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	30	0
HP:0002240	HP:0002240	Hepatomegaly	0	A2ML1 CL E G H	144568	648				ORPHA	1	1403	23336	610627
HP:0002240	HP:0002240	Hepatomegaly	0	ABCA1 CL E G H	19	205400	Tangier disease	205400	C0039292	OMIM	1	1280	29	600046
HP:0002240	HP:0002240	Hepatomegaly	0	ABCB11 CL E G H	8647	605479	Benign recurrent intrahepatic cholestasis 2	605479	C2608083	OMIM	1	1145	42	603201
HP:0002240	HP:0002240	Hepatomegaly	0	ABCB11 CL E G H	8647	601847	Progressive familial intrahepatic cholestasis 2	601847	C3489789	OMIM	1	1145	42	603201
HP:0002240	HP:0002240	Hepatomegaly	0	ABCB4 CL E G H	5244	602347	Progressive familial intrahepatic cholestasis 3	602347	C1865643	OMIM	1	539	45	171060
HP:0002240	HP:0002240	Hepatomegaly	0	ABCC8 CL E G H	6833	276575				ORPHA	1	1892	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	91	67	170995
HP:0002240	HP:0002240	Hepatomegaly	0	ABHD5 CL E G H	51099	98907				ORPHA	1	291	21396	604780
HP:0002240	HP:0002240	Hepatomegaly	0	ABHD5 CL E G H	51099	275630	Triglyceride storage disease with ichthyosis	275630	C0268238	OMIM	1	291	21396	604780
HP:0002240	HP:0002240	Hepatomegaly	0	ACADL CL E G H	33	99900				ORPHA	1	62	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	749	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	1594	92	609575
HP:0002240	HP:0002240	Hepatomegaly	0	ACOX1 CL E G H	51	2971				ORPHA	1	665	119	609751
HP:0002240	HP:0002240	Hepatomegaly	0	ACOX1 CL E G H	51	264470	Pseudoneonatal adrenoleukodystrophy	264470	C1849678	OMIM	1	665	119	609751
HP:0002240	HP:0002240	Hepatomegaly	0	ADA CL E G H	100	39041				ORPHA	1	544	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	544	186	608958
HP:0002240	HP:0002240	Hepatomegaly	0	ADAMTSL2 CL E G H	9719	231050	Geleophysic dysplasia 1	231050	C3278147	OMIM	1	301	14631	612277
HP:0002240	HP:0002240	Hepatomegaly	0	AGA CL E G H	175	208400	Aspartylglucosaminuria	208400	C0268225	OMIM	1	509	318	613228
HP:0002240	HP:0002240	Hepatomegaly	0	AGL CL E G H	178	232400	Glycogen storage disease type III	232400	C0017922	OMIM	1	2263	321	610860
HP:0002240	HP:0002240	Hepatomegaly	0	AGPAT2 CL E G H	10555	528	Acute myeloblastic leukemia type 3			ORPHA	1	242	325	603100
HP:0002240	HP:0002240	Hepatomegaly	0	AGPAT2 CL E G H	10555	608594	Congenital generalized lipodystrophy type 1	608594	C1720862	OMIM	1	242	325	603100
HP:0002240	HP:0002240	Hepatomegaly	0	AKR1D1 CL E G H	6718	79303				ORPHA	1	225	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	225	388	604741
HP:0002240	HP:0002240	Hepatomegaly	0	AKT2 CL E G H	208	79085				ORPHA	1	146	392	164731
HP:0002240	HP:0002240	Hepatomegaly	0	ALDOB CL E G H	229	229600	Hereditary fructosuria	229600	C0016751	OMIM	1	438	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	648	18294	605907
HP:0002240	HP:0002240	Hepatomegaly	0	ALG13 CL E G H	79868	300884	Epileptic encephalopathy, early infantile, 36	300884	C3550904	OMIM	1	950	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	335	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	286	23161	608103
HP:0002240	HP:0002240	Hepatomegaly	0	ALMS1 CL E G H	7840	203800	Alstrom syndrome	203800	C0268425	OMIM	1	5525	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	392	451	604489
HP:0002240	HP:0002240	Hepatomegaly	0	AP3B1 CL E G H	8546	608233	Hermansky Pudlak syndrome 2	608233	C1842362	OMIM	1	677	566	603401
HP:0002240	HP:0002240	Hepatomegaly	0	AP3D1 CL E G H	8943	617050	Hermansky-Pudlak syndrome 10	617050	C4310746	OMIM	1	893	568	607246
HP:0002240	HP:0002240	Hepatomegaly	0	APOA1 CL E G H	335	105200	Familial visceral amyloidosis, Ostertag type	105200	C0268389	OMIM	1	257	600	107680
HP:0002240	HP:0002240	Hepatomegaly	0	APOC2 CL E G H	344	207750	Apolipoprotein C2 deficiency	207750	C1720779	OMIM	1	106	609	608083
HP:0002240	HP:0002240	Hepatomegaly	0	APOE CL E G H	348	158029				ORPHA	1	166	613	107741
HP:0002240	HP:0002240	Hepatomegaly	0	APOE CL E G H	348	412				ORPHA	1	166	613	107741
HP:0002240	HP:0002240	Hepatomegaly	0	APOPT1 CL E G H	84334	436271				ORPHA	1	197	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	197	20492	616003
HP:0002240	HP:0002240	Hepatomegaly	0	ARSB CL E G H	411	253200	Mucopolysaccharidosis type VI	253200	C0026709	OMIM	1	820	714	611542
HP:0002240	HP:0002240	Hepatomegaly	0	ASAH1 CL E G H	427	333				ORPHA	1	913	735	613468
HP:0002240	HP:0002240	Hepatomegaly	0	ASAH1 CL E G H	427	228000	Farber disease	228000	C0268255	OMIM	1	913	735	613468
HP:0002240	HP:0002240	Hepatomegaly	0	ASL CL E G H	435	207900	Argininosuccinate lyase deficiency	207900	C0268547	OMIM	1	674	746	608310
HP:0002240	HP:0002240	Hepatomegaly	0	ASS1 CL E G H	445	215700	Citrullinemia type I	215700	C0175683	OMIM	1	686	758	603470
HP:0002240	HP:0002240	Hepatomegaly	0	ATP6AP1 CL E G H	537	300972	Immunodeficiency 47	300972	C4310819	OMIM	1	407	868	300197
HP:0002240	HP:0002240	Hepatomegaly	0	ATP7B CL E G H	540	905				ORPHA	1	2303	870	606882
HP:0002240	HP:0002240	Hepatomegaly	0	ATP7B CL E G H	540	277900	Wilson disease	277900	C0019202	OMIM	1	2303	870	606882
HP:0002240	HP:0002240	Hepatomegaly	0	ATP8B1 CL E G H	5205	243300	Cholestasis, benign recurrent intrahepatic 1	243300	C1855731	OMIM	1	571	3706	602397
HP:0002240	HP:0002240	Hepatomegaly	0	ATP8B1 CL E G H	5205	211600	Progressive intrahepatic cholestasis	211600	C0268312	OMIM	1	571	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	281	18802	608918
HP:0002240	HP:0002240	Hepatomegaly	0	B2M CL E G H	567	105200	Familial visceral amyloidosis, Ostertag type	105200	C0268389	OMIM	1	60	914	109700
HP:0002240	HP:0002240	Hepatomegaly	0	BOLA3 CL E G H	388962	614299	Multiple mitochondrial dysfunctions syndrome 2	614299	C3280378	OMIM	1	102	24415	613183
HP:0002240	HP:0002240	Hepatomegaly	0	BRAF CL E G H	673	648				ORPHA	1	1182	1097	164757
HP:0002240	HP:0002240	Hepatomegaly	0	BSCL2 CL E G H	26580	528	Acute myeloblastic leukemia type 3			ORPHA	1	510	15832	606158
HP:0002240	HP:0002240	Hepatomegaly	0	BSCL2 CL E G H	26580	269700	Congenital generalized lipodystrophy type 2	269700	C1720863	OMIM	1	510	15832	606158
HP:0002240	HP:0002240	Hepatomegaly	0	BTD CL E G H	686	253260	Biotinidase deficiency	253260	C0220754	OMIM	1	598	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	184	1373	611492
HP:0002240	HP:0002240	Hepatomegaly	0	CASP10 CL E G H	843	603909	Autoimmune lymphoproliferative syndrome, type 2A	603909	C1858968	OMIM	1	463	1500	601762
HP:0002240	HP:0002240	Hepatomegaly	0	CASR CL E G H	846	417	Aloi Tomasini Isaia syndrome			ORPHA	1	2330	1514	601199
HP:0002240	HP:0002240	Hepatomegaly	0	CASR CL E G H	846	239200	Neonatal severe hyperparathyroidism	239200	C1832615	OMIM	1	2330	1514	601199
HP:0002240	HP:0002240	Hepatomegaly	0	CAV1 CL E G H	857	528	Acute myeloblastic leukemia type 3			ORPHA	1	135	1527	601047
HP:0002240	HP:0002240	Hepatomegaly	0	CAVIN1 CL E G H	284119	528	Acute myeloblastic leukemia type 3			ORPHA	1	128	9688	603198
HP:0002240	HP:0002240	Hepatomegaly	0	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	128	9688	603198
HP:0002240	HP:0002240	Hepatomegaly	0	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0002240	HP:0002240	Hepatomegaly	0	CC2D2A CL E G H	57545	1454	Common atrioventricular canal		C0221215	ORPHA	1	1525	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	87	28178	613734
HP:0002240	HP:0002240	Hepatomegaly	0	CD19 CL E G H	930	240500	Common variable immunodeficiency 2	240500	C3150354	OMIM	1	438	1633	107265
HP:0002240	HP:0002240	Hepatomegaly	0	CD27 CL E G H	939	615122	Lymphoproliferative syndrome 2	615122	C3554540	OMIM	1	221	11922	186711
HP:0002240	HP:0002240	Hepatomegaly	0	CD28 CL E G H	940	3162	Lactate dehydrogenase deficiency type C			ORPHA	1	40	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	387	11935	300386
HP:0002240	HP:0002240	Hepatomegaly	0	CD55 CL E G H	1604	226300	Protein-losing enteropathy	226300	C0033680	OMIM	1	206	2665	125240
HP:0002240	HP:0002240	Hepatomegaly	0	CD96 CL E G H	10225	211750	C syndrome	211750	C0796095	OMIM	1	111	16892	606037
HP:0002240	HP:0002240	Hepatomegaly	0	CDKN1C CL E G H	1028	130650	Beckwith-Wiedemann syndrome	130650	C0004903	OMIM	1	1068	1786	600856
HP:0002240	HP:0002240	Hepatomegaly	0	CHD7 CL E G H	55636	39041				ORPHA	1	2930	20626	608892
HP:0002240	HP:0002240	Hepatomegaly	0	CIDEC CL E G H	63924	435651				ORPHA	1	96	24229	612120
HP:0002240	HP:0002240	Hepatomegaly	0	CIDEC CL E G H	63924	615238	Familial partial lipodystrophy 5	615238	C3808940	OMIM	1	96	24229	612120
HP:0002240	HP:0002240	Hepatomegaly	0	CLCN7 CL E G H	1186	667				ORPHA	1	1009	2025	602727
HP:0002240	HP:0002240	Hepatomegaly	0	CLDN1 CL E G H	9076	59303				ORPHA	1	109	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	109	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	58	25716	615623
HP:0002240	HP:0002240	Hepatomegaly	0	COG7 CL E G H	91949	608779	COG7 congenital disorder of glycosylation	608779	C2931010	OMIM	1	456	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	356	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	38	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	206	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	73	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	68	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	32	2294	123870
HP:0002240	HP:0002240	Hepatomegaly	0	CPOX CL E G H	1371	121300	Hereditary coproporphyria	121300	C0162531	OMIM	1	256	2321	612732
HP:0002240	HP:0002240	Hepatomegaly	0	CPT1A CL E G H	1374	156				ORPHA	1	837	2328	600528
HP:0002240	HP:0002240	Hepatomegaly	0	CPT1A CL E G H	1374	255120	Carnitine palmitoyltransferase I deficiency	255120	C0342789	OMIM	1	837	2328	600528
HP:0002240	HP:0002240	Hepatomegaly	0	CPT2 CL E G H	1376	228305				ORPHA	1	876	2330	600650
HP:0002240	HP:0002240	Hepatomegaly	0	CPT2 CL E G H	1376	228308				ORPHA	1	876	2330	600650
HP:0002240	HP:0002240	Hepatomegaly	0	CPT2 CL E G H	1376	600649	Carnitine palmitoyltransferase II deficiency, infantile	600649	C1833511	OMIM	1	876	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	876	2330	600650
HP:0002240	HP:0002240	Hepatomegaly	0	CR2 CL E G H	1380	240500	Common variable immunodeficiency 2	240500	C3150354	OMIM	1	679	2336	120650
HP:0002240	HP:0002240	Hepatomegaly	0	CTLA4 CL E G H	1493	616100	Autoimmune lymphoproliferatiVe syndrome, type V	616100	C4015214	OMIM	1	232	2505	123890
HP:0002240	HP:0002240	Hepatomegaly	0	CTLA4 CL E G H	1493	3162	Lactate dehydrogenase deficiency type C			ORPHA	1	232	2505	123890
HP:0002240	HP:0002240	Hepatomegaly	0	CTNNB1 CL E G H	1499	33402				ORPHA	1	624	2514	116806
HP:0002240	HP:0002240	Hepatomegaly	0	CTNS CL E G H	1497	219800	Nephropathic cystinosis	219800	C0010690	OMIM	1	778	2518	606272
HP:0002240	HP:0002240	Hepatomegaly	0	CYBA CL E G H	1535	379				ORPHA	1	454	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	454	2577	608508
HP:0002240	HP:0002240	Hepatomegaly	0	CYBB CL E G H	1536	379				ORPHA	1	734	2578	300481
HP:0002240	HP:0002240	Hepatomegaly	0	CYBB CL E G H	1536	306400	Chronic granulomatous disease, X-linked	306400	C1844376	OMIM	1	734	2578	300481
HP:0002240	HP:0002240	Hepatomegaly	0	CYBC1 CL E G H	79415	379				ORPHA	1	163	28672	0
HP:0002240	HP:0002240	Hepatomegaly	0	CYP7B1 CL E G H	9420	79302				ORPHA	1	415	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	415	2652	603711
HP:0002240	HP:0002240	Hepatomegaly	0	DCDC2 CL E G H	51473	616217	Nephronophthisis 19	616217	C4015542	OMIM	1	261	18141	605755
HP:0002240	HP:0002240	Hepatomegaly	0	DCDC2 CL E G H	51473	617394	Sclerosing cholangitis, neonatal	617394	C4479344	OMIM	1	261	18141	605755
HP:0002240	HP:0002240	Hepatomegaly	0	DCLRE1C CL E G H	64421	39041				ORPHA	1	859	17642	605988
HP:0002240	HP:0002240	Hepatomegaly	0	DCLRE1C CL E G H	64421	603554	Histiocytic medullary reticulosis	603554	C1801959	OMIM	1	859	17642	605988
HP:0002240	HP:0002240	Hepatomegaly	0	DDRGK1 CL E G H	65992	93352				ORPHA	1	129	16110	616177
HP:0002240	HP:0002240	Hepatomegaly	0	DDRGK1 CL E G H	65992	602557	Spondyloepimetaphyseal dysplasia Shohat type	602557	C1865185	OMIM	1	129	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	239	2858	601465
HP:0002240	HP:0002240	Hepatomegaly	0	DGUOK CL E G H	1716	617068	Portal hypertension, noncirrhotic	617068	C4310735	OMIM	1	239	2858	601465
HP:0002240	HP:0002240	Hepatomegaly	0	DHDDS CL E G H	79947	613861	Retinitis pigmentosa 59	613861	C3151227	OMIM	1	434	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	582	2861	126060
HP:0002240	HP:0002240	Hepatomegaly	0	DIS3L2 CL E G H	129563	2849				ORPHA	1	2008	28648	614184
HP:0002240	HP:0002240	Hepatomegaly	0	DLD CL E G H	1738	2394	Frontonasal dysplasia Klippel Feil syndrome			ORPHA	1	520	2898	238331
HP:0002240	HP:0002240	Hepatomegaly	0	DNAJC21 CL E G H	134218	260400	Shwachman syndrome	260400	C0272170	OMIM	1	337	27030	617048
HP:0002240	HP:0002240	Hepatomegaly	0	DOLK CL E G H	22845	91131				ORPHA	1	521	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	255	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	567	24595	617083
HP:0002240	HP:0002240	Hepatomegaly	0	EIF2AK3 CL E G H	9451	1667	Dandy-Walker malformation with facial hemangioma			ORPHA	1	520	3255	604032
HP:0002240	HP:0002240	Hepatomegaly	0	EIF2AK3 CL E G H	9451	226980	Wolcott-Rallison dysplasia	226980	C0432217	OMIM	1	520	3255	604032
HP:0002240	HP:0002240	Hepatomegaly	0	ERCC6 CL E G H	2074	133540	Cockayne syndrome B	133540	C0751038	OMIM	1	1645	3438	609413
HP:0002240	HP:0002240	Hepatomegaly	0	ERCC8 CL E G H	1161	216400	Cockayne syndrome type A	216400	C0751039	OMIM	1	484	3439	609412
HP:0002240	HP:0002240	Hepatomegaly	0	ETFA CL E G H	2108	231680	Glutaric aciduria, type 2	231680	C0268596	OMIM	1	430	3481	608053
HP:0002240	HP:0002240	Hepatomegaly	0	ETFB CL E G H	2109	231680	Glutaric aciduria, type 2	231680	C0268596	OMIM	1	265	3482	130410
HP:0002240	HP:0002240	Hepatomegaly	0	ETFDH CL E G H	2110	231680	Glutaric aciduria, type 2	231680	C0268596	OMIM	1	778	3483	231675
HP:0002240	HP:0002240	Hepatomegaly	0	EWSR1 CL E G H	2130	83469				ORPHA	1	74	3508	133450
HP:0002240	HP:0002240	Hepatomegaly	0	F5 CL E G H	2153	131	Myeloid sarcoma			ORPHA	1	601	3542	612309
HP:0002240	HP:0002240	Hepatomegaly	0	FAH CL E G H	2184	276700	Tyrosinemia type I	276700	C0268490	OMIM	1	601	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	64	24200	615584
HP:0002240	HP:0002240	Hepatomegaly	0	FAS CL E G H	355	601859	Autoimmune lymphoproliferative syndrome	601859	C1328840	OMIM	1	387	11920	134637
HP:0002240	HP:0002240	Hepatomegaly	0	FASLG CL E G H	356	601859	Autoimmune lymphoproliferative syndrome	601859	C1328840	OMIM	1	195	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	401	29160	612322
HP:0002240	HP:0002240	Hepatomegaly	0	FBN1 CL E G H	2200	614185	Geleophysic dysplasia 2	614185	C3280054	OMIM	1	6619	3603	134797
HP:0002240	HP:0002240	Hepatomegaly	0	FBP1 CL E G H	2203	229700	Fructose-biphosphatase deficiency	229700	C0016756	OMIM	1	212	3606	611570
HP:0002240	HP:0002240	Hepatomegaly	0	FDX2 CL E G H	112812	251900	Mitochondrial myopathy	251900	C0162670	OMIM	1	125	30546	614585
HP:0002240	HP:0002240	Hepatomegaly	0	FERMT3 CL E G H	83706	612840	Leukocyte adhesion deficiency, type III	612840	C2748536	OMIM	1	444	23151	607901
HP:0002240	HP:0002240	Hepatomegaly	0	FGA CL E G H	2243	105200	Familial visceral amyloidosis, Ostertag type	105200	C0268389	OMIM	1	208	3661	134820
HP:0002240	HP:0002240	Hepatomegaly	0	FOS CL E G H	2353	528	Acute myeloblastic leukemia type 3			ORPHA	1	40	3796	164810
HP:0002240	HP:0002240	Hepatomegaly	0	FUCA1 CL E G H	2517	230000	Fucosidosis	230000	C0016788	OMIM	1	308	4006	612280
HP:0002240	HP:0002240	Hepatomegaly	0	FUCA1 CL E G H	2517	349	Neuroaxonal dystrophy renal tubular acidosis			ORPHA	1	308	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	264	24861	611045
HP:0002240	HP:0002240	Hepatomegaly	0	GAA CL E G H	2548	232300	Glycogen storage disease, type II	232300	C0017921	OMIM	1	2442	4065	606800
HP:0002240	HP:0002240	Hepatomegaly	0	GALE CL E G H	2582	230350	UDPglucose-4-epimerase deficiency	230350	C0751161	OMIM	1	191	4116	606953
HP:0002240	HP:0002240	Hepatomegaly	0	GALNS CL E G H	2588	253000	Mucopolysaccharidosis, MPS-IV-A	253000	C0086651	OMIM	1	1032	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	719	4135	606999
HP:0002240	HP:0002240	Hepatomegaly	0	GATA2 CL E G H	2624	3226	Lethal chondrodysplasia Seller type			ORPHA	1	1314	4171	137295
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	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	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	720	4189	608801
HP:0002240	HP:0002240	Hepatomegaly	0	GFM1 CL E G H	85476	609060	Combined oxidative phosphorylation deficiency 1	609060	C1836797	OMIM	1	650	13780	606639
HP:0002240	HP:0002240	Hepatomegaly	0	GLB1 CL E G H	2720	230500	Infantile GM1 gangliosidosis	230500	C0268271	OMIM	1	937	4298	611458
HP:0002240	HP:0002240	Hepatomegaly	0	GLB1 CL E G H	2720	253010	Mucopolysaccharidosis, MPS-IV-B	253010	C0086652	OMIM	1	937	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	686	28510	610192
HP:0002240	HP:0002240	Hepatomegaly	0	GLRX5 CL E G H	51218	616860	Sideroblastic anemia 3, pyridoxine-refractory	616860	C4225155	OMIM	1	111	20134	609588
HP:0002240	HP:0002240	Hepatomegaly	0	GNE CL E G H	10020	3166	Ladda Zonana Ramer syndrome			ORPHA	1	947	23657	603824
HP:0002240	HP:0002240	Hepatomegaly	0	GNE CL E G H	10020	269921	Sialuria	269921	C0342853	OMIM	1	947	23657	603824
HP:0002240	HP:0002240	Hepatomegaly	0	GNMT CL E G H	27232	606664	Glycine N-methyltransferase deficiency	606664	C1847720	OMIM	1	95	4415	606628
HP:0002240	HP:0002240	Hepatomegaly	0	GNPTAB CL E G H	79158	576				ORPHA	1	1236	29670	607840
HP:0002240	HP:0002240	Hepatomegaly	0	GNPTAB CL E G H	79158	252500	I cell disease	252500	C2673377	OMIM	1	1236	29670	607840
HP:0002240	HP:0002240	Hepatomegaly	0	GNS CL E G H	2799	252940	Mucopolysaccharidosis, MPS-III-D	252940	C0086650	OMIM	1	616	4422	607664
HP:0002240	HP:0002240	Hepatomegaly	0	GPC3 CL E G H	2719	373	Quinquaud's decalvans folliculitis			ORPHA	1	989	4451	300037
HP:0002240	HP:0002240	Hepatomegaly	0	GPC3 CL E G H	2719	312870	Simpson-Golabi-Behmel syndrome	312870	C0796154	OMIM	1	989	4451	300037
HP:0002240	HP:0002240	Hepatomegaly	0	GPC4 CL E G H	2239	373	Quinquaud's decalvans folliculitis			ORPHA	1	243	4452	300168
HP:0002240	HP:0002240	Hepatomegaly	0	GPC4 CL E G H	2239	312870	Simpson-Golabi-Behmel syndrome	312870	C0796154	OMIM	1	243	4452	300168
HP:0002240	HP:0002240	Hepatomegaly	0	GPD1 CL E G H	2819	614480	Hypertriglyceridemia, transient infantile	614480	C3280953	OMIM	1	96	4455	138420
HP:0002240	HP:0002240	Hepatomegaly	0	GPIHBP1 CL E G H	338328	615947	Hyperlipoproteinemia, type ID	615947	C4014767	OMIM	1	187	24945	612757
HP:0002240	HP:0002240	Hepatomegaly	0	GPR35 CL E G H	2859	171	Le Marec Bracq Picaud syndrome			ORPHA	1	139	4492	602646
HP:0002240	HP:0002240	Hepatomegaly	0	GUCY2D CL E G H	3000	204000	Leber congenital amaurosis 1	204000	C2931258	OMIM	1	1048	4689	600179
HP:0002240	HP:0002240	Hepatomegaly	0	GUSB CL E G H	2990	253220	Mucopolysaccharidosis type VII	253220	C0085132	OMIM	1	414	4696	611499
HP:0002240	HP:0002240	Hepatomegaly	0	H19 CL E G H	283120	130650	Beckwith-Wiedemann syndrome	130650	C0004903	OMIM	1	61	4713	103280
HP:0002240	HP:0002240	Hepatomegaly	0	HADHA CL E G H	3030	5				ORPHA	1	792	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	792	4801	600890
HP:0002240	HP:0002240	Hepatomegaly	0	HAMP CL E G H	57817	613313	Hemochromatosis type 2B	613313	C1865616	OMIM	1	67	15598	606464
HP:0002240	HP:0002240	Hepatomegaly	0	HBA1 CL E G H	3039	163596				ORPHA	1	394	4823	141800
HP:0002240	HP:0002240	Hepatomegaly	0	HBA1 CL E G H	3039	613978	Hemoglobin H	613978	C3161174	OMIM	1	394	4823	141800
HP:0002240	HP:0002240	Hepatomegaly	0	HBA2 CL E G H	3040	163596				ORPHA	1	350	4824	141850
HP:0002240	HP:0002240	Hepatomegaly	0	HBA2 CL E G H	3040	613978	Hemoglobin H	613978	C3161174	OMIM	1	350	4824	141850
HP:0002240	HP:0002240	Hepatomegaly	0	HBB CL E G H	3043	231214				ORPHA	1	1600	4827	141900
HP:0002240	HP:0002240	Hepatomegaly	0	HBB CL E G H	3043	46532				ORPHA	1	1600	4827	141900
HP:0002240	HP:0002240	Hepatomegaly	0	HBB CL E G H	3043	231222				ORPHA	1	1600	4827	141900
HP:0002240	HP:0002240	Hepatomegaly	0	HBB CL E G H	3043	603903	Hb SS disease	603903	C0002895	OMIM	1	1600	4827	141900
HP:0002240	HP:0002240	Hepatomegaly	0	HBG1 CL E G H	3047	46532				ORPHA	1	70	4831	142200
HP:0002240	HP:0002240	Hepatomegaly	0	HBG2 CL E G H	3048	46532				ORPHA	1	83	4832	142250
HP:0002240	HP:0002240	Hepatomegaly	0	HFE CL E G H	3077	465508				ORPHA	1	237	4886	613609
HP:0002240	HP:0002240	Hepatomegaly	0	HFE CL E G H	3077	235200	Hemochromatosis type 1	235200	C3469186	OMIM	1	237	4886	613609
HP:0002240	HP:0002240	Hepatomegaly	0	HGSNAT CL E G H	138050	252930	Mucopolysaccharidosis, MPS-III-C	252930	C0086649	OMIM	1	1049	26527	610453
HP:0002240	HP:0002240	Hepatomegaly	0	HMGCL CL E G H	3155	246450	Deficiency of hydroxymethylglutaryl-CoA lyase	246450	C0268601	OMIM	1	420	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	272	5008	600234
HP:0002240	HP:0002240	Hepatomegaly	0	HMOX1 CL E G H	3162	614034	Heme oxygenase 1 deficiency	614034	C1841651	OMIM	1	177	5013	141250
HP:0002240	HP:0002240	Hepatomegaly	0	HNF1A CL E G H	6927	324575				ORPHA	1	821	11621	142410
HP:0002240	HP:0002240	Hepatomegaly	0	HNF4A CL E G H	3172	263455	Hyperinsulinism due to HNF4A deficiency		CN202290	ORPHA	1	509	5024	600281
HP:0002240	HP:0002240	Hepatomegaly	0	HSD17B4 CL E G H	3295	261515	Bifunctional peroxisomal enzyme deficiency	261515	C0342870	OMIM	1	983	5213	601860
HP:0002240	HP:0002240	Hepatomegaly	0	HSD3B7 CL E G H	80270	79301				ORPHA	1	139	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	139	18324	607764
HP:0002240	HP:0002240	Hepatomegaly	0	HYMAI CL E G H	57061	96191				ORPHA	1	18	5326	606546
HP:0002240	HP:0002240	Hepatomegaly	0	ICOS CL E G H	29851	607594	Common variable immunodeficiency 1	607594	C3149378	OMIM	1	191	5351	604558
HP:0002240	HP:0002240	Hepatomegaly	0	ICOS CL E G H	29851	240500	Common variable immunodeficiency 2	240500	C3150354	OMIM	1	191	5351	604558
HP:0002240	HP:0002240	Hepatomegaly	0	IDS CL E G H	3423	309900	Mucopolysaccharidosis, MPS-II	309900	C0026705	OMIM	1	931	5389	300823
HP:0002240	HP:0002240	Hepatomegaly	0	IDUA CL E G H	3425	93473				ORPHA	1	1788	5391	252800
HP:0002240	HP:0002240	Hepatomegaly	0	IDUA CL E G H	3425	93476				ORPHA	1	1788	5391	252800
HP:0002240	HP:0002240	Hepatomegaly	0	IDUA CL E G H	3425	93474				ORPHA	1	1788	5391	252800
HP:0002240	HP:0002240	Hepatomegaly	0	IDUA CL E G H	3425	607014	Dysostosis multiplex	607014	C0086795	OMIM	1	1788	5391	252800
HP:0002240	HP:0002240	Hepatomegaly	0	IDUA CL E G H	3425	607015	Mucopolysaccharidosis, MPS-I-H/S	607015	C0086431	OMIM	1	1788	5391	252800
HP:0002240	HP:0002240	Hepatomegaly	0	IFT122 CL E G H	55764	218330	Cranioectodermal dysplasia 1	218330	C0432235	OMIM	1	648	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	1686	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	1356	30391	607386
HP:0002240	HP:0002240	Hepatomegaly	0	IGF2 CL E G H	3481	130650	Beckwith-Wiedemann syndrome	130650	C0004903	OMIM	1	146	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	226	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	306	6008	147730
HP:0002240	HP:0002240	Hepatomegaly	0	IL2RG CL E G H	3561	39041				ORPHA	1	509	6010	308380
HP:0002240	HP:0002240	Hepatomegaly	0	IL2RG CL E G H	3561	300400	X-linked severe combined immunodeficiency	300400	C1279481	OMIM	1	509	6010	308380
HP:0002240	HP:0002240	Hepatomegaly	0	IL7R CL E G H	3575	39041				ORPHA	1	428	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	428	6024	146661
HP:0002240	HP:0002240	Hepatomegaly	0	INPP5E CL E G H	56623	1454	Common atrioventricular canal		C0221215	ORPHA	1	782	21474	613037
HP:0002240	HP:0002240	Hepatomegaly	0	ITCH CL E G H	83737	613385	Autoimmune disease, syndromic multisystem	613385	C3150649	OMIM	1	371	13890	606409
HP:0002240	HP:0002240	Hepatomegaly	0	ITK CL E G H	3702	613011	Lymphoproliferative syndrome 1	613011	C3552634	OMIM	1	461	6171	186973
HP:0002240	HP:0002240	Hepatomegaly	0	JAK2 CL E G H	3717	729	Anti-factor 8 autoimmunization			ORPHA	1	412	6192	147796
HP:0002240	HP:0002240	Hepatomegaly	0	JAK2 CL E G H	3717	131	Myeloid sarcoma			ORPHA	1	412	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	265	15532	606871
HP:0002240	HP:0002240	Hepatomegaly	0	KAT6B CL E G H	23522	648				ORPHA	1	1003	17582	605880
HP:0002240	HP:0002240	Hepatomegaly	0	KCNH1 CL E G H	3756	135500	Zimmermann-Laband syndrome 1	135500	CN032818	OMIM	1	566	6250	603305
HP:0002240	HP:0002240	Hepatomegaly	0	KCNJ11 CL E G H	3767	276580				ORPHA	1	435	6257	600937
HP:0002240	HP:0002240	Hepatomegaly	0	KCNN4 CL E G H	3783	616689	Dehydrated hereditary stomatocytosis 2	616689	C4225242	OMIM	1	78	6293	602754
HP:0002240	HP:0002240	Hepatomegaly	0	KCNQ1 CL E G H	3784	130650	Beckwith-Wiedemann syndrome	130650	C0004903	OMIM	1	2200	6294	607542
HP:0002240	HP:0002240	Hepatomegaly	0	KCNQ1OT1 CL E G H	10984	130650	Beckwith-Wiedemann syndrome	130650	C0004903	OMIM	1	493	6295	604115
HP:0002240	HP:0002240	Hepatomegaly	0	KLF1 CL E G H	10661	46532				ORPHA	1	129	6345	600599
HP:0002240	HP:0002240	Hepatomegaly	0	KLF1 CL E G H	10661	613673	Congenital dyserythropoietic anemia, type IV	613673	C3150926	OMIM	1	129	6345	600599
HP:0002240	HP:0002240	Hepatomegaly	0	KRAS CL E G H	3845	648				ORPHA	1	480	6407	190070
HP:0002240	HP:0002240	Hepatomegaly	0	KRAS CL E G H	3845	614470	RAS-associated autoimmune leukoproliferative disorder	614470	C2674723	OMIM	1	480	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	357	6518	600024
HP:0002240	HP:0002240	Hepatomegaly	0	LBR CL E G H	3930	215140	Greenberg dysplasia	215140	C2931048	OMIM	1	357	6518	600024
HP:0002240	HP:0002240	Hepatomegaly	0	LBR CL E G H	3930	613471	Reynolds syndrome	613471	C0748397	OMIM	1	357	6518	600024
HP:0002240	HP:0002240	Hepatomegaly	0	LIG4 CL E G H	3981	39041				ORPHA	1	626	6601	601837
HP:0002240	HP:0002240	Hepatomegaly	0	LIPA CL E G H	3988	75233				ORPHA	1	561	6617	613497
HP:0002240	HP:0002240	Hepatomegaly	0	LIPA CL E G H	3988	75234	Cholesteryl ester storage disease		C0008384	ORPHA	1	561	6617	613497
HP:0002240	HP:0002240	Hepatomegaly	0	LIPA CL E G H	3988	278000	Lysosomal acid lipase deficiency	278000	C0043208	OMIM	1	561	6617	613497
HP:0002240	HP:0002240	Hepatomegaly	0	LIPE CL E G H	3991	435660				ORPHA	1	144	6621	151750
HP:0002240	HP:0002240	Hepatomegaly	0	LMNA CL E G H	4000	2348				ORPHA	1	1814	6636	150330
HP:0002240	HP:0002240	Hepatomegaly	0	LMNA CL E G H	4000	79084				ORPHA	1	1814	6636	150330
HP:0002240	HP:0002240	Hepatomegaly	0	LMNA CL E G H	4000	280365				ORPHA	1	1814	6636	150330
HP:0002240	HP:0002240	Hepatomegaly	0	LMNA CL E G H	4000	151660	Familial partial lipodystrophy 2	151660	C1720860	OMIM	1	1814	6636	150330
HP:0002240	HP:0002240	Hepatomegaly	0	LPIN2 CL E G H	9663	77297				ORPHA	1	931	14450	605519
HP:0002240	HP:0002240	Hepatomegaly	0	LRP5 CL E G H	4041	2924	Hypoplastic thumbs hydranencephaly			ORPHA	1	1819	6697	603506
HP:0002240	HP:0002240	Hepatomegaly	0	LYST CL E G H	1130	167				ORPHA	1	2575	1968	606897
HP:0002240	HP:0002240	Hepatomegaly	0	LYST CL E G H	1130	214500	Chédiak-Higashi syndrome	214500	C0007965	OMIM	1	2575	1968	606897
HP:0002240	HP:0002240	Hepatomegaly	0	LYZ CL E G H	4069	105200	Familial visceral amyloidosis, Ostertag type	105200	C0268389	OMIM	1	76	6740	153450
HP:0002240	HP:0002240	Hepatomegaly	0	LZTR1 CL E G H	8216	648				ORPHA	1	2859	6742	600574
HP:0002240	HP:0002240	Hepatomegaly	0	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	1351	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	527	6947	602638
HP:0002240	HP:0002240	Hepatomegaly	0	MEFV CL E G H	4210	249100	Familial Mediterranean fever	249100	C0031069	OMIM	1	1083	6998	608107
HP:0002240	HP:0002240	Hepatomegaly	0	MET CL E G H	4233	33402				ORPHA	1	3184	7029	164860
HP:0002240	HP:0002240	Hepatomegaly	0	MFN2 CL E G H	9927	2398	Froster Iskenius Waterson syndrome			ORPHA	1	1222	16877	608507
HP:0002240	HP:0002240	Hepatomegaly	0	MMAA CL E G H	166785	251100	Methylmalonic aciduria cblA type	251100	C1855109	OMIM	1	483	18871	607481
HP:0002240	HP:0002240	Hepatomegaly	0	MMAB CL E G H	326625	251110	Methylmalonic aciduria cblB type	251110	C1855102	OMIM	1	461	19331	607568
HP:0002240	HP:0002240	Hepatomegaly	0	MMUT CL E G H	4594	289916				ORPHA	1	896	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	896	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	473	24862	601336
HP:0002240	HP:0002240	Hepatomegaly	0	MPC1 CL E G H	51660	614741	Mitochondrial pyruvate carrier deficiency	614741	C3553607	OMIM	1	98	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	398	7216	154550
HP:0002240	HP:0002240	Hepatomegaly	0	MPL CL E G H	4352	729	Anti-factor 8 autoimmunization			ORPHA	1	562	7217	159530
HP:0002240	HP:0002240	Hepatomegaly	0	MPV17 CL E G H	4358	256810	Navajo neurohepatopathy	256810	C1850406	OMIM	1	264	7224	137960
HP:0002240	HP:0002240	Hepatomegaly	0	MRPL3 CL E G H	11222	614582	Combined oxidative phosphorylation deficiency 9	614582	C3281234	OMIM	1	109	10379	607118
HP:0002240	HP:0002240	Hepatomegaly	0	MRPS7 CL E G H	51081	617872	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34	617872	CN807947	OMIM	1	93	14499	611974
HP:0002240	HP:0002240	Hepatomegaly	0	MST1 CL E G H	4485	171	Le Marec Bracq Picaud syndrome			ORPHA	1	57	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	570	7530	251170
HP:0002240	HP:0002240	Hepatomegaly	0	NAGA CL E G H	4668	79281				ORPHA	1	230	7631	104170
HP:0002240	HP:0002240	Hepatomegaly	0	NAGLU CL E G H	4669	252920	Mucopolysaccharidosis, MPS-III-B	252920	C0086648	OMIM	1	1088	7632	609701
HP:0002240	HP:0002240	Hepatomegaly	0	NCF1 CL E G H	653361	379				ORPHA	1	106	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	106	7660	608512
HP:0002240	HP:0002240	Hepatomegaly	0	NCF2 CL E G H	4688	379				ORPHA	1	448	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	448	7661	608515
HP:0002240	HP:0002240	Hepatomegaly	0	NCF4 CL E G H	4689	379				ORPHA	1	356	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	154	18828	606934
HP:0002240	HP:0002240	Hepatomegaly	0	NEK8 CL E G H	284086	615415	Renal-hepatic-pancreatic dysplasia 2	615415	C3809434	OMIM	1	279	13387	609799
HP:0002240	HP:0002240	Hepatomegaly	0	NEU1 CL E G H	4758	256550	Sialidosis, type II	256550	C0268226	OMIM	1	185	7758	608272
HP:0002240	HP:0002240	Hepatomegaly	0	NHLRC2 CL E G H	374354	618278	618278	618278		OMIM	1	67	24731	0
HP:0002240	HP:0002240	Hepatomegaly	0	NLRC4 CL E G H	58484	1451				ORPHA	1	643	16412	606831
HP:0002240	HP:0002240	Hepatomegaly	0	NLRP3 CL E G H	114548	1451				ORPHA	1	917	16400	606416
HP:0002240	HP:0002240	Hepatomegaly	0	NLRP3 CL E G H	114548	575	Aicardi Goutieres syndrome		C0393591	ORPHA	1	917	16400	606416
HP:0002240	HP:0002240	Hepatomegaly	0	NPC2 CL E G H	10577	607625	Niemann-Pick disease type C2	607625	C1843366	OMIM	1	232	14537	601015
HP:0002240	HP:0002240	Hepatomegaly	0	NPHP3 CL E G H	27031	208540	Renal-hepatic-pancreatic dysplasia	208540	C2673883	OMIM	1	1106	7907	608002
HP:0002240	HP:0002240	Hepatomegaly	0	NRAS CL E G H	4893	648				ORPHA	1	281	7989	164790
HP:0002240	HP:0002240	Hepatomegaly	0	NRAS CL E G H	4893	614470	RAS-associated autoimmune leukoproliferative disorder	614470	C2674723	OMIM	1	281	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	138	8104	602876
HP:0002240	HP:0002240	Hepatomegaly	0	OSTM1 CL E G H	28962	259720	Osteopetrosis, autosomal recessive 5	259720	C1968603	OMIM	1	271	21652	607649
HP:0002240	HP:0002240	Hepatomegaly	0	PC CL E G H	5091	266150	Pyruvate carboxylase deficiency	266150	C0034341	OMIM	1	1101	8636	608786
HP:0002240	HP:0002240	Hepatomegaly	0	PCCA CL E G H	5095	35				ORPHA	1	1189	8653	232000
HP:0002240	HP:0002240	Hepatomegaly	0	PCCA CL E G H	5095	606054	Propionyl-CoA carboxylase deficiency	606054	C0268579	OMIM	1	1189	8653	232000
HP:0002240	HP:0002240	Hepatomegaly	0	PCCB CL E G H	5096	35				ORPHA	1	971	8654	232050
HP:0002240	HP:0002240	Hepatomegaly	0	PCCB CL E G H	5096	606054	Propionyl-CoA carboxylase deficiency	606054	C0268579	OMIM	1	971	8654	232050
HP:0002240	HP:0002240	Hepatomegaly	0	PCK1 CL E G H	5105	261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	261680	C1849814	OMIM	1	235	8724	614168
HP:0002240	HP:0002240	Hepatomegaly	0	PDGFB CL E G H	5155	1980				ORPHA	1	151	8800	190040
HP:0002240	HP:0002240	Hepatomegaly	0	PDGFRA CL E G H	5156	607685	Idiopathic hypereosinophilic syndrome	607685	C0206141	OMIM	1	2832	8803	173490
HP:0002240	HP:0002240	Hepatomegaly	0	PDGFRB CL E G H	5159	1980				ORPHA	1	531	8804	173410
HP:0002240	HP:0002240	Hepatomegaly	0	PEPD CL E G H	5184	170100	Prolidase deficiency	170100	C0268532	OMIM	1	496	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	76	40038	614770
HP:0002240	HP:0002240	Hepatomegaly	0	PEX1 CL E G H	5189	772				ORPHA	1	1537	8850	602136
HP:0002240	HP:0002240	Hepatomegaly	0	PEX1 CL E G H	5189	912				ORPHA	1	1537	8850	602136
HP:0002240	HP:0002240	Hepatomegaly	0	PEX1 CL E G H	5189	601539	Peroxisome biogenesis disorder 1B	601539	CN168921	OMIM	1	1537	8850	602136
HP:0002240	HP:0002240	Hepatomegaly	0	PEX1 CL E G H	5189	214100	Zellweger syndrome	214100	C0043459	OMIM	1	1537	8850	602136
HP:0002240	HP:0002240	Hepatomegaly	0	PEX10 CL E G H	5192	912				ORPHA	1	803	8851	602859
HP:0002240	HP:0002240	Hepatomegaly	0	PEX10 CL E G H	5192	772				ORPHA	1	803	8851	602859
HP:0002240	HP:0002240	Hepatomegaly	0	PEX10 CL E G H	5192	614870	Peroxisome biogenesis disorder 6A	614870	C3553947	OMIM	1	803	8851	602859
HP:0002240	HP:0002240	Hepatomegaly	0	PEX11B CL E G H	8799	772				ORPHA	1	415	8853	603867
HP:0002240	HP:0002240	Hepatomegaly	0	PEX11B CL E G H	8799	912				ORPHA	1	415	8853	603867
HP:0002240	HP:0002240	Hepatomegaly	0	PEX12 CL E G H	5193	912				ORPHA	1	459	8854	601758
HP:0002240	HP:0002240	Hepatomegaly	0	PEX12 CL E G H	5193	772				ORPHA	1	459	8854	601758
HP:0002240	HP:0002240	Hepatomegaly	0	PEX12 CL E G H	5193	266510	Infantile Refsum's disease	266510	C0282527	OMIM	1	459	8854	601758
HP:0002240	HP:0002240	Hepatomegaly	0	PEX12 CL E G H	5193	614859	Peroxisome biogenesis disorder 3A	614859	C3553929	OMIM	1	459	8854	601758
HP:0002240	HP:0002240	Hepatomegaly	0	PEX13 CL E G H	5194	772				ORPHA	1	497	8855	601789
HP:0002240	HP:0002240	Hepatomegaly	0	PEX13 CL E G H	5194	912				ORPHA	1	497	8855	601789
HP:0002240	HP:0002240	Hepatomegaly	0	PEX14 CL E G H	5195	912				ORPHA	1	474	8856	601791
HP:0002240	HP:0002240	Hepatomegaly	0	PEX14 CL E G H	5195	772				ORPHA	1	474	8856	601791
HP:0002240	HP:0002240	Hepatomegaly	0	PEX14 CL E G H	5195	614887	Peroxisome biogenesis disorder 13A	614887	C3554004	OMIM	1	474	8856	601791
HP:0002240	HP:0002240	Hepatomegaly	0	PEX16 CL E G H	9409	772				ORPHA	1	470	8857	603360
HP:0002240	HP:0002240	Hepatomegaly	0	PEX16 CL E G H	9409	912				ORPHA	1	470	8857	603360
HP:0002240	HP:0002240	Hepatomegaly	0	PEX16 CL E G H	9409	614876	Peroxisome biogenesis disorder 8A	614876	C3553959	OMIM	1	470	8857	603360
HP:0002240	HP:0002240	Hepatomegaly	0	PEX19 CL E G H	5824	912				ORPHA	1	379	9713	600279
HP:0002240	HP:0002240	Hepatomegaly	0	PEX19 CL E G H	5824	772				ORPHA	1	379	9713	600279
HP:0002240	HP:0002240	Hepatomegaly	0	PEX2 CL E G H	5828	772				ORPHA	1	463	9717	170993
HP:0002240	HP:0002240	Hepatomegaly	0	PEX2 CL E G H	5828	912				ORPHA	1	463	9717	170993
HP:0002240	HP:0002240	Hepatomegaly	0	PEX2 CL E G H	5828	614866	Peroxisome biogenesis disorder 5a (zellweger)	614866	C3553940	OMIM	1	463	9717	170993
HP:0002240	HP:0002240	Hepatomegaly	0	PEX26 CL E G H	55670	912				ORPHA	1	522	22965	608666
HP:0002240	HP:0002240	Hepatomegaly	0	PEX26 CL E G H	55670	772				ORPHA	1	522	22965	608666
HP:0002240	HP:0002240	Hepatomegaly	0	PEX26 CL E G H	55670	614872	Peroxisome biogenesis disorder 7A	614872	C3539168	OMIM	1	522	22965	608666
HP:0002240	HP:0002240	Hepatomegaly	0	PEX3 CL E G H	8504	772				ORPHA	1	358	8858	603164
HP:0002240	HP:0002240	Hepatomegaly	0	PEX3 CL E G H	8504	912				ORPHA	1	358	8858	603164
HP:0002240	HP:0002240	Hepatomegaly	0	PEX3 CL E G H	8504	614882	Peroxisome biogenesis disorder 10A	614882	C3553999	OMIM	1	358	8858	603164
HP:0002240	HP:0002240	Hepatomegaly	0	PEX5 CL E G H	5830	912				ORPHA	1	858	9719	600414
HP:0002240	HP:0002240	Hepatomegaly	0	PEX5 CL E G H	5830	772				ORPHA	1	858	9719	600414
HP:0002240	HP:0002240	Hepatomegaly	0	PEX5 CL E G H	5830	214110	Peroxisome biogenesis disorder 2a (zellweger)	214110	C1859228	OMIM	1	858	9719	600414
HP:0002240	HP:0002240	Hepatomegaly	0	PEX6 CL E G H	5190	772				ORPHA	1	1458	8859	601498
HP:0002240	HP:0002240	Hepatomegaly	0	PEX6 CL E G H	5190	912				ORPHA	1	1458	8859	601498
HP:0002240	HP:0002240	Hepatomegaly	0	PEX6 CL E G H	5190	614862	Peroxisome biogenesis disorder 4a (zellweger)	614862	C3553936	OMIM	1	1458	8859	601498
HP:0002240	HP:0002240	Hepatomegaly	0	PEX6 CL E G H	5190	614863	Peroxisome biogenesis disorder 4B	614863	C3553937	OMIM	1	1458	8859	601498
HP:0002240	HP:0002240	Hepatomegaly	0	PHKA2 CL E G H	5256	306000	Glycogen storage disease type IXa1	306000	C0017927	OMIM	1	596	8926	300798
HP:0002240	HP:0002240	Hepatomegaly	0	PHKB CL E G H	5257	261750	Glycogen storage disease IXb	261750	C0543514	OMIM	1	604	8927	172490
HP:0002240	HP:0002240	Hepatomegaly	0	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	216	8931	172471
HP:0002240	HP:0002240	Hepatomegaly	0	PIGM CL E G H	93183	610293	Glycosylphosphatidylinositol deficiency	610293	C1853205	OMIM	1	89	18858	610273
HP:0002240	HP:0002240	Hepatomegaly	0	PKHD1 CL E G H	5314	263200	Autosomal recessive polycystic kidney disease	263200	C0085548	OMIM	1	4066	9016	606702
HP:0002240	HP:0002240	Hepatomegaly	0	PLAGL1 CL E G H	5325	96191				ORPHA	1	48	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	745	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	566	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	4378	9175	174761
HP:0002240	HP:0002240	Hepatomegaly	0	POLG CL E G H	5428	203700	Progressive sclerosing poliodystrophy	203700	C0205710	OMIM	1	2324	9179	174763
HP:0002240	HP:0002240	Hepatomegaly	0	PPARG CL E G H	5468	79083				ORPHA	1	166	9236	601487
HP:0002240	HP:0002240	Hepatomegaly	0	PPARG CL E G H	5468	528	Acute myeloblastic leukemia type 3			ORPHA	1	166	9236	601487
HP:0002240	HP:0002240	Hepatomegaly	0	PRF1 CL E G H	5551	603553	Hemophagocytic lymphohistiocytosis, familial, 2	603553	C1863727	OMIM	1	505	9360	170280
HP:0002240	HP:0002240	Hepatomegaly	0	PRKCD CL E G H	5580	615559	Autoimmune lymphoproliferative syndrome, type III	615559	C3809928	OMIM	1	458	9399	176977
HP:0002240	HP:0002240	Hepatomegaly	0	PRKCSH CL E G H	5589	2924	Hypoplastic thumbs hydranencephaly			ORPHA	1	302	9411	177060
HP:0002240	HP:0002240	Hepatomegaly	0	PSAP CL E G H	5660	139406				ORPHA	1	772	9498	176801
HP:0002240	HP:0002240	Hepatomegaly	0	PSAP CL E G H	5660	611721	Combined saposin deficiency	611721	C2673635	OMIM	1	772	9498	176801
HP:0002240	HP:0002240	Hepatomegaly	0	PSMB8 CL E G H	5696	2615				ORPHA	1	199	9545	177046
HP:0002240	HP:0002240	Hepatomegaly	0	PSMB8 CL E G H	5696	256040	Nakajo syndrome	256040	C1850568	OMIM	1	199	9545	177046
HP:0002240	HP:0002240	Hepatomegaly	0	PTPN11 CL E G H	5781	648				ORPHA	1	854	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	690	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	49	24265	608625
HP:0002240	HP:0002240	Hepatomegaly	0	RAB27A CL E G H	5873	79477				ORPHA	1	298	9766	603868
HP:0002240	HP:0002240	Hepatomegaly	0	RAF1 CL E G H	5894	648				ORPHA	1	990	9829	164760
HP:0002240	HP:0002240	Hepatomegaly	0	RAG1 CL E G H	5896	39041				ORPHA	1	635	9831	179615
HP:0002240	HP:0002240	Hepatomegaly	0	RAG1 CL E G H	5896	603554	Histiocytic medullary reticulosis	603554	C1801959	OMIM	1	635	9831	179615
HP:0002240	HP:0002240	Hepatomegaly	0	RAG2 CL E G H	5897	39041				ORPHA	1	451	9832	179616
HP:0002240	HP:0002240	Hepatomegaly	0	RAG2 CL E G H	5897	603554	Histiocytic medullary reticulosis	603554	C1801959	OMIM	1	451	9832	179616
HP:0002240	HP:0002240	Hepatomegaly	0	RASA2 CL E G H	5922	648				ORPHA	1	533	9872	601589
HP:0002240	HP:0002240	Hepatomegaly	0	RFT1 CL E G H	91869	244310				ORPHA	1	505	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	505	30220	611908
HP:0002240	HP:0002240	Hepatomegaly	0	RHAG CL E G H	6005	185000	Stomatocytosis I	185000	C1861455	OMIM	1	95	10006	180297
HP:0002240	HP:0002240	Hepatomegaly	0	RHBDF2 CL E G H	79651	2198				ORPHA	1	209	20788	614404
HP:0002240	HP:0002240	Hepatomegaly	0	RIT1 CL E G H	6016	648				ORPHA	1	269	10023	609591
HP:0002240	HP:0002240	Hepatomegaly	0	RMRP CL E G H	6023	39041				ORPHA	1	802	10031	157660
HP:0002240	HP:0002240	Hepatomegaly	0	RNASEH2A CL E G H	10535	610333	Aicardi Goutieres syndrome 4	610333	C1835912	OMIM	1	404	18518	606034
HP:0002240	HP:0002240	Hepatomegaly	0	RNU4ATAC CL E G H	100151683	616651	Roifman syndrome	616651	C1846059	OMIM	1	261	34016	601428
HP:0002240	HP:0002240	Hepatomegaly	0	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0002240	HP:0002240	Hepatomegaly	0	RPGRIP1L CL E G H	23322	1454	Common atrioventricular canal		C0221215	ORPHA	1	1494	29168	610937
HP:0002240	HP:0002240	Hepatomegaly	0	RRAS CL E G H	6237	648				ORPHA	1	260	10447	165090
HP:0002240	HP:0002240	Hepatomegaly	0	SAA1 CL E G H	6288	85445				ORPHA	1	35	10513	104750
HP:0002240	HP:0002240	Hepatomegaly	0	SBDS CL E G H	51119	260400	Shwachman syndrome	260400	C0272170	OMIM	1	119	19440	607444
HP:0002240	HP:0002240	Hepatomegaly	0	SC5D CL E G H	6309	46059				ORPHA	1	242	10547	602286
HP:0002240	HP:0002240	Hepatomegaly	0	SCARB2 CL E G H	950	77259				ORPHA	1	474	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	212	10603	603644
HP:0002240	HP:0002240	Hepatomegaly	0	SCYL1 CL E G H	57410	616719	Spinocerebellar ataxia, autosomal recessive 21	616719	C4225236	OMIM	1	128	14372	607982
HP:0002240	HP:0002240	Hepatomegaly	0	SEC63 CL E G H	11231	2924	Hypoplastic thumbs hydranencephaly			ORPHA	1	408	21082	608648
HP:0002240	HP:0002240	Hepatomegaly	0	SEC63 CL E G H	11231	617004	Polycystic liver disease 2	617004	C4310769	OMIM	1	408	21082	608648
HP:0002240	HP:0002240	Hepatomegaly	0	SERPINA1 CL E G H	5265	60				ORPHA	1	423	8941	107400
HP:0002240	HP:0002240	Hepatomegaly	0	SGSH CL E G H	6448	252900	Mucopolysaccharidosis, MPS-III-A	252900	C0086647	OMIM	1	1230	10818	605270
HP:0002240	HP:0002240	Hepatomegaly	0	SH2D1A CL E G H	4068	2442				ORPHA	1	299	10820	300490
HP:0002240	HP:0002240	Hepatomegaly	0	SH2D1A CL E G H	4068	308240	Lymphoproliferative syndrome 1, X-linked	308240	C1868674	OMIM	1	299	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	520	10933	604322
HP:0002240	HP:0002240	Hepatomegaly	0	SLC20A2 CL E G H	6575	1980				ORPHA	1	337	10947	158378
HP:0002240	HP:0002240	Hepatomegaly	0	SLC22A5 CL E G H	6584	158				ORPHA	1	1027	10969	603377
HP:0002240	HP:0002240	Hepatomegaly	0	SLC22A5 CL E G H	6584	212140	Renal carnitine transport defect	212140	C0342788	OMIM	1	1027	10969	603377
HP:0002240	HP:0002240	Hepatomegaly	0	SLC25A15 CL E G H	10166	238970	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	238970	C0268540	OMIM	1	405	10985	603861
HP:0002240	HP:0002240	Hepatomegaly	0	SLC25A19 CL E G H	60386	607196	Amish lethal microcephaly	607196	C1846648	OMIM	1	182	14409	606521
HP:0002240	HP:0002240	Hepatomegaly	0	SLC25A20 CL E G H	788	159				ORPHA	1	197	1421	613698
HP:0002240	HP:0002240	Hepatomegaly	0	SLC25A20 CL E G H	788	212138	Carnitine acylcarnitine translocase deficiency	212138	C0342791	OMIM	1	197	1421	613698
HP:0002240	HP:0002240	Hepatomegaly	0	SLC29A3 CL E G H	55315	602782	Histiocytosis-lymphadenopathy plus syndrome	602782	C1864445	OMIM	1	447	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	965	11005	138140
HP:0002240	HP:0002240	Hepatomegaly	0	SLC30A10 CL E G H	55532	309854				ORPHA	1	275	25355	611146
HP:0002240	HP:0002240	Hepatomegaly	0	SLC30A10 CL E G H	55532	613280	Hypermanganesemia with dystonia 1	613280		OMIM	1	275	25355	611146
HP:0002240	HP:0002240	Hepatomegaly	0	SLC37A4 CL E G H	2542	232220	Glucose-6-phosphate transport defect	232220	C0268146	OMIM	1	903	4061	602671
HP:0002240	HP:0002240	Hepatomegaly	0	SLC37A4 CL E G H	2542	232240	Phosphate transport defect	232240	C0342749	OMIM	1	903	4061	602671
HP:0002240	HP:0002240	Hepatomegaly	0	SLC39A4 CL E G H	55630	201100	Hereditary acrodermatitis enteropathica	201100	C0221036	OMIM	1	736	17129	607059
HP:0002240	HP:0002240	Hepatomegaly	0	SLC7A7 CL E G H	9056	222700	Lysinuric protein intolerance	222700	C0268647	OMIM	1	671	11065	603593
HP:0002240	HP:0002240	Hepatomegaly	0	SMPD1 CL E G H	6609	257200	Niemann-Pick disease, type A	257200	C0268242	OMIM	1	864	11120	607608
HP:0002240	HP:0002240	Hepatomegaly	0	SMPD1 CL E G H	6609	607616	Niemann-Pick disease, type B	607616	C0268243	OMIM	1	864	11120	607608
HP:0002240	HP:0002240	Hepatomegaly	0	SNX10 CL E G H	29887	667				ORPHA	1	147	14974	614780
HP:0002240	HP:0002240	Hepatomegaly	0	SNX10 CL E G H	29887	615085	Osteopetrosis, autosomal recessive 8	615085	C3554478	OMIM	1	147	14974	614780
HP:0002240	HP:0002240	Hepatomegaly	0	SOS1 CL E G H	6654	648				ORPHA	1	1503	11187	182530
HP:0002240	HP:0002240	Hepatomegaly	0	SOS2 CL E G H	6655	648				ORPHA	1	1250	11188	601247
HP:0002240	HP:0002240	Hepatomegaly	0	SP110 CL E G H	3431	79124				ORPHA	1	437	5401	604457
HP:0002240	HP:0002240	Hepatomegaly	0	SRP54 CL E G H	6729	260400	Shwachman syndrome	260400	C0272170	OMIM	1	204	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	94	24592	609671
HP:0002240	HP:0002240	Hepatomegaly	0	SUMF1 CL E G H	285362	585				ORPHA	1	746	20376	607939
HP:0002240	HP:0002240	Hepatomegaly	0	SUMF1 CL E G H	285362	272200	Multiple sulfatase deficiency	272200	C0268263	OMIM	1	746	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	117	24316	612958
HP:0002240	HP:0002240	Hepatomegaly	0	TALDO1 CL E G H	6888	606003	Deficiency of transaldolase	606003	C1291329	OMIM	1	210	11559	602063
HP:0002240	HP:0002240	Hepatomegaly	0	TCF4 CL E G H	6925	171	Le Marec Bracq Picaud syndrome			ORPHA	1	1069	11634	602272
HP:0002240	HP:0002240	Hepatomegaly	0	TCIRG1 CL E G H	10312	667				ORPHA	1	1157	11647	604592
HP:0002240	HP:0002240	Hepatomegaly	0	TCIRG1 CL E G H	10312	259700	Osteopetrosis autosomal recessive 1	259700	C1850127	OMIM	1	1157	11647	604592
HP:0002240	HP:0002240	Hepatomegaly	0	TET2 CL E G H	54790	729	Anti-factor 8 autoimmunization			ORPHA	1	326	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	175	30760	614726
HP:0002240	HP:0002240	Hepatomegaly	0	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0002240	HP:0002240	Hepatomegaly	0	TMEM67 CL E G H	91147	1454	Common atrioventricular canal		C0221215	ORPHA	1	928	28396	609884
HP:0002240	HP:0002240	Hepatomegaly	0	TMEM70 CL E G H	54968	1194				ORPHA	1	325	26050	612418
HP:0002240	HP:0002240	Hepatomegaly	0	TNFRSF13B CL E G H	23495	240500	Common variable immunodeficiency 2	240500	C3150354	OMIM	1	404	18153	604907
HP:0002240	HP:0002240	Hepatomegaly	0	TNFRSF13C CL E G H	115650	240500	Common variable immunodeficiency 2	240500	C3150354	OMIM	1	158	17755	606269
HP:0002240	HP:0002240	Hepatomegaly	0	TNFRSF1B CL E G H	7133	3162	Lactate dehydrogenase deficiency type C			ORPHA	1	66	11917	191191
HP:0002240	HP:0002240	Hepatomegaly	0	TNFSF11 CL E G H	8600	667				ORPHA	1	246	11926	602642
HP:0002240	HP:0002240	Hepatomegaly	0	TRAPPC11 CL E G H	60684	369840				ORPHA	1	983	25751	614138
HP:0002240	HP:0002240	Hepatomegaly	0	TRIM37 CL E G H	4591	2576	Grubben de Cock Borghgraef syndrome			ORPHA	1	374	7523	605073
HP:0002240	HP:0002240	Hepatomegaly	0	TRIM37 CL E G H	4591	253250	Mulibrey nanism syndrome	253250	C0524582	OMIM	1	374	7523	605073
HP:0002240	HP:0002240	Hepatomegaly	0	TRMU CL E G H	55687	613070	Liver failure acute infantile	613070	C3278664	OMIM	1	623	25481	610230
HP:0002240	HP:0002240	Hepatomegaly	0	TSFM CL E G H	10102	610505	Combined oxidative phosphorylation deficiency 3	610505	C1864840	OMIM	1	434	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	323	12420	602389
HP:0002240	HP:0002240	Hepatomegaly	0	UCP2 CL E G H	7351	276556				ORPHA	1	74	12518	601693
HP:0002240	HP:0002240	Hepatomegaly	0	USP18 CL E G H	11274	617397	Pseudo-torch syndrome 2	617397	C4479376	OMIM	1	165	12616	607057
HP:0002240	HP:0002240	Hepatomegaly	0	VPS33A CL E G H	65082	617303	Mucopolysaccharidosis-plus syndrome	617303	C4310627	OMIM	1	274	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	452	14579	610035
HP:0002240	HP:0002240	Hepatomegaly	0	WDR35 CL E G H	57539	613610	Cranioectodermal dysplasia 2	613610	C3150874	OMIM	1	615	29250	613602
HP:0002240	HP:0002240	Hepatomegaly	0	WT1 CL E G H	7490	83469				ORPHA	1	1371	12796	607102
HP:0002240	HP:0002240	Hepatomegaly	0	XIAP CL E G H	331	2442				ORPHA	1	502	592	300079
HP:0002240	HP:0002240	Hepatomegaly	0	XIAP CL E G H	331	308240	Lymphoproliferative syndrome 1, X-linked	308240	C1868674	OMIM	1	502	592	300079
HP:0002240	HP:0002240	Hepatomegaly	0	XPR1 CL E G H	9213	1980				ORPHA	1	234	12827	605237
HP:0002240	HP:0002240	Hepatomegaly	0	ZAP70 CL E G H	7535	269840	Severe combined immunodeficiency, atypical	269840	C1849236	OMIM	1	419	12858	176947
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CL E G H	105259599	130650	Beckwith-Wiedemann syndrome	130650	C0004903	OMIM	1	30	0
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	A2ML1 CL E G H	144568	648				ORPHA	1	1403	23336	610627
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ABCA1 CL E G H	19	205400	Tangier disease	205400	C0039292	OMIM	1	1280	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	1145	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	1145	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	539	45	171060
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ABCC8 CL E G H	6833	276575				ORPHA	1	1892	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	91	67	170995
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ABHD5 CL E G H	51099	98907				ORPHA	1	291	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	291	21396	604780
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ACADL CL E G H	33	99900				ORPHA	1	62	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	749	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	1594	92	609575
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ACOX1 CL E G H	51	2971				ORPHA	1	665	119	609751
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ACOX1 CL E G H	51	264470	Pseudoneonatal adrenoleukodystrophy	264470	C1849678	OMIM	1	665	119	609751
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ADA CL E G H	100	39041				ORPHA	1	544	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	544	186	608958
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ADAMTSL2 CL E G H	9719	231050	Geleophysic dysplasia 1	231050	C3278147	OMIM	1	301	14631	612277
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	AGA CL E G H	175	208400	Aspartylglucosaminuria	208400	C0268225	OMIM	1	509	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	2263	321	610860
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	AGPAT2 CL E G H	10555	528	Acute myeloblastic leukemia type 3			ORPHA	1	242	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	242	325	603100
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	AKR1D1 CL E G H	6718	79303				ORPHA	1	225	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	225	388	604741
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	AKT2 CL E G H	208	79085				ORPHA	1	146	392	164731
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ALDOB CL E G H	229	229600	Hereditary fructosuria	229600	C0016751	OMIM	1	438	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	648	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	950	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	335	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	286	23161	608103
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ALMS1 CL E G H	7840	203800	Alstrom syndrome	203800	C0268425	OMIM	1	5525	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	392	451	604489
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	AP3B1 CL E G H	8546	608233	Hermansky Pudlak syndrome 2	608233	C1842362	OMIM	1	677	566	603401
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	AP3D1 CL E G H	8943	617050	Hermansky-Pudlak syndrome 10	617050	C4310746	OMIM	1	893	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	257	600	107680
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	APOC2 CL E G H	344	207750	Apolipoprotein C2 deficiency	207750	C1720779	OMIM	1	106	609	608083
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	APOE CL E G H	348	158029				ORPHA	1	166	613	107741
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	APOE CL E G H	348	412				ORPHA	1	166	613	107741
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	APOPT1 CL E G H	84334	436271				ORPHA	1	197	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	197	20492	616003
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ARSB CL E G H	411	253200	Mucopolysaccharidosis type VI	253200	C0026709	OMIM	1	820	714	611542
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ASAH1 CL E G H	427	333				ORPHA	1	913	735	613468
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ASAH1 CL E G H	427	228000	Farber disease	228000	C0268255	OMIM	1	913	735	613468
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ASL CL E G H	435	207900	Argininosuccinate lyase deficiency	207900	C0268547	OMIM	1	674	746	608310
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ASS1 CL E G H	445	215700	Citrullinemia type I	215700	C0175683	OMIM	1	686	758	603470
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ATP6AP1 CL E G H	537	300972	Immunodeficiency 47	300972	C4310819	OMIM	1	407	868	300197
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ATP7B CL E G H	540	905				ORPHA	1	2303	870	606882
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ATP7B CL E G H	540	277900	Wilson disease	277900	C0019202	OMIM	1	2303	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	571	3706	602397
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ATP8B1 CL E G H	5205	211600	Progressive intrahepatic cholestasis	211600	C0268312	OMIM	1	571	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	281	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	60	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	102	24415	613183
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	BRAF CL E G H	673	648				ORPHA	1	1182	1097	164757
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	BSCL2 CL E G H	26580	528	Acute myeloblastic leukemia type 3			ORPHA	1	510	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	510	15832	606158
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	BTD CL E G H	686	253260	Biotinidase deficiency	253260	C0220754	OMIM	1	598	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	184	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	463	1500	601762
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CASR CL E G H	846	417	Aloi Tomasini Isaia syndrome			ORPHA	1	2330	1514	601199
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CASR CL E G H	846	239200	Neonatal severe hyperparathyroidism	239200	C1832615	OMIM	1	2330	1514	601199
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CAV1 CL E G H	857	528	Acute myeloblastic leukemia type 3			ORPHA	1	135	1527	601047
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CAVIN1 CL E G H	284119	528	Acute myeloblastic leukemia type 3			ORPHA	1	128	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	128	9688	603198
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CC2D2A CL E G H	57545	1454	Common atrioventricular canal		C0221215	ORPHA	1	1525	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	87	28178	613734
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CD19 CL E G H	930	240500	Common variable immunodeficiency 2	240500	C3150354	OMIM	1	438	1633	107265
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CD27 CL E G H	939	615122	Lymphoproliferative syndrome 2	615122	C3554540	OMIM	1	221	11922	186711
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CD28 CL E G H	940	3162	Lactate dehydrogenase deficiency type C			ORPHA	1	40	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	387	11935	300386
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CD55 CL E G H	1604	226300	Protein-losing enteropathy	226300	C0033680	OMIM	1	206	2665	125240
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CD96 CL E G H	10225	211750	C syndrome	211750	C0796095	OMIM	1	111	16892	606037
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CDKN1C CL E G H	1028	130650	Beckwith-Wiedemann syndrome	130650	C0004903	OMIM	1	1068	1786	600856
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CHD7 CL E G H	55636	39041				ORPHA	1	2930	20626	608892
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CIDEC CL E G H	63924	435651				ORPHA	1	96	24229	612120
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CIDEC CL E G H	63924	615238	Familial partial lipodystrophy 5	615238	C3808940	OMIM	1	96	24229	612120
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CLCN7 CL E G H	1186	667				ORPHA	1	1009	2025	602727
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CLDN1 CL E G H	9076	59303				ORPHA	1	109	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	109	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	58	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	456	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	356	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	38	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	206	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	73	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	68	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	32	2294	123870
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CPOX CL E G H	1371	121300	Hereditary coproporphyria	121300	C0162531	OMIM	1	256	2321	612732
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CPT1A CL E G H	1374	156				ORPHA	1	837	2328	600528
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CPT1A CL E G H	1374	255120	Carnitine palmitoyltransferase I deficiency	255120	C0342789	OMIM	1	837	2328	600528
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CPT2 CL E G H	1376	228305				ORPHA	1	876	2330	600650
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CPT2 CL E G H	1376	228308				ORPHA	1	876	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	876	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	876	2330	600650
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CR2 CL E G H	1380	240500	Common variable immunodeficiency 2	240500	C3150354	OMIM	1	679	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	232	2505	123890
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CTLA4 CL E G H	1493	3162	Lactate dehydrogenase deficiency type C			ORPHA	1	232	2505	123890
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CTNNB1 CL E G H	1499	33402				ORPHA	1	624	2514	116806
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CTNS CL E G H	1497	219800	Nephropathic cystinosis	219800	C0010690	OMIM	1	778	2518	606272
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CYBA CL E G H	1535	379				ORPHA	1	454	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	454	2577	608508
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CYBB CL E G H	1536	379				ORPHA	1	734	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	734	2578	300481
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CYBC1 CL E G H	79415	379				ORPHA	1	163	28672	0
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CYP7B1 CL E G H	9420	79302				ORPHA	1	415	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	415	2652	603711
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	DCDC2 CL E G H	51473	616217	Nephronophthisis 19	616217	C4015542	OMIM	1	261	18141	605755
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	DCDC2 CL E G H	51473	617394	Sclerosing cholangitis, neonatal	617394	C4479344	OMIM	1	261	18141	605755
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	DCLRE1C CL E G H	64421	39041				ORPHA	1	859	17642	605988
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	DCLRE1C CL E G H	64421	603554	Histiocytic medullary reticulosis	603554	C1801959	OMIM	1	859	17642	605988
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	DDRGK1 CL E G H	65992	93352				ORPHA	1	129	16110	616177
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	DDRGK1 CL E G H	65992	602557	Spondyloepimetaphyseal dysplasia Shohat type	602557	C1865185	OMIM	1	129	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	239	2858	601465
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	DGUOK CL E G H	1716	617068	Portal hypertension, noncirrhotic	617068	C4310735	OMIM	1	239	2858	601465
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	DHDDS CL E G H	79947	613861	Retinitis pigmentosa 59	613861	C3151227	OMIM	1	434	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	582	2861	126060
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	DIS3L2 CL E G H	129563	2849				ORPHA	1	2008	28648	614184
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	DLD CL E G H	1738	2394	Frontonasal dysplasia Klippel Feil syndrome			ORPHA	1	520	2898	238331
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	DNAJC21 CL E G H	134218	260400	Shwachman syndrome	260400	C0272170	OMIM	1	337	27030	617048
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	DOLK CL E G H	22845	91131				ORPHA	1	521	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	255	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	567	24595	617083
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	EIF2AK3 CL E G H	9451	1667	Dandy-Walker malformation with facial hemangioma			ORPHA	1	520	3255	604032
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	EIF2AK3 CL E G H	9451	226980	Wolcott-Rallison dysplasia	226980	C0432217	OMIM	1	520	3255	604032
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ERCC6 CL E G H	2074	133540	Cockayne syndrome B	133540	C0751038	OMIM	1	1645	3438	609413
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ERCC8 CL E G H	1161	216400	Cockayne syndrome type A	216400	C0751039	OMIM	1	484	3439	609412
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ETFA CL E G H	2108	231680	Glutaric aciduria, type 2	231680	C0268596	OMIM	1	430	3481	608053
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ETFB CL E G H	2109	231680	Glutaric aciduria, type 2	231680	C0268596	OMIM	1	265	3482	130410
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ETFDH CL E G H	2110	231680	Glutaric aciduria, type 2	231680	C0268596	OMIM	1	778	3483	231675
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	EWSR1 CL E G H	2130	83469				ORPHA	1	74	3508	133450
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	F5 CL E G H	2153	131	Myeloid sarcoma			ORPHA	1	601	3542	612309
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	FAH CL E G H	2184	276700	Tyrosinemia type I	276700	C0268490	OMIM	1	601	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	64	24200	615584
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	FAS CL E G H	355	601859	Autoimmune lymphoproliferative syndrome	601859	C1328840	OMIM	1	387	11920	134637
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	FASLG CL E G H	356	601859	Autoimmune lymphoproliferative syndrome	601859	C1328840	OMIM	1	195	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	401	29160	612322
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	FBN1 CL E G H	2200	614185	Geleophysic dysplasia 2	614185	C3280054	OMIM	1	6619	3603	134797
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	FBP1 CL E G H	2203	229700	Fructose-biphosphatase deficiency	229700	C0016756	OMIM	1	212	3606	611570
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	FDX2 CL E G H	112812	251900	Mitochondrial myopathy	251900	C0162670	OMIM	1	125	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	444	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	208	3661	134820
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	FOS CL E G H	2353	528	Acute myeloblastic leukemia type 3			ORPHA	1	40	3796	164810
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	FUCA1 CL E G H	2517	230000	Fucosidosis	230000	C0016788	OMIM	1	308	4006	612280
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	FUCA1 CL E G H	2517	349	Neuroaxonal dystrophy renal tubular acidosis			ORPHA	1	308	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	264	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	2442	4065	606800
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	GALE CL E G H	2582	230350	UDPglucose-4-epimerase deficiency	230350	C0751161	OMIM	1	191	4116	606953
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	GALNS CL E G H	2588	253000	Mucopolysaccharidosis, MPS-IV-A	253000	C0086651	OMIM	1	1032	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	719	4135	606999
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	GATA2 CL E G H	2624	3226	Lethal chondrodysplasia Seller type			ORPHA	1	1314	4171	137295
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	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	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	720	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	650	13780	606639
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	GLB1 CL E G H	2720	230500	Infantile GM1 gangliosidosis	230500	C0268271	OMIM	1	937	4298	611458
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	GLB1 CL E G H	2720	253010	Mucopolysaccharidosis, MPS-IV-B	253010	C0086652	OMIM	1	937	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	686	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	111	20134	609588
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	GNE CL E G H	10020	3166	Ladda Zonana Ramer syndrome			ORPHA	1	947	23657	603824
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	GNE CL E G H	10020	269921	Sialuria	269921	C0342853	OMIM	1	947	23657	603824
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	GNMT CL E G H	27232	606664	Glycine N-methyltransferase deficiency	606664	C1847720	OMIM	1	95	4415	606628
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	GNPTAB CL E G H	79158	576				ORPHA	1	1236	29670	607840
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	GNPTAB CL E G H	79158	252500	I cell disease	252500	C2673377	OMIM	1	1236	29670	607840
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	GNS CL E G H	2799	252940	Mucopolysaccharidosis, MPS-III-D	252940	C0086650	OMIM	1	616	4422	607664
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	GPC3 CL E G H	2719	373	Quinquaud's decalvans folliculitis			ORPHA	1	989	4451	300037
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	GPC3 CL E G H	2719	312870	Simpson-Golabi-Behmel syndrome	312870	C0796154	OMIM	1	989	4451	300037
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	GPC4 CL E G H	2239	373	Quinquaud's decalvans folliculitis			ORPHA	1	243	4452	300168
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	GPC4 CL E G H	2239	312870	Simpson-Golabi-Behmel syndrome	312870	C0796154	OMIM	1	243	4452	300168
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	GPD1 CL E G H	2819	614480	Hypertriglyceridemia, transient infantile	614480	C3280953	OMIM	1	96	4455	138420
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	GPIHBP1 CL E G H	338328	615947	Hyperlipoproteinemia, type ID	615947	C4014767	OMIM	1	187	24945	612757
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	GPR35 CL E G H	2859	171	Le Marec Bracq Picaud syndrome			ORPHA	1	139	4492	602646
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	GUCY2D CL E G H	3000	204000	Leber congenital amaurosis 1	204000	C2931258	OMIM	1	1048	4689	600179
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	GUSB CL E G H	2990	253220	Mucopolysaccharidosis type VII	253220	C0085132	OMIM	1	414	4696	611499
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	H19 CL E G H	283120	130650	Beckwith-Wiedemann syndrome	130650	C0004903	OMIM	1	61	4713	103280
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	HADHA CL E G H	3030	5				ORPHA	1	792	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	792	4801	600890
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	HAMP CL E G H	57817	613313	Hemochromatosis type 2B	613313	C1865616	OMIM	1	67	15598	606464
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	HBA1 CL E G H	3039	163596				ORPHA	1	394	4823	141800
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	HBA1 CL E G H	3039	613978	Hemoglobin H	613978	C3161174	OMIM	1	394	4823	141800
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	HBA2 CL E G H	3040	163596				ORPHA	1	350	4824	141850
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	HBA2 CL E G H	3040	613978	Hemoglobin H	613978	C3161174	OMIM	1	350	4824	141850
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	HBB CL E G H	3043	231214				ORPHA	1	1600	4827	141900
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	HBB CL E G H	3043	46532				ORPHA	1	1600	4827	141900
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	HBB CL E G H	3043	231222				ORPHA	1	1600	4827	141900
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	HBB CL E G H	3043	603903	Hb SS disease	603903	C0002895	OMIM	1	1600	4827	141900
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	HBG1 CL E G H	3047	46532				ORPHA	1	70	4831	142200
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	HBG2 CL E G H	3048	46532				ORPHA	1	83	4832	142250
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	HFE CL E G H	3077	465508				ORPHA	1	237	4886	613609
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	HFE CL E G H	3077	235200	Hemochromatosis type 1	235200	C3469186	OMIM	1	237	4886	613609
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	HGSNAT CL E G H	138050	252930	Mucopolysaccharidosis, MPS-III-C	252930	C0086649	OMIM	1	1049	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	420	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	272	5008	600234
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	HMOX1 CL E G H	3162	614034	Heme oxygenase 1 deficiency	614034	C1841651	OMIM	1	177	5013	141250
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	HNF1A CL E G H	6927	324575				ORPHA	1	821	11621	142410
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	HNF4A CL E G H	3172	263455	Hyperinsulinism due to HNF4A deficiency		CN202290	ORPHA	1	509	5024	600281
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	HSD17B4 CL E G H	3295	261515	Bifunctional peroxisomal enzyme deficiency	261515	C0342870	OMIM	1	983	5213	601860
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	HSD3B7 CL E G H	80270	79301				ORPHA	1	139	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	139	18324	607764
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	HYMAI CL E G H	57061	96191				ORPHA	1	18	5326	606546
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ICOS CL E G H	29851	607594	Common variable immunodeficiency 1	607594	C3149378	OMIM	1	191	5351	604558
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ICOS CL E G H	29851	240500	Common variable immunodeficiency 2	240500	C3150354	OMIM	1	191	5351	604558
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	IDS CL E G H	3423	309900	Mucopolysaccharidosis, MPS-II	309900	C0026705	OMIM	1	931	5389	300823
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	IDUA CL E G H	3425	93473				ORPHA	1	1788	5391	252800
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	IDUA CL E G H	3425	93476				ORPHA	1	1788	5391	252800
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	IDUA CL E G H	3425	93474				ORPHA	1	1788	5391	252800
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	IDUA CL E G H	3425	607014	Dysostosis multiplex	607014	C0086795	OMIM	1	1788	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	1788	5391	252800
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	IFT122 CL E G H	55764	218330	Cranioectodermal dysplasia 1	218330	C0432235	OMIM	1	648	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	1686	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	1356	30391	607386
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	IGF2 CL E G H	3481	130650	Beckwith-Wiedemann syndrome	130650	C0004903	OMIM	1	146	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	226	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	306	6008	147730
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	IL2RG CL E G H	3561	39041				ORPHA	1	509	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	509	6010	308380
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	IL7R CL E G H	3575	39041				ORPHA	1	428	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	428	6024	146661
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	INPP5E CL E G H	56623	1454	Common atrioventricular canal		C0221215	ORPHA	1	782	21474	613037
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ITCH CL E G H	83737	613385	Autoimmune disease, syndromic multisystem	613385	C3150649	OMIM	1	371	13890	606409
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ITK CL E G H	3702	613011	Lymphoproliferative syndrome 1	613011	C3552634	OMIM	1	461	6171	186973
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	JAK2 CL E G H	3717	729	Anti-factor 8 autoimmunization			ORPHA	1	412	6192	147796
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	JAK2 CL E G H	3717	131	Myeloid sarcoma			ORPHA	1	412	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	265	15532	606871
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	KAT6B CL E G H	23522	648				ORPHA	1	1003	17582	605880
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	KCNH1 CL E G H	3756	135500	Zimmermann-Laband syndrome 1	135500	CN032818	OMIM	1	566	6250	603305
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	KCNJ11 CL E G H	3767	276580				ORPHA	1	435	6257	600937
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	KCNN4 CL E G H	3783	616689	Dehydrated hereditary stomatocytosis 2	616689	C4225242	OMIM	1	78	6293	602754
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	KCNQ1 CL E G H	3784	130650	Beckwith-Wiedemann syndrome	130650	C0004903	OMIM	1	2200	6294	607542
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	KCNQ1OT1 CL E G H	10984	130650	Beckwith-Wiedemann syndrome	130650	C0004903	OMIM	1	493	6295	604115
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	KLF1 CL E G H	10661	46532				ORPHA	1	129	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	129	6345	600599
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	KRAS CL E G H	3845	648				ORPHA	1	480	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	480	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	357	6518	600024
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	LBR CL E G H	3930	215140	Greenberg dysplasia	215140	C2931048	OMIM	1	357	6518	600024
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	LBR CL E G H	3930	613471	Reynolds syndrome	613471	C0748397	OMIM	1	357	6518	600024
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	LIG4 CL E G H	3981	39041				ORPHA	1	626	6601	601837
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	LIPA CL E G H	3988	75233				ORPHA	1	561	6617	613497
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	LIPA CL E G H	3988	75234	Cholesteryl ester storage disease		C0008384	ORPHA	1	561	6617	613497
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	LIPA CL E G H	3988	278000	Lysosomal acid lipase deficiency	278000	C0043208	OMIM	1	561	6617	613497
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	LIPE CL E G H	3991	435660				ORPHA	1	144	6621	151750
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	LMNA CL E G H	4000	2348				ORPHA	1	1814	6636	150330
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	LMNA CL E G H	4000	280365				ORPHA	1	1814	6636	150330
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	LMNA CL E G H	4000	79084				ORPHA	1	1814	6636	150330
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	LMNA CL E G H	4000	151660	Familial partial lipodystrophy 2	151660	C1720860	OMIM	1	1814	6636	150330
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	LPIN2 CL E G H	9663	77297				ORPHA	1	931	14450	605519
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	LRP5 CL E G H	4041	2924	Hypoplastic thumbs hydranencephaly			ORPHA	1	1819	6697	603506
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	LYST CL E G H	1130	167				ORPHA	1	2575	1968	606897
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	LYST CL E G H	1130	214500	Chédiak-Higashi syndrome	214500	C0007965	OMIM	1	2575	1968	606897
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	LYZ CL E G H	4069	105200	Familial visceral amyloidosis, Ostertag type	105200	C0268389	OMIM	1	76	6740	153450
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	LZTR1 CL E G H	8216	648				ORPHA	1	2859	6742	600574
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	1351	6826	609458
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	MARS CL E G H	4141	615486	Interstitial lung and liver disease	615486	C4225400	OMIM	1		6898	156560
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	MCM4 CL E G H	4173	609981	Natural killer cell and glucocorticoid deficiency with DNA repair defect	609981	C1864947	OMIM	1	527	6947	602638
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	MEFV CL E G H	4210	249100	Familial Mediterranean fever	249100	C0031069	OMIM	1	1083	6998	608107
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	MET CL E G H	4233	33402				ORPHA	1	3184	7029	164860
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	MFN2 CL E G H	9927	2398	Froster Iskenius Waterson syndrome			ORPHA	1	1222	16877	608507
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	MMAA CL E G H	166785	251100	Methylmalonic aciduria cblA type	251100	C1855109	OMIM	1	483	18871	607481
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	MMAB CL E G H	326625	251110	Methylmalonic aciduria cblB type	251110	C1855102	OMIM	1	461	19331	607568
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	MMUT CL E G H	4594	289916				ORPHA	1	896	7526	609058
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	MMUT CL E G H	4594	251000	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	251000	C1855114	OMIM	1	896	7526	609058
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	MOGS CL E G H	7841	606056	Congenital disorder of glycosylation type 2B	606056	C1853736	OMIM	1	473	24862	601336
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	MPC1 CL E G H	51660	614741	Mitochondrial pyruvate carrier deficiency	614741	C3553607	OMIM	1	98	21606	614738
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	MPI CL E G H	4351	602579	Congenital disorder of glycosylation type 1B	602579	C1865145	OMIM	1	398	7216	154550
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	MPL CL E G H	4352	729	Anti-factor 8 autoimmunization			ORPHA	1	562	7217	159530
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	MPV17 CL E G H	4358	256810	Navajo neurohepatopathy	256810	C1850406	OMIM	1	264	7224	137960
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	MRPL3 CL E G H	11222	614582	Combined oxidative phosphorylation deficiency 9	614582	C3281234	OMIM	1	109	10379	607118
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	MRPS7 CL E G H	51081	617872	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34	617872	CN807947	OMIM	1	93	14499	611974
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	MST1 CL E G H	4485	171	Le Marec Bracq Picaud syndrome			ORPHA	1	57	7380	142408
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	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:0006564	Fluctuating hepatomegaly	1	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:0006564	Fluctuating hepatomegaly	1	MT-TW CL E G H	4578	251900	Mitochondrial myopathy	251900	C0162670	OMIM	1		7501	590095
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	MVK CL E G H	4598	343				ORPHA	1	570	7530	251170
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	NAGA CL E G H	4668	79281				ORPHA	1	230	7631	104170
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	NAGLU CL E G H	4669	252920	Mucopolysaccharidosis, MPS-III-B	252920	C0086648	OMIM	1	1088	7632	609701
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	NCF1 CL E G H	653361	379				ORPHA	1	106	7660	608512
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	NCF1 CL E G H	653361	233700	Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1	233700	C1856251	OMIM	1	106	7660	608512
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	NCF2 CL E G H	4688	379				ORPHA	1	448	7661	608515
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	NCF2 CL E G H	4688	233710	Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2	233710	C1856245	OMIM	1	448	7661	608515
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	NCF4 CL E G H	4689	379				ORPHA	1	356	7662	601488
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	NDUFAF1 CL E G H	51103	618234	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11	618234		OMIM	1	154	18828	606934
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	NEK8 CL E G H	284086	615415	Renal-hepatic-pancreatic dysplasia 2	615415	C3809434	OMIM	1	279	13387	609799
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	NEU1 CL E G H	4758	256550	Sialidosis, type II	256550	C0268226	OMIM	1	185	7758	608272
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	NHLRC2 CL E G H	374354	618278	618278	618278		OMIM	1	67	24731	0
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	NLRC4 CL E G H	58484	1451				ORPHA	1	643	16412	606831
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	NLRP3 CL E G H	114548	1451				ORPHA	1	917	16400	606416
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	NLRP3 CL E G H	114548	575	Aicardi Goutieres syndrome		C0393591	ORPHA	1	917	16400	606416
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	NPC2 CL E G H	10577	607625	Niemann-Pick disease type C2	607625	C1843366	OMIM	1	232	14537	601015
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	NPHP3 CL E G H	27031	208540	Renal-hepatic-pancreatic dysplasia	208540	C2673883	OMIM	1	1106	7907	608002
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	NRAS CL E G H	4893	648				ORPHA	1	281	7989	164790
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	NRAS CL E G H	4893	614470	RAS-associated autoimmune leukoproliferative disorder	614470	C2674723	OMIM	1	281	7989	164790
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	OCLN CL E G H	100506658	251290	Band-like calcification with simplified gyration and polymicrogyria	251290	C3489725	OMIM	1	138	8104	602876
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	OSTM1 CL E G H	28962	259720	Osteopetrosis, autosomal recessive 5	259720	C1968603	OMIM	1	271	21652	607649
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PC CL E G H	5091	266150	Pyruvate carboxylase deficiency	266150	C0034341	OMIM	1	1101	8636	608786
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PCCA CL E G H	5095	35				ORPHA	1	1189	8653	232000
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PCCA CL E G H	5095	606054	Propionyl-CoA carboxylase deficiency	606054	C0268579	OMIM	1	1189	8653	232000
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PCCB CL E G H	5096	35				ORPHA	1	971	8654	232050
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PCCB CL E G H	5096	606054	Propionyl-CoA carboxylase deficiency	606054	C0268579	OMIM	1	971	8654	232050
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PCK1 CL E G H	5105	261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	261680	C1849814	OMIM	1	235	8724	614168
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PDGFB CL E G H	5155	1980				ORPHA	1	151	8800	190040
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PDGFRA CL E G H	5156	607685	Idiopathic hypereosinophilic syndrome	607685	C0206141	OMIM	1	2832	8803	173490
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PDGFRB CL E G H	5159	1980				ORPHA	1	531	8804	173410
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PEPD CL E G H	5184	170100	Prolidase deficiency	170100	C0268532	OMIM	1	496	8840	613230
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PET100 CL E G H	100131801	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	76	40038	614770
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PEX1 CL E G H	5189	912				ORPHA	1	1537	8850	602136
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PEX1 CL E G H	5189	772				ORPHA	1	1537	8850	602136
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PEX1 CL E G H	5189	601539	Peroxisome biogenesis disorder 1B	601539	CN168921	OMIM	1	1537	8850	602136
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PEX1 CL E G H	5189	214100	Zellweger syndrome	214100	C0043459	OMIM	1	1537	8850	602136
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PEX10 CL E G H	5192	772				ORPHA	1	803	8851	602859
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PEX10 CL E G H	5192	912				ORPHA	1	803	8851	602859
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PEX10 CL E G H	5192	614870	Peroxisome biogenesis disorder 6A	614870	C3553947	OMIM	1	803	8851	602859
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PEX11B CL E G H	8799	912				ORPHA	1	415	8853	603867
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PEX11B CL E G H	8799	772				ORPHA	1	415	8853	603867
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PEX12 CL E G H	5193	772				ORPHA	1	459	8854	601758
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PEX12 CL E G H	5193	912				ORPHA	1	459	8854	601758
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PEX12 CL E G H	5193	266510	Infantile Refsum's disease	266510	C0282527	OMIM	1	459	8854	601758
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PEX12 CL E G H	5193	614859	Peroxisome biogenesis disorder 3A	614859	C3553929	OMIM	1	459	8854	601758
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PEX13 CL E G H	5194	912				ORPHA	1	497	8855	601789
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PEX13 CL E G H	5194	772				ORPHA	1	497	8855	601789
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PEX14 CL E G H	5195	772				ORPHA	1	474	8856	601791
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PEX14 CL E G H	5195	912				ORPHA	1	474	8856	601791
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PEX14 CL E G H	5195	614887	Peroxisome biogenesis disorder 13A	614887	C3554004	OMIM	1	474	8856	601791
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PEX16 CL E G H	9409	912				ORPHA	1	470	8857	603360
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PEX16 CL E G H	9409	772				ORPHA	1	470	8857	603360
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PEX16 CL E G H	9409	614876	Peroxisome biogenesis disorder 8A	614876	C3553959	OMIM	1	470	8857	603360
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PEX19 CL E G H	5824	772				ORPHA	1	379	9713	600279
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PEX19 CL E G H	5824	912				ORPHA	1	379	9713	600279
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PEX2 CL E G H	5828	912				ORPHA	1	463	9717	170993
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PEX2 CL E G H	5828	772				ORPHA	1	463	9717	170993
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PEX2 CL E G H	5828	614866	Peroxisome biogenesis disorder 5a (zellweger)	614866	C3553940	OMIM	1	463	9717	170993
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PEX26 CL E G H	55670	772				ORPHA	1	522	22965	608666
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PEX26 CL E G H	55670	912				ORPHA	1	522	22965	608666
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PEX26 CL E G H	55670	614872	Peroxisome biogenesis disorder 7A	614872	C3539168	OMIM	1	522	22965	608666
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PEX3 CL E G H	8504	912				ORPHA	1	358	8858	603164
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PEX3 CL E G H	8504	772				ORPHA	1	358	8858	603164
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PEX3 CL E G H	8504	614882	Peroxisome biogenesis disorder 10A	614882	C3553999	OMIM	1	358	8858	603164
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PEX5 CL E G H	5830	772				ORPHA	1	858	9719	600414
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PEX5 CL E G H	5830	912				ORPHA	1	858	9719	600414
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PEX5 CL E G H	5830	214110	Peroxisome biogenesis disorder 2a (zellweger)	214110	C1859228	OMIM	1	858	9719	600414
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PEX6 CL E G H	5190	912				ORPHA	1	1458	8859	601498
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PEX6 CL E G H	5190	772				ORPHA	1	1458	8859	601498
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PEX6 CL E G H	5190	614862	Peroxisome biogenesis disorder 4a (zellweger)	614862	C3553936	OMIM	1	1458	8859	601498
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PEX6 CL E G H	5190	614863	Peroxisome biogenesis disorder 4B	614863	C3553937	OMIM	1	1458	8859	601498
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PHKA2 CL E G H	5256	306000	Glycogen storage disease type IXa1	306000	C0017927	OMIM	1	596	8926	300798
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PHKB CL E G H	5257	261750	Glycogen storage disease IXb	261750	C0543514	OMIM	1	604	8927	172490
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	216	8931	172471
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PIGM CL E G H	93183	610293	Glycosylphosphatidylinositol deficiency	610293	C1853205	OMIM	1	89	18858	610273
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PKHD1 CL E G H	5314	263200	Autosomal recessive polycystic kidney disease	263200	C0085548	OMIM	1	4066	9016	606702
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PLAGL1 CL E G H	5325	96191				ORPHA	1	48	9046	603044
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PMM2 CL E G H	5373	212065	Carbohydrate-deficient glycoprotein syndrome type I	212065	C0349653	OMIM	1	745	9115	601785
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PNPLA2 CL E G H	57104	610717	Neutral lipid storage disease with myopathy	610717	C1853136	OMIM	1	566	30802	609059
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	POLD1 CL E G H	5424	615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	615381	C3715192	OMIM	1	4378	9175	174761
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	POLG CL E G H	5428	203700	Progressive sclerosing poliodystrophy	203700	C0205710	OMIM	1	2324	9179	174763
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PPARG CL E G H	5468	79083				ORPHA	1	166	9236	601487
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PPARG CL E G H	5468	528	Acute myeloblastic leukemia type 3			ORPHA	1	166	9236	601487
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PRF1 CL E G H	5551	603553	Hemophagocytic lymphohistiocytosis, familial, 2	603553	C1863727	OMIM	1	505	9360	170280
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PRKCD CL E G H	5580	615559	Autoimmune lymphoproliferative syndrome, type III	615559	C3809928	OMIM	1	458	9399	176977
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PRKCSH CL E G H	5589	2924	Hypoplastic thumbs hydranencephaly			ORPHA	1	302	9411	177060
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PSAP CL E G H	5660	139406				ORPHA	1	772	9498	176801
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PSAP CL E G H	5660	611721	Combined saposin deficiency	611721	C2673635	OMIM	1	772	9498	176801
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PSMB8 CL E G H	5696	2615				ORPHA	1	199	9545	177046
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PSMB8 CL E G H	5696	256040	Nakajo syndrome	256040	C1850568	OMIM	1	199	9545	177046
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PTPN11 CL E G H	5781	648				ORPHA	1	854	9644	176876
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	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	690	9666	151460
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PTRH2 CL E G H	51651	616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	616263	C4015728	OMIM	1	49	24265	608625
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	RAB27A CL E G H	5873	79477				ORPHA	1	298	9766	603868
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	RAF1 CL E G H	5894	648				ORPHA	1	990	9829	164760
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	RAG1 CL E G H	5896	39041				ORPHA	1	635	9831	179615
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	RAG1 CL E G H	5896	603554	Histiocytic medullary reticulosis	603554	C1801959	OMIM	1	635	9831	179615
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	RAG2 CL E G H	5897	39041				ORPHA	1	451	9832	179616
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	RAG2 CL E G H	5897	603554	Histiocytic medullary reticulosis	603554	C1801959	OMIM	1	451	9832	179616
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	RASA2 CL E G H	5922	648				ORPHA	1	533	9872	601589
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	RFT1 CL E G H	91869	244310				ORPHA	1	505	30220	611908
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	RFT1 CL E G H	91869	612015	Congenital disorder of glycosylation type 1N	612015	C2677590	OMIM	1	505	30220	611908
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	RHAG CL E G H	6005	185000	Stomatocytosis I	185000	C1861455	OMIM	1	95	10006	180297
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	RHBDF2 CL E G H	79651	2198				ORPHA	1	209	20788	614404
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	RIT1 CL E G H	6016	648				ORPHA	1	269	10023	609591
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	RMRP CL E G H	6023	39041				ORPHA	1	802	10031	157660
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	RNASEH2A CL E G H	10535	610333	Aicardi Goutieres syndrome 4	610333	C1835912	OMIM	1	404	18518	606034
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	RNU4ATAC CL E G H	100151683	616651	Roifman syndrome	616651	C1846059	OMIM	1	261	34016	601428
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	RPGRIP1L CL E G H	23322	1454	Common atrioventricular canal		C0221215	ORPHA	1	1494	29168	610937
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	RRAS CL E G H	6237	648				ORPHA	1	260	10447	165090
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	SAA1 CL E G H	6288	85445				ORPHA	1	35	10513	104750
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	SBDS CL E G H	51119	260400	Shwachman syndrome	260400	C0272170	OMIM	1	119	19440	607444
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	SC5D CL E G H	6309	46059				ORPHA	1	242	10547	602286
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	SCARB2 CL E G H	950	77259				ORPHA	1	474	1665	602257
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	SCO1 CL E G H	6341	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	212	10603	603644
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	SCYL1 CL E G H	57410	616719	Spinocerebellar ataxia, autosomal recessive 21	616719	C4225236	OMIM	1	128	14372	607982
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	SEC63 CL E G H	11231	2924	Hypoplastic thumbs hydranencephaly			ORPHA	1	408	21082	608648
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	SEC63 CL E G H	11231	617004	Polycystic liver disease 2	617004	C4310769	OMIM	1	408	21082	608648
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	SERPINA1 CL E G H	5265	60				ORPHA	1	423	8941	107400
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	SGSH CL E G H	6448	252900	Mucopolysaccharidosis, MPS-III-A	252900	C0086647	OMIM	1	1230	10818	605270
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	SH2D1A CL E G H	4068	2442				ORPHA	1	299	10820	300490
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	SH2D1A CL E G H	4068	308240	Lymphoproliferative syndrome 1, X-linked	308240	C1868674	OMIM	1	299	10820	300490
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	SKIV2L CL E G H	6499	614602	Trichohepatoenteric syndrome 2	614602	C3281289	OMIM	1		10898	600478
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	SLC17A5 CL E G H	26503	269920	Sialic acid storage disease, severe infantile type	269920	C1096902	OMIM	1	520	10933	604322
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	SLC20A2 CL E G H	6575	1980				ORPHA	1	337	10947	158378
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	SLC22A5 CL E G H	6584	158				ORPHA	1	1027	10969	603377
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	SLC22A5 CL E G H	6584	212140	Renal carnitine transport defect	212140	C0342788	OMIM	1	1027	10969	603377
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	SLC25A15 CL E G H	10166	238970	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	238970	C0268540	OMIM	1	405	10985	603861
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	SLC25A19 CL E G H	60386	607196	Amish lethal microcephaly	607196	C1846648	OMIM	1	182	14409	606521
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	SLC25A20 CL E G H	788	159				ORPHA	1	197	1421	613698
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	SLC25A20 CL E G H	788	212138	Carnitine acylcarnitine translocase deficiency	212138	C0342791	OMIM	1	197	1421	613698
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	SLC29A3 CL E G H	55315	602782	Histiocytosis-lymphadenopathy plus syndrome	602782	C1864445	OMIM	1	447	23096	612373
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	SLC2A1 CL E G H	6513	608885	Stomatin-deficient cryohydrocytosis with neurologic defects	608885	C1837206	OMIM	1	965	11005	138140
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	SLC30A10 CL E G H	55532	309854				ORPHA	1	275	25355	611146
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	SLC30A10 CL E G H	55532	613280	Hypermanganesemia with dystonia 1	613280		OMIM	1	275	25355	611146
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	SLC37A4 CL E G H	2542	232220	Glucose-6-phosphate transport defect	232220	C0268146	OMIM	1	903	4061	602671
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	SLC37A4 CL E G H	2542	232240	Phosphate transport defect	232240	C0342749	OMIM	1	903	4061	602671
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	SLC39A4 CL E G H	55630	201100	Hereditary acrodermatitis enteropathica	201100	C0221036	OMIM	1	736	17129	607059
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	SLC7A7 CL E G H	9056	222700	Lysinuric protein intolerance	222700	C0268647	OMIM	1	671	11065	603593
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	SMPD1 CL E G H	6609	257200	Niemann-Pick disease, type A	257200	C0268242	OMIM	1	864	11120	607608
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	SMPD1 CL E G H	6609	607616	Niemann-Pick disease, type B	607616	C0268243	OMIM	1	864	11120	607608
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	SNX10 CL E G H	29887	667				ORPHA	1	147	14974	614780
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	SNX10 CL E G H	29887	615085	Osteopetrosis, autosomal recessive 8	615085	C3554478	OMIM	1	147	14974	614780
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	SOS1 CL E G H	6654	648				ORPHA	1	1503	11187	182530
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	SOS2 CL E G H	6655	648				ORPHA	1	1250	11188	601247
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	SP110 CL E G H	3431	79124				ORPHA	1	437	5401	604457
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	SRP54 CL E G H	6729	260400	Shwachman syndrome	260400	C0272170	OMIM	1	204	11301	604857
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	STEAP3 CL E G H	55240	615234	Hypochromic microcytic anemia with iron overload 2	615234	C3808920	OMIM	1	94	24592	609671
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	SUMF1 CL E G H	285362	585				ORPHA	1	746	20376	607939
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	SUMF1 CL E G H	285362	272200	Multiple sulfatase deficiency	272200	C0268263	OMIM	1	746	20376	607939
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	TACO1 CL E G H	51204	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	117	24316	612958
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	TALDO1 CL E G H	6888	606003	Deficiency of transaldolase	606003	C1291329	OMIM	1	210	11559	602063
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	TCF4 CL E G H	6925	171	Le Marec Bracq Picaud syndrome			ORPHA	1	1069	11634	602272
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	TCIRG1 CL E G H	10312	667				ORPHA	1	1157	11647	604592
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	TCIRG1 CL E G H	10312	259700	Osteopetrosis autosomal recessive 1	259700	C1850127	OMIM	1	1157	11647	604592
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	TET2 CL E G H	54790	729	Anti-factor 8 autoimmunization			ORPHA	1	326	25941	612839
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	TMEM165 CL E G H	55858	614727	Congenital disorder of glycosylation type 2k	614727	C3553571	OMIM	1	175	30760	614726
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	TMEM67 CL E G H	91147	1454	Common atrioventricular canal		C0221215	ORPHA	1	928	28396	609884
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	TMEM70 CL E G H	54968	1194				ORPHA	1	325	26050	612418
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	TNFRSF13B CL E G H	23495	240500	Common variable immunodeficiency 2	240500	C3150354	OMIM	1	404	18153	604907
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	TNFRSF13C CL E G H	115650	240500	Common variable immunodeficiency 2	240500	C3150354	OMIM	1	158	17755	606269
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	TNFRSF1B CL E G H	7133	3162	Lactate dehydrogenase deficiency type C			ORPHA	1	66	11917	191191
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	TNFSF11 CL E G H	8600	667				ORPHA	1	246	11926	602642
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	TRAPPC11 CL E G H	60684	369840				ORPHA	1	983	25751	614138
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	TRIM37 CL E G H	4591	2576	Grubben de Cock Borghgraef syndrome			ORPHA	1	374	7523	605073
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	TRIM37 CL E G H	4591	253250	Mulibrey nanism syndrome	253250	C0524582	OMIM	1	374	7523	605073
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	TRMU CL E G H	55687	613070	Liver failure acute infantile	613070	C3278664	OMIM	1	623	25481	610230
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	TSFM CL E G H	10102	610505	Combined oxidative phosphorylation deficiency 3	610505	C1864840	OMIM	1	434	12367	604723
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	TTC37 CL E G H	9652	222470	Trichohepatoenteric syndrome 1	222470	CN034858	OMIM	1		23639	614589
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	TUFM CL E G H	7284	610678	Combined oxidative phosphorylation deficiency 4	610678	C1857682	OMIM	1	323	12420	602389
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	UCP2 CL E G H	7351	276556				ORPHA	1	74	12518	601693
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	USP18 CL E G H	11274	617397	Pseudo-torch syndrome 2	617397	C4479376	OMIM	1	165	12616	607057
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	VPS33A CL E G H	65082	617303	Mucopolysaccharidosis-plus syndrome	617303	C4310627	OMIM	1	274	18179	610034
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	VPS45 CL E G H	11311	615285	Severe congenital neutropenia 5, autosomal recessive	615285	C3809031	OMIM	1	452	14579	610035
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	WDR35 CL E G H	57539	613610	Cranioectodermal dysplasia 2	613610	C3150874	OMIM	1	615	29250	613602
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	WT1 CL E G H	7490	83469				ORPHA	1	1371	12796	607102
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	XIAP CL E G H	331	2442				ORPHA	1	502	592	300079
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	XIAP CL E G H	331	308240	Lymphoproliferative syndrome 1, X-linked	308240	C1868674	OMIM	1	502	592	300079
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	XPR1 CL E G H	9213	1980				ORPHA	1	234	12827	605237
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ZAP70 CL E G H	7535	269840	Severe combined immunodeficiency, atypical	269840	C1849236	OMIM	1	419	12858	176947
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002240	HP:0002240	Hepatomegaly	0	ABCC2 CL E G H	1244	234				ORPHA	0	509	53	601107
HP:0002240	HP:0002240	Hepatomegaly	0	ADA2 CL E G H	51816	615688	Polyarteritis nodosa, childhoood-onset	615688	C3887654	OMIM	0	533	1839	607575
HP:0002240	HP:0002240	Hepatomegaly	0	AGA CL E G H	175	93				ORPHA	0	509	318	613228
HP:0002240	HP:0002240	Hepatomegaly	0	AGGF1 CL E G H	55109	90308				ORPHA	0	48	24684	608464
HP:0002240	HP:0002240	Hepatomegaly	0	ALDH7A1 CL E G H	501	3006				ORPHA	0	884	877	107323
HP:0002240	HP:0002240	Hepatomegaly	0	ALMS1 CL E G H	7840	64				ORPHA	0	5525	428	606844
HP:0002240	HP:0002240	Hepatomegaly	0	AMACR CL E G H	23600	79095				ORPHA	0	392	451	604489
HP:0002240	HP:0002240	Hepatomegaly	0	ATP6V1B2 CL E G H	526	3473	Meningoencephalocele			ORPHA	0	167	854	606939
HP:0002240	HP:0002240	Hepatomegaly	0	ATRX CL E G H	546	100075				ORPHA	0	1925	886	300032
HP:0002240	HP:0002240	Hepatomegaly	0	AUH CL E G H	549	67046				ORPHA	0	249	890	600529
HP:0002240	HP:0002240	Hepatomegaly	0	BSCL2 CL E G H	26580	363400				ORPHA	0	510	15832	606158
HP:0002240	HP:0002240	Hepatomegaly	0	BSCL2 CL E G H	26580	615924	Encephalopathy, progressive, with or without lipodystrophy	615924	C4014700	OMIM	0	510	15832	606158
HP:0002240	HP:0002240	Hepatomegaly	0	BTNL2 CL E G H	56244	797				ORPHA	0	30	1142	606000
HP:0002240	HP:0002240	Hepatomegaly	0	CBS CL E G H	875	394				ORPHA	0	1120	1550	613381
HP:0002240	HP:0002240	Hepatomegaly	0	CCDC47 CL E G H	57003	618268	618268	618268		OMIM	0	45	24856	0
HP:0002240	HP:0002240	Hepatomegaly	0	CD28 CL E G H	940	2584				ORPHA	0	40	1653	186760
HP:0002240	HP:0002240	Hepatomegaly	0	CFTR CL E G H	1080	586	Al Gazali Khidr Prem Chandran syndrome			ORPHA	0	4433	1884	602421
HP:0002240	HP:0002240	Hepatomegaly	0	CLCA4 CL E G H	22802	586	Al Gazali Khidr Prem Chandran syndrome			ORPHA	0	58	2018	616857
HP:0002240	HP:0002240	Hepatomegaly	0	COG4 CL E G H	25839	613489	Congenital disorder of glycosylation type 2J	613489	C3150736	OMIM	0	339	18620	606976
HP:0002240	HP:0002240	Hepatomegaly	0	COG6 CL E G H	57511	614576	Congenital disorder of glycosylation type 2L	614576	C3553230	OMIM	0	366	18621	606977
HP:0002240	HP:0002240	Hepatomegaly	0	CTC1 CL E G H	80169	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	1292	26169	613129
HP:0002240	HP:0002240	Hepatomegaly	0	CTLA4 CL E G H	1493	2584				ORPHA	0	232	2505	123890
HP:0002240	HP:0002240	Hepatomegaly	0	CTSK CL E G H	1513	763				ORPHA	0	302	2536	601105
HP:0002240	HP:0002240	Hepatomegaly	0	DAXX CL E G H	1616	100075				ORPHA	0	41	2681	603186
HP:0002240	HP:0002240	Hepatomegaly	0	DCTN4 CL E G H	51164	586	Al Gazali Khidr Prem Chandran syndrome			ORPHA	0	33	15518	614758
HP:0002240	HP:0002240	Hepatomegaly	0	DKC1 CL E G H	1736	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	534	2890	300126
HP:0002240	HP:0002240	Hepatomegaly	0	DLD CL E G H	1738	246900	Maple syrup urine disease, type 3	246900	CN043137	OMIM	0	520	2898	238331
HP:0002240	HP:0002240	Hepatomegaly	0	DNAJC21 CL E G H	134218	811	Balo disease			ORPHA	0	337	27030	617048
HP:0002240	HP:0002240	Hepatomegaly	0	DNASE1L3 CL E G H	1776	36412				ORPHA	0	200	2959	602244
HP:0002240	HP:0002240	Hepatomegaly	0	EARS2 CL E G H	124454	614924	Combined oxidative phosphorylation deficiency 12	614924	C3554079	OMIM	0	336	29419	612799
HP:0002240	HP:0002240	Hepatomegaly	0	EFL1 CL E G H	79631	811	Balo disease			ORPHA	0	394	25789	617538
HP:0002240	HP:0002240	Hepatomegaly	0	FAH CL E G H	2184	882	Biemond syndrome 2			ORPHA	0	601	3579	613871
HP:0002240	HP:0002240	Hepatomegaly	0	HBG2 CL E G H	3048	613977	Cyanosis, transient neonatal	613977	C3151421	OMIM	0	83	4832	142250
HP:0002240	HP:0002240	Hepatomegaly	0	HJV CL E G H	148738	602390	Hemochromatosis type 2A	602390	C1865614	OMIM	0	470	4887	608374
HP:0002240	HP:0002240	Hepatomegaly	0	HLA-DRB1 CL E G H	3123	85414				ORPHA	0	41	4948	142857
HP:0002240	HP:0002240	Hepatomegaly	0	HLA-DRB1 CL E G H	3123	797				ORPHA	0	41	4948	142857
HP:0002240	HP:0002240	Hepatomegaly	0	HNF4A CL E G H	3172	616026	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young	616026	C4014962	OMIM	0	509	5024	600281
HP:0002240	HP:0002240	Hepatomegaly	0	HPGD CL E G H	3248	2796	Familial hypocalciuric hypercalcemia		C1809471	ORPHA	0	227	5154	601688
HP:0002240	HP:0002240	Hepatomegaly	0	IFIH1 CL E G H	64135	615846	Aicardi-Goutieres syndrome 7	615846	C3888244	OMIM	0	1170	18873	606951
HP:0002240	HP:0002240	Hepatomegaly	0	IL6 CL E G H	3569	85414				ORPHA	0	46	6018	147620
HP:0002240	HP:0002240	Hepatomegaly	0	INPPL1 CL E G H	3636	2746	Hoyeraal syndrome			ORPHA	0	467	6080	600829
HP:0002240	HP:0002240	Hepatomegaly	0	KCNH1 CL E G H	3756	3473	Meningoencephalocele			ORPHA	0	566	6250	603305
HP:0002240	HP:0002240	Hepatomegaly	0	KRT16 CL E G H	3868	2309	Fetal parainfluenza virus type 3 syndrome			ORPHA	0	109	6423	148067
HP:0002240	HP:0002240	Hepatomegaly	0	KRT17 CL E G H	3872	2309	Fetal parainfluenza virus type 3 syndrome			ORPHA	0	101	6427	148069
HP:0002240	HP:0002240	Hepatomegaly	0	KRT6A CL E G H	3853	2309	Fetal parainfluenza virus type 3 syndrome			ORPHA	0	147	6443	148041
HP:0002240	HP:0002240	Hepatomegaly	0	KRT6B CL E G H	3854	2309	Fetal parainfluenza virus type 3 syndrome			ORPHA	0	116	6444	148042
HP:0002240	HP:0002240	Hepatomegaly	0	LACC1 CL E G H	144811	85414				ORPHA	0	79	26789	613409
HP:0002240	HP:0002240	Hepatomegaly	0	LCAT CL E G H	3931	79292				ORPHA	0	216	6522	606967
HP:0002240	HP:0002240	Hepatomegaly	0	LIG4 CL E G H	3981	99812				ORPHA	0	626	6601	601837
HP:0002240	HP:0002240	Hepatomegaly	0	MECP2 CL E G H	4204	778				ORPHA	0	1925	6990	300005
HP:0002240	HP:0002240	Hepatomegaly	0	MIF CL E G H	4282	85414				ORPHA	0	130	7097	153620
HP:0002240	HP:0002240	Hepatomegaly	0	MMUT CL E G H	4594	79312				ORPHA	0	896	7526	609058
HP:0002240	HP:0002240	Hepatomegaly	0	MT-TE CL E G H	4556	254864				ORPHA	0		7479	590025
HP:0002240	HP:0002240	Hepatomegaly	0	MYD88 CL E G H	4615	33226				ORPHA	0	141	7562	602170
HP:0002240	HP:0002240	Hepatomegaly	0	NAGA CL E G H	4668	79279				ORPHA	0	230	7631	104170
HP:0002240	HP:0002240	Hepatomegaly	0	NGLY1 CL E G H	55768	615273	Congenital disorder of deglycosylation	615273	C3808991	OMIM	0	656	17646	610661
HP:0002240	HP:0002240	Hepatomegaly	0	NHP2 CL E G H	55651	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	196	14377	606470
HP:0002240	HP:0002240	Hepatomegaly	0	NOP10 CL E G H	55505	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	102	14378	606471
HP:0002240	HP:0002240	Hepatomegaly	0	NOTCH2 CL E G H	4853	955				ORPHA	0	1122	7882	600275
HP:0002240	HP:0002240	Hepatomegaly	0	NPC1 CL E G H	4864	257220	Niemann-Pick disease type C1	257220	C3179455	OMIM	0	2109	7897	607623
HP:0002240	HP:0002240	Hepatomegaly	0	PARN CL E G H	5073	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	627	8609	604212
HP:0002240	HP:0002240	Hepatomegaly	0	PEPD CL E G H	5184	742	Aortic dissection lentiginosis			ORPHA	0	496	8840	613230
HP:0002240	HP:0002240	Hepatomegaly	0	PIEZO1 CL E G H	9780	194380	Xerocytosis	194380	C0272051	OMIM	0	1433	28993	611184
HP:0002240	HP:0002240	Hepatomegaly	0	PIGA CL E G H	5277	300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	300868	C3275508	OMIM	0	483	8957	311770
HP:0002240	HP:0002240	Hepatomegaly	0	PIGS CL E G H	94005	618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18	618143		OMIM	0	69	14937	610271
HP:0002240	HP:0002240	Hepatomegaly	0	PLPBP CL E G H	11212	3006				ORPHA	0	242	9457	604436
HP:0002240	HP:0002240	Hepatomegaly	0	PNPLA2 CL E G H	57104	98908				ORPHA	0	566	30802	609059
HP:0002240	HP:0002240	Hepatomegaly	0	PYGL CL E G H	5836	232700	Glycogen storage disease, type VI	232700	C0017925	OMIM	0	324	9725	613741
HP:0002240	HP:0002240	Hepatomegaly	0	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	0	482	15864	610924
HP:0002240	HP:0002240	Hepatomegaly	0	RMND1 CL E G H	55005	614922	Combined oxidative phosphorylation deficiency 11	614922	C3554067	OMIM	0	262	21176	614917
HP:0002240	HP:0002240	Hepatomegaly	0	RMRP CL E G H	6023	175				ORPHA	0	802	10031	157660
HP:0002240	HP:0002240	Hepatomegaly	0	RTEL1 CL E G H	51750	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	2597	15888	608833
HP:0002240	HP:0002240	Hepatomegaly	0	SBDS CL E G H	51119	811	Balo disease			ORPHA	0	119	19440	607444
HP:0002240	HP:0002240	Hepatomegaly	0	SLC13A5 CL E G H	284111	3006				ORPHA	0	685	23089	608305
HP:0002240	HP:0002240	Hepatomegaly	0	SLC25A1 CL E G H	6576	615182	Combined d-2- and l-2-hydroxyglutaric aciduria	615182	C2746066	OMIM	0	568	10979	190315
HP:0002240	HP:0002240	Hepatomegaly	0	SLC25A19 CL E G H	60386	99742				ORPHA	0	182	14409	606521
HP:0002240	HP:0002240	Hepatomegaly	0	SLCO2A1 CL E G H	6578	2796	Familial hypocalciuric hypercalcemia		C1809471	ORPHA	0	247	10955	601460
HP:0002240	HP:0002240	Hepatomegaly	0	SOX10 CL E G H	6663	163746				ORPHA	0	378	11190	602229
HP:0002240	HP:0002240	Hepatomegaly	0	SRP54 CL E G H	6729	811	Balo disease			ORPHA	0	204	11301	604857
HP:0002240	HP:0002240	Hepatomegaly	0	STX11 CL E G H	8676	603552	Hemophagocytic lymphohistiocytosis, familial, 4	603552	C1863728	OMIM	0	337	11429	605014
HP:0002240	HP:0002240	Hepatomegaly	0	STX1A CL E G H	6804	586	Al Gazali Khidr Prem Chandran syndrome			ORPHA	0	178	11433	186590
HP:0002240	HP:0002240	Hepatomegaly	0	TERC CL E G H	7012	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	358	11727	602322
HP:0002240	HP:0002240	Hepatomegaly	0	TERT CL E G H	7015	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	2810	11730	187270
HP:0002240	HP:0002240	Hepatomegaly	0	TGFB1 CL E G H	7040	586	Al Gazali Khidr Prem Chandran syndrome			ORPHA	0	286	11766	190180
HP:0002240	HP:0002240	Hepatomegaly	0	TGFB1 CL E G H	7040	1328	Chromosome 15 ring		CN035931	ORPHA	0	286	11766	190180
HP:0002240	HP:0002240	Hepatomegaly	0	TINF2 CL E G H	26277	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	411	11824	604319
HP:0002240	HP:0002240	Hepatomegaly	0	TNFRSF1B CL E G H	7133	2584				ORPHA	0	66	11917	191191
HP:0002240	HP:0002240	Hepatomegaly	0	TRAPPC11 CL E G H	60684	615356	Limb-girdle muscular dystrophy, type 2S	615356	C3809236	OMIM	0	983	25751	614138
HP:0002240	HP:0002240	Hepatomegaly	0	TREX1 CL E G H	11277	225750	Aicardi Goutieres syndrome 1	225750	C0796126	OMIM	0	418	12269	606609
HP:0002240	HP:0002240	Hepatomegaly	0	TRMU CL E G H	55687	254864				ORPHA	0	623	25481	610230
HP:0002240	HP:0002240	Hepatomegaly	0	USB1 CL E G H	79650	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	282	25792	613276
HP:0002240	HP:0002240	Hepatomegaly	0	VPS13A CL E G H	23230	2388				ORPHA	0	2362	1908	605978
HP:0002240	HP:0002240	Hepatomegaly	0	WRAP53 CL E G H	55135	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	484	25522	612661
HP:0002240	HP:0002240	Hepatomegaly	0	XRCC4 CL E G H	7518	99812				ORPHA	0	129	12831	194363
HP:0002240	HP:0002240	Hepatomegaly	0	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	0	274	24249	610957
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ABCC2 CL E G H	1244	234				ORPHA	0	509	53	601107
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ADA2 CL E G H	51816	615688	Polyarteritis nodosa, childhoood-onset	615688	C3887654	OMIM	0	533	1839	607575
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	AGA CL E G H	175	93				ORPHA	0	509	318	613228
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	AGGF1 CL E G H	55109	90308				ORPHA	0	48	24684	608464
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ALDH7A1 CL E G H	501	3006				ORPHA	0	884	877	107323
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ALMS1 CL E G H	7840	64				ORPHA	0	5525	428	606844
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	AMACR CL E G H	23600	79095				ORPHA	0	392	451	604489
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ATP6V1B2 CL E G H	526	3473	Meningoencephalocele			ORPHA	0	167	854	606939
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	ATRX CL E G H	546	100075				ORPHA	0	1925	886	300032
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	AUH CL E G H	549	67046				ORPHA	0	249	890	600529
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	BSCL2 CL E G H	26580	363400				ORPHA	0	510	15832	606158
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	BSCL2 CL E G H	26580	615924	Encephalopathy, progressive, with or without lipodystrophy	615924	C4014700	OMIM	0	510	15832	606158
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	BTNL2 CL E G H	56244	797				ORPHA	0	30	1142	606000
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CBS CL E G H	875	394				ORPHA	0	1120	1550	613381
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CCDC47 CL E G H	57003	618268	618268	618268		OMIM	0	45	24856	0
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CD28 CL E G H	940	2584				ORPHA	0	40	1653	186760
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CFTR CL E G H	1080	586	Al Gazali Khidr Prem Chandran syndrome			ORPHA	0	4433	1884	602421
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CLCA4 CL E G H	22802	586	Al Gazali Khidr Prem Chandran syndrome			ORPHA	0	58	2018	616857
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	COG4 CL E G H	25839	613489	Congenital disorder of glycosylation type 2J	613489	C3150736	OMIM	0	339	18620	606976
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	COG6 CL E G H	57511	614576	Congenital disorder of glycosylation type 2L	614576	C3553230	OMIM	0	366	18621	606977
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CTC1 CL E G H	80169	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	1292	26169	613129
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CTLA4 CL E G H	1493	2584				ORPHA	0	232	2505	123890
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	CTSK CL E G H	1513	763				ORPHA	0	302	2536	601105
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	DAXX CL E G H	1616	100075				ORPHA	0	41	2681	603186
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	DCTN4 CL E G H	51164	586	Al Gazali Khidr Prem Chandran syndrome			ORPHA	0	33	15518	614758
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	DKC1 CL E G H	1736	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	534	2890	300126
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	DLD CL E G H	1738	246900	Maple syrup urine disease, type 3	246900	CN043137	OMIM	0	520	2898	238331
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	DNAJC21 CL E G H	134218	811	Balo disease			ORPHA	0	337	27030	617048
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	DNASE1L3 CL E G H	1776	36412				ORPHA	0	200	2959	602244
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	EARS2 CL E G H	124454	614924	Combined oxidative phosphorylation deficiency 12	614924	C3554079	OMIM	0	336	29419	612799
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	EFL1 CL E G H	79631	811	Balo disease			ORPHA	0	394	25789	617538
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	FAH CL E G H	2184	882	Biemond syndrome 2			ORPHA	0	601	3579	613871
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	HBG2 CL E G H	3048	613977	Cyanosis, transient neonatal	613977	C3151421	OMIM	0	83	4832	142250
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	HJV CL E G H	148738	602390	Hemochromatosis type 2A	602390	C1865614	OMIM	0	470	4887	608374
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	HLA-DRB1 CL E G H	3123	85414				ORPHA	0	41	4948	142857
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	HLA-DRB1 CL E G H	3123	797				ORPHA	0	41	4948	142857
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	HNF4A CL E G H	3172	616026	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young	616026	C4014962	OMIM	0	509	5024	600281
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	HPGD CL E G H	3248	2796	Familial hypocalciuric hypercalcemia		C1809471	ORPHA	0	227	5154	601688
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	IFIH1 CL E G H	64135	615846	Aicardi-Goutieres syndrome 7	615846	C3888244	OMIM	0	1170	18873	606951
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	IL6 CL E G H	3569	85414				ORPHA	0	46	6018	147620
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	INPPL1 CL E G H	3636	2746	Hoyeraal syndrome			ORPHA	0	467	6080	600829
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	KCNH1 CL E G H	3756	3473	Meningoencephalocele			ORPHA	0	566	6250	603305
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	KRT16 CL E G H	3868	2309	Fetal parainfluenza virus type 3 syndrome			ORPHA	0	109	6423	148067
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	KRT17 CL E G H	3872	2309	Fetal parainfluenza virus type 3 syndrome			ORPHA	0	101	6427	148069
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	KRT6A CL E G H	3853	2309	Fetal parainfluenza virus type 3 syndrome			ORPHA	0	147	6443	148041
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	KRT6B CL E G H	3854	2309	Fetal parainfluenza virus type 3 syndrome			ORPHA	0	116	6444	148042
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	LACC1 CL E G H	144811	85414				ORPHA	0	79	26789	613409
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	LCAT CL E G H	3931	79292				ORPHA	0	216	6522	606967
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	LIG4 CL E G H	3981	99812				ORPHA	0	626	6601	601837
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	MECP2 CL E G H	4204	778				ORPHA	0	1925	6990	300005
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	MIF CL E G H	4282	85414				ORPHA	0	130	7097	153620
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	MMUT CL E G H	4594	79312				ORPHA	0	896	7526	609058
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	MT-TE CL E G H	4556	254864				ORPHA	0		7479	590025
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	MYD88 CL E G H	4615	33226				ORPHA	0	141	7562	602170
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	NAGA CL E G H	4668	79279				ORPHA	0	230	7631	104170
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	NGLY1 CL E G H	55768	615273	Congenital disorder of deglycosylation	615273	C3808991	OMIM	0	656	17646	610661
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	NHP2 CL E G H	55651	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	196	14377	606470
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	NOP10 CL E G H	55505	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	102	14378	606471
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	NOTCH2 CL E G H	4853	955				ORPHA	0	1122	7882	600275
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	NPC1 CL E G H	4864	257220	Niemann-Pick disease type C1	257220	C3179455	OMIM	0	2109	7897	607623
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PARN CL E G H	5073	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	627	8609	604212
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PEPD CL E G H	5184	742	Aortic dissection lentiginosis			ORPHA	0	496	8840	613230
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PIEZO1 CL E G H	9780	194380	Xerocytosis	194380	C0272051	OMIM	0	1433	28993	611184
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PIGA CL E G H	5277	300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	300868	C3275508	OMIM	0	483	8957	311770
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PIGS CL E G H	94005	618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18	618143		OMIM	0	69	14937	610271
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PLPBP CL E G H	11212	3006				ORPHA	0	242	9457	604436
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PNPLA2 CL E G H	57104	98908				ORPHA	0	566	30802	609059
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	PYGL CL E G H	5836	232700	Glycogen storage disease, type VI	232700	C0017925	OMIM	0	324	9725	613741
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	0	482	15864	610924
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	RMND1 CL E G H	55005	614922	Combined oxidative phosphorylation deficiency 11	614922	C3554067	OMIM	0	262	21176	614917
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	RMRP CL E G H	6023	175				ORPHA	0	802	10031	157660
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	RTEL1 CL E G H	51750	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	2597	15888	608833
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	SBDS CL E G H	51119	811	Balo disease			ORPHA	0	119	19440	607444
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	SLC13A5 CL E G H	284111	3006				ORPHA	0	685	23089	608305
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	SLC25A1 CL E G H	6576	615182	Combined d-2- and l-2-hydroxyglutaric aciduria	615182	C2746066	OMIM	0	568	10979	190315
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	SLC25A19 CL E G H	60386	99742				ORPHA	0	182	14409	606521
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	SLCO2A1 CL E G H	6578	2796	Familial hypocalciuric hypercalcemia		C1809471	ORPHA	0	247	10955	601460
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	SOX10 CL E G H	6663	163746				ORPHA	0	378	11190	602229
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	SRP54 CL E G H	6729	811	Balo disease			ORPHA	0	204	11301	604857
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	STX11 CL E G H	8676	603552	Hemophagocytic lymphohistiocytosis, familial, 4	603552	C1863728	OMIM	0	337	11429	605014
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	STX1A CL E G H	6804	586	Al Gazali Khidr Prem Chandran syndrome			ORPHA	0	178	11433	186590
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	TERC CL E G H	7012	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	358	11727	602322
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	TERT CL E G H	7015	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	2810	11730	187270
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	TGFB1 CL E G H	7040	586	Al Gazali Khidr Prem Chandran syndrome			ORPHA	0	286	11766	190180
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	TGFB1 CL E G H	7040	1328	Chromosome 15 ring		CN035931	ORPHA	0	286	11766	190180
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	TINF2 CL E G H	26277	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	411	11824	604319
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	TNFRSF1B CL E G H	7133	2584				ORPHA	0	66	11917	191191
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	TRAPPC11 CL E G H	60684	615356	Limb-girdle muscular dystrophy, type 2S	615356	C3809236	OMIM	0	983	25751	614138
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	TREX1 CL E G H	11277	225750	Aicardi Goutieres syndrome 1	225750	C0796126	OMIM	0	418	12269	606609
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	TRMU CL E G H	55687	254864				ORPHA	0	623	25481	610230
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	USB1 CL E G H	79650	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	282	25792	613276
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	VPS13A CL E G H	23230	2388				ORPHA	0	2362	1908	605978
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	WRAP53 CL E G H	55135	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	0	484	25522	612661
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	XRCC4 CL E G H	7518	99812				ORPHA	0	129	12831	194363
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	0	274	24249	610957

Genes (415) :A2ML1 ABCA1 ABCB11 ABCB4 ABCC2 ABCC8 ABCD3 ABHD5 ACADL ACADM ACADVL ACOX1 ADA ADA2 ADAMTSL2 AGA AGGF1 AGL AGPAT2 AKR1D1 AKT2 ALDH7A1 ALDOB ALG1 ALG13 ALG2 ALG8 ALMS1 AMACR AP3B1 AP3D1 APOA1 APOC2 APOE APOPT1 ARSB ASAH1 ASL ASS1 ATP6AP1 ATP6V1B2 ATP7B ATP8B1 ATPAF2 ATRX AUH B2M BOLA3 BRAF BSCL2 BTD BTNL2 C15ORF41 C15orf41 CA2 CASP10 CASR CAV1 CAVIN1 CBS CC2D2A CCDC115 CCDC47 CD19 CD27 CD28 CD40LG CD55 CD96 CDKN1C CFTR CHD7 CIDEC CLCA4 CLCN7 CLDN1 COA7 COA8 COG4 COG6 COG7 COX10 COX14 COX20 COX4I2 COX6B1 COX8A CPOX CPT1A CPT2 CR2 CTC1 CTLA4 CTNNB1 CTNS CTSK CYBA CYBB CYBC1 CYP7B1 DAXX DCDC2 DCLRE1C DCTN4 DDRGK1 DGUOK DHDDS DHFR DIS3L2 DKC1 DLD DNAJC21 DNASE1L3 DOLK DPM1 DYNC2LI1 EARS2 EFL1 EIF2AK3 ERCC6 ERCC8 ETFA ETFB ETFDH EWSR1 F5 FAH FAM111B FAS FASLG FASTKD2 FBN1 FBP1 FDX2 FERMT3 FGA FOS FUCA1 G6PC G6PC3 GAA GALE GALNS GALT GATA2 GBA GCDH GFM1 GLB1 GLIS3 GLRX5 GNE GNMT GNPTAB GNS GPC3 GPC4 GPD1 GPIHBP1 GPR35 GUCY2D GUSB H19 H19-ICR HADHA HAMP HBA1 HBA2 HBB HBG1 HBG2 HFE HGSNAT HJV HLA-DRB1 HMGCL HMGCS2 HMOX1 HNF1A HNF4A HPGD HSD17B4 HSD3B7 HYMAI ICOS IDS IDUA IFIH1 IFT122 IFT140 IFT172 IGF2 IL1RN IL2RA IL2RG IL6 IL7R INPP5E INPPL1 ITCH ITK JAK2 JAM3 KAT6B KCNH1 KCNJ11 KCNN4 KCNQ1 KCNQ1OT1 KLF1 KRAS KRT16 KRT17 KRT6A KRT6B LACC1 LARS LBR LCAT LIG4 LIPA LIPE LMNA LPIN2 LRP5 LYST LYZ LZTR1 MAN2B1 MARS MCM4 MECP2 MEFV MET MFN2 MIF MMAA MMAB MMUT MOGS MPC1 MPI MPL MPV17 MRPL3 MRPS7 MST1 MT-TN MT-TS1 MT-TW MVK MYD88 NAGA NAGLU NCF1 NCF2 NCF4 NDUFAF1 NEK8 NEU1 NGLY1 NHLRC2 NHP2 NLRC4 NLRP3 NOP10 NOTCH2 NPC1 NPC2 NPHP3 NRAS OCLN OSTM1 PARN PC PCCA PCCB PCK1 PDGFB PDGFRA PDGFRB PEPD PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PHKA2 PHKB PHKG2 PIEZO1 PIGA PIGM PIGS PKHD1 PLAGL1 PLPBP PMM2 PNPLA2 POLD1 POLG PPARG PRF1 PRKCD PRKCSH PSAP PSMB8 PTPN11 PTPRC PTRH2 PYGL RAB27A RAF1 RAG1 RAG2 RASA2 RBCK1 RFT1 RHAG RHBDF2 RIT1 RMND1 RMRP RNASEH2A RNU4ATAC RPGRIP1L RRAS RTEL1 SAA1 SBDS SC5D SCARB2 SCO1 SCYL1 SEC63 SERPINA1 SGSH SH2D1A SKIV2L SLC13A5 SLC17A5 SLC20A2 SLC22A5 SLC25A1 SLC25A15 SLC25A19 SLC25A20 SLC29A3 SLC2A1 SLC30A10 SLC37A4 SLC39A4 SLC7A7 SLCO2A1 SMPD1 SNX10 SOS1 SOS2 SOX10 SP110 SRP54 STEAP3 STX11 STX1A SUMF1 TACO1 TALDO1 TCF4 TCIRG1 TERC TERT TET2 TGFB1 TINF2 TMEM165 TMEM67 TMEM70 TNFRSF13B TNFRSF13C TNFRSF1B TNFSF11 TRAPPC11 TREX1 TRIM37 TRMU TRNE TRNN TRNS1 TRNW TSFM TTC37 TUFM UCP2 USB1 USP18 VPS13A VPS33A VPS45 WDR35 WRAP53 WT1 XIAP XPR1 XRCC4 YARS2 ZAP70

Diseases (404) :648 205400 605479 601847 602347 234 276575 616278 98907 275630 99900 201450 201475 2971 264470 39041 102700 615688 231050 93 208400 90308 232400 528 608594 79303 235555 79085 3006 229600 608540 300884 607906 608104 64 203800 79095 214950 608233 617050 105200 207750 158029 412 253200 333 228000 207900 215700 300972 3473 905 277900 243300 211600 604273 100075 67046 614299 363400 269700 615924 253260 797 615631 2785 603909 417 239200 613327 394 216360 1454 616828 618268 240500 615122 2584 3162 308230 226300 211750 130650 586 435651 615238 667 59303 607626 220110 436271 613489 614576 608779 612714 121300 156 255120 228305 228308 600649 608836 1775 616100 33402 219800 763 379 233690 306400 79302 613812 616217 617394 603554 93352 602557 251880 617068 613861 613839 2849 2394 246900 811 260400 36412 91131 608799 617088 614924 1667 226980 133540 216400 231680 83469 131 882 276700 615704 601859 614185 229700 251900 612840 230000 349 232200 612541 232300 230350 253000 230400 3226 77260 77259 85212 77261 230900 231005 608013 230800 231000 231670 609060 230500 253010 610199 616860 3166 269921 606664 576 252500 252940 373 312870 614480 615947 171 204000 253220 5 609016 613313 163596 613978 231214 46532 231222 603903 613977 465508 235200 252930 602390 85414 246450 605911 614034 324575 616026 263455 2796 261515 79301 607765 96191 607594 309900 93474 93476 93473 607014 607015 615846 218330 266920 615630 612852 606367 300400 608971 2746 613385 613011 729 613730 135500 276580 616689 613673 614470 2309 615438 779 215140 613471 79292 99812 75233 75234 278000 435660 280365 2348 79084 151660 77297 2924 167 214500 248500 615486 609981 778 249100 2398 251100 251110 79312 289916 251000 606056 614741 602579 256810 614582 617872 343 33226 79281 79279 252920 233700 233710 618234 615415 256550 615273 618278 1451 575 955 257220 607625 208540 251290 259720 266150 35 606054 261680 1980 607685 742 170100 912 772 601539 214100 614870 266510 614859 614887 614876 614866 614872 614882 214110 614862 614863 306000 261750 613027 194380 300868 610293 618143 263200 212065 98908 610717 615381 203700 79083 603553 615559 139406 611721 2615 256040 616263 232700 79477 615895 244310 612015 185000 2198 614922 175 610333 616651 85445 46059 616719 617004 60 252900 2442 308240 614602 269920 158 212140 615182 238970 99742 607196 159 212138 602782 608885 309854 613280 232220 232240 201100 222700 257200 607616 615085 163746 79124 615234 603552 585 272200 606003 259700 1328 614727 1194 369840 615356 225750 2576 253250 254864 613070 610505 222470 610678 276556 617397 2388 617303 615285 613610 613561 269840 610377

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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