Human Phenotype Ontology 
Grandparent Node:
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Abnormality of abdomen morphology (HP:0001438)help
Parent Node:
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Abnormal liver morphology (HP:0410042)help
Parent Node:
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Visceromegaly (HP:0003271)help
..Starting node
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Hepatomegaly (HP:0002240)help
Term ID: 2240
Name: Hepatomegaly
Synonym: Enlarged liver
Definition: Abnormally increased size of the liver.
Comments:
Reference: HP:0002240
Genes and Diseases:
 
       Child Nodes:
........expandFluctuating hepatomegaly (HP:0006564) help

 Sister Nodes: 
..expandHepatosplenomegaly (HP:0001433) help
..expandSplenomegaly (HP:0001744) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002240HP:0002240Hepatomegaly0 CL E G H105259599130650Beckwith-Wiedemann syndrome130650C0004903OMIM1280
HP:0002240HP:0002240Hepatomegaly0A2ML1 CL E G H144568648ORPHA12149223336610627
HP:0002240HP:0002240Hepatomegaly0ABCA1 CL E G H19205400Tangier disease205400C0039292OMIM124035229600046
HP:0002240HP:0002240Hepatomegaly0ABCB11 CL E G H8647605479Benign recurrent intrahepatic cholestasis 2605479C2608083OMIM133146042603201
HP:0002240HP:0002240Hepatomegaly0ABCB11 CL E G H8647601847Progressive familial intrahepatic cholestasis 2601847C3489789OMIM133146042603201
HP:0002240HP:0002240Hepatomegaly0ABCB4 CL E G H5244602347Progressive familial intrahepatic cholestasis 3602347C1865643OMIM124433445171060
HP:0002240HP:0002240Hepatomegaly0ABCC8 CL E G H6833276575ORPHA166160259600509
HP:0002240HP:0002240Hepatomegaly0ABCD3 CL E G H5825616278Bile acid synthesis defect, congenital, 5616278C4225390OMIM172667170995
HP:0002240HP:0002240Hepatomegaly0ABHD5 CL E G H5109998907ORPHA13915521396604780
HP:0002240HP:0002240Hepatomegaly0ABHD5 CL E G H51099275630Triglyceride storage disease with ichthyosis275630C0268238OMIM13915521396604780
HP:0002240HP:0002240Hepatomegaly0ACADL CL E G H3399900ORPHA123388609576
HP:0002240HP:0002240Hepatomegaly0ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM117138989607008
HP:0002240HP:0002240Hepatomegaly0ACADVL CL E G H37201475Very long chain acyl-CoA dehydrogenase deficiency201475C3887523OMIM128376792609575
HP:0002240HP:0002240Hepatomegaly0ACOX1 CL E G H512971ORPHA126257119609751
HP:0002240HP:0002240Hepatomegaly0ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM126257119609751
HP:0002240HP:0002240Hepatomegaly0ADA CL E G H10039041ORPHA196215186608958
HP:0002240HP:0002240Hepatomegaly0ADA CL E G H100102700Severe combined immunodeficiency due to ADA deficiency102700C1863236OMIM196215186608958
HP:0002240HP:0002240Hepatomegaly0ADAMTSL2 CL E G H9719231050Geleophysic dysplasia 1231050C3278147OMIM12821014631612277
HP:0002240HP:0002240Hepatomegaly0AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM138239318613228
HP:0002240HP:0002240Hepatomegaly0AGL CL E G H178232400Glycogen storage disease type III232400C0017922OMIM1248858321610860
HP:0002240HP:0002240Hepatomegaly0AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA143189325603100
HP:0002240HP:0002240Hepatomegaly0AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM143189325603100
HP:0002240HP:0002240Hepatomegaly0AKR1D1 CL E G H671879303ORPHA115179388604741
HP:0002240HP:0002240Hepatomegaly0AKR1D1 CL E G H6718235555Bile acid synthesis defect, congenital, 2235555C1856127OMIM115179388604741
HP:0002240HP:0002240Hepatomegaly0AKT2 CL E G H20879085ORPHA1746392164731
HP:0002240HP:0002240Hepatomegaly0ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM167210417612724
HP:0002240HP:0002240Hepatomegaly0ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM14416818294605907
HP:0002240HP:0002240Hepatomegaly0ALG13 CL E G H79868300884Epileptic encephalopathy, early infantile, 36300884C3550904OMIM11446330881300776
HP:0002240HP:0002240Hepatomegaly0ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM1515323159607905
HP:0002240HP:0002240Hepatomegaly0ALG8 CL E G H79053608104Congenital disorder of glycosylation type 1H608104C2931002OMIM1179623161608103
HP:0002240HP:0002240Hepatomegaly0ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM13161745428606844
HP:0002240HP:0002240Hepatomegaly0AMACR CL E G H23600214950Bile acid synthesis defect, congenital, 4214950C1858328OMIM114147451604489
HP:0002240HP:0002240Hepatomegaly0AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM135238566603401
HP:0002240HP:0002240Hepatomegaly0AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1490568607246
HP:0002240HP:0002240Hepatomegaly0APOA1 CL E G H335105200Familial visceral amyloidosis, Ostertag type105200C0268389OMIM17776600107680
HP:0002240HP:0002240Hepatomegaly0APOC2 CL E G H344207750Apolipoprotein C2 deficiency207750C1720779OMIM12445609608083
HP:0002240HP:0002240Hepatomegaly0APOE CL E G H348158029ORPHA16462613107741
HP:0002240HP:0002240Hepatomegaly0APOE CL E G H348412ORPHA16462613107741
HP:0002240HP:0002240Hepatomegaly0APOPT1 CL E G H84334436271ORPHA19320492616003
HP:0002240HP:0002240Hepatomegaly0APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM19320492616003
HP:0002240HP:0002240Hepatomegaly0ARSB CL E G H411253200Mucopolysaccharidosis type VI253200C0026709OMIM1207446714611542
HP:0002240HP:0002240Hepatomegaly0ASAH1 CL E G H427333ORPHA171306735613468
HP:0002240HP:0002240Hepatomegaly0ASAH1 CL E G H427228000Farber disease228000C0268255OMIM171306735613468
HP:0002240HP:0002240Hepatomegaly0ASL CL E G H435207900Argininosuccinate lyase deficiency207900C0268547OMIM1169264746608310
HP:0002240HP:0002240Hepatomegaly0ASS1 CL E G H445215700Citrullinemia type I215700C0175683OMIM1157323758603470
HP:0002240HP:0002240Hepatomegaly0ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM15233868300197
HP:0002240HP:0002240Hepatomegaly0ATP7B CL E G H540905ORPHA1938958870606882
HP:0002240HP:0002240Hepatomegaly0ATP7B CL E G H540277900Wilson disease277900C0019202OMIM1938958870606882
HP:0002240HP:0002240Hepatomegaly0ATP8B1 CL E G H5205243300Cholestasis, benign recurrent intrahepatic 1243300C1855731OMIM11403613706602397
HP:0002240HP:0002240Hepatomegaly0ATP8B1 CL E G H5205211600Progressive intrahepatic cholestasis211600C0268312OMIM11403613706602397
HP:0002240HP:0002240Hepatomegaly0ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM1218718802608918
HP:0002240HP:0002240Hepatomegaly0B2M CL E G H567105200Familial visceral amyloidosis, Ostertag type105200C0268389OMIM1424914109700
HP:0002240HP:0002240Hepatomegaly0BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM164224415613183
HP:0002240HP:0002240Hepatomegaly0BRAF CL E G H673648ORPHA1684901097164757
HP:0002240HP:0002240Hepatomegaly0BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA15026315832606158
HP:0002240HP:0002240Hepatomegaly0BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM15026315832606158
HP:0002240HP:0002240Hepatomegaly0BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM12483711122609019
HP:0002240HP:0002240Hepatomegaly0C15orf41 CL E G H84529615631ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib615631C3810185OMIM1626929615626
HP:0002240HP:0002240Hepatomegaly0CA2 CL E G H7602785ORPHA131761373611492
HP:0002240HP:0002240Hepatomegaly0CASP10 CL E G H843603909Autoimmune lymphoproliferative syndrome, type 2A603909C1858968OMIM192361500601762
HP:0002240HP:0002240Hepatomegaly0CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA14109551514601199
HP:0002240HP:0002240Hepatomegaly0CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM14109551514601199
HP:0002240HP:0002240Hepatomegaly0CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA113621527601047
HP:0002240HP:0002240Hepatomegaly0CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA115949688603198
HP:0002240HP:0002240Hepatomegaly0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM115949688603198
HP:0002240HP:0002240Hepatomegaly0CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM19658429253612013
HP:0002240HP:0002240Hepatomegaly0CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA19658429253612013
HP:0002240HP:0002240Hepatomegaly0CCDC115 CL E G H84317616828CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo616828C4225191OMIM154828178613734
HP:0002240HP:0002240Hepatomegaly0CD19 CL E G H930240500Common variable immunodeficiency 2240500C3150354OMIM1101961633107265
HP:0002240HP:0002240Hepatomegaly0CD27 CL E G H939615122Lymphoproliferative syndrome 2615122C3554540OMIM189611922186711
HP:0002240HP:0002240Hepatomegaly0CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA1271653186760
HP:0002240HP:0002240Hepatomegaly0CD40LG CL E G H959308230Immunodeficiency with hyper IgM type 1308230C0398689OMIM124127811935300386
HP:0002240HP:0002240Hepatomegaly0CD55 CL E G H1604226300Protein-losing enteropathy226300C0033680OMIM125322665125240
HP:0002240HP:0002240Hepatomegaly0CD96 CL E G H10225211750C syndrome211750C0796095OMIM134716892606037
HP:0002240HP:0002240Hepatomegaly0CDKN1C CL E G H1028130650Beckwith-Wiedemann syndrome130650C0004903OMIM1814711786600856
HP:0002240HP:0002240Hepatomegaly0CHD7 CL E G H5563639041ORPHA1884126620626608892
HP:0002240HP:0002240Hepatomegaly0CIDEC CL E G H63924435651ORPHA116224229612120
HP:0002240HP:0002240Hepatomegaly0CIDEC CL E G H63924615238Familial partial lipodystrophy 5615238C3808940OMIM116224229612120
HP:0002240HP:0002240Hepatomegaly0CLCN7 CL E G H1186667ORPHA11002682025602727
HP:0002240HP:0002240Hepatomegaly0CLDN1 CL E G H907659303ORPHA14732032603718
HP:0002240HP:0002240Hepatomegaly0CLDN1 CL E G H9076607626Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis607626C1843355OMIM14732032603718
HP:0002240HP:0002240Hepatomegaly0COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM171925716615623
HP:0002240HP:0002240Hepatomegaly0COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM1515918622606978
HP:0002240HP:0002240Hepatomegaly0COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1132082260602125
HP:0002240HP:0002240Hepatomegaly0COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111428216614478
HP:0002240HP:0002240Hepatomegaly0COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1112726970614698
HP:0002240HP:0002240Hepatomegaly0COX4I2 CL E G H84701612714Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis612714C2675184OMIM113316232607976
HP:0002240HP:0002240Hepatomegaly0COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13342280124089
HP:0002240HP:0002240Hepatomegaly0COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM11122294123870
HP:0002240HP:0002240Hepatomegaly0CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM1731362321612732
HP:0002240HP:0002240Hepatomegaly0CPT1A CL E G H1374156ORPHA1532392328600528
HP:0002240HP:0002240Hepatomegaly0CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM1532392328600528
HP:0002240HP:0002240Hepatomegaly0CPT2 CL E G H1376228308ORPHA11133662330600650
HP:0002240HP:0002240Hepatomegaly0CPT2 CL E G H1376228305ORPHA11133662330600650
HP:0002240HP:0002240Hepatomegaly0CPT2 CL E G H1376600649Carnitine palmitoyltransferase II deficiency, infantile600649C1833511OMIM11133662330600650
HP:0002240HP:0002240Hepatomegaly0CPT2 CL E G H1376608836Carnitine palmitoyltransferase II deficiency, lethal neonatal608836C1833518OMIM11133662330600650
HP:0002240HP:0002240Hepatomegaly0CR2 CL E G H1380240500Common variable immunodeficiency 2240500C3150354OMIM1192332336120650
HP:0002240HP:0002240Hepatomegaly0CTLA4 CL E G H1493616100Autoimmune lymphoproliferatiVe syndrome, type V616100C4015214OMIM1721142505123890
HP:0002240HP:0002240Hepatomegaly0CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA1721142505123890
HP:0002240HP:0002240Hepatomegaly0CTNNB1 CL E G H149933402ORPHA1541802514116806
HP:0002240HP:0002240Hepatomegaly0CTNS CL E G H1497219800Nephropathic cystinosis219800C0010690OMIM11604182518606272
HP:0002240HP:0002240Hepatomegaly0CYBA CL E G H1535379ORPHA1761792577608508
HP:0002240HP:0002240Hepatomegaly0CYBA CL E G H1535233690Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative233690C1856255OMIM1761792577608508
HP:0002240HP:0002240Hepatomegaly0CYBB CL E G H1536379ORPHA17823762578300481
HP:0002240HP:0002240Hepatomegaly0CYBB CL E G H1536306400Chronic granulomatous disease, X-linked306400C1844376OMIM17823762578300481
HP:0002240HP:0002240Hepatomegaly0CYBC1 CL E G H79415379ORPHA1133286720
HP:0002240HP:0002240Hepatomegaly0CYP7B1 CL E G H942079302ORPHA1631992652603711
HP:0002240HP:0002240Hepatomegaly0CYP7B1 CL E G H9420613812Bile acid synthesis defect, congenital, 3613812C3151147OMIM1631992652603711
HP:0002240HP:0002240Hepatomegaly0DCDC2 CL E G H51473616217Nephronophthisis 19616217C4015542OMIM11110618141605755
HP:0002240HP:0002240Hepatomegaly0DCDC2 CL E G H51473617394Sclerosing cholangitis, neonatal617394C4479344OMIM11110618141605755
HP:0002240HP:0002240Hepatomegaly0DCLRE1C CL E G H6442139041ORPHA19131817642605988
HP:0002240HP:0002240Hepatomegaly0DCLRE1C CL E G H64421603554Histiocytic medullary reticulosis603554C1801959OMIM19131817642605988
HP:0002240HP:0002240Hepatomegaly0DDRGK1 CL E G H6599293352ORPHA114216110616177
HP:0002240HP:0002240Hepatomegaly0DDRGK1 CL E G H65992602557Spondyloepimetaphyseal dysplasia Shohat type602557C1865185OMIM114216110616177
HP:0002240HP:0002240Hepatomegaly0DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM1641222858601465
HP:0002240HP:0002240Hepatomegaly0DGUOK CL E G H1716617068Portal hypertension, noncirrhotic617068C4310735OMIM1641222858601465
HP:0002240HP:0002240Hepatomegaly0DHDDS CL E G H79947613861Retinitis pigmentosa 59613861C3151227OMIM1812220603608172
HP:0002240HP:0002240Hepatomegaly0DHFR CL E G H1719613839Megaloblastic anemia due to dihydrofolate reductase deficiency613839C3151205OMIM192032861126060
HP:0002240HP:0002240Hepatomegaly0DIS3L2 CL E G H1295632849ORPHA11488128648614184
HP:0002240HP:0002240Hepatomegaly0DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA1232022898238331
HP:0002240HP:0002240Hepatomegaly0DNAJC21 CL E G H134218260400Shwachman syndrome260400C0272170OMIM1116027030617048
HP:0002240HP:0002240Hepatomegaly0DOLK CL E G H2284591131ORPHA11121523406610746
HP:0002240HP:0002240Hepatomegaly0DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM191203005603503
HP:0002240HP:0002240Hepatomegaly0DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM11417324595617083
HP:0002240HP:0002240Hepatomegaly0EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA1811253255604032
HP:0002240HP:0002240Hepatomegaly0EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM1811253255604032
HP:0002240HP:0002240Hepatomegaly0ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM11404993438609413
HP:0002240HP:0002240Hepatomegaly0ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM1701993439609412
HP:0002240HP:0002240Hepatomegaly0ETFA CL E G H2108231680Glutaric aciduria, type 2231680C0268596OMIM1301243481608053
HP:0002240HP:0002240Hepatomegaly0ETFB CL E G H2109231680Glutaric aciduria, type 2231680C0268596OMIM1151063482130410
HP:0002240HP:0002240Hepatomegaly0ETFDH CL E G H2110231680Glutaric aciduria, type 2231680C0268596OMIM11912563483231675
HP:0002240HP:0002240Hepatomegaly0EWSR1 CL E G H213083469ORPHA18433508133450
HP:0002240HP:0002240Hepatomegaly0F5 CL E G H2153131Myeloid sarcomaORPHA11693293542612309
HP:0002240HP:0002240Hepatomegaly0FAH CL E G H2184276700Tyrosinemia type I276700C0268490OMIM11022633579613871
HP:0002240HP:0002240Hepatomegaly0FAM111B CL E G H374393615704Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis615704C3810325OMIM171724200615584
HP:0002240HP:0002240Hepatomegaly0FAS CL E G H355601859Autoimmune lymphoproliferative syndrome601859C1328840OMIM114216911920134637
HP:0002240HP:0002240Hepatomegaly0FASLG CL E G H356601859Autoimmune lymphoproliferative syndrome601859C1328840OMIM1119811936134638
HP:0002240HP:0002240Hepatomegaly0FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1323529160612322
HP:0002240HP:0002240Hepatomegaly0FBN1 CL E G H2200614185Geleophysic dysplasia 2614185C3280054OMIM1272142843603134797
HP:0002240HP:0002240Hepatomegaly0FBP1 CL E G H2203229700Fructose-biphosphatase deficiency229700C0016756OMIM1481483606611570
HP:0002240HP:0002240Hepatomegaly0FDX2 CL E G H112812251900Mitochondrial myopathy251900C0162670OMIM123030546614585
HP:0002240HP:0002240Hepatomegaly0FERMT3 CL E G H83706612840Leukocyte adhesion deficiency, type III612840C2748536OMIM11413723151607901
HP:0002240HP:0002240Hepatomegaly0FGA CL E G H2243105200Familial visceral amyloidosis, Ostertag type105200C0268389OMIM11551103661134820
HP:0002240HP:0002240Hepatomegaly0FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA12283796164810
HP:0002240HP:0002240Hepatomegaly0FUCA1 CL E G H2517230000Fucosidosis230000C0016788OMIM1341094006612280
HP:0002240HP:0002240Hepatomegaly0FUCA1 CL E G H2517349Neuroaxonal dystrophy renal tubular acidosisORPHA1341094006612280
HP:0002240HP:0002240Hepatomegaly0G6PC CL E G H2538232200Glycogen storage disease type 1A232200C2919796OMIM11184056613742
HP:0002240HP:0002240Hepatomegaly0G6PC3 CL E G H92579612541Severe congenital neutropenia 4, autosomal recessive612541C2675526OMIM14011924861611045
HP:0002240HP:0002240Hepatomegaly0GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM158211854065606800
HP:0002240HP:0002240Hepatomegaly0GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM1271124116606953
HP:0002240HP:0002240Hepatomegaly0GALNS CL E G H2588253000Mucopolysaccharidosis, MPS-IV-A253000C0086651OMIM13443684122612222
HP:0002240HP:0002240Hepatomegaly0GALT CL E G H2592230400Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase230400C0268151OMIM13375554135606999
HP:0002240HP:0002240Hepatomegaly0GATA2 CL E G H26243226Lethal chondrodysplasia Seller typeORPHA11515164171137295
HP:0002240HP:0002240Hepatomegaly0GBA CL E G H262985212ORPHA14942064177606463
HP:0002240HP:0002240Hepatomegaly0GBA CL E G H262977261ORPHA14942064177606463
HP:0002240HP:0002240Hepatomegaly0GBA CL E G H262977259ORPHA14942064177606463
HP:0002240HP:0002240Hepatomegaly0GBA CL E G H262977260ORPHA14942064177606463
HP:0002240HP:0002240Hepatomegaly0GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14942064177606463
HP:0002240HP:0002240Hepatomegaly0GBA CL E G H2629231005Gaucher disease type 3C231005C1856476OMIM14942064177606463
HP:0002240HP:0002240Hepatomegaly0GBA CL E G H2629608013Gaucher disease, perinatal lethal608013C1842704OMIM14942064177606463
HP:0002240HP:0002240Hepatomegaly0GBA CL E G H2629230800Gaucher's disease, type 1230800C1961835OMIM14942064177606463
HP:0002240HP:0002240Hepatomegaly0GBA CL E G H2629231000Subacute neuronopathic Gaucher's disease231000C0268251OMIM14942064177606463
HP:0002240HP:0002240Hepatomegaly0GCDH CL E G H2639231670Glutaric aciduria, type 1231670C0268595OMIM12443374189608801
HP:0002240HP:0002240Hepatomegaly0GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM11921813780606639
HP:0002240HP:0002240Hepatomegaly0GLB1 CL E G H2720230500Infantile GM1 gangliosidosis230500C0268271OMIM12313084298611458
HP:0002240HP:0002240Hepatomegaly0GLB1 CL E G H2720253010Mucopolysaccharidosis, MPS-IV-B253010C0086652OMIM12313084298611458
HP:0002240HP:0002240Hepatomegaly0GLIS3 CL E G H169792610199Diabetes mellitus, neonatal, with congenital hypothyroidism610199C1857775OMIM11946328510610192
HP:0002240HP:0002240Hepatomegaly0GLRX5 CL E G H51218616860Sideroblastic anemia 3, pyridoxine-refractory616860C4225155OMIM164720134609588
HP:0002240HP:0002240Hepatomegaly0GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA122247523657603824
HP:0002240HP:0002240Hepatomegaly0GNE CL E G H10020269921Sialuria269921C0342853OMIM122247523657603824
HP:0002240HP:0002240Hepatomegaly0GNMT CL E G H27232606664Glycine N-methyltransferase deficiency606664C1847720OMIM16244415606628
HP:0002240HP:0002240Hepatomegaly0GNPTAB CL E G H79158576ORPHA118846229670607840
HP:0002240HP:0002240Hepatomegaly0GNPTAB CL E G H79158252500I cell disease252500C2673377OMIM118846229670607840
HP:0002240HP:0002240Hepatomegaly0GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM1251464422607664
HP:0002240HP:0002240Hepatomegaly0GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA1985264451300037
HP:0002240HP:0002240Hepatomegaly0GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM1985264451300037
HP:0002240HP:0002240Hepatomegaly0GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA151964452300168
HP:0002240HP:0002240Hepatomegaly0GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM151964452300168
HP:0002240HP:0002240Hepatomegaly0GPD1 CL E G H2819614480Hypertriglyceridemia, transient infantile614480C3280953OMIM110284455138420
HP:0002240HP:0002240Hepatomegaly0GPIHBP1 CL E G H338328615947Hyperlipoproteinemia, type ID615947C4014767OMIM1347524945612757
HP:0002240HP:0002240Hepatomegaly0GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA121124492602646
HP:0002240HP:0002240Hepatomegaly0GUCY2D CL E G H3000204000Leber congenital amaurosis 1204000C2931258OMIM12433884689600179
HP:0002240HP:0002240Hepatomegaly0GUSB CL E G H2990253220Mucopolysaccharidosis type VII253220C0085132OMIM1661574696611499
HP:0002240HP:0002240Hepatomegaly0H19 CL E G H283120130650Beckwith-Wiedemann syndrome130650C0004903OMIM138494713103280
HP:0002240HP:0002240Hepatomegaly0HADHA CL E G H30305ORPHA1713024801600890
HP:0002240HP:0002240Hepatomegaly0HADHA CL E G H3030609016Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency609016CN074230OMIM1713024801600890
HP:0002240HP:0002240Hepatomegaly0HAMP CL E G H57817613313Hemochromatosis type 2B613313C1865616OMIM1164215598606464
HP:0002240HP:0002240Hepatomegaly0HBA1 CL E G H3039163596ORPHA12173464823141800
HP:0002240HP:0002240Hepatomegaly0HBA1 CL E G H3039613978Hemoglobin H613978C3161174OMIM12173464823141800
HP:0002240HP:0002240Hepatomegaly0HBA2 CL E G H3040163596ORPHA12962744824141850
HP:0002240HP:0002240Hepatomegaly0HBA2 CL E G H3040613978Hemoglobin H613978C3161174OMIM12962744824141850
HP:0002240HP:0002240Hepatomegaly0HBB CL E G H3043231222ORPHA187110094827141900
HP:0002240HP:0002240Hepatomegaly0HBB CL E G H3043231214ORPHA187110094827141900
HP:0002240HP:0002240Hepatomegaly0HBB CL E G H304346532ORPHA187110094827141900
HP:0002240HP:0002240Hepatomegaly0HBB CL E G H3043603903Hb SS disease603903C0002895OMIM187110094827141900
HP:0002240HP:0002240Hepatomegaly0HBG1 CL E G H304746532ORPHA144564831142200
HP:0002240HP:0002240Hepatomegaly0HBG2 CL E G H304846532ORPHA149724832142250
HP:0002240HP:0002240Hepatomegaly0HFE CL E G H3077465508ORPHA1611034886613609
HP:0002240HP:0002240Hepatomegaly0HFE CL E G H3077235200Hemochromatosis type 1235200C3469186OMIM1611034886613609
HP:0002240HP:0002240Hepatomegaly0HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM17237126527610453
HP:0002240HP:0002240Hepatomegaly0HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM1601365005613898
HP:0002240HP:0002240Hepatomegaly0HMGCS2 CL E G H3158605911mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency605911C2751532OMIM1331275008600234
HP:0002240HP:0002240Hepatomegaly0HMOX1 CL E G H3162614034Heme oxygenase 1 deficiency614034C1841651OMIM114325013141250
HP:0002240HP:0002240Hepatomegaly0HNF1A CL E G H6927324575ORPHA153934311621142410
HP:0002240HP:0002240Hepatomegaly0HNF4A CL E G H3172263455Hyperinsulinism due to HNF4A deficiencyCN202290ORPHA11572835024600281
HP:0002240HP:0002240Hepatomegaly0HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM11013055213601860
HP:0002240HP:0002240Hepatomegaly0HSD3B7 CL E G H8027079301ORPHA1269618324607764
HP:0002240HP:0002240Hepatomegaly0HSD3B7 CL E G H80270607765Bile acid synthesis defect, congenital, 1607765C1843116OMIM1269618324607764
HP:0002240HP:0002240Hepatomegaly0HYMAI CL E G H5706196191ORPHA1155326606546
HP:0002240HP:0002240Hepatomegaly0ICOS CL E G H29851607594Common variable immunodeficiency 1607594C3149378OMIM161085351604558
HP:0002240HP:0002240Hepatomegaly0ICOS CL E G H29851240500Common variable immunodeficiency 2240500C3150354OMIM161085351604558
HP:0002240HP:0002240Hepatomegaly0IDS CL E G H3423309900Mucopolysaccharidosis, MPS-II309900C0026705OMIM16404245389300823
HP:0002240HP:0002240Hepatomegaly0IDUA CL E G H342593473ORPHA12916225391252800
HP:0002240HP:0002240Hepatomegaly0IDUA CL E G H342593476ORPHA12916225391252800
HP:0002240HP:0002240Hepatomegaly0IDUA CL E G H342593474ORPHA12916225391252800
HP:0002240HP:0002240Hepatomegaly0IDUA CL E G H3425607014Dysostosis multiplex607014C0086795OMIM12916225391252800
HP:0002240HP:0002240Hepatomegaly0IDUA CL E G H3425607015Mucopolysaccharidosis, MPS-I-H/S607015C0086431OMIM12916225391252800
HP:0002240HP:0002240Hepatomegaly0IFT122 CL E G H55764218330Cranioectodermal dysplasia 1218330C0432235OMIM12319913556606045
HP:0002240HP:0002240Hepatomegaly0IFT140 CL E G H9742266920Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia266920C1849437OMIM17253029077614620
HP:0002240HP:0002240Hepatomegaly0IFT172 CL E G H26160615630Short-rib thoracic dysplasia 10 with or without polydactyly615630C3810175OMIM12726930391607386
HP:0002240HP:0002240Hepatomegaly0IGF2 CL E G H3481130650Beckwith-Wiedemann syndrome130650C0004903OMIM111675466147470
HP:0002240HP:0002240Hepatomegaly0IL1RN CL E G H3557612852Osteomyelitis, sterile multifocal, with periostitis and pustulosis612852C2748507OMIM1181016000147679
HP:0002240HP:0002240Hepatomegaly0IL2RA CL E G H3559606367Interleukin 2 receptor, alpha, deficiency of606367C1853392OMIM1191766008147730
HP:0002240HP:0002240Hepatomegaly0IL2RG CL E G H356139041ORPHA12502716010308380
HP:0002240HP:0002240Hepatomegaly0IL2RG CL E G H3561300400X-linked severe combined immunodeficiency300400C1279481OMIM12502716010308380
HP:0002240HP:0002240Hepatomegaly0IL7R CL E G H357539041ORPHA1592406024146661
HP:0002240HP:0002240Hepatomegaly0IL7R CL E G H3575608971Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive608971C1837028OMIM1592406024146661
HP:0002240HP:0002240Hepatomegaly0INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA15432521474613037
HP:0002240HP:0002240Hepatomegaly0ITCH CL E G H83737613385Autoimmune disease, syndromic multisystem613385C3150649OMIM129013890606409
HP:0002240HP:0002240Hepatomegaly0ITK CL E G H3702613011Lymphoproliferative syndrome 1613011C3552634OMIM1141796171186973
HP:0002240HP:0002240Hepatomegaly0JAK2 CL E G H3717729Anti-factor 8 autoimmunizationORPHA1262286192147796
HP:0002240HP:0002240Hepatomegaly0JAK2 CL E G H3717131Myeloid sarcomaORPHA1262286192147796
HP:0002240HP:0002240Hepatomegaly0JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM1411615532606871
HP:0002240HP:0002240Hepatomegaly0KAT6B CL E G H23522648ORPHA17622817582605880
HP:0002240HP:0002240Hepatomegaly0KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM113916250603305
HP:0002240HP:0002240Hepatomegaly0KCNJ11 CL E G H3767276580ORPHA11872276257600937
HP:0002240HP:0002240Hepatomegaly0KCNN4 CL E G H3783616689Dehydrated hereditary stomatocytosis 2616689C4225242OMIM14186293602754
HP:0002240HP:0002240Hepatomegaly0KCNQ1 CL E G H3784130650Beckwith-Wiedemann syndrome130650C0004903OMIM164312436294607542
HP:0002240HP:0002240Hepatomegaly0KCNQ1OT1 CL E G H10984130650Beckwith-Wiedemann syndrome130650C0004903OMIM18966295604115
HP:0002240HP:0002240Hepatomegaly0KLF1 CL E G H1066146532ORPHA1105766345600599
HP:0002240HP:0002240Hepatomegaly0KLF1 CL E G H10661613673Congenital dyserythropoietic anemia, type IV613673C3150926OMIM1105766345600599
HP:0002240HP:0002240Hepatomegaly0KRAS CL E G H3845648ORPHA1452746407190070
HP:0002240HP:0002240Hepatomegaly0KRAS CL E G H3845614470RAS-associated autoimmune leukoproliferative disorder614470C2674723OMIM1452746407190070
HP:0002240HP:0002240Hepatomegaly0LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM176512151350
HP:0002240HP:0002240Hepatomegaly0LBR CL E G H3930779Arthrogryposis due to muscular dystrophyORPHA1281726518600024
HP:0002240HP:0002240Hepatomegaly0LBR CL E G H3930215140Greenberg dysplasia215140C2931048OMIM1281726518600024
HP:0002240HP:0002240Hepatomegaly0LBR CL E G H3930613471Reynolds syndrome613471C0748397OMIM1281726518600024
HP:0002240HP:0002240Hepatomegaly0LIG4 CL E G H398139041ORPHA1403176601601837
HP:0002240HP:0002240Hepatomegaly0LIPA CL E G H398875233ORPHA1962466617613497
HP:0002240HP:0002240Hepatomegaly0LIPA CL E G H398875234Cholesteryl ester storage diseaseC0008384ORPHA1962466617613497
HP:0002240HP:0002240Hepatomegaly0LIPA CL E G H3988278000Lysosomal acid lipase deficiency278000C0043208OMIM1962466617613497
HP:0002240HP:0002240Hepatomegaly0LIPE CL E G H3991435660ORPHA18496621151750
HP:0002240HP:0002240Hepatomegaly0LMNA CL E G H400079084ORPHA157411526636150330
HP:0002240HP:0002240Hepatomegaly0LMNA CL E G H4000280365ORPHA157411526636150330
HP:0002240HP:0002240Hepatomegaly0LMNA CL E G H40002348ORPHA157411526636150330
HP:0002240HP:0002240Hepatomegaly0LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM157411526636150330
HP:0002240HP:0002240Hepatomegaly0LPIN2 CL E G H966377297ORPHA11650914450605519
HP:0002240HP:0002240Hepatomegaly0LRP5 CL E G H40412924Hypoplastic thumbs hydranencephalyORPHA12214116697603506
HP:0002240HP:0002240Hepatomegaly0LYST CL E G H1130167ORPHA11028071968606897
HP:0002240HP:0002240Hepatomegaly0LYST CL E G H1130214500Ch├ędiak-Higashi syndrome214500C0007965OMIM11028071968606897
HP:0002240HP:0002240Hepatomegaly0LYZ CL E G H4069105200Familial visceral amyloidosis, Ostertag type105200C0268389OMIM110636740153450
HP:0002240HP:0002240Hepatomegaly0LZTR1 CL E G H8216648ORPHA1866996742600574
HP:0002240HP:0002240Hepatomegaly0MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM11513936826609458
HP:0002240HP:0002240Hepatomegaly0MARS CL E G H4141615486Interstitial lung and liver disease615486C4225400OMIM1176898156560
HP:0002240HP:0002240Hepatomegaly0MCM4 CL E G H4173609981Natural killer cell and glucocorticoid deficiency with DNA repair defect609981C1864947OMIM151716947602638
HP:0002240HP:0002240Hepatomegaly0MEFV CL E G H4210249100Familial Mediterranean fever249100C0031069OMIM11895616998608107
HP:0002240HP:0002240Hepatomegaly0MET CL E G H423333402ORPHA13912697029164860
HP:0002240HP:0002240Hepatomegaly0MFN2 CL E G H99272398Froster Iskenius Waterson syndromeORPHA123168016877608507
HP:0002240HP:0002240Hepatomegaly0MMAA CL E G H166785251100Methylmalonic aciduria cblA type251100C1855109OMIM17626318871607481
HP:0002240HP:0002240Hepatomegaly0MMAB CL E G H326625251110Methylmalonic aciduria cblB type251110C1855102OMIM14225619331607568
HP:0002240HP:0002240Hepatomegaly0MMUT CL E G H4594289916ORPHA14407526609058
HP:0002240HP:0002240Hepatomegaly0MMUT CL E G H4594251000Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency251000C1855114OMIM14407526609058
HP:0002240HP:0002240Hepatomegaly0MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM1817324862601336
HP:0002240HP:0002240Hepatomegaly0MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM126521606614738
HP:0002240HP:0002240Hepatomegaly0MPI CL E G H4351602579Congenital disorder of glycosylation type 1B602579C1865145OMIM1211747216154550
HP:0002240HP:0002240Hepatomegaly0MPL CL E G H4352729Anti-factor 8 autoimmunizationORPHA1571877217159530
HP:0002240HP:0002240Hepatomegaly0MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM1501247224137960
HP:0002240HP:0002240Hepatomegaly0MRPL3 CL E G H11222614582Combined oxidative phosphorylation deficiency 9614582C3281234OMIM144410379607118
HP:0002240HP:0002240Hepatomegaly0MRPS7 CL E G H51081617872COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34617872CN807947OMIM114314499611974
HP:0002240HP:0002240Hepatomegaly0MST1 CL E G H4485171Le Marec Bracq Picaud syndromeORPHA11157380142408
HP:0002240HP:0002240Hepatomegaly0MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0002240HP:0002240Hepatomegaly0MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0002240HP:0002240Hepatomegaly0MT-TW CL E G H4578251900Mitochondrial myopathy251900C0162670OMIM17501590095
HP:0002240HP:0002240Hepatomegaly0MVK CL E G H4598343ORPHA11832777530251170
HP:0002240HP:0002240Hepatomegaly0NAGA CL E G H466879281ORPHA1111307631104170
HP:0002240HP:0002240Hepatomegaly0NAGLU CL E G H4669252920Mucopolysaccharidosis, MPS-III-B252920C0086648OMIM11762847632609701
HP:0002240HP:0002240Hepatomegaly0NCF1 CL E G H653361379ORPHA148867660608512
HP:0002240HP:0002240Hepatomegaly0NCF1 CL E G H653361233700Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1233700C1856251OMIM148867660608512
HP:0002240HP:0002240Hepatomegaly0NCF2 CL E G H4688379ORPHA1791837661608515
HP:0002240HP:0002240Hepatomegaly0NCF2 CL E G H4688233710Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2233710C1856245OMIM1791837661608515
HP:0002240HP:0002240Hepatomegaly0NCF4 CL E G H4689379ORPHA1131197662601488
HP:0002240HP:0002240Hepatomegaly0NDUFAF1 CL E G H51103618234MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11618234OMIM177018828606934
HP:0002240HP:0002240Hepatomegaly0NEK8 CL E G H284086615415Renal-hepatic-pancreatic dysplasia 2615415C3809434OMIM11813913387609799
HP:0002240HP:0002240Hepatomegaly0NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM1641027758608272
HP:0002240HP:0002240Hepatomegaly0NHLRC2 CL E G H374354618278618278618278OMIM1228247310
HP:0002240HP:0002240Hepatomegaly0NLRC4 CL E G H584841451ORPHA1921416412606831
HP:0002240HP:0002240Hepatomegaly0NLRP3 CL E G H1145481451ORPHA114248816400606416
HP:0002240HP:0002240Hepatomegaly0NLRP3 CL E G H114548575Aicardi Goutieres syndromeC0393591ORPHA114248816400606416
HP:0002240HP:0002240Hepatomegaly0NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM1277814537601015
HP:0002240HP:0002240Hepatomegaly0NPHP3 CL E G H27031208540Renal-hepatic-pancreatic dysplasia208540C2673883OMIM1764417907608002
HP:0002240HP:0002240Hepatomegaly0NRAS CL E G H4893648ORPHA1141817989164790
HP:0002240HP:0002240Hepatomegaly0NRAS CL E G H4893614470RAS-associated autoimmune leukoproliferative disorder614470C2674723OMIM1141817989164790
HP:0002240HP:0002240Hepatomegaly0OCLN CL E G H100506658251290Band-like calcification with simplified gyration and polymicrogyria251290C3489725OMIM120618104602876
HP:0002240HP:0002240Hepatomegaly0OSTM1 CL E G H28962259720Osteopetrosis, autosomal recessive 5259720C1968603OMIM1912921652607649
HP:0002240HP:0002240Hepatomegaly0PC CL E G H5091266150Pyruvate carboxylase deficiency266150C0034341OMIM1423078636608786
HP:0002240HP:0002240Hepatomegaly0PCCA CL E G H509535ORPHA11493878653232000
HP:0002240HP:0002240Hepatomegaly0PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM11493878653232000
HP:0002240HP:0002240Hepatomegaly0PCCB CL E G H509635ORPHA11313018654232050
HP:0002240HP:0002240Hepatomegaly0PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM11313018654232050
HP:0002240HP:0002240Hepatomegaly0PCK1 CL E G H5105261680Phosphoenolpyruvate carboxykinase deficiency, cytosolic261680C1849814OMIM1101238724614168
HP:0002240HP:0002240Hepatomegaly0PDGFB CL E G H51551980ORPHA123448800190040
HP:0002240HP:0002240Hepatomegaly0PDGFRA CL E G H5156607685Idiopathic hypereosinophilic syndrome607685C0206141OMIM12812488803173490
HP:0002240HP:0002240Hepatomegaly0PDGFRB CL E G H51591980ORPHA1241508804173410
HP:0002240HP:0002240Hepatomegaly0PEPD CL E G H5184170100Prolidase deficiency170100C0268532OMIM1311298840613230
HP:0002240HP:0002240Hepatomegaly0PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM122840038614770
HP:0002240HP:0002240Hepatomegaly0PEX1 CL E G H5189912ORPHA11404898850602136
HP:0002240HP:0002240Hepatomegaly0PEX1 CL E G H5189772ORPHA11404898850602136
HP:0002240HP:0002240Hepatomegaly0PEX1 CL E G H5189601539Peroxisome biogenesis disorder 1B601539CN168921OMIM11404898850602136
HP:0002240HP:0002240Hepatomegaly0PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM11404898850602136
HP:0002240HP:0002240Hepatomegaly0PEX10 CL E G H5192772ORPHA1323478851602859
HP:0002240HP:0002240Hepatomegaly0PEX10 CL E G H5192912ORPHA1323478851602859
HP:0002240HP:0002240Hepatomegaly0PEX10 CL E G H5192614870Peroxisome biogenesis disorder 6A614870C3553947OMIM1323478851602859
HP:0002240HP:0002240Hepatomegaly0PEX11B CL E G H8799772ORPHA182478853603867
HP:0002240HP:0002240Hepatomegaly0PEX11B CL E G H8799912ORPHA182478853603867
HP:0002240HP:0002240Hepatomegaly0PEX12 CL E G H5193772ORPHA1371818854601758
HP:0002240HP:0002240Hepatomegaly0PEX12 CL E G H5193912ORPHA1371818854601758
HP:0002240HP:0002240Hepatomegaly0PEX12 CL E G H5193266510Infantile Refsum's disease266510C0282527OMIM1371818854601758
HP:0002240HP:0002240Hepatomegaly0PEX12 CL E G H5193614859Peroxisome biogenesis disorder 3A614859C3553929OMIM1371818854601758
HP:0002240HP:0002240Hepatomegaly0PEX13 CL E G H5194772ORPHA1101968855601789
HP:0002240HP:0002240Hepatomegaly0PEX13 CL E G H5194912ORPHA1101968855601789
HP:0002240HP:0002240Hepatomegaly0PEX14 CL E G H5195912ORPHA151768856601791
HP:0002240HP:0002240Hepatomegaly0PEX14 CL E G H5195772ORPHA151768856601791
HP:0002240HP:0002240Hepatomegaly0PEX14 CL E G H5195614887Peroxisome biogenesis disorder 13A614887C3554004OMIM151768856601791
HP:0002240HP:0002240Hepatomegaly0PEX16 CL E G H9409772ORPHA1151498857603360
HP:0002240HP:0002240Hepatomegaly0PEX16 CL E G H9409912ORPHA1151498857603360
HP:0002240HP:0002240Hepatomegaly0PEX16 CL E G H9409614876Peroxisome biogenesis disorder 8A614876C3553959OMIM1151498857603360
HP:0002240HP:0002240Hepatomegaly0PEX19 CL E G H5824772ORPHA141339713600279
HP:0002240HP:0002240Hepatomegaly0PEX19 CL E G H5824912ORPHA141339713600279
HP:0002240HP:0002240Hepatomegaly0PEX2 CL E G H5828772ORPHA1182089717170993
HP:0002240HP:0002240Hepatomegaly0PEX2 CL E G H5828912ORPHA1182089717170993
HP:0002240HP:0002240Hepatomegaly0PEX2 CL E G H5828614866Peroxisome biogenesis disorder 5a (zellweger)614866C3553940OMIM1182089717170993
HP:0002240HP:0002240Hepatomegaly0PEX26 CL E G H55670772ORPHA12727722965608666
HP:0002240HP:0002240Hepatomegaly0PEX26 CL E G H55670912ORPHA12727722965608666
HP:0002240HP:0002240Hepatomegaly0PEX26 CL E G H55670614872Peroxisome biogenesis disorder 7A614872C3539168OMIM12727722965608666
HP:0002240HP:0002240Hepatomegaly0PEX3 CL E G H8504772ORPHA1101168858603164
HP:0002240HP:0002240Hepatomegaly0PEX3 CL E G H8504912ORPHA1101168858603164
HP:0002240HP:0002240Hepatomegaly0PEX3 CL E G H8504614882Peroxisome biogenesis disorder 10A614882C3553999OMIM1101168858603164
HP:0002240HP:0002240Hepatomegaly0PEX5 CL E G H5830772ORPHA1142809719600414
HP:0002240HP:0002240Hepatomegaly0PEX5 CL E G H5830912ORPHA1142809719600414
HP:0002240HP:0002240Hepatomegaly0PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM1142809719600414
HP:0002240HP:0002240Hepatomegaly0PEX6 CL E G H5190912ORPHA11093758859601498
HP:0002240HP:0002240Hepatomegaly0PEX6 CL E G H5190772ORPHA11093758859601498
HP:0002240HP:0002240Hepatomegaly0PEX6 CL E G H5190614862Peroxisome biogenesis disorder 4a (zellweger)614862C3553936OMIM11093758859601498
HP:0002240HP:0002240Hepatomegaly0PEX6 CL E G H5190614863Peroxisome biogenesis disorder 4B614863C3553937OMIM11093758859601498
HP:0002240HP:0002240Hepatomegaly0PHKA2 CL E G H5256306000Glycogen storage disease type IXa1306000C0017927OMIM11143588926300798
HP:0002240HP:0002240Hepatomegaly0PHKB CL E G H5257261750Glycogen storage disease IXb261750C0543514OMIM1262358927172490
HP:0002240HP:0002240Hepatomegaly0PHKG2 CL E G H5261613027Glycogen storage disease IXc613027C2751643OMIM1331208931172471
HP:0002240HP:0002240Hepatomegaly0PIGM CL E G H93183610293Glycosylphosphatidylinositol deficiency610293C1853205OMIM112818858610273
HP:0002240HP:0002240Hepatomegaly0PKHD1 CL E G H5314263200Autosomal recessive polycystic kidney disease263200C0085548OMIM156516309016606702
HP:0002240HP:0002240Hepatomegaly0PLAGL1 CL E G H532596191ORPHA12299046603044
HP:0002240HP:0002240Hepatomegaly0PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM11293639115601785
HP:0002240HP:0002240Hepatomegaly0PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM14927730802609059
HP:0002240HP:0002240Hepatomegaly0POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM13222499175174761
HP:0002240HP:0002240Hepatomegaly0POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM130011969179174763
HP:0002240HP:0002240Hepatomegaly0PPARG CL E G H546879083ORPHA154909236601487
HP:0002240HP:0002240Hepatomegaly0PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA154909236601487
HP:0002240HP:0002240Hepatomegaly0PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM11842359360170280
HP:0002240HP:0002240Hepatomegaly0PRKCD CL E G H5580615559Autoimmune lymphoproliferative syndrome, type III615559C3809928OMIM161449399176977
HP:0002240HP:0002240Hepatomegaly0PRKCSH CL E G H55892924Hypoplastic thumbs hydranencephalyORPHA1281199411177060
HP:0002240HP:0002240Hepatomegaly0PSAP CL E G H5660139406ORPHA1272209498176801
HP:0002240HP:0002240Hepatomegaly0PSAP CL E G H5660611721Combined saposin deficiency611721C2673635OMIM1272209498176801
HP:0002240HP:0002240Hepatomegaly0PSMB8 CL E G H56962615ORPHA111869545177046
HP:0002240HP:0002240Hepatomegaly0PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM111869545177046
HP:0002240HP:0002240Hepatomegaly0PTPN11 CL E G H5781648ORPHA11434759644176876
HP:0002240HP:0002240Hepatomegaly0PTPRC CL E G H5788608971Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive608971C1837028OMIM182259666151460
HP:0002240HP:0002240Hepatomegaly0PTRH2 CL E G H51651616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset616263C4015728OMIM123424265608625
HP:0002240HP:0002240Hepatomegaly0RAB27A CL E G H587379477ORPHA1541769766603868
HP:0002240HP:0002240Hepatomegaly0RAF1 CL E G H5894648ORPHA1545089829164760
HP:0002240HP:0002240Hepatomegaly0RAG1 CL E G H589639041ORPHA11873349831179615
HP:0002240HP:0002240Hepatomegaly0RAG1 CL E G H5896603554Histiocytic medullary reticulosis603554C1801959OMIM11873349831179615
HP:0002240HP:0002240Hepatomegaly0RAG2 CL E G H589739041ORPHA1841759832179616
HP:0002240HP:0002240Hepatomegaly0RAG2 CL E G H5897603554Histiocytic medullary reticulosis603554C1801959OMIM1841759832179616
HP:0002240HP:0002240Hepatomegaly0RASA2 CL E G H5922648ORPHA13739872601589
HP:0002240HP:0002240Hepatomegaly0RFT1 CL E G H91869244310ORPHA11317930220611908
HP:0002240HP:0002240Hepatomegaly0RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM11317930220611908
HP:0002240HP:0002240Hepatomegaly0RHAG CL E G H6005185000Stomatocytosis I185000C1861455OMIM1283110006180297
HP:0002240HP:0002240Hepatomegaly0RHBDF2 CL E G H796512198ORPHA1414220788614404
HP:0002240HP:0002240Hepatomegaly0RIT1 CL E G H6016648ORPHA12610610023609591
HP:0002240HP:0002240Hepatomegaly0RMRP CL E G H602339041ORPHA112341110031157660
HP:0002240HP:0002240Hepatomegaly0RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM12113318518606034
HP:0002240HP:0002240Hepatomegaly0RNU4ATAC CL E G H100151683616651Roifman syndrome616651C1846059OMIM1245634016601428
HP:0002240HP:0002240Hepatomegaly0RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM15143229168610937
HP:0002240HP:0002240Hepatomegaly0RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA15143229168610937
HP:0002240HP:0002240Hepatomegaly0RRAS CL E G H6237648ORPHA127510447165090
HP:0002240HP:0002240Hepatomegaly0SAA1 CL E G H628885445ORPHA132410513104750
HP:0002240HP:0002240Hepatomegaly0SBDS CL E G H51119260400Shwachman syndrome260400C0272170OMIM1906019440607444
HP:0002240HP:0002240Hepatomegaly0SC5D CL E G H630946059ORPHA1618210547602286
HP:0002240HP:0002240Hepatomegaly0SCARB2 CL E G H95077259ORPHA1272291665602257
HP:0002240HP:0002240Hepatomegaly0SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1510110603603644
HP:0002240HP:0002240Hepatomegaly0SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM1115714372607982
HP:0002240HP:0002240Hepatomegaly0SEC63 CL E G H112312924Hypoplastic thumbs hydranencephalyORPHA12322721082608648
HP:0002240HP:0002240Hepatomegaly0SEC63 CL E G H11231617004Polycystic liver disease 2617004C4310769OMIM12322721082608648
HP:0002240HP:0002240Hepatomegaly0SERPINA1 CL E G H526560ORPHA11082868941107400
HP:0002240HP:0002240Hepatomegaly0SGSH CL E G H6448252900Mucopolysaccharidosis, MPS-III-A252900C0086647OMIM114840810818605270
HP:0002240HP:0002240Hepatomegaly0SH2D1A CL E G H40682442ORPHA113124010820300490
HP:0002240HP:0002240Hepatomegaly0SH2D1A CL E G H4068308240Lymphoproliferative syndrome 1, X-linked308240C1868674OMIM113124010820300490
HP:0002240HP:0002240Hepatomegaly0SKIV2L CL E G H6499614602Trichohepatoenteric syndrome 2614602C3281289OMIM13612010898600478
HP:0002240HP:0002240Hepatomegaly0SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM15519210933604322
HP:0002240HP:0002240Hepatomegaly0SLC20A2 CL E G H65751980ORPHA18918210947158378
HP:0002240HP:0002240Hepatomegaly0SLC22A5 CL E G H6584158ORPHA116149210969603377
HP:0002240HP:0002240Hepatomegaly0SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM116149210969603377
HP:0002240HP:0002240Hepatomegaly0SLC25A15 CL E G H10166238970Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome238970C0268540OMIM13820810985603861
HP:0002240HP:0002240Hepatomegaly0SLC25A19 CL E G H60386607196Amish lethal microcephaly607196C1846648OMIM189314409606521
HP:0002240HP:0002240Hepatomegaly0SLC25A20 CL E G H788159ORPHA1421021421613698
HP:0002240HP:0002240Hepatomegaly0SLC25A20 CL E G H788212138Carnitine acylcarnitine translocase deficiency212138C0342791OMIM1421021421613698
HP:0002240HP:0002240Hepatomegaly0SLC29A3 CL E G H55315602782Histiocytosis-lymphadenopathy plus syndrome602782C1864445OMIM12619023096612373
HP:0002240HP:0002240Hepatomegaly0SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM128151611005138140
HP:0002240HP:0002240Hepatomegaly0SLC30A10 CL E G H55532309854ORPHA1229225355611146
HP:0002240HP:0002240Hepatomegaly0SLC30A10 CL E G H55532613280Hypermanganesemia with dystonia 1613280OMIM1229225355611146
HP:0002240HP:0002240Hepatomegaly0SLC37A4 CL E G H2542232220Glucose-6-phosphate transport defect232220C0268146OMIM11165984061602671
HP:0002240HP:0002240Hepatomegaly0SLC37A4 CL E G H2542232240Phosphate transport defect232240C0342749OMIM11165984061602671
HP:0002240HP:0002240Hepatomegaly0SLC39A4 CL E G H55630201100Hereditary acrodermatitis enteropathica201100C0221036OMIM15223617129607059
HP:0002240HP:0002240Hepatomegaly0SLC7A7 CL E G H9056222700Lysinuric protein intolerance222700C0268647OMIM16725211065603593
HP:0002240HP:0002240Hepatomegaly0SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM125439711120607608
HP:0002240HP:0002240Hepatomegaly0SMPD1 CL E G H6609607616Niemann-Pick disease, type B607616C0268243OMIM125439711120607608
HP:0002240HP:0002240Hepatomegaly0SNX10 CL E G H29887667ORPHA1134614974614780
HP:0002240HP:0002240Hepatomegaly0SNX10 CL E G H29887615085Osteopetrosis, autosomal recessive 8615085C3554478OMIM1134614974614780
HP:0002240HP:0002240Hepatomegaly0SOS1 CL E G H6654648ORPHA17566511187182530
HP:0002240HP:0002240Hepatomegaly0SOS2 CL E G H6655648ORPHA1632411188601247
HP:0002240HP:0002240Hepatomegaly0SP110 CL E G H343179124ORPHA1121875401604457
HP:0002240HP:0002240Hepatomegaly0SRP54 CL E G H6729260400Shwachman syndrome260400C0272170OMIM133111301604857
HP:0002240HP:0002240Hepatomegaly0STEAP3 CL E G H55240615234Hypochromic microcytic anemia with iron overload 2615234C3808920OMIM113724592609671
HP:0002240HP:0002240Hepatomegaly0SUMF1 CL E G H285362585ORPHA15526520376607939
HP:0002240HP:0002240Hepatomegaly0SUMF1 CL E G H285362272200Multiple sulfatase deficiency272200C0268263OMIM15526520376607939
HP:0002240HP:0002240Hepatomegaly0TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM135724316612958
HP:0002240HP:0002240Hepatomegaly0TALDO1 CL E G H6888606003Deficiency of transaldolase606003C1291329OMIM1108811559602063
HP:0002240HP:0002240Hepatomegaly0TCF4 CL E G H6925171Le Marec Bracq Picaud syndromeORPHA114862411634602272
HP:0002240HP:0002240Hepatomegaly0TCIRG1 CL E G H10312667ORPHA113728911647604592
HP:0002240HP:0002240Hepatomegaly0TCIRG1 CL E G H10312259700Osteopetrosis autosomal recessive 1259700C1850127OMIM113728911647604592
HP:0002240HP:0002240Hepatomegaly0TET2 CL E G H54790729Anti-factor 8 autoimmunizationORPHA1126725941612839
HP:0002240HP:0002240Hepatomegaly0TMEM165 CL E G H55858614727Congenital disorder of glycosylation type 2k614727C3553571OMIM166830760614726
HP:0002240HP:0002240Hepatomegaly0TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM117431628396609884
HP:0002240HP:0002240Hepatomegaly0TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA117431628396609884
HP:0002240HP:0002240Hepatomegaly0TMEM70 CL E G H549681194ORPHA11815126050612418
HP:0002240HP:0002240Hepatomegaly0TNFRSF13B CL E G H23495240500Common variable immunodeficiency 2240500C3150354OMIM15022818153604907
HP:0002240HP:0002240Hepatomegaly0TNFRSF13C CL E G H115650240500Common variable immunodeficiency 2240500C3150354OMIM138217755606269
HP:0002240HP:0002240Hepatomegaly0TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA135011917191191
HP:0002240HP:0002240Hepatomegaly0TNFSF11 CL E G H8600667ORPHA11611711926602642
HP:0002240HP:0002240Hepatomegaly0TRAPPC11 CL E G H60684369840ORPHA11735125751614138
HP:0002240HP:0002240Hepatomegaly0TRIM37 CL E G H45912576Grubben de Cock Borghgraef syndromeORPHA1231567523605073
HP:0002240HP:0002240Hepatomegaly0TRIM37 CL E G H4591253250Mulibrey nanism syndrome253250C0524582OMIM1231567523605073
HP:0002240HP:0002240Hepatomegaly0TRMU CL E G H55687613070Liver failure acute infantile613070C3278664OMIM12329625481610230
HP:0002240HP:0002240Hepatomegaly0TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM1710312367604723
HP:0002240HP:0002240Hepatomegaly0TTC37 CL E G H9652222470Trichohepatoenteric syndrome 1222470CN034858OMIM16412823639614589
HP:0002240HP:0002240Hepatomegaly0TUFM CL E G H7284610678Combined oxidative phosphorylation deficiency 4610678C1857682OMIM1720912420602389
HP:0002240HP:0002240Hepatomegaly0UCP2 CL E G H7351276556ORPHA1103612518601693
HP:0002240HP:0002240Hepatomegaly0USP18 CL E G H11274617397Pseudo-torch syndrome 2617397C4479376OMIM1114712616607057
HP:0002240HP:0002240Hepatomegaly0VPS33A CL E G H65082617303Mucopolysaccharidosis-plus syndrome617303C4310627OMIM114618179610034
HP:0002240HP:0002240Hepatomegaly0VPS45 CL E G H11311615285Severe congenital neutropenia 5, autosomal recessive615285C3809031OMIM1410214579610035
HP:0002240HP:0002240Hepatomegaly0WDR35 CL E G H57539613610Cranioectodermal dysplasia 2613610C3150874OMIM13129229250613602
HP:0002240HP:0002240Hepatomegaly0WT1 CL E G H749083469ORPHA118463512796607102
HP:0002240HP:0002240Hepatomegaly0XIAP CL E G H3312442ORPHA199361592300079
HP:0002240HP:0002240Hepatomegaly0XIAP CL E G H331308240Lymphoproliferative syndrome 1, X-linked308240C1868674OMIM199361592300079
HP:0002240HP:0002240Hepatomegaly0XPR1 CL E G H92131980ORPHA1105712827605237
HP:0002240HP:0002240Hepatomegaly0ZAP70 CL E G H7535269840Severe combined immunodeficiency, atypical269840C1849236OMIM13018612858176947
HP:0002240HP:0002240Hepatomegaly1 CL E G H105259599130650Beckwith-Wiedemann syndrome130650C0004903OMIM1280
HP:0002240HP:0002240Hepatomegaly1A2ML1 CL E G H144568648ORPHA12149223336610627
HP:0002240HP:0002240Hepatomegaly1ABCA1 CL E G H19205400Tangier disease205400C0039292OMIM124035229600046
HP:0002240HP:0002240Hepatomegaly1ABCB11 CL E G H8647605479Benign recurrent intrahepatic cholestasis 2605479C2608083OMIM133146042603201
HP:0002240HP:0002240Hepatomegaly1ABCB11 CL E G H8647601847Progressive familial intrahepatic cholestasis 2601847C3489789OMIM133146042603201
HP:0002240HP:0002240Hepatomegaly1ABCB4 CL E G H5244602347Progressive familial intrahepatic cholestasis 3602347C1865643OMIM124433445171060
HP:0002240HP:0002240Hepatomegaly1ABCC8 CL E G H6833276575ORPHA166160259600509
HP:0002240HP:0002240Hepatomegaly1ABCD3 CL E G H5825616278Bile acid synthesis defect, congenital, 5616278C4225390OMIM172667170995
HP:0002240HP:0002240Hepatomegaly1ABHD5 CL E G H5109998907ORPHA13915521396604780
HP:0002240HP:0002240Hepatomegaly1ABHD5 CL E G H51099275630Triglyceride storage disease with ichthyosis275630C0268238OMIM13915521396604780
HP:0002240HP:0002240Hepatomegaly1ACADL CL E G H3399900ORPHA123388609576
HP:0002240HP:0002240Hepatomegaly1ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM117138989607008
HP:0002240HP:0002240Hepatomegaly1ACADVL CL E G H37201475Very long chain acyl-CoA dehydrogenase deficiency201475C3887523OMIM128376792609575
HP:0002240HP:0002240Hepatomegaly1ACOX1 CL E G H512971ORPHA126257119609751
HP:0002240HP:0002240Hepatomegaly1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM126257119609751
HP:0002240HP:0002240Hepatomegaly1ADA CL E G H10039041ORPHA196215186608958
HP:0002240HP:0002240Hepatomegaly1ADA CL E G H100102700Severe combined immunodeficiency due to ADA deficiency102700C1863236OMIM196215186608958
HP:0002240HP:0002240Hepatomegaly1ADAMTSL2 CL E G H9719231050Geleophysic dysplasia 1231050C3278147OMIM12821014631612277
HP:0002240HP:0002240Hepatomegaly1AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM138239318613228
HP:0002240HP:0002240Hepatomegaly1AGL CL E G H178232400Glycogen storage disease type III232400C0017922OMIM1248858321610860
HP:0002240HP:0002240Hepatomegaly1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA143189325603100
HP:0002240HP:0002240Hepatomegaly1AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM143189325603100
HP:0002240HP:0002240Hepatomegaly1AKR1D1 CL E G H671879303ORPHA115179388604741
HP:0002240HP:0002240Hepatomegaly1AKR1D1 CL E G H6718235555Bile acid synthesis defect, congenital, 2235555C1856127OMIM115179388604741
HP:0002240HP:0002240Hepatomegaly1AKT2 CL E G H20879085ORPHA1746392164731
HP:0002240HP:0002240Hepatomegaly1ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM167210417612724
HP:0002240HP:0002240Hepatomegaly1ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM14416818294605907
HP:0002240HP:0002240Hepatomegaly1ALG13 CL E G H79868300884Epileptic encephalopathy, early infantile, 36300884C3550904OMIM11446330881300776
HP:0002240HP:0002240Hepatomegaly1ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM1515323159607905
HP:0002240HP:0002240Hepatomegaly1ALG8 CL E G H79053608104Congenital disorder of glycosylation type 1H608104C2931002OMIM1179623161608103
HP:0002240HP:0002240Hepatomegaly1ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM13161745428606844
HP:0002240HP:0002240Hepatomegaly1AMACR CL E G H23600214950Bile acid synthesis defect, congenital, 4214950C1858328OMIM114147451604489
HP:0002240HP:0002240Hepatomegaly1AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM135238566603401
HP:0002240HP:0002240Hepatomegaly1AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1490568607246
HP:0002240HP:0002240Hepatomegaly1APOA1 CL E G H335105200Familial visceral amyloidosis, Ostertag type105200C0268389OMIM17776600107680
HP:0002240HP:0002240Hepatomegaly1APOC2 CL E G H344207750Apolipoprotein C2 deficiency207750C1720779OMIM12445609608083
HP:0002240HP:0002240Hepatomegaly1APOE CL E G H348158029ORPHA16462613107741
HP:0002240HP:0002240Hepatomegaly1APOE CL E G H348412ORPHA16462613107741
HP:0002240HP:0002240Hepatomegaly1APOPT1 CL E G H84334436271ORPHA19320492616003
HP:0002240HP:0002240Hepatomegaly1APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM19320492616003
HP:0002240HP:0002240Hepatomegaly1ARSB CL E G H411253200Mucopolysaccharidosis type VI253200C0026709OMIM1207446714611542
HP:0002240HP:0002240Hepatomegaly1ASAH1 CL E G H427333ORPHA171306735613468
HP:0002240HP:0002240Hepatomegaly1ASAH1 CL E G H427228000Farber disease228000C0268255OMIM171306735613468
HP:0002240HP:0002240Hepatomegaly1ASL CL E G H435207900Argininosuccinate lyase deficiency207900C0268547OMIM1169264746608310
HP:0002240HP:0002240Hepatomegaly1ASS1 CL E G H445215700Citrullinemia type I215700C0175683OMIM1157323758603470
HP:0002240HP:0002240Hepatomegaly1ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM15233868300197
HP:0002240HP:0002240Hepatomegaly1ATP7B CL E G H540905ORPHA1938958870606882
HP:0002240HP:0002240Hepatomegaly1ATP7B CL E G H540277900Wilson disease277900C0019202OMIM1938958870606882
HP:0002240HP:0002240Hepatomegaly1ATP8B1 CL E G H5205243300Cholestasis, benign recurrent intrahepatic 1243300C1855731OMIM11403613706602397
HP:0002240HP:0002240Hepatomegaly1ATP8B1 CL E G H5205211600Progressive intrahepatic cholestasis211600C0268312OMIM11403613706602397
HP:0002240HP:0002240Hepatomegaly1ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM1218718802608918
HP:0002240HP:0002240Hepatomegaly1B2M CL E G H567105200Familial visceral amyloidosis, Ostertag type105200C0268389OMIM1424914109700
HP:0002240HP:0002240Hepatomegaly1BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM164224415613183
HP:0002240HP:0002240Hepatomegaly1BRAF CL E G H673648ORPHA1684901097164757
HP:0002240HP:0002240Hepatomegaly1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA15026315832606158
HP:0002240HP:0002240Hepatomegaly1BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM15026315832606158
HP:0002240HP:0002240Hepatomegaly1BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM12483711122609019
HP:0002240HP:0002240Hepatomegaly1C15orf41 CL E G H84529615631ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib615631C3810185OMIM1626929615626
HP:0002240HP:0002240Hepatomegaly1CA2 CL E G H7602785ORPHA131761373611492
HP:0002240HP:0002240Hepatomegaly1CASP10 CL E G H843603909Autoimmune lymphoproliferative syndrome, type 2A603909C1858968OMIM192361500601762
HP:0002240HP:0002240Hepatomegaly1CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA14109551514601199
HP:0002240HP:0002240Hepatomegaly1CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM14109551514601199
HP:0002240HP:0002240Hepatomegaly1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA113621527601047
HP:0002240HP:0002240Hepatomegaly1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA115949688603198
HP:0002240HP:0002240Hepatomegaly1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM115949688603198
HP:0002240HP:0002240Hepatomegaly1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM19658429253612013
HP:0002240HP:0002240Hepatomegaly1CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA19658429253612013
HP:0002240HP:0002240Hepatomegaly1CCDC115 CL E G H84317616828CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo616828C4225191OMIM154828178613734
HP:0002240HP:0002240Hepatomegaly1CD19 CL E G H930240500Common variable immunodeficiency 2240500C3150354OMIM1101961633107265
HP:0002240HP:0002240Hepatomegaly1CD27 CL E G H939615122Lymphoproliferative syndrome 2615122C3554540OMIM189611922186711
HP:0002240HP:0002240Hepatomegaly1CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA1271653186760
HP:0002240HP:0002240Hepatomegaly1CD40LG CL E G H959308230Immunodeficiency with hyper IgM type 1308230C0398689OMIM124127811935300386
HP:0002240HP:0002240Hepatomegaly1CD55 CL E G H1604226300Protein-losing enteropathy226300C0033680OMIM125322665125240
HP:0002240HP:0002240Hepatomegaly1CD96 CL E G H10225211750C syndrome211750C0796095OMIM134716892606037
HP:0002240HP:0002240Hepatomegaly1CDKN1C CL E G H1028130650Beckwith-Wiedemann syndrome130650C0004903OMIM1814711786600856
HP:0002240HP:0002240Hepatomegaly1CHD7 CL E G H5563639041ORPHA1884126620626608892
HP:0002240HP:0002240Hepatomegaly1CIDEC CL E G H63924435651ORPHA116224229612120
HP:0002240HP:0002240Hepatomegaly1CIDEC CL E G H63924615238Familial partial lipodystrophy 5615238C3808940OMIM116224229612120
HP:0002240HP:0002240Hepatomegaly1CLCN7 CL E G H1186667ORPHA11002682025602727
HP:0002240HP:0002240Hepatomegaly1CLDN1 CL E G H907659303ORPHA14732032603718
HP:0002240HP:0002240Hepatomegaly1CLDN1 CL E G H9076607626Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis607626C1843355OMIM14732032603718
HP:0002240HP:0002240Hepatomegaly1COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM171925716615623
HP:0002240HP:0002240Hepatomegaly1COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM1515918622606978
HP:0002240HP:0002240Hepatomegaly1COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1132082260602125
HP:0002240HP:0002240Hepatomegaly1COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111428216614478
HP:0002240HP:0002240Hepatomegaly1COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1112726970614698
HP:0002240HP:0002240Hepatomegaly1COX4I2 CL E G H84701612714Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis612714C2675184OMIM113316232607976
HP:0002240HP:0002240Hepatomegaly1COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13342280124089
HP:0002240HP:0002240Hepatomegaly1COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM11122294123870
HP:0002240HP:0002240Hepatomegaly1CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM1731362321612732
HP:0002240HP:0002240Hepatomegaly1CPT1A CL E G H1374156ORPHA1532392328600528
HP:0002240HP:0002240Hepatomegaly1CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM1532392328600528
HP:0002240HP:0002240Hepatomegaly1CPT2 CL E G H1376228305ORPHA11133662330600650
HP:0002240HP:0002240Hepatomegaly1CPT2 CL E G H1376228308ORPHA11133662330600650
HP:0002240HP:0002240Hepatomegaly1CPT2 CL E G H1376600649Carnitine palmitoyltransferase II deficiency, infantile600649C1833511OMIM11133662330600650
HP:0002240HP:0002240Hepatomegaly1CPT2 CL E G H1376608836Carnitine palmitoyltransferase II deficiency, lethal neonatal608836C1833518OMIM11133662330600650
HP:0002240HP:0002240Hepatomegaly1CR2 CL E G H1380240500Common variable immunodeficiency 2240500C3150354OMIM1192332336120650
HP:0002240HP:0002240Hepatomegaly1CTLA4 CL E G H1493616100Autoimmune lymphoproliferatiVe syndrome, type V616100C4015214OMIM1721142505123890
HP:0002240HP:0002240Hepatomegaly1CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA1721142505123890
HP:0002240HP:0002240Hepatomegaly1CTNNB1 CL E G H149933402ORPHA1541802514116806
HP:0002240HP:0002240Hepatomegaly1CTNS CL E G H1497219800Nephropathic cystinosis219800C0010690OMIM11604182518606272
HP:0002240HP:0002240Hepatomegaly1CYBA CL E G H1535379ORPHA1761792577608508
HP:0002240HP:0002240Hepatomegaly1CYBA CL E G H1535233690Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative233690C1856255OMIM1761792577608508
HP:0002240HP:0002240Hepatomegaly1CYBB CL E G H1536379ORPHA17823762578300481
HP:0002240HP:0002240Hepatomegaly1CYBB CL E G H1536306400Chronic granulomatous disease, X-linked306400C1844376OMIM17823762578300481
HP:0002240HP:0002240Hepatomegaly1CYBC1 CL E G H79415379ORPHA1133286720
HP:0002240HP:0002240Hepatomegaly1CYP7B1 CL E G H942079302ORPHA1631992652603711
HP:0002240HP:0002240Hepatomegaly1CYP7B1 CL E G H9420613812Bile acid synthesis defect, congenital, 3613812C3151147OMIM1631992652603711
HP:0002240HP:0002240Hepatomegaly1DCDC2 CL E G H51473616217Nephronophthisis 19616217C4015542OMIM11110618141605755
HP:0002240HP:0002240Hepatomegaly1DCDC2 CL E G H51473617394Sclerosing cholangitis, neonatal617394C4479344OMIM11110618141605755
HP:0002240HP:0002240Hepatomegaly1DCLRE1C CL E G H6442139041ORPHA19131817642605988
HP:0002240HP:0002240Hepatomegaly1DCLRE1C CL E G H64421603554Histiocytic medullary reticulosis603554C1801959OMIM19131817642605988
HP:0002240HP:0002240Hepatomegaly1DDRGK1 CL E G H6599293352ORPHA114216110616177
HP:0002240HP:0002240Hepatomegaly1DDRGK1 CL E G H65992602557Spondyloepimetaphyseal dysplasia Shohat type602557C1865185OMIM114216110616177
HP:0002240HP:0002240Hepatomegaly1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM1641222858601465
HP:0002240HP:0002240Hepatomegaly1DGUOK CL E G H1716617068Portal hypertension, noncirrhotic617068C4310735OMIM1641222858601465
HP:0002240HP:0002240Hepatomegaly1DHDDS CL E G H79947613861Retinitis pigmentosa 59613861C3151227OMIM1812220603608172
HP:0002240HP:0002240Hepatomegaly1DHFR CL E G H1719613839Megaloblastic anemia due to dihydrofolate reductase deficiency613839C3151205OMIM192032861126060
HP:0002240HP:0002240Hepatomegaly1DIS3L2 CL E G H1295632849ORPHA11488128648614184
HP:0002240HP:0002240Hepatomegaly1DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA1232022898238331
HP:0002240HP:0002240Hepatomegaly1DNAJC21 CL E G H134218260400Shwachman syndrome260400C0272170OMIM1116027030617048
HP:0002240HP:0002240Hepatomegaly1DOLK CL E G H2284591131ORPHA11121523406610746
HP:0002240HP:0002240Hepatomegaly1DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM191203005603503
HP:0002240HP:0002240Hepatomegaly1DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM11417324595617083
HP:0002240HP:0002240Hepatomegaly1EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA1811253255604032
HP:0002240HP:0002240Hepatomegaly1EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM1811253255604032
HP:0002240HP:0002240Hepatomegaly1ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM11404993438609413
HP:0002240HP:0002240Hepatomegaly1ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM1701993439609412
HP:0002240HP:0002240Hepatomegaly1ETFA CL E G H2108231680Glutaric aciduria, type 2231680C0268596OMIM1301243481608053
HP:0002240HP:0002240Hepatomegaly1ETFB CL E G H2109231680Glutaric aciduria, type 2231680C0268596OMIM1151063482130410
HP:0002240HP:0002240Hepatomegaly1ETFDH CL E G H2110231680Glutaric aciduria, type 2231680C0268596OMIM11912563483231675
HP:0002240HP:0002240Hepatomegaly1EWSR1 CL E G H213083469ORPHA18433508133450
HP:0002240HP:0002240Hepatomegaly1F5 CL E G H2153131Myeloid sarcomaORPHA11693293542612309
HP:0002240HP:0002240Hepatomegaly1FAH CL E G H2184276700Tyrosinemia type I276700C0268490OMIM11022633579613871
HP:0002240HP:0002240Hepatomegaly1FAM111B CL E G H374393615704Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis615704C3810325OMIM171724200615584
HP:0002240HP:0002240Hepatomegaly1FAS CL E G H355601859Autoimmune lymphoproliferative syndrome601859C1328840OMIM114216911920134637
HP:0002240HP:0002240Hepatomegaly1FASLG CL E G H356601859Autoimmune lymphoproliferative syndrome601859C1328840OMIM1119811936134638
HP:0002240HP:0002240Hepatomegaly1FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1323529160612322
HP:0002240HP:0002240Hepatomegaly1FBN1 CL E G H2200614185Geleophysic dysplasia 2614185C3280054OMIM1272142843603134797
HP:0002240HP:0002240Hepatomegaly1FBP1 CL E G H2203229700Fructose-biphosphatase deficiency229700C0016756OMIM1481483606611570
HP:0002240HP:0002240Hepatomegaly1FDX2 CL E G H112812251900Mitochondrial myopathy251900C0162670OMIM123030546614585
HP:0002240HP:0002240Hepatomegaly1FERMT3 CL E G H83706612840Leukocyte adhesion deficiency, type III612840C2748536OMIM11413723151607901
HP:0002240HP:0002240Hepatomegaly1FGA CL E G H2243105200Familial visceral amyloidosis, Ostertag type105200C0268389OMIM11551103661134820
HP:0002240HP:0002240Hepatomegaly1FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA12283796164810
HP:0002240HP:0002240Hepatomegaly1FUCA1 CL E G H2517230000Fucosidosis230000C0016788OMIM1341094006612280
HP:0002240HP:0002240Hepatomegaly1FUCA1 CL E G H2517349Neuroaxonal dystrophy renal tubular acidosisORPHA1341094006612280
HP:0002240HP:0002240Hepatomegaly1G6PC CL E G H2538232200Glycogen storage disease type 1A232200C2919796OMIM11184056613742
HP:0002240HP:0002240Hepatomegaly1G6PC3 CL E G H92579612541Severe congenital neutropenia 4, autosomal recessive612541C2675526OMIM14011924861611045
HP:0002240HP:0002240Hepatomegaly1GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM158211854065606800
HP:0002240HP:0002240Hepatomegaly1GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM1271124116606953
HP:0002240HP:0002240Hepatomegaly1GALNS CL E G H2588253000Mucopolysaccharidosis, MPS-IV-A253000C0086651OMIM13443684122612222
HP:0002240HP:0002240Hepatomegaly1GALT CL E G H2592230400Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase230400C0268151OMIM13375554135606999
HP:0002240HP:0002240Hepatomegaly1GATA2 CL E G H26243226Lethal chondrodysplasia Seller typeORPHA11515164171137295
HP:0002240HP:0002240Hepatomegaly1GBA CL E G H262977261ORPHA14942064177606463
HP:0002240HP:0002240Hepatomegaly1GBA CL E G H262977259ORPHA14942064177606463
HP:0002240HP:0002240Hepatomegaly1GBA CL E G H262977260ORPHA14942064177606463
HP:0002240HP:0002240Hepatomegaly1GBA CL E G H262985212ORPHA14942064177606463
HP:0002240HP:0002240Hepatomegaly1GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14942064177606463
HP:0002240HP:0002240Hepatomegaly1GBA CL E G H2629231005Gaucher disease type 3C231005C1856476OMIM14942064177606463
HP:0002240HP:0002240Hepatomegaly1GBA CL E G H2629608013Gaucher disease, perinatal lethal608013C1842704OMIM14942064177606463
HP:0002240HP:0002240Hepatomegaly1GBA CL E G H2629230800Gaucher's disease, type 1230800C1961835OMIM14942064177606463
HP:0002240HP:0002240Hepatomegaly1GBA CL E G H2629231000Subacute neuronopathic Gaucher's disease231000C0268251OMIM14942064177606463
HP:0002240HP:0002240Hepatomegaly1GCDH CL E G H2639231670Glutaric aciduria, type 1231670C0268595OMIM12443374189608801
HP:0002240HP:0002240Hepatomegaly1GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM11921813780606639
HP:0002240HP:0002240Hepatomegaly1GLB1 CL E G H2720230500Infantile GM1 gangliosidosis230500C0268271OMIM12313084298611458
HP:0002240HP:0002240Hepatomegaly1GLB1 CL E G H2720253010Mucopolysaccharidosis, MPS-IV-B253010C0086652OMIM12313084298611458
HP:0002240HP:0002240Hepatomegaly1GLIS3 CL E G H169792610199Diabetes mellitus, neonatal, with congenital hypothyroidism610199C1857775OMIM11946328510610192
HP:0002240HP:0002240Hepatomegaly1GLRX5 CL E G H51218616860Sideroblastic anemia 3, pyridoxine-refractory616860C4225155OMIM164720134609588
HP:0002240HP:0002240Hepatomegaly1GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA122247523657603824
HP:0002240HP:0002240Hepatomegaly1GNE CL E G H10020269921Sialuria269921C0342853OMIM122247523657603824
HP:0002240HP:0002240Hepatomegaly1GNMT CL E G H27232606664Glycine N-methyltransferase deficiency606664C1847720OMIM16244415606628
HP:0002240HP:0002240Hepatomegaly1GNPTAB CL E G H79158576ORPHA118846229670607840
HP:0002240HP:0002240Hepatomegaly1GNPTAB CL E G H79158252500I cell disease252500C2673377OMIM118846229670607840
HP:0002240HP:0002240Hepatomegaly1GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM1251464422607664
HP:0002240HP:0002240Hepatomegaly1GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA1985264451300037
HP:0002240HP:0002240Hepatomegaly1GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM1985264451300037
HP:0002240HP:0002240Hepatomegaly1GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA151964452300168
HP:0002240HP:0002240Hepatomegaly1GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM151964452300168
HP:0002240HP:0002240Hepatomegaly1GPD1 CL E G H2819614480Hypertriglyceridemia, transient infantile614480C3280953OMIM110284455138420
HP:0002240HP:0002240Hepatomegaly1GPIHBP1 CL E G H338328615947Hyperlipoproteinemia, type ID615947C4014767OMIM1347524945612757
HP:0002240HP:0002240Hepatomegaly1GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA121124492602646
HP:0002240HP:0002240Hepatomegaly1GUCY2D CL E G H3000204000Leber congenital amaurosis 1204000C2931258OMIM12433884689600179
HP:0002240HP:0002240Hepatomegaly1GUSB CL E G H2990253220Mucopolysaccharidosis type VII253220C0085132OMIM1661574696611499
HP:0002240HP:0002240Hepatomegaly1H19 CL E G H283120130650Beckwith-Wiedemann syndrome130650C0004903OMIM138494713103280
HP:0002240HP:0002240Hepatomegaly1HADHA CL E G H30305ORPHA1713024801600890
HP:0002240HP:0002240Hepatomegaly1HADHA CL E G H3030609016Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency609016CN074230OMIM1713024801600890
HP:0002240HP:0002240Hepatomegaly1HAMP CL E G H57817613313Hemochromatosis type 2B613313C1865616OMIM1164215598606464
HP:0002240HP:0002240Hepatomegaly1HBA1 CL E G H3039163596ORPHA12173464823141800
HP:0002240HP:0002240Hepatomegaly1HBA1 CL E G H3039613978Hemoglobin H613978C3161174OMIM12173464823141800
HP:0002240HP:0002240Hepatomegaly1HBA2 CL E G H3040163596ORPHA12962744824141850
HP:0002240HP:0002240Hepatomegaly1HBA2 CL E G H3040613978Hemoglobin H613978C3161174OMIM12962744824141850
HP:0002240HP:0002240Hepatomegaly1HBB CL E G H3043231222ORPHA187110094827141900
HP:0002240HP:0002240Hepatomegaly1HBB CL E G H3043231214ORPHA187110094827141900
HP:0002240HP:0002240Hepatomegaly1HBB CL E G H304346532ORPHA187110094827141900
HP:0002240HP:0002240Hepatomegaly1HBB CL E G H3043603903Hb SS disease603903C0002895OMIM187110094827141900
HP:0002240HP:0002240Hepatomegaly1HBG1 CL E G H304746532ORPHA144564831142200
HP:0002240HP:0002240Hepatomegaly1HBG2 CL E G H304846532ORPHA149724832142250
HP:0002240HP:0002240Hepatomegaly1HFE CL E G H3077465508ORPHA1611034886613609
HP:0002240HP:0002240Hepatomegaly1HFE CL E G H3077235200Hemochromatosis type 1235200C3469186OMIM1611034886613609
HP:0002240HP:0002240Hepatomegaly1HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM17237126527610453
HP:0002240HP:0002240Hepatomegaly1HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM1601365005613898
HP:0002240HP:0002240Hepatomegaly1HMGCS2 CL E G H3158605911mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency605911C2751532OMIM1331275008600234
HP:0002240HP:0002240Hepatomegaly1HMOX1 CL E G H3162614034Heme oxygenase 1 deficiency614034C1841651OMIM114325013141250
HP:0002240HP:0002240Hepatomegaly1HNF1A CL E G H6927324575ORPHA153934311621142410
HP:0002240HP:0002240Hepatomegaly1HNF4A CL E G H3172263455Hyperinsulinism due to HNF4A deficiencyCN202290ORPHA11572835024600281
HP:0002240HP:0002240Hepatomegaly1HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM11013055213601860
HP:0002240HP:0002240Hepatomegaly1HSD3B7 CL E G H8027079301ORPHA1269618324607764
HP:0002240HP:0002240Hepatomegaly1HSD3B7 CL E G H80270607765Bile acid synthesis defect, congenital, 1607765C1843116OMIM1269618324607764
HP:0002240HP:0002240Hepatomegaly1HYMAI CL E G H5706196191ORPHA1155326606546
HP:0002240HP:0002240Hepatomegaly1ICOS CL E G H29851607594Common variable immunodeficiency 1607594C3149378OMIM161085351604558
HP:0002240HP:0002240Hepatomegaly1ICOS CL E G H29851240500Common variable immunodeficiency 2240500C3150354OMIM161085351604558
HP:0002240HP:0002240Hepatomegaly1IDS CL E G H3423309900Mucopolysaccharidosis, MPS-II309900C0026705OMIM16404245389300823
HP:0002240HP:0002240Hepatomegaly1IDUA CL E G H342593476ORPHA12916225391252800
HP:0002240HP:0002240Hepatomegaly1IDUA CL E G H342593474ORPHA12916225391252800
HP:0002240HP:0002240Hepatomegaly1IDUA CL E G H342593473ORPHA12916225391252800
HP:0002240HP:0002240Hepatomegaly1IDUA CL E G H3425607014Dysostosis multiplex607014C0086795OMIM12916225391252800
HP:0002240HP:0002240Hepatomegaly1IDUA CL E G H3425607015Mucopolysaccharidosis, MPS-I-H/S607015C0086431OMIM12916225391252800
HP:0002240HP:0002240Hepatomegaly1IFT122 CL E G H55764218330Cranioectodermal dysplasia 1218330C0432235OMIM12319913556606045
HP:0002240HP:0002240Hepatomegaly1IFT140 CL E G H9742266920Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia266920C1849437OMIM17253029077614620
HP:0002240HP:0002240Hepatomegaly1IFT172 CL E G H26160615630Short-rib thoracic dysplasia 10 with or without polydactyly615630C3810175OMIM12726930391607386
HP:0002240HP:0002240Hepatomegaly1IGF2 CL E G H3481130650Beckwith-Wiedemann syndrome130650C0004903OMIM111675466147470
HP:0002240HP:0002240Hepatomegaly1IL1RN CL E G H3557612852Osteomyelitis, sterile multifocal, with periostitis and pustulosis612852C2748507OMIM1181016000147679
HP:0002240HP:0002240Hepatomegaly1IL2RA CL E G H3559606367Interleukin 2 receptor, alpha, deficiency of606367C1853392OMIM1191766008147730
HP:0002240HP:0002240Hepatomegaly1IL2RG CL E G H356139041ORPHA12502716010308380
HP:0002240HP:0002240Hepatomegaly1IL2RG CL E G H3561300400X-linked severe combined immunodeficiency300400C1279481OMIM12502716010308380
HP:0002240HP:0002240Hepatomegaly1IL7R CL E G H357539041ORPHA1592406024146661
HP:0002240HP:0002240Hepatomegaly1IL7R CL E G H3575608971Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive608971C1837028OMIM1592406024146661
HP:0002240HP:0002240Hepatomegaly1INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA15432521474613037
HP:0002240HP:0002240Hepatomegaly1ITCH CL E G H83737613385Autoimmune disease, syndromic multisystem613385C3150649OMIM129013890606409
HP:0002240HP:0002240Hepatomegaly1ITK CL E G H3702613011Lymphoproliferative syndrome 1613011C3552634OMIM1141796171186973
HP:0002240HP:0002240Hepatomegaly1JAK2 CL E G H3717729Anti-factor 8 autoimmunizationORPHA1262286192147796
HP:0002240HP:0002240Hepatomegaly1JAK2 CL E G H3717131Myeloid sarcomaORPHA1262286192147796
HP:0002240HP:0002240Hepatomegaly1JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM1411615532606871
HP:0002240HP:0002240Hepatomegaly1KAT6B CL E G H23522648ORPHA17622817582605880
HP:0002240HP:0002240Hepatomegaly1KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM113916250603305
HP:0002240HP:0002240Hepatomegaly1KCNJ11 CL E G H3767276580ORPHA11872276257600937
HP:0002240HP:0002240Hepatomegaly1KCNN4 CL E G H3783616689Dehydrated hereditary stomatocytosis 2616689C4225242OMIM14186293602754
HP:0002240HP:0002240Hepatomegaly1KCNQ1 CL E G H3784130650Beckwith-Wiedemann syndrome130650C0004903OMIM164312436294607542
HP:0002240HP:0002240Hepatomegaly1KCNQ1OT1 CL E G H10984130650Beckwith-Wiedemann syndrome130650C0004903OMIM18966295604115
HP:0002240HP:0002240Hepatomegaly1KLF1 CL E G H1066146532ORPHA1105766345600599
HP:0002240HP:0002240Hepatomegaly1KLF1 CL E G H10661613673Congenital dyserythropoietic anemia, type IV613673C3150926OMIM1105766345600599
HP:0002240HP:0002240Hepatomegaly1KRAS CL E G H3845648ORPHA1452746407190070
HP:0002240HP:0002240Hepatomegaly1KRAS CL E G H3845614470RAS-associated autoimmune leukoproliferative disorder614470C2674723OMIM1452746407190070
HP:0002240HP:0002240Hepatomegaly1LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM176512151350
HP:0002240HP:0002240Hepatomegaly1LBR CL E G H3930779Arthrogryposis due to muscular dystrophyORPHA1281726518600024
HP:0002240HP:0002240Hepatomegaly1LBR CL E G H3930215140Greenberg dysplasia215140C2931048OMIM1281726518600024
HP:0002240HP:0002240Hepatomegaly1LBR CL E G H3930613471Reynolds syndrome613471C0748397OMIM1281726518600024
HP:0002240HP:0002240Hepatomegaly1LIG4 CL E G H398139041ORPHA1403176601601837
HP:0002240HP:0002240Hepatomegaly1LIPA CL E G H398875233ORPHA1962466617613497
HP:0002240HP:0002240Hepatomegaly1LIPA CL E G H398875234Cholesteryl ester storage diseaseC0008384ORPHA1962466617613497
HP:0002240HP:0002240Hepatomegaly1LIPA CL