Human Phenotype Ontology 
Grandparent Node:
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Abnormal 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 H144568648ORPHA1114623336610627
HP:0002240HP:0002240Hepatomegaly0ABCA1 CL E G H19205400Tangier disease205400C0039292OMIM199329600046
HP:0002240HP:0002240Hepatomegaly0ABCB11 CL E G H8647605479Benign recurrent intrahepatic cholestasis 2605479C2608083OMIM196742603201
HP:0002240HP:0002240Hepatomegaly0ABCB11 CL E G H8647601847Progressive familial intrahepatic cholestasis 2601847C3489789OMIM196742603201
HP:0002240HP:0002240Hepatomegaly0ABCB4 CL E G H5244602347Progressive familial intrahepatic cholestasis 3602347C1865643OMIM145345171060
HP:0002240HP:0002240Hepatomegaly0ABCC8 CL E G H6833276575ORPHA1156959600509
HP:0002240HP:0002240Hepatomegaly0ABCD3 CL E G H5825616278Bile acid synthesis defect, congenital, 5616278C4225390OMIM15067170995
HP:0002240HP:0002240Hepatomegaly0ABHD5 CL E G H5109998907ORPHA119421396604780
HP:0002240HP:0002240Hepatomegaly0ABHD5 CL E G H51099275630Triglyceride storage disease with ichthyosis275630C0268238OMIM119421396604780
HP:0002240HP:0002240Hepatomegaly0ACADL CL E G H3399900ORPHA13888609576
HP:0002240HP:0002240Hepatomegaly0ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM163589607008
HP:0002240HP:0002240Hepatomegaly0ACADVL CL E G H37201475Very long chain acyl-CoA dehydrogenase deficiency201475C3887523OMIM1129792609575
HP:0002240HP:0002240Hepatomegaly0ACOX1 CL E G H512971ORPHA1517119609751
HP:0002240HP:0002240Hepatomegaly0ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1517119609751
HP:0002240HP:0002240Hepatomegaly0ADA CL E G H10039041ORPHA1448186608958
HP:0002240HP:0002240Hepatomegaly0ADA CL E G H100102700Severe combined immunodeficiency due to ADA deficiency102700C1863236OMIM1448186608958
HP:0002240HP:0002240Hepatomegaly0ADAMTSL2 CL E G H9719231050Geleophysic dysplasia 1231050C3278147OMIM124714631612277
HP:0002240HP:0002240Hepatomegaly0AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1413318613228
HP:0002240HP:0002240Hepatomegaly0AGL CL E G H178232400Glycogen storage disease type III232400C0017922OMIM11774321610860
HP:0002240HP:0002240Hepatomegaly0AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1213325603100
HP:0002240HP:0002240Hepatomegaly0AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1213325603100
HP:0002240HP:0002240Hepatomegaly0AKR1D1 CL E G H671879303ORPHA1204388604741
HP:0002240HP:0002240Hepatomegaly0AKR1D1 CL E G H6718235555Bile acid synthesis defect, congenital, 2235555C1856127OMIM1204388604741
HP:0002240HP:0002240Hepatomegaly0AKT2 CL E G H20879085ORPHA1115392164731
HP:0002240HP:0002240Hepatomegaly0ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM1371417612724
HP:0002240HP:0002240Hepatomegaly0ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM149518294605907
HP:0002240HP:0002240Hepatomegaly0ALG13 CL E G H79868300884Epileptic encephalopathy, early infantile, 36300884C3550904OMIM180330881300776
HP:0002240HP:0002240Hepatomegaly0ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM126223159607905
HP:0002240HP:0002240Hepatomegaly0ALG8 CL E G H79053608104Congenital disorder of glycosylation type 1H608104C2931002OMIM122523161608103
HP:0002240HP:0002240Hepatomegaly0ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM14321428606844
HP:0002240HP:0002240Hepatomegaly0AMACR CL E G H23600214950Bile acid synthesis defect, congenital, 4214950C1858328OMIM1290451604489
HP:0002240HP:0002240Hepatomegaly0AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM1532566603401
HP:0002240HP:0002240Hepatomegaly0AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1596568607246
HP:0002240HP:0002240Hepatomegaly0APOA1 CL E G H335105200Familial visceral amyloidosis, Ostertag type105200C0268389OMIM1192600107680
HP:0002240HP:0002240Hepatomegaly0APOC2 CL E G H344207750Apolipoprotein C2 deficiency207750C1720779OMIM187609608083
HP:0002240HP:0002240Hepatomegaly0APOE CL E G H348158029ORPHA1136613107741
HP:0002240HP:0002240Hepatomegaly0APOE CL E G H348412ORPHA1136613107741
HP:0002240HP:0002240Hepatomegaly0APOPT1 CL E G H84334436271ORPHA115220492616003
HP:0002240HP:0002240Hepatomegaly0APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM115220492616003
HP:0002240HP:0002240Hepatomegaly0ARSB CL E G H411253200Mucopolysaccharidosis type VI253200C0026709OMIM1692714611542
HP:0002240HP:0002240Hepatomegaly0ASAH1 CL E G H427333ORPHA1712735613468
HP:0002240HP:0002240Hepatomegaly0ASAH1 CL E G H427228000Farber disease228000C0268255OMIM1712735613468
HP:0002240HP:0002240Hepatomegaly0ASL CL E G H435207900Argininosuccinate lyase deficiency207900C0268547OMIM1554746608310
HP:0002240HP:0002240Hepatomegaly0ASS1 CL E G H445215700Citrullinemia type I215700C0175683OMIM1571758603470
HP:0002240HP:0002240Hepatomegaly0ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM1319868300197
HP:0002240HP:0002240Hepatomegaly0ATP7B CL E G H540905ORPHA11806870606882
HP:0002240HP:0002240Hepatomegaly0ATP7B CL E G H540277900Wilson disease277900C0019202OMIM11806870606882
HP:0002240HP:0002240Hepatomegaly0ATP8B1 CL E G H5205243300Cholestasis, benign recurrent intrahepatic 1243300C1855731OMIM15093706602397
HP:0002240HP:0002240Hepatomegaly0ATP8B1 CL E G H5205211600Progressive intrahepatic cholestasis211600C0268312OMIM15093706602397
HP:0002240HP:0002240Hepatomegaly0ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM122818802608918
HP:0002240HP:0002240Hepatomegaly0B2M CL E G H567105200Familial visceral amyloidosis, Ostertag type105200C0268389OMIM145914109700
HP:0002240HP:0002240Hepatomegaly0BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM17624415613183
HP:0002240HP:0002240Hepatomegaly0BRAF CL E G H673648ORPHA19481097164757
HP:0002240HP:0002240Hepatomegaly0BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA143515832606158
HP:0002240HP:0002240Hepatomegaly0BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM143515832606158
HP:0002240HP:0002240Hepatomegaly0BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM14561122609019
HP:0002240HP:0002240Hepatomegaly0C15orf41 CL E G H84529615631ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib615631C3810185OMIM126929615626
HP:0002240HP:0002240Hepatomegaly0CA2 CL E G H7602785ORPHA11421373611492
HP:0002240HP:0002240Hepatomegaly0CASP10 CL E G H843603909Autoimmune lymphoproliferative syndrome, type 2A603909C1858968OMIM13851500601762
HP:0002240HP:0002240Hepatomegaly0CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA120391514601199
HP:0002240HP:0002240Hepatomegaly0CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM120391514601199
HP:0002240HP:0002240Hepatomegaly0CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA11151527601047
HP:0002240HP:0002240Hepatomegaly0CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11129688603198
HP:0002240HP:0002240Hepatomegaly0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11129688603198
HP:0002240HP:0002240Hepatomegaly0CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1117629253612013
HP:0002240HP:0002240Hepatomegaly0CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA1117629253612013
HP:0002240HP:0002240Hepatomegaly0CCDC115 CL E G H84317616828CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo616828C4225191OMIM17028178613734
HP:0002240HP:0002240Hepatomegaly0CD19 CL E G H930240500Common variable immunodeficiency 2240500C3150354OMIM13251633107265
HP:0002240HP:0002240Hepatomegaly0CD27 CL E G H939615122Lymphoproliferative syndrome 2615122C3554540OMIM118111922186711
HP:0002240HP:0002240Hepatomegaly0CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA1331653186760
HP:0002240HP:0002240Hepatomegaly0CD40LG CL E G H959308230Immunodeficiency with hyper IgM type 1308230C0398689OMIM133911935300386
HP:0002240HP:0002240Hepatomegaly0CD55 CL E G H1604226300Protein-losing enteropathy226300C0033680OMIM11372665125240
HP:0002240HP:0002240Hepatomegaly0CD96 CL E G H10225211750C syndrome211750C0796095OMIM17216892606037
HP:0002240HP:0002240Hepatomegaly0CDKN1C CL E G H1028130650Beckwith-Wiedemann syndrome130650C0004903OMIM19121786600856
HP:0002240HP:0002240Hepatomegaly0CHD7 CL E G H5563639041ORPHA1231820626608892
HP:0002240HP:0002240Hepatomegaly0CIDEC CL E G H63924435651ORPHA18124229612120
HP:0002240HP:0002240Hepatomegaly0CIDEC CL E G H63924615238Familial partial lipodystrophy 5615238C3808940OMIM18124229612120
HP:0002240HP:0002240Hepatomegaly0CLCN7 CL E G H1186667ORPHA17292025602727
HP:0002240HP:0002240Hepatomegaly0CLDN1 CL E G H907659303ORPHA1922032603718
HP:0002240HP:0002240Hepatomegaly0CLDN1 CL E G H9076607626Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis607626C1843355OMIM1922032603718
HP:0002240HP:0002240Hepatomegaly0COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13225716615623
HP:0002240HP:0002240Hepatomegaly0COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM129618622606978
HP:0002240HP:0002240Hepatomegaly0COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12932260602125
HP:0002240HP:0002240Hepatomegaly0COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12828216614478
HP:0002240HP:0002240Hepatomegaly0COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM116226970614698
HP:0002240HP:0002240Hepatomegaly0COX4I2 CL E G H84701612714Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis612714C2675184OMIM15516232607976
HP:0002240HP:0002240Hepatomegaly0COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1522280124089
HP:0002240HP:0002240Hepatomegaly0COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1232294123870
HP:0002240HP:0002240Hepatomegaly0CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM12072321612732
HP:0002240HP:0002240Hepatomegaly0CPT1A CL E G H1374156ORPHA16202328600528
HP:0002240HP:0002240Hepatomegaly0CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM16202328600528
HP:0002240HP:0002240Hepatomegaly0CPT2 CL E G H1376228308ORPHA17202330600650
HP:0002240HP:0002240Hepatomegaly0CPT2 CL E G H1376228305ORPHA17202330600650
HP:0002240HP:0002240Hepatomegaly0CPT2 CL E G H1376600649Carnitine palmitoyltransferase II deficiency, infantile600649C1833511OMIM17202330600650
HP:0002240HP:0002240Hepatomegaly0CPT2 CL E G H1376608836Carnitine palmitoyltransferase II deficiency, lethal neonatal608836C1833518OMIM17202330600650
HP:0002240HP:0002240Hepatomegaly0CR2 CL E G H1380240500Common variable immunodeficiency 2240500C3150354OMIM15162336120650
HP:0002240HP:0002240Hepatomegaly0CTLA4 CL E G H1493616100Autoimmune lymphoproliferatiVe syndrome, type V616100C4015214OMIM11902505123890
HP:0002240HP:0002240Hepatomegaly0CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA11902505123890
HP:0002240HP:0002240Hepatomegaly0CTNNB1 CL E G H149933402ORPHA14682514116806
HP:0002240HP:0002240Hepatomegaly0CTNS CL E G H1497219800Nephropathic cystinosis219800C0010690OMIM16512518606272
HP:0002240HP:0002240Hepatomegaly0CYBA CL E G H1535379ORPHA13922577608508
HP:0002240HP:0002240Hepatomegaly0CYBA CL E G H1535233690Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative233690C1856255OMIM13922577608508
HP:0002240HP:0002240Hepatomegaly0CYBB CL E G H1536379ORPHA16392578300481
HP:0002240HP:0002240Hepatomegaly0CYBB CL E G H1536306400Chronic granulomatous disease, X-linked306400C1844376OMIM16392578300481
HP:0002240HP:0002240Hepatomegaly0CYBC1 CL E G H79415379ORPHA1110286720
HP:0002240HP:0002240Hepatomegaly0CYP7B1 CL E G H942079302ORPHA13332652603711
HP:0002240HP:0002240Hepatomegaly0CYP7B1 CL E G H9420613812Bile acid synthesis defect, congenital, 3613812C3151147OMIM13332652603711
HP:0002240HP:0002240Hepatomegaly0DCDC2 CL E G H51473616217Nephronophthisis 19616217C4015542OMIM120118141605755
HP:0002240HP:0002240Hepatomegaly0DCDC2 CL E G H51473617394Sclerosing cholangitis, neonatal617394C4479344OMIM120118141605755
HP:0002240HP:0002240Hepatomegaly0DCLRE1C CL E G H6442139041ORPHA169817642605988
HP:0002240HP:0002240Hepatomegaly0DCLRE1C CL E G H64421603554Histiocytic medullary reticulosis603554C1801959OMIM169817642605988
HP:0002240HP:0002240Hepatomegaly0DDRGK1 CL E G H6599293352ORPHA18716110616177
HP:0002240HP:0002240Hepatomegaly0DDRGK1 CL E G H65992602557Spondyloepimetaphyseal dysplasia Shohat type602557C1865185OMIM18716110616177
HP:0002240HP:0002240Hepatomegaly0DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM11672858601465
HP:0002240HP:0002240Hepatomegaly0DGUOK CL E G H1716617068Portal hypertension, noncirrhotic617068C4310735OMIM11672858601465
HP:0002240HP:0002240Hepatomegaly0DHDDS CL E G H79947613861Retinitis pigmentosa 59613861C3151227OMIM131820603608172
HP:0002240HP:0002240Hepatomegaly0DHFR CL E G H1719613839Megaloblastic anemia due to dihydrofolate reductase deficiency613839C3151205OMIM14932861126060
HP:0002240HP:0002240Hepatomegaly0DIS3L2 CL E G H1295632849ORPHA1171428648614184
HP:0002240HP:0002240Hepatomegaly0DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA14222898238331
HP:0002240HP:0002240Hepatomegaly0DNAJC21 CL E G H134218260400Shwachman syndrome260400C0272170OMIM123627030617048
HP:0002240HP:0002240Hepatomegaly0DOLK CL E G H2284591131ORPHA142423406610746
HP:0002240HP:0002240Hepatomegaly0DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM12033005603503
HP:0002240HP:0002240Hepatomegaly0DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM141424595617083
HP:0002240HP:0002240Hepatomegaly0EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA13593255604032
HP:0002240HP:0002240Hepatomegaly0EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM13593255604032
HP:0002240HP:0002240Hepatomegaly0ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM111703438609413
HP:0002240HP:0002240Hepatomegaly0ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM13903439609412
HP:0002240HP:0002240Hepatomegaly0ETFA CL E G H2108231680Glutaric aciduria, type 2231680C0268596OMIM13313481608053
HP:0002240HP:0002240Hepatomegaly0ETFB CL E G H2109231680Glutaric aciduria, type 2231680C0268596OMIM11923482130410
HP:0002240HP:0002240Hepatomegaly0ETFDH CL E G H2110231680Glutaric aciduria, type 2231680C0268596OMIM16073483231675
HP:0002240HP:0002240Hepatomegaly0EWSR1 CL E G H213083469ORPHA1613508133450
HP:0002240HP:0002240Hepatomegaly0F5 CL E G H2153131Myeloid sarcomaORPHA15133542612309
HP:0002240HP:0002240Hepatomegaly0FAH CL E G H2184276700Tyrosinemia type I276700C0268490OMIM15053579613871
HP:0002240HP:0002240Hepatomegaly0FAM111B CL E G H374393615704Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis615704C3810325OMIM13124200615584
HP:0002240HP:0002240Hepatomegaly0FAS CL E G H355601859Autoimmune lymphoproliferative syndrome601859C1328840OMIM131311920134637
HP:0002240HP:0002240Hepatomegaly0FASLG CL E G H356601859Autoimmune lymphoproliferative syndrome601859C1328840OMIM115811936134638
HP:0002240HP:0002240Hepatomegaly0FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM131529160612322
HP:0002240HP:0002240Hepatomegaly0FBN1 CL E G H2200614185Geleophysic dysplasia 2614185C3280054OMIM159703603134797
HP:0002240HP:0002240Hepatomegaly0FBP1 CL E G H2203229700Fructose-biphosphatase deficiency229700C0016756OMIM11933606611570
HP:0002240HP:0002240Hepatomegaly0FDX2 CL E G H112812251900Mitochondrial myopathy251900C0162670OMIM17330546614585
HP:0002240HP:0002240Hepatomegaly0FERMT3 CL E G H83706612840Leukocyte adhesion deficiency, type III612840C2748536OMIM134323151607901
HP:0002240HP:0002240Hepatomegaly0FGA CL E G H2243105200Familial visceral amyloidosis, Ostertag type105200C0268389OMIM11683661134820
HP:0002240HP:0002240Hepatomegaly0FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA1293796164810
HP:0002240HP:0002240Hepatomegaly0FUCA1 CL E G H2517230000Fucosidosis230000C0016788OMIM12224006612280
HP:0002240HP:0002240Hepatomegaly0FUCA1 CL E G H2517349Neuroaxonal dystrophy renal tubular acidosisORPHA12224006612280
HP:0002240HP:0002240Hepatomegaly0G6PC CL E G H2538232200Glycogen storage disease type 1A232200C2919796OMIM14056613742
HP:0002240HP:0002240Hepatomegaly0G6PC3 CL E G H92579612541Severe congenital neutropenia 4, autosomal recessive612541C2675526OMIM121824861611045
HP:0002240HP:0002240Hepatomegaly0GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM120684065606800
HP:0002240HP:0002240Hepatomegaly0GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11534116606953
HP:0002240HP:0002240Hepatomegaly0GALNS CL E G H2588253000Mucopolysaccharidosis, MPS-IV-A253000C0086651OMIM19444122612222
HP:0002240HP:0002240Hepatomegaly0GALT CL E G H2592230400Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase230400C0268151OMIM16454135606999
HP:0002240HP:0002240Hepatomegaly0GATA2 CL E G H26243226Lethal chondrodysplasia Seller typeORPHA111184171137295
HP:0002240HP:0002240Hepatomegaly0GBA CL E G H262977259ORPHA14177606463
HP:0002240HP:0002240Hepatomegaly0GBA CL E G H262985212ORPHA14177606463
HP:0002240HP:0002240Hepatomegaly0GBA CL E G H262977260ORPHA14177606463
HP:0002240HP:0002240Hepatomegaly0GBA CL E G H262977261ORPHA14177606463
HP:0002240HP:0002240Hepatomegaly0GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14177606463
HP:0002240HP:0002240Hepatomegaly0GBA CL E G H2629231005Gaucher disease type 3C231005C1856476OMIM14177606463
HP:0002240HP:0002240Hepatomegaly0GBA CL E G H2629608013Gaucher disease, perinatal lethal608013C1842704OMIM14177606463
HP:0002240HP:0002240Hepatomegaly0GBA CL E G H2629230800Gaucher's disease, type 1230800C1961835OMIM14177606463
HP:0002240HP:0002240Hepatomegaly0GBA CL E G H2629231000Subacute neuronopathic Gaucher's disease231000C0268251OMIM14177606463
HP:0002240HP:0002240Hepatomegaly0GCDH CL E G H2639231670Glutaric aciduria, type 1231670C0268595OMIM16004189608801
HP:0002240HP:0002240Hepatomegaly0GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM149513780606639
HP:0002240HP:0002240Hepatomegaly0GLB1 CL E G H2720230500Infantile GM1 gangliosidosis230500C0268271OMIM16964298611458
HP:0002240HP:0002240Hepatomegaly0GLB1 CL E G H2720253010Mucopolysaccharidosis, MPS-IV-B253010C0086652OMIM16964298611458
HP:0002240HP:0002240Hepatomegaly0GLIS3 CL E G H169792610199Diabetes mellitus, neonatal, with congenital hypothyroidism610199C1857775OMIM159328510610192
HP:0002240HP:0002240Hepatomegaly0GLRX5 CL E G H51218616860Sideroblastic anemia 3, pyridoxine-refractory616860C4225155OMIM17720134609588
HP:0002240HP:0002240Hepatomegaly0GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA178323657603824
HP:0002240HP:0002240Hepatomegaly0GNE CL E G H10020269921Sialuria269921C0342853OMIM178323657603824
HP:0002240HP:0002240Hepatomegaly0GNMT CL E G H27232606664Glycine N-methyltransferase deficiency606664C1847720OMIM1754415606628
HP:0002240HP:0002240Hepatomegaly0GNPTAB CL E G H79158576ORPHA1100329670607840
HP:0002240HP:0002240Hepatomegaly0GNPTAB CL E G H79158252500I cell disease252500C2673377OMIM1100329670607840
HP:0002240HP:0002240Hepatomegaly0GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM14284422607664
HP:0002240HP:0002240Hepatomegaly0GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA18554451300037
HP:0002240HP:0002240Hepatomegaly0GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM18554451300037
HP:0002240HP:0002240Hepatomegaly0GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA12144452300168
HP:0002240HP:0002240Hepatomegaly0GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM12144452300168
HP:0002240HP:0002240Hepatomegaly0GPD1 CL E G H2819614480Hypertriglyceridemia, transient infantile614480C3280953OMIM1764455138420
HP:0002240HP:0002240Hepatomegaly0GPIHBP1 CL E G H338328615947Hyperlipoproteinemia, type ID615947C4014767OMIM116624945612757
HP:0002240HP:0002240Hepatomegaly0GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA11204492602646
HP:0002240HP:0002240Hepatomegaly0GUCY2D CL E G H3000204000Leber congenital amaurosis 1204000C2931258OMIM18384689600179
HP:0002240HP:0002240Hepatomegaly0GUSB CL E G H2990253220Mucopolysaccharidosis type VII253220C0085132OMIM12774696611499
HP:0002240HP:0002240Hepatomegaly0H19 CL E G H283120130650Beckwith-Wiedemann syndrome130650C0004903OMIM1584713103280
HP:0002240HP:0002240Hepatomegaly0HADHA CL E G H30305ORPHA16304801600890
HP:0002240HP:0002240Hepatomegaly0HADHA CL E G H3030609016Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency609016CN074230OMIM16304801600890
HP:0002240HP:0002240Hepatomegaly0HAMP CL E G H57817613313Hemochromatosis type 2B613313C1865616OMIM16315598606464
HP:0002240HP:0002240Hepatomegaly0HBA1 CL E G H3039163596ORPHA13794823141800
HP:0002240HP:0002240Hepatomegaly0HBA1 CL E G H3039613978Hemoglobin H613978C3161174OMIM13794823141800
HP:0002240HP:0002240Hepatomegaly0HBA2 CL E G H3040163596ORPHA13334824141850
HP:0002240HP:0002240Hepatomegaly0HBA2 CL E G H3040613978Hemoglobin H613978C3161174OMIM13334824141850
HP:0002240HP:0002240Hepatomegaly0HBB CL E G H304346532ORPHA114504827141900
HP:0002240HP:0002240Hepatomegaly0HBB CL E G H3043231222ORPHA114504827141900
HP:0002240HP:0002240Hepatomegaly0HBB CL E G H3043231214ORPHA114504827141900
HP:0002240HP:0002240Hepatomegaly0HBB CL E G H3043603903Hb SS disease603903C0002895OMIM114504827141900
HP:0002240HP:0002240Hepatomegaly0HBG1 CL E G H304746532ORPHA1674831142200
HP:0002240HP:0002240Hepatomegaly0HBG2 CL E G H304846532ORPHA1784832142250
HP:0002240HP:0002240Hepatomegaly0HFE CL E G H3077465508ORPHA11854886613609
HP:0002240HP:0002240Hepatomegaly0HFE CL E G H3077235200Hemochromatosis type 1235200C3469186OMIM11854886613609
HP:0002240HP:0002240Hepatomegaly0HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM184326527610453
HP:0002240HP:0002240Hepatomegaly0HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM13275005613898
HP:0002240HP:0002240Hepatomegaly0HMGCS2 CL E G H3158605911mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency605911C2751532OMIM12295008600234
HP:0002240HP:0002240Hepatomegaly0HMOX1 CL E G H3162614034Heme oxygenase 1 deficiency614034C1841651OMIM11245013141250
HP:0002240HP:0002240Hepatomegaly0HNF1A CL E G H6927324575ORPHA172511621142410
HP:0002240HP:0002240Hepatomegaly0HNF4A CL E G H3172263455Hyperinsulinism due to HNF4A deficiencyCN202290ORPHA14485024600281
HP:0002240HP:0002240Hepatomegaly0HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM17865213601860
HP:0002240HP:0002240Hepatomegaly0HSD3B7 CL E G H8027079301ORPHA110918324607764
HP:0002240HP:0002240Hepatomegaly0HSD3B7 CL E G H80270607765Bile acid synthesis defect, congenital, 1607765C1843116OMIM110918324607764
HP:0002240HP:0002240Hepatomegaly0HYMAI CL E G H5706196191ORPHA1175326606546
HP:0002240HP:0002240Hepatomegaly0ICOS CL E G H29851607594Common variable immunodeficiency 1607594C3149378OMIM11695351604558
HP:0002240HP:0002240Hepatomegaly0ICOS CL E G H29851240500Common variable immunodeficiency 2240500C3150354OMIM11695351604558
HP:0002240HP:0002240Hepatomegaly0IDS CL E G H3423309900Mucopolysaccharidosis, MPS-II309900C0026705OMIM17685389300823
HP:0002240HP:0002240Hepatomegaly0IDUA CL E G H342593474ORPHA113135391252800
HP:0002240HP:0002240Hepatomegaly0IDUA CL E G H342593473ORPHA113135391252800
HP:0002240HP:0002240Hepatomegaly0IDUA CL E G H342593476ORPHA113135391252800
HP:0002240HP:0002240Hepatomegaly0IDUA CL E G H3425607014Dysostosis multiplex607014C0086795OMIM113135391252800
HP:0002240HP:0002240Hepatomegaly0IDUA CL E G H3425607015Mucopolysaccharidosis, MPS-I-H/S607015C0086431OMIM113135391252800
HP:0002240HP:0002240Hepatomegaly0IFT122 CL E G H55764218330Cranioectodermal dysplasia 1218330C0432235OMIM146213556606045
HP:0002240HP:0002240Hepatomegaly0IFT140 CL E G H9742266920Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia266920C1849437OMIM1128429077614620
HP:0002240HP:0002240Hepatomegaly0IFT172 CL E G H26160615630Short-rib thoracic dysplasia 10 with or without polydactyly615630C3810175OMIM198930391607386
HP:0002240HP:0002240Hepatomegaly0IGF2 CL E G H3481130650Beckwith-Wiedemann syndrome130650C0004903OMIM1985466147470
HP:0002240HP:0002240Hepatomegaly0IL1RN CL E G H3557612852Osteomyelitis, sterile multifocal, with periostitis and pustulosis612852C2748507OMIM12026000147679
HP:0002240HP:0002240Hepatomegaly0IL2RA CL E G H3559606367Interleukin 2 receptor, alpha, deficiency of606367C1853392OMIM12656008147730
HP:0002240HP:0002240Hepatomegaly0IL2RG CL E G H356139041ORPHA14526010308380
HP:0002240HP:0002240Hepatomegaly0IL2RG CL E G H3561300400X-linked severe combined immunodeficiency300400C1279481OMIM14526010308380
HP:0002240HP:0002240Hepatomegaly0IL7R CL E G H357539041ORPHA13756024146661
HP:0002240HP:0002240Hepatomegaly0IL7R CL E G H3575608971Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive608971C1837028OMIM13756024146661
HP:0002240HP:0002240Hepatomegaly0INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA162021474613037
HP:0002240HP:0002240Hepatomegaly0ITCH CL E G H83737613385Autoimmune disease, syndromic multisystem613385C3150649OMIM126213890606409
HP:0002240HP:0002240Hepatomegaly0ITK CL E G H3702613011Lymphoproliferative syndrome 1613011C3552634OMIM13696171186973
HP:0002240HP:0002240Hepatomegaly0JAK2 CL E G H3717729Anti-factor 8 autoimmunizationORPHA12936192147796
HP:0002240HP:0002240Hepatomegaly0JAK2 CL E G H3717131Myeloid sarcomaORPHA12936192147796
HP:0002240HP:0002240Hepatomegaly0JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM120115532606871
HP:0002240HP:0002240Hepatomegaly0KAT6B CL E G H23522648ORPHA160517582605880
HP:0002240HP:0002240Hepatomegaly0KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM14136250603305
HP:0002240HP:0002240Hepatomegaly0KCNJ11 CL E G H3767276580ORPHA13806257600937
HP:0002240HP:0002240Hepatomegaly0KCNN4 CL E G H3783616689Dehydrated hereditary stomatocytosis 2616689C4225242OMIM1426293602754
HP:0002240HP:0002240Hepatomegaly0KCNQ1 CL E G H3784130650Beckwith-Wiedemann syndrome130650C0004903OMIM117686294607542
HP:0002240HP:0002240Hepatomegaly0KCNQ1OT1 CL E G H10984130650Beckwith-Wiedemann syndrome130650C0004903OMIM12326295604115
HP:0002240HP:0002240Hepatomegaly0KLF1 CL E G H1066146532ORPHA1876345600599
HP:0002240HP:0002240Hepatomegaly0KLF1 CL E G H10661613673Congenital dyserythropoietic anemia, type IV613673C3150926OMIM1876345600599
HP:0002240HP:0002240Hepatomegaly0KRAS CL E G H3845648ORPHA14406407190070
HP:0002240HP:0002240Hepatomegaly0KRAS CL E G H3845614470RAS-associated autoimmune leukoproliferative disorder614470C2674723OMIM14406407190070
HP:0002240HP:0002240Hepatomegaly0LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM16512151350
HP:0002240HP:0002240Hepatomegaly0LBR CL E G H3930779Arthrogryposis due to muscular dystrophyORPHA12856518600024
HP:0002240HP:0002240Hepatomegaly0LBR CL E G H3930215140Greenberg dysplasia215140C2931048OMIM12856518600024
HP:0002240HP:0002240Hepatomegaly0LBR CL E G H3930613471Reynolds syndrome613471C0748397OMIM12856518600024
HP:0002240HP:0002240Hepatomegaly0LIG4 CL E G H398139041ORPHA15106601601837
HP:0002240HP:0002240Hepatomegaly0LIPA CL E G H398875233ORPHA14616617613497
HP:0002240HP:0002240Hepatomegaly0LIPA CL E G H398875234Cholesteryl ester storage diseaseC0008384ORPHA14616617613497
HP:0002240HP:0002240Hepatomegaly0LIPA CL E G H3988278000Lysosomal acid lipase deficiency278000C0043208OMIM14616617613497
HP:0002240HP:0002240Hepatomegaly0LIPE CL E G H3991435660ORPHA1826621151750
HP:0002240HP:0002240Hepatomegaly0LMNA CL E G H4000280365ORPHA116226636150330
HP:0002240HP:0002240Hepatomegaly0LMNA CL E G H400079084ORPHA116226636150330
HP:0002240HP:0002240Hepatomegaly0LMNA CL E G H40002348ORPHA116226636150330
HP:0002240HP:0002240Hepatomegaly0LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM116226636150330
HP:0002240HP:0002240Hepatomegaly0LPIN2 CL E G H966377297ORPHA181514450605519
HP:0002240HP:0002240Hepatomegaly0LRP5 CL E G H40412924Hypoplastic thumbs hydranencephalyORPHA113546697603506
HP:0002240HP:0002240Hepatomegaly0LYST CL E G H1130167ORPHA117541968606897
HP:0002240HP:0002240Hepatomegaly0LYST CL E G H1130214500Ch├ędiak-Higashi syndrome214500C0007965OMIM117541968606897
HP:0002240HP:0002240Hepatomegaly0LYZ CL E G H4069105200Familial visceral amyloidosis, Ostertag type105200C0268389OMIM1676740153450
HP:0002240HP:0002240Hepatomegaly0LZTR1 CL E G H8216648ORPHA124086742600574
HP:0002240HP:0002240Hepatomegaly0MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM110156826609458
HP:0002240HP:0002240Hepatomegaly0MARS CL E G H4141615486Interstitial lung and liver disease615486C4225400OMIM16898156560
HP:0002240HP:0002240Hepatomegaly0MCM4 CL E G H4173609981Natural killer cell and glucocorticoid deficiency with DNA repair defect609981C1864947OMIM13706947602638
HP:0002240HP:0002240Hepatomegaly0MEFV CL E G H4210249100Familial Mediterranean fever249100C0031069OMIM19156998608107
HP:0002240HP:0002240Hepatomegaly0MET CL E G H423333402ORPHA126827029164860
HP:0002240HP:0002240Hepatomegaly0MFN2 CL E G H99272398Froster Iskenius Waterson syndromeORPHA1106316877608507
HP:0002240HP:0002240Hepatomegaly0MMAA CL E G H166785251100Methylmalonic aciduria cblA type251100C1855109OMIM141818871607481
HP:0002240HP:0002240Hepatomegaly0MMAB CL E G H326625251110Methylmalonic aciduria cblB type251110C1855102OMIM140819331607568
HP:0002240HP:0002240Hepatomegaly0MMUT CL E G H4594289916ORPHA17717526609058
HP:0002240HP:0002240Hepatomegaly0MMUT CL E G H4594251000Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency251000C1855114OMIM17717526609058
HP:0002240HP:0002240Hepatomegaly0MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM134624862601336
HP:0002240HP:0002240Hepatomegaly0MPC1 CL E G H51660614741Mitochondrial pyruvate carrier deficiency614741C3553607OMIM18721606614738
HP:0002240HP:0002240Hepatomegaly0MPI CL E G H4351602579Congenital disorder of glycosylation type 1B602579C1865145OMIM13267216154550
HP:0002240HP:0002240Hepatomegaly0MPL CL E G H4352729Anti-factor 8 autoimmunizationORPHA14477217159530
HP:0002240HP:0002240Hepatomegaly0MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM12007224137960
HP:0002240HP:0002240Hepatomegaly0MRPL3 CL E G H11222614582Combined oxidative phosphorylation deficiency 9614582C3281234OMIM18410379607118
HP:0002240HP:0002240Hepatomegaly0MRPS7 CL E G H51081617872COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34617872CN807947OMIM17014499611974
HP:0002240HP:0002240Hepatomegaly0MST1 CL E G H4485171Le Marec Bracq Picaud syndromeORPHA1177380142408
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 H4598343ORPHA14707530251170
HP:0002240HP:0002240Hepatomegaly0NAGA CL E G H466879281ORPHA11837631104170
HP:0002240HP:0002240Hepatomegaly0NAGLU CL E G H4669252920Mucopolysaccharidosis, MPS-III-B252920C0086648OMIM17757632609701
HP:0002240HP:0002240Hepatomegaly0NCF1 CL E G H653361379ORPHA1997660608512
HP:0002240HP:0002240Hepatomegaly0NCF1 CL E G H653361233700Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1233700C1856251OMIM1997660608512
HP:0002240HP:0002240Hepatomegaly0NCF2 CL E G H4688379ORPHA13777661608515
HP:0002240HP:0002240Hepatomegaly0NCF2 CL E G H4688233710Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2233710C1856245OMIM13777661608515
HP:0002240HP:0002240Hepatomegaly0NCF4 CL E G H4689379ORPHA12797662601488
HP:0002240HP:0002240Hepatomegaly0NDUFAF1 CL E G H51103618234MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11618234OMIM110818828606934
HP:0002240HP:0002240Hepatomegaly0NEK8 CL E G H284086615415Renal-hepatic-pancreatic dysplasia 2615415C3809434OMIM119713387609799
HP:0002240HP:0002240Hepatomegaly0NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11477758608272
HP:0002240HP:0002240Hepatomegaly0NHLRC2 CL E G H374354618278618278618278OMIM141247310
HP:0002240HP:0002240Hepatomegaly0NLRC4 CL E G H584841451ORPHA149916412606831
HP:0002240HP:0002240Hepatomegaly0NLRP3 CL E G H1145481451ORPHA175216400606416
HP:0002240HP:0002240Hepatomegaly0NLRP3 CL E G H114548575Aicardi Goutieres syndromeC0393591ORPHA175216400606416
HP:0002240HP:0002240Hepatomegaly0NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM118314537601015
HP:0002240HP:0002240Hepatomegaly0NPHP3 CL E G H27031208540Renal-hepatic-pancreatic dysplasia208540C2673883OMIM18867907608002
HP:0002240HP:0002240Hepatomegaly0NRAS CL E G H4893648ORPHA12507989164790
HP:0002240HP:0002240Hepatomegaly0NRAS CL E G H4893614470RAS-associated autoimmune leukoproliferative disorder614470C2674723OMIM12507989164790
HP:0002240HP:0002240Hepatomegaly0OCLN CL E G H100506658251290Band-like calcification with simplified gyration and polymicrogyria251290C3489725OMIM11038104602876
HP:0002240HP:0002240Hepatomegaly0OSTM1 CL E G H28962259720Osteopetrosis, autosomal recessive 5259720C1968603OMIM121821652607649
HP:0002240HP:0002240Hepatomegaly0PC CL E G H5091266150Pyruvate carboxylase deficiency266150C0034341OMIM18288636608786
HP:0002240HP:0002240Hepatomegaly0PCCA CL E G H509535ORPHA19088653232000
HP:0002240HP:0002240Hepatomegaly0PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM19088653232000
HP:0002240HP:0002240Hepatomegaly0PCCB CL E G H509635ORPHA17348654232050
HP:0002240HP:0002240Hepatomegaly0PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM17348654232050
HP:0002240HP:0002240Hepatomegaly0PCK1 CL E G H5105261680Phosphoenolpyruvate carboxykinase deficiency, cytosolic261680C1849814OMIM11708724614168
HP:0002240HP:0002240Hepatomegaly0PDGFB CL E G H51551980ORPHA11058800190040
HP:0002240HP:0002240Hepatomegaly0PDGFRA CL E G H5156607685Idiopathic hypereosinophilic syndrome607685C0206141OMIM124248803173490
HP:0002240HP:0002240Hepatomegaly0PDGFRB CL E G H51591980ORPHA13458804173410
HP:0002240HP:0002240Hepatomegaly0PEPD CL E G H5184170100Prolidase deficiency170100C0268532OMIM13628840613230
HP:0002240HP:0002240Hepatomegaly0PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15540038614770
HP:0002240HP:0002240Hepatomegaly0PEX1 CL E G H5189912ORPHA112058850602136
HP:0002240HP:0002240Hepatomegaly0PEX1 CL E G H5189772ORPHA112058850602136
HP:0002240HP:0002240Hepatomegaly0PEX1 CL E G H5189601539Peroxisome biogenesis disorder 1B601539CN168921OMIM112058850602136
HP:0002240HP:0002240Hepatomegaly0PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM112058850602136
HP:0002240HP:0002240Hepatomegaly0PEX10 CL E G H5192772ORPHA16548851602859
HP:0002240HP:0002240Hepatomegaly0PEX10 CL E G H5192912ORPHA16548851602859
HP:0002240HP:0002240Hepatomegaly0PEX10 CL E G H5192614870Peroxisome biogenesis disorder 6A614870C3553947OMIM16548851602859
HP:0002240HP:0002240Hepatomegaly0PEX11B CL E G H8799912ORPHA13508853603867
HP:0002240HP:0002240Hepatomegaly0PEX11B CL E G H8799772ORPHA13508853603867
HP:0002240HP:0002240Hepatomegaly0PEX12 CL E G H5193772ORPHA13608854601758
HP:0002240HP:0002240Hepatomegaly0PEX12 CL E G H5193912ORPHA13608854601758
HP:0002240HP:0002240Hepatomegaly0PEX12 CL E G H5193266510Infantile Refsum's disease266510C0282527OMIM13608854601758
HP:0002240HP:0002240Hepatomegaly0PEX12 CL E G H5193614859Peroxisome biogenesis disorder 3A614859C3553929OMIM13608854601758
HP:0002240HP:0002240Hepatomegaly0PEX13 CL E G H5194912ORPHA13978855601789
HP:0002240HP:0002240Hepatomegaly0PEX13 CL E G H5194772ORPHA13978855601789
HP:0002240HP:0002240Hepatomegaly0PEX14 CL E G H5195772ORPHA13748856601791
HP:0002240HP:0002240Hepatomegaly0PEX14 CL E G H5195912ORPHA13748856601791
HP:0002240HP:0002240Hepatomegaly0PEX14 CL E G H5195614887Peroxisome biogenesis disorder 13A614887C3554004OMIM13748856601791
HP:0002240HP:0002240Hepatomegaly0PEX16 CL E G H9409912ORPHA13468857603360
HP:0002240HP:0002240Hepatomegaly0PEX16 CL E G H9409772ORPHA13468857603360
HP:0002240HP:0002240Hepatomegaly0PEX16 CL E G H9409614876Peroxisome biogenesis disorder 8A614876C3553959OMIM13468857603360
HP:0002240HP:0002240Hepatomegaly0PEX19 CL E G H5824772ORPHA13049713600279
HP:0002240HP:0002240Hepatomegaly0PEX19 CL E G H5824912ORPHA13049713600279
HP:0002240HP:0002240Hepatomegaly0PEX2 CL E G H5828912ORPHA13669717170993
HP:0002240HP:0002240Hepatomegaly0PEX2 CL E G H5828772ORPHA13669717170993
HP:0002240HP:0002240Hepatomegaly0PEX2 CL E G H5828614866Peroxisome biogenesis disorder 5a (zellweger)614866C3553940OMIM13669717170993
HP:0002240HP:0002240Hepatomegaly0PEX26 CL E G H55670772ORPHA143122965608666
HP:0002240HP:0002240Hepatomegaly0PEX26 CL E G H55670912ORPHA143122965608666
HP:0002240HP:0002240Hepatomegaly0PEX26 CL E G H55670614872Peroxisome biogenesis disorder 7A614872C3539168OMIM143122965608666
HP:0002240HP:0002240Hepatomegaly0PEX3 CL E G H8504912ORPHA12718858603164
HP:0002240HP:0002240Hepatomegaly0PEX3 CL E G H8504772ORPHA12718858603164
HP:0002240HP:0002240Hepatomegaly0PEX3 CL E G H8504614882Peroxisome biogenesis disorder 10A614882C3553999OMIM12718858603164
HP:0002240HP:0002240Hepatomegaly0PEX5 CL E G H5830772ORPHA16899719600414
HP:0002240HP:0002240Hepatomegaly0PEX5 CL E G H5830912ORPHA16899719600414
HP:0002240HP:0002240Hepatomegaly0PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM16899719600414
HP:0002240HP:0002240Hepatomegaly0PEX6 CL E G H5190912ORPHA110858859601498
HP:0002240HP:0002240Hepatomegaly0PEX6 CL E G H5190772ORPHA110858859601498
HP:0002240HP:0002240Hepatomegaly0PEX6 CL E G H5190614862Peroxisome biogenesis disorder 4a (zellweger)614862C3553936OMIM110858859601498
HP:0002240HP:0002240Hepatomegaly0PEX6 CL E G H5190614863Peroxisome biogenesis disorder 4B614863C3553937OMIM110858859601498
HP:0002240HP:0002240Hepatomegaly0PHKA2 CL E G H5256306000Glycogen storage disease type IXa1306000C0017927OMIM15078926300798
HP:0002240HP:0002240Hepatomegaly0PHKB CL E G H5257261750Glycogen storage disease IXb261750C0543514OMIM13718927172490
HP:0002240HP:0002240Hepatomegaly0PHKG2 CL E G H5261613027Glycogen storage disease IXc613027C2751643OMIM11718931172471
HP:0002240HP:0002240Hepatomegaly0PIGM CL E G H93183610293Glycosylphosphatidylinositol deficiency610293C1853205OMIM15618858610273
HP:0002240HP:0002240Hepatomegaly0PKHD1 CL E G H5314263200Autosomal recessive polycystic kidney disease263200C0085548OMIM133979016606702
HP:0002240HP:0002240Hepatomegaly0PLAGL1 CL E G H532596191ORPHA1329046603044
HP:0002240HP:0002240Hepatomegaly0PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM16099115601785
HP:0002240HP:0002240Hepatomegaly0PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM144330802609059
HP:0002240HP:0002240Hepatomegaly0POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM138589175174761
HP:0002240HP:0002240Hepatomegaly0POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM119179179174763
HP:0002240HP:0002240Hepatomegaly0PPARG CL E G H546879083ORPHA11399236601487
HP:0002240HP:0002240Hepatomegaly0PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11399236601487
HP:0002240HP:0002240Hepatomegaly0PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM14049360170280
HP:0002240HP:0002240Hepatomegaly0PRKCD CL E G H5580615559Autoimmune lymphoproliferative syndrome, type III615559C3809928OMIM13459399176977
HP:0002240HP:0002240Hepatomegaly0PRKCSH CL E G H55892924Hypoplastic thumbs hydranencephalyORPHA12119411177060
HP:0002240HP:0002240Hepatomegaly0PSAP CL E G H5660139406ORPHA15989498176801
HP:0002240HP:0002240Hepatomegaly0PSAP CL E G H5660611721Combined saposin deficiency611721C2673635OMIM15989498176801
HP:0002240HP:0002240Hepatomegaly0PSMB8 CL E G H56962615ORPHA11619545177046
HP:0002240HP:0002240Hepatomegaly0PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM11619545177046
HP:0002240HP:0002240Hepatomegaly0PTPN11 CL E G H5781648ORPHA17169644176876
HP:0002240HP:0002240Hepatomegaly0PTPRC CL E G H5788608971Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive608971C1837028OMIM15559666151460
HP:0002240HP:0002240Hepatomegaly0PTRH2 CL E G H51651616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset616263C4015728OMIM14124265608625
HP:0002240HP:0002240Hepatomegaly0RAB27A CL E G H587379477ORPHA12609766603868
HP:0002240HP:0002240Hepatomegaly0RAF1 CL E G H5894648ORPHA18279829164760
HP:0002240HP:0002240Hepatomegaly0RAG1 CL E G H589639041ORPHA15219831179615
HP:0002240HP:0002240Hepatomegaly0RAG1 CL E G H5896603554Histiocytic medullary reticulosis603554C1801959OMIM15219831179615
HP:0002240HP:0002240Hepatomegaly0RAG2 CL E G H589739041ORPHA13629832179616
HP:0002240HP:0002240Hepatomegaly0RAG2 CL E G H5897603554Histiocytic medullary reticulosis603554C1801959OMIM13629832179616
HP:0002240HP:0002240Hepatomegaly0RASA2 CL E G H5922648ORPHA13719872601589
HP:0002240HP:0002240Hepatomegaly0RFT1 CL E G H91869244310ORPHA139930220611908
HP:0002240HP:0002240Hepatomegaly0RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM139930220611908
HP:0002240HP:0002240Hepatomegaly0RHAG CL E G H6005185000Stomatocytosis I185000C1861455OMIM16410006180297
HP:0002240HP:0002240Hepatomegaly0RHBDF2 CL E G H796512198ORPHA117620788614404
HP:0002240HP:0002240Hepatomegaly0RIT1 CL E G H6016648ORPHA121010023609591
HP:0002240HP:0002240Hepatomegaly0RMRP CL E G H602339041ORPHA162510031157660
HP:0002240HP:0002240Hepatomegaly0RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM131418518606034
HP:0002240HP:0002240Hepatomegaly0RNU4ATAC CL E G H100151683616651Roifman syndrome616651C1846059OMIM121434016601428
HP:0002240HP:0002240Hepatomegaly0RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1113529168610937
HP:0002240HP:0002240Hepatomegaly0RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA1113529168610937
HP:0002240HP:0002240Hepatomegaly0RRAS CL E G H6237648ORPHA121310447165090
HP:0002240HP:0002240Hepatomegaly0SAA1 CL E G H628885445ORPHA12810513104750
HP:0002240HP:0002240Hepatomegaly0SBDS CL E G H51119260400Shwachman syndrome260400C0272170OMIM110219440607444
HP:0002240HP:0002240Hepatomegaly0SC5D CL E G H630946059ORPHA122010547602286
HP:0002240HP:0002240Hepatomegaly0SCARB2 CL E G H95077259ORPHA14221665602257
HP:0002240HP:0002240Hepatomegaly0SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM116110603603644
HP:0002240HP:0002240Hepatomegaly0SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM17314372607982
HP:0002240HP:0002240Hepatomegaly0SEC63 CL E G H112312924Hypoplastic thumbs hydranencephalyORPHA134321082608648
HP:0002240HP:0002240Hepatomegaly0SEC63 CL E G H11231617004Polycystic liver disease 2617004C4310769OMIM134321082608648
HP:0002240HP:0002240Hepatomegaly0SERPINA1 CL E G H526560ORPHA13778941107400
HP:0002240HP:0002240Hepatomegaly0SGSH CL E G H6448252900Mucopolysaccharidosis, MPS-III-A252900C0086647OMIM196310818605270
HP:0002240HP:0002240Hepatomegaly0SH2D1A CL E G H40682442ORPHA128110820300490
HP:0002240HP:0002240Hepatomegaly0SH2D1A CL E G H4068308240Lymphoproliferative syndrome 1, X-linked308240C1868674OMIM128110820300490
HP:0002240HP:0002240Hepatomegaly0SKIV2L CL E G H6499614602Trichohepatoenteric syndrome 2614602C3281289OMIM110898600478
HP:0002240HP:0002240Hepatomegaly0SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM141110933604322
HP:0002240HP:0002240Hepatomegaly0SLC20A2 CL E G H65751980ORPHA128110947158378
HP:0002240HP:0002240Hepatomegaly0SLC22A5 CL E G H6584158ORPHA187410969603377
HP:0002240HP:0002240Hepatomegaly0SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM187410969603377
HP:0002240HP:0002240Hepatomegaly0SLC25A15 CL E G H10166238970Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome238970C0268540OMIM134310985603861
HP:0002240HP:0002240Hepatomegaly0SLC25A19 CL E G H60386607196Amish lethal microcephaly607196C1846648OMIM113614409606521
HP:0002240HP:0002240Hepatomegaly0SLC25A20 CL E G H788159ORPHA11451421613698
HP:0002240HP:0002240Hepatomegaly0SLC25A20 CL E G H788212138Carnitine acylcarnitine translocase deficiency212138C0342791OMIM11451421613698
HP:0002240HP:0002240Hepatomegaly0SLC29A3 CL E G H55315602782Histiocytosis-lymphadenopathy plus syndrome602782C1864445OMIM134523096612373
HP:0002240HP:0002240Hepatomegaly0SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM182711005138140
HP:0002240HP:0002240Hepatomegaly0SLC30A10 CL E G H55532309854ORPHA118825355611146
HP:0002240HP:0002240Hepatomegaly0SLC30A10 CL E G H55532613280Hypermanganesemia with dystonia 1613280OMIM118825355611146
HP:0002240HP:0002240Hepatomegaly0SLC37A4 CL E G H2542232220Glucose-6-phosphate transport defect232220C0268146OMIM18194061602671
HP:0002240HP:0002240Hepatomegaly0SLC37A4 CL E G H2542232240Phosphate transport defect232240C0342749OMIM18194061602671
HP:0002240HP:0002240Hepatomegaly0SLC39A4 CL E G H55630201100Hereditary acrodermatitis enteropathica201100C0221036OMIM159917129607059
HP:0002240HP:0002240Hepatomegaly0SLC7A7 CL E G H9056222700Lysinuric protein intolerance222700C0268647OMIM152811065603593
HP:0002240HP:0002240Hepatomegaly0SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM174711120607608
HP:0002240HP:0002240Hepatomegaly0SMPD1 CL E G H6609607616Niemann-Pick disease, type B607616C0268243OMIM174711120607608
HP:0002240HP:0002240Hepatomegaly0SNX10 CL E G H29887667ORPHA111114974614780
HP:0002240HP:0002240Hepatomegaly0SNX10 CL E G H29887615085Osteopetrosis, autosomal recessive 8615085C3554478OMIM111114974614780
HP:0002240HP:0002240Hepatomegaly0SOS1 CL E G H6654648ORPHA1122411187182530
HP:0002240HP:0002240Hepatomegaly0SOS2 CL E G H6655648ORPHA191611188601247
HP:0002240HP:0002240Hepatomegaly0SP110 CL E G H343179124ORPHA13415401604457
HP:0002240HP:0002240Hepatomegaly0SRP54 CL E G H6729260400Shwachman syndrome260400C0272170OMIM114511301604857
HP:0002240HP:0002240Hepatomegaly0STEAP3 CL E G H55240615234Hypochromic microcytic anemia with iron overload 2615234C3808920OMIM15124592609671
HP:0002240HP:0002240Hepatomegaly0SUMF1 CL E G H285362585ORPHA156420376607939
HP:0002240HP:0002240Hepatomegaly0SUMF1 CL E G H285362272200Multiple sulfatase deficiency272200C0268263OMIM156420376607939
HP:0002240HP:0002240Hepatomegaly0TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM18324316612958
HP:0002240HP:0002240Hepatomegaly0TALDO1 CL E G H6888606003Deficiency of transaldolase606003C1291329OMIM113211559602063
HP:0002240HP:0002240Hepatomegaly0TCF4 CL E G H6925171Le Marec Bracq Picaud syndromeORPHA191311634602272
HP:0002240HP:0002240Hepatomegaly0TCIRG1 CL E G H10312667ORPHA186011647604592
HP:0002240HP:0002240Hepatomegaly0TCIRG1 CL E G H10312259700Osteopetrosis autosomal recessive 1259700C1850127OMIM186011647604592
HP:0002240HP:0002240Hepatomegaly0TET2 CL E G H54790729Anti-factor 8 autoimmunizationORPHA111525941612839
HP:0002240HP:0002240Hepatomegaly0TMEM165 CL E G H55858614727Congenital disorder of glycosylation type 2k614727C3553571OMIM112230760614726
HP:0002240HP:0002240Hepatomegaly0TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM167428396609884
HP:0002240HP:0002240Hepatomegaly0TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA167428396609884
HP:0002240HP:0002240Hepatomegaly0TMEM70 CL E G H549681194ORPHA125226050612418
HP:0002240HP:0002240Hepatomegaly0TNFRSF13B CL E G H23495240500Common variable immunodeficiency 2240500C3150354OMIM134118153604907
HP:0002240HP:0002240Hepatomegaly0TNFRSF13C CL E G H115650240500Common variable immunodeficiency 2240500C3150354OMIM113817755606269
HP:0002240HP:0002240Hepatomegaly0TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA15711917191191
HP:0002240HP:0002240Hepatomegaly0TNFSF11 CL E G H8600667ORPHA119911926602642
HP:0002240HP:0002240Hepatomegaly0TRAPPC11 CL E G H60684369840ORPHA177425751614138
HP:0002240HP:0002240Hepatomegaly0TRIM37 CL E G H45912576Grubben de Cock Borghgraef syndromeORPHA12657523605073
HP:0002240HP:0002240Hepatomegaly0TRIM37 CL E G H4591253250Mulibrey nanism syndrome253250C0524582OMIM12657523605073
HP:0002240HP:0002240Hepatomegaly0TRMU CL E G H55687613070Liver failure acute infantile613070C3278664OMIM151825481610230
HP:0002240HP:0002240Hepatomegaly0TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM130212367604723
HP:0002240HP:0002240Hepatomegaly0TTC37 CL E G H9652222470Trichohepatoenteric syndrome 1222470CN034858OMIM123639614589
HP:0002240HP:0002240Hepatomegaly0TUFM CL E G H7284610678Combined oxidative phosphorylation deficiency 4610678C1857682OMIM127312420602389
HP:0002240HP:0002240Hepatomegaly0UCP2 CL E G H7351276556ORPHA15112518601693
HP:0002240HP:0002240Hepatomegaly0USP18 CL E G H11274617397Pseudo-torch syndrome 2617397C4479376OMIM114912616607057
HP:0002240HP:0002240Hepatomegaly0VPS33A CL E G H65082617303Mucopolysaccharidosis-plus syndrome617303C4310627OMIM116518179610034
HP:0002240HP:0002240Hepatomegaly0VPS45 CL E G H11311615285Severe congenital neutropenia 5, autosomal recessive615285C3809031OMIM133914579610035
HP:0002240HP:0002240Hepatomegaly0WDR35 CL E G H57539613610Cranioectodermal dysplasia 2613610C3150874OMIM152329250613602
HP:0002240HP:0002240Hepatomegaly0WT1 CL E G H749083469ORPHA1114612796607102
HP:0002240HP:0002240Hepatomegaly0XIAP CL E G H3312442ORPHA1454592300079
HP:0002240HP:0002240Hepatomegaly0XIAP CL E G H331308240Lymphoproliferative syndrome 1, X-linked308240C1868674OMIM1454592300079
HP:0002240HP:0002240Hepatomegaly0XPR1 CL E G H92131980ORPHA116712827605237
HP:0002240HP:0002240Hepatomegaly0ZAP70 CL E G H7535269840Severe combined immunodeficiency, atypical269840C1849236OMIM134512858176947
HP:0002240HP:0006564Fluctuating hepatomegaly1 CL E G H105259599130650Beckwith-Wiedemann syndrome130650C0004903OMIM1280
HP:0002240HP:0006564Fluctuating hepatomegaly1A2ML1 CL E G H144568648ORPHA1114623336610627
HP:0002240HP:0006564Fluctuating hepatomegaly1ABCA1 CL E G H19205400Tangier disease205400C0039292OMIM199329600046
HP:0002240HP:0006564Fluctuating hepatomegaly1ABCB11 CL E G H8647605479Benign recurrent intrahepatic cholestasis 2605479C2608083OMIM196742603201
HP:0002240HP:0006564Fluctuating hepatomegaly1ABCB11 CL E G H8647601847Progressive familial intrahepatic cholestasis 2601847C3489789OMIM196742603201
HP:0002240HP:0006564Fluctuating hepatomegaly1ABCB4 CL E G H5244602347Progressive familial intrahepatic cholestasis 3602347C1865643OMIM145345171060
HP:0002240HP:0006564Fluctuating hepatomegaly1ABCC8 CL E G H6833276575ORPHA1156959600509
HP:0002240HP:0006564Fluctuating hepatomegaly1ABCD3 CL E G H5825616278Bile acid synthesis defect, congenital, 5616278C4225390OMIM15067170995
HP:0002240HP:0006564Fluctuating hepatomegaly1ABHD5 CL E G H5109998907ORPHA119421396604780
HP:0002240HP:0006564Fluctuating hepatomegaly1ABHD5 CL E G H51099275630Triglyceride storage disease with ichthyosis275630C0268238OMIM119421396604780
HP:0002240HP:0006564Fluctuating hepatomegaly1ACADL CL E G H3399900ORPHA13888609576
HP:0002240HP:0006564Fluctuating hepatomegaly1ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM163589607008
HP:0002240HP:0006564Fluctuating hepatomegaly1ACADVL CL E G H37201475Very long chain acyl-CoA dehydrogenase deficiency201475C3887523OMIM1129792609575
HP:0002240HP:0006564Fluctuating hepatomegaly1ACOX1 CL E G H512971ORPHA1517119609751
HP:0002240HP:0006564Fluctuating hepatomegaly1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM1517119609751
HP:0002240HP:0006564Fluctuating hepatomegaly1ADA CL E G H10039041ORPHA1448186608958
HP:0002240HP:0006564Fluctuating hepatomegaly1ADA CL E G H100102700Severe combined immunodeficiency due to ADA deficiency102700C1863236OMIM1448186608958
HP:0002240HP:0006564Fluctuating hepatomegaly1ADAMTSL2 CL E G H9719231050Geleophysic dysplasia 1231050C3278147OMIM124714631612277
HP:0002240HP:0006564Fluctuating hepatomegaly1AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1413318613228
HP:0002240HP:0006564Fluctuating hepatomegaly1AGL CL E G H178232400Glycogen storage disease type III232400C0017922OMIM11774321610860
HP:0002240HP:0006564Fluctuating hepatomegaly1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1213325603100
HP:0002240HP:0006564Fluctuating hepatomegaly1AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1213325603100
HP:0002240HP:0006564Fluctuating hepatomegaly1AKR1D1 CL E G H671879303ORPHA1204388604741
HP:0002240HP:0006564Fluctuating hepatomegaly1AKR1D1 CL E G H6718235555Bile acid synthesis defect, congenital, 2235555C1856127OMIM1204388604741
HP:0002240HP:0006564Fluctuating hepatomegaly1AKT2 CL E G H20879085ORPHA1115392164731
HP:0002240HP:0006564Fluctuating hepatomegaly1ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM1371417612724
HP:0002240HP:0006564Fluctuating hepatomegaly1ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM149518294605907
HP:0002240HP:0006564Fluctuating hepatomegaly1ALG13 CL E G H79868300884Epileptic encephalopathy, early infantile, 36300884C3550904OMIM180330881300776
HP:0002240HP:0006564Fluctuating hepatomegaly1ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM126223159607905
HP:0002240HP:0006564Fluctuating hepatomegaly1ALG8 CL E G H79053608104Congenital disorder of glycosylation type 1H608104C2931002OMIM122523161608103
HP:0002240HP:0006564Fluctuating hepatomegaly1ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM14321428606844
HP:0002240HP:0006564Fluctuating hepatomegaly1AMACR CL E G H23600214950Bile acid synthesis defect, congenital, 4214950C1858328OMIM1290451604489
HP:0002240HP:0006564Fluctuating hepatomegaly1AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM1532566603401
HP:0002240HP:0006564Fluctuating hepatomegaly1AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1596568607246
HP:0002240HP:0006564Fluctuating hepatomegaly1APOA1 CL E G H335105200Familial visceral amyloidosis, Ostertag type105200C0268389OMIM1192600107680
HP:0002240HP:0006564Fluctuating hepatomegaly1APOC2 CL E G H344207750Apolipoprotein C2 deficiency207750C1720779OMIM187609608083
HP:0002240HP:0006564Fluctuating hepatomegaly1APOE CL E G H348412ORPHA1136613107741
HP:0002240HP:0006564Fluctuating hepatomegaly1APOE CL E G H348158029ORPHA1136613107741
HP:0002240HP:0006564Fluctuating hepatomegaly1APOPT1 CL E G H84334436271ORPHA115220492616003
HP:0002240HP:0006564Fluctuating hepatomegaly1APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM115220492616003
HP:0002240HP:0006564Fluctuating hepatomegaly1ARSB CL E G H411253200Mucopolysaccharidosis type VI253200C0026709OMIM1692714611542
HP:0002240HP:0006564Fluctuating hepatomegaly1ASAH1 CL E G H427333ORPHA1712735613468
HP:0002240HP:0006564Fluctuating hepatomegaly1ASAH1 CL E G H427228000Farber disease228000C0268255OMIM1712735613468
HP:0002240HP:0006564Fluctuating hepatomegaly1ASL CL E G H435207900Argininosuccinate lyase deficiency207900C0268547OMIM1554746608310
HP:0002240HP:0006564Fluctuating hepatomegaly1ASS1 CL E G H445215700Citrullinemia type I215700C0175683OMIM1571758603470
HP:0002240HP:0006564Fluctuating hepatomegaly1ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM1319868300197
HP:0002240HP:0006564Fluctuating hepatomegaly1ATP7B CL E G H540905ORPHA11806870606882
HP:0002240HP:0006564Fluctuating hepatomegaly1ATP7B CL E G H540277900Wilson disease277900C0019202OMIM11806870606882
HP:0002240HP:0006564Fluctuating hepatomegaly1ATP8B1 CL E G H5205243300Cholestasis, benign recurrent intrahepatic 1243300C1855731OMIM15093706602397
HP:0002240HP:0006564Fluctuating hepatomegaly1ATP8B1 CL E G H5205211600Progressive intrahepatic cholestasis211600C0268312OMIM15093706602397
HP:0002240HP:0006564Fluctuating hepatomegaly1ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM122818802608918
HP:0002240HP:0006564Fluctuating hepatomegaly1B2M CL E G H567105200Familial visceral amyloidosis, Ostertag type105200C0268389OMIM145914109700
HP:0002240HP:0006564Fluctuating hepatomegaly1BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM17624415613183
HP:0002240HP:0006564Fluctuating hepatomegaly1BRAF CL E G H673648ORPHA19481097164757
HP:0002240HP:0006564Fluctuating hepatomegaly1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA143515832606158
HP:0002240HP:0006564Fluctuating hepatomegaly1BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM143515832606158
HP:0002240HP:0006564Fluctuating hepatomegaly1BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM14561122609019
HP:0002240HP:0006564Fluctuating hepatomegaly1C15orf41 CL E G H84529615631ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib615631C3810185OMIM126929615626
HP:0002240HP:0006564Fluctuating hepatomegaly1CA2 CL E G H7602785ORPHA11421373611492
HP:0002240HP:0006564Fluctuating hepatomegaly1CASP10 CL E G H843603909Autoimmune lymphoproliferative syndrome, type 2A603909C1858968OMIM13851500601762
HP:0002240HP:0006564Fluctuating hepatomegaly1CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA120391514601199
HP:0002240HP:0006564Fluctuating hepatomegaly1CASR CL E G H846239200Neonatal severe hyperparathyroidism239200C1832615OMIM120391514601199
HP:0002240HP:0006564Fluctuating hepatomegaly1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA11151527601047
HP:0002240HP:0006564Fluctuating hepatomegaly1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11129688603198
HP:0002240HP:0006564Fluctuating hepatomegaly1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11129688603198
HP:0002240HP:0006564Fluctuating hepatomegaly1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1117629253612013
HP:0002240HP:0006564Fluctuating hepatomegaly1CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA1117629253612013
HP:0002240HP:0006564Fluctuating hepatomegaly1CCDC115 CL E G H84317616828CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo616828C4225191OMIM17028178613734
HP:0002240HP:0006564Fluctuating hepatomegaly1CD19 CL E G H930240500Common variable immunodeficiency 2240500C3150354OMIM13251633107265
HP:0002240HP:0006564Fluctuating hepatomegaly1CD27 CL E G H939615122Lymphoproliferative syndrome 2615122C3554540OMIM118111922186711
HP:0002240HP:0006564Fluctuating hepatomegaly1CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA1331653186760
HP:0002240HP:0006564Fluctuating hepatomegaly1CD40LG CL E G H959308230Immunodeficiency with hyper IgM type 1308230C0398689OMIM133911935300386
HP:0002240HP:0006564Fluctuating hepatomegaly1CD55 CL E G H1604226300Protein-losing enteropathy226300C0033680OMIM11372665125240
HP:0002240HP:0006564Fluctuating hepatomegaly1CD96 CL E G H10225211750C syndrome211750C0796095OMIM17216892606037
HP:0002240HP:0006564Fluctuating hepatomegaly1CDKN1C CL E G H1028130650Beckwith-Wiedemann syndrome130650C0004903OMIM19121786600856
HP:0002240HP:0006564Fluctuating hepatomegaly1CHD7 CL E G H5563639041ORPHA1231820626608892
HP:0002240HP:0006564Fluctuating hepatomegaly1CIDEC CL E G H63924435651ORPHA18124229612120
HP:0002240HP:0006564Fluctuating hepatomegaly1CIDEC CL E G H63924615238Familial partial lipodystrophy 5615238C3808940OMIM18124229612120
HP:0002240HP:0006564Fluctuating hepatomegaly1CLCN7 CL E G H1186667ORPHA17292025602727
HP:0002240HP:0006564Fluctuating hepatomegaly1CLDN1 CL E G H907659303ORPHA1922032603718
HP:0002240HP:0006564Fluctuating hepatomegaly1CLDN1 CL E G H9076607626Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis607626C1843355OMIM1922032603718
HP:0002240HP:0006564Fluctuating hepatomegaly1COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13225716615623
HP:0002240HP:0006564Fluctuating hepatomegaly1COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM129618622606978
HP:0002240HP:0006564Fluctuating hepatomegaly1COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12932260602125
HP:0002240HP:0006564Fluctuating hepatomegaly1COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12828216614478
HP:0002240HP:0006564Fluctuating hepatomegaly1COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM116226970614698
HP:0002240HP:0006564Fluctuating hepatomegaly1COX4I2 CL E G H84701612714Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis612714C2675184OMIM15516232607976
HP:0002240HP:0006564Fluctuating hepatomegaly1COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1522280124089
HP:0002240HP:0006564Fluctuating hepatomegaly1COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1232294123870
HP:0002240HP:0006564Fluctuating hepatomegaly1CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM12072321612732
HP:0002240HP:0006564Fluctuating hepatomegaly1CPT1A CL E G H1374156ORPHA16202328600528
HP:0002240HP:0006564Fluctuating hepatomegaly1CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM16202328600528
HP:0002240HP:0006564Fluctuating hepatomegaly1CPT2 CL E G H1376228308ORPHA17202330600650
HP:0002240HP:0006564Fluctuating hepatomegaly1CPT2 CL E G H1376228305ORPHA17202330600650
HP:0002240HP:0006564Fluctuating hepatomegaly1CPT2 CL E G H1376600649Carnitine palmitoyltransferase II deficiency, infantile600649C1833511OMIM17202330600650
HP:0002240HP:0006564Fluctuating hepatomegaly1CPT2 CL E G H1376608836Carnitine palmitoyltransferase II deficiency, lethal neonatal608836C1833518OMIM17202330600650
HP:0002240HP:0006564Fluctuating hepatomegaly1CR2 CL E G H1380240500Common variable immunodeficiency 2240500C3150354OMIM15162336120650
HP:0002240HP:0006564Fluctuating hepatomegaly1CTLA4 CL E G H1493616100Autoimmune lymphoproliferatiVe syndrome, type V616100C4015214OMIM11902505123890
HP:0002240HP:0006564Fluctuating hepatomegaly1CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA11902505123890
HP:0002240HP:0006564Fluctuating hepatomegaly1CTNNB1 CL E G H149933402ORPHA14682514116806
HP:0002240HP:0006564Fluctuating hepatomegaly1CTNS CL E G H1497219800Nephropathic cystinosis219800C0010690OMIM16512518606272
HP:0002240HP:0006564Fluctuating hepatomegaly1CYBA CL E G H1535379ORPHA13922577608508
HP:0002240HP:0006564Fluctuating hepatomegaly1CYBA CL E G H1535233690Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative233690C1856255OMIM13922577608508
HP:0002240HP:0006564Fluctuating hepatomegaly1CYBB CL E G H1536379ORPHA16392578300481
HP:0002240HP:0006564Fluctuating hepatomegaly1CYBB CL E G H1536306400Chronic granulomatous disease, X-linked306400C1844376OMIM16392578300481
HP:0002240HP:0006564Fluctuating hepatomegaly1CYBC1 CL E G H79415379ORPHA1110286720
HP:0002240HP:0006564Fluctuating hepatomegaly1CYP7B1 CL E G H942079302ORPHA13332652603711
HP:0002240HP:0006564Fluctuating hepatomegaly1CYP7B1 CL E G H9420613812Bile acid synthesis defect, congenital, 3613812C3151147OMIM13332652603711
HP:0002240HP:0006564Fluctuating hepatomegaly1DCDC2 CL E G H51473616217Nephronophthisis 19616217C4015542OMIM120118141605755
HP:0002240HP:0006564Fluctuating hepatomegaly1DCDC2 CL E G H51473617394Sclerosing cholangitis, neonatal617394C4479344OMIM120118141605755
HP:0002240HP:0006564Fluctuating hepatomegaly1DCLRE1C CL E G H6442139041ORPHA169817642605988
HP:0002240HP:0006564Fluctuating hepatomegaly1DCLRE1C CL E G H64421603554Histiocytic medullary reticulosis603554C1801959OMIM169817642605988
HP:0002240HP:0006564Fluctuating hepatomegaly1DDRGK1 CL E G H6599293352ORPHA18716110616177
HP:0002240HP:0006564Fluctuating hepatomegaly1DDRGK1 CL E G H65992602557Spondyloepimetaphyseal dysplasia Shohat type602557C1865185OMIM18716110616177
HP:0002240HP:0006564Fluctuating hepatomegaly1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM11672858601465
HP:0002240HP:0006564Fluctuating hepatomegaly1DGUOK CL E G H1716617068Portal hypertension, noncirrhotic617068C4310735OMIM11672858601465
HP:0002240HP:0006564Fluctuating hepatomegaly1DHDDS CL E G H79947613861Retinitis pigmentosa 59613861C3151227OMIM131820603608172
HP:0002240HP:0006564Fluctuating hepatomegaly1DHFR CL E G H1719613839Megaloblastic anemia due to dihydrofolate reductase deficiency613839C3151205OMIM14932861126060
HP:0002240HP:0006564Fluctuating hepatomegaly1DIS3L2 CL E G H1295632849ORPHA1171428648614184
HP:0002240HP:0006564Fluctuating hepatomegaly1DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA14222898238331
HP:0002240HP:0006564Fluctuating hepatomegaly1DNAJC21 CL E G H134218260400Shwachman syndrome260400C0272170OMIM123627030617048
HP:0002240HP:0006564Fluctuating hepatomegaly1DOLK CL E G H2284591131ORPHA142423406610746
HP:0002240HP:0006564Fluctuating hepatomegaly1DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM12033005603503
HP:0002240HP:0006564Fluctuating hepatomegaly1DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM141424595617083
HP:0002240HP:0006564Fluctuating hepatomegaly1EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA13593255604032
HP:0002240HP:0006564Fluctuating hepatomegaly1EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM13593255604032
HP:0002240HP:0006564Fluctuating hepatomegaly1ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM111703438609413
HP:0002240HP:0006564Fluctuating hepatomegaly1ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM13903439609412
HP:0002240HP:0006564Fluctuating hepatomegaly1ETFA CL E G H2108231680Glutaric aciduria, type 2231680C0268596OMIM13313481608053
HP:0002240HP:0006564Fluctuating hepatomegaly1ETFB CL E G H2109231680Glutaric aciduria, type 2231680C0268596OMIM11923482130410
HP:0002240HP:0006564Fluctuating hepatomegaly1ETFDH CL E G H2110231680Glutaric aciduria, type 2231680C0268596OMIM16073483231675
HP:0002240HP:0006564Fluctuating hepatomegaly1EWSR1 CL E G H213083469ORPHA1613508133450
HP:0002240HP:0006564Fluctuating hepatomegaly1F5 CL E G H2153131Myeloid sarcomaORPHA15133542612309
HP:0002240HP:0006564Fluctuating hepatomegaly1FAH CL E G H2184276700Tyrosinemia type I276700C0268490OMIM15053579613871
HP:0002240HP:0006564Fluctuating hepatomegaly1FAM111B CL E G H374393615704Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis615704C3810325OMIM13124200615584
HP:0002240HP:0006564Fluctuating hepatomegaly1FAS CL E G H355601859Autoimmune lymphoproliferative syndrome601859C1328840OMIM131311920134637
HP:0002240HP:0006564Fluctuating hepatomegaly1FASLG CL E G H356601859Autoimmune lymphoproliferative syndrome601859C1328840OMIM115811936134638
HP:0002240HP:0006564Fluctuating hepatomegaly1FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM131529160612322
HP:0002240HP:0006564Fluctuating hepatomegaly1FBN1 CL E G H2200614185Geleophysic dysplasia 2614185C3280054OMIM159703603134797
HP:0002240HP:0006564Fluctuating hepatomegaly1FBP1 CL E G H2203229700Fructose-biphosphatase deficiency229700C0016756OMIM11933606611570
HP:0002240HP:0006564Fluctuating hepatomegaly1FDX2 CL E G H112812251900Mitochondrial myopathy251900C0162670OMIM17330546614585
HP:0002240HP:0006564Fluctuating hepatomegaly1FERMT3 CL E G H83706612840Leukocyte adhesion deficiency, type III612840C2748536OMIM134323151607901
HP:0002240HP:0006564Fluctuating hepatomegaly1FGA CL E G H2243105200Familial visceral amyloidosis, Ostertag type105200C0268389OMIM11683661134820
HP:0002240HP:0006564Fluctuating hepatomegaly1FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA1293796164810
HP:0002240HP:0006564Fluctuating hepatomegaly1FUCA1 CL E G H2517230000Fucosidosis230000C0016788OMIM12224006612280
HP:0002240HP:0006564Fluctuating hepatomegaly1FUCA1 CL E G H2517349Neuroaxonal dystrophy renal tubular acidosisORPHA12224006612280
HP:0002240HP:0006564Fluctuating hepatomegaly1G6PC CL E G H2538232200Glycogen storage disease type 1A232200C2919796OMIM14056613742
HP:0002240HP:0006564Fluctuating hepatomegaly1G6PC3 CL E G H92579612541Severe congenital neutropenia 4, autosomal recessive612541C2675526OMIM121824861611045
HP:0002240HP:0006564Fluctuating hepatomegaly1GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM120684065606800
HP:0002240HP:0006564Fluctuating hepatomegaly1GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11534116606953
HP:0002240HP:0006564Fluctuating hepatomegaly1GALNS CL E G H2588253000Mucopolysaccharidosis, MPS-IV-A253000C0086651OMIM19444122612222
HP:0002240HP:0006564Fluctuating hepatomegaly1GALT CL E G H2592230400Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase230400C0268151OMIM16454135606999
HP:0002240HP:0006564Fluctuating hepatomegaly1GATA2 CL E G H26243226Lethal chondrodysplasia Seller typeORPHA111184171137295
HP:0002240HP:0006564Fluctuating hepatomegaly1GBA CL E G H262977259ORPHA14177606463
HP:0002240HP:0006564Fluctuating hepatomegaly1GBA CL E G H262985212ORPHA14177606463
HP:0002240HP:0006564Fluctuating hepatomegaly1GBA CL E G H262977260ORPHA14177606463
HP:0002240HP:0006564Fluctuating hepatomegaly1GBA CL E G H262977261ORPHA14177606463
HP:0002240HP:0006564Fluctuating hepatomegaly1GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14177606463
HP:0002240HP:0006564Fluctuating hepatomegaly1GBA CL E G H2629231005Gaucher disease type 3C231005C1856476OMIM14177606463
HP:0002240HP:0006564Fluctuating hepatomegaly1GBA CL E G H2629608013Gaucher disease, perinatal lethal608013C1842704OMIM14177606463
HP:0002240HP:0006564Fluctuating hepatomegaly1GBA CL E G H2629230800Gaucher's disease, type 1230800C1961835OMIM14177606463
HP:0002240HP:0006564Fluctuating hepatomegaly1GBA CL E G H2629231000Subacute neuronopathic Gaucher's disease231000C0268251OMIM14177606463
HP:0002240HP:0006564Fluctuating hepatomegaly1GCDH CL E G H2639231670Glutaric aciduria, type 1231670C0268595OMIM16004189608801
HP:0002240HP:0006564Fluctuating hepatomegaly1GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM149513780606639
HP:0002240HP:0006564Fluctuating hepatomegaly1GLB1 CL E G H2720230500Infantile GM1 gangliosidosis230500C0268271OMIM16964298611458
HP:0002240HP:0006564Fluctuating hepatomegaly1GLB1 CL E G H2720253010Mucopolysaccharidosis, MPS-IV-B253010C0086652OMIM16964298611458
HP:0002240HP:0006564Fluctuating hepatomegaly1GLIS3 CL E G H169792610199Diabetes mellitus, neonatal, with congenital hypothyroidism610199C1857775OMIM159328510610192
HP:0002240HP:0006564Fluctuating hepatomegaly1GLRX5 CL E G H51218616860Sideroblastic anemia 3, pyridoxine-refractory616860C4225155OMIM17720134609588
HP:0002240HP:0006564Fluctuating hepatomegaly1GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA178323657603824
HP:0002240HP:0006564Fluctuating hepatomegaly1GNE CL E G H10020269921Sialuria269921C0342853OMIM178323657603824
HP:0002240HP:0006564Fluctuating hepatomegaly1GNMT CL E G H27232606664Glycine N-methyltransferase deficiency606664C1847720OMIM1754415606628
HP:0002240HP:0006564Fluctuating hepatomegaly1GNPTAB CL E G H79158576ORPHA1100329670607840
HP:0002240HP:0006564Fluctuating hepatomegaly1GNPTAB CL E G H79158252500I cell disease252500C2673377OMIM1100329670607840
HP:0002240HP:0006564Fluctuating hepatomegaly1GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM14284422607664
HP:0002240HP:0006564Fluctuating hepatomegaly1GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA18554451300037
HP:0002240HP:0006564Fluctuating hepatomegaly1GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM18554451300037
HP:0002240HP:0006564Fluctuating hepatomegaly1GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA12144452300168
HP:0002240HP:0006564Fluctuating hepatomegaly1GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM12144452300168
HP:0002240HP:0006564Fluctuating hepatomegaly1GPD1 CL E G H2819614480Hypertriglyceridemia, transient infantile614480C3280953OMIM1764455138420
HP:0002240HP:0006564Fluctuating hepatomegaly1GPIHBP1 CL E G H338328615947Hyperlipoproteinemia, type ID615947C4014767OMIM116624945612757
HP:0002240HP:0006564Fluctuating hepatomegaly1GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA11204492602646
HP:0002240HP:0006564Fluctuating hepatomegaly1GUCY2D CL E G H3000204000Leber congenital amaurosis 1204000C2931258OMIM18384689600179
HP:0002240HP:0006564Fluctuating hepatomegaly1GUSB CL E G H2990253220Mucopolysaccharidosis type VII253220C0085132OMIM12774696611499
HP:0002240HP:0006564Fluctuating hepatomegaly1H19 CL E G H283120130650Beckwith-Wiedemann syndrome130650C0004903OMIM1584713103280
HP:0002240HP:0006564Fluctuating hepatomegaly1HADHA CL E G H30305ORPHA16304801600890
HP:0002240HP:0006564Fluctuating hepatomegaly1HADHA CL E G H3030609016Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency609016CN074230OMIM16304801600890
HP:0002240HP:0006564Fluctuating hepatomegaly1HAMP CL E G H57817613313Hemochromatosis type 2B613313C1865616OMIM16315598606464
HP:0002240HP:0006564Fluctuating hepatomegaly1HBA1 CL E G H3039163596ORPHA13794823141800
HP:0002240HP:0006564Fluctuating hepatomegaly1HBA1 CL E G H3039613978Hemoglobin H613978C3161174OMIM13794823141800
HP:0002240HP:0006564Fluctuating hepatomegaly1HBA2 CL E G H3040163596ORPHA13334824141850
HP:0002240HP:0006564Fluctuating hepatomegaly1HBA2 CL E G H3040613978Hemoglobin H613978C3161174OMIM13334824141850
HP:0002240HP:0006564Fluctuating hepatomegaly1HBB CL E G H304346532ORPHA114504827141900
HP:0002240HP:0006564Fluctuating hepatomegaly1HBB CL E G H3043231222ORPHA114504827141900
HP:0002240HP:0006564Fluctuating hepatomegaly1HBB CL E G H3043231214ORPHA114504827141900
HP:0002240HP:0006564Fluctuating hepatomegaly1HBB CL E G H3043603903Hb SS disease603903C0002895OMIM114504827141900
HP:0002240HP:0006564Fluctuating hepatomegaly1HBG1 CL E G H304746532ORPHA1674831142200
HP:0002240HP:0006564Fluctuating hepatomegaly1HBG2 CL E G H304846532ORPHA1784832142250
HP:0002240HP:0006564Fluctuating hepatomegaly1HFE CL E G H3077465508ORPHA11854886613609
HP:0002240HP:0006564Fluctuating hepatomegaly1HFE CL E G H3077235200Hemochromatosis type 1235200C3469186OMIM11854886613609
HP:0002240HP:0006564Fluctuating hepatomegaly1HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM184326527610453
HP:0002240HP:0006564Fluctuating hepatomegaly1HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM13275005613898
HP:0002240HP:0006564Fluctuating hepatomegaly1HMGCS2 CL E G H3158605911mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency605911C2751532OMIM12295008600234
HP:0002240HP:0006564Fluctuating hepatomegaly1HMOX1 CL E G H3162614034Heme oxygenase 1 deficiency614034C1841651OMIM11245013141250
HP:0002240HP:0006564Fluctuating hepatomegaly1HNF1A CL E G H6927324575ORPHA172511621142410
HP:0002240HP:0006564Fluctuating hepatomegaly1HNF4A CL E G H3172263455Hyperinsulinism due to HNF4A deficiencyCN202290ORPHA14485024600281
HP:0002240HP:0006564Fluctuating hepatomegaly1HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM17865213601860
HP:0002240HP:0006564Fluctuating hepatomegaly1HSD3B7 CL E G H8027079301ORPHA110918324607764
HP:0002240HP:0006564Fluctuating hepatomegaly1HSD3B7 CL E G H80270607765Bile acid synthesis defect, congenital, 1607765C1843116OMIM110918324607764
HP:0002240HP:0006564Fluctuating hepatomegaly1HYMAI CL E G H5706196191ORPHA1175326606546
HP:0002240HP:0006564Fluctuating hepatomegaly1ICOS CL E G H29851607594Common variable immunodeficiency 1607594C3149378OMIM11695351604558
HP:0002240HP:0006564Fluctuating hepatomegaly1ICOS CL E G H29851240500Common variable immunodeficiency 2240500C3150354OMIM11695351604558
HP:0002240HP:0006564Fluctuating hepatomegaly1IDS CL E G H3423309900Mucopolysaccharidosis, MPS-II309900C0026705OMIM17685389300823
HP:0002240HP:0006564Fluctuating hepatomegaly1IDUA CL E G H342593474ORPHA113135391252800
HP:0002240HP:0006564Fluctuating hepatomegaly1IDUA CL E G H342593473ORPHA113135391252800
HP:0002240HP:0006564Fluctuating hepatomegaly1IDUA CL E G H342593476ORPHA113135391252800
HP:0002240HP:0006564Fluctuating hepatomegaly1IDUA CL E G H3425607014Dysostosis multiplex607014C0086795OMIM113135391252800
HP:0002240HP:0006564Fluctuating hepatomegaly1IDUA CL E G H3425607015Mucopolysaccharidosis, MPS-I-H/S607015C0086431OMIM113135391252800
HP:0002240HP:0006564Fluctuating hepatomegaly1IFT122 CL E G H55764218330Cranioectodermal dysplasia 1218330C0432235OMIM146213556606045
HP:0002240HP:0006564Fluctuating hepatomegaly1IFT140 CL E G H9742266920Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia266920C1849437OMIM1128429077614620
HP:0002240HP:0006564Fluctuating hepatomegaly1IFT172 CL E G H26160615630Short-rib thoracic dysplasia 10 with or without polydactyly615630C3810175OMIM198930391607386
HP:0002240HP:0006564Fluctuating hepatomegaly1IGF2 CL E G H3481130650Beckwith-Wiedemann syndrome130650C0004903OMIM1985466147470
HP:0002240HP:0006564Fluctuating hepatomegaly1IL1RN CL E G H3557612852Osteomyelitis, sterile multifocal, with periostitis and pustulosis612852C2748507OMIM12026000147679
HP:0002240HP:0006564Fluctuating hepatomegaly1IL2RA CL E G H3559606367Interleukin 2 receptor, alpha, deficiency of606367C1853392OMIM12656008147730
HP:0002240HP:0006564Fluctuating hepatomegaly1IL2RG CL E G H356139041ORPHA14526010308380
HP:0002240HP:0006564Fluctuating hepatomegaly1IL2RG CL E G H3561300400X-linked severe combined immunodeficiency300400C1279481OMIM14526010308380
HP:0002240HP:0006564Fluctuating hepatomegaly1IL7R CL E G H357539041ORPHA13756024146661
HP:0002240HP:0006564Fluctuating hepatomegaly1IL7R CL E G H3575608971Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive608971C1837028OMIM13756024146661
HP:0002240HP:0006564Fluctuating hepatomegaly1INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA162021474613037
HP:0002240HP:0006564Fluctuating hepatomegaly1ITCH CL E G H83737613385Autoimmune disease, syndromic multisystem613385C3150649OMIM126213890606409
HP:0002240HP:0006564Fluctuating hepatomegaly1ITK CL E G H3702613011Lymphoproliferative syndrome 1613011C3552634OMIM13696171186973
HP:0002240HP:0006564Fluctuating hepatomegaly1JAK2 CL E G H3717729Anti-factor 8 autoimmunizationORPHA12936192147796
HP:0002240HP:0006564Fluctuating hepatomegaly1JAK2 CL E G H3717131Myeloid sarcomaORPHA12936192147796
HP:0002240HP:0006564Fluctuating hepatomegaly1JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM120115532606871
HP:0002240HP:0006564Fluctuating hepatomegaly1KAT6B CL E G H23522648ORPHA160517582605880
HP:0002240HP:0006564Fluctuating hepatomegaly1KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM14136250603305
HP:0002240HP:0006564Fluctuating hepatomegaly1KCNJ11 CL E G H3767276580ORPHA13806257600937
HP:0002240HP:0006564Fluctuating hepatomegaly1KCNN4 CL E G H3783616689Dehydrated hereditary stomatocytosis 2616689C4225242OMIM1426293602754
HP:0002240HP:0006564Fluctuating hepatomegaly1KCNQ1 CL E G H3784130650Beckwith-Wiedemann syndrome130650C0004903OMIM117686294607542
HP:0002240HP:0006564Fluctuating hepatomegaly1KCNQ1OT1 CL E G H10984130650Beckwith-Wiedemann syndrome130650C0004903OMIM12326295604115
HP:0002240HP:0006564Fluctuating hepatomegaly1KLF1 CL E G H1066146532ORPHA1876345600599
HP:0002240HP:0006564Fluctuating hepatomegaly1KLF1 CL E G H10661613673Congenital dyserythropoietic anemia, type IV613673C3150926OMIM1876345600599
HP:0002240HP:0006564Fluctuating hepatomegaly1KRAS CL E G H3845648ORPHA14406407190070
HP:0002240HP:0006564Fluctuating hepatomegaly1KRAS CL E G H3845614470RAS-associated autoimmune leukoproliferative disorder614470C2674723OMIM14406407190070
HP:0002240HP:0006564Fluctuating hepatomegaly1LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM16512151350
HP:0002240HP:0006564Fluctuating hepatomegaly1LBR CL E G H3930779Arthrogryposis due to muscular dystrophyORPHA12856518600024
HP:0002240HP:0006564Fluctuating hepatomegaly1LBR CL E G H3930215140Greenberg dysplasia215140C2931048OMIM12856518600024
HP:0002240HP:0006564Fluctuating hepatomegaly1LBR CL E G H3930613471Reynolds syndrome613471C0748397OMIM12856518600024
HP:0002240HP:0006564Fluctuating hepatomegaly1LIG4 CL E G H398139041ORPHA15106601601837
HP:0002240HP:0006564Fluctuating hepatomegaly1LIPA CL E G H398875233ORPHA14616617613497
HP:0002240HP:0006564Fluctuating hepato