Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal abdomen morphology (HP:0001438)

Parent Node:
Abnormal liver morphology (HP:0410042)

Parent Node:
Visceromegaly (HP:0003271)

..Starting node
..Hepatomegaly (HP:0002240)

Term ID:

2240

Name:

Hepatomegaly

Synonym:

Enlarged liver

Definition:

Abnormally increased size of the liver.

Comments:

Reference:

HP:0002240

Genes and Diseases:

Child Nodes:

........

Fluctuating hepatomegaly (HP:0006564)

Sister Nodes:

Hepatosplenomegaly (HP:0001433)

Splenomegaly (HP:0001744)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0002240	HP:0002240	Hepatomegaly	0	CL E G H	105259599	130650	Beckwith-Wiedemann syndrome	130650	C0004903	OMIM	1	28	0
HP:0002240	HP:0002240	Hepatomegaly	0	A2ML1 CL E G H	144568	648				ORPHA	1	1146	23336	610627
HP:0002240	HP:0002240	Hepatomegaly	0	ABCA1 CL E G H	19	205400	Tangier disease	205400	C0039292	OMIM	1	993	29	600046
HP:0002240	HP:0002240	Hepatomegaly	0	ABCB11 CL E G H	8647	605479	Benign recurrent intrahepatic cholestasis 2	605479	C2608083	OMIM	1	967	42	603201
HP:0002240	HP:0002240	Hepatomegaly	0	ABCB11 CL E G H	8647	601847	Progressive familial intrahepatic cholestasis 2	601847	C3489789	OMIM	1	967	42	603201
HP:0002240	HP:0002240	Hepatomegaly	0	ABCB4 CL E G H	5244	602347	Progressive familial intrahepatic cholestasis 3	602347	C1865643	OMIM	1	453	45	171060
HP:0002240	HP:0002240	Hepatomegaly	0	ABCC8 CL E G H	6833	276575				ORPHA	1	1569	59	600509
HP:0002240	HP:0002240	Hepatomegaly	0	ABCD3 CL E G H	5825	616278	Bile acid synthesis defect, congenital, 5	616278	C4225390	OMIM	1	50	67	170995
HP:0002240	HP:0002240	Hepatomegaly	0	ABHD5 CL E G H	51099	98907				ORPHA	1	194	21396	604780
HP:0002240	HP:0002240	Hepatomegaly	0	ABHD5 CL E G H	51099	275630	Triglyceride storage disease with ichthyosis	275630	C0268238	OMIM	1	194	21396	604780
HP:0002240	HP:0002240	Hepatomegaly	0	ACADL CL E G H	33	99900				ORPHA	1	38	88	609576
HP:0002240	HP:0002240	Hepatomegaly	0	ACADM CL E G H	34	201450	Medium-chain acyl-coenzyme A dehydrogenase deficiency	201450	C0220710	OMIM	1	635	89	607008
HP:0002240	HP:0002240	Hepatomegaly	0	ACADVL CL E G H	37	201475	Very long chain acyl-CoA dehydrogenase deficiency	201475	C3887523	OMIM	1	1297	92	609575
HP:0002240	HP:0002240	Hepatomegaly	0	ACOX1 CL E G H	51	2971				ORPHA	1	517	119	609751
HP:0002240	HP:0002240	Hepatomegaly	0	ACOX1 CL E G H	51	264470	Pseudoneonatal adrenoleukodystrophy	264470	C1849678	OMIM	1	517	119	609751
HP:0002240	HP:0002240	Hepatomegaly	0	ADA CL E G H	100	39041				ORPHA	1	448	186	608958
HP:0002240	HP:0002240	Hepatomegaly	0	ADA CL E G H	100	102700	Severe combined immunodeficiency due to ADA deficiency	102700	C1863236	OMIM	1	448	186	608958
HP:0002240	HP:0002240	Hepatomegaly	0	ADAMTSL2 CL E G H	9719	231050	Geleophysic dysplasia 1	231050	C3278147	OMIM	1	247	14631	612277
HP:0002240	HP:0002240	Hepatomegaly	0	AGA CL E G H	175	208400	Aspartylglucosaminuria	208400	C0268225	OMIM	1	413	318	613228
HP:0002240	HP:0002240	Hepatomegaly	0	AGL CL E G H	178	232400	Glycogen storage disease type III	232400	C0017922	OMIM	1	1774	321	610860
HP:0002240	HP:0002240	Hepatomegaly	0	AGPAT2 CL E G H	10555	528	Acute myeloblastic leukemia type 3			ORPHA	1	213	325	603100
HP:0002240	HP:0002240	Hepatomegaly	0	AGPAT2 CL E G H	10555	608594	Congenital generalized lipodystrophy type 1	608594	C1720862	OMIM	1	213	325	603100
HP:0002240	HP:0002240	Hepatomegaly	0	AKR1D1 CL E G H	6718	79303				ORPHA	1	204	388	604741
HP:0002240	HP:0002240	Hepatomegaly	0	AKR1D1 CL E G H	6718	235555	Bile acid synthesis defect, congenital, 2	235555	C1856127	OMIM	1	204	388	604741
HP:0002240	HP:0002240	Hepatomegaly	0	AKT2 CL E G H	208	79085				ORPHA	1	115	392	164731
HP:0002240	HP:0002240	Hepatomegaly	0	ALDOB CL E G H	229	229600	Hereditary fructosuria	229600	C0016751	OMIM	1	371	417	612724
HP:0002240	HP:0002240	Hepatomegaly	0	ALG1 CL E G H	56052	608540	Congenital disorder of glycosylation type 1K	608540	C2931005	OMIM	1	495	18294	605907
HP:0002240	HP:0002240	Hepatomegaly	0	ALG13 CL E G H	79868	300884	Epileptic encephalopathy, early infantile, 36	300884	C3550904	OMIM	1	803	30881	300776
HP:0002240	HP:0002240	Hepatomegaly	0	ALG2 CL E G H	85365	607906	Congenital disorder of glycosylation type 1I	607906	C1842836	OMIM	1	262	23159	607905
HP:0002240	HP:0002240	Hepatomegaly	0	ALG8 CL E G H	79053	608104	Congenital disorder of glycosylation type 1H	608104	C2931002	OMIM	1	225	23161	608103
HP:0002240	HP:0002240	Hepatomegaly	0	ALMS1 CL E G H	7840	203800	Alstrom syndrome	203800	C0268425	OMIM	1	4321	428	606844
HP:0002240	HP:0002240	Hepatomegaly	0	AMACR CL E G H	23600	214950	Bile acid synthesis defect, congenital, 4	214950	C1858328	OMIM	1	290	451	604489
HP:0002240	HP:0002240	Hepatomegaly	0	AP3B1 CL E G H	8546	608233	Hermansky Pudlak syndrome 2	608233	C1842362	OMIM	1	532	566	603401
HP:0002240	HP:0002240	Hepatomegaly	0	AP3D1 CL E G H	8943	617050	Hermansky-Pudlak syndrome 10	617050	C4310746	OMIM	1	596	568	607246
HP:0002240	HP:0002240	Hepatomegaly	0	APOA1 CL E G H	335	105200	Familial visceral amyloidosis, Ostertag type	105200	C0268389	OMIM	1	192	600	107680
HP:0002240	HP:0002240	Hepatomegaly	0	APOC2 CL E G H	344	207750	Apolipoprotein C2 deficiency	207750	C1720779	OMIM	1	87	609	608083
HP:0002240	HP:0002240	Hepatomegaly	0	APOE CL E G H	348	158029				ORPHA	1	136	613	107741
HP:0002240	HP:0002240	Hepatomegaly	0	APOE CL E G H	348	412				ORPHA	1	136	613	107741
HP:0002240	HP:0002240	Hepatomegaly	0	APOPT1 CL E G H	84334	436271				ORPHA	1	152	20492	616003
HP:0002240	HP:0002240	Hepatomegaly	0	APOPT1 CL E G H	84334	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	152	20492	616003
HP:0002240	HP:0002240	Hepatomegaly	0	ARSB CL E G H	411	253200	Mucopolysaccharidosis type VI	253200	C0026709	OMIM	1	692	714	611542
HP:0002240	HP:0002240	Hepatomegaly	0	ASAH1 CL E G H	427	333				ORPHA	1	712	735	613468
HP:0002240	HP:0002240	Hepatomegaly	0	ASAH1 CL E G H	427	228000	Farber disease	228000	C0268255	OMIM	1	712	735	613468
HP:0002240	HP:0002240	Hepatomegaly	0	ASL CL E G H	435	207900	Argininosuccinate lyase deficiency	207900	C0268547	OMIM	1	554	746	608310
HP:0002240	HP:0002240	Hepatomegaly	0	ASS1 CL E G H	445	215700	Citrullinemia type I	215700	C0175683	OMIM	1	571	758	603470
HP:0002240	HP:0002240	Hepatomegaly	0	ATP6AP1 CL E G H	537	300972	Immunodeficiency 47	300972	C4310819	OMIM	1	319	868	300197
HP:0002240	HP:0002240	Hepatomegaly	0	ATP7B CL E G H	540	905				ORPHA	1	1806	870	606882
HP:0002240	HP:0002240	Hepatomegaly	0	ATP7B CL E G H	540	277900	Wilson disease	277900	C0019202	OMIM	1	1806	870	606882
HP:0002240	HP:0002240	Hepatomegaly	0	ATP8B1 CL E G H	5205	243300	Cholestasis, benign recurrent intrahepatic 1	243300	C1855731	OMIM	1	509	3706	602397
HP:0002240	HP:0002240	Hepatomegaly	0	ATP8B1 CL E G H	5205	211600	Progressive intrahepatic cholestasis	211600	C0268312	OMIM	1	509	3706	602397
HP:0002240	HP:0002240	Hepatomegaly	0	ATPAF2 CL E G H	91647	604273	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1	604273	C2700431	OMIM	1	228	18802	608918
HP:0002240	HP:0002240	Hepatomegaly	0	B2M CL E G H	567	105200	Familial visceral amyloidosis, Ostertag type	105200	C0268389	OMIM	1	45	914	109700
HP:0002240	HP:0002240	Hepatomegaly	0	BOLA3 CL E G H	388962	614299	Multiple mitochondrial dysfunctions syndrome 2	614299	C3280378	OMIM	1	76	24415	613183
HP:0002240	HP:0002240	Hepatomegaly	0	BRAF CL E G H	673	648				ORPHA	1	948	1097	164757
HP:0002240	HP:0002240	Hepatomegaly	0	BSCL2 CL E G H	26580	528	Acute myeloblastic leukemia type 3			ORPHA	1	435	15832	606158
HP:0002240	HP:0002240	Hepatomegaly	0	BSCL2 CL E G H	26580	269700	Congenital generalized lipodystrophy type 2	269700	C1720863	OMIM	1	435	15832	606158
HP:0002240	HP:0002240	Hepatomegaly	0	BTD CL E G H	686	253260	Biotinidase deficiency	253260	C0220754	OMIM	1	456	1122	609019
HP:0002240	HP:0002240	Hepatomegaly	0	C15orf41 CL E G H	84529	615631	ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib	615631	C3810185	OMIM	1		26929	615626
HP:0002240	HP:0002240	Hepatomegaly	0	CA2 CL E G H	760	2785				ORPHA	1	142	1373	611492
HP:0002240	HP:0002240	Hepatomegaly	0	CASP10 CL E G H	843	603909	Autoimmune lymphoproliferative syndrome, type 2A	603909	C1858968	OMIM	1	385	1500	601762
HP:0002240	HP:0002240	Hepatomegaly	0	CASR CL E G H	846	417	Aloi Tomasini Isaia syndrome			ORPHA	1	2039	1514	601199
HP:0002240	HP:0002240	Hepatomegaly	0	CASR CL E G H	846	239200	Neonatal severe hyperparathyroidism	239200	C1832615	OMIM	1	2039	1514	601199
HP:0002240	HP:0002240	Hepatomegaly	0	CAV1 CL E G H	857	528	Acute myeloblastic leukemia type 3			ORPHA	1	115	1527	601047
HP:0002240	HP:0002240	Hepatomegaly	0	CAVIN1 CL E G H	284119	528	Acute myeloblastic leukemia type 3			ORPHA	1	112	9688	603198
HP:0002240	HP:0002240	Hepatomegaly	0	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	112	9688	603198
HP:0002240	HP:0002240	Hepatomegaly	0	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1176	29253	612013
HP:0002240	HP:0002240	Hepatomegaly	0	CC2D2A CL E G H	57545	1454	Common atrioventricular canal		C0221215	ORPHA	1	1176	29253	612013
HP:0002240	HP:0002240	Hepatomegaly	0	CCDC115 CL E G H	84317	616828	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo	616828	C4225191	OMIM	1	70	28178	613734
HP:0002240	HP:0002240	Hepatomegaly	0	CD19 CL E G H	930	240500	Common variable immunodeficiency 2	240500	C3150354	OMIM	1	325	1633	107265
HP:0002240	HP:0002240	Hepatomegaly	0	CD27 CL E G H	939	615122	Lymphoproliferative syndrome 2	615122	C3554540	OMIM	1	181	11922	186711
HP:0002240	HP:0002240	Hepatomegaly	0	CD28 CL E G H	940	3162	Lactate dehydrogenase deficiency type C			ORPHA	1	33	1653	186760
HP:0002240	HP:0002240	Hepatomegaly	0	CD40LG CL E G H	959	308230	Immunodeficiency with hyper IgM type 1	308230	C0398689	OMIM	1	339	11935	300386
HP:0002240	HP:0002240	Hepatomegaly	0	CD55 CL E G H	1604	226300	Protein-losing enteropathy	226300	C0033680	OMIM	1	137	2665	125240
HP:0002240	HP:0002240	Hepatomegaly	0	CD96 CL E G H	10225	211750	C syndrome	211750	C0796095	OMIM	1	72	16892	606037
HP:0002240	HP:0002240	Hepatomegaly	0	CDKN1C CL E G H	1028	130650	Beckwith-Wiedemann syndrome	130650	C0004903	OMIM	1	912	1786	600856
HP:0002240	HP:0002240	Hepatomegaly	0	CHD7 CL E G H	55636	39041				ORPHA	1	2318	20626	608892
HP:0002240	HP:0002240	Hepatomegaly	0	CIDEC CL E G H	63924	435651				ORPHA	1	81	24229	612120
HP:0002240	HP:0002240	Hepatomegaly	0	CIDEC CL E G H	63924	615238	Familial partial lipodystrophy 5	615238	C3808940	OMIM	1	81	24229	612120
HP:0002240	HP:0002240	Hepatomegaly	0	CLCN7 CL E G H	1186	667				ORPHA	1	729	2025	602727
HP:0002240	HP:0002240	Hepatomegaly	0	CLDN1 CL E G H	9076	59303				ORPHA	1	92	2032	603718
HP:0002240	HP:0002240	Hepatomegaly	0	CLDN1 CL E G H	9076	607626	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis	607626	C1843355	OMIM	1	92	2032	603718
HP:0002240	HP:0002240	Hepatomegaly	0	COA7 CL E G H	65260	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	32	25716	615623
HP:0002240	HP:0002240	Hepatomegaly	0	COG7 CL E G H	91949	608779	COG7 congenital disorder of glycosylation	608779	C2931010	OMIM	1	296	18622	606978
HP:0002240	HP:0002240	Hepatomegaly	0	COX10 CL E G H	1352	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	293	2260	602125
HP:0002240	HP:0002240	Hepatomegaly	0	COX14 CL E G H	84987	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	28	28216	614478
HP:0002240	HP:0002240	Hepatomegaly	0	COX20 CL E G H	116228	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	162	26970	614698
HP:0002240	HP:0002240	Hepatomegaly	0	COX4I2 CL E G H	84701	612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis	612714	C2675184	OMIM	1	55	16232	607976
HP:0002240	HP:0002240	Hepatomegaly	0	COX6B1 CL E G H	1340	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	52	2280	124089
HP:0002240	HP:0002240	Hepatomegaly	0	COX8A CL E G H	1351	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	23	2294	123870
HP:0002240	HP:0002240	Hepatomegaly	0	CPOX CL E G H	1371	121300	Hereditary coproporphyria	121300	C0162531	OMIM	1	207	2321	612732
HP:0002240	HP:0002240	Hepatomegaly	0	CPT1A CL E G H	1374	156				ORPHA	1	620	2328	600528
HP:0002240	HP:0002240	Hepatomegaly	0	CPT1A CL E G H	1374	255120	Carnitine palmitoyltransferase I deficiency	255120	C0342789	OMIM	1	620	2328	600528
HP:0002240	HP:0002240	Hepatomegaly	0	CPT2 CL E G H	1376	228308				ORPHA	1	720	2330	600650
HP:0002240	HP:0002240	Hepatomegaly	0	CPT2 CL E G H	1376	228305				ORPHA	1	720	2330	600650
HP:0002240	HP:0002240	Hepatomegaly	0	CPT2 CL E G H	1376	600649	Carnitine palmitoyltransferase II deficiency, infantile	600649	C1833511	OMIM	1	720	2330	600650
HP:0002240	HP:0002240	Hepatomegaly	0	CPT2 CL E G H	1376	608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	608836	C1833518	OMIM	1	720	2330	600650
HP:0002240	HP:0002240	Hepatomegaly	0	CR2 CL E G H	1380	240500	Common variable immunodeficiency 2	240500	C3150354	OMIM	1	516	2336	120650
HP:0002240	HP:0002240	Hepatomegaly	0	CTLA4 CL E G H	1493	616100	Autoimmune lymphoproliferatiVe syndrome, type V	616100	C4015214	OMIM	1	190	2505	123890
HP:0002240	HP:0002240	Hepatomegaly	0	CTLA4 CL E G H	1493	3162	Lactate dehydrogenase deficiency type C			ORPHA	1	190	2505	123890
HP:0002240	HP:0002240	Hepatomegaly	0	CTNNB1 CL E G H	1499	33402				ORPHA	1	468	2514	116806
HP:0002240	HP:0002240	Hepatomegaly	0	CTNS CL E G H	1497	219800	Nephropathic cystinosis	219800	C0010690	OMIM	1	651	2518	606272
HP:0002240	HP:0002240	Hepatomegaly	0	CYBA CL E G H	1535	379				ORPHA	1	392	2577	608508
HP:0002240	HP:0002240	Hepatomegaly	0	CYBA CL E G H	1535	233690	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	233690	C1856255	OMIM	1	392	2577	608508
HP:0002240	HP:0002240	Hepatomegaly	0	CYBB CL E G H	1536	379				ORPHA	1	639	2578	300481
HP:0002240	HP:0002240	Hepatomegaly	0	CYBB CL E G H	1536	306400	Chronic granulomatous disease, X-linked	306400	C1844376	OMIM	1	639	2578	300481
HP:0002240	HP:0002240	Hepatomegaly	0	CYBC1 CL E G H	79415	379				ORPHA	1	110	28672	0
HP:0002240	HP:0002240	Hepatomegaly	0	CYP7B1 CL E G H	9420	79302				ORPHA	1	333	2652	603711
HP:0002240	HP:0002240	Hepatomegaly	0	CYP7B1 CL E G H	9420	613812	Bile acid synthesis defect, congenital, 3	613812	C3151147	OMIM	1	333	2652	603711
HP:0002240	HP:0002240	Hepatomegaly	0	DCDC2 CL E G H	51473	616217	Nephronophthisis 19	616217	C4015542	OMIM	1	201	18141	605755
HP:0002240	HP:0002240	Hepatomegaly	0	DCDC2 CL E G H	51473	617394	Sclerosing cholangitis, neonatal	617394	C4479344	OMIM	1	201	18141	605755
HP:0002240	HP:0002240	Hepatomegaly	0	DCLRE1C CL E G H	64421	39041				ORPHA	1	698	17642	605988
HP:0002240	HP:0002240	Hepatomegaly	0	DCLRE1C CL E G H	64421	603554	Histiocytic medullary reticulosis	603554	C1801959	OMIM	1	698	17642	605988
HP:0002240	HP:0002240	Hepatomegaly	0	DDRGK1 CL E G H	65992	93352				ORPHA	1	87	16110	616177
HP:0002240	HP:0002240	Hepatomegaly	0	DDRGK1 CL E G H	65992	602557	Spondyloepimetaphyseal dysplasia Shohat type	602557	C1865185	OMIM	1	87	16110	616177
HP:0002240	HP:0002240	Hepatomegaly	0	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	167	2858	601465
HP:0002240	HP:0002240	Hepatomegaly	0	DGUOK CL E G H	1716	617068	Portal hypertension, noncirrhotic	617068	C4310735	OMIM	1	167	2858	601465
HP:0002240	HP:0002240	Hepatomegaly	0	DHDDS CL E G H	79947	613861	Retinitis pigmentosa 59	613861	C3151227	OMIM	1	318	20603	608172
HP:0002240	HP:0002240	Hepatomegaly	0	DHFR CL E G H	1719	613839	Megaloblastic anemia due to dihydrofolate reductase deficiency	613839	C3151205	OMIM	1	493	2861	126060
HP:0002240	HP:0002240	Hepatomegaly	0	DIS3L2 CL E G H	129563	2849				ORPHA	1	1714	28648	614184
HP:0002240	HP:0002240	Hepatomegaly	0	DLD CL E G H	1738	2394	Frontonasal dysplasia Klippel Feil syndrome			ORPHA	1	422	2898	238331
HP:0002240	HP:0002240	Hepatomegaly	0	DNAJC21 CL E G H	134218	260400	Shwachman syndrome	260400	C0272170	OMIM	1	236	27030	617048
HP:0002240	HP:0002240	Hepatomegaly	0	DOLK CL E G H	22845	91131				ORPHA	1	424	23406	610746
HP:0002240	HP:0002240	Hepatomegaly	0	DPM1 CL E G H	8813	608799	Congenital disorder of glycosylation type 1E	608799	C1837396	OMIM	1	203	3005	603503
HP:0002240	HP:0002240	Hepatomegaly	0	DYNC2LI1 CL E G H	51626	617088	Short-rib thoracic dysplasia 15 with polydactyly	617088	C4310724	OMIM	1	414	24595	617083
HP:0002240	HP:0002240	Hepatomegaly	0	EIF2AK3 CL E G H	9451	1667	Dandy-Walker malformation with facial hemangioma			ORPHA	1	359	3255	604032
HP:0002240	HP:0002240	Hepatomegaly	0	EIF2AK3 CL E G H	9451	226980	Wolcott-Rallison dysplasia	226980	C0432217	OMIM	1	359	3255	604032
HP:0002240	HP:0002240	Hepatomegaly	0	ERCC6 CL E G H	2074	133540	Cockayne syndrome B	133540	C0751038	OMIM	1	1170	3438	609413
HP:0002240	HP:0002240	Hepatomegaly	0	ERCC8 CL E G H	1161	216400	Cockayne syndrome type A	216400	C0751039	OMIM	1	390	3439	609412
HP:0002240	HP:0002240	Hepatomegaly	0	ETFA CL E G H	2108	231680	Glutaric aciduria, type 2	231680	C0268596	OMIM	1	331	3481	608053
HP:0002240	HP:0002240	Hepatomegaly	0	ETFB CL E G H	2109	231680	Glutaric aciduria, type 2	231680	C0268596	OMIM	1	192	3482	130410
HP:0002240	HP:0002240	Hepatomegaly	0	ETFDH CL E G H	2110	231680	Glutaric aciduria, type 2	231680	C0268596	OMIM	1	607	3483	231675
HP:0002240	HP:0002240	Hepatomegaly	0	EWSR1 CL E G H	2130	83469				ORPHA	1	61	3508	133450
HP:0002240	HP:0002240	Hepatomegaly	0	F5 CL E G H	2153	131	Myeloid sarcoma			ORPHA	1	513	3542	612309
HP:0002240	HP:0002240	Hepatomegaly	0	FAH CL E G H	2184	276700	Tyrosinemia type I	276700	C0268490	OMIM	1	505	3579	613871
HP:0002240	HP:0002240	Hepatomegaly	0	FAM111B CL E G H	374393	615704	Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis	615704	C3810325	OMIM	1	31	24200	615584
HP:0002240	HP:0002240	Hepatomegaly	0	FAS CL E G H	355	601859	Autoimmune lymphoproliferative syndrome	601859	C1328840	OMIM	1	313	11920	134637
HP:0002240	HP:0002240	Hepatomegaly	0	FASLG CL E G H	356	601859	Autoimmune lymphoproliferative syndrome	601859	C1328840	OMIM	1	158	11936	134638
HP:0002240	HP:0002240	Hepatomegaly	0	FASTKD2 CL E G H	22868	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	315	29160	612322
HP:0002240	HP:0002240	Hepatomegaly	0	FBN1 CL E G H	2200	614185	Geleophysic dysplasia 2	614185	C3280054	OMIM	1	5970	3603	134797
HP:0002240	HP:0002240	Hepatomegaly	0	FBP1 CL E G H	2203	229700	Fructose-biphosphatase deficiency	229700	C0016756	OMIM	1	193	3606	611570
HP:0002240	HP:0002240	Hepatomegaly	0	FDX2 CL E G H	112812	251900	Mitochondrial myopathy	251900	C0162670	OMIM	1	73	30546	614585
HP:0002240	HP:0002240	Hepatomegaly	0	FERMT3 CL E G H	83706	612840	Leukocyte adhesion deficiency, type III	612840	C2748536	OMIM	1	343	23151	607901
HP:0002240	HP:0002240	Hepatomegaly	0	FGA CL E G H	2243	105200	Familial visceral amyloidosis, Ostertag type	105200	C0268389	OMIM	1	168	3661	134820
HP:0002240	HP:0002240	Hepatomegaly	0	FOS CL E G H	2353	528	Acute myeloblastic leukemia type 3			ORPHA	1	29	3796	164810
HP:0002240	HP:0002240	Hepatomegaly	0	FUCA1 CL E G H	2517	230000	Fucosidosis	230000	C0016788	OMIM	1	222	4006	612280
HP:0002240	HP:0002240	Hepatomegaly	0	FUCA1 CL E G H	2517	349	Neuroaxonal dystrophy renal tubular acidosis			ORPHA	1	222	4006	612280
HP:0002240	HP:0002240	Hepatomegaly	0	G6PC CL E G H	2538	232200	Glycogen storage disease type 1A	232200	C2919796	OMIM	1		4056	613742
HP:0002240	HP:0002240	Hepatomegaly	0	G6PC3 CL E G H	92579	612541	Severe congenital neutropenia 4, autosomal recessive	612541	C2675526	OMIM	1	218	24861	611045
HP:0002240	HP:0002240	Hepatomegaly	0	GAA CL E G H	2548	232300	Glycogen storage disease, type II	232300	C0017921	OMIM	1	2068	4065	606800
HP:0002240	HP:0002240	Hepatomegaly	0	GALE CL E G H	2582	230350	UDPglucose-4-epimerase deficiency	230350	C0751161	OMIM	1	153	4116	606953
HP:0002240	HP:0002240	Hepatomegaly	0	GALNS CL E G H	2588	253000	Mucopolysaccharidosis, MPS-IV-A	253000	C0086651	OMIM	1	944	4122	612222
HP:0002240	HP:0002240	Hepatomegaly	0	GALT CL E G H	2592	230400	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	230400	C0268151	OMIM	1	645	4135	606999
HP:0002240	HP:0002240	Hepatomegaly	0	GATA2 CL E G H	2624	3226	Lethal chondrodysplasia Seller type			ORPHA	1	1118	4171	137295
HP:0002240	HP:0002240	Hepatomegaly	0	GBA CL E G H	2629	77259				ORPHA	1		4177	606463
HP:0002240	HP:0002240	Hepatomegaly	0	GBA CL E G H	2629	85212				ORPHA	1		4177	606463
HP:0002240	HP:0002240	Hepatomegaly	0	GBA CL E G H	2629	77260				ORPHA	1		4177	606463
HP:0002240	HP:0002240	Hepatomegaly	0	GBA CL E G H	2629	77261				ORPHA	1		4177	606463
HP:0002240	HP:0002240	Hepatomegaly	0	GBA CL E G H	2629	230900	Acute neuronopathic Gaucher's disease	230900	C0268250	OMIM	1		4177	606463
HP:0002240	HP:0002240	Hepatomegaly	0	GBA CL E G H	2629	231005	Gaucher disease type 3C	231005	C1856476	OMIM	1		4177	606463
HP:0002240	HP:0002240	Hepatomegaly	0	GBA CL E G H	2629	608013	Gaucher disease, perinatal lethal	608013	C1842704	OMIM	1		4177	606463
HP:0002240	HP:0002240	Hepatomegaly	0	GBA CL E G H	2629	230800	Gaucher's disease, type 1	230800	C1961835	OMIM	1		4177	606463
HP:0002240	HP:0002240	Hepatomegaly	0	GBA CL E G H	2629	231000	Subacute neuronopathic Gaucher's disease	231000	C0268251	OMIM	1		4177	606463
HP:0002240	HP:0002240	Hepatomegaly	0	GCDH CL E G H	2639	231670	Glutaric aciduria, type 1	231670	C0268595	OMIM	1	600	4189	608801
HP:0002240	HP:0002240	Hepatomegaly	0	GFM1 CL E G H	85476	609060	Combined oxidative phosphorylation deficiency 1	609060	C1836797	OMIM	1	495	13780	606639
HP:0002240	HP:0002240	Hepatomegaly	0	GLB1 CL E G H	2720	230500	Infantile GM1 gangliosidosis	230500	C0268271	OMIM	1	696	4298	611458
HP:0002240	HP:0002240	Hepatomegaly	0	GLB1 CL E G H	2720	253010	Mucopolysaccharidosis, MPS-IV-B	253010	C0086652	OMIM	1	696	4298	611458
HP:0002240	HP:0002240	Hepatomegaly	0	GLIS3 CL E G H	169792	610199	Diabetes mellitus, neonatal, with congenital hypothyroidism	610199	C1857775	OMIM	1	593	28510	610192
HP:0002240	HP:0002240	Hepatomegaly	0	GLRX5 CL E G H	51218	616860	Sideroblastic anemia 3, pyridoxine-refractory	616860	C4225155	OMIM	1	77	20134	609588
HP:0002240	HP:0002240	Hepatomegaly	0	GNE CL E G H	10020	3166	Ladda Zonana Ramer syndrome			ORPHA	1	783	23657	603824
HP:0002240	HP:0002240	Hepatomegaly	0	GNE CL E G H	10020	269921	Sialuria	269921	C0342853	OMIM	1	783	23657	603824
HP:0002240	HP:0002240	Hepatomegaly	0	GNMT CL E G H	27232	606664	Glycine N-methyltransferase deficiency	606664	C1847720	OMIM	1	75	4415	606628
HP:0002240	HP:0002240	Hepatomegaly	0	GNPTAB CL E G H	79158	576				ORPHA	1	1003	29670	607840
HP:0002240	HP:0002240	Hepatomegaly	0	GNPTAB CL E G H	79158	252500	I cell disease	252500	C2673377	OMIM	1	1003	29670	607840
HP:0002240	HP:0002240	Hepatomegaly	0	GNS CL E G H	2799	252940	Mucopolysaccharidosis, MPS-III-D	252940	C0086650	OMIM	1	428	4422	607664
HP:0002240	HP:0002240	Hepatomegaly	0	GPC3 CL E G H	2719	373	Quinquaud's decalvans folliculitis			ORPHA	1	855	4451	300037
HP:0002240	HP:0002240	Hepatomegaly	0	GPC3 CL E G H	2719	312870	Simpson-Golabi-Behmel syndrome	312870	C0796154	OMIM	1	855	4451	300037
HP:0002240	HP:0002240	Hepatomegaly	0	GPC4 CL E G H	2239	373	Quinquaud's decalvans folliculitis			ORPHA	1	214	4452	300168
HP:0002240	HP:0002240	Hepatomegaly	0	GPC4 CL E G H	2239	312870	Simpson-Golabi-Behmel syndrome	312870	C0796154	OMIM	1	214	4452	300168
HP:0002240	HP:0002240	Hepatomegaly	0	GPD1 CL E G H	2819	614480	Hypertriglyceridemia, transient infantile	614480	C3280953	OMIM	1	76	4455	138420
HP:0002240	HP:0002240	Hepatomegaly	0	GPIHBP1 CL E G H	338328	615947	Hyperlipoproteinemia, type ID	615947	C4014767	OMIM	1	166	24945	612757
HP:0002240	HP:0002240	Hepatomegaly	0	GPR35 CL E G H	2859	171	Le Marec Bracq Picaud syndrome			ORPHA	1	120	4492	602646
HP:0002240	HP:0002240	Hepatomegaly	0	GUCY2D CL E G H	3000	204000	Leber congenital amaurosis 1	204000	C2931258	OMIM	1	838	4689	600179
HP:0002240	HP:0002240	Hepatomegaly	0	GUSB CL E G H	2990	253220	Mucopolysaccharidosis type VII	253220	C0085132	OMIM	1	277	4696	611499
HP:0002240	HP:0002240	Hepatomegaly	0	H19 CL E G H	283120	130650	Beckwith-Wiedemann syndrome	130650	C0004903	OMIM	1	58	4713	103280
HP:0002240	HP:0002240	Hepatomegaly	0	HADHA CL E G H	3030	5				ORPHA	1	630	4801	600890
HP:0002240	HP:0002240	Hepatomegaly	0	HADHA CL E G H	3030	609016	Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency	609016	CN074230	OMIM	1	630	4801	600890
HP:0002240	HP:0002240	Hepatomegaly	0	HAMP CL E G H	57817	613313	Hemochromatosis type 2B	613313	C1865616	OMIM	1	63	15598	606464
HP:0002240	HP:0002240	Hepatomegaly	0	HBA1 CL E G H	3039	163596				ORPHA	1	379	4823	141800
HP:0002240	HP:0002240	Hepatomegaly	0	HBA1 CL E G H	3039	613978	Hemoglobin H	613978	C3161174	OMIM	1	379	4823	141800
HP:0002240	HP:0002240	Hepatomegaly	0	HBA2 CL E G H	3040	163596				ORPHA	1	333	4824	141850
HP:0002240	HP:0002240	Hepatomegaly	0	HBA2 CL E G H	3040	613978	Hemoglobin H	613978	C3161174	OMIM	1	333	4824	141850
HP:0002240	HP:0002240	Hepatomegaly	0	HBB CL E G H	3043	46532				ORPHA	1	1450	4827	141900
HP:0002240	HP:0002240	Hepatomegaly	0	HBB CL E G H	3043	231222				ORPHA	1	1450	4827	141900
HP:0002240	HP:0002240	Hepatomegaly	0	HBB CL E G H	3043	231214				ORPHA	1	1450	4827	141900
HP:0002240	HP:0002240	Hepatomegaly	0	HBB CL E G H	3043	603903	Hb SS disease	603903	C0002895	OMIM	1	1450	4827	141900
HP:0002240	HP:0002240	Hepatomegaly	0	HBG1 CL E G H	3047	46532				ORPHA	1	67	4831	142200
HP:0002240	HP:0002240	Hepatomegaly	0	HBG2 CL E G H	3048	46532				ORPHA	1	78	4832	142250
HP:0002240	HP:0002240	Hepatomegaly	0	HFE CL E G H	3077	465508				ORPHA	1	185	4886	613609
HP:0002240	HP:0002240	Hepatomegaly	0	HFE CL E G H	3077	235200	Hemochromatosis type 1	235200	C3469186	OMIM	1	185	4886	613609
HP:0002240	HP:0002240	Hepatomegaly	0	HGSNAT CL E G H	138050	252930	Mucopolysaccharidosis, MPS-III-C	252930	C0086649	OMIM	1	843	26527	610453
HP:0002240	HP:0002240	Hepatomegaly	0	HMGCL CL E G H	3155	246450	Deficiency of hydroxymethylglutaryl-CoA lyase	246450	C0268601	OMIM	1	327	5005	613898
HP:0002240	HP:0002240	Hepatomegaly	0	HMGCS2 CL E G H	3158	605911	mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency	605911	C2751532	OMIM	1	229	5008	600234
HP:0002240	HP:0002240	Hepatomegaly	0	HMOX1 CL E G H	3162	614034	Heme oxygenase 1 deficiency	614034	C1841651	OMIM	1	124	5013	141250
HP:0002240	HP:0002240	Hepatomegaly	0	HNF1A CL E G H	6927	324575				ORPHA	1	725	11621	142410
HP:0002240	HP:0002240	Hepatomegaly	0	HNF4A CL E G H	3172	263455	Hyperinsulinism due to HNF4A deficiency		CN202290	ORPHA	1	448	5024	600281
HP:0002240	HP:0002240	Hepatomegaly	0	HSD17B4 CL E G H	3295	261515	Bifunctional peroxisomal enzyme deficiency	261515	C0342870	OMIM	1	786	5213	601860
HP:0002240	HP:0002240	Hepatomegaly	0	HSD3B7 CL E G H	80270	79301				ORPHA	1	109	18324	607764
HP:0002240	HP:0002240	Hepatomegaly	0	HSD3B7 CL E G H	80270	607765	Bile acid synthesis defect, congenital, 1	607765	C1843116	OMIM	1	109	18324	607764
HP:0002240	HP:0002240	Hepatomegaly	0	HYMAI CL E G H	57061	96191				ORPHA	1	17	5326	606546
HP:0002240	HP:0002240	Hepatomegaly	0	ICOS CL E G H	29851	607594	Common variable immunodeficiency 1	607594	C3149378	OMIM	1	169	5351	604558
HP:0002240	HP:0002240	Hepatomegaly	0	ICOS CL E G H	29851	240500	Common variable immunodeficiency 2	240500	C3150354	OMIM	1	169	5351	604558
HP:0002240	HP:0002240	Hepatomegaly	0	IDS CL E G H	3423	309900	Mucopolysaccharidosis, MPS-II	309900	C0026705	OMIM	1	768	5389	300823
HP:0002240	HP:0002240	Hepatomegaly	0	IDUA CL E G H	3425	93474				ORPHA	1	1313	5391	252800
HP:0002240	HP:0002240	Hepatomegaly	0	IDUA CL E G H	3425	93473				ORPHA	1	1313	5391	252800
HP:0002240	HP:0002240	Hepatomegaly	0	IDUA CL E G H	3425	93476				ORPHA	1	1313	5391	252800
HP:0002240	HP:0002240	Hepatomegaly	0	IDUA CL E G H	3425	607014	Dysostosis multiplex	607014	C0086795	OMIM	1	1313	5391	252800
HP:0002240	HP:0002240	Hepatomegaly	0	IDUA CL E G H	3425	607015	Mucopolysaccharidosis, MPS-I-H/S	607015	C0086431	OMIM	1	1313	5391	252800
HP:0002240	HP:0002240	Hepatomegaly	0	IFT122 CL E G H	55764	218330	Cranioectodermal dysplasia 1	218330	C0432235	OMIM	1	462	13556	606045
HP:0002240	HP:0002240	Hepatomegaly	0	IFT140 CL E G H	9742	266920	Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia	266920	C1849437	OMIM	1	1284	29077	614620
HP:0002240	HP:0002240	Hepatomegaly	0	IFT172 CL E G H	26160	615630	Short-rib thoracic dysplasia 10 with or without polydactyly	615630	C3810175	OMIM	1	989	30391	607386
HP:0002240	HP:0002240	Hepatomegaly	0	IGF2 CL E G H	3481	130650	Beckwith-Wiedemann syndrome	130650	C0004903	OMIM	1	98	5466	147470
HP:0002240	HP:0002240	Hepatomegaly	0	IL1RN CL E G H	3557	612852	Osteomyelitis, sterile multifocal, with periostitis and pustulosis	612852	C2748507	OMIM	1	202	6000	147679
HP:0002240	HP:0002240	Hepatomegaly	0	IL2RA CL E G H	3559	606367	Interleukin 2 receptor, alpha, deficiency of	606367	C1853392	OMIM	1	265	6008	147730
HP:0002240	HP:0002240	Hepatomegaly	0	IL2RG CL E G H	3561	39041				ORPHA	1	452	6010	308380
HP:0002240	HP:0002240	Hepatomegaly	0	IL2RG CL E G H	3561	300400	X-linked severe combined immunodeficiency	300400	C1279481	OMIM	1	452	6010	308380
HP:0002240	HP:0002240	Hepatomegaly	0	IL7R CL E G H	3575	39041				ORPHA	1	375	6024	146661
HP:0002240	HP:0002240	Hepatomegaly	0	IL7R CL E G H	3575	608971	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive	608971	C1837028	OMIM	1	375	6024	146661
HP:0002240	HP:0002240	Hepatomegaly	0	INPP5E CL E G H	56623	1454	Common atrioventricular canal		C0221215	ORPHA	1	620	21474	613037
HP:0002240	HP:0002240	Hepatomegaly	0	ITCH CL E G H	83737	613385	Autoimmune disease, syndromic multisystem	613385	C3150649	OMIM	1	262	13890	606409
HP:0002240	HP:0002240	Hepatomegaly	0	ITK CL E G H	3702	613011	Lymphoproliferative syndrome 1	613011	C3552634	OMIM	1	369	6171	186973
HP:0002240	HP:0002240	Hepatomegaly	0	JAK2 CL E G H	3717	729	Anti-factor 8 autoimmunization			ORPHA	1	293	6192	147796
HP:0002240	HP:0002240	Hepatomegaly	0	JAK2 CL E G H	3717	131	Myeloid sarcoma			ORPHA	1	293	6192	147796
HP:0002240	HP:0002240	Hepatomegaly	0	JAM3 CL E G H	83700	613730	Hemorrhagic destruction of the brain, subependymal calcification, and cataracts	613730	C3151000	OMIM	1	201	15532	606871
HP:0002240	HP:0002240	Hepatomegaly	0	KAT6B CL E G H	23522	648				ORPHA	1	605	17582	605880
HP:0002240	HP:0002240	Hepatomegaly	0	KCNH1 CL E G H	3756	135500	Zimmermann-Laband syndrome 1	135500	CN032818	OMIM	1	413	6250	603305
HP:0002240	HP:0002240	Hepatomegaly	0	KCNJ11 CL E G H	3767	276580				ORPHA	1	380	6257	600937
HP:0002240	HP:0002240	Hepatomegaly	0	KCNN4 CL E G H	3783	616689	Dehydrated hereditary stomatocytosis 2	616689	C4225242	OMIM	1	42	6293	602754
HP:0002240	HP:0002240	Hepatomegaly	0	KCNQ1 CL E G H	3784	130650	Beckwith-Wiedemann syndrome	130650	C0004903	OMIM	1	1768	6294	607542
HP:0002240	HP:0002240	Hepatomegaly	0	KCNQ1OT1 CL E G H	10984	130650	Beckwith-Wiedemann syndrome	130650	C0004903	OMIM	1	232	6295	604115
HP:0002240	HP:0002240	Hepatomegaly	0	KLF1 CL E G H	10661	46532				ORPHA	1	87	6345	600599
HP:0002240	HP:0002240	Hepatomegaly	0	KLF1 CL E G H	10661	613673	Congenital dyserythropoietic anemia, type IV	613673	C3150926	OMIM	1	87	6345	600599
HP:0002240	HP:0002240	Hepatomegaly	0	KRAS CL E G H	3845	648				ORPHA	1	440	6407	190070
HP:0002240	HP:0002240	Hepatomegaly	0	KRAS CL E G H	3845	614470	RAS-associated autoimmune leukoproliferative disorder	614470	C2674723	OMIM	1	440	6407	190070
HP:0002240	HP:0002240	Hepatomegaly	0	LARS CL E G H	51520	615438	Infantile liver failure syndrome 1	615438	C3809522	OMIM	1		6512	151350
HP:0002240	HP:0002240	Hepatomegaly	0	LBR CL E G H	3930	779	Arthrogryposis due to muscular dystrophy			ORPHA	1	285	6518	600024
HP:0002240	HP:0002240	Hepatomegaly	0	LBR CL E G H	3930	215140	Greenberg dysplasia	215140	C2931048	OMIM	1	285	6518	600024
HP:0002240	HP:0002240	Hepatomegaly	0	LBR CL E G H	3930	613471	Reynolds syndrome	613471	C0748397	OMIM	1	285	6518	600024
HP:0002240	HP:0002240	Hepatomegaly	0	LIG4 CL E G H	3981	39041				ORPHA	1	510	6601	601837
HP:0002240	HP:0002240	Hepatomegaly	0	LIPA CL E G H	3988	75233				ORPHA	1	461	6617	613497
HP:0002240	HP:0002240	Hepatomegaly	0	LIPA CL E G H	3988	75234	Cholesteryl ester storage disease		C0008384	ORPHA	1	461	6617	613497
HP:0002240	HP:0002240	Hepatomegaly	0	LIPA CL E G H	3988	278000	Lysosomal acid lipase deficiency	278000	C0043208	OMIM	1	461	6617	613497
HP:0002240	HP:0002240	Hepatomegaly	0	LIPE CL E G H	3991	435660				ORPHA	1	82	6621	151750
HP:0002240	HP:0002240	Hepatomegaly	0	LMNA CL E G H	4000	280365				ORPHA	1	1622	6636	150330
HP:0002240	HP:0002240	Hepatomegaly	0	LMNA CL E G H	4000	79084				ORPHA	1	1622	6636	150330
HP:0002240	HP:0002240	Hepatomegaly	0	LMNA CL E G H	4000	2348				ORPHA	1	1622	6636	150330
HP:0002240	HP:0002240	Hepatomegaly	0	LMNA CL E G H	4000	151660	Familial partial lipodystrophy 2	151660	C1720860	OMIM	1	1622	6636	150330
HP:0002240	HP:0002240	Hepatomegaly	0	LPIN2 CL E G H	9663	77297				ORPHA	1	815	14450	605519
HP:0002240	HP:0002240	Hepatomegaly	0	LRP5 CL E G H	4041	2924	Hypoplastic thumbs hydranencephaly			ORPHA	1	1354	6697	603506
HP:0002240	HP:0002240	Hepatomegaly	0	LYST CL E G H	1130	167				ORPHA	1	1754	1968	606897
HP:0002240	HP:0002240	Hepatomegaly	0	LYST CL E G H	1130	214500	Chédiak-Higashi syndrome	214500	C0007965	OMIM	1	1754	1968	606897
HP:0002240	HP:0002240	Hepatomegaly	0	LYZ CL E G H	4069	105200	Familial visceral amyloidosis, Ostertag type	105200	C0268389	OMIM	1	67	6740	153450
HP:0002240	HP:0002240	Hepatomegaly	0	LZTR1 CL E G H	8216	648				ORPHA	1	2408	6742	600574
HP:0002240	HP:0002240	Hepatomegaly	0	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	1015	6826	609458
HP:0002240	HP:0002240	Hepatomegaly	0	MARS CL E G H	4141	615486	Interstitial lung and liver disease	615486	C4225400	OMIM	1		6898	156560
HP:0002240	HP:0002240	Hepatomegaly	0	MCM4 CL E G H	4173	609981	Natural killer cell and glucocorticoid deficiency with DNA repair defect	609981	C1864947	OMIM	1	370	6947	602638
HP:0002240	HP:0002240	Hepatomegaly	0	MEFV CL E G H	4210	249100	Familial Mediterranean fever	249100	C0031069	OMIM	1	915	6998	608107
HP:0002240	HP:0002240	Hepatomegaly	0	MET CL E G H	4233	33402				ORPHA	1	2682	7029	164860
HP:0002240	HP:0002240	Hepatomegaly	0	MFN2 CL E G H	9927	2398	Froster Iskenius Waterson syndrome			ORPHA	1	1063	16877	608507
HP:0002240	HP:0002240	Hepatomegaly	0	MMAA CL E G H	166785	251100	Methylmalonic aciduria cblA type	251100	C1855109	OMIM	1	418	18871	607481
HP:0002240	HP:0002240	Hepatomegaly	0	MMAB CL E G H	326625	251110	Methylmalonic aciduria cblB type	251110	C1855102	OMIM	1	408	19331	607568
HP:0002240	HP:0002240	Hepatomegaly	0	MMUT CL E G H	4594	289916				ORPHA	1	771	7526	609058
HP:0002240	HP:0002240	Hepatomegaly	0	MMUT CL E G H	4594	251000	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	251000	C1855114	OMIM	1	771	7526	609058
HP:0002240	HP:0002240	Hepatomegaly	0	MOGS CL E G H	7841	606056	Congenital disorder of glycosylation type 2B	606056	C1853736	OMIM	1	346	24862	601336
HP:0002240	HP:0002240	Hepatomegaly	0	MPC1 CL E G H	51660	614741	Mitochondrial pyruvate carrier deficiency	614741	C3553607	OMIM	1	87	21606	614738
HP:0002240	HP:0002240	Hepatomegaly	0	MPI CL E G H	4351	602579	Congenital disorder of glycosylation type 1B	602579	C1865145	OMIM	1	326	7216	154550
HP:0002240	HP:0002240	Hepatomegaly	0	MPL CL E G H	4352	729	Anti-factor 8 autoimmunization			ORPHA	1	447	7217	159530
HP:0002240	HP:0002240	Hepatomegaly	0	MPV17 CL E G H	4358	256810	Navajo neurohepatopathy	256810	C1850406	OMIM	1	200	7224	137960
HP:0002240	HP:0002240	Hepatomegaly	0	MRPL3 CL E G H	11222	614582	Combined oxidative phosphorylation deficiency 9	614582	C3281234	OMIM	1	84	10379	607118
HP:0002240	HP:0002240	Hepatomegaly	0	MRPS7 CL E G H	51081	617872	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34	617872	CN807947	OMIM	1	70	14499	611974
HP:0002240	HP:0002240	Hepatomegaly	0	MST1 CL E G H	4485	171	Le Marec Bracq Picaud syndrome			ORPHA	1	17	7380	142408
HP:0002240	HP:0002240	Hepatomegaly	0	MT-TN CL E G H	4570	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7493	590010
HP:0002240	HP:0002240	Hepatomegaly	0	MT-TS1 CL E G H	4574	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7497	590080
HP:0002240	HP:0002240	Hepatomegaly	0	MT-TW CL E G H	4578	251900	Mitochondrial myopathy	251900	C0162670	OMIM	1		7501	590095
HP:0002240	HP:0002240	Hepatomegaly	0	MVK CL E G H	4598	343				ORPHA	1	470	7530	251170
HP:0002240	HP:0002240	Hepatomegaly	0	NAGA CL E G H	4668	79281				ORPHA	1	183	7631	104170
HP:0002240	HP:0002240	Hepatomegaly	0	NAGLU CL E G H	4669	252920	Mucopolysaccharidosis, MPS-III-B	252920	C0086648	OMIM	1	775	7632	609701
HP:0002240	HP:0002240	Hepatomegaly	0	NCF1 CL E G H	653361	379				ORPHA	1	99	7660	608512
HP:0002240	HP:0002240	Hepatomegaly	0	NCF1 CL E G H	653361	233700	Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1	233700	C1856251	OMIM	1	99	7660	608512
HP:0002240	HP:0002240	Hepatomegaly	0	NCF2 CL E G H	4688	379				ORPHA	1	377	7661	608515
HP:0002240	HP:0002240	Hepatomegaly	0	NCF2 CL E G H	4688	233710	Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2	233710	C1856245	OMIM	1	377	7661	608515
HP:0002240	HP:0002240	Hepatomegaly	0	NCF4 CL E G H	4689	379				ORPHA	1	279	7662	601488
HP:0002240	HP:0002240	Hepatomegaly	0	NDUFAF1 CL E G H	51103	618234	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11	618234		OMIM	1	108	18828	606934
HP:0002240	HP:0002240	Hepatomegaly	0	NEK8 CL E G H	284086	615415	Renal-hepatic-pancreatic dysplasia 2	615415	C3809434	OMIM	1	197	13387	609799
HP:0002240	HP:0002240	Hepatomegaly	0	NEU1 CL E G H	4758	256550	Sialidosis, type II	256550	C0268226	OMIM	1	147	7758	608272
HP:0002240	HP:0002240	Hepatomegaly	0	NHLRC2 CL E G H	374354	618278	618278	618278		OMIM	1	41	24731	0
HP:0002240	HP:0002240	Hepatomegaly	0	NLRC4 CL E G H	58484	1451				ORPHA	1	499	16412	606831
HP:0002240	HP:0002240	Hepatomegaly	0	NLRP3 CL E G H	114548	1451				ORPHA	1	752	16400	606416
HP:0002240	HP:0002240	Hepatomegaly	0	NLRP3 CL E G H	114548	575	Aicardi Goutieres syndrome		C0393591	ORPHA	1	752	16400	606416
HP:0002240	HP:0002240	Hepatomegaly	0	NPC2 CL E G H	10577	607625	Niemann-Pick disease type C2	607625	C1843366	OMIM	1	183	14537	601015
HP:0002240	HP:0002240	Hepatomegaly	0	NPHP3 CL E G H	27031	208540	Renal-hepatic-pancreatic dysplasia	208540	C2673883	OMIM	1	886	7907	608002
HP:0002240	HP:0002240	Hepatomegaly	0	NRAS CL E G H	4893	648				ORPHA	1	250	7989	164790
HP:0002240	HP:0002240	Hepatomegaly	0	NRAS CL E G H	4893	614470	RAS-associated autoimmune leukoproliferative disorder	614470	C2674723	OMIM	1	250	7989	164790
HP:0002240	HP:0002240	Hepatomegaly	0	OCLN CL E G H	100506658	251290	Band-like calcification with simplified gyration and polymicrogyria	251290	C3489725	OMIM	1	103	8104	602876
HP:0002240	HP:0002240	Hepatomegaly	0	OSTM1 CL E G H	28962	259720	Osteopetrosis, autosomal recessive 5	259720	C1968603	OMIM	1	218	21652	607649
HP:0002240	HP:0002240	Hepatomegaly	0	PC CL E G H	5091	266150	Pyruvate carboxylase deficiency	266150	C0034341	OMIM	1	828	8636	608786
HP:0002240	HP:0002240	Hepatomegaly	0	PCCA CL E G H	5095	35				ORPHA	1	908	8653	232000
HP:0002240	HP:0002240	Hepatomegaly	0	PCCA CL E G H	5095	606054	Propionyl-CoA carboxylase deficiency	606054	C0268579	OMIM	1	908	8653	232000
HP:0002240	HP:0002240	Hepatomegaly	0	PCCB CL E G H	5096	35				ORPHA	1	734	8654	232050
HP:0002240	HP:0002240	Hepatomegaly	0	PCCB CL E G H	5096	606054	Propionyl-CoA carboxylase deficiency	606054	C0268579	OMIM	1	734	8654	232050
HP:0002240	HP:0002240	Hepatomegaly	0	PCK1 CL E G H	5105	261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	261680	C1849814	OMIM	1	170	8724	614168
HP:0002240	HP:0002240	Hepatomegaly	0	PDGFB CL E G H	5155	1980				ORPHA	1	105	8800	190040
HP:0002240	HP:0002240	Hepatomegaly	0	PDGFRA CL E G H	5156	607685	Idiopathic hypereosinophilic syndrome	607685	C0206141	OMIM	1	2424	8803	173490
HP:0002240	HP:0002240	Hepatomegaly	0	PDGFRB CL E G H	5159	1980				ORPHA	1	345	8804	173410
HP:0002240	HP:0002240	Hepatomegaly	0	PEPD CL E G H	5184	170100	Prolidase deficiency	170100	C0268532	OMIM	1	362	8840	613230
HP:0002240	HP:0002240	Hepatomegaly	0	PET100 CL E G H	100131801	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	55	40038	614770
HP:0002240	HP:0002240	Hepatomegaly	0	PEX1 CL E G H	5189	912				ORPHA	1	1205	8850	602136
HP:0002240	HP:0002240	Hepatomegaly	0	PEX1 CL E G H	5189	772				ORPHA	1	1205	8850	602136
HP:0002240	HP:0002240	Hepatomegaly	0	PEX1 CL E G H	5189	601539	Peroxisome biogenesis disorder 1B	601539	CN168921	OMIM	1	1205	8850	602136
HP:0002240	HP:0002240	Hepatomegaly	0	PEX1 CL E G H	5189	214100	Zellweger syndrome	214100	C0043459	OMIM	1	1205	8850	602136
HP:0002240	HP:0002240	Hepatomegaly	0	PEX10 CL E G H	5192	772				ORPHA	1	654	8851	602859
HP:0002240	HP:0002240	Hepatomegaly	0	PEX10 CL E G H	5192	912				ORPHA	1	654	8851	602859
HP:0002240	HP:0002240	Hepatomegaly	0	PEX10 CL E G H	5192	614870	Peroxisome biogenesis disorder 6A	614870	C3553947	OMIM	1	654	8851	602859
HP:0002240	HP:0002240	Hepatomegaly	0	PEX11B CL E G H	8799	912				ORPHA	1	350	8853	603867
HP:0002240	HP:0002240	Hepatomegaly	0	PEX11B CL E G H	8799	772				ORPHA	1	350	8853	603867
HP:0002240	HP:0002240	Hepatomegaly	0	PEX12 CL E G H	5193	772				ORPHA	1	360	8854	601758
HP:0002240	HP:0002240	Hepatomegaly	0	PEX12 CL E G H	5193	912				ORPHA	1	360	8854	601758
HP:0002240	HP:0002240	Hepatomegaly	0	PEX12 CL E G H	5193	266510	Infantile Refsum's disease	266510	C0282527	OMIM	1	360	8854	601758
HP:0002240	HP:0002240	Hepatomegaly	0	PEX12 CL E G H	5193	614859	Peroxisome biogenesis disorder 3A	614859	C3553929	OMIM	1	360	8854	601758
HP:0002240	HP:0002240	Hepatomegaly	0	PEX13 CL E G H	5194	912				ORPHA	1	397	8855	601789
HP:0002240	HP:0002240	Hepatomegaly	0	PEX13 CL E G H	5194	772				ORPHA	1	397	8855	601789
HP:0002240	HP:0002240	Hepatomegaly	0	PEX14 CL E G H	5195	772				ORPHA	1	374	8856	601791
HP:0002240	HP:0002240	Hepatomegaly	0	PEX14 CL E G H	5195	912				ORPHA	1	374	8856	601791
HP:0002240	HP:0002240	Hepatomegaly	0	PEX14 CL E G H	5195	614887	Peroxisome biogenesis disorder 13A	614887	C3554004	OMIM	1	374	8856	601791
HP:0002240	HP:0002240	Hepatomegaly	0	PEX16 CL E G H	9409	912				ORPHA	1	346	8857	603360
HP:0002240	HP:0002240	Hepatomegaly	0	PEX16 CL E G H	9409	772				ORPHA	1	346	8857	603360
HP:0002240	HP:0002240	Hepatomegaly	0	PEX16 CL E G H	9409	614876	Peroxisome biogenesis disorder 8A	614876	C3553959	OMIM	1	346	8857	603360
HP:0002240	HP:0002240	Hepatomegaly	0	PEX19 CL E G H	5824	772				ORPHA	1	304	9713	600279
HP:0002240	HP:0002240	Hepatomegaly	0	PEX19 CL E G H	5824	912				ORPHA	1	304	9713	600279
HP:0002240	HP:0002240	Hepatomegaly	0	PEX2 CL E G H	5828	912				ORPHA	1	366	9717	170993
HP:0002240	HP:0002240	Hepatomegaly	0	PEX2 CL E G H	5828	772				ORPHA	1	366	9717	170993
HP:0002240	HP:0002240	Hepatomegaly	0	PEX2 CL E G H	5828	614866	Peroxisome biogenesis disorder 5a (zellweger)	614866	C3553940	OMIM	1	366	9717	170993
HP:0002240	HP:0002240	Hepatomegaly	0	PEX26 CL E G H	55670	772				ORPHA	1	431	22965	608666
HP:0002240	HP:0002240	Hepatomegaly	0	PEX26 CL E G H	55670	912				ORPHA	1	431	22965	608666
HP:0002240	HP:0002240	Hepatomegaly	0	PEX26 CL E G H	55670	614872	Peroxisome biogenesis disorder 7A	614872	C3539168	OMIM	1	431	22965	608666
HP:0002240	HP:0002240	Hepatomegaly	0	PEX3 CL E G H	8504	912				ORPHA	1	271	8858	603164
HP:0002240	HP:0002240	Hepatomegaly	0	PEX3 CL E G H	8504	772				ORPHA	1	271	8858	603164
HP:0002240	HP:0002240	Hepatomegaly	0	PEX3 CL E G H	8504	614882	Peroxisome biogenesis disorder 10A	614882	C3553999	OMIM	1	271	8858	603164
HP:0002240	HP:0002240	Hepatomegaly	0	PEX5 CL E G H	5830	772				ORPHA	1	689	9719	600414
HP:0002240	HP:0002240	Hepatomegaly	0	PEX5 CL E G H	5830	912				ORPHA	1	689	9719	600414
HP:0002240	HP:0002240	Hepatomegaly	0	PEX5 CL E G H	5830	214110	Peroxisome biogenesis disorder 2a (zellweger)	214110	C1859228	OMIM	1	689	9719	600414
HP:0002240	HP:0002240	Hepatomegaly	0	PEX6 CL E G H	5190	912				ORPHA	1	1085	8859	601498
HP:0002240	HP:0002240	Hepatomegaly	0	PEX6 CL E G H	5190	772				ORPHA	1	1085	8859	601498
HP:0002240	HP:0002240	Hepatomegaly	0	PEX6 CL E G H	5190	614862	Peroxisome biogenesis disorder 4a (zellweger)	614862	C3553936	OMIM	1	1085	8859	601498
HP:0002240	HP:0002240	Hepatomegaly	0	PEX6 CL E G H	5190	614863	Peroxisome biogenesis disorder 4B	614863	C3553937	OMIM	1	1085	8859	601498
HP:0002240	HP:0002240	Hepatomegaly	0	PHKA2 CL E G H	5256	306000	Glycogen storage disease type IXa1	306000	C0017927	OMIM	1	507	8926	300798
HP:0002240	HP:0002240	Hepatomegaly	0	PHKB CL E G H	5257	261750	Glycogen storage disease IXb	261750	C0543514	OMIM	1	371	8927	172490
HP:0002240	HP:0002240	Hepatomegaly	0	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	171	8931	172471
HP:0002240	HP:0002240	Hepatomegaly	0	PIGM CL E G H	93183	610293	Glycosylphosphatidylinositol deficiency	610293	C1853205	OMIM	1	56	18858	610273
HP:0002240	HP:0002240	Hepatomegaly	0	PKHD1 CL E G H	5314	263200	Autosomal recessive polycystic kidney disease	263200	C0085548	OMIM	1	3397	9016	606702
HP:0002240	HP:0002240	Hepatomegaly	0	PLAGL1 CL E G H	5325	96191				ORPHA	1	32	9046	603044
HP:0002240	HP:0002240	Hepatomegaly	0	PMM2 CL E G H	5373	212065	Carbohydrate-deficient glycoprotein syndrome type I	212065	C0349653	OMIM	1	609	9115	601785
HP:0002240	HP:0002240	Hepatomegaly	0	PNPLA2 CL E G H	57104	610717	Neutral lipid storage disease with myopathy	610717	C1853136	OMIM	1	443	30802	609059
HP:0002240	HP:0002240	Hepatomegaly	0	POLD1 CL E G H	5424	615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	615381	C3715192	OMIM	1	3858	9175	174761
HP:0002240	HP:0002240	Hepatomegaly	0	POLG CL E G H	5428	203700	Progressive sclerosing poliodystrophy	203700	C0205710	OMIM	1	1917	9179	174763
HP:0002240	HP:0002240	Hepatomegaly	0	PPARG CL E G H	5468	79083				ORPHA	1	139	9236	601487
HP:0002240	HP:0002240	Hepatomegaly	0	PPARG CL E G H	5468	528	Acute myeloblastic leukemia type 3			ORPHA	1	139	9236	601487
HP:0002240	HP:0002240	Hepatomegaly	0	PRF1 CL E G H	5551	603553	Hemophagocytic lymphohistiocytosis, familial, 2	603553	C1863727	OMIM	1	404	9360	170280
HP:0002240	HP:0002240	Hepatomegaly	0	PRKCD CL E G H	5580	615559	Autoimmune lymphoproliferative syndrome, type III	615559	C3809928	OMIM	1	345	9399	176977
HP:0002240	HP:0002240	Hepatomegaly	0	PRKCSH CL E G H	5589	2924	Hypoplastic thumbs hydranencephaly			ORPHA	1	211	9411	177060
HP:0002240	HP:0002240	Hepatomegaly	0	PSAP CL E G H	5660	139406				ORPHA	1	598	9498	176801
HP:0002240	HP:0002240	Hepatomegaly	0	PSAP CL E G H	5660	611721	Combined saposin deficiency	611721	C2673635	OMIM	1	598	9498	176801
HP:0002240	HP:0002240	Hepatomegaly	0	PSMB8 CL E G H	5696	2615				ORPHA	1	161	9545	177046
HP:0002240	HP:0002240	Hepatomegaly	0	PSMB8 CL E G H	5696	256040	Nakajo syndrome	256040	C1850568	OMIM	1	161	9545	177046
HP:0002240	HP:0002240	Hepatomegaly	0	PTPN11 CL E G H	5781	648				ORPHA	1	716	9644	176876
HP:0002240	HP:0002240	Hepatomegaly	0	PTPRC CL E G H	5788	608971	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive	608971	C1837028	OMIM	1	555	9666	151460
HP:0002240	HP:0002240	Hepatomegaly	0	PTRH2 CL E G H	51651	616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	616263	C4015728	OMIM	1	41	24265	608625
HP:0002240	HP:0002240	Hepatomegaly	0	RAB27A CL E G H	5873	79477				ORPHA	1	260	9766	603868
HP:0002240	HP:0002240	Hepatomegaly	0	RAF1 CL E G H	5894	648				ORPHA	1	827	9829	164760
HP:0002240	HP:0002240	Hepatomegaly	0	RAG1 CL E G H	5896	39041				ORPHA	1	521	9831	179615
HP:0002240	HP:0002240	Hepatomegaly	0	RAG1 CL E G H	5896	603554	Histiocytic medullary reticulosis	603554	C1801959	OMIM	1	521	9831	179615
HP:0002240	HP:0002240	Hepatomegaly	0	RAG2 CL E G H	5897	39041				ORPHA	1	362	9832	179616
HP:0002240	HP:0002240	Hepatomegaly	0	RAG2 CL E G H	5897	603554	Histiocytic medullary reticulosis	603554	C1801959	OMIM	1	362	9832	179616
HP:0002240	HP:0002240	Hepatomegaly	0	RASA2 CL E G H	5922	648				ORPHA	1	371	9872	601589
HP:0002240	HP:0002240	Hepatomegaly	0	RFT1 CL E G H	91869	244310				ORPHA	1	399	30220	611908
HP:0002240	HP:0002240	Hepatomegaly	0	RFT1 CL E G H	91869	612015	Congenital disorder of glycosylation type 1N	612015	C2677590	OMIM	1	399	30220	611908
HP:0002240	HP:0002240	Hepatomegaly	0	RHAG CL E G H	6005	185000	Stomatocytosis I	185000	C1861455	OMIM	1	64	10006	180297
HP:0002240	HP:0002240	Hepatomegaly	0	RHBDF2 CL E G H	79651	2198				ORPHA	1	176	20788	614404
HP:0002240	HP:0002240	Hepatomegaly	0	RIT1 CL E G H	6016	648				ORPHA	1	210	10023	609591
HP:0002240	HP:0002240	Hepatomegaly	0	RMRP CL E G H	6023	39041				ORPHA	1	625	10031	157660
HP:0002240	HP:0002240	Hepatomegaly	0	RNASEH2A CL E G H	10535	610333	Aicardi Goutieres syndrome 4	610333	C1835912	OMIM	1	314	18518	606034
HP:0002240	HP:0002240	Hepatomegaly	0	RNU4ATAC CL E G H	100151683	616651	Roifman syndrome	616651	C1846059	OMIM	1	214	34016	601428
HP:0002240	HP:0002240	Hepatomegaly	0	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1135	29168	610937
HP:0002240	HP:0002240	Hepatomegaly	0	RPGRIP1L CL E G H	23322	1454	Common atrioventricular canal		C0221215	ORPHA	1	1135	29168	610937
HP:0002240	HP:0002240	Hepatomegaly	0	RRAS CL E G H	6237	648				ORPHA	1	213	10447	165090
HP:0002240	HP:0002240	Hepatomegaly	0	SAA1 CL E G H	6288	85445				ORPHA	1	28	10513	104750
HP:0002240	HP:0002240	Hepatomegaly	0	SBDS CL E G H	51119	260400	Shwachman syndrome	260400	C0272170	OMIM	1	102	19440	607444
HP:0002240	HP:0002240	Hepatomegaly	0	SC5D CL E G H	6309	46059				ORPHA	1	220	10547	602286
HP:0002240	HP:0002240	Hepatomegaly	0	SCARB2 CL E G H	950	77259				ORPHA	1	422	1665	602257
HP:0002240	HP:0002240	Hepatomegaly	0	SCO1 CL E G H	6341	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	161	10603	603644
HP:0002240	HP:0002240	Hepatomegaly	0	SCYL1 CL E G H	57410	616719	Spinocerebellar ataxia, autosomal recessive 21	616719	C4225236	OMIM	1	73	14372	607982
HP:0002240	HP:0002240	Hepatomegaly	0	SEC63 CL E G H	11231	2924	Hypoplastic thumbs hydranencephaly			ORPHA	1	343	21082	608648
HP:0002240	HP:0002240	Hepatomegaly	0	SEC63 CL E G H	11231	617004	Polycystic liver disease 2	617004	C4310769	OMIM	1	343	21082	608648
HP:0002240	HP:0002240	Hepatomegaly	0	SERPINA1 CL E G H	5265	60				ORPHA	1	377	8941	107400
HP:0002240	HP:0002240	Hepatomegaly	0	SGSH CL E G H	6448	252900	Mucopolysaccharidosis, MPS-III-A	252900	C0086647	OMIM	1	963	10818	605270
HP:0002240	HP:0002240	Hepatomegaly	0	SH2D1A CL E G H	4068	2442				ORPHA	1	281	10820	300490
HP:0002240	HP:0002240	Hepatomegaly	0	SH2D1A CL E G H	4068	308240	Lymphoproliferative syndrome 1, X-linked	308240	C1868674	OMIM	1	281	10820	300490
HP:0002240	HP:0002240	Hepatomegaly	0	SKIV2L CL E G H	6499	614602	Trichohepatoenteric syndrome 2	614602	C3281289	OMIM	1		10898	600478
HP:0002240	HP:0002240	Hepatomegaly	0	SLC17A5 CL E G H	26503	269920	Sialic acid storage disease, severe infantile type	269920	C1096902	OMIM	1	411	10933	604322
HP:0002240	HP:0002240	Hepatomegaly	0	SLC20A2 CL E G H	6575	1980				ORPHA	1	281	10947	158378
HP:0002240	HP:0002240	Hepatomegaly	0	SLC22A5 CL E G H	6584	158				ORPHA	1	874	10969	603377
HP:0002240	HP:0002240	Hepatomegaly	0	SLC22A5 CL E G H	6584	212140	Renal carnitine transport defect	212140	C0342788	OMIM	1	874	10969	603377
HP:0002240	HP:0002240	Hepatomegaly	0	SLC25A15 CL E G H	10166	238970	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	238970	C0268540	OMIM	1	343	10985	603861
HP:0002240	HP:0002240	Hepatomegaly	0	SLC25A19 CL E G H	60386	607196	Amish lethal microcephaly	607196	C1846648	OMIM	1	136	14409	606521
HP:0002240	HP:0002240	Hepatomegaly	0	SLC25A20 CL E G H	788	159				ORPHA	1	145	1421	613698
HP:0002240	HP:0002240	Hepatomegaly	0	SLC25A20 CL E G H	788	212138	Carnitine acylcarnitine translocase deficiency	212138	C0342791	OMIM	1	145	1421	613698
HP:0002240	HP:0002240	Hepatomegaly	0	SLC29A3 CL E G H	55315	602782	Histiocytosis-lymphadenopathy plus syndrome	602782	C1864445	OMIM	1	345	23096	612373
HP:0002240	HP:0002240	Hepatomegaly	0	SLC2A1 CL E G H	6513	608885	Stomatin-deficient cryohydrocytosis with neurologic defects	608885	C1837206	OMIM	1	827	11005	138140
HP:0002240	HP:0002240	Hepatomegaly	0	SLC30A10 CL E G H	55532	309854				ORPHA	1	188	25355	611146
HP:0002240	HP:0002240	Hepatomegaly	0	SLC30A10 CL E G H	55532	613280	Hypermanganesemia with dystonia 1	613280		OMIM	1	188	25355	611146
HP:0002240	HP:0002240	Hepatomegaly	0	SLC37A4 CL E G H	2542	232220	Glucose-6-phosphate transport defect	232220	C0268146	OMIM	1	819	4061	602671
HP:0002240	HP:0002240	Hepatomegaly	0	SLC37A4 CL E G H	2542	232240	Phosphate transport defect	232240	C0342749	OMIM	1	819	4061	602671
HP:0002240	HP:0002240	Hepatomegaly	0	SLC39A4 CL E G H	55630	201100	Hereditary acrodermatitis enteropathica	201100	C0221036	OMIM	1	599	17129	607059
HP:0002240	HP:0002240	Hepatomegaly	0	SLC7A7 CL E G H	9056	222700	Lysinuric protein intolerance	222700	C0268647	OMIM	1	528	11065	603593
HP:0002240	HP:0002240	Hepatomegaly	0	SMPD1 CL E G H	6609	257200	Niemann-Pick disease, type A	257200	C0268242	OMIM	1	747	11120	607608
HP:0002240	HP:0002240	Hepatomegaly	0	SMPD1 CL E G H	6609	607616	Niemann-Pick disease, type B	607616	C0268243	OMIM	1	747	11120	607608
HP:0002240	HP:0002240	Hepatomegaly	0	SNX10 CL E G H	29887	667				ORPHA	1	111	14974	614780
HP:0002240	HP:0002240	Hepatomegaly	0	SNX10 CL E G H	29887	615085	Osteopetrosis, autosomal recessive 8	615085	C3554478	OMIM	1	111	14974	614780
HP:0002240	HP:0002240	Hepatomegaly	0	SOS1 CL E G H	6654	648				ORPHA	1	1224	11187	182530
HP:0002240	HP:0002240	Hepatomegaly	0	SOS2 CL E G H	6655	648				ORPHA	1	916	11188	601247
HP:0002240	HP:0002240	Hepatomegaly	0	SP110 CL E G H	3431	79124				ORPHA	1	341	5401	604457
HP:0002240	HP:0002240	Hepatomegaly	0	SRP54 CL E G H	6729	260400	Shwachman syndrome	260400	C0272170	OMIM	1	145	11301	604857
HP:0002240	HP:0002240	Hepatomegaly	0	STEAP3 CL E G H	55240	615234	Hypochromic microcytic anemia with iron overload 2	615234	C3808920	OMIM	1	51	24592	609671
HP:0002240	HP:0002240	Hepatomegaly	0	SUMF1 CL E G H	285362	585				ORPHA	1	564	20376	607939
HP:0002240	HP:0002240	Hepatomegaly	0	SUMF1 CL E G H	285362	272200	Multiple sulfatase deficiency	272200	C0268263	OMIM	1	564	20376	607939
HP:0002240	HP:0002240	Hepatomegaly	0	TACO1 CL E G H	51204	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	83	24316	612958
HP:0002240	HP:0002240	Hepatomegaly	0	TALDO1 CL E G H	6888	606003	Deficiency of transaldolase	606003	C1291329	OMIM	1	132	11559	602063
HP:0002240	HP:0002240	Hepatomegaly	0	TCF4 CL E G H	6925	171	Le Marec Bracq Picaud syndrome			ORPHA	1	913	11634	602272
HP:0002240	HP:0002240	Hepatomegaly	0	TCIRG1 CL E G H	10312	667				ORPHA	1	860	11647	604592
HP:0002240	HP:0002240	Hepatomegaly	0	TCIRG1 CL E G H	10312	259700	Osteopetrosis autosomal recessive 1	259700	C1850127	OMIM	1	860	11647	604592
HP:0002240	HP:0002240	Hepatomegaly	0	TET2 CL E G H	54790	729	Anti-factor 8 autoimmunization			ORPHA	1	115	25941	612839
HP:0002240	HP:0002240	Hepatomegaly	0	TMEM165 CL E G H	55858	614727	Congenital disorder of glycosylation type 2k	614727	C3553571	OMIM	1	122	30760	614726
HP:0002240	HP:0002240	Hepatomegaly	0	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	674	28396	609884
HP:0002240	HP:0002240	Hepatomegaly	0	TMEM67 CL E G H	91147	1454	Common atrioventricular canal		C0221215	ORPHA	1	674	28396	609884
HP:0002240	HP:0002240	Hepatomegaly	0	TMEM70 CL E G H	54968	1194				ORPHA	1	252	26050	612418
HP:0002240	HP:0002240	Hepatomegaly	0	TNFRSF13B CL E G H	23495	240500	Common variable immunodeficiency 2	240500	C3150354	OMIM	1	341	18153	604907
HP:0002240	HP:0002240	Hepatomegaly	0	TNFRSF13C CL E G H	115650	240500	Common variable immunodeficiency 2	240500	C3150354	OMIM	1	138	17755	606269
HP:0002240	HP:0002240	Hepatomegaly	0	TNFRSF1B CL E G H	7133	3162	Lactate dehydrogenase deficiency type C			ORPHA	1	57	11917	191191
HP:0002240	HP:0002240	Hepatomegaly	0	TNFSF11 CL E G H	8600	667				ORPHA	1	199	11926	602642
HP:0002240	HP:0002240	Hepatomegaly	0	TRAPPC11 CL E G H	60684	369840				ORPHA	1	774	25751	614138
HP:0002240	HP:0002240	Hepatomegaly	0	TRIM37 CL E G H	4591	2576	Grubben de Cock Borghgraef syndrome			ORPHA	1	265	7523	605073
HP:0002240	HP:0002240	Hepatomegaly	0	TRIM37 CL E G H	4591	253250	Mulibrey nanism syndrome	253250	C0524582	OMIM	1	265	7523	605073
HP:0002240	HP:0002240	Hepatomegaly	0	TRMU CL E G H	55687	613070	Liver failure acute infantile	613070	C3278664	OMIM	1	518	25481	610230
HP:0002240	HP:0002240	Hepatomegaly	0	TSFM CL E G H	10102	610505	Combined oxidative phosphorylation deficiency 3	610505	C1864840	OMIM	1	302	12367	604723
HP:0002240	HP:0002240	Hepatomegaly	0	TTC37 CL E G H	9652	222470	Trichohepatoenteric syndrome 1	222470	CN034858	OMIM	1		23639	614589
HP:0002240	HP:0002240	Hepatomegaly	0	TUFM CL E G H	7284	610678	Combined oxidative phosphorylation deficiency 4	610678	C1857682	OMIM	1	273	12420	602389
HP:0002240	HP:0002240	Hepatomegaly	0	UCP2 CL E G H	7351	276556				ORPHA	1	51	12518	601693
HP:0002240	HP:0002240	Hepatomegaly	0	USP18 CL E G H	11274	617397	Pseudo-torch syndrome 2	617397	C4479376	OMIM	1	149	12616	607057
HP:0002240	HP:0002240	Hepatomegaly	0	VPS33A CL E G H	65082	617303	Mucopolysaccharidosis-plus syndrome	617303	C4310627	OMIM	1	165	18179	610034
HP:0002240	HP:0002240	Hepatomegaly	0	VPS45 CL E G H	11311	615285	Severe congenital neutropenia 5, autosomal recessive	615285	C3809031	OMIM	1	339	14579	610035
HP:0002240	HP:0002240	Hepatomegaly	0	WDR35 CL E G H	57539	613610	Cranioectodermal dysplasia 2	613610	C3150874	OMIM	1	523	29250	613602
HP:0002240	HP:0002240	Hepatomegaly	0	WT1 CL E G H	7490	83469				ORPHA	1	1146	12796	607102
HP:0002240	HP:0002240	Hepatomegaly	0	XIAP CL E G H	331	2442				ORPHA	1	454	592	300079
HP:0002240	HP:0002240	Hepatomegaly	0	XIAP CL E G H	331	308240	Lymphoproliferative syndrome 1, X-linked	308240	C1868674	OMIM	1	454	592	300079
HP:0002240	HP:0002240	Hepatomegaly	0	XPR1 CL E G H	9213	1980				ORPHA	1	167	12827	605237
HP:0002240	HP:0002240	Hepatomegaly	0	ZAP70 CL E G H	7535	269840	Severe combined immunodeficiency, atypical	269840	C1849236	OMIM	1	345	12858	176947
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CL E G H	105259599	130650	Beckwith-Wiedemann syndrome	130650	C0004903	OMIM	1	28	0
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	A2ML1 CL E G H	144568	648				ORPHA	1	1146	23336	610627
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ABCA1 CL E G H	19	205400	Tangier disease	205400	C0039292	OMIM	1	993	29	600046
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ABCB11 CL E G H	8647	605479	Benign recurrent intrahepatic cholestasis 2	605479	C2608083	OMIM	1	967	42	603201
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ABCB11 CL E G H	8647	601847	Progressive familial intrahepatic cholestasis 2	601847	C3489789	OMIM	1	967	42	603201
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ABCB4 CL E G H	5244	602347	Progressive familial intrahepatic cholestasis 3	602347	C1865643	OMIM	1	453	45	171060
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ABCC8 CL E G H	6833	276575				ORPHA	1	1569	59	600509
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ABCD3 CL E G H	5825	616278	Bile acid synthesis defect, congenital, 5	616278	C4225390	OMIM	1	50	67	170995
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ABHD5 CL E G H	51099	98907				ORPHA	1	194	21396	604780
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ABHD5 CL E G H	51099	275630	Triglyceride storage disease with ichthyosis	275630	C0268238	OMIM	1	194	21396	604780
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ACADL CL E G H	33	99900				ORPHA	1	38	88	609576
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ACADM CL E G H	34	201450	Medium-chain acyl-coenzyme A dehydrogenase deficiency	201450	C0220710	OMIM	1	635	89	607008
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ACADVL CL E G H	37	201475	Very long chain acyl-CoA dehydrogenase deficiency	201475	C3887523	OMIM	1	1297	92	609575
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ACOX1 CL E G H	51	2971				ORPHA	1	517	119	609751
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ACOX1 CL E G H	51	264470	Pseudoneonatal adrenoleukodystrophy	264470	C1849678	OMIM	1	517	119	609751
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ADA CL E G H	100	39041				ORPHA	1	448	186	608958
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ADA CL E G H	100	102700	Severe combined immunodeficiency due to ADA deficiency	102700	C1863236	OMIM	1	448	186	608958
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ADAMTSL2 CL E G H	9719	231050	Geleophysic dysplasia 1	231050	C3278147	OMIM	1	247	14631	612277
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	AGA CL E G H	175	208400	Aspartylglucosaminuria	208400	C0268225	OMIM	1	413	318	613228
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	AGL CL E G H	178	232400	Glycogen storage disease type III	232400	C0017922	OMIM	1	1774	321	610860
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	AGPAT2 CL E G H	10555	528	Acute myeloblastic leukemia type 3			ORPHA	1	213	325	603100
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	AGPAT2 CL E G H	10555	608594	Congenital generalized lipodystrophy type 1	608594	C1720862	OMIM	1	213	325	603100
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	AKR1D1 CL E G H	6718	79303				ORPHA	1	204	388	604741
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	AKR1D1 CL E G H	6718	235555	Bile acid synthesis defect, congenital, 2	235555	C1856127	OMIM	1	204	388	604741
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	AKT2 CL E G H	208	79085				ORPHA	1	115	392	164731
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ALDOB CL E G H	229	229600	Hereditary fructosuria	229600	C0016751	OMIM	1	371	417	612724
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ALG1 CL E G H	56052	608540	Congenital disorder of glycosylation type 1K	608540	C2931005	OMIM	1	495	18294	605907
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ALG13 CL E G H	79868	300884	Epileptic encephalopathy, early infantile, 36	300884	C3550904	OMIM	1	803	30881	300776
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ALG2 CL E G H	85365	607906	Congenital disorder of glycosylation type 1I	607906	C1842836	OMIM	1	262	23159	607905
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ALG8 CL E G H	79053	608104	Congenital disorder of glycosylation type 1H	608104	C2931002	OMIM	1	225	23161	608103
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ALMS1 CL E G H	7840	203800	Alstrom syndrome	203800	C0268425	OMIM	1	4321	428	606844
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	AMACR CL E G H	23600	214950	Bile acid synthesis defect, congenital, 4	214950	C1858328	OMIM	1	290	451	604489
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	AP3B1 CL E G H	8546	608233	Hermansky Pudlak syndrome 2	608233	C1842362	OMIM	1	532	566	603401
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	AP3D1 CL E G H	8943	617050	Hermansky-Pudlak syndrome 10	617050	C4310746	OMIM	1	596	568	607246
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	APOA1 CL E G H	335	105200	Familial visceral amyloidosis, Ostertag type	105200	C0268389	OMIM	1	192	600	107680
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	APOC2 CL E G H	344	207750	Apolipoprotein C2 deficiency	207750	C1720779	OMIM	1	87	609	608083
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	APOE CL E G H	348	412				ORPHA	1	136	613	107741
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	APOE CL E G H	348	158029				ORPHA	1	136	613	107741
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	APOPT1 CL E G H	84334	436271				ORPHA	1	152	20492	616003
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	APOPT1 CL E G H	84334	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	152	20492	616003
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ARSB CL E G H	411	253200	Mucopolysaccharidosis type VI	253200	C0026709	OMIM	1	692	714	611542
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ASAH1 CL E G H	427	333				ORPHA	1	712	735	613468
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ASAH1 CL E G H	427	228000	Farber disease	228000	C0268255	OMIM	1	712	735	613468
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ASL CL E G H	435	207900	Argininosuccinate lyase deficiency	207900	C0268547	OMIM	1	554	746	608310
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ASS1 CL E G H	445	215700	Citrullinemia type I	215700	C0175683	OMIM	1	571	758	603470
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ATP6AP1 CL E G H	537	300972	Immunodeficiency 47	300972	C4310819	OMIM	1	319	868	300197
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ATP7B CL E G H	540	905				ORPHA	1	1806	870	606882
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ATP7B CL E G H	540	277900	Wilson disease	277900	C0019202	OMIM	1	1806	870	606882
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ATP8B1 CL E G H	5205	243300	Cholestasis, benign recurrent intrahepatic 1	243300	C1855731	OMIM	1	509	3706	602397
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ATP8B1 CL E G H	5205	211600	Progressive intrahepatic cholestasis	211600	C0268312	OMIM	1	509	3706	602397
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ATPAF2 CL E G H	91647	604273	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1	604273	C2700431	OMIM	1	228	18802	608918
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	B2M CL E G H	567	105200	Familial visceral amyloidosis, Ostertag type	105200	C0268389	OMIM	1	45	914	109700
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	BOLA3 CL E G H	388962	614299	Multiple mitochondrial dysfunctions syndrome 2	614299	C3280378	OMIM	1	76	24415	613183
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	BRAF CL E G H	673	648				ORPHA	1	948	1097	164757
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	BSCL2 CL E G H	26580	528	Acute myeloblastic leukemia type 3			ORPHA	1	435	15832	606158
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	BSCL2 CL E G H	26580	269700	Congenital generalized lipodystrophy type 2	269700	C1720863	OMIM	1	435	15832	606158
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	BTD CL E G H	686	253260	Biotinidase deficiency	253260	C0220754	OMIM	1	456	1122	609019
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	C15orf41 CL E G H	84529	615631	ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib	615631	C3810185	OMIM	1		26929	615626
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CA2 CL E G H	760	2785				ORPHA	1	142	1373	611492
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CASP10 CL E G H	843	603909	Autoimmune lymphoproliferative syndrome, type 2A	603909	C1858968	OMIM	1	385	1500	601762
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CASR CL E G H	846	417	Aloi Tomasini Isaia syndrome			ORPHA	1	2039	1514	601199
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CASR CL E G H	846	239200	Neonatal severe hyperparathyroidism	239200	C1832615	OMIM	1	2039	1514	601199
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CAV1 CL E G H	857	528	Acute myeloblastic leukemia type 3			ORPHA	1	115	1527	601047
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CAVIN1 CL E G H	284119	528	Acute myeloblastic leukemia type 3			ORPHA	1	112	9688	603198
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	112	9688	603198
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1176	29253	612013
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CC2D2A CL E G H	57545	1454	Common atrioventricular canal		C0221215	ORPHA	1	1176	29253	612013
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CCDC115 CL E G H	84317	616828	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo	616828	C4225191	OMIM	1	70	28178	613734
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CD19 CL E G H	930	240500	Common variable immunodeficiency 2	240500	C3150354	OMIM	1	325	1633	107265
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CD27 CL E G H	939	615122	Lymphoproliferative syndrome 2	615122	C3554540	OMIM	1	181	11922	186711
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CD28 CL E G H	940	3162	Lactate dehydrogenase deficiency type C			ORPHA	1	33	1653	186760
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CD40LG CL E G H	959	308230	Immunodeficiency with hyper IgM type 1	308230	C0398689	OMIM	1	339	11935	300386
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CD55 CL E G H	1604	226300	Protein-losing enteropathy	226300	C0033680	OMIM	1	137	2665	125240
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CD96 CL E G H	10225	211750	C syndrome	211750	C0796095	OMIM	1	72	16892	606037
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CDKN1C CL E G H	1028	130650	Beckwith-Wiedemann syndrome	130650	C0004903	OMIM	1	912	1786	600856
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CHD7 CL E G H	55636	39041				ORPHA	1	2318	20626	608892
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CIDEC CL E G H	63924	435651				ORPHA	1	81	24229	612120
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CIDEC CL E G H	63924	615238	Familial partial lipodystrophy 5	615238	C3808940	OMIM	1	81	24229	612120
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CLCN7 CL E G H	1186	667				ORPHA	1	729	2025	602727
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CLDN1 CL E G H	9076	59303				ORPHA	1	92	2032	603718
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CLDN1 CL E G H	9076	607626	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis	607626	C1843355	OMIM	1	92	2032	603718
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	COA7 CL E G H	65260	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	32	25716	615623
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	COG7 CL E G H	91949	608779	COG7 congenital disorder of glycosylation	608779	C2931010	OMIM	1	296	18622	606978
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	COX10 CL E G H	1352	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	293	2260	602125
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	COX14 CL E G H	84987	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	28	28216	614478
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	COX20 CL E G H	116228	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	162	26970	614698
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	COX4I2 CL E G H	84701	612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis	612714	C2675184	OMIM	1	55	16232	607976
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	COX6B1 CL E G H	1340	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	52	2280	124089
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	COX8A CL E G H	1351	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	23	2294	123870
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CPOX CL E G H	1371	121300	Hereditary coproporphyria	121300	C0162531	OMIM	1	207	2321	612732
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CPT1A CL E G H	1374	156				ORPHA	1	620	2328	600528
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CPT1A CL E G H	1374	255120	Carnitine palmitoyltransferase I deficiency	255120	C0342789	OMIM	1	620	2328	600528
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CPT2 CL E G H	1376	228308				ORPHA	1	720	2330	600650
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CPT2 CL E G H	1376	228305				ORPHA	1	720	2330	600650
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CPT2 CL E G H	1376	600649	Carnitine palmitoyltransferase II deficiency, infantile	600649	C1833511	OMIM	1	720	2330	600650
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CPT2 CL E G H	1376	608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	608836	C1833518	OMIM	1	720	2330	600650
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CR2 CL E G H	1380	240500	Common variable immunodeficiency 2	240500	C3150354	OMIM	1	516	2336	120650
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CTLA4 CL E G H	1493	616100	Autoimmune lymphoproliferatiVe syndrome, type V	616100	C4015214	OMIM	1	190	2505	123890
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CTLA4 CL E G H	1493	3162	Lactate dehydrogenase deficiency type C			ORPHA	1	190	2505	123890
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CTNNB1 CL E G H	1499	33402				ORPHA	1	468	2514	116806
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CTNS CL E G H	1497	219800	Nephropathic cystinosis	219800	C0010690	OMIM	1	651	2518	606272
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CYBA CL E G H	1535	379				ORPHA	1	392	2577	608508
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CYBA CL E G H	1535	233690	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	233690	C1856255	OMIM	1	392	2577	608508
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CYBB CL E G H	1536	379				ORPHA	1	639	2578	300481
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CYBB CL E G H	1536	306400	Chronic granulomatous disease, X-linked	306400	C1844376	OMIM	1	639	2578	300481
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CYBC1 CL E G H	79415	379				ORPHA	1	110	28672	0
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CYP7B1 CL E G H	9420	79302				ORPHA	1	333	2652	603711
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CYP7B1 CL E G H	9420	613812	Bile acid synthesis defect, congenital, 3	613812	C3151147	OMIM	1	333	2652	603711
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	DCDC2 CL E G H	51473	616217	Nephronophthisis 19	616217	C4015542	OMIM	1	201	18141	605755
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	DCDC2 CL E G H	51473	617394	Sclerosing cholangitis, neonatal	617394	C4479344	OMIM	1	201	18141	605755
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	DCLRE1C CL E G H	64421	39041				ORPHA	1	698	17642	605988
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	DCLRE1C CL E G H	64421	603554	Histiocytic medullary reticulosis	603554	C1801959	OMIM	1	698	17642	605988
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	DDRGK1 CL E G H	65992	93352				ORPHA	1	87	16110	616177
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	DDRGK1 CL E G H	65992	602557	Spondyloepimetaphyseal dysplasia Shohat type	602557	C1865185	OMIM	1	87	16110	616177
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	167	2858	601465
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	DGUOK CL E G H	1716	617068	Portal hypertension, noncirrhotic	617068	C4310735	OMIM	1	167	2858	601465
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	DHDDS CL E G H	79947	613861	Retinitis pigmentosa 59	613861	C3151227	OMIM	1	318	20603	608172
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	DHFR CL E G H	1719	613839	Megaloblastic anemia due to dihydrofolate reductase deficiency	613839	C3151205	OMIM	1	493	2861	126060
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	DIS3L2 CL E G H	129563	2849				ORPHA	1	1714	28648	614184
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	DLD CL E G H	1738	2394	Frontonasal dysplasia Klippel Feil syndrome			ORPHA	1	422	2898	238331
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	DNAJC21 CL E G H	134218	260400	Shwachman syndrome	260400	C0272170	OMIM	1	236	27030	617048
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	DOLK CL E G H	22845	91131				ORPHA	1	424	23406	610746
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	DPM1 CL E G H	8813	608799	Congenital disorder of glycosylation type 1E	608799	C1837396	OMIM	1	203	3005	603503
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	DYNC2LI1 CL E G H	51626	617088	Short-rib thoracic dysplasia 15 with polydactyly	617088	C4310724	OMIM	1	414	24595	617083
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	EIF2AK3 CL E G H	9451	1667	Dandy-Walker malformation with facial hemangioma			ORPHA	1	359	3255	604032
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	EIF2AK3 CL E G H	9451	226980	Wolcott-Rallison dysplasia	226980	C0432217	OMIM	1	359	3255	604032
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ERCC6 CL E G H	2074	133540	Cockayne syndrome B	133540	C0751038	OMIM	1	1170	3438	609413
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ERCC8 CL E G H	1161	216400	Cockayne syndrome type A	216400	C0751039	OMIM	1	390	3439	609412
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ETFA CL E G H	2108	231680	Glutaric aciduria, type 2	231680	C0268596	OMIM	1	331	3481	608053
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ETFB CL E G H	2109	231680	Glutaric aciduria, type 2	231680	C0268596	OMIM	1	192	3482	130410
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ETFDH CL E G H	2110	231680	Glutaric aciduria, type 2	231680	C0268596	OMIM	1	607	3483	231675
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	EWSR1 CL E G H	2130	83469				ORPHA	1	61	3508	133450
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	F5 CL E G H	2153	131	Myeloid sarcoma			ORPHA	1	513	3542	612309
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	FAH CL E G H	2184	276700	Tyrosinemia type I	276700	C0268490	OMIM	1	505	3579	613871
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	FAM111B CL E G H	374393	615704	Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis	615704	C3810325	OMIM	1	31	24200	615584
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	FAS CL E G H	355	601859	Autoimmune lymphoproliferative syndrome	601859	C1328840	OMIM	1	313	11920	134637
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	FASLG CL E G H	356	601859	Autoimmune lymphoproliferative syndrome	601859	C1328840	OMIM	1	158	11936	134638
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	FASTKD2 CL E G H	22868	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	315	29160	612322
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	FBN1 CL E G H	2200	614185	Geleophysic dysplasia 2	614185	C3280054	OMIM	1	5970	3603	134797
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	FBP1 CL E G H	2203	229700	Fructose-biphosphatase deficiency	229700	C0016756	OMIM	1	193	3606	611570
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	FDX2 CL E G H	112812	251900	Mitochondrial myopathy	251900	C0162670	OMIM	1	73	30546	614585
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	FERMT3 CL E G H	83706	612840	Leukocyte adhesion deficiency, type III	612840	C2748536	OMIM	1	343	23151	607901
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	FGA CL E G H	2243	105200	Familial visceral amyloidosis, Ostertag type	105200	C0268389	OMIM	1	168	3661	134820
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	FOS CL E G H	2353	528	Acute myeloblastic leukemia type 3			ORPHA	1	29	3796	164810
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	FUCA1 CL E G H	2517	230000	Fucosidosis	230000	C0016788	OMIM	1	222	4006	612280
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	FUCA1 CL E G H	2517	349	Neuroaxonal dystrophy renal tubular acidosis			ORPHA	1	222	4006	612280
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	G6PC CL E G H	2538	232200	Glycogen storage disease type 1A	232200	C2919796	OMIM	1		4056	613742
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	G6PC3 CL E G H	92579	612541	Severe congenital neutropenia 4, autosomal recessive	612541	C2675526	OMIM	1	218	24861	611045
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	GAA CL E G H	2548	232300	Glycogen storage disease, type II	232300	C0017921	OMIM	1	2068	4065	606800
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	GALE CL E G H	2582	230350	UDPglucose-4-epimerase deficiency	230350	C0751161	OMIM	1	153	4116	606953
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	GALNS CL E G H	2588	253000	Mucopolysaccharidosis, MPS-IV-A	253000	C0086651	OMIM	1	944	4122	612222
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	GALT CL E G H	2592	230400	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	230400	C0268151	OMIM	1	645	4135	606999
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	GATA2 CL E G H	2624	3226	Lethal chondrodysplasia Seller type			ORPHA	1	1118	4171	137295
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	GBA CL E G H	2629	77259				ORPHA	1		4177	606463
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	GBA CL E G H	2629	85212				ORPHA	1		4177	606463
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	GBA CL E G H	2629	77260				ORPHA	1		4177	606463
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	GBA CL E G H	2629	77261				ORPHA	1		4177	606463
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	GBA CL E G H	2629	230900	Acute neuronopathic Gaucher's disease	230900	C0268250	OMIM	1		4177	606463
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	GBA CL E G H	2629	231005	Gaucher disease type 3C	231005	C1856476	OMIM	1		4177	606463
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	GBA CL E G H	2629	608013	Gaucher disease, perinatal lethal	608013	C1842704	OMIM	1		4177	606463
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	GBA CL E G H	2629	230800	Gaucher's disease, type 1	230800	C1961835	OMIM	1		4177	606463
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	GBA CL E G H	2629	231000	Subacute neuronopathic Gaucher's disease	231000	C0268251	OMIM	1		4177	606463
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	GCDH CL E G H	2639	231670	Glutaric aciduria, type 1	231670	C0268595	OMIM	1	600	4189	608801
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	GFM1 CL E G H	85476	609060	Combined oxidative phosphorylation deficiency 1	609060	C1836797	OMIM	1	495	13780	606639
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	GLB1 CL E G H	2720	230500	Infantile GM1 gangliosidosis	230500	C0268271	OMIM	1	696	4298	611458
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	GLB1 CL E G H	2720	253010	Mucopolysaccharidosis, MPS-IV-B	253010	C0086652	OMIM	1	696	4298	611458
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	GLIS3 CL E G H	169792	610199	Diabetes mellitus, neonatal, with congenital hypothyroidism	610199	C1857775	OMIM	1	593	28510	610192
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	GLRX5 CL E G H	51218	616860	Sideroblastic anemia 3, pyridoxine-refractory	616860	C4225155	OMIM	1	77	20134	609588
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	GNE CL E G H	10020	3166	Ladda Zonana Ramer syndrome			ORPHA	1	783	23657	603824
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	GNE CL E G H	10020	269921	Sialuria	269921	C0342853	OMIM	1	783	23657	603824
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	GNMT CL E G H	27232	606664	Glycine N-methyltransferase deficiency	606664	C1847720	OMIM	1	75	4415	606628
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	GNPTAB CL E G H	79158	576				ORPHA	1	1003	29670	607840
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	GNPTAB CL E G H	79158	252500	I cell disease	252500	C2673377	OMIM	1	1003	29670	607840
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	GNS CL E G H	2799	252940	Mucopolysaccharidosis, MPS-III-D	252940	C0086650	OMIM	1	428	4422	607664
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	GPC3 CL E G H	2719	373	Quinquaud's decalvans folliculitis			ORPHA	1	855	4451	300037
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	GPC3 CL E G H	2719	312870	Simpson-Golabi-Behmel syndrome	312870	C0796154	OMIM	1	855	4451	300037
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	GPC4 CL E G H	2239	373	Quinquaud's decalvans folliculitis			ORPHA	1	214	4452	300168
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	GPC4 CL E G H	2239	312870	Simpson-Golabi-Behmel syndrome	312870	C0796154	OMIM	1	214	4452	300168
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	GPD1 CL E G H	2819	614480	Hypertriglyceridemia, transient infantile	614480	C3280953	OMIM	1	76	4455	138420
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	GPIHBP1 CL E G H	338328	615947	Hyperlipoproteinemia, type ID	615947	C4014767	OMIM	1	166	24945	612757
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	GPR35 CL E G H	2859	171	Le Marec Bracq Picaud syndrome			ORPHA	1	120	4492	602646
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	GUCY2D CL E G H	3000	204000	Leber congenital amaurosis 1	204000	C2931258	OMIM	1	838	4689	600179
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	GUSB CL E G H	2990	253220	Mucopolysaccharidosis type VII	253220	C0085132	OMIM	1	277	4696	611499
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	H19 CL E G H	283120	130650	Beckwith-Wiedemann syndrome	130650	C0004903	OMIM	1	58	4713	103280
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	HADHA CL E G H	3030	5				ORPHA	1	630	4801	600890
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	HADHA CL E G H	3030	609016	Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency	609016	CN074230	OMIM	1	630	4801	600890
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	HAMP CL E G H	57817	613313	Hemochromatosis type 2B	613313	C1865616	OMIM	1	63	15598	606464
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	HBA1 CL E G H	3039	163596				ORPHA	1	379	4823	141800
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	HBA1 CL E G H	3039	613978	Hemoglobin H	613978	C3161174	OMIM	1	379	4823	141800
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	HBA2 CL E G H	3040	163596				ORPHA	1	333	4824	141850
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	HBA2 CL E G H	3040	613978	Hemoglobin H	613978	C3161174	OMIM	1	333	4824	141850
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	HBB CL E G H	3043	46532				ORPHA	1	1450	4827	141900
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	HBB CL E G H	3043	231222				ORPHA	1	1450	4827	141900
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	HBB CL E G H	3043	231214				ORPHA	1	1450	4827	141900
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	HBB CL E G H	3043	603903	Hb SS disease	603903	C0002895	OMIM	1	1450	4827	141900
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	HBG1 CL E G H	3047	46532				ORPHA	1	67	4831	142200
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	HBG2 CL E G H	3048	46532				ORPHA	1	78	4832	142250
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	HFE CL E G H	3077	465508				ORPHA	1	185	4886	613609
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	HFE CL E G H	3077	235200	Hemochromatosis type 1	235200	C3469186	OMIM	1	185	4886	613609
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	HGSNAT CL E G H	138050	252930	Mucopolysaccharidosis, MPS-III-C	252930	C0086649	OMIM	1	843	26527	610453
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	HMGCL CL E G H	3155	246450	Deficiency of hydroxymethylglutaryl-CoA lyase	246450	C0268601	OMIM	1	327	5005	613898
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	HMGCS2 CL E G H	3158	605911	mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency	605911	C2751532	OMIM	1	229	5008	600234
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	HMOX1 CL E G H	3162	614034	Heme oxygenase 1 deficiency	614034	C1841651	OMIM	1	124	5013	141250
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	HNF1A CL E G H	6927	324575				ORPHA	1	725	11621	142410
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	HNF4A CL E G H	3172	263455	Hyperinsulinism due to HNF4A deficiency		CN202290	ORPHA	1	448	5024	600281
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	HSD17B4 CL E G H	3295	261515	Bifunctional peroxisomal enzyme deficiency	261515	C0342870	OMIM	1	786	5213	601860
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	HSD3B7 CL E G H	80270	79301				ORPHA	1	109	18324	607764
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	HSD3B7 CL E G H	80270	607765	Bile acid synthesis defect, congenital, 1	607765	C1843116	OMIM	1	109	18324	607764
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	HYMAI CL E G H	57061	96191				ORPHA	1	17	5326	606546
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ICOS CL E G H	29851	607594	Common variable immunodeficiency 1	607594	C3149378	OMIM	1	169	5351	604558
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ICOS CL E G H	29851	240500	Common variable immunodeficiency 2	240500	C3150354	OMIM	1	169	5351	604558
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	IDS CL E G H	3423	309900	Mucopolysaccharidosis, MPS-II	309900	C0026705	OMIM	1	768	5389	300823
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	IDUA CL E G H	3425	93474				ORPHA	1	1313	5391	252800
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	IDUA CL E G H	3425	93473				ORPHA	1	1313	5391	252800
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	IDUA CL E G H	3425	93476				ORPHA	1	1313	5391	252800
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	IDUA CL E G H	3425	607014	Dysostosis multiplex	607014	C0086795	OMIM	1	1313	5391	252800
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	IDUA CL E G H	3425	607015	Mucopolysaccharidosis, MPS-I-H/S	607015	C0086431	OMIM	1	1313	5391	252800
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	IFT122 CL E G H	55764	218330	Cranioectodermal dysplasia 1	218330	C0432235	OMIM	1	462	13556	606045
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	IFT140 CL E G H	9742	266920	Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia	266920	C1849437	OMIM	1	1284	29077	614620
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	IFT172 CL E G H	26160	615630	Short-rib thoracic dysplasia 10 with or without polydactyly	615630	C3810175	OMIM	1	989	30391	607386
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	IGF2 CL E G H	3481	130650	Beckwith-Wiedemann syndrome	130650	C0004903	OMIM	1	98	5466	147470
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	IL1RN CL E G H	3557	612852	Osteomyelitis, sterile multifocal, with periostitis and pustulosis	612852	C2748507	OMIM	1	202	6000	147679
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	IL2RA CL E G H	3559	606367	Interleukin 2 receptor, alpha, deficiency of	606367	C1853392	OMIM	1	265	6008	147730
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	IL2RG CL E G H	3561	39041				ORPHA	1	452	6010	308380
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	IL2RG CL E G H	3561	300400	X-linked severe combined immunodeficiency	300400	C1279481	OMIM	1	452	6010	308380
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	IL7R CL E G H	3575	39041				ORPHA	1	375	6024	146661
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	IL7R CL E G H	3575	608971	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive	608971	C1837028	OMIM	1	375	6024	146661
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	INPP5E CL E G H	56623	1454	Common atrioventricular canal		C0221215	ORPHA	1	620	21474	613037
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ITCH CL E G H	83737	613385	Autoimmune disease, syndromic multisystem	613385	C3150649	OMIM	1	262	13890	606409
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ITK CL E G H	3702	613011	Lymphoproliferative syndrome 1	613011	C3552634	OMIM	1	369	6171	186973
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	JAK2 CL E G H	3717	729	Anti-factor 8 autoimmunization			ORPHA	1	293	6192	147796
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	JAK2 CL E G H	3717	131	Myeloid sarcoma			ORPHA	1	293	6192	147796
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	JAM3 CL E G H	83700	613730	Hemorrhagic destruction of the brain, subependymal calcification, and cataracts	613730	C3151000	OMIM	1	201	15532	606871
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	KAT6B CL E G H	23522	648				ORPHA	1	605	17582	605880
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	KCNH1 CL E G H	3756	135500	Zimmermann-Laband syndrome 1	135500	CN032818	OMIM	1	413	6250	603305
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	KCNJ11 CL E G H	3767	276580				ORPHA	1	380	6257	600937
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	KCNN4 CL E G H	3783	616689	Dehydrated hereditary stomatocytosis 2	616689	C4225242	OMIM	1	42	6293	602754
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	KCNQ1 CL E G H	3784	130650	Beckwith-Wiedemann syndrome	130650	C0004903	OMIM	1	1768	6294	607542
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	KCNQ1OT1 CL E G H	10984	130650	Beckwith-Wiedemann syndrome	130650	C0004903	OMIM	1	232	6295	604115
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	KLF1 CL E G H	10661	46532				ORPHA	1	87	6345	600599
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	KLF1 CL E G H	10661	613673	Congenital dyserythropoietic anemia, type IV	613673	C3150926	OMIM	1	87	6345	600599
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	KRAS CL E G H	3845	648				ORPHA	1	440	6407	190070
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	KRAS CL E G H	3845	614470	RAS-associated autoimmune leukoproliferative disorder	614470	C2674723	OMIM	1	440	6407	190070
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	LARS CL E G H	51520	615438	Infantile liver failure syndrome 1	615438	C3809522	OMIM	1		6512	151350
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	LBR CL E G H	3930	779	Arthrogryposis due to muscular dystrophy			ORPHA	1	285	6518	600024
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	LBR CL E G H	3930	215140	Greenberg dysplasia	215140	C2931048	OMIM	1	285	6518	600024
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	LBR CL E G H	3930	613471	Reynolds syndrome	613471	C0748397	OMIM	1	285	6518	600024
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	LIG4 CL E G H	3981	39041				ORPHA	1	510	6601	601837
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	LIPA CL E G H	3988	75233				ORPHA	1	461	6617	613497
HP:0002240	HP:0006564	Fluctuating hepato