:0003271Visceromegaly0SOCS1 CL E G H865119383OMIM:619375AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD6
HP:0003271HP:0003271Visceromegaly0SOS1 CL E G H665411187ORPHA:648Noonan syndrome315
HP:0003271HP:0003271Visceromegaly0SOS2 CL E G H665511188ORPHA:648Noonan syndrome30
HP:0003271HP:0003271Visceromegaly0SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease61
HP:0003271HP:0003271Visceromegaly0SOX10 CL E G H666311190ORPHA:163746Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease61
HP:0003271HP:0003271Visceromegaly0SP110 CL E G H34315401ORPHA:79124Hepatic veno-occlusive disease-immunodeficiency syndrome49
HP:0003271HP:0003271Visceromegaly0SPRED2 CL E G H20073417722ORPHA:648Noonan syndrome
HP:0003271HP:0003271Visceromegaly0SPTA1 CL E G H670811272ORPHA:288Hereditary elliptocytosis228
HP:0003271HP:0003271Visceromegaly0SPTA1 CL E G H670811272ORPHA:822Hereditary spherocytosis228
HP:0003271HP:0003271Visceromegaly0SPTB CL E G H671011274ORPHA:288Hereditary elliptocytosis156
HP:0003271HP:0003271Visceromegaly0SPTB CL E G H671011274ORPHA:822Hereditary spherocytosis156
HP:0003271HP:0003271Visceromegaly0SPTB CL E G H671011274OMIM:616649SPHEROCYTOSIS, TYPE 2; SPH2156
HP:0003271HP:0003271Visceromegaly0SRP54 CL E G H672911301ORPHA:811Shwachman-Diamond syndrome
HP:0003271HP:0003271Visceromegaly0SRP54 CL E G H672911301OMIM:260400Shwachman-Diamond syndrome 1
HP:0003271HP:0003271Visceromegaly0SRSF2 CL E G H642710783ORPHA:98850Aggressive systemic mastocytosis1
HP:0003271HP:0003271Visceromegaly0SRSF2 CL E G H642710783ORPHA:98849Systemic mastocytosis with associated hematologic neoplasm1
HP:0003271HP:0003271Visceromegaly0STAT1 CL E G H677211362ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome89
HP:0003271HP:0003271Visceromegaly0STAT1 CL E G H677211362OMIM:614162Immunodeficiency 31C89
HP:0003271HP:0003271Visceromegaly0STAT3 CL E G H677411364OMIM:615952AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1110
HP:0003271HP:0003271Visceromegaly0STAT4 CL E G H677511365ORPHA:117Behçet disease2
HP:0003271HP:0003271Visceromegaly0STAT4 CL E G H677511365ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis2
HP:0003271HP:0003271Visceromegaly0STEAP3 CL E G H5524024592OMIM:615234Anemia, hypochromic microcytic, with iron overload 21
HP:0003271HP:0003271Visceromegaly0STEAP3 CL E G H5524024592ORPHA:300298Severe congenital hypochromic anemia with ringed sideroblasts1
HP:0003271HP:0003271Visceromegaly0STX11 CL E G H867611429ORPHA:540Familial hemophagocytic lymphohistiocytosis85
HP:0003271HP:0003271Visceromegaly0STX11 CL E G H867611429OMIM:603552HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL485
HP:0003271HP:0003271Visceromegaly0STXBP2 CL E G H681311445ORPHA:540Familial hemophagocytic lymphohistiocytosis70
HP:0003271HP:0003271Visceromegaly0STXBP2 CL E G H681311445OMIM:613101HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL570
HP:0003271HP:0003271Visceromegaly0SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduria60
HP:0003271HP:0003271Visceromegaly0SUMF1 CL E G H28536220376OMIM:272200Multiple sulfatase deficiency80
HP:0003271HP:0003271Visceromegaly0SUMF1 CL E G H28536220376ORPHA:585Multiple sulfatase deficiency80
HP:0003271HP:0003271Visceromegaly0SURF1 CL E G H683411474OMIM:220110Mitochondrial complex IV deficiency73
HP:0003271HP:0003271Visceromegaly0SYK CL E G H685011491OMIM:619381IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD821
HP:0003271HP:0003271Visceromegaly0TALDO1 CL E G H688811559OMIM:606003Transaldolase deficiency34
HP:0003271HP:0003271Visceromegaly0TALDO1 CL E G H688811559ORPHA:101028Transaldolase deficiency34
HP:0003271HP:0003271Visceromegaly0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndrome32
HP:0003271HP:0003271Visceromegaly0TBX1 CL E G H689911592OMIM:188400Digeorge syndrome32
HP:0003271HP:0003271Visceromegaly0TBXAS1 CL E G H691611609ORPHA:1802Ghosal hematodiaphyseal dysplasia16
HP:0003271HP:0003271Visceromegaly0TCF3 CL E G H692911633OMIM:619824AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B2
HP:0003271HP:0003271Visceromegaly0TCF4 CL E G H692511634ORPHA:171Primary sclerosing cholangitis241
HP:0003271HP:0003271Visceromegaly0TCIRG1 CL E G H1031211647ORPHA:667Autosomal recessive malignant osteopetrosis82
HP:0003271HP:0003271Visceromegaly0TCIRG1 CL E G H1031211647ORPHA:210110Intermediate osteopetrosis82
HP:0003271HP:0003271Visceromegaly0TCIRG1 CL E G H1031211647OMIM:259700Osteopetrosis, autosomal recessive 182
HP:0003271HP:0003271Visceromegaly0TERC CL E G H701211727ORPHA:1775Dyskeratosis congenita48
HP:0003271HP:0003271Visceromegaly0TERT CL E G H701511730ORPHA:1775Dyskeratosis congenita238
HP:0003271HP:0003271Visceromegaly0TET2 CL E G H5479025941ORPHA:75564Acquired idiopathic sideroblastic anemia3
HP:0003271HP:0003271Visceromegaly0TET2 CL E G H5479025941ORPHA:98850Aggressive systemic mastocytosis3
HP:0003271HP:0003271Visceromegaly0TET2 CL E G H5479025941ORPHA:3318Essential thrombocythemia3
HP:0003271HP:0003271Visceromegaly0TET2 CL E G H5479025941OMIM:619126IMMUNODEFICIENCY 75; IMD753
HP:0003271HP:0003271Visceromegaly0TET2 CL E G H5479025941ORPHA:729Polycythemia vera3
HP:0003271HP:0003271Visceromegaly0TET2 CL E G H5479025941ORPHA:824Primary myelofibrosis3
HP:0003271HP:0003271Visceromegaly0TET2 CL E G H5479025941ORPHA:98849Systemic mastocytosis with associated hematologic neoplasm3
HP:0003271HP:0003271Visceromegaly0TFE3 CL E G H703011752OMIM:301066INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0003271HP:0003271Visceromegaly0TGFB1 CL E G H704011766ORPHA:1328Camurati-Engelmann disease13
HP:0003271HP:0003271Visceromegaly0TGFB1 CL E G H704011766OMIM:219700Cystic fibrosis13
HP:0003271HP:0003271Visceromegaly0THPO CL E G H706611795ORPHA:71493Familial thrombocytosis23
HP:0003271HP:0003271Visceromegaly0THPO CL E G H706611795OMIM:187950THROMBOCYTHEMIA 1; THCYT123
HP:0003271HP:0003271Visceromegaly0TIMMDC1 CL E G H513001321ORPHA:2609Isolated complex I deficiency1
HP:0003271HP:0003271Visceromegaly0TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenita60
HP:0003271HP:0003271Visceromegaly0TKFC CL E G H2600724552OMIM:618805TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0003271HP:0003271Visceromegaly0TKT CL E G H708611834ORPHA:488618Transketolase deficiency4
HP:0003271HP:0003271Visceromegaly0TLR4 CL E G H709911850ORPHA:117Behçet disease3
HP:0003271HP:0003271Visceromegaly0TLR8 CL E G H5131115632OMIM:301078IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0003271HP:0003271Visceromegaly0TMEM126B CL E G H5586330883ORPHA:2609Isolated complex I deficiency4
HP:0003271HP:0003271Visceromegaly0TMEM165 CL E G H5585830760OMIM:614727Congenital disorder of glycosylation, type IIK24
HP:0003271HP:0003271Visceromegaly0TMEM67 CL E G H9114728396OMIM:216360Coach syndrome 1166
HP:0003271HP:0003271Visceromegaly0TMEM67 CL E G H9114728396ORPHA:1454Joubert syndrome with hepatic defect166
HP:0003271HP:0003271Visceromegaly0TMEM67 CL E G H9114728396OMIM:607361Meckel syndrome 3166
HP:0003271HP:0003271Visceromegaly0TMEM67 CL E G H9114728396ORPHA:84081Senior-Boichis syndrome166
HP:0003271HP:0003271Visceromegaly0TMEM70 CL E G H5496826050ORPHA:1194TMEM70-related mitochondrial encephalo-cardio-myopathy63
HP:0003271HP:0003271Visceromegaly0TNFRSF11A CL E G H879211908OMIM:612301OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB772
HP:0003271HP:0003271Visceromegaly0TNFRSF13B CL E G H2349518153ORPHA:1572Common variable immunodeficiency32
HP:0003271HP:0003271Visceromegaly0TNFRSF13B CL E G H2349518153OMIM:240500Immunodeficiency, common variable, 232
HP:0003271HP:0003271Visceromegaly0TNFRSF13C CL E G H11565017755ORPHA:1572Common variable immunodeficiency12
HP:0003271HP:0003271Visceromegaly0TNFRSF13C CL E G H11565017755OMIM:240500Immunodeficiency, common variable, 212
HP:0003271HP:0003271Visceromegaly0TNFRSF1A CL E G H713211916OMIM:142680Periodic fever, familial, autosomal dominant131
HP:0003271HP:0003271Visceromegaly0TNFRSF1A CL E G H713211916ORPHA:32960Tumor necrosis factor receptor 1 associated periodic syndrome131
HP:0003271HP:0003271Visceromegaly0TNFRSF1B CL E G H713311917ORPHA:2584Classic mycosis fungoides
HP:0003271HP:0003271Visceromegaly0TNFRSF1B CL E G H713311917ORPHA:3162Sézary syndrome
HP:0003271HP:0003271Visceromegaly0TNFRSF4 CL E G H729311918OMIM:615593Immunodeficiency 162
HP:0003271HP:0003271Visceromegaly0TNFSF11 CL E G H860011926ORPHA:667Autosomal recessive malignant osteopetrosis44
HP:0003271HP:0003271Visceromegaly0TNFSF11 CL E G H860011926OMIM:259710Osteopetrosis, autosomal recessive 244
HP:0003271HP:0003271Visceromegaly0TNFSF12 CL E G H874211927ORPHA:1572Common variable immunodeficiency1
HP:0003271HP:0003271Visceromegaly0TNNI3 CL E G H713711947ORPHA:75249Familial isolated restrictive cardiomyopathy180
HP:0003271HP:0003271Visceromegaly0TNNT2 CL E G H713911949ORPHA:75249Familial isolated restrictive cardiomyopathy248
HP:0003271HP:0003271Visceromegaly0TOGARAM1 CL E G H2311619959OMIM:619185JOUBERT SYNDROME 37; JBTS37
HP:0003271HP:0003271Visceromegaly0TOM1 CL E G H1004311982ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0003271HP:0003271Visceromegaly0TP53 CL E G H715711998ORPHA:3318Essential thrombocythemia911
HP:0003271HP:0003271Visceromegaly0TP53 CL E G H715711998ORPHA:1333Familial pancreatic carcinoma911
HP:0003271HP:0003271Visceromegaly0TPI1 CL E G H716712009OMIM:615512Triosephosphate isomerase deficiency28
HP:0003271HP:0003271Visceromegaly0TPP2 CL E G H717412016ORPHA:444463Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
HP:0003271HP:0003271Visceromegaly0TPP2 CL E G H717412016OMIM:619220IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0003271HP:0003271Visceromegaly0TRAPPC11 CL E G H6068425751OMIM:615356Muscular dystrophy, limb-girdle, autosomal recessive 1827
HP:0003271HP:0003271Visceromegaly0TRAPPC11 CL E G H6068425751ORPHA:369840TRAPPC11-related limb-girdle muscular dystrophy R1827
HP:0003271HP:0003271Visceromegaly0TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndrome56
HP:0003271HP:0003271Visceromegaly0TREX1 CL E G H1127712269OMIM:225750Aicardi-Goutieres syndrome 156
HP:0003271HP:0003271Visceromegaly0TRIM37 CL E G H45917523ORPHA:2576Mulibrey nanism78
HP:0003271HP:0003271Visceromegaly0TRIM37 CL E G H45917523OMIM:253250Mulibrey nanism78
HP:0003271HP:0003271Visceromegaly0TRMU CL E G H5568725481OMIM:613070Liver failure, infantile, transient101
HP:0003271HP:0003271Visceromegaly0TRMU CL E G H5568725481ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiency101
HP:0003271HP:0003271Visceromegaly0TRNE CL E G H45567479ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
HP:0003271HP:0003271Visceromegaly0TRNK CL E G H45667489ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0003271HP:0003271Visceromegaly0TRNL1 CL E G H45677490ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0003271HP:0003271Visceromegaly0TRNN CL E G H45707493OMIM:220110Mitochondrial complex IV deficiency
HP:0003271HP:0003271Visceromegaly0TRNS1 CL E G H45747497OMIM:220110Mitochondrial complex IV deficiency
HP:0003271HP:0003271Visceromegaly0TRNT1 CL E G H5109517341OMIM:616084SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD28
HP:0003271HP:0003271Visceromegaly0TRNV CL E G H45777500ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0003271HP:0003271Visceromegaly0TRNW CL E G H45787501ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0003271HP:0003271Visceromegaly0TRPV6 CL E G H5550314006ORPHA:417Neonatal severe primary hyperparathyroidism4
HP:0003271HP:0003271Visceromegaly0TSFM CL E G H1010212367OMIM:610505Combined oxidative phosphorylation deficiency 343
HP:0003271HP:0003271Visceromegaly0TTC26 CL E G H7998921882OMIM:619534BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0003271HP:0003271Visceromegaly0TUFM CL E G H728412420OMIM:610678Combined oxidative phosphorylation deficiency 455
HP:0003271HP:0003271Visceromegaly0TULP3 CL E G H728912425OMIM:619902
HP:0003271HP:0003271Visceromegaly0TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenita1
HP:0003271HP:0003271Visceromegaly0UBAC2 CL E G H33786720486ORPHA:117Behçet disease
HP:0003271HP:0003271Visceromegaly0UCP2 CL E G H735112518ORPHA:276556Hyperinsulinism due to UCP2 deficiency15
HP:0003271HP:0003271Visceromegaly0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndrome
HP:0003271HP:0003271Visceromegaly0UMPS CL E G H737212563ORPHA:30Hereditary orotic aciduria135
HP:0003271HP:0003271Visceromegaly0UNC13D CL E G H20129423147ORPHA:540Familial hemophagocytic lymphohistiocytosis116
HP:0003271HP:0003271Visceromegaly0UNC13D CL E G H20129423147OMIM:608898HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3116
HP:0003271HP:0003271Visceromegaly0UQCRB CL E G H738112582OMIM:615158Mitochondrial complex III deficiency, nuclear type 313
HP:0003271HP:0003271Visceromegaly0UROD CL E G H738912591ORPHA:95159Hepatoerythropoietic porphyria31
HP:0003271HP:0003271Visceromegaly0UROS CL E G H739012592ORPHA:79277Congenital erythropoietic porphyria41
HP:0003271HP:0003271Visceromegaly0UROS CL E G H739012592OMIM:263700Porphyria, congenital erythropoietic41
HP:0003271HP:0003271Visceromegaly0USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenita8
HP:0003271HP:0003271Visceromegaly0USB1 CL E G H7965025792OMIM:604173Poikiloderma with neutropenia8
HP:0003271HP:0003271Visceromegaly0USP18 CL E G H1127412616OMIM:617397Pseudo-Torch syndrome 22
HP:0003271HP:0003271Visceromegaly0USP53 CL E G H5453229255OMIM:619658CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS; PFIC7
HP:0003271HP:0003271Visceromegaly0VIPAS39 CL E G H6389420347OMIM:613404Arthrogryposis, renal dysfunction, and cholestasis 227
HP:0003271HP:0003271Visceromegaly0VPS13A CL E G H232301908ORPHA:2388Choreoacanthocytosis130
HP:0003271HP:0003271Visceromegaly0VPS33A CL E G H6508218179ORPHA:505248Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders1
HP:0003271HP:0003271Visceromegaly0VPS33A CL E G H6508218179OMIM:617303Mucopolysaccharidosis-Plus syndrome1
HP:0003271HP:0003271Visceromegaly0VPS33B CL E G H2627612712OMIM:62001063
HP:0003271HP:0003271Visceromegaly0VPS45 CL E G H1131114579OMIM:615285Neutropenia, severe congenital, 5, autosomal recessive7
HP:0003271HP:0003271Visceromegaly0VPS4A CL E G H2718313488OMIM:619273CIMDAG SYNDROME; CIMDAG1
HP:0003271HP:0003271Visceromegaly0WDR1 CL E G H994812754OMIM:150550Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0003271HP:0003271Visceromegaly0WDR19 CL E G H5772818340OMIM:614376Short-Rib thoracic dysplasia 5 with or without polydactyly95
HP:0003271HP:0003271Visceromegaly0WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2136
HP:0003271HP:0003271Visceromegaly0WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenita40
HP:0003271HP:0003271Visceromegaly0WT1 CL E G H749012796ORPHA:83469Desmoplastic small round cell tumor177
HP:0003271HP:0003271Visceromegaly0XIAP CL E G H331592OMIM:308240Lymphoproliferative syndrome, X-linked, 181
HP:0003271HP:0003271Visceromegaly0XIAP CL E G H331592OMIM:300635Lymphoproliferative syndrome, X-linked, 281
HP:0003271HP:0003271Visceromegaly0XK CL E G H750412811OMIM:300842Mcleod syndrome8
HP:0003271HP:0003271Visceromegaly0XPR1 CL E G H921312827ORPHA:1980Bilateral striopallidodentate calcinosis4
HP:0003271HP:0003271Visceromegaly0XRCC4 CL E G H751812831ORPHA:99812LIG4 syndrome9
HP:0003271HP:0003271Visceromegaly0XYLT1 CL E G H6413115516ORPHA:370930XYLT1-CDG14
HP:0003271HP:0003271Visceromegaly0YARS1 CL E G H856512840OMIM:619418NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0003271HP:0003271Visceromegaly0YARS2 CL E G H5106724249OMIM:613561Myopathy, lactic acidosis, and sideroblastic anemia 245
HP:0003271HP:0003271Visceromegaly0ZAP70 CL E G H753512858ORPHA:911Combined immunodeficiency due to ZAP70 deficiency46
HP:0003271HP:0003271Visceromegaly0ZAP70 CL E G H753512858OMIM:269840SELECTIVE T-CELL DEFECT46
HP:0003271HP:0003271Visceromegaly0ZFYVE19 CL E G H8493620758OMIM:619849
HP:0003271HP:0003271Visceromegaly0ZIC3 CL E G H754712874OMIM:306955Heterotaxy, visceral, 1, X-linked39
HP:0003271HP:0003271Visceromegaly0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0003271HP:0003271Visceromegaly0ZNFX1 CL E G H5716929271OMIM:619644IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0003271HP:0001744Splenomegaly1ABCA1 CL E G H1929OMIM:205400Tangier disease.191
HP:0003271HP:0001744Splenomegaly1ABCA1 CL E G H1929ORPHA:31150Tangier disease191
HP:0003271HP:0002240Hepatomegaly1ABCA1 CL E G H1929ORPHA:31150Tangier disease191
HP:0003271HP:0002240Hepatomegaly1ABCA1 CL E G H1929OMIM:205400Tangier disease.191
HP:0003271HP:0002240Hepatomegaly1ABCB11 CL E G H864742OMIM:605479Cholestasis, benign recurrent intrahepatic, 2.146
HP:0003271HP:0001744Splenomegaly1ABCB11 CL E G H864742OMIM:601847Cholestasis, progressive familial intrahepatic 2.146
HP:0003271HP:0002240Hepatomegaly1ABCB11 CL E G H864742OMIM:601847Cholestasis, progressive familial intrahepatic 2.146
HP:0003271HP:0002240Hepatomegaly1ABCB4 CL E G H524445OMIM:602347Cholestasis, progressive familial intrahepatic, 3.111
HP:0003271HP:0001744Splenomegaly1ABCB4 CL E G H524445OMIM:602347Cholestasis, progressive familial intrahepatic, 3.111
HP:0003271HP:0002240Hepatomegaly1ABCC2 CL E G H124453ORPHA:234Dubin-Johnson syndromeHP:0040283 - Occasional119
HP:0003271HP:0002240Hepatomegaly1ABCC8 CL E G H683359ORPHA:276575Autosomal dominant hyperinsulinism due to SUR1 deficiencyHP:0040283 - Occasional245
HP:0003271HP:0001744Splenomegaly1ABCD3 CL E G H582567OMIM:616278BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS55
HP:0003271HP:0002240Hepatomegaly1ABCD3 CL E G H582567OMIM:616278BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS55
HP:0003271HP:0001744Splenomegaly1ABCG8 CL E G H6424113887OMIM:210250Sitosterolemia 1.76
HP:0003271HP:0002240Hepatomegaly1ABHD5 CL E G H5109921396OMIM:275630Chanarin-Dorfman syndrome.90
HP:0003271HP:0002240Hepatomegaly1ABHD5 CL E G H5109921396ORPHA:98907Neutral lipid storage disease with ichthyosisHP:0040282 - Frequent90
HP:0003271HP:0001744Splenomegaly1ABL1 CL E G H2576ORPHA:521Chronic myeloid leukemiaHP:0040282 - Frequent51
HP:0003271HP:0002240Hepatomegaly1ACADM CL E G H3489OMIM:201450Acyl-Coa dehydrogenase, medium-chain, deficiency of.197
HP:0003271HP:0002240Hepatomegaly1ACADM CL E G H3489ORPHA:42Medium chain acyl-CoA dehydrogenase deficiencyHP:0040282 - Frequent197
HP:0003271HP:0002240Hepatomegaly1ACADVL CL E G H3792ORPHA:26793Very long chain acyl-CoA dehydrogenase deficiencyHP:0040283 - Occasional200
HP:0003271HP:0002240Hepatomegaly1ACADVL CL E G H3792OMIM:201475Very long-chain acyl-CoA dehydrogenase deficiency200
HP:0003271HP:0002240Hepatomegaly1ACAT1 CL E G H3893ORPHA:134Beta-ketothiolase deficiencyHP:0040283 - Occasional91
HP:0003271HP:0002240Hepatomegaly1ACOX1 CL E G H51119ORPHA:2971Peroxisomal acyl-CoA oxidase deficiencyHP:0040282 - Frequent120
HP:0003271HP:0002240Hepatomegaly1ACOX1 CL E G H51119OMIM:264470Peroxisomal acyl-coa oxidase deficiency.120
HP:0003271HP:0002240Hepatomegaly1ADA CL E G H100186ORPHA:39041Omenn syndromeHP:0040281 - Very frequent75
HP:0003271HP:0001744Splenomegaly1ADA CL E G H100186ORPHA:39041Omenn syndromeHP:0040282 - Frequent75
HP:0003271HP:0001744Splenomegaly1ADA 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:0003271HP:0002240Hepatomegaly1ADA 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:0003271HP:0001744Splenomegaly1ADA2 CL E G H518161839OMIM:615688Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome22
HP:0003271HP:0002240Hepatomegaly1ADA2 CL E G H518161839OMIM:615688Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome22
HP:0003271HP:0001744Splenomegaly1ADAMTS3 CL E G H9508219ORPHA:2136Hennekam syndromeHP:0040282 - Frequent1
HP:0003271HP:0002240Hepatomegaly1ADAMTSL2 CL E G H971914631OMIM:231050Geleophysic dysplasia 1.72
HP:0003271HP:0001744Splenomegaly1ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndrome116
HP:0003271HP:0002240Hepatomegaly1ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndrome116
HP:0003271HP:0002240Hepatomegaly1ADAR CL E G H103225OMIM:615010Aicardi-Goutieres syndrome 6116
HP:0003271HP:0001744Splenomegaly1ADAR CL E G H103225OMIM:615010Aicardi-Goutieres syndrome 6116
HP:0003271HP:0001744Splenomegaly1AFF4 CL E G H2712517869OMIM:616368CHOPS syndrome6
HP:0003271HP:0001744Splenomegaly1AGA CL E G H175318ORPHA:93AspartylglucosaminuriaHP:0040283 - Occasional76
HP:0003271HP:0002240Hepatomegaly1AGA CL E G H175318ORPHA:93AspartylglucosaminuriaHP:0040283 - Occasional76
HP:0003271HP:0002240Hepatomegaly1AGA CL E G H175318OMIM:208400ASPARTYLGLUCOSAMINURIA.76
HP:0003271HP:0002240Hepatomegaly1AGGF1 CL E G H5510924684ORPHA:90308Klippel-Trénaunay syndromeHP:0040283 - Occasional1
HP:0003271HP:0002240Hepatomegaly1AGL CL E G H178321OMIM:232400Glycogen storage disease III.216
HP:0003271HP:0002240Hepatomegaly1AGPAT2 CL E G H10555325ORPHA:528Congenital generalized lipodystrophyHP:0040281 - Very frequent85
HP:0003271HP:0001744Splenomegaly1AGPAT2 CL E G H10555325OMIM:608594Lipodystrophy, congenital generalized, type 1.85
HP:0003271HP:0002240Hepatomegaly1AGPAT2 CL E G H10555325OMIM:608594Lipodystrophy, congenital generalized, type 1.85
HP:0003271HP:0002240Hepatomegaly1AKR1D1 CL E G H6718388OMIM:235555Bile acid synthesis defect, congenital, 2.62
HP:0003271HP:0001744Splenomegaly1AKR1D1 CL E G H6718388OMIM:235555Bile acid synthesis defect, congenital, 2.62
HP:0003271HP:0002240Hepatomegaly1AKR1D1 CL E G H6718388ORPHA:79303Congenital bile acid synthesis defect type 2HP:0040281 - Very frequent62
HP:0003271HP:0001744Splenomegaly1AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040283 - Occasional54
HP:0003271HP:0001744Splenomegaly1AKT1 CL E G H207391OMIM:176920Proteus syndrome, somatic.54
HP:0003271HP:0002240Hepatomegaly1AKT2 CL E G H208392ORPHA:79085AKT2-related familial partial lipodystrophyHP:0040281 - Very frequent12
HP:0003271HP:0001744Splenomegaly1ALAS2 CL E G H212397ORPHA:75563X-linked sideroblastic anemiaHP:0040283 - Occasional72
HP:0003271HP:0002240Hepatomegaly1ALDH1A2 CL E G H885415472OMIM:620025
HP:0003271HP:0002240Hepatomegaly1ALDOA CL E G H226414OMIM:611881Glycogen storage disease XII50
HP:0003271HP:0001744Splenomegaly1ALDOA CL E G H226414OMIM:611881Glycogen storage disease XII.50
HP:0003271HP:0002240Hepatomegaly1ALDOB CL E G H229417OMIM:229600Fructose intolerance, hereditary.73
HP:0003271HP:0002240Hepatomegaly1ALDOB CL E G H229417ORPHA:469Hereditary fructose intoleranceHP:0040283 - Occasional73
HP:0003271HP:0001744Splenomegaly1ALG1 CL E G H5605218294OMIM:608540Congenital disorder of glycosylation, type Ik.58
HP:0003271HP:0002240Hepatomegaly1ALG1 CL E G H5605218294OMIM:608540Congenital disorder of glycosylation, type Ik.58
HP:0003271HP:0002240Hepatomegaly1ALG13 CL E G H7986830881OMIM:300884Epileptic encephalopathy, early infantile, 36.96
HP:0003271HP:0002240Hepatomegaly1ALG2 CL E G H8536523159ORPHA:79326ALG2-CDGHP:0040283 - Occasional46
HP:0003271HP:0002240Hepatomegaly1ALG2 CL E G H8536523159OMIM:607906Congenital disorder of glycosylation, type Ii.46
HP:0003271HP:0002240Hepatomegaly1ALG8 CL E G H7905323161OMIM:608104Congenital disorder of glycosylation, type Ih.46
HP:0003271HP:0002240Hepatomegaly1ALG9 CL E G H7979615672ORPHA:79328ALG9-CDGHP:0040282 - Frequent93
HP:0003271HP:0001744Splenomegaly1ALG9 CL E G H7979615672OMIM:608776Congenital disorder of glycosylation, type Il93
HP:0003271HP:0002240Hepatomegaly1ALG9 CL E G H7979615672OMIM:608776Congenital disorder of glycosylation, type Il.93
HP:0003271HP:0001744Splenomegaly1ALMS1 CL E G H7840428ORPHA:64Alström syndromeHP:0040283 - Occasional404
HP:0003271HP:0002240Hepatomegaly1ALMS1 CL E G H7840428ORPHA:64Alström syndromeHP:0040283 - Occasional404
HP:0003271HP:0002240Hepatomegaly1ALMS1 CL E G H7840428OMIM:203800Alstrom syndrome.404
HP:0003271HP:0001744Splenomegaly1ALPK1 CL E G H8021620917OMIM:614979Splenomegaly, cytopenia, and vision loss.
HP:0003271HP:0002240Hepatomegaly1AMACR CL E G H23600451OMIM:214950Bile acid synthesis defect, congenital, 4.44
HP:0003271HP:0001744Splenomegaly1ANK1 CL E G H286492ORPHA:2510668p11.2 deletion syndromeHP:0040283 - Occasional150
HP:0003271HP:0001744Splenomegaly1ANK1 CL E G H286492ORPHA:822Hereditary spherocytosisHP:0040282 - Frequent150
HP:0003271HP:0002240Hepatomegaly1ANK1 CL E G H286492ORPHA:822Hereditary spherocytosisHP:0040282 - Frequent150
HP:0003271HP:0001744Splenomegaly1ANK1 CL E G H286492OMIM:182900Spherocytosis, type 1.150
HP:0003271HP:0002240Hepatomegaly1ANKRD55 CL E G H7972225681ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0003271HP:0001744Splenomegaly1ANKRD55 CL E G H7972225681ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0003271HP:0002240Hepatomegaly1ANTXR1 CL E G H8416821014OMIM:230740Gapo syndrome.8
HP:0003271HP:0001744Splenomegaly1AP3B1 CL E G H8546566OMIM:608233Hermansky-Pudlak syndrome 283
HP:0003271HP:0002240Hepatomegaly1AP3B1 CL E G H8546566OMIM:608233Hermansky-Pudlak syndrome 283
HP:0003271HP:0001744Splenomegaly1AP3D1 CL E G H8943568OMIM:617050HERMANSKY-PUDLAK SYNDROME 10; HPS101
HP:0003271HP:0002240Hepatomegaly1AP3D1 CL E G H8943568OMIM:617050HERMANSKY-PUDLAK SYNDROME 10; HPS101
HP:0003271HP:0002240Hepatomegaly1APOA1 CL E G H335600OMIM:105200Amyloidosis, familial visceral.40
HP:0003271HP:0001744Splenomegaly1APOA1 CL E G H335600OMIM:105200Amyloidosis, familial visceral.40
HP:0003271HP:0002240Hepatomegaly1APOC2 CL E G H344609OMIM:207750APOLIPOPROTEIN C-II DEFICIENCY27
HP:0003271HP:0001744Splenomegaly1APOC2 CL E G H344609OMIM:207750APOLIPOPROTEIN C-II DEFICIENCY27
HP:0003271HP:0002240Hepatomegaly1APOE CL E G H348613ORPHA:412DysbetalipoproteinemiaHP:0040282 - Frequent39
HP:0003271HP:0001744Splenomegaly1APOE CL E G H348613OMIM:269600Sea-Blue histiocyte disease.39
HP:0003271HP:0002240Hepatomegaly1APOE CL E G H348613ORPHA:158029Sea-blue histiocytosisHP:0040281 - Very frequent39
HP:0003271HP:0001744Splenomegaly1APOE CL E G H348613ORPHA:158029Sea-blue histiocytosisHP:0040281 - Very frequent39
HP:0003271HP:0002240Hepatomegaly1ARG1 CL E G H383663OMIM:207800Argininemia31
HP:0003271HP:0002240Hepatomegaly1ARL13B CL E G H20089425419OMIM:612291JOUBERT SYNDROME 8; JBTS862
HP:0003271HP:0001744Splenomegaly1ARSB CL E G H411714OMIM:253200Mucopolysaccharidosis, type VI.120
HP:0003271HP:0002240Hepatomegaly1ARSB CL E G H411714OMIM:253200Mucopolysaccharidosis, type VI.120
HP:0003271HP:0001744Splenomegaly1ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional1
HP:0003271HP:0001744Splenomegaly1ASAH1 CL E G H427735ORPHA:333Farber disease78
HP:0003271HP:0002240Hepatomegaly1ASAH1 CL E G H427735ORPHA:333Farber disease78
HP:0003271HP:0001744Splenomegaly1ASAH1 CL E G H427735OMIM:228000Farber lipogranulomatosis.78
HP:0003271HP:0002240Hepatomegaly1ASAH1 CL E G H427735OMIM:228000Farber lipogranulomatosis.78
HP:0003271HP:0002240Hepatomegaly1ASL CL E G H435746OMIM:207900Argininosuccinic aciduria.81
HP:0003271HP:0002240Hepatomegaly1ASS1 CL E G H445758OMIM:215700Citrullinemia, classic.119
HP:0003271HP:0002240Hepatomegaly1ASXL1 CL E G H17102318318ORPHA:98850Aggressive systemic mastocytosis145
HP:0003271HP:0001744Splenomegaly1ASXL1 CL E G H17102318318ORPHA:98850Aggressive systemic mastocytosis145
HP:0003271HP:0001744Splenomegaly1ASXL1 CL E G H17102318318ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040283 - Occasional145
HP:0003271HP:0002240Hepatomegaly1ASXL1 CL E G H17102318318ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040283 - Occasional145
HP:0003271HP:0002240Hepatomegaly1ATAD3A CL E G H5521025567OMIM:618810PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL5
HP:0003271HP:0001744Splenomegaly1ATM CL E G H472795ORPHA:52416Mantle cell lymphomaHP:0040282 - Frequent3267
HP:0003271HP:0002240Hepatomegaly1ATP6 CL E G H45087414ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0003271HP:0001744Splenomegaly1ATP6AP1 CL E G H537868OMIM:300972IMMUNODEFICIENCY 47; IMD475
HP:0003271HP:0002240Hepatomegaly1ATP6AP1 CL E G H537868OMIM:300972IMMUNODEFICIENCY 47; IMD475
HP:0003271HP:0002240Hepatomegaly1ATP6AP2 CL E G H1015918305OMIM:301045CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R36
HP:0003271HP:0002240Hepatomegaly1ATP6V1B2 CL E G H526854ORPHA:3473Zimmermann-Laband syndromeHP:0040283 - Occasional5
HP:0003271HP:0001744Splenomegaly1ATP6V1B2 CL E G H526854ORPHA:3473Zimmermann-Laband syndromeHP:0040283 - Occasional5
HP:0003271HP:0002240Hepatomegaly1ATP7B CL E G H540870OMIM:277900Wilson disease.315
HP:0003271HP:0001744Splenomegaly1ATP7B CL E G H540870OMIM:277900Wilson disease315
HP:0003271HP:0002240Hepatomegaly1ATP7B CL E G H540870ORPHA:905Wilson diseaseHP:0040281 - Very frequent315
HP:0003271HP:0001744Splenomegaly1ATP7B CL E G H540870ORPHA:905Wilson diseaseHP:0040281 - Very frequent315
HP:0003271HP:0002240Hepatomegaly1ATP8B1 CL E G H52053706OMIM:243300Cholestasis, benign recurrent intrahepatic 1.144
HP:0003271HP:0002240Hepatomegaly1ATP8B1 CL E G H52053706OMIM:211600Cholestasis, progressive familial intrahepatic 1144
HP:0003271HP:0001744Splenomegaly1ATP8B1 CL E G H52053706OMIM:211600Cholestasis, progressive familial intrahepatic 1144
HP:0003271HP:0002240Hepatomegaly1ATPAF2 CL E G H9164718802OMIM:604273Mitochondrial complex V (atp synthase) deficiency, nuclear type 1.32
HP:0003271HP:0001744Splenomegaly1ATRX CL E G H546886ORPHA:231401Alpha-thalassemia-myelodysplastic syndromeHP:0040283 - Occasional169
HP:0003271HP:0002240Hepatomegaly1ATRX CL E G H546886ORPHA:100075Neuroendocrine tumor of stomachHP:0040283 - Occasional169
HP:0003271HP:0002240Hepatomegaly1AUH CL E G H549890ORPHA:670463-methylglutaconic aciduria type 1HP:0040283 - Occasional49
HP:0003271HP:0001744Splenomegaly1B2M CL E G H567914OMIM:105200Amyloidosis, familial visceral.8
HP:0003271HP:0002240Hepatomegaly1B2M CL E G H567914OMIM:105200Amyloidosis, familial visceral.8
HP:0003271HP:0001744Splenomegaly1B4GALT1 CL E G H2683924ORPHA:79332B4GALT1-CDG85
HP:0003271HP:0002240Hepatomegaly1B4GALT1 CL E G H2683924ORPHA:79332B4GALT1-CDG85
HP:0003271HP:0002240Hepatomegaly1BAAT CL E G H570932OMIM:619232BILE ACID CONJUGATION DEFECT 1; BACD163
HP:0003271HP:0001744Splenomegaly1BACH2 CL E G H6046814078OMIM:618394IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0003271HP:0002240Hepatomegaly1BAP1 CL E G H8314950ORPHA:50251Pleural mesotheliomaHP:0040283 - Occasional184
HP:0003271HP:0001744Splenomegaly1BCL11A CL E G H5333513221ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome11
HP:0003271HP:0001744Splenomegaly1BCL2 CL E G H596990ORPHA:545Follicular lymphomaHP:0040282 - Frequent1
HP:0003271HP:0001744Splenomegaly1BCL6 CL E G H6041001ORPHA:545Follicular lymphomaHP:0040282 - Frequent1
HP:0003271HP:0001744Splenomegaly1BCR CL E G H6131014ORPHA:521Chronic myeloid leukemiaHP:0040282 - Frequent5
HP:0003271HP:0002240Hepatomegaly1BMP2 CL E G H6501069OMIM:235200Hemochromatosis, type 1.13
HP:0003271HP:0001744Splenomegaly1BMP2 CL E G H6501069OMIM:235200Hemochromatosis, type 1.13
HP:0003271HP:0001744Splenomegaly1BMP6 CL E G H6541073ORPHA:465508Symptomatic form of hemochromatosis type 1HP:0040283 - Occasional
HP:0003271HP:0002240Hepatomegaly1BMP6 CL E G H6541073ORPHA:465508Symptomatic form of hemochromatosis type 1HP:0040282 - Frequent
HP:0003271HP:0002240Hepatomegaly1BOLA3 CL E G H38896224415OMIM:614299Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia.14
HP:0003271HP:0001744Splenomegaly1BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1.276
HP:0003271HP:0001744Splenomegaly1BRCA1 CL E G H6721100ORPHA:1333Familial pancreatic carcinoma5769
HP:0003271HP:0002240Hepatomegaly1BRCA1 CL E G H6721100ORPHA:1333Familial pancreatic carcinoma5769
HP:0003271HP:0002240Hepatomegaly1BRCA2 CL E G H6751101ORPHA:1333Familial pancreatic carcinoma7642
HP:0003271HP:0001744Splenomegaly1BRCA2 CL E G H6751101ORPHA:1333Familial pancreatic carcinoma7642
HP:0003271HP:0002240Hepatomegaly1BSCL2 CL E G H2658015832ORPHA:528Congenital generalized lipodystrophyHP:0040281 - Very frequent105
HP:0003271HP:0002240Hepatomegaly1BSCL2 CL E G H2658015832OMIM:615924Encephalopathy, progressive, with or without lipodystrophyHP:0040283 - Occasional105
HP:0003271HP:0001744Splenomegaly1BSCL2 CL E G H2658015832OMIM:269700Lipodystrophy, congenital generalized, type 2.105
HP:0003271HP:0002240Hepatomegaly1BSCL2 CL E G H2658015832OMIM:269700Lipodystrophy, congenital generalized, type 2.105
HP:0003271HP:0002240Hepatomegaly1BSCL2 CL E G H2658015832ORPHA:363400Severe neurodegenerative syndrome with lipodystrophyHP:0040283 - Occasional105
HP:0003271HP:0002240Hepatomegaly1BTD CL E G H6861122OMIM:253260Biotinidase deficiencymultiple carboxylase deficiency, late-onset.223
HP:0003271HP:0001744Splenomegaly1BTD CL E G H6861122OMIM:253260Biotinidase deficiencymultiple carboxylase deficiency, late-onset.223
HP:0003271HP:0002240Hepatomegaly1BTNL2 CL E G H562441142ORPHA:797SarcoidosisHP:0040283 - Occasional1
HP:0003271HP:0001744Splenomegaly1BTNL2 CL E G H562441142OMIM:612387Sarcoidosis, susceptibility to, 2.1
HP:0003271HP:0002240Hepatomegaly1BTNL2 CL E G H562441142OMIM:612387Sarcoidosis, susceptibility to, 2.1
HP:0003271HP:0002240Hepatomegaly1C1QBP CL E G H7081243OMIM:617713Combined oxidative phosphorylation deficiency 33HP:0040284 - Very rare
HP:0003271HP:0002240Hepatomegaly1C2ORF69 CL E G H20532726799OMIM:619423COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0003271HP:0001744Splenomegaly1C4A CL E G H7201323ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0003271HP:0002240Hepatomegaly1CA2 CL E G H7601373ORPHA:2785Osteopetrosis with renal tubular acidosisHP:0040281 - Very frequent29
HP:0003271HP:0001744Splenomegaly1CA2 CL E G H7601373OMIM:259730Osteopetrosis, autosomal recessive 329
HP:0003271HP:0002240Hepatomegaly1CA2 CL E G H7601373OMIM:259730Osteopetrosis, autosomal recessive 329
HP:0003271HP:0002240Hepatomegaly1CALR CL E G H8111455ORPHA:131Budd-Chiari syndromeHP:0040282 - Frequent1
HP:0003271HP:0001744Splenomegaly1CALR CL E G H8111455ORPHA:131Budd-Chiari syndromeHP:0040281 - Very frequent1
HP:0003271HP:0001744Splenomegaly1CALR CL E G H8111455ORPHA:3318Essential thrombocythemiaHP:0040282 - Frequent1
HP:0003271HP:0001744Splenomegaly1CALR CL E G H8111455OMIM:254450Myelofibrosismyelofibrosis with myeloid metaplasia, included1
HP:0003271HP:0002240Hepatomegaly1CALR CL E G H8111455ORPHA:824Primary myelofibrosisHP:0040282 - Frequent1
HP:0003271HP:0001744Splenomegaly1CALR CL E G H8111455ORPHA:824Primary myelofibrosisHP:0040282 - Frequent1
HP:0003271HP:0001744Splenomegaly1CALR CL E G H8111455OMIM:187950THROMBOCYTHEMIA 1; THCYT11
HP:0003271HP:0001744Splenomegaly1CARD11 CL E G H8443316393OMIM:616452B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA45
HP:0003271HP:0001744Splenomegaly1CASK CL E G H85731497OMIM:300908Anemia, nonspherocytic hemolytic, due to g6pd deficiencyHP:0040284 - Very rare118
HP:0003271HP:0002240Hepatomegaly1CASP10 CL E G H8431500ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040282 - Frequent87
HP:0003271HP:0001744Splenomegaly1CASP10 CL E G H8431500ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040281 - Very frequent87
HP:0003271HP:0002240Hepatomegaly1CASP10 CL E G H8431500OMIM:603909Autoimmune lymphoproliferative syndrome, type IIA87
HP:0003271HP:0001744Splenomegaly1CASP10 CL E G H8431500OMIM:603909Autoimmune lymphoproliferative syndrome, type IIA87
HP:0003271HP:0001744Splenomegaly1CASP8 CL E G H8411509OMIM:607271CASPASE 8 DEFICIENCY37
HP:0003271HP:0001744Splenomegaly1CASR CL E G H8461514OMIM:239200Hyperparathyroidism, neonatal severe.272
HP:0003271HP:0002240Hepatomegaly1CASR CL E G H8461514OMIM:239200Hyperparathyroidism, neonatal severe.272
HP:0003271HP:0002240Hepatomegaly1CASR CL E G H8461514ORPHA:417Neonatal severe primary hyperparathyroidismHP:0040281 - Very frequent272
HP:0003271HP:0001744Splenomegaly1CASR CL E G H8461514ORPHA:417Neonatal severe primary hyperparathyroidismHP:0040281 - Very frequent272
HP:0003271HP:0002240Hepatomegaly1CAV1 CL E G H8571527ORPHA:528Congenital generalized lipodystrophyHP:0040281 - Very frequent11
HP:0003271HP:0002240Hepatomegaly1CAV1 CL E G H8571527OMIM:612526Lipodystrophy, congenital generalized, type 3.11
HP:0003271HP:0001744Splenomegaly1CAV1 CL E G H8571527OMIM:612526Lipodystrophy, congenital generalized, type 3.11
HP:0003271HP:0002240Hepatomegaly1CAVIN1 CL E G H2841199688ORPHA:528Congenital generalized lipodystrophyHP:0040281 - Very frequent48
HP:0003271HP:0002240Hepatomegaly1CAVIN1 CL E G H2841199688OMIM:613327Lipodystrophy, congenital generalized, type 4.48
HP:0003271HP:0001744Splenomegaly1CAVIN1 CL E G H2841199688OMIM:613327Lipodystrophy, congenital generalized, type 4.48
HP:0003271HP:0001744Splenomegaly1CBL CL E G H8671541ORPHA:98850Aggressive systemic mastocytosis317
HP:0003271HP:0002240Hepatomegaly1CBL CL E G H8671541ORPHA:98850Aggressive systemic mastocytosis317
HP:0003271HP:0002240Hepatomegaly1CBL CL E G H8671541ORPHA:648Noonan syndromeHP:0040282 - Frequent317
HP:0003271HP:0002240Hepatomegaly1CBS CL E G H8751550ORPHA:394Classic homocystinuriaHP:0040283 - Occasional242
HP:0003271HP:0001744Splenomegaly1CC2D2A CL E G H5754529253ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional247
HP:0003271HP:0002240Hepatomegaly1CC2D2A CL E G H5754529253ORPHA:1454Joubert syndrome with hepatic defectHP:0040281 - Very frequent247
HP:0003271HP:0001744Splenomegaly1CCBE1 CL E G H14737229426ORPHA:2136Hennekam syndromeHP:0040282 - Frequent147
HP:0003271HP:0001744Splenomegaly1CCDC115 CL E G H8431728178OMIM:616828Congenital disorder of glycosylation, type IIO.3
HP:0003271HP:0002240Hepatomegaly1CCDC115 CL E G H8431728178OMIM:616828Congenital disorder of glycosylation, type IIO.3
HP:0003271HP:0001744Splenomegaly1CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndromeHP:0040284 - Very rare
HP:0003271HP:0002240Hepatomegaly1CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndromeHP:0040284 - Very rare
HP:0003271HP:0001744Splenomegaly1CCND1 CL E G H5951582ORPHA:52416Mantle cell lymphomaHP:0040282 - Frequent1
HP:0003271HP:0001744Splenomegaly1CCND1 CL E G H5951582ORPHA:29073Multiple myelomaHP:0040284 - Very rare1
HP:0003271HP:0001744Splenomegaly1CCR1 CL E G H12301602ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0003271HP:0001744Splenomegaly1CD19 CL E G H9301633ORPHA:1572Common variable immunodeficiencyHP:0040282 - Frequent38
HP:0003271HP:0002240Hepatomegaly1CD19 CL E G H9301633OMIM:240500Immunodeficiency, common variable, 2.38
HP:0003271HP:0001744Splenomegaly1CD19 CL E G H9301633OMIM:240500Immunodeficiency, common variable, 2.38
HP:0003271HP:0001744Splenomegaly1CD247 CL E G H9191677ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis8
HP:0003271HP:0002240Hepatomegaly1CD247 CL E G H9191677ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis8
HP:0003271HP:0002240Hepatomegaly1CD247 CL E G H9191677ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta8
HP:0003271HP:0001744Splenomegaly1CD247 CL E G H9191677ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta8
HP:0003271HP:0001744Splenomegaly1CD27 CL E G H93911922OMIM:615122Lymphoproliferative syndrome 24
HP:0003271HP:0002240Hepatomegaly1CD27 CL E G H93911922OMIM:615122Lymphoproliferative syndrome 24
HP:0003271HP:0001744Splenomegaly1CD28 CL E G H9401653ORPHA:2584Classic mycosis fungoidesHP:0040283 - Occasional
HP:0003271HP:0002240Hepatomegaly1CD28 CL E G H9401653ORPHA:2584Classic mycosis fungoidesHP:0040283 - Occasional
HP:0003271HP:0002240Hepatomegaly1CD28 CL E G H9401653ORPHA:3162Sézary syndromeHP:0040282 - Frequent
HP:0003271HP:0001744Splenomegaly1CD28 CL E G H9401653ORPHA:3162Sézary syndromeHP:0040282 - Frequent
HP:0003271HP:0001744Splenomegaly1CD3D CL E G H9151673ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta18
HP:0003271HP:0002240Hepatomegaly1CD3D CL E G H9151673ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta18
HP:0003271HP:0001744Splenomegaly1CD3E CL E G H9161674ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta24
HP:0003271HP:0002240Hepatomegaly1CD3E CL E G H9161674ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta24
HP:0003271HP:0001744Splenomegaly1CD40LG CL E G H95911935OMIM:308230Immunodeficiency, X-linked, with hyper-IgM.33
HP:0003271HP:0002240Hepatomegaly1CD40LG CL E G H95911935OMIM:308230Immunodeficiency, X-linked, with hyper-IgM.33
HP:0003271HP:0002240Hepatomegaly1CD55 CL E G H16042665OMIM:226300Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy.9
HP:0003271HP:0001744Splenomegaly1CD70 CL E G H97011937OMIM:618261LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0003271HP:0002240Hepatomegaly1CD70 CL E G H97011937OMIM:618261LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0003271HP:0001744Splenomegaly1CD81 CL E G H9751701ORPHA:1572Common variable immunodeficiencyHP:0040282 - Frequent1
HP:0003271HP:0002240Hepatomegaly1CD81 CL E G H9751701OMIM:613496Immunodeficiency, common variable, 61
HP:0003271HP:0002240Hepatomegaly1CD96 CL E G H1022516892OMIM:211750C syndrome.83
HP:0003271HP:0002240Hepatomegaly1CDAN1 CL E G H1460591713OMIM:224120Anemia, congenital dyserythropoietic, type Ia86
HP:0003271HP:0001744Splenomegaly1CDAN1 CL E G H1460591713OMIM:224120Anemia, congenital dyserythropoietic, type Ia.86
HP:0003271HP:0002240Hepatomegaly1CDIN1 CL E G H8452926929OMIM:615631Anemia, congenital dyserythropoietic, type Ib.
HP:0003271HP:0001744Splenomegaly1CDIN1 CL E G H8452926929OMIM:615631Anemia, congenital dyserythropoietic, type Ib.
HP:0003271HP:0002240Hepatomegaly1CDKN1C CL E G H10281786OMIM:130650Beckwith-Wiedemann syndrome.114
HP:0003271HP:0001744Splenomegaly1CDKN2A CL E G H10291787ORPHA:1333Familial pancreatic carcinoma289
HP:0003271HP:0002240Hepatomegaly1CDKN2A CL E G H10291787ORPHA:1333Familial pancreatic carcinoma289
HP:0003271HP:0001744Splenomegaly1CFAP410 CL E G H7551260OMIM:602271Spondylometaphyseal dysplasia, axialHP:0040284 - Very rare
HP:0003271HP:0001744Splenomegaly1CFTR CL E G H10801884OMIM:219700Cystic fibrosis1371
HP:0003271HP:0002240Hepatomegaly1CFTR CL E G H10801884OMIM:219700Cystic fibrosis1371
HP:0003271HP:0001744Splenomegaly1CHD7 CL E G H5563620626ORPHA:39041Omenn syndromeHP:0040282 - Frequent515
HP:0003271HP:0002240Hepatomegaly1CHD7 CL E G H5563620626ORPHA:39041Omenn syndromeHP:0040281 - Very frequent515
HP:0003271HP:0002240Hepatomegaly1CIDEC CL E G H6392424229ORPHA:435651CIDEC-related familial partial lipodystrophyHP:0040281 - Very frequent8
HP:0003271HP:0002240Hepatomegaly1CIDEC CL E G H6392424229OMIM:615238Lipodystrophy, familial partial, type 5.8
HP:0003271HP:0001744Splenomegaly1CLCN7 CL E G H11862025ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent102
HP:0003271HP:0002240Hepatomegaly1CLCN7 CL E G H11862025ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent102
HP:0003271HP:0002240Hepatomegaly1CLCN7 CL E G H11862025OMIM:618541Hypopigmentation, organomegaly, and delayed myelination and development.102
HP:0003271HP:0001744Splenomegaly1CLCN7 CL E G H11862025OMIM:618541Hypopigmentation, organomegaly, and delayed myelination and development.102
HP:0003271HP:0001744Splenomegaly1CLCN7 CL E G H11862025ORPHA:210110Intermediate osteopetrosis102
HP:0003271HP:0002240Hepatomegaly1CLCN7 CL E G H11862025ORPHA:210110Intermediate osteopetrosis102
HP:0003271HP:0001744Splenomegaly1CLCN7 CL E G H11862025OMIM:611490Osteopetrosis, autosomal recessive 4.102
HP:0003271HP:0002240Hepatomegaly1CLCN7 CL E G H11862025OMIM:611490Osteopetrosis, autosomal recessive 4.102
HP:0003271HP:0002240Hepatomegaly1CLDN1 CL E G H90762032OMIM:607626Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis.11
HP:0003271HP:0001744Splenomegaly1CLDN1 CL E G H90762032ORPHA:59303Neonatal ichthyosis-sclerosing cholangitis syndromeHP:0040281 - Very frequent11
HP:0003271HP:0002240Hepatomegaly1CLDN1 CL E G H90762032ORPHA:59303Neonatal ichthyosis-sclerosing cholangitis syndromeHP:0040281 - Very frequent11
HP:0003271HP:0001744Splenomegaly1CLPB CL E G H8157030664OMIM:619813NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT; SCN938
HP:0003271HP:0002240Hepatomegaly1CNTNAP2 CL E G H2604713830ORPHA:163681CNTNAP2-related developmental and epileptic encephalopathy518
HP:0003271HP:0002240Hepatomegaly1COA8 CL E G H8433420492ORPHA:436271Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathyHP:0040282 - Frequent
HP:0003271HP:0001744Splenomegaly1COG1 CL E G H93826545ORPHA:263508COG1-CDG52
HP:0003271HP:0002240Hepatomegaly1COG1 CL E G H93826545ORPHA:263508COG1-CDG52
HP:0003271HP:0002240Hepatomegaly1COG4 CL E G H2583918620ORPHA:263501COG4-CDG67
HP:0003271HP:0001744Splenomegaly1COG4 CL E G H2583918620ORPHA:263501COG4-CDG67
HP:0003271HP:0002240Hepatomegaly1COG4 CL E G H2583918620OMIM:613489Congenital disorder of glycosylation, type IIjHP:0040283 - Occasional67
HP:0003271HP:0001744Splenomegaly1COG4 CL E G H2583918620OMIM:613489Congenital disorder of glycosylation, type IIjHP:0040283 - Occasional67
HP:0003271HP:0001744Splenomegaly1COG5 CL E G H1046614857ORPHA:263487COG5-CDG79
HP:0003271HP:0002240Hepatomegaly1COG5 CL E G H1046614857ORPHA:263487COG5-CDGHP:0040283 - Occasional79
HP:0003271HP:0002240Hepatomegaly1COG6 CL E G H5751118621OMIM:614576CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L71
HP:0003271HP:0001744Splenomegaly1COG6 CL E G H5751118621OMIM:614576CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L71
HP:0003271HP:0002240Hepatomegaly1COG7 CL E G H9194918622ORPHA:79333COG7-CDG64
HP:0003271HP:0001744Splenomegaly1COG7 CL E G H9194918622ORPHA:79333COG7-CDG64
HP:0003271HP:0001744Splenomegaly1COG7 CL E G H9194918622OMIM:608779Congenital disorder of glycosylation, type IIe.64
HP:0003271HP:0002240Hepatomegaly1COG7 CL E G H9194918622OMIM:608779Congenital disorder of glycosylation, type IIe.64
HP:0003271HP:0001744Splenomegaly1COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional6
HP:0003271HP:0001744Splenomegaly1COX10 CL E G H13522260OMIM:619046MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN382
HP:0003271HP:0002240Hepatomegaly1COX14 CL E G H8498728216OMIM:619053MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN104
HP:0003271HP:0001744Splenomegaly1COX4I2 CL E G H8470116232OMIM:612714Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis.13
HP:0003271HP:0002240Hepatomegaly1COX4I2 CL E G H8470116232OMIM:612714Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis.13
HP:0003271HP:0002240Hepatomegaly1COX5A CL E G H93772267OMIM:619064MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0003271HP:0002240Hepatomegaly1CPOX CL E G H13712321OMIM:121300Coproporphyria.72
HP:0003271HP:0001744Splenomegaly1CPOX CL E G H13712321OMIM:121300Coproporphyria.72
HP:0003271HP:0001744Splenomegaly1CPOX CL E G H13712321OMIM:618892Harderoporphyria.72
HP:0003271HP:0002240Hepatomegaly1CPOX CL E G H13712321OMIM:618892Harderoporphyria.72
HP:0003271HP:0002240Hepatomegaly1CPT1A CL E G H13742328ORPHA:156Carnitine palmitoyl transferase 1A deficiencyHP:0040282 - Frequent99
HP:0003271HP:0002240Hepatomegaly1CPT1A CL E G H13742328OMIM:255120Carnitine palmitoyltransferase I deficiency.99
HP:0003271HP:0002240Hepatomegaly1CPT2 CL E G H13762330ORPHA:228308Carnitine palmitoyl transferase II deficiency, neonatal formHP:0040282 - Frequent101
HP:0003271HP:0002240Hepatomegaly1CPT2 CL E G H13762330ORPHA:228305Carnitine palmitoyl transferase II deficiency, severe infantile formHP:0040283 - Occasional101
HP:0003271HP:0002240Hepatomegaly1CPT2 CL E G H13762330OMIM:600649Carnitine palmitoyltransferase II deficiency, infantile101
HP:0003271HP:0002240Hepatomegaly1CPT2 CL E G H13762330OMIM:608836Carnitine palmitoyltransferase II deficiency, lethal neonatal.101
HP:0003271HP:0001744Splenomegaly1CR2 CL E G H13802336ORPHA:1572Common variable immunodeficiencyHP:0040282 - Frequent10
HP:0003271HP:0001744Splenomegaly1CR2 CL E G H13802336OMIM:240500Immunodeficiency, common variable, 2.10
HP:0003271HP:0002240Hepatomegaly1CR2 CL E G H13802336OMIM:240500Immunodeficiency, common variable, 2.10
HP:0003271HP:0001744Splenomegaly1CR2 CL E G H13802336OMIM:614699IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID710
HP:0003271HP:0002240Hepatomegaly1CSF3R CL E G H14412439OMIM:162830Neutrophilia, hereditary34
HP:0003271HP:0001744Splenomegaly1CSF3R CL E G H14412439OMIM:162830Neutrophilia, hereditary34
HP:0003271HP:0002240Hepatomegaly1CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional160
HP:0003271HP:0001744Splenomegaly1CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional160
HP:0003271HP:0002240Hepatomegaly1CTLA4 CL E G H14932505OMIM:616100AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS510
HP:0003271HP:0001744Splenomegaly1CTLA4 CL E G H14932505OMIM:616100AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS510
HP:0003271HP:0002240Hepatomegaly1CTLA4 CL E G H14932505ORPHA:2584Classic mycosis fungoidesHP:0040283 - Occasional10
HP:0003271HP:0001744Splenomegaly1CTLA4 CL E G H14932505ORPHA:2584Classic mycosis fungoidesHP:0040283 - Occasional10
HP:0003271HP:0002240Hepatomegaly1CTLA4 CL E G H14932505ORPHA:3162Sézary syndromeHP:0040282 - Frequent10
HP:0003271HP:0001744Splenomegaly1CTLA4 CL E G H14932505ORPHA:3162Sézary syndromeHP:0040282 - Frequent10
HP:0003271HP:0002240Hepatomegaly1CTNNB1 CL E G H14992514ORPHA:33402Pediatric hepatocellular carcinomaHP:0040281 - Very frequent88
HP:0003271HP:0001744Splenomegaly1CTNS CL E G H14972518OMIM:219800Cystinosis, nephropathic.178
HP:0003271HP:0002240Hepatomegaly1CTNS CL E G H14972518OMIM:219800Cystinosis, nephropathic.178
HP:0003271HP:0002240Hepatomegaly1CTSA CL E G H54769251OMIM:256540Galactosialidosis51
HP:0003271HP:0001744Splenomegaly1CTSA CL E G H54769251OMIM:256540Galactosialidosis51
HP:0003271HP:0002240Hepatomegaly1CTSK CL E G H15132536ORPHA:763PycnodysostosisHP:0040283 - Occasional39
HP:0003271HP:0001744Splenomegaly1CTSK CL E G H15132536ORPHA:763PycnodysostosisHP:0040283 - Occasional39
HP:0003271HP:0001744Splenomegaly1CYBA CL E G H15352577ORPHA:379Chronic granulomatous diseaseHP:0040283 - Occasional27
HP:0003271HP:0002240Hepatomegaly1CYBA CL E G H15352577ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent27
HP:0003271HP:0002240Hepatomegaly1CYBA CL E G H15352577OMIM:233690GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE.27
HP:0003271HP:0001744Splenomegaly1CYBA CL E G H15352577OMIM:233690GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE.27
HP:0003271HP:0001744Splenomegaly1CYBB CL E G H15362578ORPHA:379Chronic granulomatous diseaseHP:0040283 - Occasional111
HP:0003271HP:0002240Hepatomegaly1CYBB CL E G H15362578ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent111
HP:0003271HP:0001744Splenomegaly1CYBB CL E G H15362578OMIM:306400Chronic granulomatous disease, X-linked.111
HP:0003271HP:0002240Hepatomegaly1CYBB CL E G H15362578OMIM:306400Chronic granulomatous disease, X-linked.111
HP:0003271HP:0001744Splenomegaly1CYBC1 CL E G H7941528672ORPHA:379Chronic granulomatous diseaseHP:0040283 - Occasional
HP:0003271HP:0002240Hepatomegaly1CYBC1 CL E G H7941528672ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent
HP:0003271HP:0001744Splenomegaly1CYBC1 CL E G H7941528672OMIM:618935GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0003271HP:0002240Hepatomegaly1CYBC1 CL E G H7941528672OMIM:618935GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0003271HP:0001744Splenomegaly1CYP7B1 CL E G H94202652OMIM:613812Bile acid synthesis defect, congenital, 3.57
HP:0003271HP:0002240Hepatomegaly1CYP7B1 CL E G H94202652OMIM:613812Bile acid synthesis defect, congenital, 3.57
HP:0003271HP:0001744Splenomegaly1CYP7B1 CL E G H94202652ORPHA:79302Congenital bile acid synthesis defect type 3HP:0040281 - Very frequent57
HP:0003271HP:0002240Hepatomegaly1CYP7B1 CL E G H94202652ORPHA:79302Congenital bile acid synthesis defect type 3HP:0040281 - Very frequent57
HP:0003271HP:0002240Hepatomegaly1CYTB CL E G H45197427ORPHA:137675Histiocytoid cardiomyopathyHP:0040283 - Occasional
HP:0003271HP:0002240Hepatomegaly1DAXX CL E G H16162681ORPHA:100075Neuroendocrine tumor of stomachHP:0040283 - Occasional
HP:0003271HP:0001744Splenomegaly1DCDC2 CL E G H5147318141OMIM:616217Nephronophthisis 19.8
HP:0003271HP:0002240Hepatomegaly1DCDC2 CL E G H5147318141OMIM:616217Nephronophthisis 19.8
HP:0003271HP:0002240Hepatomegaly1DCDC2 CL E G H5147318141OMIM:617394Sclerosing cholangitis, neonatal.8
HP:0003271HP:0001744Splenomegaly1DCDC2 CL E G H5147318141OMIM:617394Sclerosing cholangitis, neonatal.8
HP:0003271HP:0001744Splenomegaly1DCDC2 CL E G H5147318141ORPHA:84081Senior-Boichis syndrome8
HP:0003271HP:0002240Hepatomegaly1DCDC2 CL E G H5147318141ORPHA:84081Senior-Boichis syndrome8
HP:0003271HP:0002240Hepatomegaly1DCLRE1C CL E G H6442117642ORPHA:39041Omenn syndromeHP:0040281 - Very frequent94
HP:0003271HP:0001744Splenomegaly1DCLRE1C CL E G H6442117642OMIM:603554Omenn syndrome.94
HP:0003271HP:0002240Hepatomegaly1DCLRE1C CL E G H6442117642OMIM:603554Omenn syndrome.94
HP:0003271HP:0001744Splenomegaly1DCLRE1C CL E G H6442117642ORPHA:39041Omenn syndromeHP:0040282 - Frequent94
HP:0003271HP:0002240Hepatomegaly1DCLRE1C CL E G H6442117642OMIM:602450Severe combined immunodeficiency with sensitivity to ionizing radiation94
HP:0003271HP:0001744Splenomegaly1DCLRE1C CL E G H6442117642OMIM:602450Severe combined immunodeficiency with sensitivity to ionizing radiation94
HP:0003271HP:0002240Hepatomegaly1DDRGK1 CL E G H6599216110ORPHA:93352Spondyloepimetaphyseal dysplasia, Shohat type
HP:0003271HP:0002240Hepatomegaly1DDRGK1 CL E G H6599216110OMIM:602557Spondyloepimetaphyseal dysplasia, Shohat type.
HP:0003271HP:0001744Splenomegaly1DDRGK1 CL E G H6599216110ORPHA:93352Spondyloepimetaphyseal dysplasia, Shohat type
HP:0003271HP:0001744Splenomegaly1DDRGK1 CL E G H6599216110OMIM:602557Spondyloepimetaphyseal dysplasia, Shohat type.
HP:0003271HP:0002240Hepatomegaly1DEF6 CL E G H506192760OMIM:619573IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0003271HP:0001744Splenomegaly1DGUOK CL E G H17162858OMIM:251880Mitochondrial DNA depletion syndrome 3 (hepatocerebral type).57
HP:0003271HP:0002240Hepatomegaly1DGUOK CL E G H17162858OMIM:251880Mitochondrial DNA depletion syndrome 3 (hepatocerebral type).57
HP:0003271HP:0001744Splenomegaly1DGUOK CL E G H17162858OMIM:617068Portal hypertension, noncirrhotic.57
HP:0003271HP:0002240Hepatomegaly1DGUOK CL E G H17162858OMIM:617068Portal hypertension, noncirrhotic.57
HP:0003271HP:0001744Splenomegaly1DHCR24 CL E G H17182859ORPHA:35107DesmosterolosisHP:0040283 - Occasional72
HP:0003271HP:0001744Splenomegaly1DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0003271HP:0002240Hepatomegaly1DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0003271HP:0002240Hepatomegaly1DHDDS CL E G H7994720603OMIM:613861Retinitis pigmentosa 59.47
HP:0003271HP:0002240Hepatomegaly1DHFR CL E G H17192861OMIM:613839Megaloblastic anemia due to dihydrofolate reductase deficiency.7
HP:0003271HP:0002240Hepatomegaly1DIS3L2 CL E G H12956328648ORPHA:2849Perlman syndromeHP:0040281 - Very frequent164
HP:0003271HP:0002240Hepatomegaly1DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional65
HP:0003271HP:0001744Splenomegaly1DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional65
HP:0003271HP:0002240Hepatomegaly1DLD CL E G H17382898OMIM:246900Dihydrolipoamide dehydrogenase deficiencyHP:0040283 - Occasional89
HP:0003271HP:0002240Hepatomegaly1DLD CL E G H17382898ORPHA:2394Pyruvate dehydrogenase E3 deficiencyHP:0040282 - Frequent89
HP:0003271HP:0002240Hepatomegaly1DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0003271HP:0001744Splenomegaly1DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0003271HP:0001744Splenomegaly1DLL4 CL E G H545672910OMIM:616589Adams-Oliver syndrome 69
HP:0003271HP:0002240Hepatomegaly1DNAJC21 CL E G H13421827030ORPHA:811Shwachman-Diamond syndromeHP:0040284 - Very rare5
HP:0003271HP:0002240Hepatomegaly1DNAJC21 CL E G H13421827030OMIM:260400Shwachman-Diamond syndrome 1.5
HP:0003271HP:0002240Hepatomegaly1DNASE1L3 CL E G H17762959ORPHA:36412Hypocomplementemic urticarial vasculitisHP:0040283 - Occasional3
HP:0003271HP:0001744Splenomegaly1DNASE1L3 CL E G H17762959ORPHA:36412Hypocomplementemic urticarial vasculitisHP:0040283 - Occasional3
HP:0003271HP:0002240Hepatomegaly1DNASE2 CL E G H17772960OMIM:619858
HP:0003271HP:0001744Splenomegaly1DNASE2 CL E G H17772960OMIM:619858
HP:0003271HP:0002240Hepatomegaly1DOCK2 CL E G H17942988OMIM:616433Immunodeficiency 406
HP:0003271HP:0002240Hepatomegaly1DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDGHP:0040283 - Occasional38
HP:0003271HP:0002240Hepatomegaly1DPM1 CL E G H88133005OMIM:608799Congenital disorder of glycosylation, type IE.27
HP:0003271HP:0001744Splenomegaly1DPM1 CL E G H88133005OMIM:608799Congenital disorder of glycosylation, type IE.27
HP:0003271HP:0002240Hepatomegaly1DPM1 CL E G H88133005ORPHA:79322DPM1-CDGHP:0040283 - Occasional27
HP:0003271HP:0001744Splenomegaly1DPM1 CL E G H88133005ORPHA:79322DPM1-CDG27
HP:0003271HP:0002240Hepatomegaly1DPM2 CL E G H88183006ORPHA:329178Congenital muscular dystrophy with intellectual disability and severe epilepsyHP:0040283 - Occasional26
HP:0003271HP:0002240Hepatomegaly1DYNC2LI1 CL E G H5162624595OMIM:617088Short-rib thoracic dysplasia 15 with polydactyly.7
HP:0003271HP:0001744Splenomegaly1DYNC2LI1 CL E G H5162624595OMIM:617088Short-rib thoracic dysplasia 15 with polydactyly.7
HP:0003271HP:0001744Splenomegaly1DZIP1L CL E G H19922126551ORPHA:731Autosomal recessive polycystic kidney diseaseHP:0040282 - Frequent4
HP:0003271HP:0002240Hepatomegaly1DZIP1L CL E G H19922126551ORPHA:731Autosomal recessive polycystic kidney disease4
HP:0003271HP:0002240Hepatomegaly1DZIP1L CL E G H19922126551OMIM:617610Polycystic kidney disease 54
HP:0003271HP:0001744Splenomegaly1DZIP1L CL E G H19922126551OMIM:617610Polycystic kidney disease 54
HP:0003271HP:0002240Hepatomegaly1EARS2 CL E G H12445429419OMIM:614924Combined oxidative phosphorylation deficiency 12HP:0040283 - Occasional80
HP:0003271HP:0002240Hepatomegaly1EFL1 CL E G H7963125789ORPHA:811Shwachman-Diamond syndromeHP:0040284 - Very rare1
HP:0003271HP:0002240Hepatomegaly1EFL1 CL E G H7963125789OMIM:617941Shwachman-Diamond syndrome 2.1
HP:0003271HP:0002240Hepatomegaly1EIF2AK3 CL E G H94513255OMIM:226980Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus.65
HP:0003271HP:0002240Hepatomegaly1EIF2AK3 CL E G H94513255ORPHA:1667Wolcott-Rallison syndromeHP:0040283 - Occasional65
HP:0003271HP:0001744Splenomegaly1EPB41 CL E G H20353377OMIM:611804Elliptocytosis 1.6
HP:0003271HP:0001744Splenomegaly1EPB41 CL E G H20353377ORPHA:288Hereditary elliptocytosisHP:0040283 - Occasional6
HP:0003271HP:0002240Hepatomegaly1EPB42 CL E G H20383381ORPHA:822Hereditary spherocytosisHP:0040282 - Frequent51
HP:0003271HP:0001744Splenomegaly1EPB42 CL E G H20383381ORPHA:822Hereditary spherocytosisHP:0040282 - Frequent51
HP:0003271HP:0001744Splenomegaly1EPB42 CL E G H20383381OMIM:612690SPHEROCYTOSIS, TYPE 5; SPH551
HP:0003271HP:0001744Splenomegaly1ERAP1 CL E G H5175218173ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0003271HP:0001744Splenomegaly1ERBB3 CL E G H20653431OMIM:133180Erythroleukemia, familial, susceptibility to.12
HP:0003271HP:0002240Hepatomegaly1ERBB3 CL E G H20653431OMIM:133180Erythroleukemia, familial, susceptibility to.12
HP:0003271HP:0002240Hepatomegaly1ERCC1 CL E G H20673433ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional20
HP:0003271HP:0002240Hepatomegaly1ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional158
HP:0003271HP:0002240Hepatomegaly1ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional199
HP:0003271HP:0002240Hepatomegaly1ERCC6 CL E G H20743438ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional199
HP:0003271HP:0002240Hepatomegaly1ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3HP:0040283 - Occasional199
HP:0003271HP:0001744Splenomegaly1ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3HP:0040284 - Very rare199
HP:0003271HP:0001744Splenomegaly1ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B.199
HP:0003271HP:0002240Hepatomegaly1ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B.199
HP:0003271HP:0002240Hepatomegaly1ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A.55
HP:0003271HP:0001744Splenomegaly1ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A.55
HP:0003271HP:0002240Hepatomegaly1ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional55
HP:0003271HP:0002240Hepatomegaly1ERCC8 CL E G H11613439ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional55
HP:0003271HP:0002240Hepatomegaly1ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 3HP:0040283 - Occasional55
HP:0003271HP:0001744Splenomegaly1ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 3HP:0040284 - Very rare55
HP:0003271HP:0002240Hepatomegaly1ETFA CL E G H21083481OMIM:231680Multiple acyl-coa dehydrogenase deficiency.37
HP:0003271HP:0002240Hepatomegaly1ETFB CL E G H21093482OMIM:231680Multiple acyl-coa dehydrogenase deficiency.27
HP:0003271HP:0002240Hepatomegaly1ETFDH CL E G H21103483OMIM:231680Multiple acyl-coa dehydrogenase deficiency.77
HP:0003271HP:0002240Hepatomegaly1EWSR1 CL E G H21303508ORPHA:83469Desmoplastic small round cell tumorHP:0040282 - Frequent
HP:0003271HP:0002240Hepatomegaly1EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndromeHP:0040283 - Occasional3
HP:0003271HP:0002240Hepatomegaly1F5 CL E G H21533542ORPHA:131Budd-Chiari syndromeHP:0040282 - Frequent159
HP:0003271HP:0001744Splenomegaly1F5 CL E G H21533542ORPHA:131Budd-Chiari syndromeHP:0040281 - Very frequent159
HP:0003271HP:0001744Splenomegaly1FAH CL E G H21843579ORPHA:882Tyrosinemia type 1HP:0040283 - Occasional107
HP:0003271HP:0002240Hepatomegaly1FAH CL E G H21843579ORPHA:882Tyrosinemia type 1HP:0040283 - Occasional107
HP:0003271HP:0001744Splenomegaly1FAH CL E G H21843579OMIM:276700Tyrosinemia, type I.107
HP:0003271HP:0002240Hepatomegaly1FAH CL E G H21843579OMIM:276700Tyrosinemia, type I.107
HP:0003271HP:0002240Hepatomegaly1FAM111B CL E G H37439324200OMIM:615704Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis.6
HP:0003271HP:0002240Hepatomegaly1FARSA CL E G H21933592OMIM:619013RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0003271HP:0001744Splenomegaly1FARSA CL E G H21933592OMIM:619013RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0003271HP:0001744Splenomegaly1FAS CL E G H35511920OMIM:601859Autoimmune lymphoproliferative syndrome.59
HP:0003271HP:0002240Hepatomegaly1FAS CL E G H35511920ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040282 - Frequent59
HP:0003271HP:0001744Splenomegaly1FAS CL E G H35511920ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040281 - Very frequent59
HP:0003271HP:0002240Hepatomegaly1FAS CL E G H35511920OMIM:601859Autoimmune lymphoproliferative syndrome.59
HP:0003271HP:0001744Splenomegaly1FAS CL E G H35511920ORPHA:117Behçet diseaseHP:0040283 - Occasional59
HP:0003271HP:0001744Splenomegaly1FASLG CL E G H35611936OMIM:601859Autoimmune lymphoproliferative syndrome.37
HP:0003271HP:0002240Hepatomegaly1FASLG CL E G H35611936OMIM:601859Autoimmune lymphoproliferative syndrome.37
HP:0003271HP:0001744Splenomegaly1FASLG CL E G H35611936ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040281 - Very frequent37
HP:0003271HP:0002240Hepatomegaly1FASLG CL E G H35611936ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040282 - Frequent37
HP:0003271HP:0001744Splenomegaly1FAT4 CL E G H7963323109ORPHA:2136Hennekam syndromeHP:0040282 - Frequent114
HP:0003271HP:0002240Hepatomegaly1FBN1 CL E G H22003603OMIM:614185GELEOPHYSIC DYSPLASIA 2; GPHYSD21361
HP:0003271HP:0002240Hepatomegaly1FBP1 CL E G H22033606OMIM:229700Fructose-1,6-Bisphosphatase deficiency.64
HP:0003271HP:0002240Hepatomegaly1FBP1 CL E G H22033606ORPHA:348Fructose-1,6-bisphosphatase deficiencyHP:0040283 - Occasional64
HP:0003271HP:0001744Splenomegaly1FCGR2A CL E G H22123616OMIM:219700Cystic fibrosis6
HP:0003271HP:0002240Hepatomegaly1FCGR2A CL E G H22123616OMIM:219700Cystic fibrosis6
HP:0003271HP:0001744Splenomegaly1FCHO1 CL E G H2314929002OMIM:619164IMMUNODEFICIENCY 76; IMD76
HP:0003271HP:0002240Hepatomegaly1FDX2 CL E G H11281230546OMIM:251900Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy.
HP:0003271HP:0001744Splenomegaly1FERMT3 CL E G H8370623151OMIM:612840Leukocyte adhesion deficiency, type III23
HP:0003271HP:0002240Hepatomegaly1FERMT3 CL E G H8370623151OMIM:612840Leukocyte adhesion deficiency, type III.23
HP:0003271HP:0002240Hepatomegaly1FGA CL E G H22433661OMIM:105200Amyloidosis, familial visceral.47
HP:0003271HP:0001744Splenomegaly1FGA CL E G H22433661OMIM:105200Amyloidosis, familial visceral.47
HP:0003271HP:0002240Hepatomegaly1FGFR2 CL E G H22633689OMIM:614592Bent bone dysplasia syndrome175
HP:0003271HP:0001744Splenomegaly1FGFR2 CL E G H22633689OMIM:614592Bent bone dysplasia syndrome175
HP:0003271HP:0001744Splenomegaly1FGFR2 CL E G H22633689ORPHA:313855FGFR2-related bent bone dysplasia175
HP:0003271HP:0002240Hepatomegaly1FGFR2 CL E G H22633689ORPHA:313855FGFR2-related bent bone dysplasia175
HP:0003271HP:0002240Hepatomegaly1FLNC CL E G H23183756ORPHA:75249Familial isolated restrictive cardiomyopathyHP:0040283 - Occasional197
HP:0003271HP:0001744Splenomegaly1FMO3 CL E G H23283771OMIM:602079Trimethylaminuria.55
HP:0003271HP:0001744Splenomegaly1FOCAD CL E G H5491423377OMIM:6199913
HP:0003271HP:0002240Hepatomegaly1FOCAD CL E G H5491423377OMIM:6199913
HP:0003271HP:0002240Hepatomegaly1FOS CL E G H23533796ORPHA:528Congenital generalized lipodystrophyHP:0040281 - Very frequent
HP:0003271HP:0001744Splenomegaly1FOXP3 CL E G H509436106ORPHA:37042Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndromeHP:0040284 - Very rare32
HP:0003271HP:0002240Hepatomegaly1FOXRED1 CL E G H5557226927ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent61
HP:0003271HP:0002240Hepatomegaly1FUCA1 CL E G H25174006OMIM:230000FUCOSIDOSIS.43
HP:0003271HP:0002240Hepatomegaly1FUCA1 CL E G H25174006ORPHA:349FucosidosisHP:0040281 - Very frequent43
HP:0003271HP:0001744Splenomegaly1FUCA1 CL E G H25174006OMIM:230000FUCOSIDOSIS.43
HP:0003271HP:0002240Hepatomegaly1G6PC1 CL E G H25384056OMIM:232200Glycogen storage disease ia.
HP:0003271HP:0002240Hepatomegaly1G6PC3 CL E G H9257924861OMIM:612541Neutropenia, severe congenital, 4, autosomal recessive.37
HP:0003271HP:0001744Splenomegaly1G6PC3 CL E G H9257924861OMIM:612541Neutropenia, severe congenital, 4, autosomal recessive.37
HP:0003271HP:0001744Splenomegaly1G6PD CL E G H25394057OMIM:300908Anemia, nonspherocytic hemolytic, due to g6pd deficiencyHP:0040284 - Very rare101
HP:0003271HP:0002240Hepatomegaly1GAA CL E G H25484065ORPHA:308552Glycogen storage disease due to acid maltase deficiency, infantile onsetHP:0040281 - Very frequent407
HP:0003271HP:0002240Hepatomegaly1GAA CL E G H25484065OMIM:232300Glycogen storage disease II.407
HP:0003271HP:0001744Splenomegaly1GAA CL E G H25484065OMIM:232300Glycogen storage disease II.407
HP:0003271HP:0001744Splenomegaly1GALE CL E G H25824116OMIM:230350Galactose epimerase deficiency.52
HP:0003271HP:0002240Hepatomegaly1GALE CL E G H25824116OMIM:230350Galactose epimerase deficiency.52
HP:0003271HP:0002240Hepatomegaly1GALK1 CL E G H25844118ORPHA:79237Galactokinase deficiencyHP:0040283 - Occasional23
HP:0003271HP:0001744Splenomegaly1GALK1 CL E G H25844118ORPHA:79237Galactokinase deficiency23
HP:0003271HP:0002240Hepatomegaly1GALM CL E G H13058924063ORPHA:570422Galactose mutarotase deficiencyHP:0040284 - Very rare
HP:0003271HP:0002240Hepatomegaly1GALNS CL E G H25884122OMIM:253000Morquio syndrome A.123
HP:0003271HP:0002240Hepatomegaly1GALT CL E G H25924135ORPHA:79239Classic galactosemiaHP:0040282 - Frequent351
HP:0003271HP:0002240Hepatomegaly1GALT CL E G H25924135OMIM:230400GALACTOSEMIA.351
HP:0003271HP:0001744Splenomegaly1GATA1 CL E G H26234170ORPHA:231393Beta-thalassemia-X-linked thrombocytopenia syndromeHP:0040281 - Very frequent29
HP:0003271HP:0001744Splenomegaly1GATA1 CL E G H26234170ORPHA:79277Congenital erythropoietic porphyriaHP:0040283 - Occasional29
HP:0003271HP:0001744Splenomegaly1GATA1 CL E G H26234170OMIM:314050Thrombocytopenia with beta-thalassemia, X-linked.29
HP:0003271HP:0001744Splenomegaly1GATA2 CL E G H26244171ORPHA:3226Deafness-lymphedema-leukemia syndromeHP:0040282 - Frequent137
HP:0003271HP:0002240Hepatomegaly1GATA2 CL E G H26244171ORPHA:3226Deafness-lymphedema-leukemia syndromeHP:0040282 - Frequent137
HP:0003271HP:0001744Splenomegaly1GBA1 CL E G H26294177ORPHA:85212Fetal Gaucher diseaseHP:0040282 - Frequent
HP:0003271HP:0002240Hepatomegaly1GBA1 CL E G H26294177ORPHA:85212Fetal Gaucher diseaseHP:0040282 - Frequent
HP:0003271HP:0002240Hepatomegaly1GBA1 CL E G H26294177ORPHA:77259Gaucher disease type 1HP:0040281 - Very frequent
HP:0003271HP:0001744Splenomegaly1GBA1 CL E G H26294177ORPHA:77259Gaucher disease type 1HP:0040281 - Very frequent
HP:0003271HP:0001744Splenomegaly1GBA1 CL E G H26294177ORPHA:77260Gaucher disease type 2HP:0040281 - Very frequent
HP:0003271HP:0002240Hepatomegaly1GBA1 CL E G H26294177ORPHA:77260Gaucher disease type 2HP:0040281 - Very frequent
HP:0003271HP:0001744Splenomegaly1GBA1 CL E G H26294177ORPHA:77261Gaucher disease type 3HP:0040281 - Very frequent
HP:0003271HP:0002240Hepatomegaly1GBA1 CL E G H26294177ORPHA:77261Gaucher disease type 3HP:0040281 - Very frequent
HP:0003271HP:0001744Splenomegaly1GBA1 CL E G H26294177OMIM:608013Gaucher disease, perinatal lethal.
HP:0003271HP:0002240Hepatomegaly1GBA1 CL E G H26294177OMIM:608013Gaucher disease, perinatal lethal
HP:0003271HP:0001744Splenomegaly1GBA1 CL E G H26294177OMIM:230800Gaucher disease, type I.
HP:0003271HP:0002240Hepatomegaly1GBA1 CL E G H26294177OMIM:230800Gaucher disease, type I.
HP:0003271HP:0001744Splenomegaly1GBA1 CL E G H26294177OMIM:230900Gaucher disease, type II.
HP:0003271HP:0002240Hepatomegaly1GBA1 CL E G H26294177OMIM:230900Gaucher disease, type II.
HP:0003271HP:0001744Splenomegaly1GBA1 CL E G H26294177OMIM:231000Gaucher disease, type III.
HP:0003271HP:0002240Hepatomegaly1GBA1 CL E G H26294177OMIM:231000Gaucher disease, type III.
HP:0003271HP:0001744Splenomegaly1GBA1 CL E G H26294177OMIM:231005Gaucher disease, type IIIC.
HP:0003271HP:0002240Hepatomegaly1GBA1 CL E G H26294177OMIM:231005Gaucher disease, type IIIC.
HP:0003271HP:0001744Splenomegaly1GBA1 CL E G H26294177ORPHA:2072Gaucher disease-ophthalmoplegia-cardiovascular calcification syndromeHP:0040283 - Occasional
HP:0003271HP:0002240Hepatomegaly1GBA1 CL E G H26294177ORPHA:2072Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0003271HP:0001744Splenomegaly1GBE1 CL E G H26324180OMIM:232500Glycogen storage disease IV86
HP:0003271HP:0002240Hepatomegaly1GBE1 CL E G H26324180OMIM:232500Glycogen storage disease IV86
HP:0003271HP:0002240Hepatomegaly1GCDH CL E G H26394189OMIM:231670Glutaric acidemia I.115
HP:0003271HP:0002240Hepatomegaly1GCLC CL E G H27294311ORPHA:33574Glutamate-cysteine ligase deficiency2
HP:0003271HP:0001744Splenomegaly1GCLC CL E G H27294311ORPHA:33574Glutamate-cysteine ligase deficiency2
HP:0003271HP:0001744Splenomegaly1GEMIN4 CL E G H5062815717OMIM:617913Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities1
HP:0003271HP:0002240Hepatomegaly1GFM1 CL E G H8547613780OMIM:609060Combined oxidative phosphorylation deficiency 1.85
HP:0003271HP:0001744Splenomegaly1GIMAP5 CL E G H5534018005OMIM:619463PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0003271HP:0002240Hepatomegaly1GIMAP5 CL E G H5534018005OMIM:619463PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0003271HP:0001744Splenomegaly1GLB1 CL E G H27204298ORPHA:79255GM1 gangliosidosis type 1120
HP:0003271HP:0002240Hepatomegaly1GLB1 CL E G H27204298ORPHA:79255GM1 gangliosidosis type 1120
HP:0003271HP:0002240Hepatomegaly1GLB1 CL E G H27204298OMIM:230500GM1-gangliosidosis, type I120
HP:0003271HP:0001744Splenomegaly1GLB1 CL E G H27204298OMIM:230500GM1-gangliosidosis, type I120
HP:0003271HP:0002240Hepatomegaly1GLB1 CL E G H27204298OMIM:230600Gm1-gangliosidosis, type II.120
HP:0003271HP:0002240Hepatomegaly1GLB1 CL E G H27204298OMIM:253010Mucopolysaccharidosis type IVB (Morquio).120
HP:0003271HP:0002240Hepatomegaly1GLIS3 CL E G H16979228510OMIM:610199Diabetes mellitus, neonatal, with congenital hypothyroidism.143
HP:0003271HP:0001744Splenomegaly1GLIS3 CL E G H16979228510OMIM:610199Diabetes mellitus, neonatal, with congenital hypothyroidismHP:0040283 - Occasional143
HP:0003271HP:0002240Hepatomegaly1GLRX5 CL E G H5121820134OMIM:616860Anemia, sideroblastic, 3, pyridoxine-refractory.17
HP:0003271HP:0001744Splenomegaly1GLRX5 CL E G H5121820134OMIM:616860Anemia, sideroblastic, 3, pyridoxine-refractory.17
HP:0003271HP:0002240Hepatomegaly1GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0003271HP:0001744Splenomegaly1GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0003271HP:0002240Hepatomegaly1GNE CL E G H1002023657ORPHA:3166SialuriaHP:0040281 - Very frequent173
HP:0003271HP:0001744Splenomegaly1GNE CL E G H1002023657OMIM:269921SIALURIA.173
HP:0003271HP:0002240Hepatomegaly1GNE CL E G H1002023657OMIM:269921SIALURIA.173
HP:0003271HP:0001744Splenomegaly1GNE CL E G H1002023657ORPHA:3166Sialuria173
HP:0003271HP:0002240Hepatomegaly1GNMT CL E G H272324415OMIM:606664GLYCINE N-METHYLTRANSFERASE DEFICIENCY.3
HP:0003271HP:0001744Splenomegaly1GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta.240
HP:0003271HP:0002240Hepatomegaly1GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta.240
HP:0003271HP:0002240Hepatomegaly1GNPTAB CL E G H7915829670ORPHA:576Mucolipidosis type II240
HP:0003271HP:0001744Splenomegaly1GNPTAB CL E G H7915829670ORPHA:576Mucolipidosis type IIHP:0040284 - Very rare240
HP:0003271HP:0001744Splenomegaly1GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID.69
HP:0003271HP:0002240Hepatomegaly1GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID.69
HP:0003271HP:0001744Splenomegaly1GP1BA CL E G H28114439OMIM:153670Bernard-Soulier syndrome, type A2, autosomal dominant.23
HP:0003271HP:0001744Splenomegaly1GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional8
HP:0003271HP:0002240Hepatomegaly1GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040281 - Very frequent73
HP:0003271HP:0001744Splenomegaly1GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040281 - Very frequent73
HP:0003271HP:0002240Hepatomegaly1GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0003271HP:0001744Splenomegaly1GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0003271HP:0001744Splenomegaly1GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040281 - Very frequent
HP:0003271HP:0002240Hepatomegaly1GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040281 - Very frequent
HP:0003271HP:0001744Splenomegaly1GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0003271HP:0002240Hepatomegaly1GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0003271HP:0001744Splenomegaly1GPD1 CL E G H28194455OMIM:614480Hypertriglyceridemia, transient infantileHP:0040283 - Occasional3
HP:0003271HP:0002240Hepatomegaly1GPD1 CL E G H28194455OMIM:614480Hypertriglyceridemia, transient infantile.3
HP:0003271HP:0001744Splenomegaly1GPI CL E G H28214458OMIM:613470Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency.12
HP:0003271HP:0002240Hepatomegaly1GPIHBP1 CL E G H33832824945OMIM:615947Hyperlipoproteinemia, type ID.12
HP:0003271HP:0001744Splenomegaly1GPIHBP1 CL E G H33832824945OMIM:615947Hyperlipoproteinemia, type ID.12
HP:0003271HP:0001744Splenomegaly1GPR35 CL E G H28594492ORPHA:171Primary sclerosing cholangitisHP:0040282 - Frequent2
HP:0003271HP:0002240Hepatomegaly1GPR35 CL E G H28594492ORPHA:171Primary sclerosing cholangitisHP:0040282 - Frequent2
HP:0003271HP:0002240Hepatomegaly1GUCY2D CL E G H30004689OMIM:204000Leber congenital amaurosis, type I.124
HP:0003271HP:0001744Splenomegaly1GUSB CL E G H29904696ORPHA:584Mucopolysaccharidosis type 7HP:0040282 - Frequent54
HP:0003271HP:0002240Hepatomegaly1GUSB CL E G H29904696OMIM:253220Mucopolysaccharidosis, type VII.54
HP:0003271HP:0001744Splenomegaly1GUSB CL E G H29904696OMIM:253220Mucopolysaccharidosis, type VII.54
HP:0003271HP:0001744Splenomegaly1GYPC CL E G H29954704ORPHA:288Hereditary elliptocytosisHP:0040283 - Occasional5
HP:0003271HP:0002240Hepatomegaly1H19-ICR CL E G H105259599OMIM:130650Beckwith-Wiedemann syndrome.
HP:0003271HP:0002240Hepatomegaly1HADHA CL E G H30304801ORPHA:5Long chain 3-hydroxyacyl-CoA dehydrogenase deficiencyHP:0040282 - Frequent99
HP:0003271HP:0002240Hepatomegaly1HADHA CL E G H30304801OMIM:609016Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency.HP:0003593 - Infantile onset99
HP:0003271HP:0001744Splenomegaly1HAMP CL E G H5781715598OMIM:613313Hemochromatosis, type 2B.15
HP:0003271HP:0002240Hepatomegaly1HAMP CL E G H5781715598OMIM:613313Hemochromatosis, type 2B.15
HP:0003271HP:0001744Splenomegaly1HAVCR2 CL E G H8486818437ORPHA:86884Subcutaneous panniculitis-like T-cell lymphoma
HP:0003271HP:0002240Hepatomegaly1HAVCR2 CL E G H8486818437ORPHA:86884Subcutaneous panniculitis-like T-cell lymphoma
HP:0003271HP:0001744Splenomegaly1HAVCR2 CL E G H8486818437OMIM:618398T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKEHP:0040284 - Very rare
HP:0003271HP:0002240Hepatomegaly1HBA1 CL E G H30394823ORPHA:163596Hb Bart's hydrops fetalisHP:0040282 - Frequent200
HP:0003271HP:0001744Splenomegaly1HBA1 CL E G H30394823ORPHA:163596Hb Bart's hydrops fetalisHP:0040282 - Frequent200
HP:0003271HP:0001744Splenomegaly1HBA1 CL E G H30394823OMIM:613978Hemoglobin H disease.200
HP:0003271HP:0002240Hepatomegaly1HBA1 CL E G H30394823OMIM:613978Hemoglobin H disease.200
HP:0003271HP:0001744Splenomegaly1HBA2 CL E G H30404824ORPHA:163596Hb Bart's hydrops fetalisHP:0040282 - Frequent88
HP:0003271HP:0002240Hepatomegaly1HBA2 CL E G H30404824ORPHA:163596Hb Bart's hydrops fetalisHP:0040282 - Frequent88
HP:0003271HP:0002240Hepatomegaly1HBA2 CL E G H30404824OMIM:613978Hemoglobin H disease.88
HP:0003271HP:0001744Splenomegaly1HBA2 CL E G H30404824OMIM:613978Hemoglobin H disease.88
HP:0003271HP:0002240Hepatomegaly1HBB CL E G H30434827ORPHA:231222Beta-thalassemia intermediaHP:0040283 - Occasional580
HP:0003271HP:0001744Splenomegaly1HBB CL E G H30434827ORPHA:231222Beta-thalassemia intermediaHP:0040283 - Occasional580
HP:0003271HP:0002240Hepatomegaly1HBB CL E G H30434827ORPHA:231214Beta-thalassemia majorHP:0040282 - Frequent580
HP:0003271HP:0001744Splenomegaly1HBB CL E G H30434827ORPHA:231214Beta-thalassemia majorHP:0040282 - Frequent580
HP:0003271HP:0002240Hepatomegaly1HBB CL E G H30434827OMIM:603902BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE580
HP:0003271HP:0001744Splenomegaly1HBB CL E G H30434827OMIM:603902BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE580
HP:0003271HP:0001744Splenomegaly1HBB CL E G H30434827ORPHA:231226Dominant beta-thalassemiaHP:0040283 - Occasional580
HP:0003271HP:0002240Hepatomegaly1HBB CL E G H30434827ORPHA:231226Dominant beta-thalassemia580
HP:0003271HP:0001744Splenomegaly1HBB CL E G H30434827ORPHA:231242Hemoglobin C-beta-thalassemia syndromeHP:0040281 - Very frequent580
HP:0003271HP:0001744Splenomegaly1HBB CL E G H30434827ORPHA:90039Hemoglobin D disease580
HP:0003271HP:0001744Splenomegaly1HBB CL E G H30434827ORPHA:2133Hemoglobin E diseaseHP:0040283 - Occasional580
HP:0003271HP:0002240Hepatomegaly1HBB CL E G H30434827ORPHA:46532Hereditary persistence of fetal hemoglobin-beta-thalassemia syndromeHP:0040282 - Frequent580
HP:0003271HP:0001744Splenomegaly1HBB CL E G H30434827ORPHA:46532Hereditary persistence of fetal hemoglobin-beta-thalassemia syndromeHP:0040281 - Very frequent580
HP:0003271HP:0001744Splenomegaly1HBB CL E G H30434827ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome580
HP:0003271HP:0002240Hepatomegaly1HBB CL E G H30434827OMIM:603903Sickle cell anemia.580
HP:0003271HP:0001744Splenomegaly1HBB CL E G H30434827OMIM:603903Sickle cell anemia.580
HP:0003271HP:0002240Hepatomegaly1HBG1 CL E G H30474831ORPHA:46532Hereditary persistence of fetal hemoglobin-beta-thalassemia syndromeHP:0040282 - Frequent35
HP:0003271HP:0001744Splenomegaly1HBG1 CL E G H30474831ORPHA:46532Hereditary persistence of fetal hemoglobin-beta-thalassemia syndromeHP:0040281 - Very frequent35
HP:0003271HP:0001744Splenomegaly1HBG1 CL E G H30474831ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome35
HP:0003271HP:0002240Hepatomegaly1HBG2 CL E G H30484832OMIM:613977Cyanosis, transient neonatalHP:0040283 - Occasional50
HP:0003271HP:0001744Splenomegaly1HBG2 CL E G H30484832ORPHA:46532Hereditary persistence of fetal hemoglobin-beta-thalassemia syndromeHP:0040281 - Very frequent50
HP:0003271HP:0002240Hepatomegaly1HBG2 CL E G H30484832ORPHA:46532Hereditary persistence of fetal hemoglobin-beta-thalassemia syndromeHP:0040282 - Frequent50
HP:0003271HP:0001744Splenomegaly1HBG2 CL E G H30484832ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome50
HP:0003271HP:0001744Splenomegaly1HEXB CL E G H30744879OMIM:268800Sandhoff disease80
HP:0003271HP:0002240Hepatomegaly1HEXB CL E G H30744879OMIM:268800Sandhoff disease80
HP:0003271HP:0002240Hepatomegaly1HEXB CL E G H30744879ORPHA:309155Sandhoff disease, infantile form80
HP:0003271HP:0001744Splenomegaly1HEXB CL E G H30744879ORPHA:309155Sandhoff disease, infantile form80
HP:0003271HP:0001744Splenomegaly1HFE CL E G H30774886OMIM:235200Hemochromatosis, type 1.38
HP:0003271HP:0002240Hepatomegaly1HFE CL E G H30774886OMIM:235200Hemochromatosis, type 1.38
HP:0003271HP:0002240Hepatomegaly1HFE CL E G H30774886ORPHA:465508Symptomatic form of hemochromatosis type 1HP:0040282 - Frequent38
HP:0003271HP:0001744Splenomegaly1HFE CL E G H30774886ORPHA:465508Symptomatic form of hemochromatosis type 1HP:0040283 - Occasional38
HP:0003271HP:0002240Hepatomegaly1HGSNAT CL E G H13805026527OMIM:252930Mucopolysaccharidosis type IIIC.86
HP:0003271HP:0001744Splenomegaly1HGSNAT CL E G H13805026527OMIM:252930Mucopolysaccharidosis type IIIC.86
HP:0003271HP:0001744Splenomegaly1HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional3
HP:0003271HP:0002240Hepatomegaly1HJV CL E G H1487384887OMIM:602390Hemochromatosis, type 2A
HP:0003271HP:0001744Splenomegaly1HJV CL E G H1487384887OMIM:602390Hemochromatosis, type 2A.
HP:0003271HP:0001744Splenomegaly1HK1 CL E G H30984922OMIM:235700Hemolytic anemia, nonspherocytic, due to hexokinase deficiency.11
HP:0003271HP:0001744Splenomegaly1HLA-B CL E G H31064932ORPHA:117Behçet diseaseHP:0040283 - Occasional4
HP:0003271HP:0001744Splenomegaly1HLA-DRB1 CL E G H31234948ORPHA:545Follicular lymphomaHP:0040282 - Frequent2
HP:0003271HP:0002240Hepatomegaly1HLA-DRB1 CL E G H31234948ORPHA:797SarcoidosisHP:0040283 - Occasional2
HP:0003271HP:0002240Hepatomegaly1HLA-DRB1 CL E G H31234948OMIM:181000Sarcoidosis, susceptibility to, 1HP:0040283 - Occasional2
HP:0003271HP:0001744Splenomegaly1HLA-DRB1 CL E G H31234948OMIM:181000Sarcoidosis, susceptibility to, 1HP:0040283 - Occasional2
HP:0003271HP:0002240Hepatomegaly1HLA-DRB1 CL E G H31234948ORPHA:85414Systemic-onset juvenile idiopathic arthritisHP:0040283 - Occasional2
HP:0003271HP:0001744Splenomegaly1HLA-DRB1 CL E G H31234948ORPHA:85414Systemic-onset juvenile idiopathic arthritisHP:0040283 - Occasional2
HP:0003271HP:0002240Hepatomegaly1HMGCL CL E G H31555005ORPHA:203-hydroxy-3-methylglutaric aciduriaHP:0040282 - Frequent35
HP:0003271HP:0002240Hepatomegaly1HMGCL CL E G H31555005OMIM:2464503-Hydroxy-3-Methylglutaryl-Coa lyase deficiency.35
HP:0003271HP:0002240Hepatomegaly1HMGCS2 CL E G H31585008OMIM:6059113-Hydroxy-3-Methylglutaryl-Coa synthase-2 deficiency.42
HP:0003271HP:0002240Hepatomegaly1HMOX1 CL E G H31625013OMIM:614034HEME OXYGENASE 1 DEFICIENCY; HMOX1D3
HP:0003271HP:0002240Hepatomegaly1HNF1A CL E G H692711621ORPHA:324575Hyperinsulinism due to HNF1A deficiencyHP:0040284 - Very rare161
HP:0003271HP:0002240Hepatomegaly1HNF4A CL E G H31725024OMIM:616026Fanconi renotubular syndrome 4 with maturity-onset diabetes of the youngHP:0040283 - Occasional138
HP:0003271HP:0002240Hepatomegaly1HNF4A CL E G H31725024ORPHA:263455Hyperinsulinism due to HNF4A deficiencyHP:0040281 - Very frequent138
HP:0003271HP:0002240Hepatomegaly1HPGD CL E G H32485154ORPHA:2796PachydermoperiostosisHP:0040283 - Occasional55
HP:0003271HP:0001744Splenomegaly1HPGD CL E G H32485154ORPHA:2796PachydermoperiostosisHP:0040283 - Occasional55
HP:0003271HP:0002240Hepatomegaly1HSD17B4 CL E G H32955213OMIM:261515D-bifunctional protein deficiency98
HP:0003271HP:0001744Splenomegaly1HSD17B4 CL E G H32955213OMIM:261515D-bifunctional protein deficiency98
HP:0003271HP:0001744Splenomegaly1HSD3B7 CL E G H8027018324OMIM:607765Bile acid synthesis defect, congenital, 1.26
HP:0003271HP:0002240Hepatomegaly1HSD3B7 CL E G H8027018324OMIM:607765Bile acid synthesis defect, congenital, 1.26
HP:0003271HP:0001744Splenomegaly1HSD3B7 CL E G H8027018324ORPHA:79301Congenital bile acid synthesis defect type 1HP:0040282 - Frequent26
HP:0003271HP:0002240Hepatomegaly1HSD3B7 CL E G H8027018324ORPHA:79301Congenital bile acid synthesis defect type 1HP:0040281 - Very frequent26
HP:0003271HP:0002240Hepatomegaly1HYMAI CL E G H570615326ORPHA:96191Paternal uniparental disomy of chromosome 6HP:0040281 - Very frequent
HP:0003271HP:0002240Hepatomegaly1HYOU1 CL E G H1052516931OMIM:233600Immunodeficiency 59 and hypoglycemia.
HP:0003271HP:0002240Hepatomegaly1IARS1 CL E G H33765330ORPHA:541423Growth delay-intellectual disability-hepatopathy syndrome
HP:0003271HP:0001744Splenomegaly1IARS1 CL E G H33765330ORPHA:541423Growth delay-intellectual disability-hepatopathy syndrome
HP:0003271HP:0001744Splenomegaly1ICOS CL E G H298515351ORPHA:1572Common variable immunodeficiencyHP:0040282 - Frequent32
HP:0003271HP:0002240Hepatomegaly1ICOS CL E G H298515351OMIM:607594Immunodeficiency, common variable, 1.32
HP:0003271HP:0001744Splenomegaly1ICOS CL E G H298515351OMIM:607594Immunodeficiency, common variable, 1.32
HP:0003271HP:0001744Splenomegaly1ICOS CL E G H298515351OMIM:240500Immunodeficiency, common variable, 2.32
HP:0003271HP:0002240Hepatomegaly1ICOS CL E G H298515351OMIM:240500Immunodeficiency, common variable, 2.32
HP:0003271HP:0001744Splenomegaly1IDS CL E G H34235389ORPHA:217093Mucopolysaccharidosis type 2, attenuated formHP:0040283 - Occasional86
HP:0003271HP:0002240Hepatomegaly1IDS CL E G H34235389ORPHA:217093Mucopolysaccharidosis type 2, attenuated form86
HP:0003271HP:0002240Hepatomegaly1IDS CL E G H34235389ORPHA:217085Mucopolysaccharidosis type 2, severe form86
HP:0003271HP:0001744Splenomegaly1IDS CL E G H34235389ORPHA:217085Mucopolysaccharidosis type 2, severe formHP:0040283 - Occasional86
HP:0003271HP:0001744Splenomegaly1IDS CL E G H34235389OMIM:309900Mucopolysaccharidosis, type II.86
HP:0003271HP:0002240Hepatomegaly1IDS CL E G H34235389OMIM:309900Mucopolysaccharidosis, type II.86
HP:0003271HP:0002240Hepatomegaly1IDUA CL E G H34255391ORPHA:93473Hurler syndromeHP:0040281 - Very frequent115
HP:0003271HP:0001744Splenomegaly1IDUA CL E G H34255391OMIM:607014Hurler syndrome.115
HP:0003271HP:0001744Splenomegaly1IDUA CL E G H34255391ORPHA:93473Hurler syndromeHP:0040281 - Very frequent115
HP:0003271HP:0002240Hepatomegaly1IDUA CL E G H34255391OMIM:607014Hurler syndrome.115
HP:0003271HP:0001744Splenomegaly1IDUA CL E G H34255391ORPHA:93476Hurler-Scheie syndromeHP:0040281 - Very frequent115
HP:0003271HP:0002240Hepatomegaly1IDUA CL E G H34255391OMIM:607015Hurler-Scheie syndrome.115
HP:0003271HP:0001744Splenomegaly1IDUA CL E G H34255391OMIM:607015Hurler-Scheie syndrome.115
HP:0003271HP:0002240Hepatomegaly1IDUA CL E G H34255391ORPHA:93476Hurler-Scheie syndromeHP:0040281 - Very frequent115
HP:0003271HP:0001744Splenomegaly1IDUA CL E G H34255391ORPHA:93474Scheie syndromeHP:0040282 - Frequent115
HP:0003271HP:0002240Hepatomegaly1IDUA CL E G H34255391ORPHA:93474Scheie syndromeHP:0040282 - Frequent115
HP:0003271HP:0002240Hepatomegaly1IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndrome28
HP:0003271HP:0001744Splenomegaly1IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndrome28
HP:0003271HP:0002240Hepatomegaly1IFIH1 CL E G H6413518873OMIM:615846Aicardi-Goutieres syndrome 7HP:0040283 - Occasional28
HP:0003271HP:0001744Splenomegaly1IFIH1 CL E G H6413518873OMIM:615846Aicardi-Goutieres syndrome 7HP:0040283 - Occasional28
HP:0003271HP:0002240Hepatomegaly1IFNG CL E G H34585438OMIM:618963IMMUNODEFICIENCY 69; IMD6923
HP:0003271HP:0001744Splenomegaly1IFNG CL E G H34585438OMIM:618963IMMUNODEFICIENCY 69; IMD6923
HP:0003271HP:0001744Splenomegaly1IFNGR1 CL E G H34595439ORPHA:117Behçet diseaseHP:0040283 - Occasional60
HP:0003271HP:0002240Hepatomegaly1IFNGR1 CL E G H34595439OMIM:209950Immunodeficiency 27A, mycobacteriosis, AR60
HP:0003271HP:0001744Splenomegaly1IFNGR1 CL E G H34595439OMIM:209950Immunodeficiency 27A, mycobacteriosis, AR60
HP:0003271HP:0002240Hepatomegaly1IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia.93
HP:0003271HP:0001744Splenomegaly1IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0003271HP:0002240Hepatomegaly1IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactylyHP:0040282 - Frequent148
HP:0003271HP:0001744Splenomegaly1IFT172 CL E G H2616030391OMIM:615630Short-Rib thoracic dysplasia 10 with or without polydactyly.48
HP:0003271HP:0002240Hepatomegaly1IFT172 CL E G H2616030391OMIM:615630Short-Rib thoracic dysplasia 10 with or without polydactyly.48
HP:0003271HP:0002240Hepatomegaly1IGF2 CL E G H34815466OMIM:130650Beckwith-Wiedemann syndrome.9
HP:0003271HP:0001744Splenomegaly1IGH CL E G H34925477ORPHA:545Follicular lymphomaHP:0040282 - Frequent7
HP:0003271HP:0001744Splenomegaly1IGH CL E G H34925477ORPHA:52416Mantle cell lymphomaHP:0040282 - Frequent7
HP:0003271HP:0002240Hepatomegaly1IKBKG CL E G H85175961OMIM:30108152
HP:0003271HP:0001744Splenomegaly1IKBKG CL E G H85175961OMIM:30108152
HP:0003271HP:0001744Splenomegaly1IKZF3 CL E G H2280613178OMIM:619437IMMUNODEFICIENCY 84; IMD84
HP:0003271HP:0001744Splenomegaly1IL10 CL E G H35865962ORPHA:117Behçet diseaseHP:0040283 - Occasional2
HP:0003271HP:0001744Splenomegaly1IL12A CL E G H35925969ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0003271HP:0001744Splenomegaly1IL12A-AS1 CL E G H10192837649094ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0003271HP:0002240Hepatomegaly1IL18BP CL E G H100685987OMIM:618549HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH
HP:0003271HP:0002240Hepatomegaly1IL1RN CL E G H35576000OMIM:612852Interleukin 1 receptor antagonist deficiency.40
HP:0003271HP:0001744Splenomegaly1IL1RN CL E G H35576000OMIM:612852Interleukin 1 receptor antagonist deficiency.40
HP:0003271HP:0001744Splenomegaly1IL23R CL E G H14923319100ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0003271HP:0002240Hepatomegaly1IL2RA CL E G H35596008OMIM:606367IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD4165
HP:0003271HP:0001744Splenomegaly1IL2RA CL E G H35596008OMIM:606367IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD4165
HP:0003271HP:0001744Splenomegaly1IL2RA CL E G H35596008ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis65
HP:0003271HP:0002240Hepatomegaly1IL2RA CL E G H35596008ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis65
HP:0003271HP:0002240Hepatomegaly1IL2RB CL E G H35606009OMIM:618495Immunodeficiency 63 with lymphoproliferation and autoimmunity.
HP:0003271HP:0001744Splenomegaly1IL2RB CL E G H35606009OMIM:618495Immunodeficiency 63 with lymphoproliferation and autoimmunity.
HP:0003271HP:0002240Hepatomegaly1IL2RB CL E G H35606009ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0003271HP:0001744Splenomegaly1IL2RB CL E G H35606009ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0003271HP:0001744Splenomegaly1IL2RG CL E G H35616010ORPHA:39041Omenn syndromeHP:0040282 - Frequent48
HP:0003271HP:0002240Hepatomegaly1IL2RG CL E G H35616010ORPHA:39041Omenn syndromeHP:0040281 - Very frequent48
HP:0003271HP:0002240Hepatomegaly1IL2RG CL E G H35616010OMIM:300400Severe combined immunodeficiency, X-linked.48
HP:0003271HP:0002240Hepatomegaly1IL2RG CL E G H35616010ORPHA:276T-B+ severe combined immunodeficiency due to gamma chain deficiencyHP:0040284 - Very rare48
HP:0003271HP:0001744Splenomegaly1IL6 CL E G H35696018ORPHA:85414Systemic-onset juvenile idiopathic arthritisHP:0040283 - Occasional2
HP:0003271HP:0002240Hepatomegaly1IL6 CL E G H35696018ORPHA:85414Systemic-onset juvenile idiopathic arthritisHP:0040283 - Occasional2
HP:0003271HP:0001744Splenomegaly1IL6ST CL E G H35726021OMIM:619750IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0003271HP:0002240Hepatomegaly1IL6ST CL E G H35726021OMIM:619750IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0003271HP:0002240Hepatomegaly1IL7R CL E G H35756024ORPHA:39041Omenn syndromeHP:0040281 - Very frequent94
HP:0003271HP:0001744Splenomegaly1IL7R CL E G H35756024ORPHA:39041Omenn syndromeHP:0040282 - Frequent94
HP:0003271HP:0001744Splenomegaly1IL7R CL E G H35756024OMIM:608971Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive.94
HP:0003271HP:0002240Hepatomegaly1IL7R CL E G H35756024OMIM:608971Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive.94
HP:0003271HP:0002240Hepatomegaly1IL7R CL E G H35756024ORPHA:169154T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency94
HP:0003271HP:0001744Splenomegaly1IL7R CL E G H35756024ORPHA:169154T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency94
HP:0003271HP:0002240Hepatomegaly1INPP5E CL E G H5662321474ORPHA:1454Joubert syndrome with hepatic defectHP:0040281 - Very frequent111
HP:0003271HP:0001744Splenomegaly1INPP5E CL E G H5662321474ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional111
HP:0003271HP:0002240Hepatomegaly1INPPL1 CL E G H36366080ORPHA:2746OpsismodysplasiaHP:0040283 - Occasional18
HP:0003271HP:0001744Splenomegaly1INPPL1 CL E G H36366080ORPHA:2746OpsismodysplasiaHP:0040283 - Occasional18
HP:0003271HP:0002240Hepatomegaly1INSR CL E G H36436091ORPHA:508LeprechaunismHP:0040282 - Frequent229
HP:0003271HP:0001744Splenomegaly1IRF2BP2 CL E G H35994821729ORPHA:1572Common variable immunodeficiencyHP:0040282 - Frequent4
HP:0003271HP:0001744Splenomegaly1IRF4 CL E G H36626119ORPHA:3452Whipple diseaseHP:0040282 - Frequent1
HP:0003271HP:0002240Hepatomegaly1IRF4 CL E G H36626119ORPHA:3452Whipple diseaseHP:0040282 - Frequent1
HP:0003271HP:0001744Splenomegaly1IRF8 CL E G H33945358OMIM:226990Immunodeficiency 32B.5
HP:0003271HP:0002240Hepatomegaly1IRF8 CL E G H33945358OMIM:226990Immunodeficiency 32B5
HP:0003271HP:0001744Splenomegaly1ITCH CL E G H8373713890OMIM:613385AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD3
HP:0003271HP:0002240Hepatomegaly1ITCH CL E G H8373713890OMIM:613385AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD3
HP:0003271HP:0002240Hepatomegaly1ITCH CL E G H8373713890ORPHA:228426Syndromic multisystem autoimmune disease due to Itch deficiency3
HP:0003271HP:0001744Splenomegaly1ITCH CL E G H8373713890ORPHA:228426Syndromic multisystem autoimmune disease due to Itch deficiency3
HP:0003271HP:0001744Splenomegaly1ITK CL E G H37026171OMIM:613011LYMPHOPROLIFERATIVE SYNDROME 1; LPFS151
HP:0003271HP:0002240Hepatomegaly1ITK CL E G H37026171OMIM:613011LYMPHOPROLIFERATIVE SYNDROME 1; LPFS151
HP:0003271HP:0001744Splenomegaly1JAK1 CL E G H37166190OMIM:618999AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE12
HP:0003271HP:0002240Hepatomegaly1JAK1 CL E G H37166190OMIM:618999AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE12
HP:0003271HP:0002240Hepatomegaly1JAK2 CL E G H37176192ORPHA:131Budd-Chiari syndromeHP:0040282 - Frequent57
HP:0003271HP:0001744Splenomegaly1JAK2 CL E G H37176192ORPHA:131Budd-Chiari syndromeHP:0040281 - Very frequent57
HP:0003271HP:0001744Splenomegaly1JAK2 CL E G H37176192OMIM:133100Erythrocytosis, familial, 1.57
HP:0003271HP:0001744Splenomegaly1JAK2 CL E G H37176192ORPHA:3318Essential thrombocythemiaHP:0040282 - Frequent57
HP:0003271HP:0001744Splenomegaly1JAK2 CL E G H37176192ORPHA:71493Familial thrombocytosisHP:0040282 - Frequent57
HP:0003271HP:0001744Splenomegaly1JAK2 CL E G H37176192OMIM:254450Myelofibrosismyelofibrosis with myeloid metaplasia, included57
HP:0003271HP:0001744Splenomegaly1JAK2 CL E G H37176192ORPHA:729Polycythemia veraHP:0040281 - Very frequent57
HP:0003271HP:0001744Splenomegaly1JAK2 CL E G H37176192OMIM:263300Polycythemia vera.57
HP:0003271HP:0002240Hepatomegaly1JAK2 CL E G H37176192ORPHA:729Polycythemia veraHP:0040281 - Very frequent57
HP:0003271HP:0001744Splenomegaly1JAK2 CL E G H37176192ORPHA:824Primary myelofibrosisHP:0040282 - Frequent57
HP:0003271HP:0002240Hepatomegaly1JAK2 CL E G H37176192ORPHA:824Primary myelofibrosisHP:0040282 - Frequent57
HP:0003271HP:0001744Splenomegaly1JAK3 CL E G H37186193ORPHA:35078T-B+ severe combined immunodeficiency due to JAK3 deficiency140
HP:0003271HP:0002240Hepatomegaly1JAK3 CL E G H37186193ORPHA:35078T-B+ severe combined immunodeficiency due to JAK3 deficiency140
HP:0003271HP:0002240Hepatomegaly1JAM2 CL E G H5849414686ORPHA:1980Bilateral striopallidodentate calcinosisHP:0040281 - Very frequent
HP:0003271HP:0002240Hepatomegaly1JAM3 CL E G H8370015532OMIM:613730Hemorrhagic destruction of the brain, subependymal calcification,and cataracts.4
HP:0003271HP:0001744Splenomegaly1JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional2
HP:0003271HP:0002240Hepatomegaly1KCNH1 CL E G H37566250ORPHA:3473Zimmermann-Laband syndromeHP:0040283 - Occasional13
HP:0003271HP:0001744Splenomegaly1KCNH1 CL E G H37566250ORPHA:3473Zimmermann-Laband syndromeHP:0040283 - Occasional13
HP:0003271HP:0001744Splenomegaly1KCNH1 CL E G H37566250OMIM:135500Zimmermann-Laband syndrome 1.13
HP:0003271HP:0002240Hepatomegaly1KCNH1 CL E G H37566250OMIM:135500Zimmermann-Laband syndrome 1.13
HP:0003271HP:0002240Hepatomegaly1KCNJ11 CL E G H37676257ORPHA:276580Autosomal dominant hyperinsulinism due to Kir6.2 deficiencyHP:0040283 - Occasional127
HP:0003271HP:0002240Hepatomegaly1KCNN3 CL E G H37826292ORPHA:3473Zimmermann-Laband syndromeHP:0040283 - Occasional7
HP:0003271HP:0001744Splenomegaly1KCNN3 CL E G H37826292ORPHA:3473Zimmermann-Laband syndromeHP:0040283 - Occasional7
HP:0003271HP:0001744Splenomegaly1KCNN4 CL E G H37836293ORPHA:3202Dehydrated hereditary stomatocytosisHP:0040282 - Frequent3
HP:0003271HP:0002240Hepatomegaly1KCNN4 CL E G H37836293OMIM:616689Dehydrated hereditary stomatocytosis 2.3
HP:0003271HP:0001744Splenomegaly1KCNN4 CL E G H37836293OMIM:616689Dehydrated hereditary stomatocytosis 2.3
HP:0003271HP:0002240Hepatomegaly1KCNQ1 CL E G H37846294OMIM:130650Beckwith-Wiedemann syndrome.730
HP:0003271HP:0002240Hepatomegaly1KCNQ1OT1 CL E G H109846295OMIM:130650Beckwith-Wiedemann syndrome.1
HP:0003271HP:0002240Hepatomegaly1KIF12 CL E G H11322021495OMIM:619662CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC81
HP:0003271HP:0002240Hepatomegaly1KIF20A CL E G H101129787OMIM:619433CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6; RCM6
HP:0003271HP:0002240Hepatomegaly1KIF20A CL E G H101129787ORPHA:75249Familial isolated restrictive cardiomyopathyHP:0040283 - Occasional
HP:0003271HP:0002240Hepatomegaly1KIF3B CL E G H93716320OMIM:618955RETINITIS PIGMENTOSA 89; RP89
HP:0003271HP:0001744Splenomegaly1KIF3B CL E G H93716320OMIM:618955RETINITIS PIGMENTOSA 89; RP89
HP:0003271HP:0001744Splenomegaly1KIT CL E G H38156342ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040283 - Occasional327
HP:0003271HP:0002240Hepatomegaly1KIT CL E G H38156342ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040283 - Occasional327
HP:0003271HP:0001744Splenomegaly1KLF1 CL E G H106616345OMIM:613673Anemia, dyserythropoietic congenital, type IV.42
HP:0003271HP:0002240Hepatomegaly1KLF1 CL E G H106616345OMIM:613673Anemia, dyserythropoietic congenital, type IV.42
HP:0003271HP:0002240Hepatomegaly1KLF1 CL E G H106616345ORPHA:46532Hereditary persistence of fetal hemoglobin-beta-thalassemia syndromeHP:0040282 - Frequent42
HP:0003271HP:0001744Splenomegaly1KLF1 CL E G H106616345ORPHA:46532Hereditary persistence of fetal hemoglobin-beta-thalassemia syndromeHP:0040281 - Very frequent42
HP:0003271HP:0001744Splenomegaly1KLF1 CL E G H106616345ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome42
HP:0003271HP:0001744Splenomegaly1KLRC4 CL E G H83026377ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0003271HP:0001744Splenomegaly1KPTN CL E G H111336404ORPHA:397612Macrocephaly-developmental delay syndrome13
HP:0003271HP:0002240Hepatomegaly1KPTN CL E G H111336404ORPHA:397612Macrocephaly-developmental delay syndrome13
HP:0003271HP:0002240Hepatomegaly1KPTN CL E G H111336404OMIM:615637Mental retardation, autosomal recessive 4113
HP:0003271HP:0001744Splenomegaly1KPTN CL E G H111336404OMIM:615637Mental retardation, autosomal recessive 4113
HP:0003271HP:0001744Splenomegaly1KRAS CL E G H38456407ORPHA:1333Familial pancreatic carcinoma196
HP:0003271HP:0002240Hepatomegaly1KRAS CL E G H38456407ORPHA:1333Familial pancreatic carcinoma196
HP:0003271HP:0002240Hepatomegaly1KRAS CL E G H38456407ORPHA:648Noonan syndromeHP:0040282 - Frequent196
HP:0003271HP:0001744Splenomegaly1KRAS CL E G H38456407OMIM:614470RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic.196
HP:0003271HP:0002240Hepatomegaly1KRAS CL E G H38456407OMIM:614470RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic.196
HP:0003271HP:0002240Hepatomegaly1LACC1 CL E G H14481126789ORPHA:85414Systemic-onset juvenile idiopathic arthritisHP:0040283 - Occasional1
HP:0003271HP:0001744Splenomegaly1LACC1 CL E G H14481126789ORPHA:85414Systemic-onset juvenile idiopathic arthritisHP:0040283 - Occasional1
HP:0003271HP:0002240Hepatomegaly1LAMA5 CL E G H39116485OMIM:6200765
HP:0003271HP:0002240Hepatomegaly1LARS1 CL E G H515206512OMIM:615438Infantile liver failure syndrome 1.
HP:0003271HP:0001744Splenomegaly1LAT CL E G H2704018874OMIM:617514Immunodeficiency 522
HP:0003271HP:0002240Hepatomegaly1LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0003271HP:0001744Splenomegaly1LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0003271HP:0001744Splenomegaly1LBR CL E G H39306518OMIM:613471Reynolds syndrome.70
HP:0003271HP:0002240Hepatomegaly1LBR CL E G H39306518OMIM:613471Reynolds syndrome.70
HP:0003271HP:0002240Hepatomegaly1LBR CL E G H39306518ORPHA:779Reynolds syndromeHP:0040281 - Very frequent70
HP:0003271HP:0001744Splenomegaly1LCAT CL E G H39316522ORPHA:79292Fish-eye diseaseHP:0040283 - Occasional26
HP:0003271HP:0002240Hepatomegaly1LCAT CL E G H39316522ORPHA:79292Fish-eye diseaseHP:0040283 - Occasional26
HP:0003271HP:0002240Hepatomegaly1LIG4 CL E G H39816601ORPHA:99812LIG4 syndromeHP:0040283 - Occasional88
HP:0003271HP:0001744Splenomegaly1LIG4 CL E G H39816601ORPHA:39041Omenn syndromeHP:0040282 - Frequent88
HP:0003271HP:0002240Hepatomegaly1LIG4 CL E G H39816601ORPHA:39041Omenn syndromeHP:0040281 - Very frequent88
HP:0003271HP:0001744Splenomegaly1LIPA CL E G H39886617ORPHA:75234Cholesteryl ester storage diseaseHP:0040282 - Frequent73
HP:0003271HP:0002240Hepatomegaly1LIPA CL E G H39886617ORPHA:75234Cholesteryl ester storage diseaseHP:0040281 - Very frequent73
HP:0003271HP:0002240Hepatomegaly1LIPA CL E G H39886617OMIM:278000Lysosomal acid lipase deficiency73
HP:0003271HP:0001744Splenomegaly1LIPA CL E G H39886617OMIM:278000Lysosomal acid lipase deficiency73
HP:0003271HP:0001744Splenomegaly1LIPA CL E G H39886617ORPHA:75233Wolman diseaseHP:0040282 - Frequent73
HP:0003271HP:0002240Hepatomegaly1LIPA CL E G H39886617ORPHA:75233Wolman diseaseHP:0040281 - Very frequent73
HP:0003271HP:0002240Hepatomegaly1LIPE CL E G H39916621ORPHA:435660LIPE-related familial partial lipodystrophyHP:0040281 - Very frequent7
HP:0003271HP:0002240Hepatomegaly1LMBRD1 CL E G H5578823038OMIM:277380Methylmalonic aciduria and homocystinuria, Cblf type46
HP:0003271HP:0002240Hepatomegaly1LMNA CL E G H40006636ORPHA:280365Autosomal semi-dominant severe lipodystrophic laminopathyHP:0040281 - Very frequent645
HP:0003271HP:0001744Splenomegaly1LMNA CL E G H40006636ORPHA:280365Autosomal semi-dominant severe lipodystrophic laminopathyHP:0040283 - Occasional645
HP:0003271HP:0002240Hepatomegaly1LMNA CL E G H40006636ORPHA:2348Familial partial lipodystrophy, Dunnigan typeHP:0040281 - Very frequent645
HP:0003271HP:0001744Splenomegaly1LMNA CL E G H40006636ORPHA:2348Familial partial lipodystrophy, Dunnigan typeHP:0040283 - Occasional645
HP:0003271HP:0002240Hepatomegaly1LMNA CL E G H40006636ORPHA:79084Familial partial lipodystrophy, Köbberling typeHP:0040282 - Frequent645
HP:0003271HP:0002240Hepatomegaly1LMNA CL E G H40006636OMIM:151660Lipodystrophy, familial partial, type 2.645
HP:0003271HP:0002240Hepatomegaly1LMNA CL E G H40006636OMIM:248370Mandibuloacral dysplasia645
HP:0003271HP:0001744Splenomegaly1LPIN2 CL E G H966314450ORPHA:77297Majeed syndromeHP:0040282 - Frequent186
HP:0003271HP:0002240Hepatomegaly1LPIN2 CL E G H966314450ORPHA:77297Majeed syndromeHP:0040282 - Frequent186
HP:0003271HP:0001744Splenomegaly1LPIN2 CL E G H966314450OMIM:609628MAJEED SYNDROME; MJDS186
HP:0003271HP:0002240Hepatomegaly1LPIN2 CL E G H966314450OMIM:609628MAJEED SYNDROME; MJDS186
HP:0003271HP:0001744Splenomegaly1LPL CL E G H40236677OMIM:238600Type I hyperlipoproteinemia.106
HP:0003271HP:0002240Hepatomegaly1LPL CL E G H40236677OMIM:238600Type I hyperlipoproteinemia106
HP:0003271HP:0001744Splenomegaly1LRBA CL E G H9871742OMIM:614700IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID845
HP:0003271HP:0002240Hepatomegaly1LRP5 CL E G H40416697ORPHA:2924Isolated polycystic liver diseaseHP:0040281 - Very frequent125
HP:0003271HP:0002240Hepatomegaly1LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndrome
HP:0003271HP:0001744Splenomegaly1LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndrome
HP:0003271HP:0002240Hepatomegaly1LTBP3 CL E G H40546716OMIM:617809Geleophysic dysplasia 3.12
HP:0003271HP:0002240Hepatomegaly1LYRM4 CL E G H5712821365OMIM:615595Combined oxidative phosphorylation deficiency 194
HP:0003271HP:0002240Hepatomegaly1LYST CL E G H11301968ORPHA:167Chédiak-Higashi syndrome239
HP:0003271HP:0001744Splenomegaly1LYST CL E G H11301968ORPHA:167Chédiak-Higashi syndromeHP:0040282 - Frequent239
HP:0003271HP:0002240Hepatomegaly1LYST CL E G H11301968OMIM:214500Chediak-Higashi syndrome239
HP:0003271HP:0001744Splenomegaly1LYST CL E G H11301968OMIM:214500Chediak-Higashi syndrome239
HP:0003271HP:0002240Hepatomegaly1LYZ CL E G H40696740OMIM:105200Amyloidosis, familial visceral.32
HP:0003271HP:0001744Splenomegaly1LYZ CL E G H40696740OMIM:105200Amyloidosis, familial visceral.32
HP:0003271HP:0002240Hepatomegaly1LZTR1 CL E G H82166742ORPHA:648Noonan syndromeHP:0040282 - Frequent43
HP:0003271HP:0002240Hepatomegaly1MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0003271HP:0002240Hepatomegaly1MADD CL E G H85676766OMIM:619005NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH5
HP:0003271HP:0002240Hepatomegaly1MAGT1 CL E G H8406128880OMIM:301031CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc; CDG1CC17
HP:0003271HP:0001744Splenomegaly1MAGT1 CL E G H8406128880OMIM:300853IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN17
HP:0003271HP:0001744Splenomegaly1MAN2B1 CL E G H41256826OMIM:248500Alpha-mannosidosis.136
HP:0003271HP:0002240Hepatomegaly1MAN2B1 CL E G H41256826OMIM:248500Alpha-mannosidosis.136
HP:0003271HP:0002240Hepatomegaly1MAN2B1 CL E G H41256826ORPHA:309288Alpha-mannosidosis, adult form136
HP:0003271HP:0001744Splenomegaly1MAN2B1 CL E G H41256826ORPHA:309288Alpha-mannosidosis, adult form136
HP:0003271HP:0002240Hepatomegaly1MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile form136
HP:0003271HP:0001744Splenomegaly1MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile form136
HP:0003271HP:0002240Hepatomegaly1MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities
HP:0003271HP:0002240Hepatomegaly1MARS1 CL E G H41416898OMIM:615486Interstitial lung and liver disease.
HP:0003271HP:0002240Hepatomegaly1MCM4 CL E G H41736947OMIM:609981Immunodeficiency 54.69
HP:0003271HP:0001744Splenomegaly1MCM4 CL E G H41736947OMIM:609981Immunodeficiency 54.69
HP:0003271HP:0002240Hepatomegaly1MED12 CL E G H996811957OMIM:301068HARDIKAR SYNDROME; HDKR228
HP:0003271HP:0001744Splenomegaly1MED12 CL E G H996811957OMIM:301068HARDIKAR SYNDROME; HDKR228
HP:0003271HP:0001744Splenomegaly1MEFV CL E G H42106998ORPHA:117Behçet diseaseHP:0040283 - Occasional281
HP:0003271HP:0001744Splenomegaly1MEFV CL E G H42106998ORPHA:342Familial Mediterranean feverHP:0040283 - Occasional281
HP:0003271HP:0002240Hepatomegaly1MEFV CL E G H42106998OMIM:249100Familial Mediterranean fever, AR.281
HP:0003271HP:0001744Splenomegaly1MEFV CL E G H42106998OMIM:249100Familial Mediterranean fever, AR281
HP:0003271HP:0002240Hepatomegaly1MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0003271HP:0001744Splenomegaly1MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0003271HP:0002240Hepatomegaly1MET CL E G H42337029ORPHA:33402Pediatric hepatocellular carcinomaHP:0040281 - Very frequent375
HP:0003271HP:0002240Hepatomegaly1MFN2 CL E G H992716877ORPHA:2398Multiple symmetric lipomatosisHP:0040282 - Frequent203
HP:0003271HP:0002240Hepatomegaly1MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0003271HP:0001744Splenomegaly1MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0003271HP:0002240Hepatomegaly1MIF CL E G H42827097ORPHA:85414Systemic-onset juvenile idiopathic arthritisHP:0040283 - Occasional1
HP:0003271HP:0001744Splenomegaly1MIF CL E G H42827097ORPHA:85414Systemic-onset juvenile idiopathic arthritisHP:0040283 - Occasional1
HP:0003271HP:0001744Splenomegaly1MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1.127
HP:0003271HP:0002240Hepatomegaly1MMAA CL E G H16678518871OMIM:251100Methylmalonic aciduria, Cbla type.113
HP:0003271HP:0002240Hepatomegaly1MMAB CL E G H32662519331OMIM:251110Methylmalonic aciduria, Cblb type.127
HP:0003271HP:0002240Hepatomegaly1MMUT CL E G H45947526OMIM:251000Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency.
HP:0003271HP:0001744Splenomegaly1MMUT CL E G H45947526ORPHA:79312Vitamin B12-unresponsive methylmalonic acidemia type mut-HP:0040282 - Frequent
HP:0003271HP:0002240Hepatomegaly1MMUT CL E G H45947526ORPHA:79312Vitamin B12-unresponsive methylmalonic acidemia type mut-HP:0040283 - Occasional
HP:0003271HP:0002240Hepatomegaly1MMUT CL E G H45947526ORPHA:289916Vitamin B12-unresponsive methylmalonic acidemia type mut0HP:0040282 - Frequent
HP:0003271HP:0002240Hepatomegaly1MOGS CL E G H784124862OMIM:606056Congenital disorder of glycosylation, type IIB.37
HP:0003271HP:0002240Hepatomegaly1MOGS CL E G H784124862ORPHA:79330MOGS-CDGHP:0040283 - Occasional37
HP:0003271HP:0001744Splenomegaly1MOGS CL E G H784124862ORPHA:79330MOGS-CDG37
HP:0003271HP:0002240Hepatomegaly1MPC1 CL E G H5166021606OMIM:614741Mitochondrial pyruvate carrier deficiency.6
HP:0003271HP:0002240Hepatomegaly1MPI CL E G H43517216OMIM:602579Congenital disorder of glycosylation, type Ib.51
HP:0003271HP:0002240Hepatomegaly1MPI CL E G H43517216ORPHA:79319MPI-CDGHP:0040281 - Very frequent51
HP:0003271HP:0001744Splenomegaly1MPIG6B CL E G H8073913937OMIM:617441Thrombocytopenia, anemia, and myelofibrosisHP:0040283 - Occasional1
HP:0003271HP:0001744Splenomegaly1MPL CL E G H43527217ORPHA:3318Essential thrombocythemiaHP:0040282 - Frequent97
HP:0003271HP:0001744Splenomegaly1MPL CL E G H43527217ORPHA:71493Familial thrombocytosisHP:0040282 - Frequent97
HP:0003271HP:0001744Splenomegaly1MPL CL E G H43527217OMIM:254450Myelofibrosismyelofibrosis with myeloid metaplasia, included97
HP:0003271HP:0002240Hepatomegaly1MPL CL E G H43527217ORPHA:729Polycythemia veraHP:0040281 - Very frequent97
HP:0003271HP:0001744Splenomegaly1MPL CL E G H43527217ORPHA:729Polycythemia veraHP:0040281 - Very frequent97
HP:0003271HP:0002240Hepatomegaly1MPL CL E G H43527217ORPHA:824Primary myelofibrosisHP:0040282 - Frequent97
HP:0003271HP:0001744Splenomegaly1MPL CL E G H43527217ORPHA:824Primary myelofibrosisHP:0040282 - Frequent97
HP:0003271HP:0002240Hepatomegaly1MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy.56
HP:0003271HP:0002240Hepatomegaly1MRAS CL E G H228087227ORPHA:648Noonan syndromeHP:0040282 - Frequent
HP:0003271HP:0002240Hepatomegaly1MRPL3 CL E G H1122210379OMIM:614582COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD913
HP:0003271HP:0002240Hepatomegaly1MRPS28 CL E G H2895714513OMIM:618958COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0003271HP:0002240Hepatomegaly1MRPS7 CL E G H5108114499OMIM:617872Combined oxidative phosphorylation deficiency 34.12
HP:0003271HP:0001744Splenomegaly1MS4A1 CL E G H9317315ORPHA:1572Common variable immunodeficiencyHP:0040282 - Frequent1
HP:0003271HP:0001744Splenomegaly1MST1 CL E G H44857380ORPHA:171Primary sclerosing cholangitisHP:0040282 - Frequent1
HP:0003271HP:0002240Hepatomegaly1MST1 CL E G H44857380ORPHA:171Primary sclerosing cholangitisHP:0040282 - Frequent1
HP:0003271HP:0002240Hepatomegaly1MTTP CL E G H45477467ORPHA:14AbetalipoproteinemiaHP:0040283 - Occasional81
HP:0003271HP:0002240Hepatomegaly1MTX2 CL E G H106517506OMIM:619127MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0003271HP:0001744Splenomegaly1MVK CL E G H45987530OMIM:260920Hyper-Igd syndrome150
HP:0003271HP:0002240Hepatomegaly1MVK CL E G H45987530OMIM:260920Hyper-Igd syndrome150
HP:0003271HP:0002240Hepatomegaly1MVK CL E G H45987530ORPHA:343Hyperimmunoglobulinemia D with periodic feverHP:0040281 - Very frequent150
HP:0003271HP:0001744Splenomegaly1MVK CL E G H45987530ORPHA:29Mevalonic aciduriaHP:0040281 - Very frequent150
HP:0003271HP:0002240Hepatomegaly1MVK CL E G H45987530OMIM:610377Mevalonic aciduria150
HP:0003271HP:0001744Splenomegaly1MVK CL E G H45987530OMIM:610377Mevalonic aciduria150
HP:0003271HP:0002240Hepatomegaly1MYBPC3 CL E G H46077551OMIM:115197Cardiomyopathy, familial hypertrophic, 4.1143
HP:0003271HP:0001744Splenomegaly1MYD88 CL E G H46157562ORPHA:33226Waldenström macroglobulinemiaHP:0040283 - Occasional9
HP:0003271HP:0002240Hepatomegaly1MYD88 CL E G H46157562ORPHA:33226Waldenström macroglobulinemiaHP:0040283 - Occasional9
HP:0003271HP:0002240Hepatomegaly1MYL2 CL E G H46337583OMIM:619424MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12131
HP:0003271HP:0001744Splenomegaly1MYO5B CL E G H46457603OMIM:619868192
HP:0003271HP:0002240Hepatomegaly1MYO5B CL E G H46457603OMIM:619868192
HP:0003271HP:0002240Hepatomegaly1MYORG CL E G H5746219918ORPHA:1980Bilateral striopallidodentate calcinosisHP:0040281 - Very frequent
HP:0003271HP:0002240Hepatomegaly1MYPN CL E G H8466523246ORPHA:75249Familial isolated restrictive cardiomyopathyHP:0040283 - Occasional217
HP:0003271HP:0002240Hepatomegaly1NAGA CL E G H46687631ORPHA:79279Alpha-N-acetylgalactosaminidase deficiency type 1HP:0040283 - Occasional47
HP:0003271HP:0002240Hepatomegaly1NAGA CL E G H46687631ORPHA:79281Alpha-N-acetylgalactosaminidase deficiency type 3HP:0040282 - Frequent47
HP:0003271HP:0001744Splenomegaly1NAGLU CL E G H46697632OMIM:252920Mucopolysaccharidosis type IIIB.72
HP:0003271HP:0002240Hepatomegaly1NAGLU CL E G H46697632OMIM:252920Mucopolysaccharidosis type IIIB.72
HP:0003271HP:0002240Hepatomegaly1NAGS CL E G H16241717996ORPHA:927Hyperammonemia due to N-acetylglutamate synthase deficiencyHP:0040284 - Very rare36
HP:0003271HP:0001744Splenomegaly1NBEAL2 CL E G H2321831928ORPHA:721Gray platelet syndromeHP:0040282 - Frequent127
HP:0003271HP:0001744Splenomegaly1NBEAL2 CL E G H2321831928OMIM:139090Gray platelet syndrome.127
HP:0003271HP:0002240Hepatomegaly1NCF1 CL E G H6533617660ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent13
HP:0003271HP:0001744Splenomegaly1NCF1 CL E G H6533617660ORPHA:379Chronic granulomatous diseaseHP:0040283 - Occasional13
HP:0003271HP:0002240Hepatomegaly1NCF1 CL E G H6533617660OMIM:233700Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I.13
HP:0003271HP:0001744Splenomegaly1NCF1 CL E G H6533617660OMIM:233700Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I.13
HP:0003271HP:0001744Splenomegaly1NCF2 CL E G H46887661ORPHA:379Chronic granulomatous diseaseHP:0040283 - Occasional67
HP:0003271HP:0002240Hepatomegaly1NCF2 CL E G H46887661ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent67
HP:0003271HP:0002240Hepatomegaly1NCF2 CL E G H46887661OMIM:233710Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II.67
HP:0003271HP:0001744Splenomegaly1NCF2 CL E G H46887661OMIM:233710Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II.67
HP:0003271HP:0001744Splenomegaly1NCF4 CL E G H46897662ORPHA:379Chronic granulomatous diseaseHP:0040283 - Occasional37
HP:0003271HP:0002240Hepatomegaly1NCF4 CL E G H46897662ORPHA:379Chronic granulomatous diseaseHP:0040281 - Very frequent37
HP:0003271HP:0001744Splenomegaly1NCKAP1L CL E G H30714862OMIM:618982IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0003271HP:0002240Hepatomegaly1NCKAP1L CL E G H30714862OMIM:618982IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0003271HP:0002240Hepatomegaly1ND1 CL E G H45357455ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0003271HP:0002240Hepatomegaly1ND1 CL E G H45357455ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0003271HP:0002240Hepatomegaly1ND2 CL E G H45367456ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0003271HP:0002240Hepatomegaly1ND2 CL E G H45367456ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0003271HP:0002240Hepatomegaly1ND3 CL E G H45377458ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0003271HP:0002240Hepatomegaly1ND3 CL E G H45377458ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0003271HP:0002240Hepatomegaly1ND4 CL E G H45387459ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0003271HP:0002240Hepatomegaly1ND5 CL E G H45407461ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0003271HP:0002240Hepatomegaly1ND6 CL E G H45417462ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0003271HP:0002240Hepatomegaly1NDUFA1 CL E G H46947683ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent7
HP:0003271HP:0002240Hepatomegaly1NDUFA11 CL E G H12632820371ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent32
HP:0003271HP:0002240Hepatomegaly1NDUFA6 CL E G H47007690ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent1
HP:0003271HP:0002240Hepatomegaly1NDUFAF1 CL E G H5110318828ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent40
HP:0003271HP:0002240Hepatomegaly1NDUFAF1 CL E G H5110318828OMIM:618234Mitochondrial complex I deficiency, nuclear type 11.40
HP:0003271HP:0002240Hepatomegaly1NDUFAF2 CL E G H9194228086ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent26
HP:0003271HP:0002240Hepatomegaly1NDUFAF3 CL E G H2591529918ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent31
HP:0003271HP:0002240Hepatomegaly1NDUFAF4 CL E G H2907821034ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent50
HP:0003271HP:0002240Hepatomegaly1NDUFAF5 CL E G H7913315899ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent34
HP:0003271HP:0002240Hepatomegaly1NDUFAF8 CL E G H28418433551ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0003271HP:0002240Hepatomegaly1NDUFB10 CL E G H47167696ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0003271HP:0002240Hepatomegaly1NDUFB11 CL E G H5453920372ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent3
HP:0003271HP:0002240Hepatomegaly1NDUFB3 CL E G H47097698ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent9
HP:0003271HP:0002240Hepatomegaly1NDUFB9 CL E G H47157704ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent16
HP:0003271HP:0002240Hepatomegaly1NDUFS1 CL E G H47197707ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent81
HP:0003271HP:0002240Hepatomegaly1NDUFS2 CL E G H47207708ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent65
HP:0003271HP:0002240Hepatomegaly1NDUFS3 CL E G H47227710ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent22
HP:0003271HP:0002240Hepatomegaly1NDUFS4 CL E G H47247711ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent27
HP:0003271HP:0001744Splenomegaly1NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 127
HP:0003271HP:0002240Hepatomegaly1NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 127
HP:0003271HP:0002240Hepatomegaly1NDUFS6 CL E G H47267713ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent21
HP:0003271HP:0002240Hepatomegaly1NDUFS7 CL E G H3742917714ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent38
HP:0003271HP:0002240Hepatomegaly1NDUFS7 CL E G H3742917714OMIM:618224Mitochondrial complex I deficiency, nuclear type 3.38
HP:0003271HP:0002240Hepatomegaly1NDUFS8 CL E G H47287715ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent42
HP:0003271HP:0002240Hepatomegaly1NDUFV1 CL E G H47237716ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent74
HP:0003271HP:0002240Hepatomegaly1NDUFV2 CL E G H47297717ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent27
HP:0003271HP:0002240Hepatomegaly1NEK8 CL E G H28408613387OMIM:615415Renal-Hepatic-Pancreatic dysplasia 2.43
HP:0003271HP:0001744Splenomegaly1NEU1 CL E G H47587758ORPHA:93400Congenital sialidosis type 243
HP:0003271HP:0002240Hepatomegaly1NEU1 CL E G H47587758ORPHA:93400Congenital sialidosis type 2HP:0040284 - Very rare43
HP:0003271HP:0002240Hepatomegaly1NEU1 CL E G H47587758ORPHA:93399Juvenile sialidosis type 2HP:0040283 - Occasional43
HP:0003271HP:0001744Splenomegaly1NEU1 CL E G H47587758ORPHA:93399Juvenile sialidosis type 243
HP:0003271HP:0001744Splenomegaly1NEU1 CL E G H47587758OMIM:256550Neuraminidase deficiency.43
HP:0003271HP:0002240Hepatomegaly1NEU1 CL E G H47587758OMIM:256550Neuraminidase deficiency.43
HP:0003271HP:0001744Splenomegaly1NEU1 CL E G H47587758ORPHA:812Sialidosis type 1HP:0040281 - Very frequent43
HP:0003271HP:0001744Splenomegaly1NFKB1 CL E G H47907794ORPHA:1572Common variable immunodeficiencyHP:0040282 - Frequent7
HP:0003271HP:0001744Splenomegaly1NFKB2 CL E G H47917795ORPHA:1572Common variable immunodeficiencyHP:0040282 - Frequent11
HP:0003271HP:0001744Splenomegaly1NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040283 - Occasional32
HP:0003271HP:0002240Hepatomegaly1NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040283 - Occasional32
HP:0003271HP:0002240Hepatomegaly1NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0003271HP:0001744Splenomegaly1NHLRC2 CL E G H37435424731OMIM:618278Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0003271HP:0002240Hepatomegaly1NHLRC2 CL E G H37435424731OMIM:618278Fibrosis, neurodegeneration, and cerebral angiomatosis.
HP:0003271HP:0002240Hepatomegaly1NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional27
HP:0003271HP:0001744Splenomegaly1NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional27
HP:0003271HP:0001744Splenomegaly1NLRC4 CL E G H5848416412OMIM:616050AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC30
HP:0003271HP:0002240Hepatomegaly1NLRP1 CL E G H2286114374OMIM:617388AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK37
HP:0003271HP:0001744Splenomegaly1NLRP1 CL E G H2286114374OMIM:617388AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK37
HP:0003271HP:0001744Splenomegaly1NLRP12 CL E G H9166222938OMIM:611762Familial cold autoinflammatory syndrome 299
HP:0003271HP:0002240Hepatomegaly1NLRP3 CL E G H11454816400ORPHA:1451CINCA syndromeHP:0040282 - Frequent217
HP:0003271HP:0001744Splenomegaly1NLRP3 CL E G H11454816400ORPHA:1451CINCA syndromeHP:0040282 - Frequent217
HP:0003271HP:0001744Splenomegaly1NLRP3 CL E G H11454816400OMIM:607115CINCA SYNDROME; CINCA217
HP:0003271HP:0002240Hepatomegaly1NLRP3 CL E G H11454816400OMIM:607115CINCA SYNDROME; CINCA217
HP:0003271HP:0001744Splenomegaly1NLRP3 CL E G H11454816400ORPHA:575Muckle-Wells syndromeHP:0040281 - Very frequent217
HP:0003271HP:0002240Hepatomegaly1NLRP3 CL E G H11454816400ORPHA:575Muckle-Wells syndromeHP:0040281 - Very frequent217
HP:0003271HP:0001744Splenomegaly1NOD2 CL E G H641275331ORPHA:90340Blau syndromeHP:0040283 - Occasional187
HP:0003271HP:0001744Splenomegaly1NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional17
HP:0003271HP:0002240Hepatomegaly1NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional17
HP:0003271HP:0001744Splenomegaly1NOTCH1 CL E G H48517881OMIM:616028Adams-Oliver syndrome 5HP:0040283 - Occasional452
HP:0003271HP:0002240Hepatomegaly1NOTCH2 CL E G H48537882ORPHA:955Hajdu-Cheney syndromeHP:0040283 - Occasional138
HP:0003271HP:0001744Splenomegaly1NOTCH2 CL E G H48537882ORPHA:955Hajdu-Cheney syndromeHP:0040283 - Occasional138
HP:0003271HP:0001744Splenomegaly1NPC1 CL E G H48647897OMIM:257220Niemann-pick disease, type C1258
HP:0003271HP:0002240Hepatomegaly1NPC1 CL E G H48647897OMIM:257220Niemann-pick disease, type C1258
HP:0003271HP:0002240Hepatomegaly1NPC2 CL E G H1057714537OMIM:607625Niemann-pick disease, type C2.33
HP:0003271HP:0001744Splenomegaly1NPC2 CL E G H1057714537OMIM:607625Niemann-pick disease, type C2.33
HP:0003271HP:0002240Hepatomegaly1NPHP3 CL E G H270317907OMIM:267010MECKEL SYNDROME, TYPE 7; MKS7157
HP:0003271HP:0001744Splenomegaly1NPHP3 CL E G H270317907OMIM:267010MECKEL SYNDROME, TYPE 7; MKS7157
HP:0003271HP:0001744Splenomegaly1NPHP3 CL E G H270317907OMIM:208540Renal-Hepatic-Pancreatic dysplasia157
HP:0003271HP:0002240Hepatomegaly1NPHP3 CL E G H270317907OMIM:208540Renal-Hepatic-Pancreatic dysplasia.157
HP:0003271HP:0002240Hepatomegaly1NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional12
HP:0003271HP:0001744Splenomegaly1NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional12
HP:0003271HP:0002240Hepatomegaly1NRAS CL E G H48937989ORPHA:648Noonan syndromeHP:0040282 - Frequent102
HP:0003271HP:0002240Hepatomegaly1NRAS CL E G H48937989OMIM:614470RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic.102
HP:0003271HP:0001744Splenomegaly1NRAS CL E G H48937989OMIM:614470RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic.102
HP:0003271HP:0002240Hepatomegaly1NSD2 CL E G H746812766OMIM:619695RAUCH-STEINDL SYNDROME; RAUST118
HP:0003271HP:0002240Hepatomegaly1NUBPL CL E G H8022420278ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent89
HP:0003271HP:0001744Splenomegaly1OAS1 CL E G H49388086OMIM:618042Pulmonary alveolar proteinosis with hypogammaglobulinemia2
HP:0003271HP:0001744Splenomegaly1OCLN CL E G H1005066588104OMIM:251290Band-Like calcification with simplified gyration and polymicrogyria.23
HP:0003271HP:0002240Hepatomegaly1OCLN CL E G H1005066588104OMIM:251290Band-Like calcification with simplified gyration and polymicrogyria.23
HP:0003271HP:0001744Splenomegaly1OSTM1 CL E G H2896221652OMIM:259720Osteopetrosis, autosomal recessive 5.73
HP:0003271HP:0002240Hepatomegaly1OSTM1 CL E G H2896221652OMIM:259720Osteopetrosis, autosomal recessive 5.73
HP:0003271HP:0001744Splenomegaly1OTC CL E G H50098512ORPHA:664Ornithine transcarbamylase deficiencyHP:0040281 - Very frequent369
HP:0003271HP:0002240Hepatomegaly1OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0003271HP:0001744Splenomegaly1PALB2 CL E G H7972826144ORPHA:1333Familial pancreatic carcinoma1349
HP:0003271HP:0002240Hepatomegaly1PALB2 CL E G H7972826144ORPHA:1333Familial pancreatic carcinoma1349
HP:0003271HP:0001744Splenomegaly1PALLD CL E G H2302217068ORPHA:1333Familial pancreatic carcinoma192
HP:0003271HP:0002240Hepatomegaly1PALLD CL E G H2302217068ORPHA:1333Familial pancreatic carcinoma192
HP:0003271HP:0002240Hepatomegaly1PARN CL E G H50738609ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional26
HP:0003271HP:0001744Splenomegaly1PARN CL E G H50738609ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional26
HP:0003271HP:0002240Hepatomegaly1PC CL E G H50918636OMIM:266150Pyruvate carboxylase deficiency.118
HP:0003271HP:0002240Hepatomegaly1PCCA CL E G H50958653OMIM:606054Propionic acidemia.96
HP:0003271HP:0002240Hepatomegaly1PCCA CL E G H50958653ORPHA:35Propionic acidemiaHP:0040282 - Frequent96
HP:0003271HP:0002240Hepatomegaly1PCCB CL E G H50968654ORPHA:35Propionic acidemiaHP:0040282 - Frequent92
HP:0003271HP:0002240Hepatomegaly1PCCB CL E G H50968654OMIM:606054Propionic acidemia.92
HP:0003271HP:0002240Hepatomegaly1PCK1 CL E G H51058724OMIM:261680Phosphoenolpyruvate carboxykinase deficiency, cytosolic.53
HP:0003271HP:0002240Hepatomegaly1PDGFB CL E G H51558800ORPHA:1980Bilateral striopallidodentate calcinosisHP:0040281 - Very frequent9
HP:0003271HP:0001744Splenomegaly1PDGFRA CL E G H51568803OMIM:607685Hypereosinophilic syndrome, idiopathic.337
HP:0003271HP:0002240Hepatomegaly1PDGFRA CL E G H51568803OMIM:607685Hypereosinophilic syndrome, idiopathic.337
HP:0003271HP:0002240Hepatomegaly1PDGFRB CL E G H51598804ORPHA:1980Bilateral striopallidodentate calcinosisHP:0040281 - Very frequent28
HP:0003271HP:0001744Splenomegaly1PEPD CL E G H51848840OMIM:170100Prolidase deficiency66
HP:0003271HP:0001744Splenomegaly1PEPD CL E G H51848840ORPHA:742Prolidase deficiencyHP:0040283 - Occasional66
HP:0003271HP:0002240Hepatomegaly1PEPD CL E G H51848840ORPHA:742Prolidase deficiencyHP:0040283 - Occasional66
HP:0003271HP:0002240Hepatomegaly1PEPD CL E G H51848840OMIM:170100Prolidase deficiency66
HP:0003271HP:0002240Hepatomegaly1PEX1 CL E G H51898850ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent169
HP:0003271HP:0002240Hepatomegaly1PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger).169
HP:0003271HP:0002240Hepatomegaly1PEX1 CL E G H51898850OMIM:601539Peroxisome biogenesis disorder 1B.169
HP:0003271HP:0002240Hepatomegaly1PEX1 CL E G H51898850ORPHA:912Zellweger syndromeHP:0040281 - Very frequent169
HP:0003271HP:0002240Hepatomegaly1PEX10 CL E G H51928851ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent75
HP:0003271HP:0002240Hepatomegaly1PEX10 CL E G H51928851OMIM:614870Peroxisome biogenesis disorder 6A (Zellweger).75
HP:0003271HP:0002240Hepatomegaly1PEX10 CL E G H51928851ORPHA:912Zellweger syndromeHP:0040281 - Very frequent75
HP:0003271HP:0002240Hepatomegaly1PEX11B CL E G H87998853ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent4
HP:0003271HP:0002240Hepatomegaly1PEX11B CL E G H87998853ORPHA:912Zellweger syndromeHP:0040281 - Very frequent4
HP:0003271HP:0002240Hepatomegaly1PEX12 CL E G H51938854ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent65
HP:0003271HP:0002240Hepatomegaly1PEX12 CL E G H51938854OMIM:614859Peroxisome biogenesis disorder 3A (Zellweger).65
HP:0003271HP:0002240Hepatomegaly1PEX12 CL E G H51938854OMIM:266510Peroxisome biogenesis disorder 3B.65
HP:0003271HP:0002240Hepatomegaly1PEX12 CL E G H51938854ORPHA:912Zellweger syndromeHP:0040281 - Very frequent65
HP:0003271HP:0002240Hepatomegaly1PEX13 CL E G H51948855ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent66
HP:0003271HP:0002240Hepatomegaly1PEX13 CL E G H51948855ORPHA:912Zellweger syndromeHP:0040281 - Very frequent66
HP:0003271HP:0002240Hepatomegaly1PEX14 CL E G H51958856ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent46
HP:0003271HP:0002240Hepatomegaly1PEX14 CL E G H51958856OMIM:614887Peroxisome biogenesis disorder 13A (Zellweger).46
HP:0003271HP:0002240Hepatomegaly1PEX14 CL E G H51958856ORPHA:912Zellweger syndromeHP:0040281 - Very frequent46
HP:0003271HP:0002240Hepatomegaly1PEX16 CL E G H94098857ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent59
HP:0003271HP:0002240Hepatomegaly1PEX16 CL E G H94098857OMIM:614876Peroxisome biogenesis disorder 8A (Zellweger).59
HP:0003271HP:0002240Hepatomegaly1PEX16 CL E G H94098857ORPHA:912Zellweger syndromeHP:0040281 - Very frequent59
HP:0003271HP:0002240Hepatomegaly1PEX19 CL E G H58249713ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent62
HP:0003271HP:0002240Hepatomegaly1PEX19 CL E G H58249713ORPHA:912Zellweger syndromeHP:0040281 - Very frequent62
HP:0003271HP:0002240Hepatomegaly1PEX2 CL E G H58289717ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent82
HP:0003271HP:0001744Splenomegaly1PEX2 CL E G H58289717OMIM:614866Peroxisome biogenesis disorder 5A (Zellweger).82
HP:0003271HP:0002240Hepatomegaly1PEX2 CL E G H58289717OMIM:614866Peroxisome biogenesis disorder 5A (Zellweger).82
HP:0003271HP:0002240Hepatomegaly1PEX2 CL E G H58289717ORPHA:912Zellweger syndromeHP:0040281 - Very frequent82
HP:0003271HP:0002240Hepatomegaly1PEX26 CL E G H5567022965ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent106
HP:0003271HP:0002240Hepatomegaly1PEX26 CL E G H5567022965OMIM:614872Peroxisome biogenesis disorder 7A (zellweger).106
HP:0003271HP:0002240Hepatomegaly1PEX26 CL E G H5567022965ORPHA:912Zellweger syndromeHP:0040281 - Very frequent106
HP:0003271HP:0002240Hepatomegaly1PEX3 CL E G H85048858ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent47
HP:0003271HP:0002240Hepatomegaly1PEX3 CL E G H85048858OMIM:614882Peroxisome biogenesis disorder 10A (Zellweger).47
HP:0003271HP:0002240Hepatomegaly1PEX3 CL E G H85048858ORPHA:912Zellweger syndromeHP:0040281 - Very frequent47
HP:0003271HP:0002240Hepatomegaly1PEX5 CL E G H58309719ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent99
HP:0003271HP:0002240Hepatomegaly1PEX5 CL E G H58309719OMIM:214110Peroxisome biogenesis disorder 2A (Zellweger).99
HP:0003271HP:0002240Hepatomegaly1PEX5 CL E G H58309719ORPHA:912Zellweger syndromeHP:0040281 - Very frequent99
HP:0003271HP:0002240Hepatomegaly1PEX6 CL E G H51908859ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent98
HP:0003271HP:0002240Hepatomegaly1PEX6 CL E G H51908859OMIM:614862Peroxisome biogenesis disorder 4A (Zellweger).98
HP:0003271HP:0002240Hepatomegaly1PEX6 CL E G H51908859OMIM:614863Peroxisome biogenesis disorder 4B.98
HP:0003271HP:0002240Hepatomegaly1PEX6 CL E G H51908859ORPHA:912Zellweger syndromeHP:0040281 - Very frequent98
HP:0003271HP:0001744Splenomegaly1PEX7 CL E G H51918860ORPHA:773Refsum diseaseHP:0040282 - Frequent72
HP:0003271HP:0002240Hepatomegaly1PGM1 CL E G H52368905OMIM:614921Congenital disorder of glycosylation, type It58
HP:0003271HP:0001744Splenomegaly1PHKA2 CL E G H52568926ORPHA:264580Glycogen storage disease due to liver phosphorylase kinase deficiencyHP:0040284 - Very rare54
HP:0003271HP:0002240Hepatomegaly1PHKA2 CL E G H52568926ORPHA:264580Glycogen storage disease due to liver phosphorylase kinase deficiencyHP:0040281 - Very frequent54
HP:0003271HP:0002240Hepatomegaly1PHKA2 CL E G H52568926OMIM:306000Glycogen storage disease ixa.54
HP:0003271HP:0001744Splenomegaly1PHKA2 CL E G H52568926OMIM:306000Glycogen storage disease ixa54
HP:0003271HP:0001744Splenomegaly1PHKB CL E G H52578927ORPHA:79240Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency101
HP:0003271HP:0002240Hepatomegaly1PHKB CL E G H52578927ORPHA:79240Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency101
HP:0003271HP:0001744Splenomegaly1PHKB CL E G H52578927OMIM:261750Glycogen storage disease ixb101
HP:0003271HP:0002240Hepatomegaly1PHKB CL E G H52578927OMIM:261750Glycogen storage disease ixb.101
HP:0003271HP:0002240Hepatomegaly1PHKG2 CL E G H52618931ORPHA:264580Glycogen storage disease due to liver phosphorylase kinase deficiencyHP:0040281 - Very frequent48
HP:0003271HP:0001744Splenomegaly1PHKG2 CL E G H52618931ORPHA:264580Glycogen storage disease due to liver phosphorylase kinase deficiencyHP:0040284 - Very rare48
HP:0003271HP:0002240Hepatomegaly1PHKG2 CL E G H52618931OMIM:613027Glycogen storage disease IXc48
HP:0003271HP:0001744Splenomegaly1PHKG2 CL E G H52618931OMIM:613027Glycogen storage disease IXc.48
HP:0003271HP:0001744Splenomegaly1PHYH CL E G H52648940ORPHA:773Refsum diseaseHP:0040282 - Frequent45
HP:0003271HP:0001744Splenomegaly1PIEZO1 CL E G H978028993ORPHA:3202Dehydrated hereditary stomatocytosisHP:0040282 - Frequent36
HP:0003271HP:0002240Hepatomegaly1PIEZO1 CL E G H978028993OMIM:194380Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edemaHP:0040283 - Occasional36
HP:0003271HP:0001744Splenomegaly1PIEZO1 CL E G H978028993OMIM:194380Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edemaHP:0040283 - Occasional36
HP:0003271HP:0001744Splenomegaly1PIEZO1 CL E G H978028993OMIM:616843Lymphedema, hereditary, III36
HP:0003271HP:0002240Hepatomegaly1PIGA CL E G H52778957OMIM:300868Multiple congenital anomalies-hypotonia-seizures syndrome 2HP:0040283 - Occasional46
HP:0003271HP:0002240Hepatomegaly1PIGA CL E G H52778957OMIM:301072NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH46
HP:0003271HP:0001744Splenomegaly1PIGA CL E G H52778957OMIM:301072NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH46
HP:0003271HP:0002240Hepatomegaly1PIGM CL E G H9318318858OMIM:610293Glycosylphosphatidylinositol deficiency.6
HP:0003271HP:0001744Splenomegaly1PIGM CL E G H9318318858OMIM:610293Glycosylphosphatidylinositol deficiency.6
HP:0003271HP:0002240Hepatomegaly1PIGS CL E G H9400514937OMIM:618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0003271HP:0002240Hepatomegaly1PIK3C2A CL E G H52868971OMIM:618440Oculoskeletodental syndrome.
HP:0003271HP:0001744Splenomegaly1PIK3C2A CL E G H52868971OMIM:618440Oculoskeletodental syndrome.
HP:0003271HP:0001744Splenomegaly1PIK3CA CL E G H52908975OMIM:612918Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi.162
HP:0003271HP:0001744Splenomegaly1PIK3CD CL E G H52938977OMIM:615513IMMUNODEFICIENCY 14; IMD149
HP:0003271HP:0001744Splenomegaly1PIK3CG CL E G H52948978OMIM:619802IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD972
HP:0003271HP:0001744Splenomegaly1PIK3R1 CL E G H52958979OMIM:616005Immunodeficiency 36.43
HP:0003271HP:0002240Hepatomegaly1PKD2 CL E G H53119009OMIM:613095Polycystic kidney disease 2106
HP:0003271HP:0001744Splenomegaly1PKHD1 CL E G H53149016ORPHA:731Autosomal recessive polycystic kidney diseaseHP:0040282 - Frequent563
HP:0003271HP:0002240Hepatomegaly1PKHD1 CL E G H53149016ORPHA:731Autosomal recessive polycystic kidney disease563
HP:0003271HP:0001744Splenomegaly1PKHD1 CL E G H53149016ORPHA:53035Caroli diseaseHP:0040283 - Occasional563
HP:0003271HP:0002240Hepatomegaly1PKHD1 CL E G H53149016ORPHA:53035Caroli diseaseHP:0040283 - Occasional563
HP:0003271HP:0001744Splenomegaly1PKHD1 CL E G H53149016OMIM:263200Polycystic kidney disease 4 with or without polycystic liver disease.563
HP:0003271HP:0002240Hepatomegaly1PKHD1 CL E G H53149016OMIM:263200Polycystic kidney disease 4 with or without polycystic liver disease.563
HP:0003271HP:0001744Splenomegaly1PKLR CL E G H53139020ORPHA:766Hemolytic anemia due to red cell pyruvate kinase deficiencyHP:0040281 - Very frequent51
HP:0003271HP:0001744Splenomegaly1PKLR CL E G H53139020OMIM:266200Pyruvate kinase deficiency of red cells.51
HP:0003271HP:0002240Hepatomegaly1PKLR CL E G H53139020OMIM:266200Pyruvate kinase deficiency of red cells51
HP:0003271HP:0002240Hepatomegaly1PLAGL1 CL E G H53259046ORPHA:96191Paternal uniparental disomy of chromosome 6HP:0040281 - Very frequent
HP:0003271HP:0002240Hepatomegaly1PLEKHM1 CL E G H984229017ORPHA:210110Intermediate osteopetrosis2
HP:0003271HP:0001744Splenomegaly1PLEKHM1 CL E G H984229017ORPHA:210110Intermediate osteopetrosis2
HP:0003271HP:0002240Hepatomegaly1PLEKHM1 CL E G H984229017OMIM:618107OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA32
HP:0003271HP:0001744Splenomegaly1PLEKHM1 CL E G H984229017OMIM:618107OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA32
HP:0003271HP:0002240Hepatomegaly1PMM2 CL E G H53739115OMIM:212065Congenital disorder of glycosylation, type Ia.150
HP:0003271HP:0001744Splenomegaly1PNP CL E G H48607892OMIM:613179Immunodeficiency due to purine nucleoside phosphorylase deficiency.52
HP:0003271HP:0002240Hepatomegaly1PNPLA2 CL E G H5710430802OMIM:610717Neutral lipid storage disease with myopathy.65
HP:0003271HP:0002240Hepatomegaly1PNPLA2 CL E G H5710430802ORPHA:98908Neutral lipid storage myopathyHP:0040283 - Occasional65
HP:0003271HP:0002240Hepatomegaly1PNPLA2 CL E G H5710430802ORPHA:565612Triglyceride deposit cardiomyovasculopathyHP:0040282 - Frequent65
HP:0003271HP:0001744Splenomegaly1PNPLA2 CL E G H5710430802ORPHA:565612Triglyceride deposit cardiomyovasculopathyHP:0040284 - Very rare65
HP:0003271HP:0002240Hepatomegaly1POLD1 CL E G H54249175OMIM:615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome.731
HP:0003271HP:0002240Hepatomegaly1POLG CL E G H54289179OMIM:203700Mitochondrial DNA depletion syndrome 4A (Alpers type).464
HP:0003271HP:0002240Hepatomegaly1POLG2 CL E G H112329180OMIM:618528Mitochondrial DNA depletion syndrome 16 (hepatic type).45
HP:0003271HP:0002240Hepatomegaly1PPARG CL E G H54689236ORPHA:528Congenital generalized lipodystrophyHP:0040281 - Very frequent42
HP:0003271HP:0001744Splenomegaly1PPARG CL E G H54689236ORPHA:79083PPARG-related familial partial lipodystrophyHP:0040283 - Occasional42
HP:0003271HP:0002240Hepatomegaly1PPARG CL E G H54689236ORPHA:79083PPARG-related familial partial lipodystrophyHP:0040281 - Very frequent42
HP:0003271HP:0002240Hepatomegaly1PPP1R21 CL E G H12928530595OMIM:619383NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0003271HP:0002240Hepatomegaly1PRF1 CL E G H55519360ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040282 - Frequent58
HP:0003271HP:0001744Splenomegaly1PRF1 CL E G H55519360ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040282 - Frequent58
HP:0003271HP:0002240Hepatomegaly1PRF1 CL E G H55519360OMIM:603553Hemophagocytic lymphohistiocytosis, familial, 258
HP:0003271HP:0001744Splenomegaly1PRF1 CL E G H55519360OMIM:603553Hemophagocytic lymphohistiocytosis, familial, 258
HP:0003271HP:0001744Splenomegaly1PRKCD CL E G H55809399ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040281 - Very frequent10
HP:0003271HP:0002240Hepatomegaly1PRKCD CL E G H55809399ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040282 - Frequent10
HP:0003271HP:0002240Hepatomegaly1PRKCD CL E G H55809399OMIM:615559AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS310
HP:0003271HP:0001744Splenomegaly1PRKCD CL E G H55809399OMIM:615559AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS310
HP:0003271HP:0001744Splenomegaly1PRKCD CL E G H55809399ORPHA:1572Common variable immunodeficiencyHP:0040282 - Frequent10
HP:0003271HP:0002240Hepatomegaly1PRKCSH CL E G H55899411ORPHA:2924Isolated polycystic liver diseaseHP:0040281 - Very frequent63
HP:0003271HP:0002240Hepatomegaly1PSAP CL E G H56609498OMIM:611721Combined saposin deficiency.81
HP:0003271HP:0001744Splenomegaly1PSAP CL E G H56609498OMIM:611721Combined saposin deficiency.81
HP:0003271HP:0001744Splenomegaly1PSAP CL E G H56609498ORPHA:139406Encephalopathy due to prosaposin deficiencyHP:0040281 - Very frequent81
HP:0003271HP:0002240Hepatomegaly1PSAP CL E G H56609498ORPHA:139406Encephalopathy due to prosaposin deficiencyHP:0040281 - Very frequent81
HP:0003271HP:0001744Splenomegaly1PSAP CL E G H56609498OMIM:610539Gaucher disease, atypical81
HP:0003271HP:0002240Hepatomegaly1PSAP CL E G H56609498OMIM:610539Gaucher disease, atypical81
HP:0003271HP:0002240Hepatomegaly1PSMB10 CL E G H56999538OMIM:619175PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5; PRAAS5
HP:0003271HP:0001744Splenomegaly1PSMB10 CL E G H56999538OMIM:619175PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5; PRAAS5
HP:0003271HP:0002240Hepatomegaly1PSMB4 CL E G H56929541OMIM:617591Proteasome-Associated autoinflammatory syndrome 3.
HP:0003271HP:0001744Splenomegaly1PSMB4 CL E G H56929541OMIM:617591Proteasome-Associated autoinflammatory syndrome 3.
HP:0003271HP:0002240Hepatomegaly1PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0003271HP:0001744Splenomegaly1PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0003271HP:0002240Hepatomegaly1PSMB9 CL E G H56989546OMIM:617591Proteasome-Associated autoinflammatory syndrome 3.
HP:0003271HP:0001744Splenomegaly1PSMB9 CL E G H56989546OMIM:617591Proteasome-Associated autoinflammatory syndrome 3.
HP:0003271HP:0001744Splenomegaly1PSMG2 CL E G H5698424929OMIM:619183PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0003271HP:0002240Hepatomegaly1PSMG2 CL E G H5698424929OMIM:619183PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0003271HP:0001744Splenomegaly1PSTPIP1 CL E G H90519580OMIM:604416Pyogenic sterile arthritis, pyoderma gangrenosum, and acne96
HP:0003271HP:0002240Hepatomegaly1PSTPIP1 CL E G H90519580OMIM:604416Pyogenic sterile arthritis, pyoderma gangrenosum, and acne96
HP:0003271HP:0002240Hepatomegaly1PTEN CL E G H57289588OMIM:605309Macrocephaly/autism syndromeHP:0040284 - Very rare948
HP:0003271HP:0001744Splenomegaly1PTEN CL E G H57289588OMIM:605309Macrocephaly/autism syndromeHP:0040284 - Very rare948
HP:0003271HP:0001744Splenomegaly1PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040283 - Occasional948
HP:0003271HP:0001744Splenomegaly1PTEN CL E G H57289588ORPHA:2969Proteus-like syndromeHP:0040283 - Occasional948
HP:0003271HP:0002240Hepatomegaly1PTPN11 CL E G H57819644ORPHA:648Noonan syndromeHP:0040282 - Frequent291
HP:0003271HP:0002240Hepatomegaly1PTPN2 CL E G H57719650ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0003271HP:0001744Splenomegaly1PTPN2 CL E G H57719650ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0003271HP:0002240Hepatomegaly1PTPN22 CL E G H261919652ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis3
HP:0003271HP:0001744Splenomegaly1PTPN22 CL E G H261919652ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis3
HP:0003271HP:0001744Splenomegaly1PTPRC CL E G H57889666OMIM:61992425
HP:0003271HP:0002240Hepatomegaly1PTPRC CL E G H57889666OMIM:61992425
HP:0003271HP:0002240Hepatomegaly1PTRH2 CL E G H5165124265ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic diseaseHP:0040283 - Occasional6
HP:0003271HP:0002240Hepatomegaly1PTRH2 CL E G H5165124265OMIM:616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset.6
HP:0003271HP:0002240Hepatomegaly1PUS7 CL E G H5451726033OMIM:618342Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0003271HP:0002240Hepatomegaly1PYGL CL E G H58369725ORPHA:369Glycogen storage disease due to liver glycogen phosphorylase deficiencyHP:0040281 - Very frequent71
HP:0003271HP:0002240Hepatomegaly1PYGL CL E G H58369725OMIM:232700Glycogen storage disease VI71
HP:0003271HP:0001744Splenomegaly1RAB27A CL E G H58739766ORPHA:79477Griscelli syndrome type 2HP:0040281 - Very frequent67
HP:0003271HP:0002240Hepatomegaly1RAB27A CL E G H58739766ORPHA:79477Griscelli syndrome type 2HP:0040281 - Very frequent67
HP:0003271HP:0001744Splenomegaly1RAB27A CL E G H58739766OMIM:607624Griscelli syndrome, type 267
HP:0003271HP:0002240Hepatomegaly1RAB27A CL E G H58739766OMIM:607624Griscelli syndrome, type 267
HP:0003271HP:0002240Hepatomegaly1RABL3 CL E G H28528218072ORPHA:1333Familial pancreatic carcinoma
HP:0003271HP:0001744Splenomegaly1RABL3 CL E G H28528218072ORPHA:1333Familial pancreatic carcinoma
HP:0003271HP:0002240Hepatomegaly1RAC2 CL E G H58809802OMIM:618986IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B9
HP:0003271HP:0001744Splenomegaly1RAC2 CL E G H58809802OMIM:618986IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B9
HP:0003271HP:0002240Hepatomegaly1RAF1 CL E G H58949829ORPHA:648Noonan syndromeHP:0040282 - Frequent212
HP:0003271HP:0001744Splenomegaly1RAG1 CL E G H58969831ORPHA:231154Combined immunodeficiency due to partial RAG1 deficiencyHP:0040281 - Very frequent127
HP:0003271HP:0001744Splenomegaly1RAG1 CL E G H58969831ORPHA:39041Omenn syndromeHP:0040282 - Frequent127
HP:0003271HP:0002240Hepatomegaly1RAG1 CL E G H58969831ORPHA:39041Omenn syndromeHP:0040281 - Very frequent127
HP:0003271HP:0002240Hepatomegaly1RAG1 CL E G H58969831OMIM:603554Omenn syndrome.127
HP:0003271HP:0001744Splenomegaly1RAG1 CL E G H58969831OMIM:603554Omenn syndrome.127
HP:0003271HP:0002240Hepatomegaly1RAG1 CL E G H58969831ORPHA:331206Severe combined immunodeficiency due to complete RAG1/2 deficiencyHP:0040283 - Occasional127
HP:0003271HP:0001744Splenomegaly1RAG1 CL E G H58969831ORPHA:331206Severe combined immunodeficiency due to complete RAG1/2 deficiency127
HP:0003271HP:0002240Hepatomegaly1RAG2 CL E G H58979832ORPHA:39041Omenn syndromeHP:0040281 - Very frequent50
HP:0003271HP:0002240Hepatomegaly1RAG2 CL E G H58979832OMIM:603554Omenn syndrome.50
HP:0003271HP:0001744Splenomegaly1RAG2 CL E G H58979832ORPHA:39041Omenn syndromeHP:0040282 - Frequent50
HP:0003271HP:0001744Splenomegaly1RAG2 CL E G H58979832OMIM:603554Omenn syndrome.50
HP:0003271HP:0001744Splenomegaly1RAG2 CL E G H58979832ORPHA:331206Severe combined immunodeficiency due to complete RAG1/2 deficiency50
HP:0003271HP:0002240Hepatomegaly1RAG2 CL E G H58979832ORPHA:331206Severe combined immunodeficiency due to complete RAG1/2 deficiencyHP:0040283 - Occasional50
HP:0003271HP:0002240Hepatomegaly1RASA2 CL E G H59229872ORPHA:648Noonan syndromeHP:0040282 - Frequent3
HP:0003271HP:0002240Hepatomegaly1RASGRP1 CL E G H101259878ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040282 - Frequent
HP:0003271HP:0001744Splenomegaly1RASGRP1 CL E G H101259878ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040281 - Very frequent
HP:0003271HP:0002240Hepatomegaly1RASGRP1 CL E G H101259878OMIM:618534IMMUNODEFICIENCY 64; IMD64
HP:0003271HP:0001744Splenomegaly1RASGRP1 CL E G H101259878OMIM:618534IMMUNODEFICIENCY 64; IMD64
HP:0003271HP:0002240Hepatomegaly1RBCK1 CL E G H1061615864OMIM:615895Polyglucosan body myopathy 1 with or without immunodeficiencyHP:0040283 - Occasional10
HP:0003271HP:0001744Splenomegaly1RBCK1 CL E G H1061615864OMIM:615895Polyglucosan body myopathy 1 with or without immunodeficiency10
HP:0003271HP:0002240Hepatomegaly1RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0003271HP:0001744Splenomegaly1RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0003271HP:0002240Hepatomegaly1REL CL E G H59669954OMIM:619652IMMUNODEFICIENCY 92; IMD921
HP:0003271HP:0002240Hepatomegaly1RFT1 CL E G H9186930220OMIM:612015Congenital disorder of glycosylation, type IN.92
HP:0003271HP:0002240Hepatomegaly1RFT1 CL E G H9186930220ORPHA:244310RFT1-CDGHP:0040282 - Frequent92
HP:0003271HP:0001744Splenomegaly1RHAG CL E G H600510006OMIM:185000Overhydrated hereditary stomatocytosis.13
HP:0003271HP:0001744Splenomegaly1RHAG CL E G H600510006ORPHA:3203Overhydrated hereditary stomatocytosisHP:0040283 - Occasional13
HP:0003271HP:0002240Hepatomegaly1RHAG CL E G H600510006OMIM:185000Overhydrated hereditary stomatocytosis.13
HP:0003271HP:0001744Splenomegaly1RHAG CL E G H600510006ORPHA:71275Rh deficiency syndrome13
HP:0003271HP:0002240Hepatomegaly1RHAG CL E G H600510006ORPHA:71275Rh deficiency syndrome13
HP:0003271HP:0002240Hepatomegaly1RHBDF2 CL E G H7965120788ORPHA:2198Palmoplantar keratoderma-esophageal carcinoma syndromeHP:0040282 - Frequent80
HP:0003271HP:0002240Hepatomegaly1RHCE CL E G H600610008ORPHA:71275Rh deficiency syndrome8
HP:0003271HP:0001744Splenomegaly1RHCE CL E G H600610008ORPHA:71275Rh deficiency syndrome8
HP:0003271HP:0002240Hepatomegaly1RHD CL E G H600710009OMIM:619462Hemolytic disease of fetus and newborn, RH-induced16
HP:0003271HP:0001744Splenomegaly1RHD CL E G H600710009OMIM:619462Hemolytic disease of fetus and newborn, RH-induced16
HP:0003271HP:0001744Splenomegaly1RHD CL E G H600710009ORPHA:71275Rh deficiency syndrome16
HP:0003271HP:0002240Hepatomegaly1RHD CL E G H600710009ORPHA:71275Rh deficiency syndrome16
HP:0003271HP:0001744Splenomegaly1RINT1 CL E G H6056121876OMIM:618641INFANTILE LIVER FAILURE SYNDROME 3; ILFS399
HP:0003271HP:0002240Hepatomegaly1RINT1 CL E G H6056121876OMIM:618641INFANTILE LIVER FAILURE SYNDROME 3; ILFS399
HP:0003271HP:0002240Hepatomegaly1RIPK1 CL E G H873710019OMIM:618852AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL
HP:0003271HP:0001744Splenomegaly1RIPK1 CL E G H873710019OMIM:618852AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL
HP:0003271HP:0002240Hepatomegaly1RIT1 CL E G H601610023ORPHA:648Noonan syndromeHP:0040282 - Frequent39
HP:0003271HP:0002240Hepatomegaly1RMND1 CL E G H5500521176OMIM:614922Combined oxidative phosphorylation deficiency 11HP:0040283 - Occasional26
HP:0003271HP:0002240Hepatomegaly1RMRP CL E G H602310031ORPHA:175Cartilage-hair hypoplasiaHP:0040283 - Occasional37
HP:0003271HP:0002240Hepatomegaly1RMRP CL E G H602310031ORPHA:39041Omenn syndromeHP:0040281 - Very frequent37
HP:0003271HP:0001744Splenomegaly1RMRP CL E G H602310031ORPHA:39041Omenn syndromeHP:0040282 - Frequent37
HP:0003271HP:0002240Hepatomegaly1RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndrome33
HP:0003271HP:0001744Splenomegaly1RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndrome33
HP:0003271HP:0002240Hepatomegaly1RNASEH2A CL E G H1053518518OMIM:610333Aicardi-Goutieres syndrome 4.33
HP:0003271HP:0001744Splenomegaly1RNASEH2A CL E G H1053518518OMIM:610333Aicardi-Goutieres syndrome 4.33
HP:0003271HP:0001744Splenomegaly1RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndrome34
HP:0003271HP:0002240Hepatomegaly1RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndrome34
HP:0003271HP:0002240Hepatomegaly1RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndrome60
HP:0003271HP:0001744Splenomegaly1RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndrome60
HP:0003271HP:0001744Splenomegaly1RNASEH2C CL E G H8415324116OMIM:610329Aicardi-Goutieres syndrome 360
HP:0003271HP:0002240Hepatomegaly1RNASEH2C CL E G H8415324116OMIM:610329Aicardi-Goutieres syndrome 360
HP:0003271HP:0002240Hepatomegaly1RNU4ATAC CL E G H10015168334016ORPHA:353298Roifman syndrome15
HP:0003271HP:0001744Splenomegaly1RNU4ATAC CL E G H10015168334016OMIM:616651Roifman syndrome15
HP:0003271HP:0001744Splenomegaly1RNU4ATAC CL E G H10015168334016ORPHA:353298Roifman syndrome15
HP:0003271HP:0002240Hepatomegaly1RNU4ATAC CL E G H10015168334016OMIM:616651Roifman syndrome15
HP:0003271HP:0002240Hepatomegaly1RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndrome
HP:0003271HP:0001744Splenomegaly1RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndrome
HP:0003271HP:0001744Splenomegaly1RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0003271HP:0002240Hepatomegaly1RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0003271HP:0002240Hepatomegaly1RPGRIP1L CL E G H2332229168ORPHA:1454Joubert syndrome with hepatic defectHP:0040281 - Very frequent167
HP:0003271HP:0001744Splenomegaly1RPGRIP1L CL E G H2332229168ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional167
HP:0003271HP:0002240Hepatomegaly1RRAS CL E G H623710447ORPHA:648Noonan syndromeHP:0040282 - Frequent
HP:0003271HP:0002240Hepatomegaly1RRAS2 CL E G H2280017271ORPHA:648Noonan syndromeHP:0040282 - Frequent1
HP:0003271HP:0001744Splenomegaly1RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0003271HP:0002240Hepatomegaly1RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional77
HP:0003271HP:0001744Splenomegaly1RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional77
HP:0003271HP:0001744Splenomegaly1RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0003271HP:0002240Hepatomegaly1RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0003271HP:0001744Splenomegaly1RUNX1 CL E G H86110471ORPHA:98850Aggressive systemic mastocytosis181
HP:0003271HP:0002240Hepatomegaly1RUNX1 CL E G H86110471ORPHA:98850Aggressive systemic mastocytosis181
HP:0003271HP:0001744Splenomegaly1RUNX1 CL E G H86110471ORPHA:521Chronic myeloid leukemiaHP:0040282 - Frequent181
HP:0003271HP:0002240Hepatomegaly1SAA1 CL E G H628810513ORPHA:85445AA amyloidosisHP:0040282 - Frequent2
HP:0003271HP:0001744Splenomegaly1SAMD9L CL E G H2192851349ORPHA:2585Ataxia-pancytopenia syndromeHP:0040282 - Frequent4
HP:0003271HP:0001744Splenomegaly1SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndrome55
HP:0003271HP:0002240Hepatomegaly1SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndrome55
HP:0003271HP:0002240Hepatomegaly1SASH3 CL E G H5444015975OMIM:3010821
HP:0003271HP:0002240Hepatomegaly1SBDS CL E G H5111919440ORPHA:811Shwachman-Diamond syndromeHP:0040284 - Very rare26
HP:0003271HP:0002240Hepatomegaly1SBDS CL E G H5111919440OMIM:260400Shwachman-Diamond syndrome 1.26
HP:0003271HP:0002240Hepatomegaly1SC5D CL E G H630910547OMIM:607330LATHOSTEROLOSIS80
HP:0003271HP:0002240Hepatomegaly1SC5D CL E G H630910547ORPHA:46059LathosterolosisHP:0040282 - Frequent80
HP:0003271HP:0001744Splenomegaly1SC5D CL E G H630910547OMIM:607330LATHOSTEROLOSIS80
HP:0003271HP:0002240Hepatomegaly1SCARB2 CL E G H9501665ORPHA:77259Gaucher disease type 1HP:0040281 - Very frequent77
HP:0003271HP:0001744Splenomegaly1SCARB2 CL E G H9501665ORPHA:77259Gaucher disease type 1HP:0040281 - Very frequent77
HP:0003271HP:0002240Hepatomegaly1SCO1 CL E G H634110603OMIM:619048MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN446
HP:0003271HP:0002240Hepatomegaly1SCO2 CL E G H999710604OMIM:604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 140
HP:0003271HP:0002240Hepatomegaly1SCYL1 CL E G H5741014372ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome5
HP:0003271HP:0001744Splenomegaly1SCYL1 CL E G H5741014372ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome5
HP:0003271HP:0002240Hepatomegaly1SCYL1 CL E G H5741014372OMIM:616719Spinocerebellar ataxia, autosomal recessive 21.5
HP:0003271HP:0001744Splenomegaly1SCYL1 CL E G H5741014372OMIM:616719Spinocerebellar ataxia, autosomal recessive 21.5
HP:0003271HP:0002240Hepatomegaly1SDHD CL E G H639210683OMIM:619167MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3129
HP:0003271HP:0001744Splenomegaly1SEC23B CL E G H1048310702OMIM:224100Anemia, dyserythropoietic congenital, type II.60
HP:0003271HP:0001744Splenomegaly1SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0003271HP:0002240Hepatomegaly1SEC63 CL E G H1123121082ORPHA:2924Isolated polycystic liver diseaseHP:0040281 - Very frequent137
HP:0003271HP:0002240Hepatomegaly1SEC63 CL E G H1123121082OMIM:617004Polycystic liver disease 2.137
HP:0003271HP:0002240Hepatomegaly1SEMA4D CL E G H1050710732ORPHA:171Primary sclerosing cholangitisHP:0040282 - Frequent
HP:0003271HP:0001744Splenomegaly1SEMA4D CL E G H1050710732ORPHA:171Primary sclerosing cholangitisHP:0040282 - Frequent
HP:0003271HP:0001744Splenomegaly1SERPINA1 CL E G H52658941OMIM:613490Alpha-1-Antitrypsin deficiency131
HP:0003271HP:0002240Hepatomegaly1SERPINA1 CL E G H52658941ORPHA:60Alpha-1-antitrypsin deficiencyHP:0040282 - Frequent131
HP:0003271HP:0002240Hepatomegaly1SF3B1 CL E G H2345110768ORPHA:75564Acquired idiopathic sideroblastic anemiaHP:0040283 - Occasional19
HP:0003271HP:0001744Splenomegaly1SF3B1 CL E G H2345110768ORPHA:75564Acquired idiopathic sideroblastic anemiaHP:0040283 - Occasional19
HP:0003271HP:0001744Splenomegaly1SGSH CL E G H644810818OMIM:252900Mucopolysaccharidosis type IIIA.97
HP:0003271HP:0002240Hepatomegaly1SGSH CL E G H644810818OMIM:252900Mucopolysaccharidosis type IIIA.97
HP:0003271HP:0001744Splenomegaly1SH2B3 CL E G H1001929605OMIM:133100Erythrocytosis, familial, 1.4
HP:0003271HP:0001744Splenomegaly1SH2B3 CL E G H1001929605ORPHA:3318Essential thrombocythemiaHP:0040282 - Frequent4
HP:0003271HP:0001744Splenomegaly1SH2B3 CL E G H1001929605OMIM:254450Myelofibrosismyelofibrosis with myeloid metaplasia, included4
HP:0003271HP:0001744Splenomegaly1SH2B3 CL E G H1001929605OMIM:187950THROMBOCYTHEMIA 1; THCYT14
HP:0003271HP:0001744Splenomegaly1SH2D1A CL E G H406810820OMIM:308240Lymphoproliferative syndrome, X-linked, 137
HP:0003271HP:0002240Hepatomegaly1SH2D1A CL E G H406810820OMIM:308240Lymphoproliferative syndrome, X-linked, 137
HP:0003271HP:0002240Hepatomegaly1SKIC2 CL E G H649910898ORPHA:84064Syndromic diarrheaHP:0040282 - Frequent
HP:0003271HP:0001744Splenomegaly1SKIC2 CL E G H649910898ORPHA:84064Syndromic diarrheaHP:0040284 - Very rare
HP:0003271HP:0002240Hepatomegaly1SKIC2 CL E G H649910898OMIM:614602Trichohepatoenteric syndrome 2.
HP:0003271HP:0001744Splenomegaly1SKIC3 CL E G H965223639ORPHA:84064Syndromic diarrheaHP:0040284 - Very rare
HP:0003271HP:0002240Hepatomegaly1SKIC3 CL E G H965223639ORPHA:84064Syndromic diarrheaHP:0040282 - Frequent
HP:0003271HP:0001744Splenomegaly1SKIC3 CL E G H965223639OMIM:222470Trichohepatoenteric syndrome 1
HP:0003271HP:0002240Hepatomegaly1SKIC3 CL E G H965223639OMIM:222470Trichohepatoenteric syndrome 1.
HP:0003271HP:0002240Hepatomegaly1SLC17A5 CL E G H2650310933OMIM:269920Infantile sialic acid storage disease.78
HP:0003271HP:0001744Splenomegaly1SLC17A5 CL E G H2650310933OMIM:269920Infantile sialic acid storage disease.78
HP:0003271HP:0002240Hepatomegaly1SLC20A2 CL E G H657510947ORPHA:1980Bilateral striopallidodentate calcinosisHP:0040281 - Very frequent70
HP:0003271HP:0002240Hepatomegaly1SLC22A5 CL E G H658410969OMIM:212140Carnitine deficiency, systemic primary.207
HP:0003271HP:0002240Hepatomegaly1SLC22A5 CL E G H658410969ORPHA:158Systemic primary carnitine deficiencyHP:0040281 - Very frequent207
HP:0003271HP:0002240Hepatomegaly1SLC25A1 CL E G H657610979OMIM:615182Combined d-2- and l-2-hydroxyglutaric aciduriaHP:0040283 - Occasional28
HP:0003271HP:0002240Hepatomegaly1SLC25A13 CL E G H1016510983ORPHA:247585Citrullinemia type IIHP:0040282 - Frequent82
HP:0003271HP:0002240Hepatomegaly1SLC25A13 CL E G H1016510983ORPHA:247598Neonatal intrahepatic cholestasis due to citrin deficiencyHP:0040282 - Frequent82
HP:0003271HP:0001744Splenomegaly1SLC25A13 CL E G H1016510983ORPHA:247598Neonatal intrahepatic cholestasis due to citrin deficiency82
HP:0003271HP:0002240Hepatomegaly1SLC25A15 CL E G H1016610985OMIM:238970Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome.88
HP:0003271HP:0002240Hepatomegaly1SLC25A15 CL E G H1016610985ORPHA:415Hyperornithinemia-hyperammonemia-homocitrullinuria syndromeHP:0040282 - Frequent88
HP:0003271HP:0002240Hepatomegaly1SLC25A19 CL E G H6038614409ORPHA:99742Amish lethal microcephalyHP:0040283 - Occasional36
HP:0003271HP:0002240Hepatomegaly1SLC25A19 CL E G H6038614409OMIM:607196Microcephaly, Amish type.36
HP:0003271HP:0002240Hepatomegaly1SLC25A20 CL E G H7881421ORPHA:159Carnitine-acylcarnitine translocase deficiencyHP:0040281 - Very frequent40
HP:0003271HP:0002240Hepatomegaly1SLC25A20 CL E G H7881421OMIM:212138Carnitine-acylcarnitine translocase deficiency40
HP:0003271HP:0001744Splenomegaly1SLC29A3 CL E G H5531523096ORPHA:168569H syndrome68
HP:0003271HP:0002240Hepatomegaly1SLC29A3 CL E G H5531523096ORPHA:168569H syndrome68
HP:0003271HP:0001744Splenomegaly1SLC29A3 CL E G H5531523096OMIM:602782Histiocytosis-lymphadenopathy plus syndrome68
HP:0003271HP:0002240Hepatomegaly1SLC29A3 CL E G H5531523096OMIM:602782Histiocytosis-lymphadenopathy plus syndrome68
HP:0003271HP:0001744Splenomegaly1SLC2A1 CL E G H651311005OMIM:612126Glut1 deficiency syndrome 2255
HP:0003271HP:0002240Hepatomegaly1SLC2A1 CL E G H651311005ORPHA:168577Hereditary cryohydrocytosis with reduced stomatin255
HP:0003271HP:0001744Splenomegaly1SLC2A1 CL E G H651311005ORPHA:168577Hereditary cryohydrocytosis with reduced stomatin255
HP:0003271HP:0001744Splenomegaly1SLC2A1 CL E G H651311005OMIM:608885Stomatin-Deficient cryohydrocytosis with neurologic defects.255
HP:0003271HP:0002240Hepatomegaly1SLC2A1 CL E G H651311005OMIM:608885Stomatin-Deficient cryohydrocytosis with neurologic defects.255
HP:0003271HP:0002240Hepatomegaly1SLC2A2 CL E G H651411006ORPHA:2088Fanconi-Bickel syndromeHP:0040282 - Frequent71
HP:0003271HP:0002240Hepatomegaly1SLC30A10 CL E G H5553225355ORPHA:309854Cirrhosis-dystonia-polycythemia-hypermanganesemia syndromeHP:0040282 - Frequent42
HP:0003271HP:0001744Splenomegaly1SLC30A10 CL E G H5553225355ORPHA:309854Cirrhosis-dystonia-polycythemia-hypermanganesemia syndromeHP:0040282 - Frequent42
HP:0003271HP:0002240Hepatomegaly1SLC30A10 CL E G H5553225355OMIM:613280Hypermanganesemia with dystonia 142
HP:0003271HP:0002240Hepatomegaly1SLC34A2 CL E G H1056811020ORPHA:60025Pulmonary alveolar microlithiasisHP:0040283 - Occasional7
HP:0003271HP:0002240Hepatomegaly1SLC35C1 CL E G H5534320197ORPHA:99843Leukocyte adhesion deficiency type IIHP:0040283 - Occasional71
HP:0003271HP:0001744Splenomegaly1SLC37A4 CL E G H25424061OMIM:619525CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W110
HP:0003271HP:0002240Hepatomegaly1SLC37A4 CL E G H25424061OMIM:619525CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W110
HP:0003271HP:0002240Hepatomegaly1SLC37A4 CL E G H25424061ORPHA:79259Glycogen storage disease due to glucose-6-phosphatase deficiency type IbHP:0040281 - Very frequent110
HP:0003271HP:0002240Hepatomegaly1SLC37A4 CL E G H25424061OMIM:232220Glycogen storage disease ib.110
HP:0003271HP:0001744Splenomegaly1SLC37A4 CL E G H25424061OMIM:232220Glycogen storage disease ib110
HP:0003271HP:0002240Hepatomegaly1SLC37A4 CL E G H25424061OMIM:232240GLYCOGEN STORAGE DISEASE Ic.110
HP:0003271HP:0002240Hepatomegaly1SLC38A3 CL E G H1099118044OMIM:619881
HP:0003271HP:0002240Hepatomegaly1SLC39A4 CL E G H5563017129OMIM:201100Acrodermatitis enteropathica, Zinc-Deficiency type.55
HP:0003271HP:0001744Splenomegaly1SLC39A4 CL E G H5563017129OMIM:201100Acrodermatitis enteropathica, Zinc-Deficiency type.55
HP:0003271HP:0002240Hepatomegaly1SLC40A1 CL E G H3006110909OMIM:606069Hemochromatosis, type 456
HP:0003271HP:0001744Splenomegaly1SLC4A1 CL E G H652111027OMIM:185020CRYOHYDROCYTOSIS.109
HP:0003271HP:0001744Splenomegaly1SLC4A1 CL E G H652111027ORPHA:3202Dehydrated hereditary stomatocytosisHP:0040282 - Frequent109
HP:0003271HP:0001744Splenomegaly1SLC4A1 CL E G H652111027ORPHA:822Hereditary spherocytosisHP:0040282 - Frequent109
HP:0003271HP:0002240Hepatomegaly1SLC4A1 CL E G H652111027ORPHA:822Hereditary spherocytosisHP:0040282 - Frequent109
HP:0003271HP:0001744Splenomegaly1SLC4A1 CL E G H652111027OMIM:611590Renal tubular acidosis, distal, with hemolytic anemia109
HP:0003271HP:0002240Hepatomegaly1SLC4A1 CL E G H652111027OMIM:611590Renal tubular acidosis, distal, with hemolytic anemia109
HP:0003271HP:0001744Splenomegaly1SLC4A1 CL E G H652111027OMIM:612653Spherocytosis, type 4.109
HP:0003271HP:0002240Hepatomegaly1SLC7A7 CL E G H905611065ORPHA:470Lysinuric protein intoleranceHP:0040282 - Frequent104
HP:0003271HP:0001744Splenomegaly1SLC7A7 CL E G H905611065ORPHA:470Lysinuric protein intolerance104
HP:0003271HP:0001744Splenomegaly1SLC7A7 CL E G H905611065OMIM:222700Lysinuric protein intolerance.104
HP:0003271HP:0002240Hepatomegaly1SLC7A7 CL E G H905611065OMIM:222700Lysinuric protein intolerance.104
HP:0003271HP:0002240Hepatomegaly1SLCO2A1 CL E G H657810955ORPHA:2796PachydermoperiostosisHP:0040283 - Occasional13
HP:0003271HP:0001744Splenomegaly1SLCO2A1 CL E G H657810955ORPHA:2796PachydermoperiostosisHP:0040283 - Occasional13
HP:0003271HP:0001744Splenomegaly1SMAD4 CL E G H40896770ORPHA:1333Familial pancreatic carcinoma504
HP:0003271HP:0002240Hepatomegaly1SMAD4 CL E G H40896770ORPHA:1333Familial pancreatic carcinoma504
HP:0003271HP:0001744Splenomegaly1SMPD1 CL E G H660911120ORPHA:77293Niemann-Pick disease type BHP:0040282 - Frequent164
HP:0003271HP:0002240Hepatomegaly1SMPD1 CL E G H660911120ORPHA:77293Niemann-Pick disease type BHP:0040282 - Frequent164
HP:0003271HP:0001744Splenomegaly1SMPD1 CL E G H660911120OMIM:257200Niemann-Pick disease, type A.164
HP:0003271HP:0002240Hepatomegaly1SMPD1 CL E G H660911120OMIM:257200Niemann-Pick disease, type A164
HP:0003271HP:0001744Splenomegaly1SMPD1 CL E G H660911120OMIM:607616Niemann-pick disease, type B.164
HP:0003271HP:0002240Hepatomegaly1SMPD1 CL E G H660911120OMIM:607616Niemann-pick disease, type B.164
HP:0003271HP:0001744Splenomegaly1SNX10 CL E G H2988714974ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent2
HP:0003271HP:0002240Hepatomegaly1SNX10 CL E G H2988714974ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent2
HP:0003271HP:0002240Hepatomegaly1SNX10 CL E G H2988714974OMIM:615085Osteopetrosis, autosomal recessive 8.2
HP:0003271HP:0001744Splenomegaly1SNX10 CL E G H2988714974OMIM:615085Osteopetrosis, autosomal recessive 8.2
HP:0003271HP:0001744Splenomegaly1SNX14 CL E G H5723114977ORPHA:397709Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome14
HP:0003271HP:0002240Hepatomegaly1SNX14 CL E G H5723114977ORPHA:397709Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome14
HP:0003271HP:0002240Hepatomegaly1SNX14 CL E G H5723114977OMIM:616354Spinocerebellar ataxia, autosomal recessive 2014
HP:0003271HP:0001744Splenomegaly1SNX14 CL E G H5723114977OMIM:616354Spinocerebellar ataxia, autosomal recessive 2014
HP:0003271HP:0002240Hepatomegaly1SOCS1 CL E G H865119383OMIM:619375AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD6
HP:0003271HP:0001744Splenomegaly1SOCS1 CL E G H865119383OMIM:619375AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD6
HP:0003271HP:0002240Hepatomegaly1SOS1 CL E G H665411187ORPHA:648Noonan syndromeHP:0040282 - Frequent315
HP:0003271HP:0002240Hepatomegaly1SOS2 CL E G H665511188ORPHA:648Noonan syndromeHP:0040282 - Frequent30
HP:0003271HP:0001744Splenomegaly1SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease61
HP:0003271HP:0002240Hepatomegaly1SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease61
HP:0003271HP:0001744Splenomegaly1SOX10 CL E G H666311190ORPHA:163746Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung diseaseHP:0040283 - Occasional61
HP:0003271HP:0002240Hepatomegaly1SOX10 CL E G H666311190ORPHA:163746Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung diseaseHP:0040283 - Occasional61
HP:0003271HP:0002240Hepatomegaly1SP110 CL E G H34315401ORPHA:79124Hepatic veno-occlusive disease-immunodeficiency syndromeHP:0040282 - Frequent49
HP:0003271HP:0001744Splenomegaly1SP110 CL E G H34315401ORPHA:79124Hepatic veno-occlusive disease-immunodeficiency syndrome49
HP:0003271HP:0002240Hepatomegaly1SPRED2 CL E G H20073417722ORPHA:648Noonan syndromeHP:0040282 - Frequent
HP:0003271HP:0001744Splenomegaly1SPTA1 CL E G H670811272ORPHA:288Hereditary elliptocytosisHP:0040283 - Occasional228
HP:0003271HP:0002240Hepatomegaly1SPTA1 CL E G H670811272ORPHA:822Hereditary spherocytosisHP:0040282 - Frequent228
HP:0003271HP:0001744Splenomegaly1SPTA1 CL E G H670811272ORPHA:822Hereditary spherocytosisHP:0040282 - Frequent228
HP:0003271HP:0001744Splenomegaly1SPTB CL E G H671011274ORPHA:288Hereditary elliptocytosisHP:0040283 - Occasional156
HP:0003271HP:0001744Splenomegaly1SPTB CL E G H671011274ORPHA:822Hereditary spherocytosisHP:0040282 - Frequent156
HP:0003271HP:0002240Hepatomegaly1SPTB CL E G H671011274ORPHA:822Hereditary spherocytosisHP:0040282 - Frequent156
HP:0003271HP:0001744Splenomegaly1SPTB CL E G H671011274OMIM:616649SPHEROCYTOSIS, TYPE 2; SPH2156
HP:0003271HP:0002240Hepatomegaly1SRP54 CL E G H672911301ORPHA:811Shwachman-Diamond syndromeHP:0040284 - Very rare
HP:0003271HP:0002240Hepatomegaly1SRP54 CL E G H672911301OMIM:260400Shwachman-Diamond syndrome 1.
HP:0003271HP:0002240Hepatomegaly1SRSF2 CL E G H642710783ORPHA:98850Aggressive systemic mastocytosis1
HP:0003271HP:0001744Splenomegaly1SRSF2 CL E G H642710783ORPHA:98850Aggressive systemic mastocytosis1
HP:0003271HP:0001744Splenomegaly1SRSF2 CL E G H642710783ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040283 - Occasional1
HP:0003271HP:0002240Hepatomegaly1SRSF2 CL E G H642710783ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040283 - Occasional1
HP:0003271HP:0002240Hepatomegaly1STAT1 CL E G H677211362ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome89
HP:0003271HP:0001744Splenomegaly1STAT1 CL E G H677211362ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome89
HP:0003271HP:0002240Hepatomegaly1STAT1 CL E G H677211362OMIM:614162Immunodeficiency 31C89
HP:0003271HP:0001744Splenomegaly1STAT1 CL E G H677211362OMIM:614162Immunodeficiency 31C89
HP:0003271HP:0002240Hepatomegaly1STAT3 CL E G H677411364OMIM:615952AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1110
HP:0003271HP:0001744Splenomegaly1STAT3 CL E G H677411364OMIM:615952AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1110
HP:0003271HP:0001744Splenomegaly1STAT4 CL E G H677511365ORPHA:117Behçet diseaseHP:0040283 - Occasional2
HP:0003271HP:0001744Splenomegaly1STAT4 CL E G H677511365ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis2
HP:0003271HP:0002240Hepatomegaly1STAT4 CL E G H677511365ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis2
HP:0003271HP:0002240Hepatomegaly1STEAP3 CL E G H5524024592OMIM:615234Anemia, hypochromic microcytic, with iron overload 2.1
HP:0003271HP:0001744Splenomegaly1STEAP3 CL E G H5524024592OMIM:615234Anemia, hypochromic microcytic, with iron overload 2.1
HP:0003271HP:0002240Hepatomegaly1STEAP3 CL E G H5524024592ORPHA:300298Severe congenital hypochromic anemia with ringed sideroblasts1
HP:0003271HP:0001744Splenomegaly1STEAP3 CL E G H5524024592ORPHA:300298Severe congenital hypochromic anemia with ringed sideroblasts1
HP:0003271HP:0002240Hepatomegaly1STX11 CL E G H867611429ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040282 - Frequent85
HP:0003271HP:0001744Splenomegaly1STX11 CL E G H867611429ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040282 - Frequent85
HP:0003271HP:0002240Hepatomegaly1STX11 CL E G H867611429OMIM:603552HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL485
HP:0003271HP:0001744Splenomegaly1STX11 CL E G H867611429OMIM:603552HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL485
HP:0003271HP:0001744Splenomegaly1STXBP2 CL E G H681311445ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040282 - Frequent70
HP:0003271HP:0002240Hepatomegaly1STXBP2 CL E G H681311445ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040282 - Frequent70
HP:0003271HP:0001744Splenomegaly1STXBP2 CL E G H681311445OMIM:613101HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL570
HP:0003271HP:0002240Hepatomegaly1STXBP2 CL E G H681311445OMIM:613101HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL570
HP:0003271HP:0002240Hepatomegaly1SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduriaHP:0040282 - Frequent60
HP:0003271HP:0001744Splenomegaly1SUMF1 CL E G H28536220376OMIM:272200Multiple sulfatase deficiency.80
HP:0003271HP:0002240Hepatomegaly1SUMF1 CL E G H28536220376OMIM:272200Multiple sulfatase deficiency.80
HP:0003271HP:0002240Hepatomegaly1SUMF1 CL E G H28536220376ORPHA:585Multiple sulfatase deficiencyHP:0040281 - Very frequent80
HP:0003271HP:0001744Splenomegaly1SUMF1 CL E G H28536220376ORPHA:585Multiple sulfatase deficiencyHP:0040281 - Very frequent80
HP:0003271HP:0002240Hepatomegaly1SURF1 CL E G H683411474OMIM:220110Mitochondrial complex IV deficiency.73
HP:0003271HP:0001744Splenomegaly1SYK CL E G H685011491OMIM:619381IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD821
HP:0003271HP:0002240Hepatomegaly1TALDO1 CL E G H688811559OMIM:606003Transaldolase deficiency.34
HP:0003271HP:0001744Splenomegaly1TALDO1 CL E G H688811559ORPHA:101028Transaldolase deficiency34
HP:0003271HP:0001744Splenomegaly1TALDO1 CL E G H688811559OMIM:606003Transaldolase deficiency.34
HP:0003271HP:0002240Hepatomegaly1TALDO1 CL E G H688811559ORPHA:101028Transaldolase deficiency34
HP:0003271HP:0001744Splenomegaly1TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional32
HP:0003271HP:0001744Splenomegaly1TBX1 CL E G H689911592OMIM:188400Digeorge syndrome32
HP:0003271HP:0001744Splenomegaly1TBXAS1 CL E G H691611609ORPHA:1802Ghosal hematodiaphyseal dysplasiaHP:0040283 - Occasional16
HP:0003271HP:0001744Splenomegaly1TCF3 CL E G H692911633OMIM:619824AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B2
HP:0003271HP:0001744Splenomegaly1TCF4 CL E G H692511634ORPHA:171Primary sclerosing cholangitisHP:0040282 - Frequent241
HP:0003271HP:0002240Hepatomegaly1TCF4 CL E G H692511634ORPHA:171Primary sclerosing cholangitisHP:0040282 - Frequent241
HP:0003271HP:0002240Hepatomegaly1TCIRG1 CL E G H1031211647ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent82
HP:0003271HP:0001744Splenomegaly1TCIRG1 CL E G H1031211647ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent82
HP:0003271HP:0002240Hepatomegaly1TCIRG1 CL E G H1031211647ORPHA:210110Intermediate osteopetrosis82
HP:0003271HP:0001744Splenomegaly1TCIRG1 CL E G H1031211647ORPHA:210110Intermediate osteopetrosis82
HP:0003271HP:0002240Hepatomegaly1TCIRG1 CL E G H1031211647OMIM:259700Osteopetrosis, autosomal recessive 182
HP:0003271HP:0001744Splenomegaly1TCIRG1 CL E G H1031211647OMIM:259700Osteopetrosis, autosomal recessive 182
HP:0003271HP:0001744Splenomegaly1TERC CL E G H701211727ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional48
HP:0003271HP:0002240Hepatomegaly1TERC CL E G H701211727ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional48
HP:0003271HP:0001744Splenomegaly1TERT CL E G H701511730ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional238
HP:0003271HP:0002240Hepatomegaly1TERT CL E G H701511730ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional238
HP:0003271HP:0001744Splenomegaly1TET2 CL E G H5479025941ORPHA:75564Acquired idiopathic sideroblastic anemiaHP:0040283 - Occasional3
HP:0003271HP:0002240Hepatomegaly1TET2 CL E G H5479025941ORPHA:75564Acquired idiopathic sideroblastic anemiaHP:0040283 - Occasional3
HP:0003271HP:0002240Hepatomegaly1TET2 CL E G H5479025941ORPHA:98850Aggressive systemic mastocytosis3
HP:0003271HP:0001744Splenomegaly1TET2 CL E G H5479025941ORPHA:98850Aggressive systemic mastocytosis3
HP:0003271HP:0001744Splenomegaly1TET2 CL E G H5479025941ORPHA:3318Essential thrombocythemiaHP:0040282 - Frequent3
HP:0003271HP:0001744Splenomegaly1TET2 CL E G H5479025941OMIM:619126IMMUNODEFICIENCY 75; IMD753
HP:0003271HP:0002240Hepatomegaly1TET2 CL E G H5479025941OMIM:619126IMMUNODEFICIENCY 75; IMD753
HP:0003271HP:0002240Hepatomegaly1TET2 CL E G H5479025941ORPHA:729Polycythemia veraHP:0040281 - Very frequent3
HP:0003271HP:0001744Splenomegaly1TET2 CL E G H5479025941ORPHA:729Polycythemia veraHP:0040281 - Very frequent3
HP:0003271HP:0001744Splenomegaly1TET2 CL E G H5479025941ORPHA:824Primary myelofibrosisHP:0040282 - Frequent3
HP:0003271HP:0002240Hepatomegaly1TET2 CL E G H5479025941ORPHA:824Primary myelofibrosisHP:0040282 - Frequent3
HP:0003271HP:0002240Hepatomegaly1TET2 CL E G H5479025941ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040283 - Occasional3
HP:0003271HP:0001744Splenomegaly1TET2 CL E G H5479025941ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040283 - Occasional3
HP:0003271HP:0002240Hepatomegaly1TFE3 CL E G H703011752OMIM:301066INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0003271HP:0001744Splenomegaly1TFE3 CL E G H703011752OMIM:301066INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0003271HP:0002240Hepatomegaly1TGFB1 CL E G H704011766ORPHA:1328Camurati-Engelmann diseaseHP:0040283 - Occasional13
HP:0003271HP:0001744Splenomegaly1TGFB1 CL E G H704011766ORPHA:1328Camurati-Engelmann diseaseHP:0040283 - Occasional13
HP:0003271HP:0001744Splenomegaly1TGFB1 CL E G H704011766OMIM:219700Cystic fibrosis13
HP:0003271HP:0002240Hepatomegaly1TGFB1 CL E G H704011766OMIM:219700Cystic fibrosis13
HP:0003271HP:0001744Splenomegaly1THPO CL E G H706611795ORPHA:71493Familial thrombocytosisHP:0040282 - Frequent23
HP:0003271HP:0001744Splenomegaly1THPO CL E G H706611795OMIM:187950THROMBOCYTHEMIA 1; THCYT123
HP:0003271HP:0002240Hepatomegaly1TIMMDC1 CL E G H513001321ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent1
HP:0003271HP:0002240Hepatomegaly1TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional60
HP:0003271HP:0001744Splenomegaly1TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional60
HP:0003271HP:0002240Hepatomegaly1TKFC CL E G H2600724552OMIM:618805TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0003271HP:0002240Hepatomegaly1TKT CL E G H708611834ORPHA:488618Transketolase deficiencyHP:0040283 - Occasional4
HP:0003271HP:0001744Splenomegaly1TLR4 CL E G H709911850ORPHA:117Behçet diseaseHP:0040283 - Occasional3
HP:0003271HP:0001744Splenomegaly1TLR8 CL E G H5131115632OMIM:301078IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0003271HP:0002240Hepatomegaly1TLR8 CL E G H5131115632OMIM:301078IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0003271HP:0002240Hepatomegaly1TMEM126B CL E G H5586330883ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent4
HP:0003271HP:0002240Hepatomegaly1TMEM165 CL E G H5585830760OMIM:614727Congenital disorder of glycosylation, type IIK.24
HP:0003271HP:0001744Splenomegaly1TMEM67 CL E G H9114728396OMIM:216360Coach syndrome 1.166
HP:0003271HP:0002240Hepatomegaly1TMEM67 CL E G H9114728396OMIM:216360Coach syndrome 1166
HP:0003271HP:0001744Splenomegaly1TMEM67 CL E G H9114728396ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional166
HP:0003271HP:0002240Hepatomegaly1TMEM67 CL E G H9114728396ORPHA:1454Joubert syndrome with hepatic defectHP:0040281 - Very frequent166
HP:0003271HP:0002240Hepatomegaly1TMEM67 CL E G H9114728396OMIM:607361Meckel syndrome 3166
HP:0003271HP:0002240Hepatomegaly1TMEM67 CL E G H9114728396ORPHA:84081Senior-Boichis syndrome166
HP:0003271HP:0001744Splenomegaly1TMEM67 CL E G H9114728396ORPHA:84081Senior-Boichis syndrome166
HP:0003271HP:0002240Hepatomegaly1TMEM70 CL E G H5496826050ORPHA:1194TMEM70-related mitochondrial encephalo-cardio-myopathyHP:0040282 - Frequent63
HP:0003271HP:0002240Hepatomegaly1TNFRSF11A CL E G H879211908OMIM:612301OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB772
HP:0003271HP:0001744Splenomegaly1TNFRSF11A CL E G H879211908OMIM:612301OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB772
HP:0003271HP:0001744Splenomegaly1TNFRSF13B CL E G H2349518153ORPHA:1572Common variable immunodeficiencyHP:0040282 - Frequent32
HP:0003271HP:0002240Hepatomegaly1TNFRSF13B CL E G H2349518153OMIM:240500Immunodeficiency, common variable, 2.32
HP:0003271HP:0001744Splenomegaly1TNFRSF13B CL E G H2349518153OMIM:240500Immunodeficiency, common variable, 2.32
HP:0003271HP:0001744Splenomegaly1TNFRSF13C CL E G H11565017755ORPHA:1572Common variable immunodeficiencyHP:0040282 - Frequent12
HP:0003271HP:0001744Splenomegaly1TNFRSF13C CL E G H11565017755OMIM:240500Immunodeficiency, common variable, 2.12
HP:0003271HP:0002240Hepatomegaly1TNFRSF13C CL E G H11565017755OMIM:240500Immunodeficiency, common variable, 2.12
HP:0003271HP:0002240Hepatomegaly1TNFRSF1A CL E G H713211916OMIM:142680Periodic fever, familial, autosomal dominant131
HP:0003271HP:0001744Splenomegaly1TNFRSF1A CL E G H713211916ORPHA:32960Tumor necrosis factor receptor 1 associated periodic syndromeHP:0040282 - Frequent131
HP:0003271HP:0002240Hepatomegaly1TNFRSF1B CL E G H713311917ORPHA:2584Classic mycosis fungoidesHP:0040283 - Occasional
HP:0003271HP:0001744Splenomegaly1TNFRSF1B CL E G H713311917ORPHA:2584Classic mycosis fungoidesHP:0040283 - Occasional
HP:0003271HP:0001744Splenomegaly1TNFRSF1B CL E G H713311917ORPHA:3162Sézary syndromeHP:0040282 - Frequent
HP:0003271HP:0002240Hepatomegaly1TNFRSF1B CL E G H713311917ORPHA:3162Sézary syndromeHP:0040282 - Frequent
HP:0003271HP:0001744Splenomegaly1TNFRSF4 CL E G H729311918OMIM:615593Immunodeficiency 162
HP:0003271HP:0001744Splenomegaly1TNFSF11 CL E G H860011926ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent44
HP:0003271HP:0002240Hepatomegaly1TNFSF11 CL E G H860011926ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent44
HP:0003271HP:0002240Hepatomegaly1TNFSF11 CL E G H860011926OMIM:259710Osteopetrosis, autosomal recessive 244
HP:0003271HP:0001744Splenomegaly1TNFSF11 CL E G H860011926OMIM:259710Osteopetrosis, autosomal recessive 244
HP:0003271HP:0001744Splenomegaly1TNFSF12 CL E G H874211927ORPHA:1572Common variable immunodeficiencyHP:0040282 - Frequent1
HP:0003271HP:0002240Hepatomegaly1TNNI3 CL E G H713711947ORPHA:75249Familial isolated restrictive cardiomyopathyHP:0040283 - Occasional180
HP:0003271HP:0002240Hepatomegaly1TNNT2 CL E G H713911949ORPHA:75249Familial isolated restrictive cardiomyopathyHP:0040283 - Occasional248
HP:0003271HP:0002240Hepatomegaly1TOGARAM1 CL E G H2311619959OMIM:619185JOUBERT SYNDROME 37; JBTS37
HP:0003271HP:0001744Splenomegaly1TOM1 CL E G H1004311982ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0003271HP:0002240Hepatomegaly1TOM1 CL E G H1004311982ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0003271HP:0001744Splenomegaly1TP53 CL E G H715711998ORPHA:3318Essential thrombocythemiaHP:0040282 - Frequent911
HP:0003271HP:0002240Hepatomegaly1TP53 CL E G H715711998ORPHA:1333Familial pancreatic carcinoma911
HP:0003271HP:0001744Splenomegaly1TP53 CL E G H715711998ORPHA:1333Familial pancreatic carcinoma911
HP:0003271HP:0001744Splenomegaly1TPI1 CL E G H716712009OMIM:615512Triosephosphate isomerase deficiency.28
HP:0003271HP:0001744Splenomegaly1TPP2 CL E G H717412016ORPHA:444463Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndromeHP:0040282 - Frequent
HP:0003271HP:0001744Splenomegaly1TPP2 CL E G H717412016OMIM:619220IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0003271HP:0002240Hepatomegaly1TRAPPC11 CL E G H6068425751OMIM:615356Muscular dystrophy, limb-girdle, autosomal recessive 18HP:0040283 - Occasional27
HP:0003271HP:0002240Hepatomegaly1TRAPPC11 CL E G H6068425751ORPHA:369840TRAPPC11-related limb-girdle muscular dystrophy R18HP:0040282 - Frequent27
HP:0003271HP:0001744Splenomegaly1TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndrome56
HP:0003271HP:0002240Hepatomegaly1TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndrome56
HP:0003271HP:0001744Splenomegaly1TREX1 CL E G H1127712269OMIM:225750Aicardi-Goutieres syndrome 1HP:0040283 - Occasional56
HP:0003271HP:0002240Hepatomegaly1TREX1 CL E G H1127712269OMIM:225750Aicardi-Goutieres syndrome 156
HP:0003271HP:0002240Hepatomegaly1TRIM37 CL E G H45917523OMIM:253250Mulibrey nanism78
HP:0003271HP:0002240Hepatomegaly1TRIM37 CL E G H45917523ORPHA:2576Mulibrey nanismHP:0040282 - Frequent78
HP:0003271HP:0002240Hepatomegaly1TRMU CL E G H5568725481OMIM:613070Liver failure, infantile, transient.101
HP:0003271HP:0002240Hepatomegaly1TRMU CL E G H5568725481ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiencyHP:0040283 - Occasional101
HP:0003271HP:0002240Hepatomegaly1TRNE CL E G H45567479ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiencyHP:0040283 - Occasional
HP:0003271HP:0002240Hepatomegaly1TRNK CL E G H45667489ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0003271HP:0002240Hepatomegaly1TRNL1 CL E G H45677490ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0003271HP:0002240Hepatomegaly1TRNN CL E G H45707493OMIM:220110Mitochondrial complex IV deficiency.
HP:0003271HP:0002240Hepatomegaly1TRNS1 CL E G H45747497OMIM:220110Mitochondrial complex IV deficiency.
HP:0003271HP:0001744Splenomegaly1TRNT1 CL E G H5109517341OMIM:616084SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD28
HP:0003271HP:0002240Hepatomegaly1TRNV CL E G H45777500ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0003271HP:0002240Hepatomegaly1TRNW CL E G H45787501ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0003271HP:0002240Hepatomegaly1TRPV6 CL E G H5550314006ORPHA:417Neonatal severe primary hyperparathyroidismHP:0040281 - Very frequent4
HP:0003271HP:0001744Splenomegaly1TRPV6 CL E G H5550314006ORPHA:417Neonatal severe primary hyperparathyroidismHP:0040281 - Very frequent4
HP:0003271HP:0002240Hepatomegaly1TSFM CL E G H1010212367OMIM:610505Combined oxidative phosphorylation deficiency 3.43
HP:0003271HP:0002240Hepatomegaly1TTC26 CL E G H7998921882OMIM:619534BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0003271HP:0001744Splenomegaly1TTC26 CL E G H7998921882OMIM:619534BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0003271HP:0002240Hepatomegaly1TUFM CL E G H728412420OMIM:610678Combined oxidative phosphorylation deficiency 455
HP:0003271HP:0002240Hepatomegaly1TULP3 CL E G H728912425OMIM:619902
HP:0003271HP:0001744Splenomegaly1TULP3 CL E G H728912425OMIM:619902
HP:0003271HP:0001744Splenomegaly1TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional1
HP:0003271HP:0002240Hepatomegaly1TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional1
HP:0003271HP:0001744Splenomegaly1UBAC2 CL E G H33786720486ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0003271HP:0002240Hepatomegaly1UCP2 CL E G H735112518ORPHA:276556Hyperinsulinism due to UCP2 deficiencyHP:0040283 - Occasional15
HP:0003271HP:0001744Splenomegaly1UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0003271HP:0001744Splenomegaly1UMPS CL E G H737212563ORPHA:30Hereditary orotic aciduriaHP:0040282 - Frequent135
HP:0003271HP:0001744Splenomegaly1UNC13D CL E G H20129423147ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040282 - Frequent116
HP:0003271HP:0002240Hepatomegaly1UNC13D CL E G H20129423147ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040282 - Frequent116
HP:0003271HP:0002240Hepatomegaly1UNC13D CL E G H20129423147OMIM:608898HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3116
HP:0003271HP:0001744Splenomegaly1UNC13D CL E G H20129423147OMIM:608898HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3116
HP:0003271HP:0002240Hepatomegaly1UQCRB CL E G H738112582OMIM:615158Mitochondrial complex III deficiency, nuclear type 3.13
HP:0003271HP:0001744Splenomegaly1UROD CL E G H738912591ORPHA:95159Hepatoerythropoietic porphyriaHP:0040283 - Occasional31
HP:0003271HP:0001744Splenomegaly1UROS CL E G H739012592ORPHA:79277Congenital erythropoietic porphyriaHP:0040283 - Occasional41
HP:0003271HP:0001744Splenomegaly1UROS CL E G H739012592OMIM:263700Porphyria, congenital erythropoietic.41
HP:0003271HP:0002240Hepatomegaly1USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional8
HP:0003271HP:0001744Splenomegaly1USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional8
HP:0003271HP:0001744Splenomegaly1USB1 CL E G H7965025792OMIM:604173Poikiloderma with neutropenia8
HP:0003271HP:0002240Hepatomegaly1USP18 CL E G H1127412616OMIM:617397Pseudo-Torch syndrome 2.2
HP:0003271HP:0001744Splenomegaly1USP53 CL E G H5453229255OMIM:619658CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS; PFIC7
HP:0003271HP:0002240Hepatomegaly1VIPAS39 CL E G H6389420347OMIM:613404Arthrogryposis, renal dysfunction, and cholestasis 227
HP:0003271HP:0001744Splenomegaly1VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040283 - Occasional130
HP:0003271HP:0002240Hepatomegaly1VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040283 - Occasional130
HP:0003271HP:0001744Splenomegaly1VPS33A CL E G H6508218179ORPHA:505248Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders1
HP:0003271HP:0002240Hepatomegaly1VPS33A CL E G H6508218179ORPHA:505248Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders1
HP:0003271HP:0002240Hepatomegaly1VPS33A CL E G H6508218179OMIM:617303Mucopolysaccharidosis-Plus syndrome1
HP:0003271HP:0001744Splenomegaly1VPS33A CL E G H6508218179OMIM:617303Mucopolysaccharidosis-Plus syndrome1
HP:0003271HP:0001744Splenomegaly1VPS33B CL E G H2627612712OMIM:62001063
HP:0003271HP:0002240Hepatomegaly1VPS33B CL E G H2627612712OMIM:62001063
HP:0003271HP:0002240Hepatomegaly1VPS45 CL E G H1131114579OMIM:615285Neutropenia, severe congenital, 5, autosomal recessive.7
HP:0003271HP:0001744Splenomegaly1VPS45 CL E G H1131114579OMIM:615285Neutropenia, severe congenital, 5, autosomal recessive.7
HP:0003271HP:0002240Hepatomegaly1VPS4A CL E G H2718313488OMIM:619273CIMDAG SYNDROME; CIMDAG1
HP:0003271HP:0001744Splenomegaly1WDR1 CL E G H994812754OMIM:150550Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0003271HP:0002240Hepatomegaly1WDR19 CL E G H5772818340OMIM:614376Short-Rib thoracic dysplasia 5 with or without polydactyly95
HP:0003271HP:0002240Hepatomegaly1WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2.136
HP:0003271HP:0001744Splenomegaly1WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2.136
HP:0003271HP:0001744Splenomegaly1WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional40
HP:0003271HP:0002240Hepatomegaly1WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional40
HP:0003271HP:0002240Hepatomegaly1WT1 CL E G H749012796ORPHA:83469Desmoplastic small round cell tumorHP:0040282 - Frequent177
HP:0003271HP:0001744Splenomegaly1XIAP CL E G H331592OMIM:308240Lymphoproliferative syndrome, X-linked, 181
HP:0003271HP:0002240Hepatomegaly1XIAP CL E G H331592OMIM:308240Lymphoproliferative syndrome, X-linked, 181
HP:0003271HP:0002240Hepatomegaly1XIAP CL E G H331592OMIM:300635Lymphoproliferative syndrome, X-linked, 2.81
HP:0003271HP:0001744Splenomegaly1XIAP CL E G H331592OMIM:300635Lymphoproliferative syndrome, X-linked, 281
HP:0003271HP:0001744Splenomegaly1XK CL E G H750412811OMIM:300842Mcleod syndrome8
HP:0003271HP:0002240Hepatomegaly1XK CL E G H750412811OMIM:300842Mcleod syndrome8
HP:0003271HP:0002240Hepatomegaly1XPR1 CL E G H921312827ORPHA:1980Bilateral striopallidodentate calcinosisHP:0040281 - Very frequent4
HP:0003271HP:0002240Hepatomegaly1XRCC4 CL E G H751812831ORPHA:99812LIG4 syndromeHP:0040283 - Occasional9
HP:0003271HP:0002240Hepatomegaly1XYLT1 CL E G H6413115516ORPHA:370930XYLT1-CDGHP:0040282 - Frequent14
HP:0003271HP:0001744Splenomegaly1YARS1 CL E G H856512840OMIM:619418NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0003271HP:0002240Hepatomegaly1YARS1 CL E G H856512840OMIM:619418NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0003271HP:0002240Hepatomegaly1YARS2 CL E G H5106724249OMIM:613561Myopathy, lactic acidosis, and sideroblastic anemia 2HP:0040283 - Occasional45
HP:0003271HP:0001744Splenomegaly1ZAP70 CL E G H753512858ORPHA:911Combined immunodeficiency due to ZAP70 deficiency46
HP:0003271HP:0002240Hepatomegaly1ZAP70 CL E G H753512858ORPHA:911Combined immunodeficiency due to ZAP70 deficiency46
HP:0003271HP:0002240Hepatomegaly1ZAP70 CL E G H753512858OMIM:269840SELECTIVE T-CELL DEFECT.46
HP:0003271HP:0001744Splenomegaly1ZAP70 CL E G H753512858OMIM:269840SELECTIVE T-CELL DEFECT.46
HP:0003271HP:0001744Splenomegaly1ZFYVE19 CL E G H8493620758OMIM:619849
HP:0003271HP:0002240Hepatomegaly1ZFYVE19 CL E G H8493620758OMIM:619849
HP:0003271HP:0002240Hepatomegaly1ZIC3 CL E G H754712874OMIM:306955Heterotaxy, visceral, 1, X-linked39
HP:0003271HP:0001744Splenomegaly1ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0003271HP:0002240Hepatomegaly1ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0003271HP:0001744Splenomegaly1ZNFX1 CL E G H5716929271OMIM:619644IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0003271HP:0002240Hepatomegaly1ZNFX1 CL E G H5716929271OMIM:619644IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0003271HP:0001433Hepatosplenomegaly2ABCA1 CL E G H1929ORPHA:31150Tangier diseaseHP:0040282 - Frequent191
HP:0003271HP:0001433Hepatosplenomegaly2ADA2 CL E G H518161839OMIM:615688Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome22
HP:0003271HP:0001433Hepatosplenomegaly2ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent116
HP:0003271HP:0001433Hepatosplenomegaly2ALG9 CL E G H7979615672OMIM:608776Congenital disorder of glycosylation, type Il93
HP:0003271HP:0001433Hepatosplenomegaly2ALMS1 CL E G H7840428ORPHA:64Alström syndromeHP:0040283 - Occasional404
HP:0003271HP:0001433Hepatosplenomegaly2ANKRD55 CL E G H7972225681ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040284 - Very rare
HP:0003271HP:0001433Hepatosplenomegaly2AP3B1 CL E G H8546566OMIM:608233Hermansky-Pudlak syndrome 283
HP:0003271HP:0001433Hepatosplenomegaly2ASAH1 CL E G H427735ORPHA:333Farber diseaseHP:0040283 - Occasional78
HP:0003271HP:0001433Hepatosplenomegaly2ASXL1 CL E G H17102318318ORPHA:98850Aggressive systemic mastocytosisHP:0040282 - Frequent145
HP:0003271HP:0001433Hepatosplenomegaly2BRCA1 CL E G H6721100ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional5769
HP:0003271HP:0001433Hepatosplenomegaly2BRCA2 CL E G H6751101ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional7642
HP:0003271HP:0001433Hepatosplenomegaly2CA2 CL E G H7601373OMIM:259730Osteopetrosis, autosomal recessive 3.29
HP:0003271HP:0001433Hepatosplenomegaly2CALR CL E G H8111455ORPHA:824Primary myelofibrosisHP:0040282 - Frequent1
HP:0003271HP:0001433Hepatosplenomegaly2CAV1 CL E G H8571527OMIM:612526Lipodystrophy, congenital generalized, type 311
HP:0003271HP:0001433Hepatosplenomegaly2CBL CL E G H8671541ORPHA:98850Aggressive systemic mastocytosisHP:0040282 - Frequent317
HP:0003271HP:0001433Hepatosplenomegaly2CCDC115 CL E G H8431728178OMIM:616828Congenital disorder of glycosylation, type IIO3
HP:0003271HP:0001433Hepatosplenomegaly2CD247 CL E G H9191677ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040284 - Very rare8
HP:0003271HP:0001433Hepatosplenomegaly2CD247 CL E G H9191677ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zetaHP:0040283 - Occasional8
HP:0003271HP:0001433Hepatosplenomegaly2CD27 CL E G H93911922OMIM:615122Lymphoproliferative syndrome 24
HP:0003271HP:0001433Hepatosplenomegaly2CD3D CL E G H9151673ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zetaHP:0040283 - Occasional18
HP:0003271HP:0001433Hepatosplenomegaly2CD3E CL E G H9161674ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zetaHP:0040283 - Occasional24
HP:0003271HP:0001433Hepatosplenomegaly2CD70 CL E G H97011937OMIM:618261LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0003271HP:0001433Hepatosplenomegaly2CDKN2A CL E G H10291787ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional289
HP:0003271HP:0001433Hepatosplenomegaly2CFTR CL E G H10801884OMIM:219700Cystic fibrosis1371
HP:0003271HP:0001433Hepatosplenomegaly2CLCN7 CL E G H11862025ORPHA:210110Intermediate osteopetrosisHP:0040284 - Very rare102
HP:0003271HP:0001433Hepatosplenomegaly2COG1 CL E G H93826545ORPHA:263508COG1-CDGHP:0040283 - Occasional52
HP:0003271HP:0001433Hepatosplenomegaly2COG4 CL E G H2583918620ORPHA:263501COG4-CDGHP:0040282 - Frequent67
HP:0003271HP:0001433Hepatosplenomegaly2COG5 CL E G H1046614857ORPHA:263487COG5-CDGHP:0040283 - Occasional79
HP:0003271HP:0001433Hepatosplenomegaly2COG7 CL E G H9194918622ORPHA:79333COG7-CDG64
HP:0003271HP:0001433Hepatosplenomegaly2CSF3R CL E G H14412439OMIM:162830Neutrophilia, hereditary.34
HP:0003271HP:0001433Hepatosplenomegaly2CTSA CL E G H54769251OMIM:256540GalactosialidosisHP:0040283 - Occasional51
HP:0003271HP:0001433Hepatosplenomegaly2CTSK CL E G H15132536ORPHA:763Pycnodysostosis39
HP:0003271HP:0001433Hepatosplenomegaly2CYBC1 CL E G H7941528672OMIM:618935GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0003271HP:0001433Hepatosplenomegaly2CYP7B1 CL E G H94202652ORPHA:79302Congenital bile acid synthesis defect type 357
HP:0003271HP:0001433Hepatosplenomegaly2DCDC2 CL E G H5147318141ORPHA:84081Senior-Boichis syndrome8
HP:0003271HP:0001433Hepatosplenomegaly2DDRGK1 CL E G H6599216110ORPHA:93352Spondyloepimetaphyseal dysplasia, Shohat typeHP:0040283 - Occasional
HP:0003271HP:0001433Hepatosplenomegaly2DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0003271HP:0001433Hepatosplenomegaly2DNASE2 CL E G H17772960OMIM:619858
HP:0003271HP:0001433Hepatosplenomegaly2DPM1 CL E G H88133005ORPHA:79322DPM1-CDGHP:0040283 - Occasional27
HP:0003271HP:0001433Hepatosplenomegaly2DZIP1L CL E G H19922126551ORPHA:731Autosomal recessive polycystic kidney diseaseHP:0040283 - Occasional4
HP:0003271HP:0001433Hepatosplenomegaly2DZIP1L CL E G H19922126551OMIM:617610Polycystic kidney disease 54
HP:0003271HP:0001433Hepatosplenomegaly2FARSA CL E G H21933592OMIM:619013RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0003271HP:0001433Hepatosplenomegaly2FCGR2A CL E G H22123616OMIM:219700Cystic fibrosis6
HP:0003271HP:0001433Hepatosplenomegaly2FERMT3 CL E G H8370623151OMIM:612840Leukocyte adhesion deficiency, type III23
HP:0003271HP:0001433Hepatosplenomegaly2FGFR2 CL E G H22633689OMIM:614592Bent bone dysplasia syndromeHP:0040283 - Occasional175
HP:0003271HP:0001433Hepatosplenomegaly2FGFR2 CL E G H22633689ORPHA:313855FGFR2-related bent bone dysplasiaHP:0040283 - Occasional175
HP:0003271HP:0001433Hepatosplenomegaly2G6PC3 CL E G H9257924861OMIM:612541Neutropenia, severe congenital, 4, autosomal recessive37
HP:0003271HP:0001433Hepatosplenomegaly2GALK1 CL E G H25844118ORPHA:79237Galactokinase deficiencyHP:0040283 - Occasional23
HP:0003271HP:0001433Hepatosplenomegaly2GBA1 CL E G H26294177OMIM:608013Gaucher disease, perinatal lethal
HP:0003271HP:0001433Hepatosplenomegaly2GBA1 CL E G H26294177ORPHA:2072Gaucher disease-ophthalmoplegia-cardiovascular calcification syndromeHP:0040282 - Frequent
HP:0003271HP:0001433Hepatosplenomegaly2GBE1 CL E G H26324180OMIM:232500Glycogen storage disease IV.86
HP:0003271HP:0001433Hepatosplenomegaly2GCLC CL E G H27294311ORPHA:33574Glutamate-cysteine ligase deficiencyHP:0040283 - Occasional2
HP:0003271HP:0001433Hepatosplenomegaly2GLB1 CL E G H27204298ORPHA:79255GM1 gangliosidosis type 1HP:0040281 - Very frequent120
HP:0003271HP:0001433Hepatosplenomegaly2GLRX5 CL E G H5121820134OMIM:616860Anemia, sideroblastic, 3, pyridoxine-refractory17
HP:0003271HP:0001433Hepatosplenomegaly2GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0003271HP:0001433Hepatosplenomegaly2GNE CL E G H1002023657ORPHA:3166SialuriaHP:0040281 - Very frequent173
HP:0003271HP:0001433Hepatosplenomegaly2GNPTAB CL E G H7915829670ORPHA:576Mucolipidosis type IIHP:0040283 - Occasional240
HP:0003271HP:0001433Hepatosplenomegaly2GPR35 CL E G H28594492ORPHA:171Primary sclerosing cholangitisHP:0040282 - Frequent2
HP:0003271HP:0001433Hepatosplenomegaly2HAVCR2 CL E G H8486818437ORPHA:86884Subcutaneous panniculitis-like T-cell lymphomaHP:0040282 - Frequent
HP:0003271HP:0001433Hepatosplenomegaly2HBB CL E G H30434827ORPHA:231222Beta-thalassemia intermediaHP:0040283 - Occasional580
HP:0003271HP:0001433Hepatosplenomegaly2HBB CL E G H30434827ORPHA:231214Beta-thalassemia majorHP:0040283 - Occasional580
HP:0003271HP:0001433Hepatosplenomegaly2HBB CL E G H30434827ORPHA:231226Dominant beta-thalassemiaHP:0040283 - Occasional580
HP:0003271HP:0001433Hepatosplenomegaly2HEXB CL E G H30744879OMIM:268800Sandhoff disease.80
HP:0003271HP:0001433Hepatosplenomegaly2HEXB CL E G H30744879ORPHA:309155Sandhoff disease, infantile form80
HP:0003271HP:0001433Hepatosplenomegaly2IARS1 CL E G H33765330ORPHA:541423Growth delay-intellectual disability-hepatopathy syndromeHP:0040283 - Occasional
HP:0003271HP:0001433Hepatosplenomegaly2IDS CL E G H34235389ORPHA:217093Mucopolysaccharidosis type 2, attenuated formHP:0040283 - Occasional86
HP:0003271HP:0001433Hepatosplenomegaly2IDS CL E G H34235389ORPHA:217085Mucopolysaccharidosis type 2, severe formHP:0040283 - Occasional86
HP:0003271HP:0001433Hepatosplenomegaly2IDS CL E G H34235389OMIM:309900Mucopolysaccharidosis, type II86
HP:0003271HP:0001433Hepatosplenomegaly2IDUA CL E G H34255391OMIM:607014Hurler syndrome.115
HP:0003271HP:0001433Hepatosplenomegaly2IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent28
HP:0003271HP:0001433Hepatosplenomegaly2IFNG CL E G H34585438OMIM:618963IMMUNODEFICIENCY 69; IMD6923
HP:0003271HP:0001433Hepatosplenomegaly2IFNGR1 CL E G H34595439OMIM:209950Immunodeficiency 27A, mycobacteriosis, AR60
HP:0003271HP:0001433Hepatosplenomegaly2IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0003271HP:0001433Hepatosplenomegaly2IKBKG CL E G H85175961OMIM:30108152
HP:0003271HP:0001433Hepatosplenomegaly2IL2RA CL E G H35596008OMIM:606367IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD4165
HP:0003271HP:0001433Hepatosplenomegaly2IL2RA CL E G H35596008ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040284 - Very rare65
HP:0003271HP:0001433Hepatosplenomegaly2IL2RB CL E G H35606009ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040284 - Very rare
HP:0003271HP:0001433Hepatosplenomegaly2IL6ST CL E G H35726021OMIM:619750IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0003271HP:0001433Hepatosplenomegaly2IL7R CL E G H35756024ORPHA:169154T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiencyHP:0040283 - Occasional94
HP:0003271HP:0001433Hepatosplenomegaly2ITCH CL E G H8373713890ORPHA:228426Syndromic multisystem autoimmune disease due to Itch deficiencyHP:0040281 - Very frequent3
HP:0003271HP:0001433Hepatosplenomegaly2JAK1 CL E G H37166190OMIM:618999AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE12
HP:0003271HP:0001433Hepatosplenomegaly2JAK2 CL E G H37176192ORPHA:824Primary myelofibrosisHP:0040282 - Frequent57
HP:0003271HP:0001433Hepatosplenomegaly2JAK3 CL E G H37186193ORPHA:35078T-B+ severe combined immunodeficiency due to JAK3 deficiencyHP:0040284 - Very rare140
HP:0003271HP:0001433Hepatosplenomegaly2KIF3B CL E G H93716320OMIM:618955RETINITIS PIGMENTOSA 89; RP89
HP:0003271HP:0001433Hepatosplenomegaly2KLF1 CL E G H106616345OMIM:613673Anemia, dyserythropoietic congenital, type IV42
HP:0003271HP:0001433Hepatosplenomegaly2KPTN CL E G H111336404ORPHA:397612Macrocephaly-developmental delay syndromeHP:0040283 - Occasional13
HP:0003271HP:0001433Hepatosplenomegaly2KRAS CL E G H38456407ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional196
HP:0003271HP:0001433Hepatosplenomegaly2LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0003271HP:0001433Hepatosplenomegaly2LIPA CL E G H39886617OMIM:278000Lysosomal acid lipase deficiency73
HP:0003271HP:0001433Hepatosplenomegaly2LPIN2 CL E G H966314450OMIM:609628MAJEED SYNDROME; MJDS186
HP:0003271HP:0001433Hepatosplenomegaly2LPL CL E G H40236677OMIM:238600Type I hyperlipoproteinemia.106
HP:0003271HP:0001433Hepatosplenomegaly2LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent
HP:0003271HP:0001433Hepatosplenomegaly2LYST CL E G H11301968ORPHA:167Chédiak-Higashi syndromeHP:0040282 - Frequent239
HP:0003271HP:0001433Hepatosplenomegaly2MAN2B1 CL E G H41256826ORPHA:309288Alpha-mannosidosis, adult formHP:0040283 - Occasional136
HP:0003271HP:0001433Hepatosplenomegaly2MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile formHP:0040282 - Frequent136
HP:0003271HP:0001433Hepatosplenomegaly2MED12 CL E G H996811957OMIM:301068HARDIKAR SYNDROME; HDKR228
HP:0003271HP:0001433Hepatosplenomegaly2MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0003271HP:0001433Hepatosplenomegaly2MOGS CL E G H784124862ORPHA:79330MOGS-CDGHP:0040283 - Occasional37
HP:0003271HP:0001433Hepatosplenomegaly2MPL CL E G H43527217ORPHA:824Primary myelofibrosisHP:0040282 - Frequent97
HP:0003271HP:0001433Hepatosplenomegaly2MST1 CL E G H44857380ORPHA:171Primary sclerosing cholangitisHP:0040282 - Frequent1
HP:0003271HP:0001433Hepatosplenomegaly2MVK CL E G H45987530OMIM:260920Hyper-Igd syndrome150
HP:0003271HP:0006564Fluctuating hepatomegaly2MVK CL E G H45987530OMIM:610377Mevalonic aciduria.150
HP:0003271HP:0001433Hepatosplenomegaly2MVK CL E G H45987530OMIM:610377Mevalonic aciduria150
HP:0003271HP:0006268Fluctuating splenomegaly2MVK CL E G H45987530OMIM:610377Mevalonic aciduria.150
HP:0003271HP:0001433Hepatosplenomegaly2NCKAP1L CL E G H30714862OMIM:618982IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0003271HP:0001433Hepatosplenomegaly2NEU1 CL E G H47587758ORPHA:93400Congenital sialidosis type 2HP:0040282 - Frequent43
HP:0003271HP:0001433Hepatosplenomegaly2NEU1 CL E G H47587758ORPHA:93399Juvenile sialidosis type 2HP:0040283 - Occasional43
HP:0003271HP:0001433Hepatosplenomegaly2NHLRC2 CL E G H37435424731OMIM:618278Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0003271HP:0001433Hepatosplenomegaly2NLRP3 CL E G H11454816400OMIM:607115CINCA SYNDROME; CINCA217
HP:0003271HP:0001433Hepatosplenomegaly2NPHP3 CL E G H270317907OMIM:267010MECKEL SYNDROME, TYPE 7; MKS7157
HP:0003271HP:0001433Hepatosplenomegaly2OSTM1 CL E G H2896221652OMIM:259720Osteopetrosis, autosomal recessive 573
HP:0003271HP:0001433Hepatosplenomegaly2PALB2 CL E G H7972826144ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional1349
HP:0003271HP:0001433Hepatosplenomegaly2PALLD CL E G H2302217068ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional192
HP:0003271HP:0001433Hepatosplenomegaly2PEX2 CL E G H58289717OMIM:614866Peroxisome biogenesis disorder 5A (Zellweger).82
HP:0003271HP:0001433Hepatosplenomegaly2PKHD1 CL E G H53149016ORPHA:731Autosomal recessive polycystic kidney diseaseHP:0040283 - Occasional563
HP:0003271HP:0001433Hepatosplenomegaly2PLEKHM1 CL E G H984229017ORPHA:210110Intermediate osteopetrosisHP:0040284 - Very rare2
HP:0003271HP:0001433Hepatosplenomegaly2PRF1 CL E G H55519360OMIM:603553Hemophagocytic lymphohistiocytosis, familial, 258
HP:0003271HP:0001433Hepatosplenomegaly2PRKCD CL E G H55809399OMIM:615559AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS310
HP:0003271HP:0001433Hepatosplenomegaly2PSTPIP1 CL E G H90519580OMIM:604416Pyogenic sterile arthritis, pyoderma gangrenosum, and acne96
HP:0003271HP:0001433Hepatosplenomegaly2PTPN2 CL E G H57719650ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040284 - Very rare
HP:0003271HP:0001433Hepatosplenomegaly2PTPN22 CL E G H261919652ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040284 - Very rare3
HP:0003271HP:0001433Hepatosplenomegaly2PTPRC CL E G H57889666OMIM:61992425
HP:0003271HP:0001433Hepatosplenomegaly2RAB27A CL E G H58739766OMIM:607624Griscelli syndrome, type 267
HP:0003271HP:0001433Hepatosplenomegaly2RABL3 CL E G H28528218072ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional
HP:0003271HP:0001433Hepatosplenomegaly2RAC2 CL E G H58809802OMIM:618986IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B9
HP:0003271HP:0001433Hepatosplenomegaly2RAG1 CL E G H58969831ORPHA:331206Severe combined immunodeficiency due to complete RAG1/2 deficiencyHP:0040283 - Occasional127
HP:0003271HP:0001433Hepatosplenomegaly2RAG2 CL E G H58979832ORPHA:331206Severe combined immunodeficiency due to complete RAG1/2 deficiencyHP:0040283 - Occasional50
HP:0003271HP:0001433Hepatosplenomegaly2RASGRP1 CL E G H101259878OMIM:618534IMMUNODEFICIENCY 64; IMD64
HP:0003271HP:0001433Hepatosplenomegaly2RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0003271HP:0001433Hepatosplenomegaly2RHAG CL E G H600510006ORPHA:71275Rh deficiency syndromeHP:0040283 - Occasional13
HP:0003271HP:0001433Hepatosplenomegaly2RHCE CL E G H600610008ORPHA:71275Rh deficiency syndromeHP:0040283 - Occasional8
HP:0003271HP:0001433Hepatosplenomegaly2RHD CL E G H600710009ORPHA:71275Rh deficiency syndromeHP:0040283 - Occasional16
HP:0003271HP:0001433Hepatosplenomegaly2RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent33
HP:0003271HP:0001433Hepatosplenomegaly2RNASEH2A CL E G H1053518518OMIM:610333Aicardi-Goutieres syndrome 433
HP:0003271HP:0001433Hepatosplenomegaly2RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent34
HP:0003271HP:0001433Hepatosplenomegaly2RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent60
HP:0003271HP:0001433Hepatosplenomegaly2RNASEH2C CL E G H8415324116OMIM:610329Aicardi-Goutieres syndrome 360
HP:0003271HP:0001433Hepatosplenomegaly2RNU4ATAC CL E G H10015168334016ORPHA:353298Roifman syndromeHP:0040282 - Frequent15
HP:0003271HP:0001433Hepatosplenomegaly2RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent
HP:0003271HP:0001433Hepatosplenomegaly2RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0003271HP:0001433Hepatosplenomegaly2RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0003271HP:0001433Hepatosplenomegaly2RUNX1 CL E G H86110471ORPHA:98850Aggressive systemic mastocytosisHP:0040282 - Frequent181
HP:0003271HP:0001433Hepatosplenomegaly2SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent55
HP:0003271HP:0001433Hepatosplenomegaly2SC5D CL E G H630910547OMIM:607330LATHOSTEROLOSIS80
HP:0003271HP:0001433Hepatosplenomegaly2SCYL1 CL E G H5741014372ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndromeHP:0040282 - Frequent5
HP:0003271HP:0001433Hepatosplenomegaly2SEMA4D CL E G H1050710732ORPHA:171Primary sclerosing cholangitisHP:0040282 - Frequent
HP:0003271HP:0001433Hepatosplenomegaly2SLC25A13 CL E G H1016510983ORPHA:247598Neonatal intrahepatic cholestasis due to citrin deficiencyHP:0040282 - Frequent82
HP:0003271HP:0001433Hepatosplenomegaly2SLC29A3 CL E G H5531523096ORPHA:168569H syndromeHP:0040282 - Frequent68
HP:0003271HP:0001433Hepatosplenomegaly2SLC29A3 CL E G H5531523096OMIM:602782Histiocytosis-lymphadenopathy plus syndrome68
HP:0003271HP:0001433Hepatosplenomegaly2SLC2A1 CL E G H651311005ORPHA:168577Hereditary cryohydrocytosis with reduced stomatinHP:0040282 - Frequent255
HP:0003271HP:0001433Hepatosplenomegaly2SLC4A1 CL E G H652111027OMIM:611590Renal tubular acidosis, distal, with hemolytic anemia.109
HP:0003271HP:0001433Hepatosplenomegaly2SLC7A7 CL E G H905611065ORPHA:470Lysinuric protein intoleranceHP:0040282 - Frequent104
HP:0003271HP:0001433Hepatosplenomegaly2SMAD4 CL E G H40896770ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional504
HP:0003271HP:0001433Hepatosplenomegaly2SNX14 CL E G H5723114977ORPHA:397709Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndromeHP:0040283 - Occasional14
HP:0003271HP:0001433Hepatosplenomegaly2SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease61
HP:0003271HP:0001433Hepatosplenomegaly2SP110 CL E G H34315401ORPHA:79124Hepatic veno-occlusive disease-immunodeficiency syndromeHP:0040282 - Frequent49
HP:0003271HP:0001433Hepatosplenomegaly2SRSF2 CL E G H642710783ORPHA:98850Aggressive systemic mastocytosisHP:0040282 - Frequent1
HP:0003271HP:0001433Hepatosplenomegaly2STAT1 CL E G H677211362ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndromeHP:0040282 - Frequent89
HP:0003271HP:0001433Hepatosplenomegaly2STAT3 CL E G H677411364OMIM:615952AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1110
HP:0003271HP:0001433Hepatosplenomegaly2STAT4 CL E G H677511365ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040284 - Very rare2
HP:0003271HP:0001433Hepatosplenomegaly2STEAP3 CL E G H5524024592ORPHA:300298Severe congenital hypochromic anemia with ringed sideroblastsHP:0040283 - Occasional1
HP:0003271HP:0001433Hepatosplenomegaly2STXBP2 CL E G H681311445OMIM:613101HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL570
HP:0003271HP:0001433Hepatosplenomegaly2TALDO1 CL E G H688811559ORPHA:101028Transaldolase deficiencyHP:0040281 - Very frequent34
HP:0003271HP:0001433Hepatosplenomegaly2TALDO1 CL E G H688811559OMIM:606003Transaldolase deficiency34
HP:0003271HP:0001433Hepatosplenomegaly2TCF4 CL E G H692511634ORPHA:171Primary sclerosing cholangitisHP:0040282 - Frequent241
HP:0003271HP:0001433Hepatosplenomegaly2TCIRG1 CL E G H1031211647ORPHA:210110Intermediate osteopetrosisHP:0040284 - Very rare82
HP:0003271HP:0001433Hepatosplenomegaly2TET2 CL E G H5479025941ORPHA:98850Aggressive systemic mastocytosisHP:0040282 - Frequent3
HP:0003271HP:0001433Hepatosplenomegaly2TET2 CL E G H5479025941OMIM:619126IMMUNODEFICIENCY 75; IMD753
HP:0003271HP:0001433Hepatosplenomegaly2TET2 CL E G H5479025941ORPHA:824Primary myelofibrosisHP:0040282 - Frequent3
HP:0003271HP:0001433Hepatosplenomegaly2TFE3 CL E G H703011752OMIM:301066INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0003271HP:0001433Hepatosplenomegaly2TGFB1 CL E G H704011766OMIM:219700Cystic fibrosis13
HP:0003271HP:0001433Hepatosplenomegaly2TMEM67 CL E G H9114728396ORPHA:84081Senior-Boichis syndrome166
HP:0003271HP:0001433Hepatosplenomegaly2TNFSF11 CL E G H860011926OMIM:259710Osteopetrosis, autosomal recessive 2.44
HP:0003271HP:0001433Hepatosplenomegaly2TOM1 CL E G H1004311982ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndromeHP:0040282 - Frequent
HP:0003271HP:0001433Hepatosplenomegaly2TP53 CL E G H715711998ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional911
HP:0003271HP:0006268Fluctuating splenomegaly2TPP2 CL E G H717412016OMIM:619220IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0003271HP:0001433Hepatosplenomegaly2TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent56
HP:0003271HP:0001433Hepatosplenomegaly2TULP3 CL E G H728912425OMIM:619902
HP:0003271HP:0001433Hepatosplenomegaly2UNC13D CL E G H20129423147OMIM:608898HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3116
HP:0003271HP:0001433Hepatosplenomegaly2VPS33A CL E G H6508218179ORPHA:505248Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disordersHP:0040281 - Very frequent1
HP:0003271HP:0001433Hepatosplenomegaly2ZAP70 CL E G H753512858ORPHA:911Combined immunodeficiency due to ZAP70 deficiencyHP:0040283 - Occasional46
HP:0003271HP:0001433Hepatosplenomegaly2ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0003271HP:0001433Hepatosplenomegaly2ZNFX1 CL E G H5716929271OMIM:619644IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91


Genes (714) :ABCA1 ABCB11 ABCB4 ABCC2 ABCC8 ABCD3 ABCG8 ABHD5 ABL1 ACADM ACADVL ACAT1 ACOX1 ADA ADA2 ADAMTS3 ADAMTSL2 ADAR AFF4 AGA AGGF1 AGL AGPAT2 AKR1D1 AKT1 AKT2 ALAS2 ALDH1A2 ALDOA ALDOB ALG1 ALG13 ALG2 ALG8 ALG9 ALMS1 ALPK1 AMACR ANK1 ANKRD55 ANTXR1 AP3B1 AP3D1 APOA1 APOC2 APOE ARG1 ARL13B ARSB ARVCF ASAH1 ASL ASS1 ASXL1 ATAD3A ATM ATP6 ATP6AP1 ATP6AP2 ATP6V1B2 ATP7B ATP8B1 ATPAF2 ATRX AUH B2M B4GALT1 BAAT BACH2 BAP1 BCL11A BCL2 BCL6 BCR BMP2 BMP6 BOLA3 BRAF BRCA1 BRCA2 BSCL2 BTD BTNL2 C1QBP C2ORF69 C4A CA2 CALR CARD11 CASK CASP10 CASP8 CASR CAV1 CAVIN1 CBL CBS CC2D2A CCBE1 CCDC115 CCDC47 CCND1 CCR1 CD19 CD247 CD27 CD28 CD3D CD3E CD40LG CD55 CD70 CD81 CD96 CDAN1 CDIN1 CDKN1C CDKN2A CFAP410 CFTR CHD7 CIDEC CLCN7 CLDN1 CLPB CNTNAP2 COA8 COG1 COG4 COG5 COG6 COG7 COMT COX10 COX14 COX4I2 COX5A CPOX CPT1A CPT2 CR2 CSF3R CTC1 CTLA4 CTNNB1 CTNS CTSA CTSK CYBA CYBB CYBC1 CYP7B1 CYTB DAXX DCDC2 DCLRE1C DDRGK1 DEF6 DGUOK DHCR24 DHCR7 DHDDS DHFR DIS3L2 DKC1 DLD DLK1 DLL4 DNAJC21 DNASE1L3 DNASE2 DOCK2 DPAGT1 DPM1 DPM2 DYNC2LI1 DZIP1L EARS2 EFL1 EIF2AK3 EPB41 EPB42 ERAP1 ERBB3 ERCC1 ERCC4 ERCC6 ERCC8 ETFA ETFB ETFDH EWSR1 EXTL3 F5 FAH FAM111B FARSA FAS FASLG FAT4 FBN1 FBP1 FCGR2A FCHO1 FDX2 FERMT3 FGA FGFR2 FLNC FMO3 FOCAD FOS FOXP3 FOXRED1 FUCA1 G6PC1 G6PC3 G6PD GAA GALE GALK1 GALM GALNS GALT GATA1 GATA2 GBA1 GBE1 GCDH GCLC GEMIN4 GFM1 GIMAP5 GLB1 GLIS3 GLRX5 GNB2 GNE GNMT GNPTAB GNS GP1BA GP1BB GPC3 GPC4 GPD1 GPI GPIHBP1 GPR35 GUCY2D GUSB GYPC H19-ICR HADHA HAMP HAVCR2 HBA1 HBA2 HBB HBG1 HBG2 HEXB HFE HGSNAT HIRA HJV HK1 HLA-B HLA-DRB1 HMGCL HMGCS2 HMOX1 HNF1A HNF4A HPGD HSD17B4 HSD3B7 HYMAI HYOU1 IARS1 ICOS IDS IDUA IFIH1 IFNG IFNGR1 IFT122 IFT140 IFT172 IGF2 IGH IKBKG IKZF3 IL10 IL12A IL12A-AS1 IL18BP IL1RN IL23R IL2RA IL2RB IL2RG IL6 IL6ST IL7R INPP5E INPPL1 INSR IRF2BP2 IRF4 IRF8 ITCH ITK JAK1 JAK2 JAK3 JAM2 JAM3 JMJD1C KCNH1 KCNJ11 KCNN3 KCNN4 KCNQ1 KCNQ1OT1 KIF12 KIF20A KIF3B KIT KLF1 KLRC4 KPTN KRAS LACC1 LAMA5 LARS1 LAT LBR LCAT LIG4 LIPA LIPE LMBRD1 LMNA LPIN2 LPL LRBA LRP5 LSM11 LTBP3 LYRM4 LYST LYZ LZTR1 MADD MAGT1 MAN2B1 MAPK8IP3 MARS1 MCM4 MED12 MEFV MEG3 MET MFN2 MICU1 MIF MKS1 MMAA MMAB MMUT MOGS MPC1 MPI MPIG6B MPL MPV17 MRAS MRPL3 MRPS28 MRPS7 MS4A1 MST1 MTTP MTX2 MVK MYBPC3 MYD88 MYL2 MYO5B MYORG MYPN NAGA NAGLU NAGS NBEAL2 NCF1 NCF2 NCF4 NCKAP1L ND1 ND2 ND3 ND4 ND5 ND6 NDUFA1 NDUFA11 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEK8 NEU1 NFKB1 NFKB2 NGLY1 NHLRC2 NHP2 NLRC4 NLRP1 NLRP12 NLRP3 NOD2 NOP10 NOTCH1 NOTCH2 NPC1 NPC2 NPHP3 NPM1 NRAS NSD2 NUBPL OAS1 OCLN OSTM1 OTC OTUD5 PALB2 PALLD PARN PC PCCA PCCB PCK1 PDGFB PDGFRA PDGFRB PEPD PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGM1 PHKA2 PHKB PHKG2 PHYH PIEZO1 PIGA PIGM PIGS PIK3C2A PIK3CA PIK3CD PIK3CG PIK3R1 PKD2 PKHD1 PKLR PLAGL1 PLEKHM1 PMM2 PNP PNPLA2 POLD1 POLG POLG2 PPARG PPP1R21 PRF1 PRKCD PRKCSH PSAP PSMB10 PSMB4 PSMB8 PSMB9 PSMG2 PSTPIP1 PTEN PTPN11 PTPN2 PTPN22 PTPRC PTRH2 PUS7 PYGL RAB27A RABL3 RAC2 RAF1 RAG1 RAG2 RASA2 RASGRP1 RBCK1 RBM8A REL RFT1 RHAG RHBDF2 RHCE RHD RINT1 RIPK1 RIT1 RMND1 RMRP RNASEH2A RNASEH2B RNASEH2C RNU4ATAC RNU7-1 RPGRIP1L RRAS RRAS2 RREB1 RTEL1 RTL1 RUNX1 SAA1 SAMD9L SAMHD1 SASH3 SBDS SC5D SCARB2 SCO1 SCO2 SCYL1 SDHD SEC23B SEC24C SEC63 SEMA4D SERPINA1 SF3B1 SGSH SH2B3 SH2D1A SKIC2 SKIC3 SLC17A5 SLC20A2 SLC22A5 SLC25A1 SLC25A13 SLC25A15 SLC25A19 SLC25A20 SLC29A3 SLC2A1 SLC2A2 SLC30A10 SLC34A2 SLC35C1 SLC37A4 SLC38A3 SLC39A4 SLC40A1 SLC4A1 SLC7A7 SLCO2A1 SMAD4 SMPD1 SNX10 SNX14 SOCS1 SOS1 SOS2 SOX10 SP110 SPRED2 SPTA1 SPTB SRP54 SRSF2 STAT1 STAT3 STAT4 STEAP3 STX11 STXBP2 SUCLG1 SUMF1 SURF1 SYK TALDO1 TBX1 TBXAS1 TCF3 TCF4 TCIRG1 TERC TERT TET2 TFE3 TGFB1 THPO TIMMDC1 TINF2 TKFC TKT TLR4 TLR8 TMEM126B TMEM165 TMEM67 TMEM70 TNFRSF11A TNFRSF13B TNFRSF13C TNFRSF1A TNFRSF1B TNFRSF4 TNFSF11 TNFSF12 TNNI3 TNNT2 TOGARAM1 TOM1 TP53 TPI1 TPP2 TRAPPC11 TREX1 TRIM37 TRMU TRNE TRNK TRNL1 TRNN TRNS1 TRNT1 TRNV TRNW TRPV6 TSFM TTC26 TUFM TULP3 TYMS UBAC2 UCP2 UFD1 UMPS UNC13D UQCRB UROD UROS USB1 USP18 USP53 VIPAS39 VPS13A VPS33A VPS33B VPS45 VPS4A WDR1 WDR19 WDR35 WRAP53 WT1 XIAP XK XPR1 XRCC4 XYLT1 YARS1 YARS2 ZAP70 ZFYVE19 ZIC3 ZNF699 ZNFX1

Diseases (755) :ORPHA:31150 OMIM:205400 OMIM:605479 OMIM:601847 OMIM:602347 ORPHA:234 ORPHA:276575 OMIM:616278 OMIM:210250 OMIM:275630 ORPHA:98907 ORPHA:521 OMIM:201450 ORPHA:42 ORPHA:26793 OMIM:201475 ORPHA:134 OMIM:264470 ORPHA:2971 ORPHA:39041 OMIM:102700 OMIM:615688 ORPHA:2136 OMIM:231050 ORPHA:51 OMIM:615010 OMIM:616368 ORPHA:93 OMIM:208400 ORPHA:90308 OMIM:232400 ORPHA:528 OMIM:608594 OMIM:235555 ORPHA:79303 ORPHA:744 OMIM:176920 ORPHA:79085 ORPHA:75563 OMIM:620025 OMIM:611881 OMIM:229600 ORPHA:469 OMIM:608540 OMIM:300884 ORPHA:79326 OMIM:607906 OMIM:608104 ORPHA:79328 OMIM:608776 ORPHA:64 OMIM:203800 OMIM:614979 OMIM:214950 ORPHA:251066 ORPHA:822 OMIM:182900 ORPHA:85408 OMIM:230740 OMIM:608233 OMIM:617050 OMIM:105200 OMIM:207750 ORPHA:412 OMIM:269600 ORPHA:158029 OMIM:207800 OMIM:612291 OMIM:253200 ORPHA:567 ORPHA:333 OMIM:228000 OMIM:207900 OMIM:215700 ORPHA:98850 ORPHA:98849 OMIM:618810 ORPHA:52416 ORPHA:255210 OMIM:300972 OMIM:301045 ORPHA:3473 OMIM:277900 ORPHA:905 OMIM:243300 OMIM:211600 OMIM:604273 ORPHA:231401 ORPHA:100075 ORPHA:67046 ORPHA:79332 OMIM:619232 OMIM:618394 ORPHA:50251 ORPHA:251380 ORPHA:545 OMIM:235200 ORPHA:465508 OMIM:614299 OMIM:115150 ORPHA:1333 OMIM:615924 OMIM:269700 ORPHA:363400 OMIM:253260 ORPHA:797 OMIM:612387 OMIM:617713 OMIM:619423 ORPHA:117 ORPHA:2785 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:648 ORPHA:394 ORPHA:1454 OMIM:616828 OMIM:618268 ORPHA:29073 ORPHA:1572 OMIM:240500 ORPHA:169160 OMIM:615122 ORPHA:2584 ORPHA:3162 OMIM:308230 OMIM:226300 OMIM:618261 OMIM:613496 OMIM:211750 OMIM:224120 OMIM:615631 OMIM:130650 OMIM:602271 OMIM:219700 ORPHA:435651 OMIM:615238 ORPHA:667 OMIM:618541 ORPHA:210110 OMIM:611490 OMIM:607626 ORPHA:59303 OMIM:619813 ORPHA:163681 ORPHA:436271 ORPHA:263508 ORPHA:263501 OMIM:613489 ORPHA:263487 OMIM:614576 ORPHA:79333 OMIM:608779 OMIM:619046 OMIM:619053 OMIM:612714 OMIM:619064 OMIM:121300 OMIM:618892 ORPHA:156 OMIM:255120 ORPHA:228308 ORPHA:228305 OMIM:600649 OMIM:608836 OMIM:614699 OMIM:162830 ORPHA:1775 OMIM:616100 ORPHA:33402 OMIM:219800 OMIM:256540 ORPHA:763 ORPHA:379 OMIM:233690 OMIM:306400 OMIM:618935 OMIM:613812 ORPHA:79302 ORPHA:137675 OMIM:616217 OMIM:617394 ORPHA:84081 OMIM:603554 OMIM:602450 OMIM:602557 ORPHA:93352 OMIM:619573 OMIM:251880 OMIM:617068 ORPHA:35107 OMIM:270400 OMIM:613861 OMIM:613839 OMIM:267000 ORPHA:2849 OMIM:246900 ORPHA:2394 ORPHA:96334 OMIM:616589 ORPHA:811 OMIM:260400 ORPHA:36412 OMIM:619858 OMIM:616433 ORPHA:86309 OMIM:608799 ORPHA:79322 ORPHA:329178 OMIM:617088 ORPHA:731 OMIM:617610 OMIM:614924 OMIM:617941 OMIM:226980 ORPHA:1667 OMIM:611804 ORPHA:288 OMIM:612690 OMIM:133180 ORPHA:90322 ORPHA:90321 ORPHA:90324 OMIM:133540 OMIM:216400 OMIM:231680 ORPHA:83469 ORPHA:508533 ORPHA:882 OMIM:276700 OMIM:615704 OMIM:619013 OMIM:601859 OMIM:614185 ORPHA:348 OMIM:229700 OMIM:619164 OMIM:251900 OMIM:612840 OMIM:614592 ORPHA:313855 ORPHA:75249 OMIM:602079 OMIM:619991 ORPHA:37042 ORPHA:2609 OMIM:230000 ORPHA:349 OMIM:232200 OMIM:612541 ORPHA:308552 OMIM:232300 OMIM:230350 ORPHA:79237 ORPHA:570422 OMIM:253000 ORPHA:79239 OMIM:230400 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 OMIM:231670 ORPHA:33574 OMIM:617913 OMIM:609060 OMIM:619463 ORPHA:79255 OMIM:230500 OMIM:230600 OMIM:253010 OMIM:610199 OMIM:616860 OMIM:619503 ORPHA:3166 OMIM:269921 OMIM:606664 OMIM:252500 ORPHA:576 OMIM:252940 OMIM:153670 ORPHA:373 OMIM:312870 OMIM:614480 OMIM:613470 OMIM:615947 ORPHA:171 OMIM:204000 ORPHA:584 OMIM:253220 ORPHA:5 OMIM:609016 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:613977 OMIM:268800 ORPHA:309155 OMIM:252930 OMIM:602390 OMIM:235700 OMIM:181000 ORPHA:85414 ORPHA:20 OMIM:246450 OMIM:605911 OMIM:614034 ORPHA:324575 OMIM:616026 ORPHA:263455 ORPHA:2796 OMIM:261515 OMIM:607765 ORPHA:79301 ORPHA:96191 OMIM:233600 ORPHA:541423 OMIM:607594 ORPHA:217093 ORPHA:217085 OMIM:309900 OMIM:607014 ORPHA:93473 ORPHA:93476 OMIM:607015 ORPHA:93474 OMIM:615846 OMIM:618963 OMIM:209950 OMIM:218330 OMIM:266920 OMIM:615630 OMIM:301081 OMIM:619437 OMIM:618549 OMIM:612852 OMIM:606367 OMIM:618495 OMIM:300400 ORPHA:276 OMIM:619750 OMIM:608971 ORPHA:169154 ORPHA:2746 ORPHA:508 ORPHA:3452 OMIM:226990 OMIM:613385 ORPHA:228426 OMIM:613011 OMIM:618999 OMIM:133100 ORPHA:71493 ORPHA:729 OMIM:263300 ORPHA:35078 ORPHA:1980 OMIM:613730 OMIM:135500 ORPHA:276580 ORPHA:3202 OMIM:616689 OMIM:619662 OMIM:619433 OMIM:618955 OMIM:613673 ORPHA:397612 OMIM:615637 OMIM:614470 OMIM:620076 OMIM:615438 OMIM:617514 OMIM:215140 ORPHA:779 OMIM:613471 ORPHA:79292 ORPHA:99812 ORPHA:75234 OMIM:278000 ORPHA:75233 ORPHA:435660 OMIM:277380 ORPHA:280365 ORPHA:2348 ORPHA:79084 OMIM:151660 OMIM:248370 ORPHA:77297 OMIM:609628 OMIM:238600 OMIM:614700 ORPHA:2924 OMIM:617809 OMIM:615595 ORPHA:167 OMIM:214500 OMIM:619004 OMIM:619005 OMIM:301031 OMIM:300853 OMIM:248500 ORPHA:309288 ORPHA:309282 OMIM:618443 OMIM:615486 OMIM:609981 OMIM:301068 ORPHA:342 OMIM:249100 ORPHA:2398 OMIM:615673 OMIM:249000 OMIM:251100 OMIM:251110 OMIM:251000 ORPHA:79312 ORPHA:289916 OMIM:606056 ORPHA:79330 OMIM:614741 OMIM:602579 ORPHA:79319 OMIM:617441 OMIM:256810 OMIM:614582 OMIM:618958 OMIM:617872 ORPHA:14 OMIM:619127 OMIM:260920 ORPHA:343 ORPHA:29 OMIM:610377 OMIM:115197 ORPHA:33226 OMIM:619424 OMIM:619868 ORPHA:79279 ORPHA:79281 OMIM:252920 ORPHA:927 OMIM:139090 ORPHA:721 OMIM:233700 OMIM:233710 OMIM:618982 OMIM:618234 OMIM:252010 OMIM:618224 OMIM:615415 ORPHA:93400 ORPHA:93399 OMIM:256550 ORPHA:812 ORPHA:404454 OMIM:615273 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:619695 OMIM:618042 OMIM:251290 OMIM:259720 ORPHA:664 OMIM:301056 OMIM:266150 OMIM:606054 ORPHA:35 OMIM:261680 OMIM:607685 OMIM:170100 ORPHA:742 ORPHA:772 OMIM:214100 OMIM:601539 ORPHA:912 OMIM:614870 OMIM:614859 OMIM:266510 OMIM:614887 OMIM:614876 OMIM:614866 OMIM:614872 OMIM:614882 OMIM:214110 OMIM:614862 OMIM:614863 ORPHA:773 OMIM:614921 ORPHA:264580 OMIM:306000 ORPHA:79240 OMIM:261750 OMIM:613027 OMIM:194380 OMIM:616843 OMIM:300868 OMIM:301072 OMIM:610293 OMIM:618143 OMIM:618440 OMIM:612918 OMIM:615513 OMIM:619802 OMIM:616005 OMIM:613095 ORPHA:53035 OMIM:263200 ORPHA:766 OMIM:266200 OMIM:618107 OMIM:212065 OMIM:613179 OMIM:610717 ORPHA:98908 ORPHA:565612 OMIM:615381 OMIM:203700 OMIM:618528 ORPHA:79083 OMIM:619383 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:456312 OMIM:616263 OMIM:618342 ORPHA:369 OMIM:232700 ORPHA:79477 OMIM:607624 OMIM:618986 ORPHA:231154 ORPHA:331206 OMIM:618534 OMIM:615895 OMIM:274000 OMIM:619652 OMIM:612015 ORPHA:244310 OMIM:185000 ORPHA:3203 ORPHA:71275 ORPHA:2198 OMIM:619462 OMIM:618641 OMIM:618852 OMIM:614922 ORPHA:175 OMIM:610333 OMIM:610329 OMIM:616651 ORPHA:353298 OMIM:619487 ORPHA:85445 ORPHA:2585 OMIM:301082 OMIM:607330 ORPHA:46059 OMIM:619048 OMIM:604377 ORPHA:466794 OMIM:616719 OMIM:619167 OMIM:224100 OMIM:617004 ORPHA:60 OMIM:613490 ORPHA:75564 OMIM:252900 OMIM:308240 ORPHA:84064 OMIM:614602 OMIM:222470 OMIM:269920 OMIM:212140 ORPHA:158 OMIM:615182 ORPHA:247585 ORPHA:247598 OMIM:238970 ORPHA:415 ORPHA:99742 OMIM:607196 OMIM:212138 ORPHA:159 ORPHA:168569 OMIM:602782 OMIM:612126 ORPHA:168577 OMIM:608885 ORPHA:2088 ORPHA:309854 OMIM:613280 ORPHA:60025 ORPHA:99843 OMIM:619525 ORPHA:79259 OMIM:232220 OMIM:232240 OMIM:619881 OMIM:201100 OMIM:606069 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 ORPHA:17 OMIM:272200 ORPHA:585 OMIM:220110 OMIM:619381 OMIM:606003 ORPHA:101028 OMIM:188400 ORPHA:1802 OMIM:619824 OMIM:259700 OMIM:619126 OMIM:301066 ORPHA:1328 OMIM:618805 ORPHA:488618 OMIM:301078 OMIM:614727 OMIM:216360 OMIM:607361 ORPHA:1194 OMIM:612301 OMIM:142680 ORPHA:32960 OMIM:615593 OMIM:259710 OMIM:619185 OMIM:615512 ORPHA:444463 OMIM:619220 OMIM:615356 ORPHA:369840 OMIM:225750 ORPHA:2576 OMIM:253250 OMIM:613070 ORPHA:254864 OMIM:616084 OMIM:610505 OMIM:619534 OMIM:610678 OMIM:619902 ORPHA:276556 ORPHA:30 OMIM:608898 OMIM:615158 ORPHA:95159 OMIM:263700 OMIM:604173 OMIM:617397 OMIM:619658 OMIM:613404 ORPHA:2388 ORPHA:505248 OMIM:617303 OMIM:620010 OMIM:615285 OMIM:619273 OMIM:150550 OMIM:614376 OMIM:613610 OMIM:300635 OMIM:300842 ORPHA:370930 OMIM:619418 OMIM:613561 ORPHA:911 OMIM:269840 OMIM:619849 OMIM:306955 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.