Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002240	HP:0002240	Hepatomegaly	0	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease			191
HP:0002240	HP:0002240	Hepatomegaly	0	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease	.		191
HP:0002240	HP:0002240	Hepatomegaly	0	ABCB11 CL E G H	8647	42	OMIM:605479	Cholestasis, benign recurrent intrahepatic, 2	.		146
HP:0002240	HP:0002240	Hepatomegaly	0	ABCB11 CL E G H	8647	42	OMIM:601847	Cholestasis, progressive familial intrahepatic 2	.		146
HP:0002240	HP:0002240	Hepatomegaly	0	ABCB4 CL E G H	5244	45	OMIM:602347	Cholestasis, progressive familial intrahepatic, 3	.		111
HP:0002240	HP:0002240	Hepatomegaly	0	ABCC2 CL E G H	1244	53	ORPHA:234	Dubin-Johnson syndrome	HP:0040283 - Occasional		119
HP:0002240	HP:0002240	Hepatomegaly	0	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency	HP:0040283 - Occasional		245
HP:0002240	HP:0002240	Hepatomegaly	0	ABCD3 CL E G H	5825	67	OMIM:616278	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5			5
HP:0002240	HP:0002240	Hepatomegaly	0	ABHD5 CL E G H	51099	21396	OMIM:275630	Chanarin-Dorfman syndrome	.		90
HP:0002240	HP:0002240	Hepatomegaly	0	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis	HP:0040282 - Frequent		90
HP:0002240	HP:0002240	Hepatomegaly	0	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of	.		197
HP:0002240	HP:0002240	Hepatomegaly	0	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency	HP:0040282 - Frequent		197
HP:0002240	HP:0002240	Hepatomegaly	0	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		200
HP:0002240	HP:0002240	Hepatomegaly	0	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency			200
HP:0002240	HP:0002240	Hepatomegaly	0	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040283 - Occasional		91
HP:0002240	HP:0002240	Hepatomegaly	0	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency	.		120
HP:0002240	HP:0002240	Hepatomegaly	0	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency	HP:0040282 - Frequent		120
HP:0002240	HP:0002240	Hepatomegaly	0	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent		75
HP:0002240	HP:0002240	Hepatomegaly	0	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	.		75
HP:0002240	HP:0002240	Hepatomegaly	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0002240	HP:0002240	Hepatomegaly	0	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1	.		72
HP:0002240	HP:0002240	Hepatomegaly	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome			116
HP:0002240	HP:0002240	Hepatomegaly	0	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6			116
HP:0002240	HP:0002240	Hepatomegaly	0	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA	.		76
HP:0002240	HP:0002240	Hepatomegaly	0	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria	HP:0040283 - Occasional		76
HP:0002240	HP:0002240	Hepatomegaly	0	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome	HP:0040283 - Occasional		1
HP:0002240	HP:0002240	Hepatomegaly	0	AGL CL E G H	178	321	OMIM:232400	Glycogen storage disease III	.		216
HP:0002240	HP:0002240	Hepatomegaly	0	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040281 - Very frequent		85
HP:0002240	HP:0002240	Hepatomegaly	0	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1	.		85
HP:0002240	HP:0002240	Hepatomegaly	0	AKR1D1 CL E G H	6718	388	OMIM:235555	Bile acid synthesis defect, congenital, 2	.		62
HP:0002240	HP:0002240	Hepatomegaly	0	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2	HP:0040281 - Very frequent		62
HP:0002240	HP:0002240	Hepatomegaly	0	AKT2 CL E G H	208	392	ORPHA:79085	AKT2-related familial partial lipodystrophy	HP:0040281 - Very frequent		12
HP:0002240	HP:0002240	Hepatomegaly	0	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0002240	HP:0002240	Hepatomegaly	0	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII			50
HP:0002240	HP:0002240	Hepatomegaly	0	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary	.		73
HP:0002240	HP:0002240	Hepatomegaly	0	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance	HP:0040283 - Occasional		73
HP:0002240	HP:0002240	Hepatomegaly	0	ALG1 CL E G H	56052	18294	OMIM:608540	Congenital disorder of glycosylation, type Ik	.		58
HP:0002240	HP:0002240	Hepatomegaly	0	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36	.		96
HP:0002240	HP:0002240	Hepatomegaly	0	ALG2 CL E G H	85365	23159	ORPHA:79326	ALG2-CDG	HP:0040283 - Occasional		46
HP:0002240	HP:0002240	Hepatomegaly	0	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii	.		46
HP:0002240	HP:0002240	Hepatomegaly	0	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih	.		46
HP:0002240	HP:0002240	Hepatomegaly	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040282 - Frequent		93
HP:0002240	HP:0002240	Hepatomegaly	0	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il	.		93
HP:0002240	HP:0002240	Hepatomegaly	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional		404
HP:0002240	HP:0002240	Hepatomegaly	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.		404
HP:0002240	HP:0002240	Hepatomegaly	0	AMACR CL E G H	23600	451	OMIM:214950	Bile acid synthesis defect, congenital, 4	.		44
HP:0002240	HP:0002240	Hepatomegaly	0	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent		150
HP:0002240	HP:0002240	Hepatomegaly	0	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0002240	HP:0002240	Hepatomegaly	0	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	.		8
HP:0002240	HP:0002240	Hepatomegaly	0	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0002240	HP:0002240	Hepatomegaly	0	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10			1
HP:0002240	HP:0002240	Hepatomegaly	0	APOA1 CL E G H	335	600	OMIM:105200	Amyloidosis, familial visceral	.		40
HP:0002240	HP:0002240	Hepatomegaly	0	APOC2 CL E G H	344	609	OMIM:207750	APOLIPOPROTEIN C-II DEFICIENCY			27
HP:0002240	HP:0002240	Hepatomegaly	0	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia	HP:0040282 - Frequent		39
HP:0002240	HP:0002240	Hepatomegaly	0	APOE CL E G H	348	613	ORPHA:158029	Sea-blue histiocytosis	HP:0040281 - Very frequent		39
HP:0002240	HP:0002240	Hepatomegaly	0	ARG1 CL E G H	383	663	OMIM:207800	Argininemia			31
HP:0002240	HP:0002240	Hepatomegaly	0	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8			62
HP:0002240	HP:0002240	Hepatomegaly	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI	.		120
HP:0002240	HP:0002240	Hepatomegaly	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease			78
HP:0002240	HP:0002240	Hepatomegaly	0	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis	.		78
HP:0002240	HP:0002240	Hepatomegaly	0	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria	.		81
HP:0002240	HP:0002240	Hepatomegaly	0	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic	.		119
HP:0002240	HP:0002240	Hepatomegaly	0	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis			145
HP:0002240	HP:0002240	Hepatomegaly	0	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional		145
HP:0002240	HP:0002240	Hepatomegaly	0	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL			5
HP:0002240	HP:0002240	Hepatomegaly	0	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002240	HP:0002240	Hepatomegaly	0	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47			5
HP:0002240	HP:0002240	Hepatomegaly	0	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R			36
HP:0002240	HP:0002240	Hepatomegaly	0	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040283 - Occasional		5
HP:0002240	HP:0002240	Hepatomegaly	0	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease	HP:0040281 - Very frequent		315
HP:0002240	HP:0002240	Hepatomegaly	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease	.		315
HP:0002240	HP:0002240	Hepatomegaly	0	ATP8B1 CL E G H	5205	3706	OMIM:243300	Cholestasis, benign recurrent intrahepatic 1	.		144
HP:0002240	HP:0002240	Hepatomegaly	0	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1			144
HP:0002240	HP:0002240	Hepatomegaly	0	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1	.		32
HP:0002240	HP:0002240	Hepatomegaly	0	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040283 - Occasional		169
HP:0002240	HP:0002240	Hepatomegaly	0	AUH CL E G H	549	890	ORPHA:67046	3-methylglutaconic aciduria type 1	HP:0040283 - Occasional		49
HP:0002240	HP:0002240	Hepatomegaly	0	B2M CL E G H	567	914	OMIM:105200	Amyloidosis, familial visceral	.		8
HP:0002240	HP:0002240	Hepatomegaly	0	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG			85
HP:0002240	HP:0002240	Hepatomegaly	0	BAAT CL E G H	570	932	OMIM:619232	BILE ACID CONJUGATION DEFECT 1; BACD1			63
HP:0002240	HP:0002240	Hepatomegaly	0	BAP1 CL E G H	8314	950	ORPHA:50251	Pleural mesothelioma	HP:0040283 - Occasional		184
HP:0002240	HP:0002240	Hepatomegaly	0	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1	.		13
HP:0002240	HP:0002240	Hepatomegaly	0	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040282 - Frequent
HP:0002240	HP:0002240	Hepatomegaly	0	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia	.		14
HP:0002240	HP:0002240	Hepatomegaly	0	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma			5769
HP:0002240	HP:0002240	Hepatomegaly	0	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma			7642
HP:0002240	HP:0002240	Hepatomegaly	0	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy	HP:0040281 - Very frequent		105
HP:0002240	HP:0002240	Hepatomegaly	0	BSCL2 CL E G H	26580	15832	OMIM:615924	Encephalopathy, progressive, with or without lipodystrophy	HP:0040283 - Occasional		105
HP:0002240	HP:0002240	Hepatomegaly	0	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.		105
HP:0002240	HP:0002240	Hepatomegaly	0	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy	HP:0040283 - Occasional		105
HP:0002240	HP:0002240	Hepatomegaly	0	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset	.		223
HP:0002240	HP:0002240	Hepatomegaly	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional		1
HP:0002240	HP:0002240	Hepatomegaly	0	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2	.		1
HP:0002240	HP:0002240	Hepatomegaly	0	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33	HP:0040284 - Very rare
HP:0002240	HP:0002240	Hepatomegaly	0	C2ORF69 CL E G H	205327	26799	OMIM:619423	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0002240	HP:0002240	Hepatomegaly	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis	HP:0040281 - Very frequent		29
HP:0002240	HP:0002240	Hepatomegaly	0	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3			29
HP:0002240	HP:0002240	Hepatomegaly	0	CALR CL E G H	811	1455	ORPHA:131	Budd-Chiari syndrome	HP:0040282 - Frequent		1
HP:0002240	HP:0002240	Hepatomegaly	0	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis	HP:0040282 - Frequent		1
HP:0002240	HP:0002240	Hepatomegaly	0	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent		87
HP:0002240	HP:0002240	Hepatomegaly	0	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA			87
HP:0002240	HP:0002240	Hepatomegaly	0	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe	.		272
HP:0002240	HP:0002240	Hepatomegaly	0	CASR CL E G H	846	1514	ORPHA:417	Neonatal severe primary hyperparathyroidism	HP:0040281 - Very frequent		272
HP:0002240	HP:0002240	Hepatomegaly	0	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy	HP:0040281 - Very frequent		11
HP:0002240	HP:0002240	Hepatomegaly	0	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3	.		11
HP:0002240	HP:0002240	Hepatomegaly	0	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy	HP:0040281 - Very frequent		48
HP:0002240	HP:0002240	Hepatomegaly	0	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4	.		48
HP:0002240	HP:0002240	Hepatomegaly	0	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis			317
HP:0002240	HP:0002240	Hepatomegaly	0	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		317
HP:0002240	HP:0002240	Hepatomegaly	0	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria	HP:0040283 - Occasional		242
HP:0002240	HP:0002240	Hepatomegaly	0	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent		247
HP:0002240	HP:0002240	Hepatomegaly	0	CCDC115 CL E G H	84317	28178	OMIM:616828	Congenital disorder of glycosylation, type IIO	.		3
HP:0002240	HP:0002240	Hepatomegaly	0	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	HP:0040284 - Very rare
HP:0002240	HP:0002240	Hepatomegaly	0	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2	.		38
HP:0002240	HP:0002240	Hepatomegaly	0	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			8
HP:0002240	HP:0002240	Hepatomegaly	0	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta			8
HP:0002240	HP:0002240	Hepatomegaly	0	CD27 CL E G H	939	11922	OMIM:615122	Lymphoproliferative syndrome 2			4
HP:0002240	HP:0002240	Hepatomegaly	0	CD28 CL E G H	940	1653	ORPHA:2584	Classic mycosis fungoides	HP:0040283 - Occasional
HP:0002240	HP:0002240	Hepatomegaly	0	CD28 CL E G H	940	1653	ORPHA:3162	Sézary syndrome	HP:0040282 - Frequent
HP:0002240	HP:0002240	Hepatomegaly	0	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta			18
HP:0002240	HP:0002240	Hepatomegaly	0	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta			24
HP:0002240	HP:0002240	Hepatomegaly	0	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM	.		33
HP:0002240	HP:0002240	Hepatomegaly	0	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy	.		9
HP:0002240	HP:0002240	Hepatomegaly	0	CD70 CL E G H	970	11937	OMIM:618261	LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0002240	HP:0002240	Hepatomegaly	0	CD81 CL E G H	975	1701	OMIM:613496	Immunodeficiency, common variable, 6			1
HP:0002240	HP:0002240	Hepatomegaly	0	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome	.		83
HP:0002240	HP:0002240	Hepatomegaly	0	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia			86
HP:0002240	HP:0002240	Hepatomegaly	0	CDIN1 CL E G H	84529	26929	OMIM:615631	Anemia, congenital dyserythropoietic, type Ib	.
HP:0002240	HP:0002240	Hepatomegaly	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	.		114
HP:0002240	HP:0002240	Hepatomegaly	0	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma			289
HP:0002240	HP:0002240	Hepatomegaly	0	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis			1371
HP:0002240	HP:0002240	Hepatomegaly	0	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent		515
HP:0002240	HP:0002240	Hepatomegaly	0	CIDEC CL E G H	63924	24229	ORPHA:435651	CIDEC-related familial partial lipodystrophy	HP:0040281 - Very frequent		8
HP:0002240	HP:0002240	Hepatomegaly	0	CIDEC CL E G H	63924	24229	OMIM:615238	Lipodystrophy, familial partial, type 5	.		8
HP:0002240	HP:0002240	Hepatomegaly	0	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		102
HP:0002240	HP:0002240	Hepatomegaly	0	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development	.		102
HP:0002240	HP:0002240	Hepatomegaly	0	CLCN7 CL E G H	1186	2025	ORPHA:210110	Intermediate osteopetrosis			102
HP:0002240	HP:0002240	Hepatomegaly	0	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4	.		102
HP:0002240	HP:0002240	Hepatomegaly	0	CLDN1 CL E G H	9076	2032	OMIM:607626	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis	.		11
HP:0002240	HP:0002240	Hepatomegaly	0	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome	HP:0040281 - Very frequent		11
HP:0002240	HP:0002240	Hepatomegaly	0	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0002240	HP:0002240	Hepatomegaly	0	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	HP:0040282 - Frequent
HP:0002240	HP:0002240	Hepatomegaly	0	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG			52
HP:0002240	HP:0002240	Hepatomegaly	0	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG			67
HP:0002240	HP:0002240	Hepatomegaly	0	COG4 CL E G H	25839	18620	OMIM:613489	Congenital disorder of glycosylation, type IIj	HP:0040283 - Occasional		67
HP:0002240	HP:0002240	Hepatomegaly	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional		79
HP:0002240	HP:0002240	Hepatomegaly	0	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L			71
HP:0002240	HP:0002240	Hepatomegaly	0	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG			64
HP:0002240	HP:0002240	Hepatomegaly	0	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.		64
HP:0002240	HP:0002240	Hepatomegaly	0	COX14 CL E G H	84987	28216	OMIM:619053	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10			4
HP:0002240	HP:0002240	Hepatomegaly	0	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis	.		13
HP:0002240	HP:0002240	Hepatomegaly	0	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0002240	HP:0002240	Hepatomegaly	0	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria	.		72
HP:0002240	HP:0002240	Hepatomegaly	0	CPOX CL E G H	1371	2321	OMIM:618892	Harderoporphyria	.		72
HP:0002240	HP:0002240	Hepatomegaly	0	CPT1A CL E G H	1374	2328	ORPHA:156	Carnitine palmitoyl transferase 1A deficiency	HP:0040282 - Frequent		99
HP:0002240	HP:0002240	Hepatomegaly	0	CPT1A CL E G H	1374	2328	OMIM:255120	Carnitine palmitoyltransferase I deficiency	.		99
HP:0002240	HP:0002240	Hepatomegaly	0	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form	HP:0040282 - Frequent		101
HP:0002240	HP:0002240	Hepatomegaly	0	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form	HP:0040283 - Occasional		101
HP:0002240	HP:0002240	Hepatomegaly	0	CPT2 CL E G H	1376	2330	OMIM:600649	Carnitine palmitoyltransferase II deficiency, infantile			101
HP:0002240	HP:0002240	Hepatomegaly	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.		101
HP:0002240	HP:0002240	Hepatomegaly	0	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2	.		10
HP:0002240	HP:0002240	Hepatomegaly	0	CSF3R CL E G H	1441	2439	OMIM:162830	Neutrophilia, hereditary			34
HP:0002240	HP:0002240	Hepatomegaly	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		160
HP:0002240	HP:0002240	Hepatomegaly	0	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5			10
HP:0002240	HP:0002240	Hepatomegaly	0	CTLA4 CL E G H	1493	2505	ORPHA:2584	Classic mycosis fungoides	HP:0040283 - Occasional		10
HP:0002240	HP:0002240	Hepatomegaly	0	CTLA4 CL E G H	1493	2505	ORPHA:3162	Sézary syndrome	HP:0040282 - Frequent		10
HP:0002240	HP:0002240	Hepatomegaly	0	CTNNB1 CL E G H	1499	2514	ORPHA:33402	Pediatric hepatocellular carcinoma	HP:0040281 - Very frequent		88
HP:0002240	HP:0002240	Hepatomegaly	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic	.		178
HP:0002240	HP:0002240	Hepatomegaly	0	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis			51
HP:0002240	HP:0002240	Hepatomegaly	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis	HP:0040283 - Occasional		39
HP:0002240	HP:0002240	Hepatomegaly	0	CYBA CL E G H	1535	2577	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent		27
HP:0002240	HP:0002240	Hepatomegaly	0	CYBA CL E G H	1535	2577	OMIM:233690	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE	.		27
HP:0002240	HP:0002240	Hepatomegaly	0	CYBB CL E G H	1536	2578	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent		111
HP:0002240	HP:0002240	Hepatomegaly	0	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked	.		111
HP:0002240	HP:0002240	Hepatomegaly	0	CYBC1 CL E G H	79415	28672	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent
HP:0002240	HP:0002240	Hepatomegaly	0	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0002240	HP:0002240	Hepatomegaly	0	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3	.		57
HP:0002240	HP:0002240	Hepatomegaly	0	CYP7B1 CL E G H	9420	2652	ORPHA:79302	Congenital bile acid synthesis defect type 3	HP:0040281 - Very frequent		57
HP:0002240	HP:0002240	Hepatomegaly	0	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy	HP:0040283 - Occasional
HP:0002240	HP:0002240	Hepatomegaly	0	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040283 - Occasional
HP:0002240	HP:0002240	Hepatomegaly	0	DCDC2 CL E G H	51473	18141	OMIM:616217	Nephronophthisis 19	.		8
HP:0002240	HP:0002240	Hepatomegaly	0	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal	.		8
HP:0002240	HP:0002240	Hepatomegaly	0	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome			8
HP:0002240	HP:0002240	Hepatomegaly	0	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome	.		94
HP:0002240	HP:0002240	Hepatomegaly	0	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent		94
HP:0002240	HP:0002240	Hepatomegaly	0	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation			94
HP:0002240	HP:0002240	Hepatomegaly	0	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type	.
HP:0002240	HP:0002240	Hepatomegaly	0	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0002240	HP:0002240	Hepatomegaly	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0002240	HP:0002240	Hepatomegaly	0	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	.		57
HP:0002240	HP:0002240	Hepatomegaly	0	DGUOK CL E G H	1716	2858	OMIM:617068	Portal hypertension, noncirrhotic	.		57
HP:0002240	HP:0002240	Hepatomegaly	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0002240	HP:0002240	Hepatomegaly	0	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59	.		47
HP:0002240	HP:0002240	Hepatomegaly	0	DHFR CL E G H	1719	2861	OMIM:613839	Megaloblastic anemia due to dihydrofolate reductase deficiency	.		7
HP:0002240	HP:0002240	Hepatomegaly	0	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome	HP:0040281 - Very frequent		164
HP:0002240	HP:0002240	Hepatomegaly	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		65
HP:0002240	HP:0002240	Hepatomegaly	0	DLD CL E G H	1738	2898	OMIM:246900	Dihydrolipoamide dehydrogenase deficiency	HP:0040283 - Occasional		89
HP:0002240	HP:0002240	Hepatomegaly	0	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency	HP:0040282 - Frequent		89
HP:0002240	HP:0002240	Hepatomegaly	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0002240	HP:0002240	Hepatomegaly	0	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040284 - Very rare		5
HP:0002240	HP:0002240	Hepatomegaly	0	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1	.		5
HP:0002240	HP:0002240	Hepatomegaly	0	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis	HP:0040283 - Occasional		3
HP:0002240	HP:0002240	Hepatomegaly	0	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0002240	HP:0002240	Hepatomegaly	0	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40			6
HP:0002240	HP:0002240	Hepatomegaly	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040283 - Occasional		38
HP:0002240	HP:0002240	Hepatomegaly	0	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.		27
HP:0002240	HP:0002240	Hepatomegaly	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040283 - Occasional		27
HP:0002240	HP:0002240	Hepatomegaly	0	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	HP:0040283 - Occasional		26
HP:0002240	HP:0002240	Hepatomegaly	0	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly	.		7
HP:0002240	HP:0002240	Hepatomegaly	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease			4
HP:0002240	HP:0002240	Hepatomegaly	0	DZIP1L CL E G H	199221	26551	OMIM:617610	Polycystic kidney disease 5			4
HP:0002240	HP:0002240	Hepatomegaly	0	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12	HP:0040283 - Occasional		80
HP:0002240	HP:0002240	Hepatomegaly	0	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040284 - Very rare		1
HP:0002240	HP:0002240	Hepatomegaly	0	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2	.		1
HP:0002240	HP:0002240	Hepatomegaly	0	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	.		65
HP:0002240	HP:0002240	Hepatomegaly	0	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040283 - Occasional		65
HP:0002240	HP:0002240	Hepatomegaly	0	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent		51
HP:0002240	HP:0002240	Hepatomegaly	0	ERBB3 CL E G H	2065	3431	OMIM:133180	Erythroleukemia, familial, susceptibility to	.		12
HP:0002240	HP:0002240	Hepatomegaly	0	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		20
HP:0002240	HP:0002240	Hepatomegaly	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional		158
HP:0002240	HP:0002240	Hepatomegaly	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional		199
HP:0002240	HP:0002240	Hepatomegaly	0	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		199
HP:0002240	HP:0002240	Hepatomegaly	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional		199
HP:0002240	HP:0002240	Hepatomegaly	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.		199
HP:0002240	HP:0002240	Hepatomegaly	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.		55
HP:0002240	HP:0002240	Hepatomegaly	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional		55
HP:0002240	HP:0002240	Hepatomegaly	0	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		55
HP:0002240	HP:0002240	Hepatomegaly	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional		55
HP:0002240	HP:0002240	Hepatomegaly	0	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.		37
HP:0002240	HP:0002240	Hepatomegaly	0	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.		27
HP:0002240	HP:0002240	Hepatomegaly	0	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.		77
HP:0002240	HP:0002240	Hepatomegaly	0	EWSR1 CL E G H	2130	3508	ORPHA:83469	Desmoplastic small round cell tumor	HP:0040282 - Frequent
HP:0002240	HP:0002240	Hepatomegaly	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional		3
HP:0002240	HP:0002240	Hepatomegaly	0	F5 CL E G H	2153	3542	ORPHA:131	Budd-Chiari syndrome	HP:0040282 - Frequent		159
HP:0002240	HP:0002240	Hepatomegaly	0	FAH CL E G H	2184	3579	ORPHA:882	Tyrosinemia type 1	HP:0040283 - Occasional		107
HP:0002240	HP:0002240	Hepatomegaly	0	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I	.		107
HP:0002240	HP:0002240	Hepatomegaly	0	FAM111B CL E G H	374393	24200	OMIM:615704	Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis	.		6
HP:0002240	HP:0002240	Hepatomegaly	0	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0002240	HP:0002240	Hepatomegaly	0	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome	.		59
HP:0002240	HP:0002240	Hepatomegaly	0	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent		59
HP:0002240	HP:0002240	Hepatomegaly	0	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome	.		37
HP:0002240	HP:0002240	Hepatomegaly	0	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent		37
HP:0002240	HP:0002240	Hepatomegaly	0	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2			1361
HP:0002240	HP:0002240	Hepatomegaly	0	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency	HP:0040283 - Occasional		64
HP:0002240	HP:0002240	Hepatomegaly	0	FBP1 CL E G H	2203	3606	OMIM:229700	Fructose-1,6-Bisphosphatase deficiency	.		64
HP:0002240	HP:0002240	Hepatomegaly	0	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis			6
HP:0002240	HP:0002240	Hepatomegaly	0	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy	.
HP:0002240	HP:0002240	Hepatomegaly	0	FERMT3 CL E G H	83706	23151	OMIM:612840	Leukocyte adhesion deficiency, type III	.		23
HP:0002240	HP:0002240	Hepatomegaly	0	FGA CL E G H	2243	3661	OMIM:105200	Amyloidosis, familial visceral	.		47
HP:0002240	HP:0002240	Hepatomegaly	0	FGFR2 CL E G H	2263	3689	OMIM:614592	Bent bone dysplasia syndrome			175
HP:0002240	HP:0002240	Hepatomegaly	0	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia			175
HP:0002240	HP:0002240	Hepatomegaly	0	FLNC CL E G H	2318	3756	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional		197
HP:0002240	HP:0002240	Hepatomegaly	0	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0002240	HP:0002240	Hepatomegaly	0	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy	HP:0040281 - Very frequent
HP:0002240	HP:0002240	Hepatomegaly	0	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		61
HP:0002240	HP:0002240	Hepatomegaly	0	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS	.		43
HP:0002240	HP:0002240	Hepatomegaly	0	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis	HP:0040281 - Very frequent		43
HP:0002240	HP:0002240	Hepatomegaly	0	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia	.
HP:0002240	HP:0002240	Hepatomegaly	0	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive	.		37
HP:0002240	HP:0002240	Hepatomegaly	0	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset	HP:0040281 - Very frequent		407
HP:0002240	HP:0002240	Hepatomegaly	0	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II	.		407
HP:0002240	HP:0002240	Hepatomegaly	0	GALE CL E G H	2582	4116	OMIM:230350	Galactose epimerase deficiency	.		52
HP:0002240	HP:0002240	Hepatomegaly	0	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency	HP:0040283 - Occasional		23
HP:0002240	HP:0002240	Hepatomegaly	0	GALM CL E G H	130589	24063	ORPHA:570422	Galactose mutarotase deficiency	HP:0040284 - Very rare
HP:0002240	HP:0002240	Hepatomegaly	0	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A	.		123
HP:0002240	HP:0002240	Hepatomegaly	0	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia	HP:0040282 - Frequent		351
HP:0002240	HP:0002240	Hepatomegaly	0	GALT CL E G H	2592	4135	OMIM:230400	GALACTOSEMIA	.		351
HP:0002240	HP:0002240	Hepatomegaly	0	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome	HP:0040282 - Frequent		137
HP:0002240	HP:0002240	Hepatomegaly	0	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease	HP:0040282 - Frequent
HP:0002240	HP:0002240	Hepatomegaly	0	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1	HP:0040281 - Very frequent
HP:0002240	HP:0002240	Hepatomegaly	0	GBA1 CL E G H	2629	4177	ORPHA:77260	Gaucher disease type 2	HP:0040281 - Very frequent
HP:0002240	HP:0002240	Hepatomegaly	0	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3	HP:0040281 - Very frequent
HP:0002240	HP:0002240	Hepatomegaly	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0002240	HP:0002240	Hepatomegaly	0	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I	.
HP:0002240	HP:0002240	Hepatomegaly	0	GBA1 CL E G H	2629	4177	OMIM:230900	Gaucher disease, type II	.
HP:0002240	HP:0002240	Hepatomegaly	0	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III	.
HP:0002240	HP:0002240	Hepatomegaly	0	GBA1 CL E G H	2629	4177	OMIM:231005	Gaucher disease, type IIIC	.
HP:0002240	HP:0002240	Hepatomegaly	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0002240	HP:0002240	Hepatomegaly	0	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV			86
HP:0002240	HP:0002240	Hepatomegaly	0	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I	.		115
HP:0002240	HP:0002240	Hepatomegaly	0	GCLC CL E G H	2729	4311	ORPHA:33574	Glutamate-cysteine ligase deficiency			2
HP:0002240	HP:0002240	Hepatomegaly	0	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1	.		85
HP:0002240	HP:0002240	Hepatomegaly	0	GIMAP5 CL E G H	55340	18005	OMIM:619463	PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0002240	HP:0002240	Hepatomegaly	0	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1			120
HP:0002240	HP:0002240	Hepatomegaly	0	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I			120
HP:0002240	HP:0002240	Hepatomegaly	0	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II	.		120
HP:0002240	HP:0002240	Hepatomegaly	0	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)	.		120
HP:0002240	HP:0002240	Hepatomegaly	0	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism	.		143
HP:0002240	HP:0002240	Hepatomegaly	0	GLRX5 CL E G H	51218	20134	OMIM:616860	Anemia, sideroblastic, 3, pyridoxine-refractory	.		17
HP:0002240	HP:0002240	Hepatomegaly	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002240	HP:0002240	Hepatomegaly	0	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA	.		173
HP:0002240	HP:0002240	Hepatomegaly	0	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria	HP:0040281 - Very frequent		173
HP:0002240	HP:0002240	Hepatomegaly	0	GNMT CL E G H	27232	4415	OMIM:606664	GLYCINE N-METHYLTRANSFERASE DEFICIENCY	.		3
HP:0002240	HP:0002240	Hepatomegaly	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.		240
HP:0002240	HP:0002240	Hepatomegaly	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0002240	HP:0002240	Hepatomegaly	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID	.		69
HP:0002240	HP:0002240	Hepatomegaly	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040281 - Very frequent		73
HP:0002240	HP:0002240	Hepatomegaly	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0002240	HP:0002240	Hepatomegaly	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040281 - Very frequent
HP:0002240	HP:0002240	Hepatomegaly	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0002240	HP:0002240	Hepatomegaly	0	GPD1 CL E G H	2819	4455	OMIM:614480	Hypertriglyceridemia, transient infantile	.		3
HP:0002240	HP:0002240	Hepatomegaly	0	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID	.		12
HP:0002240	HP:0002240	Hepatomegaly	0	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent		2
HP:0002240	HP:0002240	Hepatomegaly	0	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I	.		124
HP:0002240	HP:0002240	Hepatomegaly	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII	.		54
HP:0002240	HP:0002240	Hepatomegaly	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	.
HP:0002240	HP:0002240	Hepatomegaly	0	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	HP:0040282 - Frequent		99
HP:0002240	HP:0002240	Hepatomegaly	0	HADHA CL E G H	3030	4801	OMIM:609016	Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency	.	HP:0003593 - Infantile onset	99
HP:0002240	HP:0002240	Hepatomegaly	0	HAMP CL E G H	57817	15598	OMIM:613313	Hemochromatosis, type 2B	.		15
HP:0002240	HP:0002240	Hepatomegaly	0	HAVCR2 CL E G H	84868	18437	ORPHA:86884	Subcutaneous panniculitis-like T-cell lymphoma
HP:0002240	HP:0002240	Hepatomegaly	0	HBA1 CL E G H	3039	4823	ORPHA:163596	Hb Bart's hydrops fetalis	HP:0040282 - Frequent		200
HP:0002240	HP:0002240	Hepatomegaly	0	HBA1 CL E G H	3039	4823	OMIM:613978	Hemoglobin H disease	.		200
HP:0002240	HP:0002240	Hepatomegaly	0	HBA2 CL E G H	3040	4824	ORPHA:163596	Hb Bart's hydrops fetalis	HP:0040282 - Frequent		88
HP:0002240	HP:0002240	Hepatomegaly	0	HBA2 CL E G H	3040	4824	OMIM:613978	Hemoglobin H disease	.		88
HP:0002240	HP:0002240	Hepatomegaly	0	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia	HP:0040283 - Occasional		580
HP:0002240	HP:0002240	Hepatomegaly	0	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040282 - Frequent		580
HP:0002240	HP:0002240	Hepatomegaly	0	HBB CL E G H	3043	4827	OMIM:603902	BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE			580
HP:0002240	HP:0002240	Hepatomegaly	0	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia			580
HP:0002240	HP:0002240	Hepatomegaly	0	HBB CL E G H	3043	4827	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	HP:0040282 - Frequent		580
HP:0002240	HP:0002240	Hepatomegaly	0	HBB CL E G H	3043	4827	OMIM:603903	Sickle cell anemia	.		580
HP:0002240	HP:0002240	Hepatomegaly	0	HBG1 CL E G H	3047	4831	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	HP:0040282 - Frequent		35
HP:0002240	HP:0002240	Hepatomegaly	0	HBG2 CL E G H	3048	4832	OMIM:613977	Cyanosis, transient neonatal	HP:0040283 - Occasional		50
HP:0002240	HP:0002240	Hepatomegaly	0	HBG2 CL E G H	3048	4832	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	HP:0040282 - Frequent		50
HP:0002240	HP:0002240	Hepatomegaly	0	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease			80
HP:0002240	HP:0002240	Hepatomegaly	0	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form			80
HP:0002240	HP:0002240	Hepatomegaly	0	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1	.		38
HP:0002240	HP:0002240	Hepatomegaly	0	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040282 - Frequent		38
HP:0002240	HP:0002240	Hepatomegaly	0	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC	.		86
HP:0002240	HP:0002240	Hepatomegaly	0	HJV CL E G H	148738	4887	OMIM:602390	Hemochromatosis, type 2A
HP:0002240	HP:0002240	Hepatomegaly	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional		2
HP:0002240	HP:0002240	Hepatomegaly	0	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1	HP:0040283 - Occasional		2
HP:0002240	HP:0002240	Hepatomegaly	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040283 - Occasional		2
HP:0002240	HP:0002240	Hepatomegaly	0	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040282 - Frequent		35
HP:0002240	HP:0002240	Hepatomegaly	0	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency	.		35
HP:0002240	HP:0002240	Hepatomegaly	0	HMGCS2 CL E G H	3158	5008	OMIM:605911	3-Hydroxy-3-Methylglutaryl-Coa synthase-2 deficiency	.		42
HP:0002240	HP:0002240	Hepatomegaly	0	HMOX1 CL E G H	3162	5013	OMIM:614034	HEME OXYGENASE 1 DEFICIENCY; HMOX1D			3
HP:0002240	HP:0002240	Hepatomegaly	0	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency	HP:0040284 - Very rare		161
HP:0002240	HP:0002240	Hepatomegaly	0	HNF4A CL E G H	3172	5024	OMIM:616026	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young	HP:0040283 - Occasional		138
HP:0002240	HP:0002240	Hepatomegaly	0	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040281 - Very frequent		138
HP:0002240	HP:0002240	Hepatomegaly	0	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis	HP:0040283 - Occasional		55
HP:0002240	HP:0002240	Hepatomegaly	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0002240	HP:0002240	Hepatomegaly	0	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1	.		26
HP:0002240	HP:0002240	Hepatomegaly	0	HSD3B7 CL E G H	80270	18324	ORPHA:79301	Congenital bile acid synthesis defect type 1	HP:0040281 - Very frequent		26
HP:0002240	HP:0002240	Hepatomegaly	0	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0002240	HP:0002240	Hepatomegaly	0	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia	.
HP:0002240	HP:0002240	Hepatomegaly	0	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome
HP:0002240	HP:0002240	Hepatomegaly	0	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1	.		32
HP:0002240	HP:0002240	Hepatomegaly	0	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2	.		32
HP:0002240	HP:0002240	Hepatomegaly	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0002240	HP:0002240	Hepatomegaly	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0002240	HP:0002240	Hepatomegaly	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.		86
HP:0002240	HP:0002240	Hepatomegaly	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.		115
HP:0002240	HP:0002240	Hepatomegaly	0	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome	HP:0040281 - Very frequent		115
HP:0002240	HP:0002240	Hepatomegaly	0	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome	.		115
HP:0002240	HP:0002240	Hepatomegaly	0	IDUA CL E G H	3425	5391	ORPHA:93476	Hurler-Scheie syndrome	HP:0040281 - Very frequent		115
HP:0002240	HP:0002240	Hepatomegaly	0	IDUA CL E G H	3425	5391	ORPHA:93474	Scheie syndrome	HP:0040282 - Frequent		115
HP:0002240	HP:0002240	Hepatomegaly	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome			28
HP:0002240	HP:0002240	Hepatomegaly	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7	HP:0040283 - Occasional		28
HP:0002240	HP:0002240	Hepatomegaly	0	IFNG CL E G H	3458	5438	OMIM:618963	IMMUNODEFICIENCY 69; IMD69			23
HP:0002240	HP:0002240	Hepatomegaly	0	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR			60
HP:0002240	HP:0002240	Hepatomegaly	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.		93
HP:0002240	HP:0002240	Hepatomegaly	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly	HP:0040282 - Frequent		148
HP:0002240	HP:0002240	Hepatomegaly	0	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly	.		48
HP:0002240	HP:0002240	Hepatomegaly	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	.		9
HP:0002240	HP:0002240	Hepatomegaly	0	IKBKG CL E G H	8517	5961	OMIM:301081				52
HP:0002240	HP:0002240	Hepatomegaly	0	IL18BP CL E G H	10068	5987	OMIM:618549	HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH
HP:0002240	HP:0002240	Hepatomegaly	0	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency	.		40
HP:0002240	HP:0002240	Hepatomegaly	0	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41			65
HP:0002240	HP:0002240	Hepatomegaly	0	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			65
HP:0002240	HP:0002240	Hepatomegaly	0	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity	.
HP:0002240	HP:0002240	Hepatomegaly	0	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0002240	HP:0002240	Hepatomegaly	0	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent		48
HP:0002240	HP:0002240	Hepatomegaly	0	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked	.		48
HP:0002240	HP:0002240	Hepatomegaly	0	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency	HP:0040284 - Very rare		48
HP:0002240	HP:0002240	Hepatomegaly	0	IL6 CL E G H	3569	6018	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040283 - Occasional		2
HP:0002240	HP:0002240	Hepatomegaly	0	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0002240	HP:0002240	Hepatomegaly	0	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent		94
HP:0002240	HP:0002240	Hepatomegaly	0	IL7R CL E G H	3575	6024	OMIM:608971	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive	.		94
HP:0002240	HP:0002240	Hepatomegaly	0	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency			94
HP:0002240	HP:0002240	Hepatomegaly	0	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent		111
HP:0002240	HP:0002240	Hepatomegaly	0	INPPL1 CL E G H	3636	6080	ORPHA:2746	Opsismodysplasia	HP:0040283 - Occasional		18
HP:0002240	HP:0002240	Hepatomegaly	0	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism	HP:0040282 - Frequent		229
HP:0002240	HP:0002240	Hepatomegaly	0	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040282 - Frequent		1
HP:0002240	HP:0002240	Hepatomegaly	0	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B			5
HP:0002240	HP:0002240	Hepatomegaly	0	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0002240	HP:0002240	Hepatomegaly	0	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency			3
HP:0002240	HP:0002240	Hepatomegaly	0	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1			51
HP:0002240	HP:0002240	Hepatomegaly	0	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE			12
HP:0002240	HP:0002240	Hepatomegaly	0	JAK2 CL E G H	3717	6192	ORPHA:131	Budd-Chiari syndrome	HP:0040282 - Frequent		57
HP:0002240	HP:0002240	Hepatomegaly	0	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent		57
HP:0002240	HP:0002240	Hepatomegaly	0	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis	HP:0040282 - Frequent		57
HP:0002240	HP:0002240	Hepatomegaly	0	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency			140
HP:0002240	HP:0002240	Hepatomegaly	0	JAM2 CL E G H	58494	14686	ORPHA:1980	Bilateral striopallidodentate calcinosis	HP:0040281 - Very frequent
HP:0002240	HP:0002240	Hepatomegaly	0	JAM3 CL E G H	83700	15532	OMIM:613730	Hemorrhagic destruction of the brain, subependymal calcification,and cataracts	.		4
HP:0002240	HP:0002240	Hepatomegaly	0	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040283 - Occasional		13
HP:0002240	HP:0002240	Hepatomegaly	0	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1	.		13
HP:0002240	HP:0002240	Hepatomegaly	0	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	HP:0040283 - Occasional		127
HP:0002240	HP:0002240	Hepatomegaly	0	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040283 - Occasional		7
HP:0002240	HP:0002240	Hepatomegaly	0	KCNN4 CL E G H	3783	6293	OMIM:616689	Dehydrated hereditary stomatocytosis 2	.		3
HP:0002240	HP:0002240	Hepatomegaly	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	.		730
HP:0002240	HP:0002240	Hepatomegaly	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	.		1
HP:0002240	HP:0002240	Hepatomegaly	0	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8			1
HP:0002240	HP:0002240	Hepatomegaly	0	KIF20A CL E G H	10112	9787	OMIM:619433	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6; RCM6
HP:0002240	HP:0002240	Hepatomegaly	0	KIF20A CL E G H	10112	9787	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional
HP:0002240	HP:0002240	Hepatomegaly	0	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0002240	HP:0002240	Hepatomegaly	0	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional		327
HP:0002240	HP:0002240	Hepatomegaly	0	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV	.		42
HP:0002240	HP:0002240	Hepatomegaly	0	KLF1 CL E G H	10661	6345	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	HP:0040282 - Frequent		42
HP:0002240	HP:0002240	Hepatomegaly	0	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome			13
HP:0002240	HP:0002240	Hepatomegaly	0	KPTN CL E G H	11133	6404	OMIM:615637	Mental retardation, autosomal recessive 41			13
HP:0002240	HP:0002240	Hepatomegaly	0	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma			196
HP:0002240	HP:0002240	Hepatomegaly	0	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		196
HP:0002240	HP:0002240	Hepatomegaly	0	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	.		196
HP:0002240	HP:0002240	Hepatomegaly	0	LACC1 CL E G H	144811	26789	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040283 - Occasional		1
HP:0002240	HP:0002240	Hepatomegaly	0	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0002240	HP:0002240	Hepatomegaly	0	LARS1 CL E G H	51520	6512	OMIM:615438	Infantile liver failure syndrome 1	.
HP:0002240	HP:0002240	Hepatomegaly	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0002240	HP:0002240	Hepatomegaly	0	LBR CL E G H	3930	6518	OMIM:613471	Reynolds syndrome	.		70
HP:0002240	HP:0002240	Hepatomegaly	0	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome	HP:0040281 - Very frequent		70
HP:0002240	HP:0002240	Hepatomegaly	0	LCAT CL E G H	3931	6522	ORPHA:79292	Fish-eye disease	HP:0040283 - Occasional		26
HP:0002240	HP:0002240	Hepatomegaly	0	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome	HP:0040283 - Occasional		88
HP:0002240	HP:0002240	Hepatomegaly	0	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent		88
HP:0002240	HP:0002240	Hepatomegaly	0	LIPA CL E G H	3988	6617	ORPHA:75234	Cholesteryl ester storage disease	HP:0040281 - Very frequent		73
HP:0002240	HP:0002240	Hepatomegaly	0	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency			73
HP:0002240	HP:0002240	Hepatomegaly	0	LIPA CL E G H	3988	6617	ORPHA:75233	Wolman disease	HP:0040281 - Very frequent		73
HP:0002240	HP:0002240	Hepatomegaly	0	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy	HP:0040281 - Very frequent		7
HP:0002240	HP:0002240	Hepatomegaly	0	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type			46
HP:0002240	HP:0002240	Hepatomegaly	0	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040281 - Very frequent		645
HP:0002240	HP:0002240	Hepatomegaly	0	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type	HP:0040281 - Very frequent		645
HP:0002240	HP:0002240	Hepatomegaly	0	LMNA CL E G H	4000	6636	ORPHA:79084	Familial partial lipodystrophy, Köbberling type	HP:0040282 - Frequent		645
HP:0002240	HP:0002240	Hepatomegaly	0	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2	.		645
HP:0002240	HP:0002240	Hepatomegaly	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0002240	HP:0002240	Hepatomegaly	0	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome	HP:0040282 - Frequent		186
HP:0002240	HP:0002240	Hepatomegaly	0	LPIN2 CL E G H	9663	14450	OMIM:609628	MAJEED SYNDROME; MJDS			186
HP:0002240	HP:0002240	Hepatomegaly	0	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia			106
HP:0002240	HP:0002240	Hepatomegaly	0	LRP5 CL E G H	4041	6697	ORPHA:2924	Isolated polycystic liver disease	HP:0040281 - Very frequent		125
HP:0002240	HP:0002240	Hepatomegaly	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0002240	HP:0002240	Hepatomegaly	0	LTBP3 CL E G H	4054	6716	OMIM:617809	Geleophysic dysplasia 3	.		12
HP:0002240	HP:0002240	Hepatomegaly	0	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19			4
HP:0002240	HP:0002240	Hepatomegaly	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome			239
HP:0002240	HP:0002240	Hepatomegaly	0	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome			239
HP:0002240	HP:0002240	Hepatomegaly	0	LYZ CL E G H	4069	6740	OMIM:105200	Amyloidosis, familial visceral	.		32
HP:0002240	HP:0002240	Hepatomegaly	0	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		43
HP:0002240	HP:0002240	Hepatomegaly	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0002240	HP:0002240	Hepatomegaly	0	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0002240	HP:0002240	Hepatomegaly	0	MAGT1 CL E G H	84061	28880	OMIM:301031	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc; CDG1CC			17
HP:0002240	HP:0002240	Hepatomegaly	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.		136
HP:0002240	HP:0002240	Hepatomegaly	0	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form			136
HP:0002240	HP:0002240	Hepatomegaly	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form			136
HP:0002240	HP:0002240	Hepatomegaly	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0002240	HP:0002240	Hepatomegaly	0	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease	.
HP:0002240	HP:0002240	Hepatomegaly	0	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54	.		69
HP:0002240	HP:0002240	Hepatomegaly	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0002240	HP:0002240	Hepatomegaly	0	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR	.		281
HP:0002240	HP:0002240	Hepatomegaly	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0002240	HP:0002240	Hepatomegaly	0	MET CL E G H	4233	7029	ORPHA:33402	Pediatric hepatocellular carcinoma	HP:0040281 - Very frequent		375
HP:0002240	HP:0002240	Hepatomegaly	0	MFN2 CL E G H	9927	16877	ORPHA:2398	Multiple symmetric lipomatosis	HP:0040282 - Frequent		203
HP:0002240	HP:0002240	Hepatomegaly	0	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs			14
HP:0002240	HP:0002240	Hepatomegaly	0	MIF CL E G H	4282	7097	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040283 - Occasional		1
HP:0002240	HP:0002240	Hepatomegaly	0	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type	.		113
HP:0002240	HP:0002240	Hepatomegaly	0	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type	.		127
HP:0002240	HP:0002240	Hepatomegaly	0	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency	.
HP:0002240	HP:0002240	Hepatomegaly	0	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-	HP:0040283 - Occasional
HP:0002240	HP:0002240	Hepatomegaly	0	MMUT CL E G H	4594	7526	ORPHA:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0	HP:0040282 - Frequent
HP:0002240	HP:0002240	Hepatomegaly	0	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB	.		37
HP:0002240	HP:0002240	Hepatomegaly	0	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG	HP:0040283 - Occasional		37
HP:0002240	HP:0002240	Hepatomegaly	0	MPC1 CL E G H	51660	21606	OMIM:614741	Mitochondrial pyruvate carrier deficiency	.		6
HP:0002240	HP:0002240	Hepatomegaly	0	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib	.		51
HP:0002240	HP:0002240	Hepatomegaly	0	MPI CL E G H	4351	7216	ORPHA:79319	MPI-CDG	HP:0040281 - Very frequent		51
HP:0002240	HP:0002240	Hepatomegaly	0	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent		97
HP:0002240	HP:0002240	Hepatomegaly	0	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis	HP:0040282 - Frequent		97
HP:0002240	HP:0002240	Hepatomegaly	0	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy	.		56
HP:0002240	HP:0002240	Hepatomegaly	0	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent
HP:0002240	HP:0002240	Hepatomegaly	0	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9			13
HP:0002240	HP:0002240	Hepatomegaly	0	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0002240	HP:0002240	Hepatomegaly	0	MRPS7 CL E G H	51081	14499	OMIM:617872	Combined oxidative phosphorylation deficiency 34	.		12
HP:0002240	HP:0002240	Hepatomegaly	0	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent		1
HP:0002240	HP:0002240	Hepatomegaly	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040283 - Occasional		81
HP:0002240	HP:0002240	Hepatomegaly	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0002240	HP:0002240	Hepatomegaly	0	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome			150
HP:0002240	HP:0002240	Hepatomegaly	0	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever	HP:0040281 - Very frequent		150
HP:0002240	HP:0002240	Hepatomegaly	0	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0002240	HP:0002240	Hepatomegaly	0	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4	.		1143
HP:0002240	HP:0002240	Hepatomegaly	0	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia	HP:0040283 - Occasional		9
HP:0002240	HP:0002240	Hepatomegaly	0	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12			131
HP:0002240	HP:0002240	Hepatomegaly	0	MYO5B CL E G H	4645	7603	OMIM:619868				192
HP:0002240	HP:0002240	Hepatomegaly	0	MYORG CL E G H	57462	19918	ORPHA:1980	Bilateral striopallidodentate calcinosis	HP:0040281 - Very frequent
HP:0002240	HP:0002240	Hepatomegaly	0	MYPN CL E G H	84665	23246	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional		217
HP:0002240	HP:0002240	Hepatomegaly	0	NAGA CL E G H	4668	7631	ORPHA:79279	Alpha-N-acetylgalactosaminidase deficiency type 1	HP:0040283 - Occasional		47
HP:0002240	HP:0002240	Hepatomegaly	0	NAGA CL E G H	4668	7631	ORPHA:79281	Alpha-N-acetylgalactosaminidase deficiency type 3	HP:0040282 - Frequent		47
HP:0002240	HP:0002240	Hepatomegaly	0	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB	.		72
HP:0002240	HP:0002240	Hepatomegaly	0	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency	HP:0040284 - Very rare		36
HP:0002240	HP:0002240	Hepatomegaly	0	NCF1 CL E G H	653361	7660	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent		13
HP:0002240	HP:0002240	Hepatomegaly	0	NCF1 CL E G H	653361	7660	OMIM:233700	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I	.		13
HP:0002240	HP:0002240	Hepatomegaly	0	NCF2 CL E G H	4688	7661	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent		67
HP:0002240	HP:0002240	Hepatomegaly	0	NCF2 CL E G H	4688	7661	OMIM:233710	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II	.		67
HP:0002240	HP:0002240	Hepatomegaly	0	NCF4 CL E G H	4689	7662	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent		37
HP:0002240	HP:0002240	Hepatomegaly	0	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0002240	HP:0002240	Hepatomegaly	0	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0002240	HP:0002240	Hepatomegaly	0	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002240	HP:0002240	Hepatomegaly	0	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0002240	HP:0002240	Hepatomegaly	0	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002240	HP:0002240	Hepatomegaly	0	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0002240	HP:0002240	Hepatomegaly	0	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002240	HP:0002240	Hepatomegaly	0	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002240	HP:0002240	Hepatomegaly	0	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002240	HP:0002240	Hepatomegaly	0	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002240	HP:0002240	Hepatomegaly	0	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		7
HP:0002240	HP:0002240	Hepatomegaly	0	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		32
HP:0002240	HP:0002240	Hepatomegaly	0	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		1
HP:0002240	HP:0002240	Hepatomegaly	0	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		40
HP:0002240	HP:0002240	Hepatomegaly	0	NDUFAF1 CL E G H	51103	18828	OMIM:618234	Mitochondrial complex I deficiency, nuclear type 11	.		40
HP:0002240	HP:0002240	Hepatomegaly	0	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		26
HP:0002240	HP:0002240	Hepatomegaly	0	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		31
HP:0002240	HP:0002240	Hepatomegaly	0	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		50
HP:0002240	HP:0002240	Hepatomegaly	0	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		34
HP:0002240	HP:0002240	Hepatomegaly	0	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0002240	HP:0002240	Hepatomegaly	0	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0002240	HP:0002240	Hepatomegaly	0	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		3
HP:0002240	HP:0002240	Hepatomegaly	0	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		9
HP:0002240	HP:0002240	Hepatomegaly	0	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		16
HP:0002240	HP:0002240	Hepatomegaly	0	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		81
HP:0002240	HP:0002240	Hepatomegaly	0	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		65
HP:0002240	HP:0002240	Hepatomegaly	0	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		22
HP:0002240	HP:0002240	Hepatomegaly	0	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		27
HP:0002240	HP:0002240	Hepatomegaly	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0002240	HP:0002240	Hepatomegaly	0	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		21
HP:0002240	HP:0002240	Hepatomegaly	0	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		38
HP:0002240	HP:0002240	Hepatomegaly	0	NDUFS7 CL E G H	374291	7714	OMIM:618224	Mitochondrial complex I deficiency, nuclear type 3	.		38
HP:0002240	HP:0002240	Hepatomegaly	0	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		42
HP:0002240	HP:0002240	Hepatomegaly	0	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		74
HP:0002240	HP:0002240	Hepatomegaly	0	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		27
HP:0002240	HP:0002240	Hepatomegaly	0	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2	.		43
HP:0002240	HP:0002240	Hepatomegaly	0	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2	HP:0040284 - Very rare		43
HP:0002240	HP:0002240	Hepatomegaly	0	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2	HP:0040283 - Occasional		43
HP:0002240	HP:0002240	Hepatomegaly	0	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency	.		43
HP:0002240	HP:0002240	Hepatomegaly	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional		32
HP:0002240	HP:0002240	Hepatomegaly	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0002240	HP:0002240	Hepatomegaly	0	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis	.
HP:0002240	HP:0002240	Hepatomegaly	0	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		27
HP:0002240	HP:0002240	Hepatomegaly	0	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK			37
HP:0002240	HP:0002240	Hepatomegaly	0	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome	HP:0040282 - Frequent		217
HP:0002240	HP:0002240	Hepatomegaly	0	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA			217
HP:0002240	HP:0002240	Hepatomegaly	0	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome	HP:0040281 - Very frequent		217
HP:0002240	HP:0002240	Hepatomegaly	0	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		17
HP:0002240	HP:0002240	Hepatomegaly	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional		138
HP:0002240	HP:0002240	Hepatomegaly	0	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1			258
HP:0002240	HP:0002240	Hepatomegaly	0	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2	.		33
HP:0002240	HP:0002240	Hepatomegaly	0	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7			157
HP:0002240	HP:0002240	Hepatomegaly	0	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia	.		157
HP:0002240	HP:0002240	Hepatomegaly	0	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		12
HP:0002240	HP:0002240	Hepatomegaly	0	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		102
HP:0002240	HP:0002240	Hepatomegaly	0	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	.		102
HP:0002240	HP:0002240	Hepatomegaly	0	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST			118
HP:0002240	HP:0002240	Hepatomegaly	0	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		89
HP:0002240	HP:0002240	Hepatomegaly	0	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria	.		23
HP:0002240	HP:0002240	Hepatomegaly	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5	.		73
HP:0002240	HP:0002240	Hepatomegaly	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0002240	HP:0002240	Hepatomegaly	0	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma			1349
HP:0002240	HP:0002240	Hepatomegaly	0	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma			192
HP:0002240	HP:0002240	Hepatomegaly	0	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		26
HP:0002240	HP:0002240	Hepatomegaly	0	PC CL E G H	5091	8636	OMIM:266150	Pyruvate carboxylase deficiency	.		118
HP:0002240	HP:0002240	Hepatomegaly	0	PCCA CL E G H	5095	8653	ORPHA:35	Propionic acidemia	HP:0040282 - Frequent		96
HP:0002240	HP:0002240	Hepatomegaly	0	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia	.		96
HP:0002240	HP:0002240	Hepatomegaly	0	PCCB CL E G H	5096	8654	ORPHA:35	Propionic acidemia	HP:0040282 - Frequent		92
HP:0002240	HP:0002240	Hepatomegaly	0	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia	.		92
HP:0002240	HP:0002240	Hepatomegaly	0	PCK1 CL E G H	5105	8724	OMIM:261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	.		53
HP:0002240	HP:0002240	Hepatomegaly	0	PDGFB CL E G H	5155	8800	ORPHA:1980	Bilateral striopallidodentate calcinosis	HP:0040281 - Very frequent		9
HP:0002240	HP:0002240	Hepatomegaly	0	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic	.		337
HP:0002240	HP:0002240	Hepatomegaly	0	PDGFRB CL E G H	5159	8804	ORPHA:1980	Bilateral striopallidodentate calcinosis	HP:0040281 - Very frequent		28
HP:0002240	HP:0002240	Hepatomegaly	0	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency	HP:0040283 - Occasional		66
HP:0002240	HP:0002240	Hepatomegaly	0	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency			66
HP:0002240	HP:0002240	Hepatomegaly	0	PEX1 CL E G H	5189	8850	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		169
HP:0002240	HP:0002240	Hepatomegaly	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.		169
HP:0002240	HP:0002240	Hepatomegaly	0	PEX1 CL E G H	5189	8850	OMIM:601539	Peroxisome biogenesis disorder 1B	.		169
HP:0002240	HP:0002240	Hepatomegaly	0	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		169
HP:0002240	HP:0002240	Hepatomegaly	0	PEX10 CL E G H	5192	8851	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		75
HP:0002240	HP:0002240	Hepatomegaly	0	PEX10 CL E G H	5192	8851	OMIM:614870	Peroxisome biogenesis disorder 6A (Zellweger)	.		75
HP:0002240	HP:0002240	Hepatomegaly	0	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		75
HP:0002240	HP:0002240	Hepatomegaly	0	PEX11B CL E G H	8799	8853	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		4
HP:0002240	HP:0002240	Hepatomegaly	0	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		4
HP:0002240	HP:0002240	Hepatomegaly	0	PEX12 CL E G H	5193	8854	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		65
HP:0002240	HP:0002240	Hepatomegaly	0	PEX12 CL E G H	5193	8854	OMIM:614859	Peroxisome biogenesis disorder 3A (Zellweger)	.		65
HP:0002240	HP:0002240	Hepatomegaly	0	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B	.		65
HP:0002240	HP:0002240	Hepatomegaly	0	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		65
HP:0002240	HP:0002240	Hepatomegaly	0	PEX13 CL E G H	5194	8855	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		66
HP:0002240	HP:0002240	Hepatomegaly	0	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		66
HP:0002240	HP:0002240	Hepatomegaly	0	PEX14 CL E G H	5195	8856	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		46
HP:0002240	HP:0002240	Hepatomegaly	0	PEX14 CL E G H	5195	8856	OMIM:614887	Peroxisome biogenesis disorder 13A (Zellweger)	.		46
HP:0002240	HP:0002240	Hepatomegaly	0	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		46
HP:0002240	HP:0002240	Hepatomegaly	0	PEX16 CL E G H	9409	8857	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		59
HP:0002240	HP:0002240	Hepatomegaly	0	PEX16 CL E G H	9409	8857	OMIM:614876	Peroxisome biogenesis disorder 8A (Zellweger)	.		59
HP:0002240	HP:0002240	Hepatomegaly	0	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		59
HP:0002240	HP:0002240	Hepatomegaly	0	PEX19 CL E G H	5824	9713	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		62
HP:0002240	HP:0002240	Hepatomegaly	0	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		62
HP:0002240	HP:0002240	Hepatomegaly	0	PEX2 CL E G H	5828	9717	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		82
HP:0002240	HP:0002240	Hepatomegaly	0	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)	.		82
HP:0002240	HP:0002240	Hepatomegaly	0	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		82
HP:0002240	HP:0002240	Hepatomegaly	0	PEX26 CL E G H	55670	22965	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		106
HP:0002240	HP:0002240	Hepatomegaly	0	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)	.		106
HP:0002240	HP:0002240	Hepatomegaly	0	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		106
HP:0002240	HP:0002240	Hepatomegaly	0	PEX3 CL E G H	8504	8858	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		47
HP:0002240	HP:0002240	Hepatomegaly	0	PEX3 CL E G H	8504	8858	OMIM:614882	Peroxisome biogenesis disorder 10A (Zellweger)	.		47
HP:0002240	HP:0002240	Hepatomegaly	0	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		47
HP:0002240	HP:0002240	Hepatomegaly	0	PEX5 CL E G H	5830	9719	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		99
HP:0002240	HP:0002240	Hepatomegaly	0	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)	.		99
HP:0002240	HP:0002240	Hepatomegaly	0	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		99
HP:0002240	HP:0002240	Hepatomegaly	0	PEX6 CL E G H	5190	8859	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		98
HP:0002240	HP:0002240	Hepatomegaly	0	PEX6 CL E G H	5190	8859	OMIM:614862	Peroxisome biogenesis disorder 4A (Zellweger)	.		98
HP:0002240	HP:0002240	Hepatomegaly	0	PEX6 CL E G H	5190	8859	OMIM:614863	Peroxisome biogenesis disorder 4B	.		98
HP:0002240	HP:0002240	Hepatomegaly	0	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		98
HP:0002240	HP:0002240	Hepatomegaly	0	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0002240	HP:0002240	Hepatomegaly	0	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040281 - Very frequent		54
HP:0002240	HP:0002240	Hepatomegaly	0	PHKA2 CL E G H	5256	8926	OMIM:306000	Glycogen storage disease ixa	.		54
HP:0002240	HP:0002240	Hepatomegaly	0	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0002240	HP:0002240	Hepatomegaly	0	PHKB CL E G H	5257	8927	OMIM:261750	Glycogen storage disease ixb	.		101
HP:0002240	HP:0002240	Hepatomegaly	0	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040281 - Very frequent		48
HP:0002240	HP:0002240	Hepatomegaly	0	PHKG2 CL E G H	5261	8931	OMIM:613027	Glycogen storage disease IXc			48
HP:0002240	HP:0002240	Hepatomegaly	0	PIEZO1 CL E G H	9780	28993	OMIM:194380	Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema	HP:0040283 - Occasional		36
HP:0002240	HP:0002240	Hepatomegaly	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	HP:0040283 - Occasional		46
HP:0002240	HP:0002240	Hepatomegaly	0	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0002240	HP:0002240	Hepatomegaly	0	PIGM CL E G H	93183	18858	OMIM:610293	Glycosylphosphatidylinositol deficiency	.		6
HP:0002240	HP:0002240	Hepatomegaly	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0002240	HP:0002240	Hepatomegaly	0	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome	.
HP:0002240	HP:0002240	Hepatomegaly	0	PKD2 CL E G H	5311	9009	OMIM:613095	Polycystic kidney disease 2			106
HP:0002240	HP:0002240	Hepatomegaly	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease			563
HP:0002240	HP:0002240	Hepatomegaly	0	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease	HP:0040283 - Occasional		563
HP:0002240	HP:0002240	Hepatomegaly	0	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease	.		563
HP:0002240	HP:0002240	Hepatomegaly	0	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells			51
HP:0002240	HP:0002240	Hepatomegaly	0	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0002240	HP:0002240	Hepatomegaly	0	PLEKHM1 CL E G H	9842	29017	ORPHA:210110	Intermediate osteopetrosis			2
HP:0002240	HP:0002240	Hepatomegaly	0	PLEKHM1 CL E G H	9842	29017	OMIM:618107	OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA3			2
HP:0002240	HP:0002240	Hepatomegaly	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.		150
HP:0002240	HP:0002240	Hepatomegaly	0	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy	.		65
HP:0002240	HP:0002240	Hepatomegaly	0	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy	HP:0040283 - Occasional		65
HP:0002240	HP:0002240	Hepatomegaly	0	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy	HP:0040282 - Frequent		65
HP:0002240	HP:0002240	Hepatomegaly	0	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	.		731
HP:0002240	HP:0002240	Hepatomegaly	0	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)	.		464
HP:0002240	HP:0002240	Hepatomegaly	0	POLG2 CL E G H	11232	9180	OMIM:618528	Mitochondrial DNA depletion syndrome 16 (hepatic type)	.		45
HP:0002240	HP:0002240	Hepatomegaly	0	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy	HP:0040281 - Very frequent		42
HP:0002240	HP:0002240	Hepatomegaly	0	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040281 - Very frequent		42
HP:0002240	HP:0002240	Hepatomegaly	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0002240	HP:0002240	Hepatomegaly	0	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent		58
HP:0002240	HP:0002240	Hepatomegaly	0	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2			58
HP:0002240	HP:0002240	Hepatomegaly	0	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent		10
HP:0002240	HP:0002240	Hepatomegaly	0	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3			10
HP:0002240	HP:0002240	Hepatomegaly	0	PRKCSH CL E G H	5589	9411	ORPHA:2924	Isolated polycystic liver disease	HP:0040281 - Very frequent		63
HP:0002240	HP:0002240	Hepatomegaly	0	PSAP CL E G H	5660	9498	OMIM:611721	Combined saposin deficiency	.		81
HP:0002240	HP:0002240	Hepatomegaly	0	PSAP CL E G H	5660	9498	ORPHA:139406	Encephalopathy due to prosaposin deficiency	HP:0040281 - Very frequent		81
HP:0002240	HP:0002240	Hepatomegaly	0	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical			81
HP:0002240	HP:0002240	Hepatomegaly	0	PSMB10 CL E G H	5699	9538	OMIM:619175	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5; PRAAS5
HP:0002240	HP:0002240	Hepatomegaly	0	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0002240	HP:0002240	Hepatomegaly	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0002240	HP:0002240	Hepatomegaly	0	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0002240	HP:0002240	Hepatomegaly	0	PSMG2 CL E G H	56984	24929	OMIM:619183	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0002240	HP:0002240	Hepatomegaly	0	PSTPIP1 CL E G H	9051	9580	OMIM:604416	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne			96
HP:0002240	HP:0002240	Hepatomegaly	0	PTEN CL E G H	5728	9588	OMIM:605309	Macrocephaly/autism syndrome	HP:0040284 - Very rare		948
HP:0002240	HP:0002240	Hepatomegaly	0	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		291
HP:0002240	HP:0002240	Hepatomegaly	0	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0002240	HP:0002240	Hepatomegaly	0	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			3
HP:0002240	HP:0002240	Hepatomegaly	0	PTPRC CL E G H	5788	9666	OMIM:619924				25
HP:0002240	HP:0002240	Hepatomegaly	0	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease	HP:0040283 - Occasional		6
HP:0002240	HP:0002240	Hepatomegaly	0	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	.		6
HP:0002240	HP:0002240	Hepatomegaly	0	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0002240	HP:0002240	Hepatomegaly	0	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency	HP:0040281 - Very frequent		71
HP:0002240	HP:0002240	Hepatomegaly	0	PYGL CL E G H	5836	9725	OMIM:232700	Glycogen storage disease VI			71
HP:0002240	HP:0002240	Hepatomegaly	0	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2	HP:0040281 - Very frequent		67
HP:0002240	HP:0002240	Hepatomegaly	0	RAB27A CL E G H	5873	9766	OMIM:607624	Griscelli syndrome, type 2			67
HP:0002240	HP:0002240	Hepatomegaly	0	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma
HP:0002240	HP:0002240	Hepatomegaly	0	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B			9
HP:0002240	HP:0002240	Hepatomegaly	0	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		212
HP:0002240	HP:0002240	Hepatomegaly	0	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome	.		127
HP:0002240	HP:0002240	Hepatomegaly	0	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent		127
HP:0002240	HP:0002240	Hepatomegaly	0	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040283 - Occasional		127
HP:0002240	HP:0002240	Hepatomegaly	0	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome	.		50
HP:0002240	HP:0002240	Hepatomegaly	0	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent		50
HP:0002240	HP:0002240	Hepatomegaly	0	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040283 - Occasional		50
HP:0002240	HP:0002240	Hepatomegaly	0	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		3
HP:0002240	HP:0002240	Hepatomegaly	0	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent
HP:0002240	HP:0002240	Hepatomegaly	0	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0002240	HP:0002240	Hepatomegaly	0	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency	HP:0040283 - Occasional		10
HP:0002240	HP:0002240	Hepatomegaly	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0002240	HP:0002240	Hepatomegaly	0	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92			1
HP:0002240	HP:0002240	Hepatomegaly	0	RFT1 CL E G H	91869	30220	OMIM:612015	Congenital disorder of glycosylation, type IN	.		92
HP:0002240	HP:0002240	Hepatomegaly	0	RFT1 CL E G H	91869	30220	ORPHA:244310	RFT1-CDG	HP:0040282 - Frequent		92
HP:0002240	HP:0002240	Hepatomegaly	0	RHAG CL E G H	6005	10006	OMIM:185000	Overhydrated hereditary stomatocytosis	.		13
HP:0002240	HP:0002240	Hepatomegaly	0	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome			13
HP:0002240	HP:0002240	Hepatomegaly	0	RHBDF2 CL E G H	79651	20788	ORPHA:2198	Palmoplantar keratoderma-esophageal carcinoma syndrome	HP:0040282 - Frequent		80
HP:0002240	HP:0002240	Hepatomegaly	0	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome			8
HP:0002240	HP:0002240	Hepatomegaly	0	RHD CL E G H	6007	10009	OMIM:619462	Hemolytic disease of fetus and newborn, RH-induced			16
HP:0002240	HP:0002240	Hepatomegaly	0	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome			16
HP:0002240	HP:0002240	Hepatomegaly	0	RINT1 CL E G H	60561	21876	OMIM:618641	INFANTILE LIVER FAILURE SYNDROME 3; ILFS3			99
HP:0002240	HP:0002240	Hepatomegaly	0	RIPK1 CL E G H	8737	10019	OMIM:618852	AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL
HP:0002240	HP:0002240	Hepatomegaly	0	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		39
HP:0002240	HP:0002240	Hepatomegaly	0	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11	HP:0040283 - Occasional		26
HP:0002240	HP:0002240	Hepatomegaly	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040283 - Occasional		37
HP:0002240	HP:0002240	Hepatomegaly	0	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent		37
HP:0002240	HP:0002240	Hepatomegaly	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome			33
HP:0002240	HP:0002240	Hepatomegaly	0	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4	.		33
HP:0002240	HP:0002240	Hepatomegaly	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome			34
HP:0002240	HP:0002240	Hepatomegaly	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome			60
HP:0002240	HP:0002240	Hepatomegaly	0	RNASEH2C CL E G H	84153	24116	OMIM:610329	Aicardi-Goutieres syndrome 3			60
HP:0002240	HP:0002240	Hepatomegaly	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome			15
HP:0002240	HP:0002240	Hepatomegaly	0	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome			15
HP:0002240	HP:0002240	Hepatomegaly	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0002240	HP:0002240	Hepatomegaly	0	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0002240	HP:0002240	Hepatomegaly	0	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent		167
HP:0002240	HP:0002240	Hepatomegaly	0	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent
HP:0002240	HP:0002240	Hepatomegaly	0	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		1
HP:0002240	HP:0002240	Hepatomegaly	0	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		77
HP:0002240	HP:0002240	Hepatomegaly	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0002240	HP:0002240	Hepatomegaly	0	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis			181
HP:0002240	HP:0002240	Hepatomegaly	0	SAA1 CL E G H	6288	10513	ORPHA:85445	AA amyloidosis	HP:0040282 - Frequent		2
HP:0002240	HP:0002240	Hepatomegaly	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome			55
HP:0002240	HP:0002240	Hepatomegaly	0	SASH3 CL E G H	54440	15975	OMIM:301082				1
HP:0002240	HP:0002240	Hepatomegaly	0	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040284 - Very rare		26
HP:0002240	HP:0002240	Hepatomegaly	0	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1	.		26
HP:0002240	HP:0002240	Hepatomegaly	0	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis	HP:0040282 - Frequent		80
HP:0002240	HP:0002240	Hepatomegaly	0	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS			80
HP:0002240	HP:0002240	Hepatomegaly	0	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1	HP:0040281 - Very frequent		77
HP:0002240	HP:0002240	Hepatomegaly	0	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4			46
HP:0002240	HP:0002240	Hepatomegaly	0	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1			40
HP:0002240	HP:0002240	Hepatomegaly	0	SCYL1 CL E G H	57410	14372	ORPHA:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome			5
HP:0002240	HP:0002240	Hepatomegaly	0	SCYL1 CL E G H	57410	14372	OMIM:616719	Spinocerebellar ataxia, autosomal recessive 21	.		5
HP:0002240	HP:0002240	Hepatomegaly	0	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3			129
HP:0002240	HP:0002240	Hepatomegaly	0	SEC63 CL E G H	11231	21082	ORPHA:2924	Isolated polycystic liver disease	HP:0040281 - Very frequent		137
HP:0002240	HP:0002240	Hepatomegaly	0	SEC63 CL E G H	11231	21082	OMIM:617004	Polycystic liver disease 2	.		137
HP:0002240	HP:0002240	Hepatomegaly	0	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent
HP:0002240	HP:0002240	Hepatomegaly	0	SERPINA1 CL E G H	5265	8941	ORPHA:60	Alpha-1-antitrypsin deficiency	HP:0040282 - Frequent		131
HP:0002240	HP:0002240	Hepatomegaly	0	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040283 - Occasional		19
HP:0002240	HP:0002240	Hepatomegaly	0	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA	.		97
HP:0002240	HP:0002240	Hepatomegaly	0	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1			37
HP:0002240	HP:0002240	Hepatomegaly	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0002240	HP:0002240	Hepatomegaly	0	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2	.
HP:0002240	HP:0002240	Hepatomegaly	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0002240	HP:0002240	Hepatomegaly	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0002240	HP:0002240	Hepatomegaly	0	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease	.		78
HP:0002240	HP:0002240	Hepatomegaly	0	SLC20A2 CL E G H	6575	10947	ORPHA:1980	Bilateral striopallidodentate calcinosis	HP:0040281 - Very frequent		70
HP:0002240	HP:0002240	Hepatomegaly	0	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary	.		207
HP:0002240	HP:0002240	Hepatomegaly	0	SLC22A5 CL E G H	6584	10969	ORPHA:158	Systemic primary carnitine deficiency	HP:0040281 - Very frequent		207
HP:0002240	HP:0002240	Hepatomegaly	0	SLC25A1 CL E G H	6576	10979	OMIM:615182	Combined d-2- and l-2-hydroxyglutaric aciduria	HP:0040283 - Occasional		28
HP:0002240	HP:0002240	Hepatomegaly	0	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040282 - Frequent		82
HP:0002240	HP:0002240	Hepatomegaly	0	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040282 - Frequent		82
HP:0002240	HP:0002240	Hepatomegaly	0	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome	.		88
HP:0002240	HP:0002240	Hepatomegaly	0	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	HP:0040282 - Frequent		88
HP:0002240	HP:0002240	Hepatomegaly	0	SLC25A19 CL E G H	60386	14409	ORPHA:99742	Amish lethal microcephaly	HP:0040283 - Occasional		36
HP:0002240	HP:0002240	Hepatomegaly	0	SLC25A19 CL E G H	60386	14409	OMIM:607196	Microcephaly, Amish type	.		36
HP:0002240	HP:0002240	Hepatomegaly	0	SLC25A20 CL E G H	788	1421	OMIM:212138	Carnitine-acylcarnitine translocase deficiency			40
HP:0002240	HP:0002240	Hepatomegaly	0	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency	HP:0040281 - Very frequent		40
HP:0002240	HP:0002240	Hepatomegaly	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome			68
HP:0002240	HP:0002240	Hepatomegaly	0	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0002240	HP:0002240	Hepatomegaly	0	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin			255
HP:0002240	HP:0002240	Hepatomegaly	0	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects	.		255
HP:0002240	HP:0002240	Hepatomegaly	0	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome	HP:0040282 - Frequent		71
HP:0002240	HP:0002240	Hepatomegaly	0	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	HP:0040282 - Frequent		42
HP:0002240	HP:0002240	Hepatomegaly	0	SLC30A10 CL E G H	55532	25355	OMIM:613280	Hypermanganesemia with dystonia 1			42
HP:0002240	HP:0002240	Hepatomegaly	0	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis	HP:0040283 - Occasional		7
HP:0002240	HP:0002240	Hepatomegaly	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional		71
HP:0002240	HP:0002240	Hepatomegaly	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0002240	HP:0002240	Hepatomegaly	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040281 - Very frequent		110
HP:0002240	HP:0002240	Hepatomegaly	0	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib	.		110
HP:0002240	HP:0002240	Hepatomegaly	0	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic	.		110
HP:0002240	HP:0002240	Hepatomegaly	0	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0002240	HP:0002240	Hepatomegaly	0	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type	.		55
HP:0002240	HP:0002240	Hepatomegaly	0	SLC40A1 CL E G H	30061	10909	OMIM:606069	Hemochromatosis, type 4			56
HP:0002240	HP:0002240	Hepatomegaly	0	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent		109
HP:0002240	HP:0002240	Hepatomegaly	0	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia			109
HP:0002240	HP:0002240	Hepatomegaly	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent		104
HP:0002240	HP:0002240	Hepatomegaly	0	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance	.		104
HP:0002240	HP:0002240	Hepatomegaly	0	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis	HP:0040283 - Occasional		13
HP:0002240	HP:0002240	Hepatomegaly	0	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma			504
HP:0002240	HP:0002240	Hepatomegaly	0	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040282 - Frequent		164
HP:0002240	HP:0002240	Hepatomegaly	0	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A			164
HP:0002240	HP:0002240	Hepatomegaly	0	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B	.		164
HP:0002240	HP:0002240	Hepatomegaly	0	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		2
HP:0002240	HP:0002240	Hepatomegaly	0	SNX10 CL E G H	29887	14974	OMIM:615085	Osteopetrosis, autosomal recessive 8	.		2
HP:0002240	HP:0002240	Hepatomegaly	0	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome			14
HP:0002240	HP:0002240	Hepatomegaly	0	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20			14
HP:0002240	HP:0002240	Hepatomegaly	0	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD			6
HP:0002240	HP:0002240	Hepatomegaly	0	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		315
HP:0002240	HP:0002240	Hepatomegaly	0	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		30
HP:0002240	HP:0002240	Hepatomegaly	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0002240	HP:0002240	Hepatomegaly	0	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease	HP:0040283 - Occasional		61
HP:0002240	HP:0002240	Hepatomegaly	0	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	HP:0040282 - Frequent		49
HP:0002240	HP:0002240	Hepatomegaly	0	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent
HP:0002240	HP:0002240	Hepatomegaly	0	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent		228
HP:0002240	HP:0002240	Hepatomegaly	0	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent		156
HP:0002240	HP:0002240	Hepatomegaly	0	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040284 - Very rare
HP:0002240	HP:0002240	Hepatomegaly	0	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1	.
HP:0002240	HP:0002240	Hepatomegaly	0	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis			1
HP:0002240	HP:0002240	Hepatomegaly	0	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional		1
HP:0002240	HP:0002240	Hepatomegaly	0	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome			89
HP:0002240	HP:0002240	Hepatomegaly	0	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C			89
HP:0002240	HP:0002240	Hepatomegaly	0	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1			110
HP:0002240	HP:0002240	Hepatomegaly	0	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			2
HP:0002240	HP:0002240	Hepatomegaly	0	STEAP3 CL E G H	55240	24592	OMIM:615234	Anemia, hypochromic microcytic, with iron overload 2	.		1
HP:0002240	HP:0002240	Hepatomegaly	0	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts			1
HP:0002240	HP:0002240	Hepatomegaly	0	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent		85
HP:0002240	HP:0002240	Hepatomegaly	0	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4			85
HP:0002240	HP:0002240	Hepatomegaly	0	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent		70
HP:0002240	HP:0002240	Hepatomegaly	0	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5			70
HP:0002240	HP:0002240	Hepatomegaly	0	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040282 - Frequent		60
HP:0002240	HP:0002240	Hepatomegaly	0	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency	.		80
HP:0002240	HP:0002240	Hepatomegaly	0	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency	HP:0040281 - Very frequent		80
HP:0002240	HP:0002240	Hepatomegaly	0	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency	.		73
HP:0002240	HP:0002240	Hepatomegaly	0	TALDO1 CL E G H	6888	11559	ORPHA:101028	Transaldolase deficiency			34
HP:0002240	HP:0002240	Hepatomegaly	0	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency	.		34
HP:0002240	HP:0002240	Hepatomegaly	0	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent		241
HP:0002240	HP:0002240	Hepatomegaly	0	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		82
HP:0002240	HP:0002240	Hepatomegaly	0	TCIRG1 CL E G H	10312	11647	ORPHA:210110	Intermediate osteopetrosis			82
HP:0002240	HP:0002240	Hepatomegaly	0	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1			82
HP:0002240	HP:0002240	Hepatomegaly	0	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		48
HP:0002240	HP:0002240	Hepatomegaly	0	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		238
HP:0002240	HP:0002240	Hepatomegaly	0	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040283 - Occasional		3
HP:0002240	HP:0002240	Hepatomegaly	0	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis			3
HP:0002240	HP:0002240	Hepatomegaly	0	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75			3
HP:0002240	HP:0002240	Hepatomegaly	0	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent		3
HP:0002240	HP:0002240	Hepatomegaly	0	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis	HP:0040282 - Frequent		3
HP:0002240	HP:0002240	Hepatomegaly	0	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional		3
HP:0002240	HP:0002240	Hepatomegaly	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0002240	HP:0002240	Hepatomegaly	0	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease	HP:0040283 - Occasional		13
HP:0002240	HP:0002240	Hepatomegaly	0	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis			13
HP:0002240	HP:0002240	Hepatomegaly	0	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		1
HP:0002240	HP:0002240	Hepatomegaly	0	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		60
HP:0002240	HP:0002240	Hepatomegaly	0	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0002240	HP:0002240	Hepatomegaly	0	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency	HP:0040283 - Occasional		4
HP:0002240	HP:0002240	Hepatomegaly	0	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0002240	HP:0002240	Hepatomegaly	0	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		4
HP:0002240	HP:0002240	Hepatomegaly	0	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK	.		24
HP:0002240	HP:0002240	Hepatomegaly	0	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1			166
HP:0002240	HP:0002240	Hepatomegaly	0	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent		166
HP:0002240	HP:0002240	Hepatomegaly	0	TMEM67 CL E G H	91147	28396	OMIM:607361	Meckel syndrome 3			166
HP:0002240	HP:0002240	Hepatomegaly	0	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome			166
HP:0002240	HP:0002240	Hepatomegaly	0	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy	HP:0040282 - Frequent		63
HP:0002240	HP:0002240	Hepatomegaly	0	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7			72
HP:0002240	HP:0002240	Hepatomegaly	0	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2	.		32
HP:0002240	HP:0002240	Hepatomegaly	0	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2	.		12
HP:0002240	HP:0002240	Hepatomegaly	0	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant			131
HP:0002240	HP:0002240	Hepatomegaly	0	TNFRSF1B CL E G H	7133	11917	ORPHA:2584	Classic mycosis fungoides	HP:0040283 - Occasional
HP:0002240	HP:0002240	Hepatomegaly	0	TNFRSF1B CL E G H	7133	11917	ORPHA:3162	Sézary syndrome	HP:0040282 - Frequent
HP:0002240	HP:0002240	Hepatomegaly	0	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		44
HP:0002240	HP:0002240	Hepatomegaly	0	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2			44
HP:0002240	HP:0002240	Hepatomegaly	0	TNNI3 CL E G H	7137	11947	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional		180
HP:0002240	HP:0002240	Hepatomegaly	0	TNNT2 CL E G H	7139	11949	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional		248
HP:0002240	HP:0002240	Hepatomegaly	0	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0002240	HP:0002240	Hepatomegaly	0	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0002240	HP:0002240	Hepatomegaly	0	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma			911
HP:0002240	HP:0002240	Hepatomegaly	0	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18	HP:0040283 - Occasional		27
HP:0002240	HP:0002240	Hepatomegaly	0	TRAPPC11 CL E G H	60684	25751	ORPHA:369840	TRAPPC11-related limb-girdle muscular dystrophy R18	HP:0040282 - Frequent		27
HP:0002240	HP:0002240	Hepatomegaly	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome			56
HP:0002240	HP:0002240	Hepatomegaly	0	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0002240	HP:0002240	Hepatomegaly	0	TRIM37 CL E G H	4591	7523	ORPHA:2576	Mulibrey nanism	HP:0040282 - Frequent		78
HP:0002240	HP:0002240	Hepatomegaly	0	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism			78
HP:0002240	HP:0002240	Hepatomegaly	0	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient	.		101
HP:0002240	HP:0002240	Hepatomegaly	0	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040283 - Occasional		101
HP:0002240	HP:0002240	Hepatomegaly	0	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040283 - Occasional
HP:0002240	HP:0002240	Hepatomegaly	0	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002240	HP:0002240	Hepatomegaly	0	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002240	HP:0002240	Hepatomegaly	0	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0002240	HP:0002240	Hepatomegaly	0	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0002240	HP:0002240	Hepatomegaly	0	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002240	HP:0002240	Hepatomegaly	0	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002240	HP:0002240	Hepatomegaly	0	TRPV6 CL E G H	55503	14006	ORPHA:417	Neonatal severe primary hyperparathyroidism	HP:0040281 - Very frequent		4
HP:0002240	HP:0002240	Hepatomegaly	0	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3	.		43
HP:0002240	HP:0002240	Hepatomegaly	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0002240	HP:0002240	Hepatomegaly	0	TUFM CL E G H	7284	12420	OMIM:610678	Combined oxidative phosphorylation deficiency 4			55
HP:0002240	HP:0002240	Hepatomegaly	0	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0002240	HP:0002240	Hepatomegaly	0	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		1
HP:0002240	HP:0002240	Hepatomegaly	0	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency	HP:0040283 - Occasional		15
HP:0002240	HP:0002240	Hepatomegaly	0	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent		116
HP:0002240	HP:0002240	Hepatomegaly	0	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3			116
HP:0002240	HP:0002240	Hepatomegaly	0	UQCRB CL E G H	7381	12582	OMIM:615158	Mitochondrial complex III deficiency, nuclear type 3	.		13
HP:0002240	HP:0002240	Hepatomegaly	0	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		8
HP:0002240	HP:0002240	Hepatomegaly	0	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2	.		2
HP:0002240	HP:0002240	Hepatomegaly	0	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2			27
HP:0002240	HP:0002240	Hepatomegaly	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional		130
HP:0002240	HP:0002240	Hepatomegaly	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders			1
HP:0002240	HP:0002240	Hepatomegaly	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0002240	HP:0002240	Hepatomegaly	0	VPS33B CL E G H	26276	12712	OMIM:620010				63
HP:0002240	HP:0002240	Hepatomegaly	0	VPS45 CL E G H	11311	14579	OMIM:615285	Neutropenia, severe congenital, 5, autosomal recessive	.		7
HP:0002240	HP:0002240	Hepatomegaly	0	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG			1
HP:0002240	HP:0002240	Hepatomegaly	0	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly			95
HP:0002240	HP:0002240	Hepatomegaly	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.		136
HP:0002240	HP:0002240	Hepatomegaly	0	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		40
HP:0002240	HP:0002240	Hepatomegaly	0	WT1 CL E G H	7490	12796	ORPHA:83469	Desmoplastic small round cell tumor	HP:0040282 - Frequent		177
HP:0002240	HP:0002240	Hepatomegaly	0	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1			81
HP:0002240	HP:0002240	Hepatomegaly	0	XIAP CL E G H	331	592	OMIM:300635	Lymphoproliferative syndrome, X-linked, 2	.		81
HP:0002240	HP:0002240	Hepatomegaly	0	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome			8
HP:0002240	HP:0002240	Hepatomegaly	0	XPR1 CL E G H	9213	12827	ORPHA:1980	Bilateral striopallidodentate calcinosis	HP:0040281 - Very frequent		4
HP:0002240	HP:0002240	Hepatomegaly	0	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome	HP:0040283 - Occasional		9
HP:0002240	HP:0002240	Hepatomegaly	0	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG	HP:0040282 - Frequent		14
HP:0002240	HP:0002240	Hepatomegaly	0	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0002240	HP:0002240	Hepatomegaly	0	YARS2 CL E G H	51067	24249	OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	HP:0040283 - Occasional		45
HP:0002240	HP:0002240	Hepatomegaly	0	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency			46
HP:0002240	HP:0002240	Hepatomegaly	0	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT	.		46
HP:0002240	HP:0002240	Hepatomegaly	0	ZFYVE19 CL E G H	84936	20758	OMIM:619849
HP:0002240	HP:0002240	Hepatomegaly	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0002240	HP:0002240	Hepatomegaly	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0002240	HP:0002240	Hepatomegaly	0	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0002240	HP:0001433	Hepatosplenomegaly	1	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease	HP:0040282 - Frequent		191
HP:0002240	HP:0001433	Hepatosplenomegaly	1	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0002240	HP:0001433	Hepatosplenomegaly	1	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		116
HP:0002240	HP:0001433	Hepatosplenomegaly	1	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il			93
HP:0002240	HP:0001433	Hepatosplenomegaly	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional		404
HP:0002240	HP:0001433	Hepatosplenomegaly	1	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040284 - Very rare
HP:0002240	HP:0001433	Hepatosplenomegaly	1	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0002240	HP:0001433	Hepatosplenomegaly	1	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040283 - Occasional		78
HP:0002240	HP:0001433	Hepatosplenomegaly	1	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		145
HP:0002240	HP:0001433	Hepatosplenomegaly	1	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional		5769
HP:0002240	HP:0001433	Hepatosplenomegaly	1	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional		7642
HP:0002240	HP:0001433	Hepatosplenomegaly	1	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3	.		29
HP:0002240	HP:0001433	Hepatosplenomegaly	1	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis	HP:0040282 - Frequent		1
HP:0002240	HP:0001433	Hepatosplenomegaly	1	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3			11
HP:0002240	HP:0001433	Hepatosplenomegaly	1	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		317
HP:0002240	HP:0001433	Hepatosplenomegaly	1	CCDC115 CL E G H	84317	28178	OMIM:616828	Congenital disorder of glycosylation, type IIO			3
HP:0002240	HP:0001433	Hepatosplenomegaly	1	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040284 - Very rare		8
HP:0002240	HP:0001433	Hepatosplenomegaly	1	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional		8
HP:0002240	HP:0001433	Hepatosplenomegaly	1	CD27 CL E G H	939	11922	OMIM:615122	Lymphoproliferative syndrome 2			4
HP:0002240	HP:0001433	Hepatosplenomegaly	1	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional		18
HP:0002240	HP:0001433	Hepatosplenomegaly	1	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional		24
HP:0002240	HP:0001433	Hepatosplenomegaly	1	CD70 CL E G H	970	11937	OMIM:618261	LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0002240	HP:0001433	Hepatosplenomegaly	1	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional		289
HP:0002240	HP:0001433	Hepatosplenomegaly	1	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis			1371
HP:0002240	HP:0001433	Hepatosplenomegaly	1	CLCN7 CL E G H	1186	2025	ORPHA:210110	Intermediate osteopetrosis	HP:0040284 - Very rare		102
HP:0002240	HP:0001433	Hepatosplenomegaly	1	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG	HP:0040283 - Occasional		52
HP:0002240	HP:0001433	Hepatosplenomegaly	1	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG	HP:0040282 - Frequent		67
HP:0002240	HP:0001433	Hepatosplenomegaly	1	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional		79
HP:0002240	HP:0001433	Hepatosplenomegaly	1	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG			64
HP:0002240	HP:0001433	Hepatosplenomegaly	1	CSF3R CL E G H	1441	2439	OMIM:162830	Neutrophilia, hereditary	.		34
HP:0002240	HP:0001433	Hepatosplenomegaly	1	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis	HP:0040283 - Occasional		51
HP:0002240	HP:0001433	Hepatosplenomegaly	1	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0002240	HP:0001433	Hepatosplenomegaly	1	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0002240	HP:0001433	Hepatosplenomegaly	1	CYP7B1 CL E G H	9420	2652	ORPHA:79302	Congenital bile acid synthesis defect type 3			57
HP:0002240	HP:0001433	Hepatosplenomegaly	1	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome			8
HP:0002240	HP:0001433	Hepatosplenomegaly	1	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type	HP:0040283 - Occasional
HP:0002240	HP:0001433	Hepatosplenomegaly	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0002240	HP:0001433	Hepatosplenomegaly	1	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0002240	HP:0001433	Hepatosplenomegaly	1	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040283 - Occasional		27
HP:0002240	HP:0001433	Hepatosplenomegaly	1	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040283 - Occasional		4
HP:0002240	HP:0001433	Hepatosplenomegaly	1	DZIP1L CL E G H	199221	26551	OMIM:617610	Polycystic kidney disease 5			4
HP:0002240	HP:0001433	Hepatosplenomegaly	1	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0002240	HP:0001433	Hepatosplenomegaly	1	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis			6
HP:0002240	HP:0001433	Hepatosplenomegaly	1	FERMT3 CL E G H	83706	23151	OMIM:612840	Leukocyte adhesion deficiency, type III			23
HP:0002240	HP:0001433	Hepatosplenomegaly	1	FGFR2 CL E G H	2263	3689	OMIM:614592	Bent bone dysplasia syndrome	HP:0040283 - Occasional		175
HP:0002240	HP:0001433	Hepatosplenomegaly	1	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia	HP:0040283 - Occasional		175
HP:0002240	HP:0001433	Hepatosplenomegaly	1	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive			37
HP:0002240	HP:0001433	Hepatosplenomegaly	1	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency	HP:0040283 - Occasional		23
HP:0002240	HP:0001433	Hepatosplenomegaly	1	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0002240	HP:0001433	Hepatosplenomegaly	1	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040282 - Frequent
HP:0002240	HP:0001433	Hepatosplenomegaly	1	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV	.		86
HP:0002240	HP:0001433	Hepatosplenomegaly	1	GCLC CL E G H	2729	4311	ORPHA:33574	Glutamate-cysteine ligase deficiency	HP:0040283 - Occasional		2
HP:0002240	HP:0001433	Hepatosplenomegaly	1	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1	HP:0040281 - Very frequent		120
HP:0002240	HP:0001433	Hepatosplenomegaly	1	GLRX5 CL E G H	51218	20134	OMIM:616860	Anemia, sideroblastic, 3, pyridoxine-refractory			17
HP:0002240	HP:0001433	Hepatosplenomegaly	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002240	HP:0001433	Hepatosplenomegaly	1	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria	HP:0040281 - Very frequent		173
HP:0002240	HP:0001433	Hepatosplenomegaly	1	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional		240
HP:0002240	HP:0001433	Hepatosplenomegaly	1	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent		2
HP:0002240	HP:0001433	Hepatosplenomegaly	1	HAVCR2 CL E G H	84868	18437	ORPHA:86884	Subcutaneous panniculitis-like T-cell lymphoma	HP:0040282 - Frequent
HP:0002240	HP:0001433	Hepatosplenomegaly	1	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia	HP:0040283 - Occasional		580
HP:0002240	HP:0001433	Hepatosplenomegaly	1	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040283 - Occasional		580
HP:0002240	HP:0001433	Hepatosplenomegaly	1	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040283 - Occasional		580
HP:0002240	HP:0001433	Hepatosplenomegaly	1	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease	.		80
HP:0002240	HP:0001433	Hepatosplenomegaly	1	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form			80
HP:0002240	HP:0001433	Hepatosplenomegaly	1	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome	HP:0040283 - Occasional
HP:0002240	HP:0001433	Hepatosplenomegaly	1	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040283 - Occasional		86
HP:0002240	HP:0001433	Hepatosplenomegaly	1	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040283 - Occasional		86
HP:0002240	HP:0001433	Hepatosplenomegaly	1	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II			86
HP:0002240	HP:0001433	Hepatosplenomegaly	1	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.		115
HP:0002240	HP:0001433	Hepatosplenomegaly	1	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		28
HP:0002240	HP:0001433	Hepatosplenomegaly	1	IFNG CL E G H	3458	5438	OMIM:618963	IMMUNODEFICIENCY 69; IMD69			23
HP:0002240	HP:0001433	Hepatosplenomegaly	1	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR			60
HP:0002240	HP:0001433	Hepatosplenomegaly	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0002240	HP:0001433	Hepatosplenomegaly	1	IKBKG CL E G H	8517	5961	OMIM:301081				52
HP:0002240	HP:0001433	Hepatosplenomegaly	1	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41			65
HP:0002240	HP:0001433	Hepatosplenomegaly	1	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040284 - Very rare		65
HP:0002240	HP:0001433	Hepatosplenomegaly	1	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040284 - Very rare
HP:0002240	HP:0001433	Hepatosplenomegaly	1	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0002240	HP:0001433	Hepatosplenomegaly	1	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040283 - Occasional		94
HP:0002240	HP:0001433	Hepatosplenomegaly	1	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency	HP:0040281 - Very frequent		3
HP:0002240	HP:0001433	Hepatosplenomegaly	1	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE			12
HP:0002240	HP:0001433	Hepatosplenomegaly	1	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis	HP:0040282 - Frequent		57
HP:0002240	HP:0001433	Hepatosplenomegaly	1	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency	HP:0040284 - Very rare		140
HP:0002240	HP:0001433	Hepatosplenomegaly	1	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0002240	HP:0001433	Hepatosplenomegaly	1	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV			42
HP:0002240	HP:0001433	Hepatosplenomegaly	1	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome	HP:0040283 - Occasional		13
HP:0002240	HP:0001433	Hepatosplenomegaly	1	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional		196
HP:0002240	HP:0001433	Hepatosplenomegaly	1	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0002240	HP:0001433	Hepatosplenomegaly	1	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency			73
HP:0002240	HP:0001433	Hepatosplenomegaly	1	LPIN2 CL E G H	9663	14450	OMIM:609628	MAJEED SYNDROME; MJDS			186
HP:0002240	HP:0001433	Hepatosplenomegaly	1	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia	.		106
HP:0002240	HP:0001433	Hepatosplenomegaly	1	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent
HP:0002240	HP:0001433	Hepatosplenomegaly	1	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040282 - Frequent		239
HP:0002240	HP:0001433	Hepatosplenomegaly	1	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form	HP:0040283 - Occasional		136
HP:0002240	HP:0001433	Hepatosplenomegaly	1	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040282 - Frequent		136
HP:0002240	HP:0001433	Hepatosplenomegaly	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0002240	HP:0001433	Hepatosplenomegaly	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0002240	HP:0001433	Hepatosplenomegaly	1	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG	HP:0040283 - Occasional		37
HP:0002240	HP:0001433	Hepatosplenomegaly	1	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis	HP:0040282 - Frequent		97
HP:0002240	HP:0001433	Hepatosplenomegaly	1	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent		1
HP:0002240	HP:0001433	Hepatosplenomegaly	1	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome			150
HP:0002240	HP:0006564	Fluctuating hepatomegaly	1	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria	.		150
HP:0002240	HP:0001433	Hepatosplenomegaly	1	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0002240	HP:0001433	Hepatosplenomegaly	1	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0002240	HP:0001433	Hepatosplenomegaly	1	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2	HP:0040282 - Frequent		43
HP:0002240	HP:0001433	Hepatosplenomegaly	1	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2	HP:0040283 - Occasional		43
HP:0002240	HP:0001433	Hepatosplenomegaly	1	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0002240	HP:0001433	Hepatosplenomegaly	1	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA			217
HP:0002240	HP:0001433	Hepatosplenomegaly	1	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7			157
HP:0002240	HP:0001433	Hepatosplenomegaly	1	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5			73
HP:0002240	HP:0001433	Hepatosplenomegaly	1	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional		1349
HP:0002240	HP:0001433	Hepatosplenomegaly	1	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional		192
HP:0002240	HP:0001433	Hepatosplenomegaly	1	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)	.		82
HP:0002240	HP:0001433	Hepatosplenomegaly	1	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040283 - Occasional		563
HP:0002240	HP:0001433	Hepatosplenomegaly	1	PLEKHM1 CL E G H	9842	29017	ORPHA:210110	Intermediate osteopetrosis	HP:0040284 - Very rare		2
HP:0002240	HP:0001433	Hepatosplenomegaly	1	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2			58
HP:0002240	HP:0001433	Hepatosplenomegaly	1	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3			10
HP:0002240	HP:0001433	Hepatosplenomegaly	1	PSTPIP1 CL E G H	9051	9580	OMIM:604416	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne			96
HP:0002240	HP:0001433	Hepatosplenomegaly	1	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040284 - Very rare
HP:0002240	HP:0001433	Hepatosplenomegaly	1	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040284 - Very rare		3
HP:0002240	HP:0001433	Hepatosplenomegaly	1	PTPRC CL E G H	5788	9666	OMIM:619924				25
HP:0002240	HP:0001433	Hepatosplenomegaly	1	RAB27A CL E G H	5873	9766	OMIM:607624	Griscelli syndrome, type 2			67
HP:0002240	HP:0001433	Hepatosplenomegaly	1	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional
HP:0002240	HP:0001433	Hepatosplenomegaly	1	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B			9
HP:0002240	HP:0001433	Hepatosplenomegaly	1	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040283 - Occasional		127
HP:0002240	HP:0001433	Hepatosplenomegaly	1	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040283 - Occasional		50
HP:0002240	HP:0001433	Hepatosplenomegaly	1	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0002240	HP:0001433	Hepatosplenomegaly	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0002240	HP:0001433	Hepatosplenomegaly	1	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome	HP:0040283 - Occasional		13
HP:0002240	HP:0001433	Hepatosplenomegaly	1	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome	HP:0040283 - Occasional		8
HP:0002240	HP:0001433	Hepatosplenomegaly	1	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome	HP:0040283 - Occasional		16
HP:0002240	HP:0001433	Hepatosplenomegaly	1	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		33
HP:0002240	HP:0001433	Hepatosplenomegaly	1	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4			33
HP:0002240	HP:0001433	Hepatosplenomegaly	1	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		34
HP:0002240	HP:0001433	Hepatosplenomegaly	1	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		60
HP:0002240	HP:0001433	Hepatosplenomegaly	1	RNASEH2C CL E G H	84153	24116	OMIM:610329	Aicardi-Goutieres syndrome 3			60
HP:0002240	HP:0001433	Hepatosplenomegaly	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040282 - Frequent		15
HP:0002240	HP:0001433	Hepatosplenomegaly	1	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent
HP:0002240	HP:0001433	Hepatosplenomegaly	1	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0002240	HP:0001433	Hepatosplenomegaly	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0002240	HP:0001433	Hepatosplenomegaly	1	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		181
HP:0002240	HP:0001433	Hepatosplenomegaly	1	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		55
HP:0002240	HP:0001433	Hepatosplenomegaly	1	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS			80
HP:0002240	HP:0001433	Hepatosplenomegaly	1	SCYL1 CL E G H	57410	14372	ORPHA:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome	HP:0040282 - Frequent		5
HP:0002240	HP:0001433	Hepatosplenomegaly	1	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent
HP:0002240	HP:0001433	Hepatosplenomegaly	1	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040282 - Frequent		82
HP:0002240	HP:0001433	Hepatosplenomegaly	1	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040282 - Frequent		68
HP:0002240	HP:0001433	Hepatosplenomegaly	1	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0002240	HP:0001433	Hepatosplenomegaly	1	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin	HP:0040282 - Frequent		255
HP:0002240	HP:0001433	Hepatosplenomegaly	1	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia	.		109
HP:0002240	HP:0001433	Hepatosplenomegaly	1	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent		104
HP:0002240	HP:0001433	Hepatosplenomegaly	1	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional		504
HP:0002240	HP:0001433	Hepatosplenomegaly	1	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	HP:0040283 - Occasional		14
HP:0002240	HP:0001433	Hepatosplenomegaly	1	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0002240	HP:0001433	Hepatosplenomegaly	1	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	HP:0040282 - Frequent		49
HP:0002240	HP:0001433	Hepatosplenomegaly	1	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		1
HP:0002240	HP:0001433	Hepatosplenomegaly	1	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent		89
HP:0002240	HP:0001433	Hepatosplenomegaly	1	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1			110
HP:0002240	HP:0001433	Hepatosplenomegaly	1	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040284 - Very rare		2
HP:0002240	HP:0001433	Hepatosplenomegaly	1	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts	HP:0040283 - Occasional		1
HP:0002240	HP:0001433	Hepatosplenomegaly	1	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5			70
HP:0002240	HP:0001433	Hepatosplenomegaly	1	TALDO1 CL E G H	6888	11559	ORPHA:101028	Transaldolase deficiency	HP:0040281 - Very frequent		34
HP:0002240	HP:0001433	Hepatosplenomegaly	1	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency			34
HP:0002240	HP:0001433	Hepatosplenomegaly	1	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent		241
HP:0002240	HP:0001433	Hepatosplenomegaly	1	TCIRG1 CL E G H	10312	11647	ORPHA:210110	Intermediate osteopetrosis	HP:0040284 - Very rare		82
HP:0002240	HP:0001433	Hepatosplenomegaly	1	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		3
HP:0002240	HP:0001433	Hepatosplenomegaly	1	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75			3
HP:0002240	HP:0001433	Hepatosplenomegaly	1	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis	HP:0040282 - Frequent		3
HP:0002240	HP:0001433	Hepatosplenomegaly	1	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0002240	HP:0001433	Hepatosplenomegaly	1	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis			13
HP:0002240	HP:0001433	Hepatosplenomegaly	1	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome			166
HP:0002240	HP:0001433	Hepatosplenomegaly	1	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2	.		44
HP:0002240	HP:0001433	Hepatosplenomegaly	1	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent
HP:0002240	HP:0001433	Hepatosplenomegaly	1	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional		911
HP:0002240	HP:0001433	Hepatosplenomegaly	1	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		56
HP:0002240	HP:0001433	Hepatosplenomegaly	1	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0002240	HP:0001433	Hepatosplenomegaly	1	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3			116
HP:0002240	HP:0001433	Hepatosplenomegaly	1	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040281 - Very frequent		1
HP:0002240	HP:0001433	Hepatosplenomegaly	1	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency	HP:0040283 - Occasional		46
HP:0002240	HP:0001433	Hepatosplenomegaly	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0002240	HP:0001433	Hepatosplenomegaly	1	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91

Genes (617) :ABCA1 ABCB11 ABCB4 ABCC2 ABCC8 ABCD3 ABHD5 ACADM ACADVL ACAT1 ACOX1 ADA ADA2 ADAMTSL2 ADAR AGA AGGF1 AGL AGPAT2 AKR1D1 AKT2 ALDH1A2 ALDOA ALDOB ALG1 ALG13 ALG2 ALG8 ALG9 ALMS1 AMACR ANK1 ANKRD55 ANTXR1 AP3B1 AP3D1 APOA1 APOC2 APOE ARG1 ARL13B ARSB ASAH1 ASL ASS1 ASXL1 ATAD3A ATP6 ATP6AP1 ATP6AP2 ATP6V1B2 ATP7B ATP8B1 ATPAF2 ATRX AUH B2M B4GALT1 BAAT BAP1 BMP2 BMP6 BOLA3 BRCA1 BRCA2 BSCL2 BTD BTNL2 C1QBP C2ORF69 CA2 CALR CASP10 CASR CAV1 CAVIN1 CBL CBS CC2D2A CCDC115 CCDC47 CD19 CD247 CD27 CD28 CD3D CD3E CD40LG CD55 CD70 CD81 CD96 CDAN1 CDIN1 CDKN1C CDKN2A CFTR CHD7 CIDEC CLCN7 CLDN1 CNTNAP2 COA8 COG1 COG4 COG5 COG6 COG7 COX14 COX4I2 COX5A CPOX CPT1A CPT2 CR2 CSF3R CTC1 CTLA4 CTNNB1 CTNS CTSA CTSK CYBA CYBB CYBC1 CYP7B1 CYTB DAXX DCDC2 DCLRE1C DDRGK1 DEF6 DGUOK DHCR7 DHDDS DHFR DIS3L2 DKC1 DLD DLK1 DNAJC21 DNASE1L3 DNASE2 DOCK2 DPAGT1 DPM1 DPM2 DYNC2LI1 DZIP1L EARS2 EFL1 EIF2AK3 EPB42 ERBB3 ERCC1 ERCC4 ERCC6 ERCC8 ETFA ETFB ETFDH EWSR1 EXTL3 F5 FAH FAM111B FARSA FAS FASLG FBN1 FBP1 FCGR2A FDX2 FERMT3 FGA FGFR2 FLNC FOCAD FOS FOXRED1 FUCA1 G6PC1 G6PC3 GAA GALE GALK1 GALM GALNS GALT GATA2 GBA1 GBE1 GCDH GCLC GFM1 GIMAP5 GLB1 GLIS3 GLRX5 GNB2 GNE GNMT GNPTAB GNS GPC3 GPC4 GPD1 GPIHBP1 GPR35 GUCY2D GUSB H19-ICR HADHA HAMP HAVCR2 HBA1 HBA2 HBB HBG1 HBG2 HEXB HFE HGSNAT HJV HLA-DRB1 HMGCL HMGCS2 HMOX1 HNF1A HNF4A HPGD HSD17B4 HSD3B7 HYMAI HYOU1 IARS1 ICOS IDS IDUA IFIH1 IFNG IFNGR1 IFT122 IFT140 IFT172 IGF2 IKBKG IL18BP IL1RN IL2RA IL2RB IL2RG IL6 IL6ST IL7R INPP5E INPPL1 INSR IRF4 IRF8 ITCH ITK JAK1 JAK2 JAK3 JAM2 JAM3 KCNH1 KCNJ11 KCNN3 KCNN4 KCNQ1 KCNQ1OT1 KIF12 KIF20A KIF3B KIT KLF1 KPTN KRAS LACC1 LAMA5 LARS1 LBR LCAT LIG4 LIPA LIPE LMBRD1 LMNA LPIN2 LPL LRP5 LSM11 LTBP3 LYRM4 LYST LYZ LZTR1 MADD MAGT1 MAN2B1 MAPK8IP3 MARS1 MCM4 MED12 MEFV MEG3 MET MFN2 MICU1 MIF MMAA MMAB MMUT MOGS MPC1 MPI MPL MPV17 MRAS MRPL3 MRPS28 MRPS7 MST1 MTTP MTX2 MVK MYBPC3 MYD88 MYL2 MYO5B MYORG MYPN NAGA NAGLU NAGS NCF1 NCF2 NCF4 NCKAP1L ND1 ND2 ND3 ND4 ND5 ND6 NDUFA1 NDUFA11 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEK8 NEU1 NGLY1 NHLRC2 NHP2 NLRP1 NLRP3 NOP10 NOTCH2 NPC1 NPC2 NPHP3 NPM1 NRAS NSD2 NUBPL OCLN OSTM1 OTUD5 PALB2 PALLD PARN PC PCCA PCCB PCK1 PDGFB PDGFRA PDGFRB PEPD PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PGM1 PHKA2 PHKB PHKG2 PIEZO1 PIGA PIGM PIGS PIK3C2A PKD2 PKHD1 PKLR PLAGL1 PLEKHM1 PMM2 PNPLA2 POLD1 POLG POLG2 PPARG PPP1R21 PRF1 PRKCD PRKCSH PSAP PSMB10 PSMB4 PSMB8 PSMB9 PSMG2 PSTPIP1 PTEN PTPN11 PTPN2 PTPN22 PTPRC PTRH2 PUS7 PYGL RAB27A RABL3 RAC2 RAF1 RAG1 RAG2 RASA2 RASGRP1 RBCK1 RBM8A REL RFT1 RHAG RHBDF2 RHCE RHD RINT1 RIPK1 RIT1 RMND1 RMRP RNASEH2A RNASEH2B RNASEH2C RNU4ATAC RNU7-1 RPGRIP1L RRAS RRAS2 RTEL1 RTL1 RUNX1 SAA1 SAMHD1 SASH3 SBDS SC5D SCARB2 SCO1 SCO2 SCYL1 SDHD SEC63 SEMA4D SERPINA1 SF3B1 SGSH SH2D1A SKIC2 SKIC3 SLC17A5 SLC20A2 SLC22A5 SLC25A1 SLC25A13 SLC25A15 SLC25A19 SLC25A20 SLC29A3 SLC2A1 SLC2A2 SLC30A10 SLC34A2 SLC35C1 SLC37A4 SLC38A3 SLC39A4 SLC40A1 SLC4A1 SLC7A7 SLCO2A1 SMAD4 SMPD1 SNX10 SNX14 SOCS1 SOS1 SOS2 SOX10 SP110 SPRED2 SPTA1 SPTB SRP54 SRSF2 STAT1 STAT3 STAT4 STEAP3 STX11 STXBP2 SUCLG1 SUMF1 SURF1 TALDO1 TCF4 TCIRG1 TERC TERT TET2 TFE3 TGFB1 TIMMDC1 TINF2 TKFC TKT TLR8 TMEM126B TMEM165 TMEM67 TMEM70 TNFRSF11A TNFRSF13B TNFRSF13C TNFRSF1A TNFRSF1B TNFSF11 TNNI3 TNNT2 TOGARAM1 TOM1 TP53 TRAPPC11 TREX1 TRIM37 TRMU TRNE TRNK TRNL1 TRNN TRNS1 TRNV TRNW TRPV6 TSFM TTC26 TUFM TULP3 TYMS UCP2 UNC13D UQCRB USB1 USP18 VIPAS39 VPS13A VPS33A VPS33B VPS45 VPS4A WDR19 WDR35 WRAP53 WT1 XIAP XK XPR1 XRCC4 XYLT1 YARS1 YARS2 ZAP70 ZFYVE19 ZIC3 ZNF699 ZNFX1

Diseases (648) :ORPHA:31150 OMIM:205400 OMIM:605479 OMIM:601847 OMIM:602347 ORPHA:234 ORPHA:276575 OMIM:616278 OMIM:275630 ORPHA:98907 OMIM:201450 ORPHA:42 ORPHA:26793 OMIM:201475 ORPHA:134 OMIM:264470 ORPHA:2971 ORPHA:39041 OMIM:102700 OMIM:615688 OMIM:231050 ORPHA:51 OMIM:615010 OMIM:208400 ORPHA:93 ORPHA:90308 OMIM:232400 ORPHA:528 OMIM:608594 OMIM:235555 ORPHA:79303 ORPHA:79085 OMIM:620025 OMIM:611881 OMIM:229600 ORPHA:469 OMIM:608540 OMIM:300884 ORPHA:79326 OMIM:607906 OMIM:608104 ORPHA:79328 OMIM:608776 ORPHA:64 OMIM:203800 OMIM:214950 ORPHA:822 ORPHA:85408 OMIM:230740 OMIM:608233 OMIM:617050 OMIM:105200 OMIM:207750 ORPHA:412 ORPHA:158029 OMIM:207800 OMIM:612291 OMIM:253200 ORPHA:333 OMIM:228000 OMIM:207900 OMIM:215700 ORPHA:98850 ORPHA:98849 OMIM:618810 ORPHA:255210 OMIM:300972 OMIM:301045 ORPHA:3473 ORPHA:905 OMIM:277900 OMIM:243300 OMIM:211600 OMIM:604273 ORPHA:100075 ORPHA:67046 ORPHA:79332 OMIM:619232 ORPHA:50251 OMIM:235200 ORPHA:465508 OMIM:614299 ORPHA:1333 OMIM:615924 OMIM:269700 ORPHA:363400 OMIM:253260 ORPHA:797 OMIM:612387 OMIM:617713 OMIM:619423 ORPHA:2785 OMIM:259730 ORPHA:131 ORPHA:824 ORPHA:3261 OMIM:603909 OMIM:239200 ORPHA:417 OMIM:612526 OMIM:613327 ORPHA:648 ORPHA:394 ORPHA:1454 OMIM:616828 OMIM:618268 OMIM:240500 ORPHA:169160 OMIM:615122 ORPHA:2584 ORPHA:3162 OMIM:308230 OMIM:226300 OMIM:618261 OMIM:613496 OMIM:211750 OMIM:224120 OMIM:615631 OMIM:130650 OMIM:219700 ORPHA:435651 OMIM:615238 ORPHA:667 OMIM:618541 ORPHA:210110 OMIM:611490 OMIM:607626 ORPHA:59303 ORPHA:163681 ORPHA:436271 ORPHA:263508 ORPHA:263501 OMIM:613489 ORPHA:263487 OMIM:614576 ORPHA:79333 OMIM:608779 OMIM:619053 OMIM:612714 OMIM:619064 OMIM:121300 OMIM:618892 ORPHA:156 OMIM:255120 ORPHA:228308 ORPHA:228305 OMIM:600649 OMIM:608836 OMIM:162830 ORPHA:1775 OMIM:616100 ORPHA:33402 OMIM:219800 OMIM:256540 ORPHA:763 ORPHA:379 OMIM:233690 OMIM:306400 OMIM:618935 OMIM:613812 ORPHA:79302 ORPHA:137675 OMIM:616217 OMIM:617394 ORPHA:84081 OMIM:603554 OMIM:602450 OMIM:602557 ORPHA:93352 OMIM:619573 OMIM:251880 OMIM:617068 OMIM:270400 OMIM:613861 OMIM:613839 ORPHA:2849 OMIM:246900 ORPHA:2394 ORPHA:96334 ORPHA:811 OMIM:260400 ORPHA:36412 OMIM:619858 OMIM:616433 ORPHA:86309 OMIM:608799 ORPHA:79322 ORPHA:329178 OMIM:617088 ORPHA:731 OMIM:617610 OMIM:614924 OMIM:617941 OMIM:226980 ORPHA:1667 OMIM:133180 ORPHA:90322 ORPHA:90321 ORPHA:90324 OMIM:133540 OMIM:216400 OMIM:231680 ORPHA:83469 ORPHA:508533 ORPHA:882 OMIM:276700 OMIM:615704 OMIM:619013 OMIM:601859 OMIM:614185 ORPHA:348 OMIM:229700 OMIM:251900 OMIM:612840 OMIM:614592 ORPHA:313855 ORPHA:75249 OMIM:619991 ORPHA:2609 OMIM:230000 ORPHA:349 OMIM:232200 OMIM:612541 ORPHA:308552 OMIM:232300 OMIM:230350 ORPHA:79237 ORPHA:570422 OMIM:253000 ORPHA:79239 OMIM:230400 ORPHA:3226 ORPHA:85212 ORPHA:77259 ORPHA:77260 ORPHA:77261 OMIM:608013 OMIM:230800 OMIM:230900 OMIM:231000 OMIM:231005 ORPHA:2072 OMIM:232500 OMIM:231670 ORPHA:33574 OMIM:609060 OMIM:619463 ORPHA:79255 OMIM:230500 OMIM:230600 OMIM:253010 OMIM:610199 OMIM:616860 OMIM:619503 OMIM:269921 ORPHA:3166 OMIM:606664 OMIM:252500 ORPHA:576 OMIM:252940 ORPHA:373 OMIM:312870 OMIM:614480 OMIM:615947 ORPHA:171 OMIM:204000 OMIM:253220 ORPHA:5 OMIM:609016 OMIM:613313 ORPHA:86884 ORPHA:163596 OMIM:613978 ORPHA:231222 ORPHA:231214 OMIM:603902 ORPHA:231226 ORPHA:46532 OMIM:603903 OMIM:613977 OMIM:268800 ORPHA:309155 OMIM:252930 OMIM:602390 OMIM:181000 ORPHA:85414 ORPHA:20 OMIM:246450 OMIM:605911 OMIM:614034 ORPHA:324575 OMIM:616026 ORPHA:263455 ORPHA:2796 OMIM:261515 OMIM:607765 ORPHA:79301 ORPHA:96191 OMIM:233600 ORPHA:541423 OMIM:607594 ORPHA:217093 ORPHA:217085 OMIM:309900 OMIM:607014 ORPHA:93473 OMIM:607015 ORPHA:93476 ORPHA:93474 OMIM:615846 OMIM:618963 OMIM:209950 OMIM:218330 OMIM:266920 OMIM:615630 OMIM:301081 OMIM:618549 OMIM:612852 OMIM:606367 OMIM:618495 OMIM:300400 ORPHA:276 OMIM:619750 OMIM:608971 ORPHA:169154 ORPHA:2746 ORPHA:508 ORPHA:3452 OMIM:226990 OMIM:613385 ORPHA:228426 OMIM:613011 OMIM:618999 ORPHA:729 ORPHA:35078 ORPHA:1980 OMIM:613730 OMIM:135500 ORPHA:276580 OMIM:616689 OMIM:619662 OMIM:619433 OMIM:618955 OMIM:613673 ORPHA:397612 OMIM:615637 OMIM:614470 OMIM:620076 OMIM:615438 OMIM:215140 OMIM:613471 ORPHA:779 ORPHA:79292 ORPHA:99812 ORPHA:75234 OMIM:278000 ORPHA:75233 ORPHA:435660 OMIM:277380 ORPHA:280365 ORPHA:2348 ORPHA:79084 OMIM:151660 OMIM:248370 ORPHA:77297 OMIM:609628 OMIM:238600 ORPHA:2924 OMIM:617809 OMIM:615595 ORPHA:167 OMIM:214500 OMIM:619004 OMIM:619005 OMIM:301031 OMIM:248500 ORPHA:309288 ORPHA:309282 OMIM:618443 OMIM:615486 OMIM:609981 OMIM:301068 OMIM:249100 ORPHA:2398 OMIM:615673 OMIM:251100 OMIM:251110 OMIM:251000 ORPHA:79312 ORPHA:289916 OMIM:606056 ORPHA:79330 OMIM:614741 OMIM:602579 ORPHA:79319 OMIM:256810 OMIM:614582 OMIM:618958 OMIM:617872 ORPHA:14 OMIM:619127 OMIM:260920 ORPHA:343 OMIM:610377 OMIM:115197 ORPHA:33226 OMIM:619424 OMIM:619868 ORPHA:79279 ORPHA:79281 OMIM:252920 ORPHA:927 OMIM:233700 OMIM:233710 OMIM:618982 OMIM:618234 OMIM:252010 OMIM:618224 OMIM:615415 ORPHA:93400 ORPHA:93399 OMIM:256550 ORPHA:404454 OMIM:615273 OMIM:618278 OMIM:617388 ORPHA:1451 OMIM:607115 ORPHA:575 ORPHA:955 OMIM:257220 OMIM:607625 OMIM:267010 OMIM:208540 OMIM:619695 OMIM:251290 OMIM:259720 OMIM:301056 OMIM:266150 ORPHA:35 OMIM:606054 OMIM:261680 OMIM:607685 ORPHA:742 OMIM:170100 ORPHA:772 OMIM:214100 OMIM:601539 ORPHA:912 OMIM:614870 OMIM:614859 OMIM:266510 OMIM:614887 OMIM:614876 OMIM:614866 OMIM:614872 OMIM:614882 OMIM:214110 OMIM:614862 OMIM:614863 OMIM:614921 ORPHA:264580 OMIM:306000 ORPHA:79240 OMIM:261750 OMIM:613027 OMIM:194380 OMIM:300868 OMIM:301072 OMIM:610293 OMIM:618143 OMIM:618440 OMIM:613095 ORPHA:53035 OMIM:263200 OMIM:266200 OMIM:618107 OMIM:212065 OMIM:610717 ORPHA:98908 ORPHA:565612 OMIM:615381 OMIM:203700 OMIM:618528 ORPHA:79083 OMIM:619383 ORPHA:540 OMIM:603553 OMIM:615559 OMIM:611721 ORPHA:139406 OMIM:610539 OMIM:619175 OMIM:617591 OMIM:256040 OMIM:619183 OMIM:604416 OMIM:605309 OMIM:619924 ORPHA:456312 OMIM:616263 OMIM:618342 ORPHA:369 OMIM:232700 ORPHA:79477 OMIM:607624 OMIM:618986 ORPHA:331206 OMIM:618534 OMIM:615895 OMIM:274000 OMIM:619652 OMIM:612015 ORPHA:244310 OMIM:185000 ORPHA:71275 ORPHA:2198 OMIM:619462 OMIM:618641 OMIM:618852 OMIM:614922 ORPHA:175 OMIM:610333 OMIM:610329 ORPHA:353298 OMIM:616651 OMIM:619487 ORPHA:85445 OMIM:301082 ORPHA:46059 OMIM:607330 OMIM:619048 OMIM:604377 ORPHA:466794 OMIM:616719 OMIM:619167 OMIM:617004 ORPHA:60 ORPHA:75564 OMIM:252900 OMIM:308240 ORPHA:84064 OMIM:614602 OMIM:222470 OMIM:269920 OMIM:212140 ORPHA:158 OMIM:615182 ORPHA:247585 ORPHA:247598 OMIM:238970 ORPHA:415 ORPHA:99742 OMIM:607196 OMIM:212138 ORPHA:159 ORPHA:168569 OMIM:602782 ORPHA:168577 OMIM:608885 ORPHA:2088 ORPHA:309854 OMIM:613280 ORPHA:60025 ORPHA:99843 OMIM:619525 ORPHA:79259 OMIM:232220 OMIM:232240 OMIM:619881 OMIM:201100 OMIM:606069 OMIM:611590 ORPHA:470 OMIM:222700 ORPHA:77293 OMIM:257200 OMIM:607616 OMIM:615085 ORPHA:397709 OMIM:616354 OMIM:619375 OMIM:609136 ORPHA:163746 ORPHA:79124 ORPHA:391487 OMIM:614162 OMIM:615952 OMIM:615234 ORPHA:300298 OMIM:603552 OMIM:613101 ORPHA:17 OMIM:272200 ORPHA:585 OMIM:220110 ORPHA:101028 OMIM:606003 OMIM:259700 OMIM:619126 OMIM:301066 ORPHA:1328 OMIM:618805 ORPHA:488618 OMIM:301078 OMIM:614727 OMIM:216360 OMIM:607361 ORPHA:1194 OMIM:612301 OMIM:142680 OMIM:259710 OMIM:619185 OMIM:615356 ORPHA:369840 OMIM:225750 ORPHA:2576 OMIM:253250 OMIM:613070 ORPHA:254864 OMIM:610505 OMIM:619534 OMIM:610678 OMIM:619902 ORPHA:276556 OMIM:608898 OMIM:615158 OMIM:617397 OMIM:613404 ORPHA:2388 ORPHA:505248 OMIM:617303 OMIM:620010 OMIM:615285 OMIM:619273 OMIM:614376 OMIM:613610 OMIM:300635 OMIM:300842 ORPHA:370930 OMIM:619418 OMIM:613561 ORPHA:911 OMIM:269840 OMIM:619849 OMIM:306955 OMIM:619488 OMIM:619644

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen